Non-allelic heterogeneity

Source: OMIM morbidmap ('11-1-8)

FrequencyDiseaseRelated Gene
29NIDDMGPD2
NEUROD1, NIDDM
IRS1
PPARG, PPARG1, PPARG2, CIMT1, GLM1
IGF2BP2, IMP2
WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38
NIDDM4
CDKAL1
ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2
IL6, IFNB2, BSF2, HSF, HGF
GCK, HHF3
PAX4, MODY9, KPD
SLC30A8, ZNT8
TCF7L2, TCF4
ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2
KCNJ11, BIR, PHHI, HHF2, TNDM3
MAPK8IP1, IB1
HNF1A, TCF1, MODY3, IDDM20
IPF1, MODY4
IRS2
LIPC, HL, LIPH, HDLCQ12
SLC2A4, GLUT4
HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11
GCGR
RETN, RSTN, FIZZ3
AKT2
HNF4A, TCF14, MODY1
NIDDM3
PTPN1, PTP1B
26SCZDMTHFR
SCZD12
CHI3L1, GP39, YKL40, ASRT7
DISC1, SCZD9
DISC2
SYN2
DRD3, ETM1, FET1
SCZD1
SCZD3
DTNBP1, HPS7
SCZD5
SCZD6
SCZD11
GPR48, LGR4
SCZD2
DAO, DAMOX
HTR2A
SCZD7
DAOA, G72
AKT1
SCZD10
SCZD8
RTN4R, NOGOR
COMT
APOL2
APOL4
20PROSTATE CANCERRNASEL, RNS4, PRCA1, HPC1
PCAP
HPC5
MAD1L1, TXBP181
HPC4
HIP1
MSR1
KLF6, COPEB, BCD1, ZF9
PTEN, MMAC1, GLM2
MXI1
CD82, SAR2, KAI1, ST6
BRCA2, FANCD1, BROVCA2, GLM3, PNCA2
CDH1, UVO, LCAM, ECAD
ZFHX3, ATBF1
ELAC2, HPC2
HPCQTL19
HPC3
CHEK2, RAD53, CHK2, CDS1, LFS2
HPC6
AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1
20BREAST CANCERRAD54L, HR54, HRAD54
CASP8, MCH5, ALPS2B
BARD1
PIK3CA
HMMR
NQO2, NMOR2
RB1CC1, CC1, KIAA0203
SLC22A1L, BWSCR1A, IMPT1
ATM, ATA, AT1
KRAS, KRAS2, RASK2, NS
BRCA2, FANCD1, BROVCA2, GLM3, PNCA2
AKT1
RAD51A, RECA
PALB2, FANCN, PNCA3
CDH1, UVO, LCAM, ECAD
TP53, P53, LFS1
PHB
BRIP1, BACH1, FANCJ
PPM1D, WIP1
CHEK2, RAD53, CHK2, CDS1, LFS2
19AMLGMPS
MLF1
LPP
CHIC2, BTL
KIT, PBT
NSD1, ARA267, STO
NPM1
WHSC1L1, NSD3
JAK2
NUP214, D9S46E, CAN, CAIN
AF10
PICALM, CALM, CLTH, LAP
ARHGEF12, LARG, KIAA0382
ETV6, TEL
FLT3
AMLCR2
SH3GL1, EEN
CEBPA, CEBP
RUNX1, CBFA2, AML1
19HYPERTENSION, ESSENTIALECE1
ATP1B1
RGS5
SELE, ELAM1
AGT, SERPINA8
HYT3
AGTR1, AGTR1A, AT2R1
ADD1
HYT6
CYP3A5, P450PCN3
NOS3
GNB3
HYT4
HYT2
NOS2A, NOS2
HYT1
PNMT, PENT
HYT5
PTGIS, CYP8A1, PGIS, CYP8
18CRCPLA2G2A, PLA2B, PLA2L, MOM1
NRAS, ALPS4, NS6
ODC1
PIK3CA
TLR2, TIL4
APC, GS, FPC, BTPS2
PDGFRL, PDGRL, PRLTS
TLR4, ARMD10
PTPRJ, DEP1
CCND1, PRAD1, BCL1
MLH3, HNPCC7
AKT1
BUB1B, BUBR1
TP53, P53, LFS1
FLCN, BHD
AXIN2
AURKA, STK15, AURORA2, BTAK, ARK1, STK6, AIK
EP300
16OBESITYSDC3, SYND3, SDCN
NR0B2, SHP
POMC
GHRL
PPARG, PPARG1, PPARG2, CIMT1, GLM1
UCP1
CART
ADRB2
PPARGC1B, PGC1B, PERC
SIM1
ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2
ADRB3
UCP3
AGRP, ART, AGRT
PYY
MC4R
16BBSC2orf86, BBS15
BBS5
ARL6, BBS3, RP55
BBS7
BBS12, FLJ35630, C4orf24
PTHB1, BBS9
TMEM67, MKS3, JBTS6
TRIM32, HT2A, LGMD2H, BBS11
BBS1
BBS10, C12orf58, FLJ23560
CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14
TTC8, BBS8, RP51
BBS4
BBS2
MKS1, MKS, BBS13
MKKS, HMCS, KMS, MKS, BBS6
16ADAPBB2, FE65L1
HFE, HLA-H, HFE1, MVCD7
AD10
NOS3
PACIP1, PAXIP1L, PTIP
AD6
PLAU, URK
SORL1, LR11, SORLA
A2M
AD5
BLMH, BMH
ACE, DCP1, ACE1, MVCD3
MPO
AD9
AD8
APP, AAA, CVAP, AD1
15LUNG CANCERCASP8, MCH5, ALPS2B
DLEC1, DLC1
RASSF1
PIK3CA
IRF1, MAR
PRKN, PARK2, PDJ, LPRS2
EGFR
BRAF
MAP3K8, COT, EST, TPL2
ERCC6, CKN2, COFS1, CSB, ARMD5
SLC22A1L, BWSCR1A, IMPT1
PPP2R1B
KRAS, KRAS2, RASK2, NS
ERBB2, NGL, NEU, HER2
CYP2A6, CYP2A3, CYP2A, P450C2A
13ASTHMA, SUSCEPTIBILITY TOHNMT
MUC7
IL13, ALRH, BHR1
SCGB3A2, UGRP1
IL12B, NKSF2
ADRB2
HLA-G
TNF, TNFA
PLA2G7, PAFAH
ALOX5
UGB, CC10, CCSP, SCGB1A1
PHF11, NYREN34
CCL11, SCYA11
12MALARIA, SUSCEPTIBILITY TOFCGR2B, CD32
DARC, FY, GPD, WBCQ1
CR1, C3BR
GYPC, GE, GPC
CISH
GYPA, MN, GPA
TNF, TNFA
CD36, CHDS7
TIRAP
NOS2A, NOS2
SLC4A1, AE1, EPB3
ICAM1
12HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TOIL8RA
CX3CR1, GPR13, V28
HLA-C, PSORS1
CXCL12, SDF1
IFNG, IFG, IFI
IL4R, IL4RA
CCL3L1, SCYA3L1, LD78
CCL2, SCYA2, MCP1, MCAF
CCL3, SCYA3, MIP1A
CCL11, SCYA11
CD209, CDSIGN
KIR3DL1, NKAT3, NKB1, AMB11, KIR3DS1
12LSBCS1L, FLNMS, GRACILE, BJS, PTD
SDHA, SDH1, SDHF, CMD1GG
NDUFS4, AQDQ
NDUFA2
DLD, LAD, PHE3
C8orf38
SURF1
COX15
NDUFS3
NDUFS8
NDUFV1, UQOR1
NDUFS7, PSST
12MITOCHONDRIAL COMPLEX I DEFICIENCYNDUFS2
NDUFS1
NDUFAF3
NDUFS6
NDUFS4, AQDQ
NDUFAF2, NDUFA12L, MMTN, B17.2L
NDUFAF4, HRPAP20, C6orf66
NDUFV1, UQOR1
NDUFV2
NDUFA11
C20orf7
NDUFA1, MWFE
12GASTRIC CANCERMUTYH, MYH
IL1B
IL1RN, MVCD4, DIRA
CASP10, MCH4, ALPS2
PIK3CA
APC, GS, FPC, BTPS2
IRF1, MAR
KLF6, COPEB, BCD1, ZF9
FGFR2, BEK, CFD1, JWS
KRAS, KRAS2, RASK2, NS
CDH1, UVO, LCAM, ECAD
ERBB2, NGL, NEU, HER2
10MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TONRAMP1, NRAMP, SLC11A1
SP110, IFI41, IFI75, VODI
CISH
IRGM, LRG47, IFI1
IFNGR1
TIRAP
IFNG, IFG, IFI
CCL2, SCYA2, MCP1, MCAF
CD209, CDSIGN
MC3R, BMIQ9
10PSORS1IL23R, IBD17
PSORS7
PSORS4
PSORS5
PSORS3
PSORS9
HLA-C, PSORS1
PSORS2, PSS1
PSORS10
PSORS6
10SLEPTPN22, PEP, PTPN8, LYP
FCGR2B, CD32
FCGR3A, CD16, IGFR3
TNFSF6, APT1LG1, FASL
TREX1, AGS1, CRV, HERNS
SLEB3
BANK1, FLJ20706, BANK
C4A, C4S
SLEH1
DNASE1, DNL1
9RAPADI4, PADI5, PAD
PTPN22, PEP, PTPN8, LYP
CD244, NAIL, NKR2B4, SLAMF4
IL10, CSIF
STAT4, SLEB11
SLC22A4, OCTN1
HLA-DR1B, SS1
NFKBIL1
MHC2TA, C2TA
8ARMD1HMCN1, FBLN6, FIBL6, ARMD1
CFHR1, FHR1, HFL1, CFHL1
CFHR3, FHR3, HLF4, CFHL3
CX3CR1, GPR13, V28
C2
CFB, BF, GBG, AHUS4
PLEKHA1, TAPP1
APOE, AD2, LPG, LDLCQ5
8ZSPEX10, NALD
PEX14
PXF, HK33, D1S2223E, PEX19
PEX13, ZWS, NALD
PEX3
PEX1, ZWS1
PEX5, PXR1, PTS1R
PEX26
8OSTEOPOROSISRIL
CALCR, CRT
COL1A2
BMND8
LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4
VDR
COL1A1
BMND7
8IGERSELP, GRMP
SPINK5, LEKTI
HAVCR1, HAVCR
PLA2G7, PAFAH
MS4A2, FCER1B
PHF11, NYREN34
IL4R, IL4RA
IL21R
7HPSHPS3
DTNBP1, HPS7
HPS1
HPS6, RU
HPS5, RU2, KIAA1017
BLOC1S3, BLOS3, HPS8
HPS4
7THYROID CARCINOMA, PAPILLARYTRIM33, TIF1G, RFG7, PTC7
TRIM24, TIF1, TIF1A, PTC6
PCM1, PTC4
NCOA4, ELE1, PTC3
CCDC6, D10S170, H4, TST1, PTC, TPC
GOLGA5, RFG5, PTC5
PRKAR1A, TSE1, CNC1, CAR, PPNAD1
7PHEOCHROMOCYTOMAKIF1B, CMT2A, CMT2A1, NBLST1
SDHB, SDH2, SDHIP, PGL4
TMEM127
VHL
GDNF
RET, MEN2A
SDHD, PGL1
7HYPOGONADOTROPIC HYPOGONADISMPROK2, PK2, BV8, KAL4
TACR3, NK3R
FGFR1, FLT2, KAL2, OGD
CHD7, IS3, KAL5
NELF
TAC3, NKNB
KISS1R, GPR54
7RCC1OGG1
VHL
DIRC2, RCC4
RNF139, TRC8, RCA1
HNF1A, TCF1, MODY3, IDDM20
FLCN, BHD
HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11
7HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANTAPOA2
ITIH4, PK120, ITIHL1
GHR
GSBS
EPHX2
ABCA1, ABC1, HDLDT1, TGD
LDLR, FHC, FH, LDLCQ2
7ADHDDRD5, DRD1B, DRD1L2
SLC6A3, DAT1
ADHD4
ADHD3
DRD4
ADHD1
ADHD2
7HEPATOCELLULAR CARCINOMACASP8, MCH5, ALPS2B
CTNNB1
PIK3CA
MET, AUTS9
PDGFRL, PDGRL, PRLTS
AXIN1, AXIN
TP53, P53, LFS1
6COENZYME Q10 DEFICIENCYCABC1, COQ8, ADCK3, SCAR9, ARCA2
COQ2
PDSS2, DLP1, C6orf210
APTX, AOA, AOA1
PDSS1, TPT, COQ1
COQ9, C16orf49
6IDDCOL9A2, EDM2
COL11A1, STL2
THBS2
ASPN, PLAP1, OS3
CILP
COL9A3, EDM3, IDD
6IDDMPTPN22, PEP, PTPN8, LYP
ITPR3
IL6, IFNB2, BSF2, HSF, HGF
HNF1A, TCF1, MODY3, IDDM20
OAS1, OIAS
FOXP3, IPEX, AIID, XPID, PIDX
6AUTONOMIC CONTROL, CONGENITAL FAILURE OFPMX2B, NBPHOX, PHOX2B, NBLST2
GDNF
RET, MEN2A
BDNF
ASCL1, ASH1
EDN3, WS4B, HSCR4
6ESOPHAGEAL CANCERTGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B
DLEC1, DLC1
LZTS1, F37, FEZ1
DEC1
RNF6
WWOX, FOR
6ALCOHOL DEPENDENCEGABRA2
ADH1B, ADH2
ADH1C, ADH3
TAS2R16, T2R16
RCBTB1, CLLD7, GLP
HTR2A
5MDDFKBP5, FKBP51
TPH2, NTPH, ADHD7
MDD1
HTR2A
MDD2
5VWMEIF2B3
EIF2B4
EIF2B5, LVWM, CACH, CLE
EIF2B1, EIF2BA
EIF2B2
5STROKE, ISCHEMICF5
NOS3
F2
ALOX5AP, FLAP
PRKCH, PKCL, PRKCL
5RPUSH2A, RP39
MERTK, RP38
SPATA7, HSD3, LCA3
CNGB1, CNCG3L, CNCG2, RP45
CRX, CORD2, CRD, LCA7
5EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPELAMC2, LAMNB2, LAMB2T
LAMB3
COL17A1, BPAG2
ITGB4
LAMA3, LOCS
5ATYPICAL MYCOBACTERIOSIS, FAMILIALSTAT1
IL12B, NKSF2
IFNGR1
IL12RB1
IFNGR2, IFNGT1, IFGR2
5ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORMPEX10, NALD
PEX13, ZWS, NALD
PEX1, ZWS1
PEX5, PXR1, PTS1R
PEX26
5HSCR1PMX2B, NBPHOX, PHOX2B, NBLST2
GDNF
RET, MEN2A
EDN3, WS4B, HSCR4
L1CAM, CAML1, HSAS1
5BLADDER CANCERFGFR3, ACH
TACC3
HRAS
KRAS, KRAS2, RASK2, NS
RB1
4HEPATITIS C VIRUS, SUSCEPTIBILITY TOPTPRC, CD45, LCA
CCR5, CMKBR5, CCCKR5, IDDM22
IFNG, IFG, IFI
IL28B
4SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVEPTPRC, CD45, LCA
IL7R, IL7RA, CD127
CD3D, T3D
CD3E
4MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCYMUSK
RAPSN, CMS1D, CMS1E
CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D
CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D
4MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1LRP8, APOER2, MCI1
TNFSF4, GP34, OX4OL
GCLC, GLCLC
ESR1, ESR
4ENDOMETRIAL CANCERMSH6, GTBP, HNPCC5
PTEN, MMAC1, GLM2
MLH3, HNPCC7
CDH1, UVO, LCAM, ECAD
4PNDMGCK, HHF3
INS, MODY10, IDDM2
ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2
KCNJ11, BIR, PHHI, HHF2, TNDM3
4BROVCA1PIK3CA
PRKN, PARK2, PDJ, LPRS2
AKT1
BRCA1, PSCP, BROVCA1, PNCA4
4GEFS+GABRD, GEFSP5, EIG10, EJM7
SCN1A, GEFSP2, SMEI, FEB3A
GABRG2, GEFSP3, CAE2, ECA2
SCN1B, GEFSP1
4THALASSEMIASLCRB
HBB
HBA1
HBA2
4DA2BTPM2, TMSB, AMCD1, DA1, DA2B, NEM4
TNNI2, AMCD2B, DA2B, FSSV
TNNT3, AMCD2B, DA2B, FSSV
MYH3
4NEURAL TUBE DEFECTS, FOLATE-SENSITIVEMTHFR
MTR
MTRR
MTHFD, MTHFC
4SCCMSCHRNA1, ACHRD, CMS2A, SCCMS, FCCMS
CHRND, ACHRD, SCCMS, CMS2A, FCCMS
CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D
CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D
4MISMATCH REPAIR CANCER SYNDROMEMSH2, COCA1, FCC1, HNPCC1
MSH6, GTBP, HNPCC5
MLH1, COCA2, HNPCC2
PMS2, PMSL2, HNPCC4
4RTDREN, HNFJ2
AGT, SERPINA8
AGTR1, AGTR1A, AT2R1
ACE, DCP1, ACE1, MVCD3
4OSTEOGENIC SARCOMARB1
TP53, P53, LFS1
LOH18CR1, OSTS
CHEK2, RAD53, CHK2, CDS1, LFS2
4MAPLE SYRUP URINE DISEASEDBT, BCATE2
BCKDHB, E1B
DLD, LAD, PHE3
BCKDHA, MSUD1
4CTHMCFC1, CRYPTIC, HTX2
NKX2-6, CSX2
GDF1
TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR
4BARE LYMPHOCYTE SYNDROME, TYPE IIRFX5
RFXAP
MHC2TA, C2TA
RFXANK
4CMHCAV3, LGMD1C, LQT9
SLC25A4, ANT1, T1, PEO3, PEO2
MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD
MYLK2, MLCK
4TOBACCO ADDICTION, SUSCEPTIBILITY TOSLC6A3, DAT1
GPR51, GABBR2
CYP2A6, CYP2A3, CYP2A, P450C2A
CHRNA4, ENFL1
4FTCNRAS, ALPS4, NS6
MINPP1, HIPER1
PTEN, MMAC1, GLM2
HRAS
4TETRALOGY OF FALLOTNKX2E, CSX, CHNG5
ZFPM2, FOG2, DIH3
GDF1
JAG1, AGS, AHD
4PULMONARY FIBROSIS, IDIOPATHICTERC, TRC3, TR
TERT, TCS1, EST2
SFTPA2, SPA2, COLEC5
SFTPA1, SFTP1
4PCTTCTRC, CLCR
SPINK1, PSTI, PCTT, TATI
CFTR, ABCC7, CF, MRP7
PRSS1, TRY1
4HYPEREKPLEXIA, HEREDITARYGLRB
GLRA1, STHE
SLC6A5, GLYT2
GPHN, GPH, KIAA1385, GEPH
4HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTASMPZ, CMT1B, CMTDI3, CHM, DSS
EGR2, KROX20
PMP22, CMT1A, CMT1E, DSS
PRX, CMT4F
4BWSNSD1, ARA267, STO
CDKN1C, KIP2, BWS
H19, D11S813E, ASM1, BWS, WT2
KCNQ10T1, LIT1
4MSPDCD1, SLEB2
HLA-DQB1, CELIAC1
HLA-DR1B, SS1
CD24
4COUMARIN RESISTANCECYP2C9
VKORC1, VKOR, VKCFD2, FLJ00289
CYP2A6, CYP2A3, CYP2A, P450C2A
F9, HEMB
4CARDIOFACIOCUTANEOUS SYNDROMEBRAF
KRAS, KRAS2, RASK2, NS
MAP2K1, PRKMK1, MKK1, MEK1
MAP2K2, PRKMK2, MEK2, MKK2
4ALS1DCTN1, HMN7B
PRPH
SOD1, ALS1
NEFH
3CHONDROSARCOMA, EXTRASKELETAL MYXOIDTFG
CSMF
TAF15, TAF2N, RBP56
3HEPATITIS B VIRUS, SUSCEPTIBILITY TOIFNGR1
CRFB4, IBD25
IFNAR2
3APLASTIC ANEMIATERC, TRC3, TR
TERT, TCS1, EST2
IFNG, IFG, IFI
3MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNELCHRNA1, ACHRD, CMS2A, SCCMS, FCCMS
CHRND, ACHRD, SCCMS, CMS2A, FCCMS
CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D
3JMMLARHGAP26, GRAF
PTPN11, PTP2C, SHP2, NS1
NF1, VRNF, WSS, NFNS
3FHCAEPHX1
TJP2, ZO2
BAAT
3MENINGIOMA, FAMILIALPTEN, MMAC1, GLM2
NF2
MN1, MGCR
3PULMONARY DISEASE, CHRONIC OBSTRUCTIVEMMP1, CLG
SERPINA1, PI, AAT
HMOX1
3PARAGANGLIOMA AND GASTRIC STROMAL SARCOMASDHB, SDH2, SDHIP, PGL4
SDHC, PGL3
SDHD, PGL1
3GCEAMT, NKH, GCE
GLDC, HYGN1, GCSP, GCE, NKH
GCSH, NKH
3BCC1PTCH2
RASA1, GAP, CMAVM, PKWS
PTCH1, NBCCS, BCNS, HPE7
3RENAL CELL CARCINOMA, PAPILLARYPRCC, RCCP1
MET, AUTS9
TFE3
3LYMPHOMA, NON-HODGKIN, FAMILIALRAD54L, HR54, HRAD54
CASP10, MCH4, ALPS2
PRF1, HPLH2, FLH2
3BARE LYMPHOCYTE SYNDROME, TYPE ITAP1, ABCB2, TAP1, RING4, PSF1
TAP2, ABCB3, PSF2, RING11
TAPBP, TPSN
3PETERS ANOMALYCYP1B1, GLC3A
PITX2, IDG2, RIEG1, RGS, IGDS2
PAX6, AN2, MGDA
3CATARACT, AUTOSOMAL DOMINANTBFSP2, CP49, CP47
PAX6, AN2, MGDA
MIP, AQP0
3OMENN SYNDROMEDCLRE1C, ARTEMIS, SCIDA
RAG1
RAG2
3PHP1BGNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C
GNASAS, NESPAS
STX16, SYN16
3HEMANGIOMA, CAPILLARY INFANTILEANTXR1, TEM8, ATR
KDR
FLT4, VEGFR3, PCL, LMPH1A
3PDBPDB4
SQSTM1, P62, PDB3
TNFRSF11A, RANK, ODFR, OFE, OPTB7
3TTDPERCC3, XPB
GTF2H5, TTDA, TFB5, C6orf175
ERCC2, EM9, XPD, COFS2
3HNSCCTNFRSF10B, DR5, TRAILR2
PTEN, MMAC1, GLM2
ING1
3RMS2PAX7, RMS2
PAX3, WS1, HUP2, CDHS, WS3
FOXO1A, FKHR
3IBD1IL6, IFNB2, BSF2, HSF, HGF
IBD4
NOD2, CARD15, IBD1, CD, ACUG, PSORAS1
3REFSUM DISEASE, INFANTILE FORMPEX1, ZWS1
PXMP3, PAF1, PMP35, PEX2
PEX26
3PXEABCC6, ARA, ABC34, MLP1, PXE
XYLT1, XT1
XYLT2, XT2
3PHA1SCNN1A, BESC2
SCNN1B, BESC1
SCNN1G, PHA1, BESC3
3UCMDCOL6A3
COL6A1, OPLL
COL6A2
3MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPECHRNA1, ACHRD, CMS2A, SCCMS, FCCMS
CHRND, ACHRD, SCCMS, CMS2A, FCCMS
CHRNG, ACHRG
3MOLYBDENUM COFACTOR DEFICIENCYMOCS2, MPTS
MOCS1, MOCOD
GPHN, GPH, KIAA1385, GEPH
3MCPH1MCPH1
MCPH4
MCPH2
3IMINOGLYCINURIASLC6A20, XT3
SLC6A19, HND
SLC36A2, PAT2
3NCIE1TGM1, ICR2, LI1
ALOX12B
ALOXE3
3AHUS1CFHR1, FHR1, HFL1, CFHL1
CFHR3, FHR3, HLF4, CFHL3
HF1, CFH, HUS, ARMD4, AHUS1
3MADDETFDH, MADD
ETFA, GA2, MADD
ETFB, MADD
3BSSGP9
GP1BA
GP1BB
3EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPELAMC2, LAMNB2, LAMB2T
LAMB3
LAMA3, LOCS
3DFNB1AGJB3, CX31, DFNA2B
GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID
GJB6, CX30, DFNA3B, HED, ED2, DFNB1B
3CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ILOX
EFEMP2, FBLN4, UPH1
FBLN5, ARMD3
3COACH SYNDROMECC2D2A, KIAA1345, MKS6
TMEM67, MKS3, JBTS6
RPGRIP1L, KIAA1005, JBTS7, MKS5
3HFTCGALNT3, HHS, HFTC
FGF23, ADHR, HPDR2, PHPTC
KL, KLOTHO
3WT1WT1, NPHS4
BRCA2, FANCD1, BROVCA2, GLM3, PNCA2
GPC3, SDYS, SGBS1
3THROMBOPHILIAMTHFR
HABP2, PHBP, HGFAL, FSAP
F2
3THROMBOCYTHEMIA, ESSENTIALMPL, TPOR, MPLV
THPO, MGDF, MPLLG, TPO
JAK2
3NEURAL TUBE DEFECTSVANGL1, STBM2
T, TFT
CCL2, SCYA2, MCP1, MCAF
3PDADH1C, ADH3
TBP, SCA17, HDL4
MAPT, MTBT1, DDPAC, MSTD
3OVARIAN CANCERCTNNB1
OPCML
CDH1, UVO, LCAM, ECAD
3OCDBDNF
HTR2A
SLC6A4, HTT, OCD1
3IGAN1SELE, ELAM1
SELL, LYAM1, LAM1, LNHR
PIGR
3MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANTMTMR14, C3orf29, HJUMPY
MYF6
DNM2, CMTDIB, CMTDI1, CMT2M
3BETHLEM MYOPATHYCOL6A3
COL6A1, OPLL
COL6A2
3MONILETHRIXKRT81, KRTHB1, HB1
KRT83, KRTHB3, HB3
KRT86, KRTHB6, HB6
3MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1EDNRA
TNF, TNFA
ESR1, ESR
3MDBPTCH2
SUFU, SUFUXL, SUFUH
BRCA2, FANCD1, BROVCA2, GLM3, PNCA2
3LADDFGFR3, ACH
FGF10
FGFR2, BEK, CFD1, JWS
3FIHCASR, HHC1, PCAR1, FIH, EIG8
GCMB
PTH
3HYPERTRIGLYCERIDEMIA, FAMILIALRP1, ORP1
APOA5
LIPI, LPDL, PRED5
3EPPKKRT1, EPPK, NEPPK, EHK
KRT9, EPPK
KRT16, FNEPPK
3HEINZ BODY ANEMIASHBB
HBA1
HBA2
3GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASISSLC6A20, XT3
SLC6A19, HND
SLC36A2, PAT2
3POAGCYP1B1, GLC3A
GLC1B
OPTN, GLC1E, FIP2, HYPL, NRP, ALS12
3FUNDUS ALBIPUNCTATUSPRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2
RDH5
RLBP1
3EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZEDKRT5, DDD
ITGB4
KRT14
3EHLERS-DANLOS SYNDROME, TYPE ICOL5A2
COL5A1
COL1A1
3DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANTTERC, TRC3, TR
TERT, TCS1, EST2
TINF2, TIN2
3MITOCHONDRIAL COMPLEX III DEFICIENCYBCS1L, FLNMS, GRACILE, BJS, PTD
UQCRQ, QPC
UQCRB, UQBP, QPC
3ASUBE3A, ANCR
CDKL5, STK9, ISSX
MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16
3AMYLOIDOSIS, FAMILIAL VISCERALFGA
APOA1
LYZ
3PITUITARY ADENOMA, GROWTH HORMONE-SECRETINGAIP, XAP2, ARA9
SSTR5
GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C
2IGHD1BGHRHR, GHRFR, IGHD1B
GH1, GHN, IGHD1B
2COWDEN-LIKE SYNDROMESDHB, SDH2, SDHIP, PGL4
SDHD, PGL1
2LNCR2CHRNA3, LNCR2, PAOD2
CHRNA5, LNCR2
2IPD1TIRAP
IRAK4, REN64, IPD1
2ARMD4HF1, CFH, HUS, ARMD4, AHUS1
FKBP10, FKBP65, OI6
2TRIFUNCTIONAL PROTEIN DEFICIENCYHADHA, MTPA
HADHB
2SCA8ATXN8
ATXN8OS, SCA8, KLHL1AS
2SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TOHLA-A
HLA-B, SPDA1
2PERRSRGS9, PERRS
RGS9BP, R9AP, RGS9, PERRS
2AITD3ZFAT1, ZNF406, AITD3
TG, AITD3, TDH3
2MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSETPRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2
BEST1, VMD2, ARB, RP50
2ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSISKRT1, EPPK, NEPPK, EHK
KRT10, EHK, BCIE, BIE
2PSORIATIC ARTHRITIS, SUSCEPTIBILITY TOLTA, TNFB
NOD2, CARD15, IBD1, CD, ACUG, PSORAS1
2SMEISCN1A, GEFSP2, SMEI, FEB3A
GABRG2, GEFSP3, CAE2, ECA2
2ANON1BDNF
HTR2A
2GISTKIT, PBT
PDGFRA
2LAMTSC1, LAM
TSC2, LAM
2GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TOOPA1, NTG, NPG
OPTN, GLC1E, FIP2, HYPL, NRP, ALS12
2RMDRMD1
CAV3, LGMD1C, LQT9
2PROPIONIC ACIDEMIAPCCB
PCCA
2NEUROPATHY, CONGENITAL HYPOMYELINATINGMPZ, CMT1B, CMTDI3, CHM, DSS
EGR2, KROX20
2CORTISONE REDUCTASE DEFICIENCYH6PD, GDH, G6PDH
HSD11B1, HSD11, HSD11L
2FEB3ASCN1A, GEFSP2, SMEI, FEB3A
SCN9A, NENA, PN1, FEB3B
2ARVD5TMEM43, ARVD5, ARVC5
LAMR1, LAMBR
2FPLD3PPARG, PPARG1, PPARG2, CIMT1, GLM1
PPP1R3A, PPP1R3
2CCLCRYGC, CRYG3, CCL
CRYBB2, CRYB2
2RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILEIL6, IFNB2, BSF2, HSF, HGF
MIF
2ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCYTMEM70
ATPAF2, ATP12
2SHORT STATURE, IDIOPATHIC, AUTOSOMALGHSR
GHR
2HYPOALPHALIPOPROTEINEMIA, PRIMARYABCA1, ABC1, HDLDT1, TGD
APOA1
2BARTTER SYNDROME, TYPE 4ACLCNKB
BSND
2OPLLENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2
COL6A1, OPLL
2SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVERAG1
RAG2
2DIABETES MELLITUS, TRANSIENT NEONATAL, 1ZFP57, TNDM1
PLAGL1, ZAC, LOT1
2DFNB12ATP2B2, PMCA2
CDH23, USH1D
2USH1DCDH23, USH1D
PCDH15, DFNB23, USH1F
2NEPPKKRT1, EPPK, NEPPK, EHK
KRT16, FNEPPK
2BUDD-CHIARI SYNDROMEF5
JAK2
2HMN5GARS, SMAD1, CMT2D, HMN5
BSCL2, SPG17, HMN5
2EVAFOXI1, FKHL10, FREAC6
SLC26A4, PDS, DFNB4, EVA, TDH2B
2AVSDAVSD1, AVCD
GJA1, CX43, ODDD, SDTY3, ODOD, HSS
2FTDPSEN1, AD3
MAPT, MTBT1, DDPAC, MSTD
2HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TOIFNGR1
PTPRZ1, PTP18
2CBBMOPN1MW, GCP, CBD, CBBM
OPN1LW, RCP, CBP, CBBM
2ISSSHOX, GCFX, SS, PHOG
SHOXY
2BMDMYF6
DMD, BMD, CMD3B
2RESTRICTIVE DERMOPATHY, LETHALZMPSTE24, FACE1, STE24, MADB
LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
2TESTICULAR TUMORSKIT, PBT
STK11, PJS, LKB1
2REFSUM DISEASE, ADULTPEX7, RCDP1
PHYH, PAHX
2ACDMPVCPS1
FOXF1, FKHL5, ACDMPV
2PMDSAMHR2, AMHR
AMH, MIF
2MEGALOBLASTIC ANEMIA 1CUBN, IFCR, MGA1
AMN
2PANCREATIC CARCINOMAKRAS, KRAS2, RASK2, NS
TP53, P53, LFS1
2OSTEOGENESIS IMPERFECTA, TYPE IIICOL1A2
COL1A1
2NEUROBLASTOMA, SUSCEPTIBILITY TOKIF1B, CMT2A, CMT2A1, NBLST1
NME1, NM23
2MYOCLONIC EPILEPSY OF LAFORANHLRC1, EPM2A, EPM2B
EPM2A, MELF, EPM2
2MYASTHENIA, LIMB-GIRDLE, FAMILIALAGRN
DOK7, C4orf25, CMS1B
2SMA3SMN1, SMA1, SMA2, SMA3, SMA4
SMN2
2MITOCHONDRIAL COMPLEX II DEFICIENCYSDHA, SDH1, SDHF, CMD1GG
SDHAF1
2LANGER MESOMELIC DYSPLASIASHOX, GCFX, SS, PHOG
SHOXY
2STGD1ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2
CNGB3, ACHM3, ACHM1
2COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMASRAG1
RAG2
2GLYCOGEN STORAGE DISEASE IcSLC17A3, NPT4
SLC37A4, G6PT1
2F5F8DMCFD2
LMAN1, ERGIC53, F5F8D, MCFD1
2SHEP1OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1
HERC2, SHEP1
2EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIAITGA6
ITGB4
2RDEBCOL7A1
MMP1, CLG
2EVTMC8, EVER2, EV2
TMC6, EVER1, EV1
2EVCEVC
LBN, EVC2
2ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVEEDARADD, ED3, EDA3
EDAR, DL, ED3, EDA3, HRM1
2DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVENOLA2, NHP2
NOLA3, NOP10
2PLOSLTREM2
TYROBP, PLOSL, DAP12
2DWSZIC4
ZIC1
2MITOCHONDRIAL COMPLEX IV DEFICIENCYFASTKD2, KIAA0971
COX6B1
2CYSTINURIASLC3A1, ATR1, D2H, NBAT
SLC7A9, CSNU3
2CFCFTR, ABCC7, CF, MRP7
TGFB1, DPD1, CED
2CRYPTORCHIDISM, UNILATERAL OR BILATERALLGR8, GREAT
INSL3
2FRASER SYNDROMEFRAS1
FREM2
2CIRRHOSIS, FAMILIALKRT8
KRT18
2OSMEDCOL11A2, STL3, DFNA13, DFNB53
COL2A1
2CHARGE SYNDROMESEMA3E, SEMAH, KIAA0331
CHD7, IS3, KAL5
2CDHLA-DQA1, CELIAC1
HLA-DQB1, CELIAC1
2BESC1CFTR, ABCC7, CF, MRP7
SCNN1B, BESC1
2SITOSTEROLEMIAABCG5
ABCG8, GBD4
2AUTISMNRXN1, PTHSL2
GLO1
2ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCEPTGER2
TBX21, TBET
2FADSDOK7, C4orf25, CMS1B
RAPSN, CMS1D, CMS1E
2ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVESLC25A38
GLRX5, C14orf87, PRO1238, FLB4739
2ALPORT SYNDROME, AUTOSOMAL RECESSIVECOL4A3
COL4A4
2ALEXANDER DISEASENDUFV1, UQOR1
GFAP
2OCA2OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1
MC1R, SHEP2, CMM5
2AFIBRINOGENEMIA, CONGENITALFGA
FGB
2LIPOID CONGENITAL ADRENAL HYPERPLASIASTAR
CYP11A, P450SCC
2WHITE SPONGE NEVUS OF CANNONKRT4, CYK4
KRT13
2VHLVHL
CCND1, PRAD1, BCL1
2RENAL ADYSPLASIARET, MEN2A
UPK3A, UPK3, UPIII
2TSTSC1, LAM
TSC2, LAM
2DOWN SYNDROMEMTR
GATA1, GF1, ERYF1, NFE1, XLTT
2PEE1EPHX1
NOS3
2SYM1NOG, SYM1, SYNS1
GDF5, CDMP1, SYNS2, OS5
2RSTSCREBBP, CBP, RSTS
EP300
2ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIAMPZ, CMT1B, CMTDI3, CHM, DSS
PMP22, CMT1A, CMT1E, DSS
2PPH1BMPR2, PPH1
MADH9, SMAD9, MADH6
2LIDDLE SYNDROMESCNN1B, BESC1
SCNN1G, PHA1, BESC3
2PWSNDN
SNRPN
2PORPHYRIA VARIEGATAPPOX
HFE, HLA-H, HFE1, MVCD7
2PORPHYRIA CUTANEA TARDAUROD
HFE, HLA-H, HFE1, MVCD7
2JPSBMPR1A, ACVRLK3, ALK3
MADH4, DPC4, SMAD4, JIP
2PCLDSEC63
PRKCSH, G19P1, PCLD
2PICK DISEASE OF BRAINPSEN1, AD3
MAPT, MTBT1, DDPAC, MSTD
2PC2KRT6B, PC2
KRT17, PC2, PCHC1
2PC1KRT6A
KRT16, FNEPPK
2OSTEOGENESIS IMPERFECTA, TYPE IVCOL1A2
COL1A1
2OSTEOGENESIS IMPERFECTA, TYPE IIACOL1A2
COL1A1
2NEVUS, EPIDERMALPIK3CA
FGFR3, ACH
2NRCLP1HCRT, OX, NRCLP1
NLC1A
2MYOCLONIC DYSTONIASGCE, DYT11
DRD2
2MTSMSH2, COCA1, FCC1, HNPCC1
MLH1, COCA2, HNPCC2
2MTCNTRK1, TRKA, MTC
RET, MEN2A
2LFS1CDKN2A, MTS1, P16, MLM, CMM2
TP53, P53, LFS1
2PHA2WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2
WNK4, PRKWNK4, PHA2B
2HRPT1HRPT2, C1orf28
MEN1
2HBFQTL1HBG1
HBG2
2GLM1PPARG, PPARG1, PPARG2, CIMT1, GLM1
ERBB2, NGL, NEU, HER2
2GLC1AMYOC, TIGR, GLC1A, JOAG, GPOA
CYP1B1, GLC3A
2EKVGJB3, CX31, DFNA2B
GJB4, CX30.3
2PILOMATRIXOMAMUTYH, MYH
CTNNB1
2EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZEDKRT5, DDD
KRT14
2EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPEKRT5, DDD
KRT14
2EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANTCOL1A2
COL1A1
2EHLERS-DANLOS SYNDROME, TYPE IIICOL3A1
TNXB, TNX, TNXB1, TNXBS, TNXB2
2HEDEDARADD, ED3, EDA3
EDAR, DL, ED3, EDA3, HRM1
2DLBSNCA, NACP, PARK1, PARK4
SNCB
2LWDSHOX, GCFX, SS, PHOG
SHOXY
2CUTIS LAXA, AUTOSOMAL DOMINANTELN
FBLN5, ARMD3
2CJDHLA-DQB1, CELIAC1
PRNP, PRIP
2JWSFGFR1, FLT2, KAL2, OGD
FGFR2, BEK, CFD1, JWS
2MECDKRT3
KRT12
2COLOBOMA, OCULARSHH, HPE3, HLP3, SMMCI, MCOPCB5
PAX6, AN2, MGDA
2CPISATB2, KIAA1034
UBB
2OFC1MTHFR
MTR
2CMD1ALMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
MYBPC3, CMH4
2EHKKRT1, EPPK, NEPPK, EHK
KRT10, EHK, BCIE, BIE
2BDA2BMPR1B, ALK6
GDF5, CDMP1, SYNS2, OS5
2BDA1IHH, BDA1
BDA1B
2BLOOD GROUP, P SYSTEMB3GALT3, GLCT3, P
A4GALT, PK
2ASMDFOXE3, FKHL12, ASMD
PITX3, CTPP4
2ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESSMITF, WS2A
TYR, SHEP3
2GLOBOZOOSPERMIASPATA16
GOPC, PIST, FIG, CAL
2PFEIFFER SYNDROMEFGFR1, FLT2, KAL2, OGD
FGFR2, BEK, CFD1, JWS
2SCSTWIST1, ACS3, SCS, CRS1
FGFR2, BEK, CFD1, JWS
1F2
1CENPJ, CPAP, MCPH6, SCKL4
1SOX17, VUR3
1KLF1, EKLF, INLU, HBFQTL6
1MTPAP, PAPD1, SPAX4
1SOBP, JXC1, MRAMS
1FOXP1, QRF1
1MED17, CRSP6, CRSP77, TRAP80, DRIP80
1POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS
1ALG11, KIAA1266, CDG1P
1CDHR1, PCDH21, PRCAD, CORD15
1IDH2, IDPM, D2HGA2
1KCNK18, TRESK, TRIK, MGR13
1CD320, 8D6, 8D6A, TCBLR
1UCHL1, PARK5
1SDHA, SDH1, SDHF, CMD1GG
1KARS, CMTRIB
1SPTLC2, KIAA0526, SPT2, LCB2, HSN1C, NSAN1C
1CHUK, IKBKA, NFKBIKA, IKKA, IKK1
1ZNF513, RP58
1DHDPSL, HP3
1ARL6, BBS3, RP55
1PVRL4, PRR4, EDSS1
1KLF1, EKLF, INLU, HBFQTL6
1CYP19A1, CYP19, ARO
1TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1
1GYG1, GSD15
1LRRC8A, KIAA1437, AGM5
1BLNK, SLP65, AGM4
1IGLL1, IGO, IGL5, VPREB2, AGM2
1CD81, TAPA1, CVID6
1MS4A1, CD20, CVID5
1TNFRSF13C, BAFFR, CVID4
1CD19, CVID3
1SERPINA1, PI, AAT
1COG4, COD1, CDG2J
1DDIT3, GADD153, CHOP10
1KCNJ5, GIRK4, KATP1, LQT13
1GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C
1SPTAN1, NEAS, EIEE5
1LBR, PHA
1GPI
1TTC8, BBS8, RP51
1GCKR, GKRP, FGQTL5
1ALX1, CART1, FND3
1FOXG1B, FKHL1, FKH2, QIN, BF1
1SERPINB6, PI6, PTI, SPI3, DFNB91
1ALX4, PFM2, FPP, FND2
1MEF2C, C5DELq14.3; DEL5q14.3
1SHANK2, CORTBP1, AUTS17
1OPTN, GLC1E, FIP2, HYPL, NRP, ALS12
1C2orf71
1MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD
1ACTC1, CMD1R, CMH11, ASD5, LVNC4
1MIR2861, MIRN2861, BMND15
1GRK1, RHOK, RK
1SLC9A9, AUTS16
1VIPAR, SPE39, C14orf133
1PNKP, PNK, MCSZ
1RAD51C, FANCO, BROVCA3
1DDX11, CHLR1, KRG2
1CD207, LANGERIN, CLEC4K
1PTPRQ, PTPGMC1, DFNB84
1RAD51C, FANCO, BROVCA3
1SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2
1ITCH, AIP4, NAPP1
1PTHLH, BDE2
1HSPB3, HSPL27, HMN2C, DHMN2C
1BLK, MODY11
1INS, MODY10, IDDM2
1SH3TC2, KIAA1985, MNMN
1PALB2, FANCN, PNCA3
1BRCA2, FANCD1, BROVCA2, GLM3, PNCA2
1SCN4A, HYPP, NAC1A, HOKPP2
1LRAT, LCA14
1NKX3-2, BAPX1, SMMD
1PAI1, PLANH1, SERPINE1
1PTRF, CAVIN, CGL4
1SMARCA4, BRG1, RTPS2
1ANO5, TMEM16E, GDD1, LGMD2L
1HAMP, LEAP1, HEPC, HFE2B
1ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2
1TSPAN12, NET2, EVR5
1RPS26, DBA10
1RPS10, DBA9
1TPRN, C9orf75, DFNB79
1SLC10A2, NTCP2, PBAM
1AARS, CMT2N
1TNNI3, CMH7, CMD2A, RCM1, CMD1FF
1GRXCR1
1ZEB1, TCF8, NIL2A, PPCD3, FECD6
1SLC4A11, BTR1, NABC1, CHED2, CDPD, FECD4
1SOX10, WS4, WS4C, PCWH
1EDN3, WS4B, HSCR4
1VCL, CMD1W, CMH15
1IFNG, IFG, IFI
1MYH6, ASD3, MYHCA, CMD1EE, CMH14
1MYH6, ASD3, MYHCA, CMD1EE, CMH14
1EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8
1TNNC1, CMD1Z, CMH13
1KCNJ18, KIR2.6, TTPP2
1INF2, FSGS5, C14orf173
1F13B
1SLITRK1, KIAA1910, TTM
1CA8, CALS, CARP, CAMRQ3
1F13A1, F13A
1NRAS, ALPS4, NS6
1TLR1, TIL. LPRS5
1EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8
1TRPM1, MLSN1, CSNB1C
1WDR72, AI2A3
1GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C
1MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCYITGA7
1WEILL-MARCHESANI-LIKE SYNDROMEADAMTS17
1RP50BEST1, VMD2, ARB, RP50
1CILD13LRRC50, ODA7, CILD13
1MRT13TRAPPC9, NIBP, KIAA1882, MRT13
1POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIATUBA8, TUBAL2
1PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPNP, NP
1CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIESLTBP4, LTBP4S, LTBP4L
1CMD1DDRBM20
1GABA-TRANSAMINASE DEFICIENCYABAT, GABAT
1BETA-UREIDOPROPIONASE DEFICIENCYUPB1, BUP1
1POMT2, MDDGA2, MDDGB2, MDDGC2
1POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3
1POMT2, MDDGA2, MDDGB2, MDDGC2
1POMT1, MDDGA1, MDDGB1, MDDGC1
1LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6
1FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5
1FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4
1POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3
1POMT2, MDDGA2, MDDGB2, MDDGC2
1PARKINSONISM-DYSTONIA, INFANTILESLC6A3, DAT1
1BRUGADA SYNDROME 8HCN4, SSS2
1CMD1CCNEXN, NELIN, CMD1CC
1BRUGADA SYNDROME 7SCN3B, SCNB3
1BRUGADA SYNDROME 6KCNE3, HOKPP, HYPP
1ANTITHROMBIN III DEFICIENCYAT3
1THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCYHRG
1HSAN2BFAM134B, HSAN2B
1MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATEDTUBB1
1CANDF4CLEC7A, CLECSF12, DECTIN1, CANDF4
1SCN2GFI1, ZNF163, SCN2
1CACD2PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2
1HYPOTRICHOSIS AND RECURRENT SKIN VESICLESDSC3, DSC4
1GLC1ONTF4 , NTF5, NT5, NT4, GLC1O
1CMM5MC1R, SHEP2, CMM5
1INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFICMC1R, SHEP2, CMM5
1STHAG6LTBP3, LTBP2, STHAG6
1PKD2PKD2
1MCOP4GDF6, CDMP2, MCOP4
1COD4PDE6C, PDEA2, COD4
1HNFJ2REN, HNFJ2
1ATD3DYNC2H1, DNCH2, DHC2, ATD3
1BARTTER SYNDROME, TYPE 4BCLCNKA
1ASD6TLL1, TLL, ASD6
1GLC3DLTBP2, LTBP3, GLC3D
146,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATEDCBX2, M33
1DFNB77LOXHD1, DFNB77
1NBSLDRAD50, NBSLD
1PEOA5RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B
1MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAYGFER, ERV1, ALR
1MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSISRIN2, MACS
1DFNA50MIR96, MIRN96, DFNA50
1MANDP2MMP9, CLG4B, MANDP2
1BESC3SCNN1G, PHA1, BESC3
1LIVER FAILURE, ACUTE INFANTILETRMU, MTO2, TRNT1
1NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCYFOLR1
1ALLBCR, CML, PHL, ALL
1EIG10GABRD, GEFSP5, EIG10, EJM7
1CPHD1POU1F1, PIT1, CPHD1
1GLM3BRCA2, FANCD1, BROVCA2, GLM3, PNCA2
1GLM2PTEN, MMAC1, GLM2
1GLYCOGEN STORAGE DISEASE IXcPHKG2, GSD9C
1BESC2SCNN1A, BESC2
1ARCC2EPHA2, ECK, ARCC2
1NBLST3ALK, NBLST3
1NBLST2PMX2B, NBPHOX, PHOX2B, NBLST2
1LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1ITK, EMT
1ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7TPH2, NTPH, ADHD7
1HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2TLR3
1FNEPPKKRT16, FNEPPK
1EDMD5SYNE2, NUANCE, KIAA1011, EDMD5
1EDMD4SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4
1MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVECATSPER1, CATSPER
1OPA7TMEM126A, OPA7
1SHORT SLEEPERBHLHE41, BHLHB3, DEC2, SHARP1
146,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH OR WITHOUT ADRENAL FAILURENR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7
1POF7NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7
1SYNS3FGF9, SYNS3
1VF2DPP6, VF2
1LQT12SNT1, LQT12
1MYOPATHY, MYOFIBRILLAR, BAG3-RELATEDBAG3
1DYSTONIA-PARKINSONISM, ADULT-ONSETPLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14
1AGS5SAMHD1, AGS5, DCIP
1LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALYRNASET2, RNASE6PL
1HYPOMYELINATION, GLOBAL CEREBRALSLC25A12, ARALAR
1RP42KLHL7, RP42
1ARCL2BPYCR1, PRO3, ARCL2B
1GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATHFTO
1CDG1ODPM3, CDG1O
1CPSQ3AP4M1, CPSQ3
1GSD14PGM1, GSD14
1GSD11LDHA, LDH1, GSD11
1GSD13ENO3, GSD13
1AHUS6THBD, THRM, AHUS6
1AHUS5C3, ARMD9, AHUS5
1AHUS4CFB, BF, GBG, AHUS4
1AHUS3CFI, FI, AHUS3
1AHUS2MCP, CD46, AHUS2
13M2OBSL1, KIAA0657, 3M2
1PPKS2DSP, KPPS2, PPKS2
1CPSQ2KANK1, KANK, ANKRD15, KIAA0172
1EIG8CASR, HHC1, PCAR1, FIH, EIG8
1CMD1BBDSG2, ARVD10, ARVC10, CMD1BB
1ERYTHROCYTE AMP DEAMINASE DEFICIENCYAMPD3
1TAB2, MAP3K7IP2, KIAA0733, CHTD2
1INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCYIL1RN, MVCD4, DIRA
1SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPEPAPSS2, ATPSK2
1LAD3KIND3, URP2, MIG2B, FERMT3
1BRUGADA SYNDROME 5SCN1B, GEFSP1
1SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPEACAN, AGC1, CSPG1, MSK16, SEDK
1HDLCQ12LIPC, HL, LIPH, HDLCQ12
1ASD5ACTC1, CMD1R, CMH11, ASD5, LVNC4
1IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2STIM1
1IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1ORAI1, TMEM142A, CRACM1
1SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCEKCNJ10, SESAME
1CORD9ADAM9, MDC9, MCMP, CORD9
1PORPHYRIA, ACUTE HEPATICALAD, ALADH, PBGS
1GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCYGAMT
1ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCYGATM, AGAT
1DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCYSPR
1EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSISCOX4I2
1LCA13RDH12, LCA13
1MCPH7STIL, SIL, MCPH7
1KAL6FGF8, KAL6
1IMMUNODEFICIENCY, HYPOGAMMAGLOBULINEMIA, AND REDUCED B CELLSCD79B, IGB, B29
1SPH5EPB42, SPH5
1CORD12PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4
1EA6SLC1A3, EAAT1, EA6
1SPH4SLC4A1, AE1, EPB3
1MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR WITHOUT METABOLIC ABNORMALITIESPYCS, GSAS
1ECOICK, MRK, KIAA0936, ECO
1CILD12RSPH9, CILD12
1CILD11RSPH4A, CILD11
1DFNB1BGJB6, CX30, DFNA3B, HED, ED2, DFNB1B
1DFNA2BGJB3, CX31, DFNA2B
1DFNA3BGJB6, CX30, DFNA3B, HED, ED2, DFNB1B
1MVCD7HFE, HLA-H, HFE1, MVCD7
1MVCD6SOD2, MNSOD, MVCD6
1MVCD5PON1, PON, ESA, MVCD5
1ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TOAK1
1HRM1EDAR, DL, ED3, EDA3, HRM1
1MVCD4IL1RN, MVCD4, DIRA
1MVCD3ACE, DCP1, ACE1, MVCD3
1MVCD2EPO, MVCD2
1MRD5SYNGAP, MRD5
1MRD4KIRREL3, NEPH2, KIAA1867, KIRRE, MRD4
1MRD3CDH15, CDH14, CDH3, MRD3
1ALS11FIG4, KIAA0274, SAC3, ALS11
1IBD25CRFB4, IBD25
1DBA8RPS7, DBA8
1DBA7RPL11, DBA7
1DBA6RPL5, DBA6
1BMND12FBXO33, FBX33, BMND12
1ADIPQTL1ADIPOQ, APM1, GBP28, ADIPQTL1
1BROVCA2BRCA2, FANCD1, BROVCA2, GLM3, PNCA2
1FSGS4APOL1, FSGS4
1B12QTL1FUT2, SE, B12QTL1
1SCN4G6PC3, UGRP, SCN4
1MYOPATHY, CONGENITAL, COMPTON-NORTHCNTN1
1SPG42SLC33A1, ACATN, AT1
1AI2A2MMP20, AI2A2
1DBA5RPL35A, DBA5
1DBA4RPS17, RPS17L1, RPS17L2, DBA4
1CGL3CAV1, BSCL3, CGL3
1IDDM22CCR5, CMKBR5, CCCKR5, IDDM22
1IDDM20HNF1A, TCF1, MODY3, IDDM20
1CILD10KTU, C14orf104, CILD10
1PPHPGNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C
1PHP1CGNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C
1SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATIONZBTB16, ZNF145, PLZF
1COMPLEMENT COMPONENT 6 DEFICIENCYC6
1CILD9DNAI2, CILD9
1LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT DYSTONIAFA2H, FAAH, FAXDC1, FAH1, SCS7
1EPM1BPRICKLE1, RILP, EPM1B
1PREKALLIKREIN DEFICIENCYKLKB1, KLK3
1RCM3TNNT2, CMH2, CMD1D, RCM3, LVNC6
1FACTOR XI DEFICIENCYF11
1OS5GDF5, CDMP1, SYNS2, OS5
1BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESSPLOD3
1HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, HEARING LOSS, AND HYPOGONADISMSLC29A3, ENT3
1PCH2CTSEN34, PCH2C, LENG5, SEN34
1PCH2BTSEN2, SEN2, PCH2B
1SS2BTNL2, SS2
1COLOBOMA, OCULAR, AND ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIESSRD5A3, SRD5A2L, CDG1P
1APLRARA
1MAFD7XBP1, XBP2
1KAL5CHD7, IS3, KAL5
1BMIQ12PCSK1, NEC1, PC1, PC3, BMIQ12
1HEPARIN COFACTOR II DEFICIENCYHCF2, HC2, SERPIND1
1SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKESLC39A13
1THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATORPLAT, TPA
1JLNS2KCNE1, JLNS, LQT5, JLNS2
1THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANTPROS1
1PSEUDOFOLLICULITIS BARBAEKRT75, K6HF, PFB
1POF6FIGLA, POF6
1THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVEPROC, PC
1OPTB7TNFRSF11A, RANK, ODFR, OFE, OPTB7
1CD59 DEFICIENCYCD59, MIC11
1BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROMEKCNK9, TASK3
1JBTS8ARL13B, ARL2L1, JBTS8
1MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATEHOXA2
1NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2SLC9A3R1, EBP50, NHERF1, NPHLOP2
1NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2
1JBTS9CC2D2A, KIAA1345, MKS6
1MKS6CC2D2A, KIAA1345, MKS6
1ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, ICHTHYIN-RELATEDICHYN
1ECA5GABRB3, ECA5
1SHEP10TPCN2, TPC2, SHEP10
1IBD17IL23R, IBD17
1MYD88DMYD88, MYD88D
1SLEB11STAT4, SLEB11
1SLEB10IRF5, IBD14, SLEB10
1CANFGFR3, ACH
1IBD14IRF5, IBD14, SLEB10
1IBD13ABCB1, PGY1, MDR1, IBD13
1ATFB7KCNA5, ATFB7
1LEUKODYSTROPHY, HYPOMYELINATING, 4HSPD1, SPG13, HSP60, HLD4
1CRCS3SMAD7, MADH7, CRCS3
1KPDPAX4, MODY9, KPD
1MODY9PAX4, MODY9, KPD
1ESEWSR1, EWS
1ATFB6NPPA, PND, ANP, ATFB6
1EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4STXBP1, UNC18, EIEE4
1HISTIOCYTOMA, ANGIOMATOID FIBROUSCREB1
1CMD1AAACTN2, CMD1AA
1EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIAPLEC1, PLTN, EBS1
1ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANTNFKBIA, IKBA
1DYT18SLC2A1, GLUT1, DYT18, PED, ,GLUT1DS
1CMH12CSRP3, CRP3, CLP, CMD1M, CMH12
1TREHALASE DEFICIENCYTREH
1OCULOAURICULAR SYNDROMEHMX1, H6
1AUTS15CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1
1CMH11ACTC1, CMD1R, CMH11, ASD5, LVNC4
1RP41PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4
1ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROMERBM28
1RHUC2SLC2A9, GLUT9, UAQTL2
1MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVERRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B
1MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVESUCLA2, MTDPS5
1ALS10TARDBP, TDP43, ALS10
1DYT16PRKRA, PACT, RAX, DYT16
1RRQTL1RNF212, ZHP3
1SPG39PNPLA6, NTE, SPG39, NTEMND
1CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIASLC16A12, MCT12, CJMG
1SCAR9CABC1, COQ8, ADCK3, SCAR9, ARCA2
1CDG1NRFT1, CDG1N
1THC4CYCS, CYC, THC4
1ASRT7CHI3L1, GP39, YKL40, ASRT7
1ARMD11CST3, ARMD11
1RIDDLE SYNDROMERNF168
1ECA6CACNA1H, EIG6, ECA6
1CPVT2CASQ2
1HPC13MSMB, HPC13
1ALS9ANG, RNASE5, ALS9
1LAAHDGLE1, GLE1L, LCCS, LCCS1
1CILD7DNAH11, DNAHC11, CILD7, DNAHBL
1GSD12ALDOA, GSD12
1CMD2ATNNI3, CMH7, CMD2A, RCM1, CMD1FF
1CMD1ZTNNC1, CMD1Z, CMH13
1CMD1YTPM1, CMH3, CMD1Y
1BRUGADA SYNDROME 4CACNB2
1BRUGADA SYNDROME 3CACNA1C, CACNL1A1, CCHL1A1, TS
1HPC12EHBP1, KIAA0903, HPC12
1WBCQ1DARC, FY, GPD, WBCQ1
1LQT11AKAP9, YOTIAO, AKAP450
1LQT10SCN4B
1LQT9CAV3, LGMD1C, LQT9
1SERKALWNT4, SERKAL
1ARBBEST1, VMD2, ARB, RP50
1EL1EPB41, EL1
1AAT6ACTA2, ACTSA, AAT6
1ECYT4EPAS1, MOP2, HIF2A, ECYT4
1BRUGADA SYNDROME 2GPD1L, KIAA0089
1KAWASAKI DISEASEITPKC
1HANACCOL4A1
1LPGAPOE, AD2, LPG, LDLCQ5
1FCAS2NALP12, PYPAF7, RNO, FCAS2
1LCA10CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14
1SHEP9ASIP, AGTIL, SHEP9
1EPM3KCTD7, EPM3
1KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCYPSAP, SAP1
1COMBINED SAPOSIN DEFICIENCYPSAP, SAP1
1COXPD5MRPS22, C3orf5, COXPD5
1HOMG4EGF, URG, HOMG4
1MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHYTTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC
1SHEP7KITLG, MGF, SF, SCF, SHEP7
1MCOPCB5SHH, HPE3, HLP3, SMMCI, MCOPCB5
1CMD1XFKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4
1LIS3TUBA1A, TUBA3, LIS3
1CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1BFSP2, CP49, CP47
1RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIASLC4A1, AE1, EPB3
1LGMD2MFKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4
1WS2ESOX10, WS4, WS4C, PCWH
1MKS5RPGRIP1L, KIAA1005, JBTS7, MKS5
1JBTS7RPGRIP1L, KIAA1005, JBTS7, MKS5
1GLYCOGEN STORAGE DISEASE 0, MUSCLEGYS1, GYS
1LEOPARD SYNDROME 2RAF1, CRAF, NS5
1NS5RAF1, CRAF, NS5
1POF5NOBOX, POF5
1CATCN3CRYBB1, CATCN3
1ARVD12JUP, DP3, PDGB, ARVD12
1PCH6RARS2, RARSL, PCH6
1TYROSINE KINASE 2 DEFICIENCYTYK2
1NPHP7GLIS2, NPHP7
1OPTB6PLEKHM1, AP162, KIAA0356, OPTB6
1ATFB4KCNE2, MIRP1, LQT6, ATFB4
1OPTB4CLCN7, CLC7, OPTA2, OPTB4
1CORTICOSTEROID-BINDING GLOBULIN DEFICIENCYCBG, SERPINA6
1ARMD10TLR4, ARMD10
1GALLBLADDER DISEASE 4ABCG8, GBD4
1LAH3P2RY5, P2Y5, LAH3, ARWH1
1DFNB63LRTOMT, LRTOMT1, LRTOMT2, DFNB63
1LEGIUS SYNDROMESPRED1, NFLS
1CMD1WVCL, CMD1W, CMH15
1CATARACT, CORTICAL, JUVENILE-ONSETBFSP1, CP115
1USH2DWHRN, CIP98, KIAA1526, DFNB31, USH2D
1ARMD9C3, ARMD9, AHUS5
1BDB2NOG, SYM1, SYNS1
1LCCS3PIP5K1C, LCCS3
1ASD4TBX20, ASD4
1LGMD2LANO5, TMEM16E, GDD1, LGMD2L
1SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATIONNHEJ1, XLF
1ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCYACAD8
1FEB8GABRG2, GEFSP3, CAE2, ECA2
1ATD2IFT80, KIAA1374, WDR56, ATD2
1CMT4JFIG4, KIAA0274, SAC3, ALS11
1CDG2GCOG1, LDLB, KIAA1381, CDG2G
1CDG2HCOG8, DOR1, CDG2H
1EJM5GABRA1, EJM5, ECA4
1MKS4CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14
1RP37NR2E3, PNR, ESCS, RP37
1ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OFACAD9
1LBSLDARS2, ASPRS. LBSL
1MRT7TUSC3, M33, D8S1992, MRT7
1MRT6GRIK2, GLUR6, MRT6
1PMSESTRADA, STRAD, LYK5
1IBD10ATG16L1, APG16L, IBD10
1DSMA4PLEKHG5, KIAA0720, DSMA4
1ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5IRAK3, IRAKM, ASRT5
1MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSENMFRP, MCOP5
1MCOP3RAX, RX, MCOP3
1DFNB24RDX, DFNB24
1AUTS10EN2, AUTS10
1AUTS9MET, AUTS9
1PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCYPSAT1, PSAT, EPIP
1LEPROSY, SUSCEPTIBILITY TO, 4LTA, TNFB
1COMPLEMENT FACTOR I DEFICIENCYCFI, FI, AHUS3
1CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESSNKX2-1, TITF1, NKX2A, TTF1
1XFE PROGEROID SYNDROMEERCC4, XPF
1PTHSTCF4, SEF2, ITF2, PTHS
1CLN7MFSD8, MGC33302
1ADCAD2LRP6, ADCAD2
1CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7CD36, CHDS7
1SLEB9CR2, C3DR, SLEB9
1SMDP3ABCA3, ABC3, SMDP3
1OSTEOGENESIS IMPERFECTA, TYPE VIIILEPRE1, P3H1, GROS1, OI8
1SMDP2SFTPC, SFTP2, SMDP2
1BOR2SIX5, DMAHP, BOR2
1VUR2ROBO2, SAX3, KIAA1568
1OSTEOGENESIS IMPERFECTA, TYPE IIBCRTAP, CASP
1CILD6TXNDC3, SPTRX2, CILD6
1PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCYGGCX
1FANCONI ANEMIA, COMPLEMENTATION GROUP NPALB2, FANCN, PNCA3
1HPE9GLI2, HPE9
1HPE7PTCH1, NBCCS, BCNS, HPE7
1IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEINMAPBPIP, p14
1MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCYSLC25A3, PHC
1CDG1MTMEM15, DK1, SEC59, KIAA1094, CDG1M
1ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVEST14, MTSP1
1CDLS3CSPG6, SMC3, HCAP, BAM, CDLS3
1COFS4ERCC1, UV20, COFS4
1COFS2ERCC2, EM9, XPD, COFS2
1MEN4CDKN1B, KIP1, CDKN4, MEN4
1SCAR8SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4
1SCN3HAX1, SCN3
1NS4SOS1, GINGF, GF1, HGF, NS4
1NPHS3PLCE1, KIAA1516, NPHS3
1NLSDMPNPLA2, TTS2, ATGL
1BRACHYDACTYLY-SYNDACTYLY SYNDROMEHOXD13, HOX4I, SPD, BDSD
1DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIAFGF3, INT2
1JBTS6TMEM67, MKS3, JBTS6
1NEM7CFL2, NEM7
1OSTEOGENESIS IMPERFECTA, TYPE VIICRTAP, CASP
1COXPD4TUFM, EFTU, COXPD4
1XPBERCC3, XPB
1PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSALRSPO1, FLJ40906
1DIAMOND-BLACKFAN ANEMIA 3RPS24, DBA3
1KAL4PROK2, PK2, BV8, KAL4
1CTPP4PITX3, CTPP4
1HAE IIIF12, HAF, HAE3
1LCA12RD3, LCA12, C1orf36
1CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCYCYP11B2
1RP36PRCD, RP36
1DIABETES MELLITUS, TRANSIENT NEONATAL, 3KCNJ11, BIR, PHHI, HHF2, TNDM3
1HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1UNC93B1
1DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANSINSR, HHF5
1GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCYPSAP, SAP1
1LEUKODYSTROPHY, HYPOMYELINATING, 5FAM126A, DRCTNNB1A, HLD5
1MODY7KLF11, TIEG2, FKLF1, FKLF, MODY7
1COXPD3TSFM, COXPD3
1PPROMCBP2, SERPINH2, PPROM
1COXPD2MRPS16, COXPD2
1PPNAD1PRKAR1A, TSE1, CNC1, CAR, PPNAD1
1RCD4CACNA2D4, RCD4
1ARVD11DSC2, DSC3, ARVD11
1PPNAD2PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2
1CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROMEFGFR3, ACH
1THIOPURINE S-METHYLTRANSFERASE DEFICIENCYTPMT
1NFTCSAMD9, NFTC
1CHBLTREX1, AGS1, CRV, HERNS
1BURULI ULCER, SUSCEPTIBILITY TONRAMP1, NRAMP, SLC11A1
1CSNBAD1RHO, RP4, OPN2, CSNBAD1
1CSNBAD3GNAT1, CSNBAD3
1TESTICULAR MICROLITHIASISSLC34A2
1CSNB2BCABP4, CSNB2B
1MICROPHTHALMIA, ISOLATED, WITH CATARACT 4CRYBA4
1CATARACT, LAMELLAR 2CRYBA4
1CORD11RAXL1, QRX, CORD11, ARMD6
1LDS2BTGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B
1WEST NILE VIRUS, SUSCEPTIBILITY TOCCR5, CMKBR5, CCCKR5, IDDM22
1MEVALONIC ACIDURIAMVK, MVLK
1DIABETES MELLITUS, TRANSIENT NEONATAL, 2ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2
1DIAR4NEUROG3, NGN3, ATOH5
1RP33SNRNP200, ASCC3L1, KIAA0788, RP33
1RCD3BKCNV2, KV11.1, RCD3B
1EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4CHRNA2
1AGS4RNASEH2A, RNHIA, AGS4
1AGS3RNASEH2C, AYP1, FLJ20974, AGS3
1CISS2CLCF1, BSF3, CLC
1PARK13HTRA2, OMI, PARK13, PRSS25
1GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCYPIGM
1CORD10SEMA4A, SEMB, RP35, CORD10
1RP35SEMA4A, SEMB, RP35, CORD10
1DFNB67LHFPL5, TMHS, DFNB67
1APHAKIA, CONGENITAL PRIMARYFOXE3, FKHL12, ASMD
1CHROMOSOME 9q34.3 DELETION SYNDROMEEHMT1, EUHMTASE1, DEL9q34
1ALCOHOL SENSITIVITY, ACUTEALDH2
1SPG31REEP1, C2ORF23, SPG31
1SCA28AFG3L2, SCA28
1SCA23PDYN, SCA23
1SPG33ZFYVE27, SPG33
1SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTSZNF750, FLJ13841
1DFNB59PJVK, DFNB59
1NBIA2PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14
1ALGS2NOTCH2, AGS2
1DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISMGLIS3, ZNF515
13-@METHYLGLUTACONIC ACIDURIA, TYPE VDNAJC19, TIM14
1ARVD10DSG2, ARVD10, ARVC10, CMD1BB
1SLSN6CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14
1JBTS5CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14
1DIAPHRAGMATIC HERNIA 3ZFPM2, FOG2, DIH3
1AGS2RNASEH2B, DLEU8, FLJ11712, AGS2
1LDS1BTGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B
1IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETACD247, CD3Z, TCRZ
1MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENISINPP5E, MORMS, JBTS1, CORS1
1DFNB49MARVELD2, MARVD2, TRIC, DFNB49
1ARMD7HTRA1, PRSS11, ARMD7
1HEART-HAND SYNDROME, SLOVENIAN TYPELMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1PEOA4POLG2, POLGB, PEOA4
1CLN10CTSD, CPSD, CLN10
1MCOPS5OTX2, MCOPS5
1COMPLEMENT COMPONENT 7 DEFICIENCYC7
1MCOP2CHX10, HOX10, MCOP2, MCOPCB3
1MCOPCB3CHX10, HOX10, MCOP2, MCOPCB3
1PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCYPNPO
1HMPS2BMPR1A, ACVRLK3, ALK3
1OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1ME2, ODS1
1CSCDDCN, CSCD
1CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROMECNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1
1POLYMICROGYRIA, ASYMMETRICTUBB2B
1RCD3APDE6H, RCD3
1HHF7SLC16A1, MCT1, HHF7
1SYNS2GDF5, CDMP1, SYNS2, OS5
1GLUTAMINE DEFICIENCY, CONGENITALGLUL, GLNS
12-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCYACADSB, SBCAD
1CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANTCLN8, EPMR
1HHF4HADHSC, SCHAD, HHF4
1HHF5INSR, HHF5
1NOONAN SYNDROME 3KRAS, KRAS2, RASK2, NS
1SLEB6ITGAM, CR3A, CD11B, MAC1A, SLEB6
1AMINOACYLASE 1 DEFICIENCYACY1, ACY1D
1RP31TOPORS, P53BP3, LUN, RP31
1CMD1PPLN, PLB, CMD1P
1ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITYRAG1
1GLC1GWDR36, TAWDRP, GLC1G
1GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIAUMOD, HNFJ1, FJHN, MCKD2, ADMCKD2
1DFNB28TRIOBP, KIAA1662
1BLEEDING DISORDER DUE TO P2RY12 DEFECTP2RY12, P2Y12
1ERYTHROCYTOSIS, FAMILIAL, 3EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3
1COMPLEMENT FACTOR H DEFICIENCYHF1, CFH, HUS, ARMD4, AHUS1
1SCDO3LFNG, SCDO3
1MODY8CEL, BSSL, CELL, MODY8
1PEELING SKIN SYNDROME, ACRAL TYPETGM6, TGX
1CELIAC3CTLA4, IDDM12, CELIAC3, GRD4
1CELIAC4MYO9B, MYR5, CELIAC4
1CATCN2CRYBB3, CRYB3, CATCN2
1PROOPIOMELANOCORTIN DEFICIENCYPOMC
1DFNB53COL11A2, STL3, DFNA13, DFNB53
1THYROID HORMONE METABOLISM, ABNORMALSECISBP2, SBP2
1EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTICDSP, KPPS2, PPKS2
1HPE5ZIC2, HPE5
1FHM3SCN1A, GEFSP2, SMEI, FEB3A
1MAJEED SYNDROMELPIN2
1SQT3KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3
1SQT2KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2
1SQT1KCNH2, LQT2, HERG, SQT1
1PFM2ALX4, PFM2, FPP, FND2
1JBTS4NPHP1, NPH1, SLSN1, JBTS4
1SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATIONFGFR2, BEK, CFD1, JWS
1MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORMTK2, MTDPS2
1COMPLEMENT COMPONENT 5 DEFICIENCYC5
1DRUG METABOLISM, POOR, CYP2C19-RELATEDCYP2C, CYP2C19
1DFNB23PCDH15, DFNB23, USH1F
1IGAD2TNFRSF13B, TACI, CVID2
1CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROMESNAP29, CEDNIK
1FILAMINOPATHY, AUTOSOMAL DOMINANTFLNC, FLN2, ABPA, ABPL
1STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULARCOL2A1
1SARCOIDOSIS, EARLY-ONSETNOD2, CARD15, IBD1, CD, ACUG, PSORAS1
1GOLDBERG-SHPRINTZEN MEGACOLON SYNDROMEKIAA1279
1MYOPATHY, MYOFIBRILLAR, ZASP-RELATEDLDB3, ZASP, CYPHER, KIAA01613, CMD1C, LVNC3
1GEPDKCNMA1, SLO
1CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIESBMPR1B, ALK6
1EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMAKRT5, DDD
1CAROTID INTIMAL MEDIAL THICKNESS 1PPARG, PPARG1, PPARG2, CIMT1, GLM1
1RDTSMARCB1, SNF5, INI1, RDT, RTPS1
1CMT4HFGD4, FRABIN, CMT4H
1HNPCC2MLH1, COCA2, HNPCC2
1LGMD2KPOMT1, MDDGA1, MDDGB1, MDDGC1
1SCA27FGF14, FHF4, SCA27
1EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3SLC25A22, GC1
1PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3C10orf2, TWINKLE, PEO1, PEOA3, IOSCA, MTDPS7
1NEM4TPM2, TMSB, AMCD1, DA1, DA2B, NEM4
1NEM1TPM3, NEM1
1PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2SLC25A4, ANT1, T1, PEO3, PEO2
1LFS2CHEK2, RAD53, CHK2, CDS1, LFS2
1CMT2A2MFN2, KIAA0214, CMT2A2
1SLSN5IQCB1, NPHP5, KIAA0036
1KANZAKI DISEASENAGA
1SCHINDLER DISEASE, TYPE INAGA
1GS3MLPH
1BRUCK SYNDROME 2PLOD2
1MYOTILINOPATHYTTID, MYOT
1LDS1ATGFBR1, ALK5, AAT5, LDS2A, LDS1A
1CDG1FMPDU1, SL15, CDGIF
1ERYTHROKERATODERMA, RETICULARKRT10, EHK, BCIE, BIE
1ADSDPDE8B, PPNAD3, ADSD
1HYPERTHYROIDISM, NONAUTOIMMUNETSHR, CHNG1
1MALARIA, MILD, SUSCEPTIBILITY TONCR3, 1C7, NKP30, CD337
1PPCD3ZEB1, TCF8, NIL2A, PPCD3, FECD6
1PPCD2COL8A2, FECD1, PPCD2
1PCWHSOX10, WS4, WS4C, PCWH
1DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESISPTF1A
1COXPD1GFM1, EFG1, GFM, COXPD1
1NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESSCD151, PETA3, SFA1, MER2
1AMISH INFANTILE EPILEPSY SYNDROMESIAT9, ST3GALV
1FANCONI ANEMIA, COMPLEMENTATION GROUP JBRIP1, BACH1, FANCJ
1FANCIFANCI, KIAA1794
1PIERSON SYNDROMELAMB2, LAMS
1CMM3CDK4, CMM3
1ARVD9PKP2, ARVD9
1AXPC1FLVCR1, AXPC1, PCARP
1LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCYHADHA, MTPA
1DFNB36ESPN
1POF3FOXL2, BPES, BPES1, PFRK, POF3
1CCA3CRYGD, CRYG4, CCP
1BNARFREM1, C9orf154, BNAR
1MEACHAM SYNDROMEWT1, NPHS4
1LDS2ATGFBR1, ALK5, AAT5, LDS2A, LDS1A
1CD8 DEFICIENCY, FAMILIALCD8A
1DRUG METABOLISM, POOR, CYP2D6-RELATEDCYP2D6, CPD6, P450DB1
1FHL3UNC13D, MUNC13-4, HPLH3, HLH3, FHL3
1ARMD3FBLN5, ARMD3
1WAARDENBURG SYNDROME, TYPE IIDSNAI2, SLUG, WS2D
1OFC5MSX1, HOX7, HYD1, OFC5, STHAG1
1OFC6IRF6, VWS, LPS, PIT, PPS, OFC6
1MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1DLARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6
1CARNEY COMPLEX VARIANTMYH8
1CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATALCPT2
1CRCS1GALNT12, CRCS1
1ALPHA-B CRYSTALLINOPATHYCRYAB, CRYA2, CTPP2
1DTGA1MED13L, THRAP2, PROSIT240, TRAP240L, KIAA1025
1LGMD2JTTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC
1AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARYCOL2A1
1LEUKODYSTROPHY, HYPOMYELINATING, 2GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C
1SIDDTTSPYL1, TSPYL, SIDDT
1CDG1EDPM1, MPDS, CDGIE
1PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCYPDP1, PPM2C, PDP1, PDPC
1CDG2ECOG7, CDG2E
1CDG1LALG9, DIBD1, CDG1L
1IS3CHD7, IS3, KAL5
1CMH10MYL2, CMH10
1CMH8MYL3, CMH8
1INSULIN-LIKE GROWTH FACTOR I DEFICIENCYIGF1
1SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATEDMATN3, EDM5, HOA, OS2
1MCPH5ASPM, MCPH5
1BARRAQUER-SIMONS SYNDROMELMNB2, LMN2
1AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCYATIC, PURH, AICAR
1SCDO2MESP2, SCDO2
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2LHSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A
1HSAN5NGFB, HSAN5
1IPSSLC27A4, FATP4, IPS
1CILD3DNAH5, HL1, PCD, CILD3
1AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCYDDC
1DFNA28GRHL2, TFCP2L3, DFNA28
1HMN2BHSPB1, HSP27, CMT2F, HMN2B
1JBTS3AHI1
1ALS8VAPB, VAPC, ALS8
1HYPERTENSION, DIASTOLIC, RESISTANCE TOKCNMB1
1OLIGODONTIA-COLORECTAL CANCER SYNDROMEAXIN2
1MADBZMPSTE24, FACE1, STE24, MADB
1RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCYRPIA, RPI
1CGL1AGPAT2, LPAAB, BSCL, BSCL1
1ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2NPSR1, GPR154, GPRA, VRR1, PGR14, ASRT2
1ATFB1GJA5, CX40
1CMD1OABCC9, SUR2, CMD1O
1SSS1SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2
1DFNB35ESRRB, ESRL2, DFNB35
1LEGIONNAIRE DISEASE, SUSCEPTIBILITY TOTLR5, TIL3, SLEB1
1CDG1KALG1, HMAT1, HMT1, CDG1K
1CDL3ATGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD
1CDB1TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD
1COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVEMUTYH, MYH
1MRT3CC2D1A, MRT3
1PLATELET GLYCOPROTEIN IV DEFICIENCYCD36, CHDS7
1MCPH6CENPJ, CPAP, MCPH6, SCKL4
1MYOTONIA, POTASSIUM-AGGRAVATEDSCN4A, HYPP, NAC1A, HOKPP2
1BOS3SIX1, BOS3, DFNA23
1RP26CERKL, RP26
1SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPEACAN, AGC1, CSPG1, MSK16, SEDK
1MYOPATHY, MYOSIN STORAGEMYH7, CMH1, MPD1, CMD1S, SPMM, SPMD
1PARKES WEBER SYNDROMERASA1, GAP, CMAVM, PKWS
1CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATIONRASA1, GAP, CMAVM, PKWS
1CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE AGDAP1, CMT4A, CMT2K, CMTRIA
1WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANTFBN1, MFS1, WMS, SSKS
1CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE CYARS, CMTDIC, TYRRS, YTS, YRS
1ADCAD1MEF2A, ADCAD1
1PARATHYROID CARCINOMAHRPT2, C1orf28
1DFNB39HGF, DFNB39
1SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANTARHGEF10, KIAA0294
1HPS2AP3B1, ADTB3A, HPS2
1CMLBCR, CML, PHL, ALL
1NEUTROPHIL IMMUNODEFICIENCY SYNDROMERAC2
1CORD13RPGRIP1, LCA6, CORD13
1TROPICAL CALCIFIC PANCREATITISSPINK1, PSTI, PCTT, TATI
1SPD2FBLN1
1RP7PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2
1OVARIAN HYPERSTIMULATION SYNDROMEFSHR, ODG1
1IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5UNG, DGU, HIGM4
1CDG1HALG8, CDG1H
1LGMD2DSGCA, ADL, DAG2, LGMD2D, DMDA2
1HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVEARFGEF2, BIG2, PVNH2
1CDG1JDPAGT2, DGPT, CDG1J
1JBTS2TMEM216, JBTS2
1MCDR2PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4
1ANE1RANBP2, NUP358, ANE1
1AMYOTROPHIC LATERAL SCLEROSIS 6FUS, TLS, ALS6
1GAUCHER DISEASE, PERINATAL LETHALGBA
1ASD2GATA4
1MCOPS6BMP4, BMP2B1, BMP2B, MCOPS6, OFC11
1RP30FSCN2, RFSN, RP30
1CDG1IALG2, CDGII
1LAH1DSG4, LAH
1CAUDAL DUPLICATION ANOMALYAXIN1, AXIN
1MDC1ALAMA2, LAMM
1OS3ASPN, PLAP1, OS3
1NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTSGFI1, ZNF163, SCN2
1DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1AMYO1A, DFNA48
1AIS1FOXD3, AIS1
1NEUROTICISMSLC6A4, HTT, OCD1
1FSGS3CD2AP, CMS
1CMT2KGDAP1, CMT4A, CMT2K, CMTRIA
1HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROMESOX18, HLTS
1ALZHEIMER DISEASE 3PSEN1, AD3
1DFNB37MYO6, DFNA22, DFNB37
1CLSDSEC23A, CLSD
1LGMD1CCAV3, LGMD1C, LQT9
1CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE DMPZ, CMT1B, CMTDI3, CHM, DSS
1ACFDIHH, BDA1
1BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1HSD3B7, PFIC4
1BFIC3SCN2A1, SCN2A, BFIC3
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JMPZ, CMT1B, CMTDI3, CHM, DSS
1CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1FNEFL, CMT2E, CMT1F
1NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIRSHOC2, SIAA0862, SOC2, SUR8
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVEGDAP1, CMT4A, CMT2K, CMTRIA
1PARK11GIGYF2, KIAA0642, PARK11
1HESPDGFRA
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2ENEFL, CMT2E, CMT1F
1EIG9CACNB4, EJM6, EA5, EIG9
1ECA2GABRG2, GEFSP3, CAE2, ECA2
1CMT1DEGR2, KROX20
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2IMPZ, CMT1B, CMTDI3, CHM, DSS
1IRAK4 DEFICIENCYIRAK4, REN64, IPD1
1SKIN FRAGILITY-WOOLLY HAIR SYNDROMEDSP, KPPS2, PPKS2
1PPKS3KRT1, EPPK, NEPPK, EHK
1HMN7BDCTN1, HMN7B
1VAN BUCHEM DISEASE, TYPE 2LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4
1OPTA1LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4
1EJA1EFHC1, FLJ10466, EJM1, JAE, EJA1
1EIG11CLCN2, EGMA, ECA2, EGI11, EJM8
1ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITISCLDN1, SEMP1, ILVASC
1NIEMANN-PICK DISEASE, TYPE C2NPC2, HE1
1GS2RAB27A, RAM, GS2
1NIEMANN-PICK DISEASE, TYPE BSMPD1, NPD
1LCCS2ERBB3, LCCS2
1PONTOCEREBELLAR HYPOPLASIA TYPE 1VRK1, PCH1
1BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGECOL4A1
1ICOS DEFICIENCYICOS, AILIM, CVID1
1LEPROSY, SUSCEPTIBILITY TO, 2PRKN, PARK2, PDJ, LPRS2
1ATFB3KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2
1CDATGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD
1TOENAIL DYSTROPHY, ISOLATEDCOL7A1
1BULN1BDNF
1CMD1NTCAP, LGMD2G, CMD1N
1KNCR1, C3BR
1FTLDUGRN
1BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVESLC19A3
1CMD1MCSRP3, CRP3, CLP, CMD1M, CMH12
1NFRCDRLBP1
1BOTHNIA RETINAL DYSTROPHYRLBP1
1VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2VKORC1, VKOR, VKCFD2, FLJ00289
1THYROID CARCINOMA, HURTHLE CELLNDUFA13, GRIM19
1SANDOPOLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS
1GIL BLOOD GROUPAQP3
1DFNA44CCDC50, C3orf6, DFNA44
1ARVD8DSP, KPPS2, PPKS2
1BMIQ4UCP2, BMIQ4
1LIS1PAFAH1B1, LIS1
1MRT2CRBN, MRT2A
1GCCD2MRAP, FALP, C21orf61, GCCD2, FGD2
1DYSTONIA, JUVENILE-ONSETACTB
1BARTTER SYNDROME, TYPE 3CLCNKB
1MKS3TMEM67, MKS3, JBTS6
1FCDTTSC1, LAM
1CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1CX3CR1, GPR13, V28
1LATHOSTEROLOSISSC5DL, ERG3
1SMCDYM, FLJ90130, DMC, SMC
1DRRSSALL4, HSAL4
1CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCYCETP, HDLCQ10
1HGPPSROBO3, RBIG1, RIG1, HGPPS
1ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1PTGDR, AS1, ASRT1
1RESTING HEART RATEADRB1, ADRB1R, RHR
1CASPASE 8 DEFICIENCYCASP8, MCH5, ALPS2B
1SPG7PGN, SPG7, CMAR, CAR
1SCAN1TDP1
1HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATIONPANK2, NBIA1, PKAN, HARP
1IAHSPALS2, ALSJ, PLSJ, IAHSP
1TDH6DUOX2, THOX2, TDH6
1MCPHASLC25A19, DNC, MUP1, MCPHA
1LGMD2IFKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5
1ALLERGIC RHINITISIL13, ALRH, BHR1
1CDG1GALG12, CDG1G
1SCA17TBP, SCA17, HDL4
1CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIESCRYBB2, CRYB2
1CINCANLRP3, CIAS1, FCU, FCAS, NALP3, PYPAF1
1NASOPHARYNGEAL CARCINOMATP53, P53, LFS1
1DFNB30MYO3A, DFNB30
1ANAUXETIC DYSPLASIARMRP, RMRPR, CHH
1CDG2DB4GALT1, GGTB2, GT1, GTB, CDG2D
1DFNB31WHRN, CIP98, KIAA1526, DFNB31, USH2D
146,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHYDHH
1EDM5MATN3, EDM5, HOA, OS2
1PARK8LRRK2, PARK8
1DFNB22OTOA, DFNB22
1SCHEIE SYNDROMEIDUA, IDA
1HURLER-SCHEIE SYNDROMEIDUA, IDA
1HURLER SYNDROMEIDUA, IDA
1SLSN4NPHP4, SLSN4
1NPHP4NPHP4, SLSN4
1OCA1BTYR, SHEP3
1USH1GSANS, USH1G
1SCAR5ZNF592, KIAA0211, SCAR5, CAMOS
1ALZHEIMER DISEASE 4PSEN2, AD4, STM2
1PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATIONMCPH1
1PANCREATIC CANCER, SUSCEPTIBILITY TO, 1PALLD, KIAA0992, PNCA1
1POLYMICROGYRIA, BILATERAL FRONTOPARIETALGPR56, TM7XN1, BFPP
1IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3TNFRSF5, CD40
1GGMSLC5A1, SGLT1
1FUMARASE DEFICIENCYFH
1STROKE, SUSCEPTIBILITY TO, 1PDE4D, DPDE3, STRK1
1BLEPHAROSPASM, BENIGN ESSENTIALDRD5, DRD1B, DRD1L2
1CRIGLER-NAJJAR SYNDROME, TYPE IIUGT1A1, UGT1, GNT1, BILIQTL1
1GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIERSLC2A1, GLUT1, DYT18, PED, ,GLUT1DS
1DMATDYSF, LGMD2B
1HHF6GLUD1
1MELANOMA-PANCREATIC CANCER SYNDROMECDKN2A, MTS1, P16, MLM, CMM2
1DFNA36TMC1, DFNB7, DFNB11, DFNA36
1KRSATP13A2, PARK9, KRPPD
1SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURESPRNP, PRIP
1CMD1LSGCD, SGD, LGMD2F, CMD1L
1GLYCINE N-METHYLTRANSFERASE DEFICIENCYGNMT
1SCA15ITPR1, SCA15, SCA16
1MDC1CFKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FHSPB1, HSP27, CMT2F, HMN2B
1LIG4 SYNDROMELIG4
1VAMAS1NALP1, KIAA0926, DEFCAP, CARD7, SLEV1, VAMAS1
1OCA4SLC45A2, MATP, AIM1, SHEP5
1CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE BDNM2, CMTDIB, CMTDI1, CMT2M
1HDL2JPH3, JP3, HDL2
1EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCYTNXB, TNX, TNXB1, TNXBS, TNXB2
1MODY6NEUROD1, NIDDM
1MODY4IPF1, MODY4
1EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPEMAPK10, PRKM10, JNK3
1INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OFIL2RA, IL2R, IDDM10
1PLSJALS2, ALSJ, PLSJ, IAHSP
1DFNA22MYO6, DFNA22, DFNB37
1PARK7DJ1, PARK7
1ASPSASPSCR1, RCC17, ASPL, ASPS
1CHROMOSOME 22q13.3 DELETION SYNDROMESHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3
1AVSD2CRELD1, AVSD2
1BASAL GANGLIA DISEASE, ADULT-ONSETFTL, NBIA3
1HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IICTRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1
1MPD2MATR3, MPD2
1HFE4SLC40A1, SLC11A3, FPN1, IREG1, HFE4
1CDG2BGCS1, CDG2B
1TRANSALDOLASE DEFICIENCYTALDO1
1SCAR1SETX, SCAR1, AOA2, ALS4
1NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TOZNF365, UAN
13-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2 DEFICIENCYHMGCS2
1PARK6PINK1, PARK6
1DMGDHDDMGDH, DMGDHD
1LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARYFH
1NMGNE, GLCNE, IBM2, DMRV, NM
1CITRULLINEMIA, TYPE II, NEONATAL-ONSETSLC25A13, CTLN2
1ATOD2FLG, ATOD2
1FANCD1BRCA2, FANCD1, BROVCA2, GLM3, PNCA2
1CEREBRAL AMYLOID ANGIOPATHY, APP-RELATEDAPP, AAA, CVAP, AD1
1CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMADSP, KPPS2, PPKS2
1LORDC1QTNF5, CTRP5, LORD
1IBM3MYH2
1DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1DSPP, DPP, DGI1, DFNA39, DTDP2
1CMT2B2MED25, PTOV2, ARC92, CMT2B2
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1DFNA25SLC17A8, VGLUT3, DFNA25
1ABDOMINAL OBESITY-METABOLIC SYNDROMEMTP
1PARK4SNCA, NACP, PARK1, PARK4
1BRIC2ABCB11, BSEP, SPGP, PFIC2, BRIC2
1USH2CGPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C, USH2B
1RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIAHOXA11, HOX1I
1SEGAWA SYNDROME, AUTOSOMAL RECESSIVETH, TYH
1CTPP3CHMP4B, SNF7, CTPP3
1HETEROTAXY, VISCERAL, 2, AUTOSOMALCFC1, CRYPTIC, HTX2
1EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3CHRNB2, EFNL3
1PGL3SDHC, PGL3
1CMD1JEYA4, DFNA10, CMD1J
1SCA14PRKCG, PKCC, PKCG, SCA14
1NEM5TNNT1, ANM
1DFNB10TMPRSS3, ECHOS1, DFNB8, DFNB10
1MACROCEPHALY/AUTISM SYNDROMEPTEN, MMAC1, GLM2
1SHFM4TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8
1SPG13HSPD1, SPG13, HSP60, HLD4
1SCA13KCNC3, SCA13
1IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2AICDA, AID, HIGM2
1SBSMYH9, MHA, FTNS, DFNA17
1SLEB2PDCD1, SLEB2
1DFNA23SIX1, BOS3, DFNA23
1HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCYNR3C2, MLR, MCR
1BSSCYLD1, CDMT, EAC, MFT1
1C-LIKE SYNDROMECD96, TACTILE
1WFS2CISD2, WFS2, ZCD2, ERIS
1SCZD9DISC1, SCZD9
1NAICCIRH1A, NAIC, TEX292, KIAA1988
1OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIACOL2A1
1STL2COL11A1, STL2
1MCPH3CDK5RAP2, KIAA1633, MCPH3
1LI3CYP4F22, LI3
1CPVT1RYR2, VTSIP, ARVD2, ARVC2
1CMD1IDES, CMD1I
1CRS2MSX2, CRS2, HOX8
1DFNA20ACTG1, DFNA20, DFNA26
1ORTHOSTATIC INTOLERANCESLC6A2, NAT1, NET1
1STHAG3PAX9, STHAG3
1CMT4B2SBF2, MTMR13, CMT4B2
1PFHB1BTRPM4, PFHB1B
1LCA5LCA5, C6orf152
1ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROMEPKP1
1CAMTMPL, TPOR, MPLV
1SCA11TTBK2, SCA11
1PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNEPSTPIP1, PSTPIP, CD2BP1, PAPAS
1LCA4AIPL1, LCA4
1ATLDMRE11A, MRE11, ATLD
1NPHP3NPHP3, NPH3, RHPD, MKS7
1LAH2LIPH, LAH2, ARWH2
1CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCYSCO2
1SIALURIA, FINNISH TYPESLC17A5, SIASD, SLD
1SPG11SPG11, KIAA1840, FLJ21439
1DUANE RETRACTION SYNDROME 2CHN1, CHN, ARHGAP2, RHOGAP2, DURS2
1FEB4GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C, USH2B
1ADVANCED SLEEP-PHASE SYNDROME, FAMILIALPER2, FASPS, KIAA0347
1SCA12PPP2R2B
1DSMA1IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6
1MASS SYNDROMEFBN1, MFS1, WMS, SSKS
1EEC3TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8
1ACERULOPLASMINEMIACP
1LGMD2ESGCB, LGMD2E
1RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATIONSLC4A4, NBC1, KNBC, SLC4A5
1HFE3TFR2, HFE3
1LCA3SPATA7, HSD3, LCA3
1FENIBSERPINI1, PI12
1SPG10KIF5A, NKHC, SPG10
1PNC16orf57, PN
1LVNC1DTNA, D18S892E, DRP3, LVNC1
1CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHYCTDP1, FCP1, CCFDN
1CMD1GTTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC
1EPIDERMOLYSIS BULLOSA PRURIGINOSACOL7A1
1VOHWINKEL SYNDROME, VARIANT FORMLOR
1CORD3ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2
1MLCMLC1, LVM, VL
1FSGS2TRPC6, TRP6, FSGS2
1CERVICAL CANCERFGFR3, ACH
1MVCD1VEGF, MVCD1
1ALPS2ACASP10, MCH4, ALPS2
1SICKLE CELL ANEMIAHBB
1BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPEHBB
1MCKD2UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2
1LQT3SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2
1VF1SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2
1ARHLDLRAP1, ARH, FHCB2, FHCB1
1STGD4PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4
1HCHOLA3PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1
1DFNB16STRC, DFNB16
1HMERFTTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC
1PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITYEPHB2, EPHT3, DRT, ERK, PCBC, CAPB
1CORD7RIMS1, RIM1, RIM, KIAA0340, CORD7
1DFNB21TECTA, DFNA8, DFNA12, DFNB21
1DFNA17MYH9, MHA, FTNS, DFNA17
1CDG2FSLC35A1, CST, CDG2F
1SPG8KIAA0196, SPG8
1FHL2PRF1, HPLH2, FLH2
1FHL4STX11, FHL4, HPLH4, HLH4
1LMSTP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8
1DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL EDEMADHS
1SCA10ATXN10, SCA10
1CPSQ1GAD1, SCP
1CTLN2SLC25A13, CTLN2
1HYPERTHYROIDISM, FAMILIAL GESTATIONALTSHR, CHNG1
1GRACILE SYNDROMEBCS1L, FLNMS, GRACILE, BJS, PTD
1CCM3PDCD10, TFAR15, CCM3
1CCM2C7orf22, CCM2, MGC4067
1FSGS1ACTN4, FSGS1, FSGS
1HDL1PRNP, PRIP
1CDG1CALG6
1MNGIETYMP, ECGF1, MNGIE, PDECGF, MEDPS1, MTDPS1
1EADCOLQ, EAD
1SCZD6NRG1, HGL, HRGA, ARIA
1AMDMNPR2, ANPRB, AMDM
1MUENKE SYNDROMEFGFR3, ACH
1RP25EYS, RP25
1RSMD1SEPN1, SELN, RSMD1
1RTADRATP6V0A4, ATP6N1B, VPP2, RTA1C, RTADR
1DM2ZNF9, CNBP1, DM2, PROMM
1DYT6THAP1, DYT6
1MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCEMYCN, NMYC, ODED, MODED
1CDG1BMPI, PMI1
1ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESSGJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID
1HYPERLIPIDEMIA, COMBINED, 1USF1, HYPLIP1
1HHF3GCK, HHF3
1RIEG3FOXC1, FKHL7, FREAC3, IRID1, RIEG3
1FHM2ATP1A2, FHM2, MHP2
1ENCEPHALOPATHY, ETHYLMALONICETHE1, HSCO, D83198
1DFNA15POU4F3, BRN3C
1SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATIONDCLRE1C, ARTEMIS, SCIDA
1ALS4SETX, SCAR1, AOA2, ALS4
1DESMOSTEROLOSISDHCR24, KIAA0018
1JHHJV, HFE2A
1PFIC3ABCB4, PGY3, MDR3
1SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPEMMP13, CLG3, MANDP1
1COD3GUCA1A, GCAP, COD3, CORD14
1DFNB18USH1C, DFNB18
1NPHP2INVS, INV, NPHP2, NPH2
1USH1FPCDH15, DFNB23, USH1F
1CDB2TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD
1SPCH1FOXP2, SPCH1, TNRC10, CAGH44
1TMAUFMO3, TMAU
1CFEOM2PHOX2A, ARIX, CFEOM2
1PURE&aposKRT85, KRTHB5, HB5
1BMIQ9MC3R, BMIQ9
1HOMG1TRPM6, CHAK2
1LGMD2GTCAP, LGMD2G, CMD1N
1KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMAPOMP, UMP1
1IDDM10IL2RA, IL2R, IDDM10
1GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2FN1, FN, LETS, FNZ, GFND2
1MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1
1CZP3GJA3, CX46, CZP3, CAE3
1BMND1LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4
1DFNA13COL11A2, STL3, DFNA13, DFNB53
1ALPSTNFRSF6, APT1, FAS, CD95, ALPS1A
1PFIC2ABCB11, BSEP, SPGP, PFIC2, BRIC2
1HHF2KCNJ11, BIR, PHHI, HHF2, TNDM3
1BILIRUBIN, ELEVATED CONCENTRATIONS OF, IN SERUMUGT1A1, UGT1, GNT1, BILIQTL1
1PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCYPHGDH
1EVR4LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4
1SHEP3TYR, SHEP3
1CLN6CLN6
1CORD6GUCY2D, GUC2D, LCA1, CORD6, RCD2
1ADDUCTED THUMB-CLUBFOOT SYNDROMECHST14, D4ST1, ATCS
1SLEB1TLR5, TIL3, SLEB1
1RP19ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2
1T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHYFOXN1, WHN
1NOVELTY SEEKING PERSONALITY TRAITDRD4
1BARTTER SYNDROME, ANTENATAL, TYPE 1SLC12A1, NKCC2
1PGL2SDHAF2, SDH5, PGL2
1IRID1FOXC1, FKHL7, FREAC3, IRID1, RIEG3
1TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1CYLD1, CDMT, EAC, MFT1
1CMT4CSH3TC2, KIAA1985, MNMN
1WT5POU6F2, WTSL, WT5
1STUVE-WIEDEMANN SYNDROMELIFR, STWS, SWS, SJS2
1HJMDCDH3, CDHP, PCAD, HJMD
1BLOOD GROUP--FROESESLC4A1, AE1, EPB3
1SWSLC4A1, AE1, EPB3
1CCA2CRYBB2, CRYB2
1DFNA3AGJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID
1DFNA12TECTA, DFNA8, DFNA12, DFNB21
1ABDSHOXA1, HOX1F, BSAS
1HPC1RNASEL, RNS4, PRCA1, HPC1
1AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL RECESSIVEIGHM, MU, AGM1
1CMD1DTNNT2, CMH2, CMD1D, RCM3, LVNC6
1CMD1CLDB3, ZASP, CYPHER, KIAA01613, CMD1C, LVNC3
1HYALURONIDASE DEFICIENCYHYAL1
1CMT2DGARS, SMAD1, CMT2D, HMN5
1CMT4DNDRG1, HMSNL, CMT4D
1NEVO SYNDROMEPLOD, PLOD1
1MYOPATHY, MYOFIBRILLAR, DESMIN-RELATEDDES, CMD1I
1RP18HPRP3, RP18
1PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCYRUNX1, CBFA2, AML1
1IDDM12CTLA4, IDDM12, CELIAC3, GRD4
1CMT4B1MTMR2, CMT4B1
1CRISPONI SYNDROMECRLF1, CISS
1DFNA9COCH, DFNA9
1NFNSNF1, VRNF, WSS, NFNS
1DFNA11MYO7A, USH1B, DFNB2, DFNA11
1DFNA10EYA4, DFNA10, CMD1J
1LGMD2FSGCD, SGD, LGMD2F, CMD1L
1CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANTCRYGD, CRYG4, CCP
1NIDDM1CAPN10, NIDDM1
1LI2ABCA12, ICR2B, LI2
1ATCAYATCAY, CLAC, KIAA1872
1NAXOS DISEASEJUP, DP3, PDGB, ARVD12
1PPBDICER1, HERNA, KIAA0928
1MCOPS9STRA6, MCOPS9
1CMD1ESCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2
1HEREDITARY MOTOR AND SENSORY NEUROPATHY VIMFN2, KIAA0214, CMT2A2
1BRUGADA SYNDROME 1SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2
1CDG1DALG3, NOT56L, CDGS4
1PSNP1MAPT, MTBT1, DDPAC, MSTD
1CMT1CLITAF, CMT1C
1DFNB8TMPRSS3, ECHOS1, DFNB8, DFNB10
1DFNB9OTOF, DFNB9, NSRD9, AUNB1
1TSCACNA1C, CACNL1A1, CCHL1A1, TS
1BRODY MYOPATHYATP2A1, SERCA1
1EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVEKRT14
1ARVD2RYR2, VTSIP, ARVD2, ARVC2
1SRN1PDCN, NPHS2, SRN1
1DFNA5DFNA5
1CORD5PITPNM3, NIR1, CORD5
1DFNB7TMC1, DFNB7, DFNB11, DFNA36
1ACG1BSLC26A2, DTD, DTDST, D5S1708, EDM4
1DFNB6TMIE, DFNB6
1EDM3COL9A3, EDM3, IDD
1DFNA6WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38
1PROPROTEIN CONVERTASE 1/3 DEFICIENCYPCSK1, NEC1, PC1, PC3, BMIQ12
1CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATEDANK2, LQT4
1HYPERFERRITINEMIA-CATARACT SYNDROMEFTL, NBIA3
1CMT2BRAB7, CMT2B, PSN
1CCZSCRYBA1, CRYB1
1CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROMEPRKAG2, WPWS, CMH6
1RP17CA4, RP17
1SCZD4PRODH, PRODH2, SCZD4
1GBD1ABCB4, PGY3, MDR3
1FTD3CHMP2B, DMT1, VPS2B
1IBM2GNE, GLCNE, IBM2, DMRV, NM
1D-2-@HYDROXYGLUTARIC ACIDURIAD2HGDH, D2HGD
1EIGME2, ODS1
1DFNA4MYH14, KIAA2034, DFNA4
1CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILECPT2
1CFEOM3TUBB3, TUBB4, CFEOM3A
1PITUITARY ADENOMA, PROLACTIN-SECRETINGAIP, XAP2, ARA9
1UVSERCC6, CKN2, COFS1, CSB, ARMD5
1OFC11BMP4, BMP2B1, BMP2B, MCOPS6, OFC11
1EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1CHRNA4, ENFL1
1ADLTELGI1, EPT, ETL1
1ABCD SYNDROMEEDNRB, HSCR2, ABCDS, WS4A
1MODY3HNF1A, TCF1, MODY3, IDDM20
1MLASAPUS1, MLASA
1ORW2ACVRL1, ACVRLK1, ALK1, HHT2
1SPG6NIPA1, SPG6
1TIBIAL MUSCULAR DYSTROPHY, TARDIVETTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC
1IDDM5SUMO4, IDDM5
1DFNB3MYO15A, DFNB3
1SCA5SPTBN2, SCA5
1MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESSMYH9, MHA, FTNS, DFNA17
1EDM2COL9A2, EDM2
1DYX2KIAA0319, DYX2, DYLX2, DLX2
1VMCMTEK, TIE2, VMCM
1HSCR2EDNRB, HSCR2, ABCDS, WS4A
1SACRAL DEFECT WITH ANTERIOR MENINGOCELEVANGL1, STBM2
1CLN8CLN8, EPMR
1RP11PRPF31, PRP31, RP11
1RP14TULP1, RP14
1RCDP3AGPS, ADHAPS
1WARBMRAB3GAP1, WARBM1, P130
1PARK2PRKN, PARK2, PDJ, LPRS2
1STGD3ELOVL4, ADMD, STGD2, STGD3
1RP12CRB1, RP12, LCA8
1DFNA2AKCNQ4, DFNA2A
125-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVECYP2R1
1FFIPRNP, PRIP
1DFNB2MYO7A, USH1B, DFNB2, DFNA11
1RP13PRPF8, PRPC8, RP13
1EIKEN SKELETAL DYSPLASIAPTHR1, PTHR, PFE
1DEAFNESS, AMINOGLYCOSIDE-INDUCEDTRMU, MTO2, TRNT1
1SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKEDUSP9Y, DFFRY
146,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVESRY, TDF, TDY
146,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATEDSRY, TDF, TDY
1SERTOLI CELL-ONLY SYNDROME, Y-LINKEDZNF148, ZFP148
1CVD1FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1
1DYT3TAF1, TAF2A, CCG1, BA2R, DYT3
1THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESISGATA1, GF1, ERYF1, NFE1, XLTT
1THC1WAS, IMD2, THC1
1STHAGX1ED1, EDA, HED, STHAGX1
1SEDTTRAPPC2, SEDL, SEDT
1SMAX1AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1
1SPG2PLP1, PMD, HLD1
1SGBS1GPC3, SDYS, SGBS1
1CIDXIL2RG, SCIDX1, SCIDX, IMD4
1RTTMECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16
1RP2RP2
1ANDROGEN INSENSITIVITY, PARTIALAR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1
1PYRUVATE DECARBOXYLASE DEFICIENCYPDHA1, PHE1A
1PMDPLP1, PMD, HLD1
1PROPERDIN DEFICIENCY, X-LINKEDPFC, PFD
1PHPXSOX3, MRGH
1TARPSRBM10, DXS8237E, KIAA0122, TARPS
1OPD1FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1
1ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TOOTC
1OFD1OFD1, CXorf5, SGBS2, JBTS10
1OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIATIMM8A, DFN1, DDP, MTS, DDP1
1CMTX5PRPS1, CMTX5, DFNX1, DFN2
1NYS1FRMD7
1NDNDP, ND
1CSNB1ACSNB1, NYX
1XRNCLCN5, CLCK2, NPHL2, DENTS, NPHL1
1NSXPOLA
1MTM1MTM1, MTMX
1EDMD1EMD, EDMD, STA
1DMDDMD, BMD, CMD3B
1MCOPS7HCCS, MCOPS7
1MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPESMS, SRS, MRSR
1MRXHF1ATRX, XH2, XNP, SHS, SFM1, MRXHF1
1MRX9FTSJ1, JM23, SPB1, MRX44, MRX9
1MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXEAFF2, FMR2, FRAXE, MRX2
1MRX3GDI1, RABGD1A, MRX41, MRX48
1MRX1IQSEC2, KIAA0522, MRX1
1LUJAN-FRYNS SYNDROMEMED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1
1PRTSARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32
1RENS1PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8
1MENKES DISEASEATP7A, MNK, MK, OHS, SMAX3
1MNSFLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1
1OCRLOCRL, LOCR, OCRL1, NPHL2
1PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSISCLCN5, CLCK2, NPHL2, DENTS, NPHL1
1LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHYCOL4A6, DELXq22.3, CXDELq22.3
1LEIGH SYNDROME, X-LINKEDPDHA1, PHE1A
1KFSDXSAT1, SSAT, KFSD, KFSDX
1EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32
1IPIKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1
1XLP1SH2D1A, LYP, IMD5, XLP, XLPD
1HIGM1TNFSF5, CD40LG, HIGM1, IGM
1ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROMEMBTPS2, S2P, IFAP
1XLISTS, ARSC1, ARSC, SSDD, XLI
1CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTSNSDHL
1HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANTPHEX, HYP, HPDR1
1IGHD3BTK, AGMX1, IMD1, XLA, AT
1HYPERGLYCEROLEMIAGK
1HSASL1CAM, CAML1, HSAS1
1HTX1ZIC3, HTX1, HTX
1HEMBF9, HEMB
1CGDCYBB, CGD
1GLYCOGEN STORAGE DISEASE IXa1PHKA2, PHK, XLG, PHK, PYKL, GSD9A
1FMDFLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1
1FDHPORCN, PORC, DHOF, FODH
1OKSMED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1
1FACIOGENITAL DYSPLASIAFGD1, FGDY, AAS, MRXS16
1EVR2NDP, ND
1XHEDED1, EDA, HED, STHAGX1
1DKCDKC1, DKC
1DIABETES INSIPIDUS, NEPHROGENIC, X-LINKEDAVPR2, DIR, DI1, ADHR
1IPEXFOXP3, IPEX, AIID, XPID, PIDX
1MTSTIMM8A, DFN1, DDP, MTS, DDP1
1DFNX1PRPS1, CMTX5, DFNX1, DFN2
1DFNX2POU3F4, DFN3, DFNX2
1CUTIS LAXA, X-LINKEDATP7A, MNK, MK, OHS, SMAX3
1OPD2FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1
1CFNSEFNB1, EPLG2, CFNS, CFND
1CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKEDL1CAM, CAML1, HSAS1
1CORDX1RPGR, RP3, CRD, RP15, COD1, CORDX1
1CBDOPN1MW, GCP, CBD, CBBM
1CLSRPS6KA3, RSK2, MRX19
1CPXTBX22, CPX
1MASA SYNDROMEL1CAM, CAML1, HSAS1
1CHMCHM, TCD
1CDPX2EBP, CDPX2, CPXD, CPX
1CDPX1ARSE, CDPX1, CDPXR
1CMTX1GJB1, CX32, CMTX1
1NHSNHS, CXN
1CCTNHS, CXN
1BTHSTAZ, EFE2, BTHS, CMD3A, LVNCX
1CMD3BDMD, BMD, CMD3B
1BFLSPHF6, BFLS
1ARTSPRPS1, CMTX5, DFNX1, DFN2
1SMAX2UBE1, GXP1, A1ST, SMAX2, AMCX1
1FABRY DISEASEGLA
1ASATABCB7, ABC7, ASAT
1AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1AMELX, AMG, AIH1, AMGX
1ATSCOL4A5, ATS, ASLN
1ATRXATRX, XH2, XNP, SHS, SFM1, MRXHF1
1WASWAS, IMD2, THC1
1PIGA
1AIFM1, PDCD8, AIF, COXPD6
1GPR143, OA1, NYS6
1THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECTF9, HEMB
1JBTS10OFD1, CXorf5, SGBS2, JBTS10
1MENTAL RETARDATION, X-LINKED, SYP-RELATEDSYP, MRXSYP
1MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATEDZDHHC9, DHHC9, MRXSZ
1SMDP4CSF2RA
1HYSP2MAMLD1, CXorf6, F18, HYSP2
1XLABTK, AGMX1, IMD1, XLA, AT
1XLDPTALAS2, ANH1, ASB, XLDPP, XLSA, ANH1
1XLSAALAS2, ANH1, ASB, XLDPP, XLSA, ANH1
1MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIACASK, MICPCH, FGS4, CMG
1MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSETFHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B
1MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVEREFHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B
1MRX95MAGT1, IAP
1STARFAM58A, STAR
1MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPEHUWE1, UREB1, KIAA0312, LASU1
1MRX17HSD17B10, HADH2, ERAB, MRXS10, MRX17, MRX31, DUPXp11.22
1MRX94GRIA3, GLUR3, MRX94
1XMPMAFHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B
1SPMFHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B
1MRXS14UPF3B, RENT3B, MRXS14
1ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONSMECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16
1EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2CDKL5, STK9, ISSX
1PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITYPRPS1, CMTX5, DFNX1, DFN2
1MRX93BRWD3, MRX93
1PHOSPHOGLYCERATE KINASE 1 DEFICIENCYPGK1, PGKA
1RESDXSRPX2, SRPUL, RESDX
1IPD2IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1
1MENTAL RETARDATION, X-LINKED, WITH BRACHYDACTYLY AND MACROGLOSSIACUL4B, MRXSC, MRXHF2, SFM2
1AMCBX1IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1
1XLP2BIRC4, API3, XIAP, XLP2
1HYSP1AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1
1MRX59AP1S2, MRX59
1FRAGILE X MENTAL RETARDATION SYNDROMEFMR1, FRAXA
1FXTASFMR1, FRAXA
1TN SYNDROMEC1GALT1C1, COSMC, C1GALT2
1BRUNNER SYNDROMEMAOA
1HYPEREKPLEXIA AND EPILEPSYARHGEF9, PEM2, KIAA0424
1POF2BFLJ22792, POF1B, POF2B
1AIEDCACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2
1CDLS2DXS423E, SMC1, CDLS2
1IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIAIKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1
1MRX91ZDHHC15, MRX91
1GLYCOGEN STORAGE DISEASE, TYPE IXdPHKA1
1MRX30PAK3, MRX30, MRX47
1DENT DISEASE 2OCRL, LOCR, OCRL1, NPHL2
1HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVECLCN5, CLCK2, NPHL2, DENTS, NPHL1
1NSIADAVPR2, DIR, DI1, ADHR
1HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANTFLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1
1MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATEDKDM5C, SMCX, MRXSJ, DXS1272E, XE169, JARID1C
1AHDSSLC16A2, DXS128, XPCT
1FANCBFAAP95, FAAP90, FLJ34064, FANCB
1POF2ADIAPH2, DIA, POF2
1ODG2BMP15, GDF9B, ODG2, POF4
1OA1GPR143, OA1, NYS6
1MRX45ZNF81, MRX45
1ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2NLGN4, KIAA1260, AUTSX2, ASPGX2
1AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16
1AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2NLGN4, KIAA1260, AUTSX2, ASPGX2
1ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1NLGN3, ASPGX1, AUTSX1
1EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERSSYN1
1SMAX3ATP7A, MNK, MK, OHS, SMAX3
1MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCEOPHN1, MRX60
1CORDX3CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2
1CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIAIGBP1
1RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESSRPGR, RP3, CRD, RP15, COD1, CORDX1
1ATMDSATRX, XH2, XNP, SHS, SFM1, MRXHF1
117-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCYHSD17B10, HADH2, ERAB, MRXS10, MRX17, MRX31, DUPXp11.22
1MRX46ARHGEF6, MRX46, COOL2
1STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROMESHROOM4, KIAA1202, SDSX
1AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1NLGN3, ASPGX1, AUTSX1
1XMREATP6AP2, ATP6M8-9, XMRE, MRXE
1FGS4CASK, MICPCH, FGS4, CMG
1MRXARXARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32
1SCIDX1IL2RG, SCIDX1, SCIDX, IMD4
1MRX63ACSL4, FACL4, ACS4, MRX63
1OSCSFAM123B, WTX, FLJ39827, OSCS
1DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIAGATA1, GF1, ERYF1, NFE1, XLTT
1MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMORCUL4B, MRXSC, MRXHF2, SFM2
1CREATINE DEFICIENCY SYNDROME, X-LINKEDSLC6A8, CRTR
1GOUT, HPRT-RELATEDHPRT1, HPRT
1LNSHPRT1, HPRT
1FGS2FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1
1BMIQ11SLC6A14, OBX, BMIQ11
1OLEDAIDIKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1
1XLNWAS, IMD2, THC1
1ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCYIKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1
1MRX72RAB39B, MRX72
1SIDERIUS X-LINKED MENTAL RETARDATION SYNDROMEPHF8, ZNF422, KIAA1111, MRXSSD
1MRXSLMECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16
1DANON DISEASELAMP2, LAMPB
1TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTSFLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1
1MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPESLC9A6, NHE6
1HHSDKC1, DKC
1MRXS10HSD17B10, HADH2, ERAB, MRXS10, MRX17, MRX31, DUPXp11.22
1LISX2ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32
1MRX58TM4SF2, MXS1, A15, MRX58
1SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2OFD1, CXorf5, SGBS2, JBTS10
1AHCDAX1, AHC, AHX, NROB1
1LVNCXTAZ, EFE2, BTHS, CMD3A, LVNCX
1MCOPS2BCOR, KIAA1575, MCOPS2, MAA2, ANOP2
1MRX21IL1RAPL1, IL1R8, MRX21, MRX34
1MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISMSOX3, MRGH
1ALDABCD1, ALD, AMN
1EFMRPCDH19, KIAA1313, EFMR
1SXI1XIC, XCE, XIST, SXI1
1CSNB2ACACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2
1CMD3ATAZ, EFE2, BTHS, CMD3A, LVNCX
1AISAR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1
1LISX1DCX, DBCN, LISX
1MRXS13MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16
1HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANTFLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1
1INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKEDFLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1
1RP3RPGR, RP3, CRD, RP15, COD1, CORDX1
1DSSDAX1, AHC, AHX, NROB1
1DENT DISEASE 1CLCN5, CLCK2, NPHL2, DENTS, NPHL1
1CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIAARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32
1OPITZ GBBB SYNDROME, X-LINKEDMID1, OGS1, BBBG1, FXY, OSX
1DE SANCTIS-CACCHIONE SYNDROMEERCC6, CKN2, COFS1, CSB, ARMD5
1XPGERCC5, XPG, COFS3
1XPFERCC4, XPF
1XPVPOLH, XPV
1XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP EDDB2
1XPDERCC2, EM9, XPD, COFS2
1XPCXPC, XPCC
1XPAXPA, XPAC
1XANTHINURIA, TYPE IXDH
1WSSATP6V0A2, WSS, ARCL
1WOOLLY HAIR, AUTOSOMAL RECESSIVEP2RY5, P2Y5, LAH3, ARWH1
1WOLMAN DISEASELIPA, CESD
1WILSON DISEASEATP7B, WND
1WRNRECQL2, RECQ3, WRN
1TAT
1WZSCOL11A2, STL3, DFNA13, DFNB53
1WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVEADAMTS10, WMS
1WEAVER SYNDROMENSD1, ARA267, STO
1WAARDENBURG-SHAH SYNDROMEEDNRB, HSCR2, ABCDS, WS4A
1VON WILLEBRAND DISEASE, RECESSIVE FORMVWF, F8VWF
1PCH2ATSEN54, SEN54, PCH2A, PCH4
1VEDTTPA, TTP1, AVED
1VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1GGCX
1VITAMIN D-DEPENDENT RICKETS, TYPE IIVDR
1METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPEC2orf25, MMADHC
1METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPEMMACHC
1METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPELMBRD1, LMBD1, NESI
1SCDO1DLL3, SCDO1
1CBAVDCFTR, ABCC7, CF, MRP7
1VACTERL ASSOCIATION WITH HYDROCEPHALUSPTEN, MMAC1, GLM2
1USH1CUSH1C, DFNB18
1USH3CLRN1, USH3A, USH3
1USH2AUSH2A, RP39
1USHER SYNDROME, TYPE IMYO7A, USH1B, DFNB2, DFNA11
1UROCANASE DEFICIENCYUROC1
1ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCYWNT7A
1TYROSINEMIA, TYPE IIIHPD
1TWINNING, DIZYGOTICFSHR, ODG1
1SPG20SPG20
1CDSABHD5, CGI58, IECN2, NCIE2
1TRANSCOBALAMIN II DEFICIENCYTCN2, TC2
1CHNG1TSHR, CHNG1
1CHNG4TSHB, CHNG4
1TDH5DUOXA2, TDH5
1TDH4IYD, DEHAL1, TDH4
1TDH3TG, AITD3, TDH3
1PDSSLC26A4, PDS, DFNB4, EVA, TDH2B
1TDH2ATPO, TPX, TDH2A
1TDH1SLC5A5, NIS, TDH1
1GRTHTHRB, ERBA2, THR1, PRTH
1DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCYDPYD, DPD
1TTPADAMTS13, VWFCP, TTP
1THROMBASTHENIA OF GLANZMANN AND NAEGELIITGA2B, GP2B, CD41B
13M1CUL7
1TETRAAMELIA, AUTOSOMAL RECESSIVEWNT3, INT4
1TSDHEXA, TSD
1GM2-GANGLIOSIDOSIS, AB VARIANTGM2A
1SCTFLNB, SCT, AOI, LRS1
1CISS1CRLF1, CISS
1SULFOCYSTEINURIASUOX
1MSDSUMF1, FGE
1SUDDEN INFANT DEATH SYNDROMESCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2
1SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCYALDH5A1, SSADH
1SNDINUP62, SNDI, IBSN
1CANAVAN DISEASEASPA
1SPONDYLOPERIPHERAL DYSPLASIACOL2A1
1SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPEDDR2, NTRKR3, TKT
1IOSCAC10orf2, TWINKLE, PEO1, PEOA3, IOSCA, MTDPS7
1SMA4SMN1, SMA1, SMA2, SMA3, SMA4
1SPH3SPTA1, EL2, SPH3, HS3, HPP
1AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSISSYCP3, SCP3, COR1
1SPG5ACYP7B1, CBAS3, SPG5A
1SPG15ZFYVE26, KIAA0321, SPG15
1SPG17BSCL2, SPG17, HMN5
1SACSSACS, ARSACS
1INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TOIGF1R
1DIAR3SPINT2, HAI2, DIAR3
1SLOSDHCR7, SLOS
1SLSALDH3A2, ALDH10, SLS, FALDH
1HETEROTAXY, VISCERAL, 5, AUTOSOMALNODAL
1SIALURIAGNE, GLCNE, IBM2, DMRV, NM
1INFANTILE SIALIC ACID STORAGE DISORDERSLC17A5, SIASD, SLD
1CGL2BSCL2, SPG17, HMN5
1SEA-BLUE HISTIOCYTE DISEASEAPOE, AD2, LPG, LDLCQ5
1SOSTSOST, VBCH
1SCHNECKENBECKEN DYSPLASIASLC35D1, UGTREL7, KIAA0260
1SCHIZENCEPHALYEMX2
1SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROMESETBP1, KIAA0437, SEB
1SC PHOCOMELIA SYNDROMEESCO2
1SARCOSINEMIASARDH, SARD, SAR
1SANDHOFF DISEASEHEXB
1SACCHAROPINURIAAASS
1RTSRECQL4, RTS, RECQ4
1ROBINOW SYNDROME, AUTOSOMAL RECESSIVEROR2, BDB1, BDB, NTRKR2
1RBSESCO2
1RMS1SLC22A1L, BWSCR1A, IMPT1
1MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVELPIN1
1RHNRHAG, RH50A
1REVESZ SYNDROMETINF2, TIN2
1ESCSNR2E3, PNR, ESCS, RP37
1KNOBLOCH SYNDROME, TYPE ICOL18A1, KNO1
1RETICULAR DYSGENESISAK2
1RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESSATP6B1, VPP3
1MOVED TO 208540NPHP3, NPH3, RHPD, MKS7
1SLSN1NPHP1, NPH1, SLSN1, JBTS4
1SHEP2MC1R, SHEP2, CMM5
1RAPADILINO SYNDROMERECQL4, RTS, RECQ4
1CDG2CSLC35C1, FUCT1, CDG2C
1PYRUVATE KINASE DEFICIENCY OF RED CELLSPKLR, PK1
1PYRUVATE CARBOXYLASE DEFICIENCYPC
1HPPSPTA1, EL2, SPH3, HS3, HPP
1GLUTATHIONE SYNTHETASE DEFICIENCYGSS, GSHS
1URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TONT5C3, UMPH1, PSN1
1EPDALDH7A1, ATQ1, EPD, PDE
1PYCNODYSOSTOSISCTSK
1PVODBMPR2, PPH1
1SMDP1SFTPB, SFTB3, SMDP1
1PULMONARY ALVEOLAR MICROLITHIASISSLC34A2
1MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANTCHRNG, ACHRG
1DHODH, URA1, POADS
1VITAMIN D-DEPENDENT RICKETS, TYPE ICYP27B1, VDD1, PDDR
1PPSHSRD5A2
1PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCYACOX1, ACOX, SCOX
117-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCYHSD17B3, EDH17B3
1PROGESTERONE RESISTANCEPGR
1HPABH4DPCBD, DCOH
1GITELMAN SYNDROMESLC12A3, NCCT, TSC
1PORPHYRIA, CONGENITAL ERYTHROPOIETICUROS
1SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIIDYNC2H1, DNCH2, DHC2, ATD3
1ERYTHROCYTOSIS, FAMILIAL, 2VHL
1POLYCYTHEMIA VERAJAK2
1ARPKDFCYT, PKHD1, ARPKD
1ALPHA-2-PLASMIN INHIBITOR DEFICIENCYPLI, SERPINF2
1CPHD4LHX4, CPHD4
1KOWARSKI SYNDROMEGH1, GHN, IGHD1B
1CPHD2PROP1, CPHD2
1LARON SYNDROMEGHR
1IGHD1AGH1, GHN, IGHD1B
1ACHM3CNGB3, ACHM3, ACHM1
1PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIESINSR, HHF5
1BJSBCS1L, FLNMS, GRACILE, BJS, PTD
1GLYCOGEN STORAGE DISEASE IXbPHKB
1GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITALPRKAG2, WPWS, CMH6
1GSD10PGAM2, PGAMM, GSD10
1HPABH4APTS
1HPABH4CQDPR, DHPR
1PKUPAH, PKU1
1PETERS-PLUS SYNDROMEB3GALTL; B3GTL, B3GLCT
1D-BIFUNCTIONAL PROTEIN DEFICIENCYHSD17B4
1PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILSEPX
1IFDGIF, IF
1HIDSMVK, MVLK
1PENTOSURIADCXR, P34H
1COUSIN SYNDROMETBX15
1PARKINSON-DEMENTIA SYNDROMEMAPT, MTBT1, DDPAC, MSTD
1PAPILLOMA OF CHOROID PLEXUSTP53, P53, LFS1
1SDSSBDS, SDS
1PANCREATIC AGENESIS, CONGENITALIPF1, MODY4
1PARK15FBXO7, FBX7, FBX, PKPS, PARK15
1HYPEROXALURIA, PRIMARY, TYPE IIGRHPR, GLXR
1HYPEROXALURIA, PRIMARY, TYPE IAGXT, SPAT
1RNSFAM20C, DMP4
1OPPGLRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4
1OPTB3CA2
1OPTB5OSTM1, GL, OPTB5
1OPTB2TNFSF11, OPGL, TRANCE, OPTB2
1OPTB1TCIRG1, TIRC7, OC116, OPTB1
1TORG-WINCHESTER SYNDROMEMMP2, CLG4A, MONA
1OSTEOGENESIS IMPERFECTA, TYPE IXPPIB, CYPB, OI9
1HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVEHPGD, PGDH1
1ORNITHINE AMINOTRANSFERASE DEFICIENCYOAT, GACR
1NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TOGP1BA
13-@METHYLGLUTACONIC ACIDURIA, TYPE IIIOPA3, MGA3
1PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVEPOLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS
1OMOD1GPC6, OMIMD1
1OGUCHI DISEASE 1SAG, RP47
1OODDWNT10A, SSPS
1OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVEGJA1, CX43, ODDD, SDTY3, ODOD, HSS
1LIS2RELN, RL
1MVABUB1B, BUBR1
1CSNB1BGRM6, MGLUR6, CSNB1B
1NPC1NPC1, NPC
1NIEMANN-PICK DISEASE, TYPE ASMPD1, NPD
1GAN1GAN, GAN1
1NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVECCT5, KIAA0098, CCTE
1NNMPV17, MTDPS6
1CIPANTRK1, TRKA, MTC
1CLN5CLN5
1CLN1PPT1, CLN1
1INAD1PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14
1NEURAMINIDASE DEFICIENCYNEU1, NEU, SIAL1
1GSLCTSA, PPGB, GSL, NGBE, GLB2
1NETHSPINK5, LEKTI
1HHF1ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2
1NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSISWT1, NPHS4
1NPHS1NPHS1, NPHN
1NPHP1NPHP1, NPH1, SLSN1, JBTS4
1AOIISLC26A2, DTD, DTDST, D5S1708, EDM4
1NEM2NEB, NEM2
1MYXOMA, INTRACARDIACPRKAR1A, TSE1, CNC1, CAR, PPNAD1
1SJS1HSPG2, PLC, SJS, SJA, SJS1
1MYOTONIA CONGENITA, AUTOSOMAL RECESSIVECLCN1
1MYOSCLEROSIS, AUTOSOMAL RECESSIVECOL6A2
1MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIARYR1, MHS, CCO
1CFTDACTA1, ASMA, NEM3, NEM1, CFTD1
1MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVEBIN1, AMPHL
1MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPEISCU, HML
1CARNITINE PALMITOYLTRANSFERASE I DEFICIENCYCPT1A
1CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSETCPT2
1AMRFSCARB2, CD36L2, LIMPII, AMRF
1MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORGCSTB, STFB, EPM1
1EJMEFHC1, FLJ10466, EJM1, JAE, EJA1
1MYELOPEROXIDASE DEFICIENCYMPO
1MYELOMA, MULTIPLELIG4
1MYELOFIBROSISJAK2
1MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEACHAT, CMS1A2
1MMDYSF, LGMD2B
1LGMD2HTRIM32, HT2A, LGMD2H, BBS11
1FCMDFKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4
1LGMD2CSGCG, LGMD2C, DMDA1, SCG3
1LGMD2BDYSF, LGMD2B
1LGMD2ACAPN3, CANP3
1SMA2SMN1, SMA1, SMA2, SMA3, SMA4
1LCCS1GLE1, GLE1L, LCCS, LCCS1
1SMA1SMN1, SMA1, SMA2, SMA3, SMA4
1MEBPOMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3
1HOLOCARBOXYLASE SYNTHETASE DEFICIENCYHLCS, HCS
1BIOTINIDASE DEFICIENCYBTD
1MULIBREY NANISMTRIM37, MUL, KIAA0898
1MUCOPOLYSACCHARIDOSIS TYPE VIIGUSB, MPS7
1MUCOPOLYSACCHARIDOSIS TYPE VIARSB, MPS6
1MORQUIO SYNDROME BGLB1
1MORQUIO SYNDROME AGALNS, MPS4A
1MUCOPOLYSACCHARIDOSIS TYPE IIIDGNS, G6S
1MUCOPOLYSACCHARIDOSIS TYPE IIICHGSNAT, TMEM76, MPS3C
1MUCOPOLYSACCHARIDOSIS TYPE IIIBNAGLU
1MUCOPOLYSACCHARIDOSIS TYPE IIIASGSH, MPS3A, SFMD
1MUCOLIPIDOSIS IVMCOLN1, ML4
1MUCOLIPIDOSIS III GAMMAGNPTAG
1MUCOLIPIDOSIS III ALPHA/BETAGNPTAB, GNPTA
1MUCOLIPIDOSIS II ALPHA/BETAGNPTAB, GNPTA
1MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM, AUTOSOMAL RECESSIVEDGUOK, DGK, MTDPS3
1DIAR2MYO5B, KIAA1119
1DBQDCANT1, SCAN1, DBQD
1NIJMEGEN BREAKAGE SYNDROMENBS1, NBS
1METHYLMALONYL-CoA EPIMERASE DEFICIENCYMCEE
1METHYLMALONIC ACIDURIA, cblB TYPEMMAB
1METHYLMALONIC ACIDURIA, cblA TYPEMMAA
1METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCYMUT, MCM
13-@METHYLGLUTACONIC ACIDURIA, TYPE IAUH
1METHYLCOBALAMIN DEFICIENCY, cblG TYPEMTR
1METHIONINE ADENOSYLTRANSFERASE DEFICIENCYMAT1A, MATA1, SAMS1
1METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASECYB5R3, DIA1, B5R
1METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5CYB5A, MCB5
1BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCYHIBCH
1METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSISRMRP, RMRPR, CHH
1CHHRMRP, RMRPR, CHH
1METACHROMATIC LEUKODYSTROPHYARSA
1METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCYPSAP, SAP1
1MRT1PRSS12, BSSP3, MRT1
1FRANK-TER HAAR SYNDROMESH3PXD2B, TKS4, KIAA1295, FTHS
1TRMASLC19A2, THTR1
1FMFMEFV, MEF, FMF
1MKS1MKS1, MKS, BBS13
1MAST SYNDROMEACP33, MAST, SPG21
1MSSSIL1, BAP, MSS
1MANNOSIDOSIS, BETA A, LYSOSOMALMANBA, MANB1
1MANNOSIDOSIS, ALPHA B, LYSOSOMALMAN2B1, MANB
1MADALMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1MALONYL-CoA DECARBOXYLASE DEFICIENCYMLYCD, MCD
1MAL DE MELEDASLURP1, MDM
1HOMG3CLDN16, PCLN1, HOMG3
1HOMG5CLDN19
1LUTHERAN NULLLU, AU, BCAM
1LIPOID PROTEINOSIS OF URBACH AND WIETHEECM1
1CMRDSAR1B, CMRD, SARA2, ANDD
1LIPASE DEFICIENCY, COMBINEDLMF1, TMEM112
1LEPROSY, SUSCEPTIBILITY TOTLR2, TIL4
1DONOHUE SYNDROMEINSR, HHF5
1LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCYLCAT
1LOCSLAMA3, LOCS
1GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCYSTAT5B
1SGDCEBPE, CRP1
1LACTIC ACIDOSIS, FATAL INFANTILESUCLG1, SUCLA1, MTDPS9
1PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCYPDX1
1PYRUVATE DEHYDROGENASE E2 DEFICIENCYDLAT, PDCE2
1ERYTHROCYTE LACTATE TRANSPORTER DEFECTSLC16A1, MCT1, HHF7
1KRABBE DISEASEGALC
1KEUTEL SYNDROMEMGP, NTI
1SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCYOXCT1, OXCT, SCOT
1HMSCTSC, CPPI, PALS, PLS, HMS, JPD
1PALSCTSC, CPPI, PALS, PLS, HMS, JPD
1KCS1TBCE, KCS, KCS1, HRD
1CILD1DNAI1, CILD1, ICS, PCD
1KAL3PROKR2, PKR2, GPR73L1, KAL3
1JBSUBR1, JBS
1HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVEDOCK8, MRD2
1IVAIVD
1ACETYLATION, SLOWNAT2, AAC2
1BRIC1ATP8B1, FIC1, BRIC, PFIC1
1MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOASTK13, AIE2
1INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVESCN9A, NENA, PN1, FEB3B
1IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPESMARCAL1, HARP, SIOD
1IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROMEDNMT3B, ICF
1ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPEABCA12, ICR2B, LI2
1LI1TGM1, ICR2, LI1
1HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATEFOXE1, FKHL15, TITF2, TTF2
1HYPOTHALAMIC HAMARTOMASGLI3, PAPA, PAPB, ACLS
1HYPOPROTEINEMIA, HYPERCATABOLICB2M
1HYPOPLASTIC LEFT HEART SYNDROMEGJA1, CX43, ODDD, SDTY3, ODOD, HSS
1HHRHSLC34A3, NPTIIC, HHRH
1HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVEDMP1, ARHR, ARHP
1HYPOPHOSPHATASIA, CHILDHOODALPL, HOPS, TNSALP
1HYPOPHOSPHATASIA, INFANTILEALPL, HOPS, TNSALP
1HRDTBCE, KCS, KCS1, HRD
1BARTTER SYNDROME, ANTENATAL, TYPE 2KCNJ1, ROMK1
1HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND EXTRAPYRAMIDAL SYNDROMEC2orf37
1LIHABCC8, SUR, PHHI, SUR1, HHF1, TNDM2
1GLYCOGEN STORAGE DISEASE 0, LIVERGYS2
1CVIDTNFRSF13B, TACI, CVID2
1APS1AIRE, APECED, APS1
1HPIIALDH4A1, ALDH4, P5CDH
1HPIPRODH, PRODH2, SCZD4
1NSHPTCASR, HHC1, PCAR1, FIH, EIG8
1HYPEROSTOSIS CORTICALIS GENERALISATASOST, VBCH
1PAGET DISEASE, JUVENILETNFRSF11B, OPG, OCIF
1HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROMESLC25A15, ORNT1, HHH
1HYPERLYSINEMIAAASS
1HYPERLIPOPROTEINEMIA, TYPE ILPL, LIPD, HDLCQ11
1LEYDIG CELL HYPOPLASIA, TYPE ILHCGR, LHR, LCGR
1HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATALUGT1A1, UGT1, GNT1, BILIQTL1
1DJSABCC2, CMOAT
1N-ACETYLGLUTAMATE SYNTHASE DEFICIENCYNAGS
1CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TOCPS1
1L-2-HYDROXYGLUTARIC ACIDURIAL2HGDH, C14orf160
1UFSHPSE2, HPA2, UFS
1MKKSMKKS, HMCS, KMS, MKS, BBS6
1HYDROLETHALUS SYNDROME 1HYLS1, FLJ32915
1WWSPOMT1, MDDGA1, MDDGB1, MDDGC1
1HYALINOSIS, INFANTILE SYSTEMICANTXR2, CMG2, JHF, ISH
1HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPEMTRR
1HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITYMTHFR
1HOMOCYSTINURIACBS
1HODGKIN LYMPHOMAKLHDC8B
1HISTIDINEMIAHAL, HSTD
1MOWAT-WILSON SYNDROMEZEB2, ZFHX1B, SMADIP1, SIP1
1HEXOKINASE DEFICIENCY HEMOLYTIC ANEMIAHK1
1BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2AKR1D1, SRD5B1, CBAS2
1VODISP110, IFI41, IFI75, VODI
1HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROMECCBE1, KIAA1983
1HFEBMP2, BMP2A
1HARTNUP DISORDERSLC6A19, HND
1NBIA1PANK2, NBIA1, PKAN, HARP
1HSSGJA1, CX43, ODDD, SDTY3, ODOD, HSS
1TTDN1C7orf11, ABHS, TTDN1
1FACTOR XII DEFICIENCYF12, HAF, HAE3
1HPABH4BGCH1, DYT5, HPABH4B
1GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE IINCF2
1GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE INCF1
1GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVECYBA
146,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, DHH-RELATEDDHH
1ODG1FSHR, ODG1
1GLYS1SLC5A2, SGLT2
1GLYCOGEN STORAGE DISEASE VIIPFKM, GSD7
1GLYCOGEN STORAGE DISEASE VPYGM
1GLYCOGEN STORAGE DISEASE IVGBE1
1GLYCOGEN STORAGE DISEASE IIIAGL, GDE
1GLYCOGEN STORAGE DISEASE IIGAA
1GLYCOGEN STORAGE DISEASE IbSLC37A4, G6PT1
1GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TOGSS, GSHS
1GLUTARIC ACIDEMIA IGCDH
1AAAAAAS, AAA
13-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCYHADHSC, SCHAD, HHF4
1GLC3ACYP1B1, GLC3A
1GHDDTBXAS1, GHOSAL, CYP5
1HYDATIDIFORM MOLENALP7, NOD12, PYPAF3, HYDM
1GOSCYL1BP1, NTKLBP1, GO
1GELEOPHYSIC DYSPLASIAADAMTSL2, KIAA0605
1GAUCHER DISEASE, TYPE IIICGBA
1GAUCHER DISEASE, TYPE IIIGBA
1GAUCHER DISEASE, TYPE IIGBA
1GAUCHER DISEASE, TYPE IGBA
1GM1-GANGLIOSIDOSIS, TYPE IIIGLB1
1GM1-GANGLIOSIDOSIS, TYPE IIGLB1
1GM1-GANGLIOSIDOSIS, TYPE IGLB1
1GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TOGCLC, GLCLC
1GALACTOSEMIAGALT
1GALACTOSE EPIMERASE DEFICIENCYGALE
1GALACTOKINASE DEFICIENCYGALK1
1FUCOSIDOSISFUCA1
1FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCYFBP1
1FRUCTOSE INTOLERANCE, HEREDITARYALDOB
1FRDAFXN, FRDA, FARR, X25
1BCSZNF469, KIAA1858, BCS
1FORMIMINOTRANSFERASE DEFICIENCYFTCD
1FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATEDFSHB
1FOLATE MALABSORPTION, HEREDITARYSLC46A1, HCP1, PCFT
1HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCYKNG1, KNG
1FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLYWNT7A
1FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLYGDF5, CDMP1, SYNS2, OS5
1FIBROMATOSIS, JUVENILE HYALINEANTXR2, CMG2, JHF, ISH
1FERTILE EUNUCH SYNDROMEGNRHR, LHRHR
1FARBER LIPOGRANULOMATOSISASAH1, AC
1FBSSLC2A2, GLUT2
1FAFANCA, FACA, FA1, FA, FAA
1FACTOR V DEFICIENCYF5
1SHEP5SLC45A2, MATP, AIM1, SHEP5
1EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPICGNRH1, LNRH
1EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUSEIF2AK3, PEK, PERK, WRS
1EDM4SLC26A2, DTD, DTDST, D5S1708, EDM4
1EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHYPLEC1, PLTN, EBS1
1ENTEROKINASE DEFICIENCYPRSS7, ENTK
1EPVFLVCR2, C14orf58, CCT, PVHH, EPV
1PCH4TSEN54, SEN54, PCH2A, PCH4
1AGS1TREX1, AGS1, CRV, HERNS
1EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVEADAMTS2, NPI
1EHLERS-DANLOS SYNDROME, TYPE VIPLOD, PLOD1
1EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORMCOL1A2
1SHFM6WNT10B, SHFM6
1EEM SYNDROMECDH3, CDHP, PCAD, HJMD
1CHNG5NKX2E, CSX, CHNG5
1ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVEADAMTSL4, TSRC1
1CLPED1HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7, CLPED1
1SSPSWNT10A, SSPS
1DDSHHSPG2, PLC, SJS, SJA, SJS1
1ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE ICDAN1, CDA1
1CDAN2SEC23B, CDAN2, HEMPAS
1CHMRQ1VLDLR, CARMQ1
1HSAN3IKBKAP, IKAP
1DMCDYM, FLJ90130, DMC, SMC
1DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITALDBH
1LACTASE PERSISTENCEMCM6
1LACTASE DEFICIENCY, CONGENITALLCT, LAC, LPH
1CSIDSI
1RCDP2GNPAT, DHAPAT
1DPYSDPYS, DHP
1DICARBOXYLICAMINO ACIDURIASLC1A1, EAAC1
1LPISLC7A7, LPI
1DIASTROPHIC DYSPLASIASLC26A2, DTD, DTDST, D5S1708, EDM4
1DONNAI-BARROW SYNDROMELRP2, DBS
1WFS1WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38
1CPHD3LHX3, CPHD3
1JLNS1KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2
1RHUC1SLC22A12, OAT4L, URAT1
1LSFCLRPPRC, LRP130, LSFC
1CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPECTNS
1CTNSCTNS
1CYSTINOSIS, ADULT NONNEPHROPATHICCTNS
1CYSTATHIONINURIACTH
1CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIAATP6V0A2, WSS, ARCL
1PITUITARY ADENOMA, ACTH-SECRETINGAIP, XAP2, ARA9
1CRIGLER-NAJJAR SYNDROMEUGT1A1, UGT1, GNT1, BILIQTL1
1CHNG2PAX8
1BGSRECQL4, RTS, RECQ4
1CRANIOECTODERMAL DYSPLASIAIFT122, WDR10, CED
1COSTELLO SYNDROMEHRAS
1ACCPNSLC12A6, KCC3A, KCC3B, KCC3, ACCPN
1MCDC1CHST6, MCDC1
1CHED2SLC4A11, BTR1, NABC1, CHED2, CDPD, FECD4
1CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESSSLC4A11, BTR1, NABC1, CHED2, CDPD, FECD4
1CNA2KERA, CNA2
1PLASMINOGEN DEFICIENCY, TYPE IPLG
1JALILI SYNDROMECNNM4, ACDP4
1ACHM2CNGA3, CNG3, ACHM2
1COH1COH1
1CSAERCC8, CKN1, CSA
1CITRULLINEMIA, CLASSICASS1, ASS
1CHONDROSARCOMAEXT1
1HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIALBR, PHA
1RCDP1PEX7, RCDP1
1BOCDPTHR1, PTHR, PFE
1BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4AMACR, CBAS4
1DIAR1SLC26A3, DRA, CLD
1CHSCHS1, LYST
1GS1MYO5A, MYH12, GS1
1CMT4AGDAP1, CMT4A, CMT2K, CMTRIA
1COFS1ERCC6, CKN2, COFS1, CSB, ARMD5
1CEREBROTENDINOUS XANTHOMATOSISCYP27A1, CYP27, CTX
1JBTSINPP5E, MORMS, JBTS1, CORS1
1CENANI SYNDACTYLISMLRP4, MEGF7, CLSS
1MARTSOLF SYNDROMERAB3GAP2, RAB3GAP150, p150, KIAA0839
1MCOPCT2SIX6, MCOPCT2
1CDSPSLC22A5, OCTN2, CDSP, SCD
1CARBOXYPEPTIDASE N DEFICIENCYCPN1, SCPN, CPN
1CDG2AMGAT2, CDGS2, CDG2A
1CDG1APMM2, CDG1A
1CANDF2CARD9, CANDF2
1C SYNDROMECD96, TACTILE
1PFIC1ATP8B1, FIC1, BRIC, PFIC1
1BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESSC20orf54, RFT2, BVVLS
1BWCNSEMG1, NEP1, C2F, BWCNS
1BLMRECQL3, RECQ2, BLM, BS
1SHEP6SLC24A2, NCKX4, SHEP6
1MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE IIPCNT, PCNT2, KEN, SCKL4, MOPD2
1SECKEL SYNDROME 1ATR, FRP1, SCKL
1BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHYCYP4V2, BCD
13-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCYMCCC2, MCCB
13-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCYMCCC1, MCCA
1APLHR, AU, MUHH1
1ATRANSFERRINEMIATF
1EAOHAPTX, AOA, AOA1
1ATATM, ATA, AT1
1RHPDNPHP3, NPH3, RHPD, MKS7
1ASPARTYLGLUCOSAMINURIAAGA
1CACPPRG4, CACP, MSF, SZP, HAPO
1PPACWISP3, PPAC, PPD
1ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASISVPS33B
1ATSSLC2A10, GLUT10, ATS
1GACIENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2
1ARGININOSUCCINIC ACIDURIAASL
1ARGININEMIAARG1
1APOLIPOPROTEIN C-II DEFICIENCYAPOC2
1ABSFGFR2, BEK, CFD1, JWS
1MCOPS3SOX2, MCOPS3
1ANONYCHIA CONGENITARSPO4, CRISTIN4
1ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCYPAX6, AN2, MGDA
1IRIDATMPRSS6, IRIDA
1ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOADNRAMP2
1TGDABCA1, ABC1, HDLDT1, TGD
1ALS2ALS2, ALSJ, PLSJ, IAHSP
1CORNEAL DYSTROPHY, GELATINOUS DROP-LIKETACSTD2, TROP2, M1S1
1AI2A1KLK4, EMSP1, PRSS17, AI2A1
1AI1CENAM, AIH2, AI1C
1CLN2TPP1, CLN2
1CLN3CLN3, BTS
1LCA2RPE65, RP20, LCA2
1LCA1GUCY2D, GUC2D, LCA1, CORD6, RCD2
1ALMSALMS1, ALSS, KIAA0328
1ALPHA-METHYLACETOACETIC ACIDURIAACAT1
1ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCYOGDH
1ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSISPOLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS
1ALUNCHR, AU, MUHH1
1ALKAPTONURIAHGD, AKU
1CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCYCYP11B2
1OCA3TYRP1, CAS2, GP75
1OCA1ATYR, SHEP3
1SCN1ELANE, ELA2, SCN1
1ADCCTP53, P53, LFS1
1GCCD1MC2R
1ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCYCYP17A1, CYP17, P450C17
1ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCYCYP11B1, P450C11, FHI
1POR DEFICIENCYPOR
1ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OFACADVL, VLCAD
1ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OFACADS, SCAD
1ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OFACADL, LCAD
1ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OFACADM, MCAD
1IADTBS19
1HSAN2AWNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2
1ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPEGDF5, CDMP1, SYNS2, OS5
1AEZSLC39A4, ZIP4
1CARPENTER SYNDROMERAB23
1ACLSGLI3, PAPA, PAPB, ACLS
1ACID PHOSPHATASE DEFICIENCYACP2
1CHONDRODYSPLASIA, GREBE TYPEGDF5, CDMP1, SYNS2, OS5
1ACG2COL2A1
1ACG1ATRIP11, TRIP230, CEV14, ACG1A
1ACHEIROPODYLMBR1, ACHP, C7orf2, PPD2
1CHACVPS13A, CHAC
1ABLMTP
1ZINC, ELEVATED PLASMAALB
1WOOLLY HAIR, AUTOSOMAL DOMINANTKRT74, K6IRS4, KRT6IRS4
1WOLFF-PARKINSON-WHITE SYNDROMEPRKAG2, WPWS, CMH6
1DDSWT1, NPHS4
1WT2H19, D11S813E, ASM1, BWS, WT2
1DA2AMYH3
1WHIM SYNDROMECXCR4, D2S201E, NPY3R, WHIM
1WEYERS ACROFACIAL DYSOSTOSISEVC
1WATSON SYNDROMENF1, VRNF, WSS, NFNS
1WS2AMITF, WS2A
1WS1PAX3, WS1, HUP2, CDHS, WS3
1VON WILLEBRAND DISEASEVWF, F8VWF
1SVDKCNJ13, SVD
1VRCPBEST1, VMD2, ARB, RP50
1ADHRFGF23, ADHR, HPDR2, PHPTC
1CVTHOXD10, HOX4D
1VENTRICULAR TACHYCARDIA, FAMILIALGNAI2, GNAI2B, GIP
1LQT1KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2
1VELOCARDIOFACIAL SYNDROMETBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR
1VATER ASSOCIATIONHOXD13, HOX4I, SPD, BDSD
1VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHYTREX1, AGS1, CRV, HERNS
1MUCKLE-WELLS SYNDROMENLRP3, CIAS1, FCU, FCAS, NALP3, PYPAF1
1IBD11MUC3A
1TRITANOPIAOPN1SW, BCP, CBT
1TRIGONOCEPHALY, NONSYNDROMICFGFR1, FLT2, KAL2, OGD
1TRPS3TRPS1
1TRPS1TRPS1
1TRICHODENTOOSSEOUS SYNDROMEDLX3, TDO, AI4
1ETM1DRD3, ETM1, FET1
1TFHFE, HLA-H, HFE1, MVCD7
1WITKOP SYNDROMEMSX1, HOX7, HYD1, OFC5, STHAG1
1THYROTOXIC PERIODIC PARALYSISCACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1
1GRTHTHRB, ERBA2, THR1, PRTH
1DGSTBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR
1THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCEF5
1AITPFCGR2C, CD32C
1THC2FLJ14813, THC2
1TD2FGFR3, ACH
1TD1FGFR3, ACH
1HHTENG, END, HHT1, ORW
1BLAU SYNDROMENOD2, CARD15, IBD1, CD, ACUG, PSORAS1
1TCCNOG, SYM1, SYNS1
1SYNS1NOG, SYM1, SYNS1
1SYNDACTYLY, TYPE VHOXD13, HOX4I, SPD, BDSD
1SYNDACTYLY, TYPE IVLMBR1, ACHP, C7orf2, PPD2
1SYNDACTYLY, TYPE IIIGJA1, CX43, ODDD, SDTY3, ODOD, HSS
1SPD1HOXD13, HOX4I, SPD, BDSD
1SVASELN
1STOMATOCYTOSIS IEPB72
1STIFF SKIN SYNDROMEFBN1, MFS1, WMS, SSKS
1STL3COL11A2, STL3, DFNA13, DFNB53
1PCOS1FST, FS
1STEATOCYSTOMA MULTIPLEXKRT17, PC2, PCHC1
1STAPES ANKYLOSIS WITH BROAD THUMB AND TOESNOG, SYM1, SYNS1
1SMDKTRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1
1SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPECOL2A1
1SEDCCOL2A1
1SCA2ATXN2, ATX2, SCA2
1SCA6CACNA1A, CACNL1A4, SCA6
1SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANTVAPB, VAPC, ALS8
1MYOPATHY, SPHEROID BODYTTID, MYOT
1SPH1ANK1, SPH2
1SPG4SPAST, SPG4
1SPG3ASPG3A
1SMSRAI1, SMCR, SMS
1SEPTOOPTIC DYSPLASIAHESX1, RPX, CPHD5
1SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROMEFBN1, MFS1, WMS, SSKS
1KERATOSIS, SEBORRHEICPIK3CA
1UMSTBX3
1SPMMMYH7, CMH1, MPD1, CMD1S, SPMM, SPMD
1AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPETRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1
1SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPEDES, CMD1I
1EDMD2LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1SALIVARY GLAND ADENOMA, PLEOMORPHICPLAG1, SGPA, PSA
1SS1HLA-DR1B, SS1
1ALSGFGF10
1SRSH19, D11S813E, ASM1, BWS, WT2
1RDCPITX2, IDG2, RIEG1, RGS, IGDS2
1RIEG1PITX2, IDG2, RIEG1, RGS, IGDS2
1RP10IMPDH1, RP10, LCA11
1RP9RP9
1RP1RP1, ORP1
1DDDKRT5, DDD
1RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANTSLC4A1, AE1, EPB3
1RAPH BLOOD GROUP SYSTEMCD151, PETA3, SFA1, MER2
1PTOS1ZFHX4, ZFH4
1PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEABCC6, ARA, ABC34, MLP1, PXE
1PSEUDO-VON WILLEBRAND DISEASEGP1BA
1PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANTNR3C2, MLR, MCR
1PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAKDHS
1XFSLOXL1, LOXL
1PSACHCOMP, EDM1, MED, PSACH
1PROTOPORPHYRIA, ERYTHROPOIETICFECH, FCE
1THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANTPROC, PC
1HGPSLMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1FBDITM2B, BRI, ABRI, FBD
1CURRARINO SYNDROMEMNX1, HLXB9, HOXHB9, SCRA1
1PCSBUB1B, BUBR1
1PRECOCIOUS PUBERTY, MALE-LIMITEDLHCGR, LHR, LCGR
1PRECOCIOUS PUBERTY, CENTRALKISS1R, GPR54
1PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIASHOXA13, HOX1J
1PORPHYRIA, ACUTE INTERMITTENTHMBS, PBGD, UPS
1DSAP1SART3, P100, KIAA0156, TIP110, DSAP1
1PORENCEPHALY, FAMILIALCOL4A1
1GCPSGLI3, PAPA, PAPB, ACLS
1PJSSTK11, PJS, LKB1
1APCAPC, GS, FPC, BTPS2
1JPHTMADH4, DPC4, SMAD4, JIP
1HEPODTNFRSF11A, RANK, ODFR, OFE, OPTB7
1MASGNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C
1POLYDACTYLY, PREAXIAL IVGLI3, PAPA, PAPB, ACLS
1PPD2LMBR1, ACHP, C7orf2, PPD2
1POLYDACTYLY, POSTAXIAL, TYPE A1GLI3, PAPA, PAPB, ACLS
1POLYCYSTIC KIDNEYSPKD1
1KINDLER SYNDROMEKIND1, URP1, C20orf42
1PNEUMOTHORAX, PRIMARY SPONTANEOUSFLCN, BHD
1IGHD2GH1, GHN, IGHD1B
1PPCRACRB1, RP12, LCA8
1PBTSNAI2, SLUG, WS2D
1MEN2ARET, MEN2A
1THIOUREA TASTINGTAS2R38, T2R61, PTC
1PERIODONTITIS, AGGRESSIVE, 1CTSC, CPPI, PALS, PLS, HMS, JPD
1HOKPPCACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1
1ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSISKCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3
1PEPDPEPD
1BCPMATP2C1, BCPM, HHD
1LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANTLMNB1
1PHALBR, PHA
1PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUMPRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2
1CHAR SYNDROMETFAP2B, CHAR
1PERRY SYNDROMEDCTN1, HMN7B
1PFMCCDMSX2, CRS2, HOX8
1PFMMSX2, CRS2, HOX8
1PMCSCN4A, HYPP, NAC1A, HOKPP2
1PGL1SDHD, PGL1
1PAND1COMT
1PAROXYSMAL EXTREME PAIN DISORDERSCN9A, NENA, PN1, FEB3B
1IBMPFDVCP, IBMPFD
1OTOFACIOCERVICAL SYNDROMEEYA1, BOR
1BUSCHKE-OLLENDORFF SYNDROMELEMD3, MAN1
1OPTA2CLCN7, CLC7, OPTA2, OPTB4
1POHGNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C
1GDDANO5, TMEM16E, GDD1, LGMD2L
1OGDFGFR1, FLT2, KAL2, OGD
1OSTEOGENESIS IMPERFECTA, TYPE ICOL1A1
1ODACAN, AGC1, CSPG1, MSK16, SEDK
1OS1FRZB, FRZB1, SRFP3, OS1
1OPTIC NERVE HYPOPLASIA, BILATERALPAX6, AN2, MGDA
1OPA1OPA1, NTG, NPG
1OPTIC ATROPHY 3, AUTOSOMAL DOMINANTOPA3, MGA3
1SCA7ATXN7, SCA7, OPCA3
1SCA1ATXN1, ATX1, SCA1
1OPMDPABPN1, PABP2, PAB2
1FEINGOLD SYNDROMEMYCN, NMYC, ODED, MODED
1ODDDGJA1, CX43, ODDD, SDTY3, ODOD, HSS
1NS1PTPN11, PTP2C, SHP2, NS1
1SSS2HCN4, SSS2
1CSNBAD2PDE6B, PDEB, RP40, CSNBAD2
1NEUTROPHILIA, HEREDITARYCSF3R, GCSFR
1CYCLIC HEMATOPOIESISELANE, ELA2, SCN1
1HNPPPMP22, CMT1A, CMT1E, DSS
1HSAN1SPTLC1, LBC1, SPT1, HSN1, HSAN
1MEN2BRET, MEN2A
1NEUROFIBROMATOSIS, FAMILIAL SPINALNF1, VRNF, WSS, NFNS
1NF1NF1, VRNF, WSS, NFNS
1HNASEPT9, MSF, MSF1, NAPB
1SCHWANNOMATOSISNF2
1HNFJ1UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2
1NEM3ACTA1, ASMA, NEM3, NEM1, CFTD1
1NPSLMX1B, NPS1
1NAEGELI SYNDROMEKRT14
1CNC1PRKAR1A, TSE1, CNC1, CAR, PPNAD1
1DYSTROPHIA MYOTONICA 1DMPK, DM, DMK
1MYOTONIA CONGENITA, AUTOSOMAL DOMINANTCLCN1
1MPD1MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD
1EA1KCNA1, AEMK, EA1
1LGMD1BLMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1LGMD1ATTID, MYOT
1HMN2AHSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A
1CDPTEN, MMAC1, GLM2
1MULLERIAN APLASIA AND HYPERANDROGENISMWNT4, SERKAL
1TRISMUS-PSEUDOCAMPTODACTYLY SYNDROMEMYH8
1PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS
1MIRROR MOVEMENTS, HEREDITARYDCC
1HPE2SIX3, HPE2
1KNIEST DYSPLASIACOL2A1
1METATROPIC DYSPLASIATRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1
1METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPEPTHR1, PTHR, PFE
1METACHONDROMATOSISPTPN11, PTP2C, SHP2, NS1
1MRD1MBD5, KIAA1461, MRD1
1MELORHEOSTOSISLEMD3, MAN1
1MELANOMA-ASTROCYTOMA SYNDROMECDKN2A, MTS1, P16, MLM, CMM2
1CMM2CDKN2A, MTS1, P16, MLM, CMM2
1CMMPTEN, MMAC1, GLM2
1MHAMYH9, MHA, FTNS, DFNA17
1MARSHALL SYNDROMECOL11A1, STL2
1MFSFBN1, MFS1, WMS, SSKS
1TCOFTCOF1, MFD1
1HOMG2FXYD2, ATP1G1, HOMG2
1ARMD2ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2
1VMDBEST1, VMD2, ARB, RP50
1BERNARD-SOULIER SYNDROME, AUTOSOMAL DOMINANTGP1BA
1EPSTEIN SYNDROMEMYH9, MHA, FTNS, DFNA17
1FTNSMYH9, MHA, FTNS, DFNA17
1CHROMOSOME 5q DELETION SYNDROMERPS14, EMTB
1BRRSPTEN, MMAC1, GLM2
1LYMPHEDEMA-DISTICHIASIS SYNDROMEFOXC2, FKHL14, MFH1
1LYMPHEDEMA, HEREDITARY, IAFLT4, VEGFR3, PCL, LMPH1A
1KCNH2ALG10, KCR1
1FPLD2LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1PLSDTCOL2A1
1LEOPARD SYNDROME 1PTPN11, PTP2C, SHP2, NS1
1LEIOMYOMA, HEREDITARY MULTIPLE, OF SKINFH
1LEGG-CALVE-PERTHES DISEASECOL2A1
1LRS1FLNB, SCT, AOI, LRS1
1KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESSGJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID
1WS3PAX3, WS1, HUP2, CDHS, WS3
1PPKS1DSG1, PPKS1, SPPK1
1KERATODERMA, PALMOPLANTAR, WITH DEAFNESSGJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID
1KTCN1VSX1, RINX, PPCD, PPD, KTCN
1KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANTGJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID
1KERATITIS, HEREDITARYPAX6, AN2, MGDA
1KAPOSI SARCOMAIL6, IFNB2, BSF2, HSF, HGF
1KAL2FGFR1, FLT2, KAL2, OGD
1SPSTBX4
1IVIC SYNDROMESALL4, HSAL4
1ICPABCB4, PGY3, MDR3
1SMMCISHH, HPE3, HLP3, SMMCI, MCOPCB5
1HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANTSTAT3, APRF, HIES
1ICHTHYOSIS, BULLOUS TYPEKRT2, KRT2A, KRT2E
1ICHTHYOSIS VULGARISFLG, ATOD2
1MUHH1HR, AU, MUHH1
1HYPOTRICHOSIS SIMPLEX OF SCALPCDSN, HTSS
1PHSGLI3, PAPA, PAPB, ACLS
1HYPOPHOSPHATASIA, ADULTALPL, HOPS, TNSALP
1HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASEGATA3, HDR
1HCHFGFR3, ACH
1HHC1CASR, HHC1, PCAR1, FIH, EIG8
1HYPERTHYROXINEMIA, FAMILIALTTR, PALB
1PRTHTHRB, ERBA2, THR1, PRTH
1MHS1RYR1, MHS, CCO
1HYPERPIGMENTATION, FAMILIAL PROGRESSIVEKITLG, MGF, SF, SCF, SHEP7
1HRPT2HRPT2, C1orf28
1HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUSLRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4
1HYPERLIPOPROTEINEMIA, TYPE VAPOA5
1FCHLLPL, LIPD, HDLCQ11
1HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE BAPOB, FLDB, LDLCQ4
1HCA2SAC, HCA2
1HYPERCHLORHIDROSIS, ISOLATEDCA12
1GILBERT SYNDROMEUGT1A1, UGT1, GNT1, BILIQTL1
1HYPERALPHALIPOPROTEINEMIACETP, HDLCQ10
1WGN1VCAN, CSPG2, WGN, WGN1, ERVR
1HDHTT, HD, IT15
1HUMEROSPINAL DYSOSTOSISCHST3, C6ST, C6ST1, HSD
1HPE4TGIF, HPE4
1HPE3SHH, HPE3, HLP3, SMMCI, MCOPCB5
1HOSTBX5
1PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANTTNFRSF1A, TNFR1, TNFAR, FPF
1HEPATIC ADENOMAS, FAMILIALHNF1A, TCF1, MODY3, IDDM20
1FHM1CACNA1A, CACNL1A4, SCA6
1BFHCOL4A3
1OS2MATN3, EDM5, HOA, OS2
1HAWKINSINURIAHPD
1HASHIMOTO THYROIDITISCTLA4, IDDM12, CELIAC3, GRD4
1HAND-FOOT-UTERUS SYNDROMEHOXA13, HOX1J
1AEXSCYP19A1, CYP19, ARO
1GVMGLML, GVM, VMGLOM
1RENAL CYSTS AND DIABETES SYNDROMEHNF1B, TCF2, HNF2, MODY5, FJHN, HPC11
1IRID2PITX2, IDG2, RIEG1, RGS, IGDS2
1GTSSLITRK1, KIAA1910, TTM
1GSDPRNP, PRIP
1SFDTIMP3, SFD
1FECD1COL8A2, FECD1, PPCD2
1FRONTONASAL DYSPLASIAALX3
1FRASIER SYNDROMEWT1, NPHS4
1MENTAL RETARDATION, FRA12A TYPEDIP2B, KIAA1463
1FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROMEPAX6, AN2, MGDA
1FEDLCAT
1LAURIN-SANDROW SYNDROMEMIPOL1
1CFEOM1KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3B
1GINGFSOS1, GINGF, GF1, HGF, NS4
1DESMOID DISEASE, HEREDITARYAPC, GS, FPC, BTPS2
1BHDFLCN, BHD
1FOPACVR1, ACVRLK2, ALK2, FOP
1FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANTMEFV, MEF, FMF
1EVR1FZD4, EVR1
1EXOSTOSES, MULTIPLE, TYPE IIEXT2
1EXOSTOSES, MULTIPLE, TYPE IEXT1
1CSBERCC6, CKN2, COFS1, CSB, ARMD5
1ERYTHROCYTOSIS, FAMILIAL, 1EPOR
1ERYTHERMALGIA, PRIMARYSCN9A, NENA, PN1, FEB3B
1AAT4MYH11, AAT4, FAA4
1CYLINDROMATOSIS, FAMILIALCYLD1, CDMT, EAC, MFT1
1EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESSCOL2A1
1EDM1COMP, EDM1, MED, PSACH
1EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILSCOL7A1
1EBS-MPKRT5, DDD
1EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPEPLEC1, PLTN, EBS1
1EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIALCOL7A1
1DDEBCOL7A1
1TBDNCOL7A1
1MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIAPDGFRB, PDGFR
1CAMURATI-ENGELMANN DISEASETGFB1, DPD1, CED
1AI3FAM83H, AI3
1EL2SPTA1, EL2, SPH3, HS3, HPP
1EHLERS-DANLOS SYNDROME, PROGEROID FORMB4GALT7, XGALT1, XGPT1
1EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANTCOL3A1
1EHLERS-DANLOS SYNDROME, TYPE IICOL5A1
1ECTOPIA LENTIS, ISOLATEDFBN1, MFS1, WMS, SSKS
1ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANTGJB6, CX30, DFNA3B, HED, ED2, DFNB1B
1RHSTP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8
1DYT12ATP1A3, DYT12, RDP
1DYT1DYT1, TOR1A
1DYX1DYX1C1, DYXC1, DYX1
1DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1ADAR, DRADA, DSH, DSRAD, IFI4, G1P1
1BASAL LAMINAR DRUSENHF1, CFH, HUS, ARMD4, AHUS1
1DHRDEFEMP1, FBNL, DHRD
1DIABETES MELLITUS, INSULIN-DEPENDENT, 2INS, MODY10, IDDM2
1MODY2GCK, HHF3
1MODY1HNF4A, TCF14, MODY1
1DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMALAQP2
1DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, AVRP, VP
1DPRKRT14
1DENTINOGENESIS IMPERFECTA, SHIELDS TYPE IIIDSPP, DPP, DGI1, DFNA39, DTDP2
1DGI1DSPP, DPP, DGI1, DFNA39, DTDP2
1MAFD1SLC6A3, DAT1
1DENTIN DYSPLASIA, TYPE IIDSPP, DPP, DGI1, DFNA39, DTDP2
1DRPLAATN1, DRPLA, HRS, NOD
1PFEPTHR1, PTHR, PFE
1CADASILNOTCH3, CADASIL, CASIL
1OPTIC ATROPHY 1 AND DEAFNESSOPA1, NTG, NPG
1DFNA1DIAPH1, DFNA1, LFHL1
1DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOESGJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID
1DARATP2A2, ATP2B, DAR
1CUTIS GYRATA SYNDROME OF BEARE AND STEVENSONFGFR2, BEK, CFD1, JWS
1CROUZON SYNDROMEFGFR2, BEK, CFD1, JWS
1CRI-DU-CHAT SYNDROMECTNND2, NPRAP
1CREATINE PHOSPHOKINASE, ELEVATED SERUMCAV3, LGMD1C, LQT9
1CRS1TWIST1, ACS3, SCS, CRS1
1CMDDANKH, HANK, ANK, CMDJ, CCAL2, CPPDD
1CDHSPAX3, WS1, HUP2, CDHS, WS3
1CDLS1NIPBL, CDLS1
1LCD1TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD
1PPCD1VSX1, RINX, PPCD, PPD, KTCN
1CDGG1TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD
1CORNEAL DYSTROPHY, FLECKPIKFYVE, PIP5K3
1EBMDTGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD
1CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDERUBIAD1, TERE1, SCCD
1HCPCPOX
1EBN2KCNQ3, EBN2, BFNC2
1EBN1KCNQ2, EBN1
1CCAFBN2, CCA
1CORD2CRX, CORD2, CRD, LCA7
1COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OFC1NH, HAE1, HAE2, SERPING1
1LYNCH SYNDROME IMSH2, COCA1, FCC1, HNPCC1
1COLOBOMA OF OPTIC NERVEPAX6, AN2, MGDA
1PAPILLORENAL SYNDROMEPAX2
1FCAS1NLRP3, CIAS1, FCU, FCAS, NALP3, PYPAF1
1DIGITAL CLUBBING, ISOLATED CONGENITALHPGD, PGDH1
1CCFPITX1, PTX1, BFT, POTX, CCF
1CCDRUNX2, CBFA1, PEBP2A1, AML3
1PPSIRF6, VWS, LPS, PIT, PPS, OFC6
1VWSIRF6, VWS, LPS, PIT, PPS, OFC6
1PNKD1MR1, TAHCCP2, KIPP1184, BRP17, PNKD, FPD1, PDC, DYT8
1BHCNKX2-1, TITF1, NKX2A, TTF1
1CCAL2ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD
1ALGS1JAG1, AGS, AHD
1CHERUBISMSH3BP2, CRPM
1CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESSPMP22, CMT1A, CMT1E, DSS
1CMT1APMP22, CMT1A, CMT1E, DSS
1CMT2A1KIF1B, CMT2A, CMT2A1, NBLST1
1CMT1BMPZ, CMT1B, CMTDI3, CHM, DSS
1KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANTGDF6, CDMP2, MCOP4
1EAR WAX, WET/DRYABCC11, MRP8, EWWD, WW
1SOTOS SYNDROMENSD1, ARA267, STO
1CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2ITM2B, BRI, ABRI, FBD
1SCA31BEAN, SCA31
1CENTRAL CORE DISEASE OF MUSCLERYR1, MHS, CCO
1LADITGB2, CD18, LCAMB, LAD
1CCMCCM1, CAM, KRIT1
1CATARACT, LAMELLARHSF4, CTM
1CZP1GJA8, CX50, CAE1
1CATARACT-MICROCORNEA SYNDROMEGJA8, CX50, CAE1
1CATARACT, CRYSTALLINE ACULEIFORMCRYGD, CRYG4, CCP
1CTS1TTR, PALB
1PGL4SDHB, SDH2, SDHIP, PGL4
1HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANTBCMO1, BCDO, BCO1
1RCM1TNNI3, CMH7, CMD2A, RCM1, CMD1FF
1CMH4MYBPC3, CMH4
1CMH3TPM1, CMH3, CMD1Y
1CMH2TNNT2, CMH2, CMD1D, RCM3, LVNC6
1CARDIAC CONDUCTION DEFECTAKAP10
1CARCINOID TUMORS, INTESTINALSDHD, PGL1
1CAMPOMELIC DYSPLASIASOX9, CMD1, SRA1
1CAFFEY DISEASECOL1A1
1BLMYC
1PFHB1ASCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2
1SHEP4SLC24A5, NCKX5, SHEP4
1BOR1EYA1, BOR
1BOFSTFAP2A, AP2TF, BOFS
1BRACHYOLMIA TYPE 3TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1
1BDEHOXD13, HOX4I, SPD, BDSD
1BDDHOXD13, HOX4I, SPD, BDSD
1BDCGDF5, CDMP1, SYNS2, OS5
1BDB1ROR2, BDB1, BDB, NTRKR2
1BOOMERANG DYSPLASIAFLNB, SCT, AOI, LRS1
1YTACHE, YT
1WRSLC4A1, AE1, EPB3
1WDSLC4A1, AE1, EPB3
1SCERMAP, SC, RD
1RDERMAP, SC, RD
1OKBSG
1LULU, AU, BCAM
1INLUKLF1, EKLF, INLU, HBFQTL6
1IiGCNT2
1FYDARC, FY, GPD, WBCQ1
1DISLC4A1, AE1, EPB3
1COAQP1, CHIP28, CO
1BPESFOXL2, BPES, BPES1, PFRK, POF3
1AORTIC VALVE DISEASENOTCH1, TAN1
1BCNSPTCH1, NBCCS, BCNS, HPE7
1MJDATXN3, MJD, SCA3
1SCRATEAD1, TCF13, REF1
1ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTSNKX2E, CSX, CHNG5
1AOIIIFLNB, SCT, AOI, LRS1
1AOIFLNB, SCT, AOI, LRS1
1EA2CACNA1A, CACNL1A4, SCA6
1STL1COL2A1
1DA1TPM2, TMSB, AMCD1, DA1, DA2B, NEM4
1ARTERIOVENOUS MALFORMATIONS OF THE BRAINIL6, IFNB2, BSF2, HSF, HGF
1ARVD1TGFB3
1TBSSALL1, HSAL1, TBS
1STHAG1MSX1, HOX7, HYD1, OFC5, STHAG1
1SPDA1HLA-B, SPDA1
1ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATETP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8
1ANPAX6, AN2, MGDA
1HAEC1NH, HAE1, HAE2, SERPING1
1DBARPS19, DBA, DBA1
1AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1TRPM7, LTRPC7, CHAK
1AMYLOIDOSIS, PRIMARY CUTANEOUSOSMR, OSMRB
1AMYLOIDOSIS VIITTR, PALB
1AMYLOIDOSIS VICST3, ARMD11
1AMYLOIDOSIS, FINNISH TYPEGSN
1AI4DLX3, TDO, AI4
1AI1BENAM, AIH2, AI1C
1ALZHEIMER DISEASE 2APOE, AD2, LPG, LDLCQ5
1ALTERNATING HEMIPLEGIA OF CHILDHOODATP1A2, FHM2, MHP2
1GRACYP11B1, P450C11, FHI
1PHP1AGNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C
1TIETZ SYNDROMEMITF, WS2A
1ADULT SYNDROMETP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8
1ADENYLOSUCCINASE DEFICIENCYADSL
1ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTESPKLR, PK1
1SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCYADA
1AKVATP2A2, ATP2B, DAR
1APERT SYNDROMEFGFR2, BEK, CFD1, JWS
1NF2NF2
1ACHFGFR3, ACH

Database Center for Life Science