Non-allelic heterogeneity

Source: OMIM morbidmap ('09-1-8)

FrequencyDiseaseRelated Gene
23NIDDMGPD2
NEUROD1, NIDDM
IRS1
IGF2BP2, IMP2
WFS1, WFRS, WFS, DFNA6
NIDDM4
CDKAL1
VEGF
ENPP1, PDNP1, NPPS, M6S1, PCA1
GCK, HHF3
TCF7L2, TCF4
ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2
KCNJ11, BIR, PHHI, HHF2, TNDM3
MAPK8IP1, IB1
TCF1, HNF1A, MODY3
IPF1
IRS2
TCF2, HNF2, MODY5, FJHN
GCGR
RETN, RSTN, FIZZ3
AKT2
HNF4A, TCF14, MODY1
NIDDM3
22SCZDCHI3L1, GP39, YKL40
DISC1, SCZD9
DISC2
SYN2
DRD3, ETM1, FET1
SCZD3
DTNBP1, HPS7
SCZD6
SCZD11
SCZD2
DAO, DAMOX
HTR2A
SCZD7
G72
AKT1
SCZD10
SCZD8
RTN4R, NOGOR
COMT
APOL1
APOL2
APOL4
20OBESITYSDC3, SYND3, SDCN
NR0B2, SHP
GHRL
PPARG, PPARG1, PPARG2
OB4
UCP1
CART
ADRB2
PPARGC1B, PGC1B, PERC
SIM1
ENPP1, PDNP1, NPPS, M6S1, PCA1
ADRB3
OB10P
OB10Q
UCP2
UCP3
FTO
AGRP, ART, AGRT
MC4R
MC3R
20PROSTATE CANCERRNASEL, RNS4, PRCA1, HPC1
PCAP
MAD1L1, TXBP181
HPC4
HIP1
MSR1
N33
KLF6, COPEB, BCD1, ZF9
PTEN, MMAC1
MXI1
CD82, SAR2, KAI1, ST6
BRCA2, FANCD1
ATBF1
ELAC2, HPC2
TCF2, HNF2, MODY5, FJHN
HPCQTL19
HPC3
CHEK2, RAD53, CHK2, CDS1, LFS2
AR, DHTR, TFM, SBMA, KD, SMAX1
HPCX
19AMLGMPS
MLF1
LPP
CHIC2, BTL
KIT, PBT
NSD1, ARA267, STO
NPM1
WHSC1L1, NSD3
JAK2
NUP214, D9S46E, CAN, CAIN
AF10
CALM, CLTH
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
17CRCPLA2G2A, PLA2B, PLA2L, MOM1
NRAS
ODC1
PIK3CA
TLR2, TIL4
PDGFRL, PDGRL, PRLTS
TLR4, ARMD10
PTPRJ, DEP1
MLH3, HNPCC7
AKT1
BUB1B, BUBR1
TP53, P53, LFS1
FLCN, BHD
AXIN2
SMAD7, MADH7
AURKA, STK15, AURORA2, BTAK, ARK1
EP300
16BREAST CANCERCASP8, MCH5, ALPS2B
BARD1
PIK3CA
HMMR
RB1CC1, CC1, KIAA0203
SLC22A1L, BWSCR1A, IMPT1
ATM, ATA, AT1
KRAS2, RASK2, NS3
BRCA2, FANCD1
AKT1
RAD51A, RECA
PALB2, FANCN
TP53, P53, LFS1
BRIP1, BACH1, FANCJ
PPM1D, WIP1
CHEK2, RAD53, CHK2, CDS1, LFS2
15SLEPTPN22, PEP, PTPN8, LYP
FCGR2B, CD32
FCGR3A, CD16, IGFR3
TNFSF6, APT1LG1, FASL
SLEB1, SLE1
STAT4
PDCD1, SLEB2
TREX1, AGS1, AGS5, CRV, HERNS
SLEB3
C4A, C4S
SLEH1
SLEB4
SLEB5
DNASE1, DNL1
SLEB6
14ADAPBB2, FE65L1
AD10
NOS3
PACIP1, PAXIP1L, PTIP
AD6
PLAU, URK
SORL1, LR11, SORLA
A2M
AD5
BLMH, BMH
ACE, DCP1, ACE1
MPO
AD9
AD8
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
13IBD1IBD7
IL23R
IBD9
IBD5
SLC22A4, OCTN1
IBD3
DEFB4, DEFB2
DLG5, PDLG, KIAA0583
IBD2
IBD4
IBD8
NOD2, CARD15, IBD1, CD, ACUG, PSORAS1
IBD6
13LUNG CANCERCASP8, MCH5, ALPS2B
DLEC1, DLC1
RASSF1
PIK3CA
PRKN, PARK2, PDJ, LPRS2
EGFR
BRAF
MAP3K8, COT, EST, TPL2
SLC22A1L, BWSCR1A, IMPT1
PPP2R1B
KRAS2, RASK2, NS3
ERBB2, NGL, NEU, HER2
CYP2A6, CYP2A3, CYP2A, P450C2A
12BBSBBS5
ARL6, BBS3
BBS7
BBS12, FLJ35630, C4orf24
PTHB1, BBS9
TRIM32, HT2A, LGMD2H, BBS11
BBS1
BBS10, C12orf58, FLJ23560
TTC8, BBS8
BBS4
BBS2
MKKS, HMCS, KMS, MKS, BBS6
12GASTRIC CANCERMUTYH, MYH
IL1B
IL1RN
CASP10, MCH4, ALPS2
PIK3CA
APC, GS, FPC
IRF1, MAR
KLF6, COPEB, BCD1, ZF9
FGFR2, BEK, CFD1, JWS
KRAS2, RASK2, NS3
CDH1, UVO, LCAM, ECAD
ERBB2, NGL, NEU, HER2
11MALARIA, SUSCEPTIBILITY TOFY, GPD
FCGR2B, CD32
CR1, C3BR
GYPC, GE, GPC
GYPA, MN, GPA
TNF, TNFA
CD36, CHDS7
TIRAP
NOS2A, NOS2
SLC4A1, AE1, EPB3
ICAM1
11PDPARK10
PARK3
NR4A2, NURR1, NOT, TINUR
UCHL1, PARK5
SNCAIP
TBP, SCA17
DBH
DRD4
MAPT, MTBT1, DDPAC, MSTD
NDUFV2
PARK12
10HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TOIL8RA
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
10LSBCS1L, FLNMS, GRACILE, BJS, PTD
SDHA, SDH2, SDHF
NDUFS4, AQDQ
DLD, LAD, PHE3
SURF1
COX15
NDUFS3
NDUFS8
NDUFV1, UQOR1
NDUFS7, PSST
9RAPADI4, PADI5, PAD
PTPN22, PEP, PTPN8, LYP
IL10, CSIF
STAT4
SLC22A4, OCTN1
HLA-DR1B
NFKBIL1
MHC2TA, C2TA
RUNX1, CBFA2, AML1
9PSORS1PSORS7
PSORS4
PSORS5
PSORS3
PSORS9
IL12B, NKSF2
HLA-C, PSORS1
PSORS2, PSS1
PSORS6
9GLIOMA OF BRAIN, FAMILIALMSH2, COCA1, FCC1, HNPCC1
PPARG, PPARG1, PPARG2
RTE1
PTEN, MMAC1
LGI1, EPT, ETL1
DMBT1
WDR11, DR11, KIAA1351
GLM1
ERBB2, NGL, NEU, HER2
8ZSPEX14
PXF, HK33, D1S2223E, PEX19
PEX10, NALD
PEX13, ZWS, NALD
PEX3
PEX1, ZWS1
PEX5, PXR1, PTS1R
PEX26
8IGERSELP, GRMP
SPINK5, LEKTI
HAVCR1, HAVCR
PLA2G7, PAFAH
MS4A2, FCER1B
PHF11, NYREN34
IL4R, IL4RA
IL21R
7MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TONRAMP1, NRAMP
SP110, IFI41, IFI75, VODI
IFNGR1
TIRAP
IFNG, IFG, IFI
CCL2, SCYA2, MCP1, MCAF
CD209, CDSIGN
7MITOCHONDRIAL COMPLEX I DEFICIENCYNDUFS2
NDUFS1
NDUFS6
NDUFS4, AQDQ
MMTN, B17.2L
NDUFV1, UQOR1
NDUFA1, MWFE
7HPSHPS3
DTNBP1, HPS7
HPS1
HPS6, RU
HPS5, RU2, KIAA1017
BLOC1S3, BLOS3, HPS8
HPS4
7THYROID CARCINOMA, PAPILLARYTIF1G, 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
7OSTEOPOROSISRIL
IL6, IFNB2, BSF2
CALCR, CRT
COL1A2
LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4
VDR
COL1A1
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
6BMIBMIQ3
BMIQ1
BMIQ4
BMIQ2
BMIQ5
BMIQ6
6EIGCACNB4, EJM, EA5
OPRM1
EIG1
EIG3
EIG2
ME2
6AUTONOMIC CONTROL, CONGENITAL FAILURE OFPMX2B, NBPHOX, PHOX2B
GDNF
RET, MEN2A
BDNF
ASCL1, ASH1
EDN3
6CMHCAV3, LGMD1C
TNNC1
MYH6, ASD3, MYHCA
MYH7, CMH1, MPD1, CMD1S
ACTC1, CMD1R
MYLK2, MLCK
6HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANTAPOA2
ITIH4, PK120, ITIHL1
GSBS
EPHX2
ABCA1, ABC1, HDLDT1, TGD
LDLR, FHC, FH
6ESOPHAGEAL CANCERTGFBR2, HNPCC6, AAT3, MFS2
DLEC1, DLC1
LZTS1, F37, FEZ1
DEC1
RNF6
WWOX, FOR
5MDDFKBP5, FKBP51
TPH2, NTPH
MDD1
HTR2A
MDD2
5VWMEIF2B3
EIF2B4
EIF2B5, LVWM, CACH, CLE
EIF2B1, EIF2BA
EIF2B2
5ARMD1HMCN1, FBLN6, FIBL6, ARMD1
C2
CFB, BF, GBG
PLEKHA1, TAPP1
APOE, AD2
5RPUSH2A, RP39
MERTK, RP38
RLBP1
CNGB1, CNCG3L, CNCG2
CRX, CORD2, CRD, LCA7
5WWSFKTN, FCMD
POMT1
POMT2
FKRP, MDC1C, LGMD2I
LARGE, KIAA0609, MDC1D
5EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPELAMC2, LAMNB2, LAMB2T
LAMB3
COL17A1, BPAG2
ITGB4
LAMA3, LOCS
5IDDMPTPN22, PEP, PTPN8, LYP
ITPR3
OAS1, OIAS
TCF1, HNF1A, MODY3
FOXP3, IPEX, AIID, XPID, PIDX
5ATYPICAL MYCOBACTERIOSIS, FAMILIALSTAT1
IL12B, NKSF2
IFNGR1
IL12RB1
IFNGR2, IFNGT1, IFGR2
5ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORMPEX10, NALD
PEX13, ZWS, NALD
PEX1, ZWS1
PEX5, PXR1, PTS1R
PEX26
5PHEOCHROMOCYTOMASDHB, SDH1, SDHIP, PGL4
VHL
GDNF
RET, MEN2A
SDHD, PGL1
5LONGEVITYYTHDF2
LGV1
TLR4, ARMD10
CETP, HDLCQ10
AKAP10
5RCC1OGG1
VHL
DIRC2, RCC4
RNF139, TRC8, RCA1, HRCA1
FLCN, BHD
5HSCR1PMX2B, NBPHOX, PHOX2B
GDNF
RET, MEN2A
EDN3
L1CAM, CAML1, HSAS1
5MSPTPRC, CD45, LCA
HLA-DQB1, CELIAC1
HLA-DR1B
CD24
MHC2TA, C2TA
5ALS1DCTN1, HMN7B
PRPH
ANG, RNASE5
SOD1, ALS1
NEFH
4MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCYMUSK
RAPSN, CMS1D, CMS1E
CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D
CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D
4COENZYME Q10 DEFICIENCYCOQ2
PDSS2, DLP1, C6orf210
APTX, AOA, AOA1
PDSS1, TPT, COQ1
4OVARIAN CANCER, EPITHELIALPIK3CA
PRKN, PARK2, PDJ, LPRS2
OPCML
AKT1
4SHORT STATURE, IDIOPATHIC, AUTOSOMALGHSR
GH1, GHN
SHOX, GCFX, SS, PHOG
SHOXY
4GEFS+SCN2A1, SCN2A
SCN1A, GEFSP2, SMEI, FEB3
GABRG2, GEFSP3, CAE2, ECA2
SCN1B, GEFSP1
4IDDCOL9A2, EDM2
COL11A1, STL2
CILP
COL9A3, EDM3, IDD
4DERMATITIS, ATOPICFLG
ATOD6
ATPD5
ATOD3
4SCCMSCHRNA1, ACHRD, CMS2A, SCCMS, FCCMS
CHRND, ACHRD, SCCMS, CMS2A, FCCMS
CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D
CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D
4GRAVES DISEASECTLA4, IDDM12, CELIAC3
GC, DBP
GRD2
GRDX, GD3
4RTDREN
AGT, SERPINA8
AGTR1, AGTR1A, AT2R1
ACE, DCP1, ACE1
4PANCREATIC CARCINOMAARMET, ARP
KRAS2, RASK2, NS3
BRCA2, FANCD1
TP53, P53, LFS1
4MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORMMPV17
DGUOK, DGK
SUCLA2
TK2
4MAPLE SYRUP URINE DISEASEDBT, BCATE2
BCKDHB, E1B
DLD, LAD, PHE3
BCKDHA, MSUD1
4BARE LYMPHOCYTE SYNDROME, TYPE IIRFX5
RFXAP
MHC2TA, C2TA
RFXANK
4TOBACCO ADDICTION, SUSCEPTIBILITY TOSLC6A3, DAT1
GPR51, GABBR2
CYP2A6, CYP2A3, CYP2A, P450C2A
CHRNA4, ENFL1
4FTCNRAS
MINPP1, HIPER1
PTEN, MMAC1
HRAS
4TETRALOGY OF FALLOTNKX2E, CSX
ZFPM2, FOG2, DIH3
GDF1
JAG1, AGS, AHD
4OS1FRZB, FRZB1, SRFP3
ASPN, PLAP1
COL2A1
GDF5, CDMP1, SYNS2
4MDBPTCH2
PTCH1, NBCCS, BCNS, HPE7
SUFU, SUFUXL, SUFUH
DMBT1
4CLLCCND1, PRAD1, BCL1
P2RX7, P2X7
ARL11, ARLTS1
MIRN16-1, MIR16-1
4HYPEREKPLEXIA, HEREDITARYGLRB
GLRA1, STHE
SLC6A5, GLYT2
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
KCNQ10T1, LIT1
4BLADDER CANCERFGFR3, ACH
HRAS
KRAS2, RASK2, NS3
RB1
3SHEP7SLC45A2, MATP, AIM1
TYR
SLC24A5, NCKX5
3ABDOMINAL BODY FAT DISTRIBUTIONPOMC
PPARG, PPARG1, PPARG2
PTPN1, PTP1B
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
3MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1LRP8, APOER2, MCI1
TNFSF4, GP34, OX4OL
ESR1, ESR
3JMMLARHGAP26, GRAF
PTPN11, PTP2C, SHP2, NS1
NF1, VRNF, WSS, NFNS
3FHCAEPHX1
TJP2, ZO2
BAAT
3MENINGIOMA, FAMILIALPTEN, MMAC1
NF2
MN1, MGCR
3JMECACNB4, EJM, EA5
CLCN2, EGMA, ECA3, EGI3
GABRA1, EJM, ECA4
3PARAGANGLIOMA AND GASTRIC STROMAL SARCOMASDHB, SDH1, SDHIP, PGL4
SDHC, PGL3
SDHD, PGL1
3PNDMGCK, HHF3
ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2
KCNJ11, BIR, PHHI, HHF2, TNDM3
3GCEAMT, NKH, GCE
GLDC, HYGN1, GCSP, GCE, NKH
GCSH, NKH
3RENAL CELL CARCINOMA, PAPILLARYPRCC, RCCP1
MET, AUTS9
TFE3
3BARE LYMPHOCYTE SYNDROME, TYPE ITAP1, ABCB2, TAP1, RING4, PSF1
TAP2, ABCB3, PSF2, RING11
TAPBP, TPSN
3OMENN SYNDROMEDCLRE1C, ARTEMIS, SCIDA
RAG1
RAG2
3BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESSCLCNKA
CLCNKB
BSND
3PDBPDB4
SQSTM1, P62, PDB3
TNFRSF11A, RANK, ODFR, OFE
3DA2BTNNI2, AMCD2B, DA2B, FSSV
TNNT3, AMCD2B, DA2B, FSSV
MYH3
3TTDPERCC3, XPB
TGF2H5, TTDA, TFB5, C6orf175
ERCC2, EM9, XPD, COFS2
3NEURAL TUBE DEFECTS, FOLATE-SENSITIVEMTR
MTRR
MTHFD, MTHFC
3AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL RECESSIVELRRC8, KIAA1437
IGHM, MU
IGLL1, IGO, IGL5, VPREB2
3STROKE, ISCHEMICNOS3
ALOX5AP, FLAP
PRKCH, PKCL, PRKCL
3WAARDENBURG-SHAH SYNDROMEEDNRB, HSCR2, ABCDS
EDN3
SOX10, WS4, WS2E
3MISMATCH REPAIR CANCER SYNDROMEMLH1, COCA2, HNPCC2
APC, GS, FPC
PMS2, PMSL2, HNPCC4
3RMS2PAX7
PAX3, WS1, HUP2, CDHS
FOXO1A, FKHR
3REFSUM DISEASE, INFANTILE FORMPEX1, ZWS1
PXMP3, PAF1, PMP35, PEX2
PEX26
3PXEABCC6, ARA, ABC34, MLP1, PXE
XYLT1, XT1
XYLT2, XT2
3PHA1SCNN1A
SCNN1B
SCNN1G, PHA1
3OSTEOGENIC SARCOMARB1
LOH18CR1, OSTS
CHEK2, RAD53, CHK2, CDS1, LFS2
3UCMDCOL6A3
COL6A1, OPLL
COL6A2
3MOLYBDENUM COFACTOR DEFICIENCYMOCS2, MPTS
MOCS1, MOCOD
GPH, KIAA1385, GEPH
3MCPH1MCPH1
MCPH4
MCPH2
3CILD1DNAH5, HL1, PCD, CILD3
DNAH11, DNAHC11
DNAI1, CILD1, ICS, PCD
3NCIE1TGM1, ICR2, LI1
ALOX12B
ALOXE3
3MADDETFDH, MADD
ETFA, GA2, MADD
ETFB, MADD
3GIANT PLATELET SYNDROMEGP9
GP1BA
GP1BB
3EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPELAMC2, LAMNB2, LAMB2T
LAMB3
LAMA3, LOCS
3CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ILOX
EFEMP2, FBLN4, UPH1
FBLN5, ARMD3
3CTHMCFC1, CRYPTIC, HTX2
GDF1
TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR
3HFTCGALNT3, HHS, HFTC
FGF23, ADHR, HPDR2, PHPTC
KL
3WT1WT1
BRCA2, FANCD1
GPC3, SDYS, SGBS1
3TSTSC1, LAM
IFNG, IFG, IFI
TSC2, LAM
3THROMBOCYTHEMIA, ESSENTIALMPL, TPOR, MPLV
THPO, MGDF, MPLLG, TPO
JAK2
3NEURAL TUBE DEFECTSVANGL1, STBM2
T, TFT
CCL2, SCYA2, MCP1, MCAF
3PULMONARY FIBROSIS, IDIOPATHICELMOD2
TERT, TCS1, EST2
SFTPA1, SFTP1
3JPSBMPR1A, ACVRLK3, ALK3
PTEN, MMAC1
MADH4, DPC4, SMAD4, JIP
3HOKPPCACNA1S, CACNL1A3, CCHL1A3
KCNE3, HOKPP
SCN4A, HYPP, NAC1A
3OCD1BDNF
HTR2A
SLC6A4, HTT, OCD1
3IGAN1SELE, ELAM1
SELL, LYAM1, LAM1, LNHR
PIGR
3NEM3TPM3, NEM1
ACTA1, ASMA, NEM3, NEM1, CFTD1
TPM2, TMSB, AMCD1, DA1
3NRCLP1NRCLP2
HCRT, OX
NLC1A
3MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANTMTMR14, C3orf29, HJUMPY
MYF6
DNM2, CMTDIB, CMTDI1
3BETHLEM MYOPATHYCOL6A3
COL6A1, OPLL
COL6A2
3MONILETHRIXKRTHB1, HB1
KRTHB3, HB3
KRTHB6, HB6
3MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1EDNRA
TNF, TNFA
ESR1, ESR
3LADDFGFR3, ACH
FGF10
FGFR2, BEK, CFD1, JWS
3FIHCASR, HHC1, PCAR1, FIH
GCMB
PTH
3HYPERTRIGLYCERIDEMIA, FAMILIALRP1, ORP1
APOA5
LIPI, LPDL, PRED5
3POAGCYP1B1, GLC3A
GLC1B
OPTN, GLC1E, FIP2, HYPL, NRP
3GLC1AMYOC, TIGR, GLC1A, JOAG, GPOA
CYP1B1, GLC3A
LMX1B, NPS1
3FUNDUS ALBIPUNCTATUSRDS, RP7, PRPH2, PRPH, AVMD, AOFMD
RDH5
RLBP1
3EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPEKRT5, DDD
ITGB4
KRT14
3EHLERS-DANLOS SYNDROME, TYPE ICOL5A2
COL5A1
COL1A1
3COUMARIN RESISTANCECYP2C9
VKORC1, VKOR, VKCFD2, FLJ00289
CYP2A6, CYP2A3, CYP2A, P450C2A
3COLOBOMA, OCULARSHH, HPE3, HLP3, SMMCI, MCOPCB5
GDF6, CDMP2
PAX6, AN2, MGDA
3ALCOHOL DEPENDENCEGABRA2
ADH1B, ADH2
HTR2A
2MOVED TO 601067CDH23, USH1D, USH1H
PCDH15, DFNB23, USH1H
2IPD1TIRAP
IRAK4, REN64, IPD1
2HEPATITIS B VIRUS, SUSCEPTIBILITY TOCRFB4
IFNAR2
2HEPATITIS C VIRUS, SUSCEPTIBILITY TOPTPRC, CD45, LCA
IFNG, IFG, IFI
2LDS1ATGFBR2, HNPCC6, AAT3, MFS2
TGFBR1, ALK5, AAT5
2SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TOHLA-A
HLA-B, SPDA1
2PERRSRGS9, PERRS
RGS9BP, R9AP, RGS9, PERRS
2AITD3ZFAT1, ZNF406, AITD3
TG, AITD3
2MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSETRDS, RP7, PRPH2, PRPH, AVMD, AOFMD
BEST1, VMD2
2ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSISKRT1
KRT10
2ATFB3KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2
KCNE2, MIRP1, LQT6
2SANDOC10orf2, TWINKLE, PEO1, PEOA3, SANDO
POLG, POLG1, POLGA, PEO, SANDO, SCAE
2SMEISCN1A, GEFSP2, SMEI, FEB3
GABRG2, GEFSP3, CAE2, ECA2
2PULMONARY DISEASE, CHRONIC OBSTRUCTIVEMMP1, CLG
PI, AAT, SERPINA1
2ANON1BDNF
HTR2A
2GISTKIT, PBT
PDGFRA
2LAMTSC1, LAM
TSC2, LAM
2GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TOOPA1, NTG, NPG
OPTN, GLC1E, FIP2, HYPL, NRP
2RMDRMD1
CAV3, LGMD1C
2PROPIONIC ACIDEMIAPCCB
PCCA
2BASAL CELL CARCINOMA, MULTIPLEPTCH2
PTCH1, NBCCS, BCNS, HPE7
2NEUROPATHY, CONGENITAL HYPOMYELINATINGMPZ, CMT1B, CMTDI3, CHM, DSS
EGR2, KROX20
2LYMPHOMA, NON-HODGKIN, FAMILIALCASP10, MCH4, ALPS2
PRF1, HPLH2, FLH2
2CORTISONE REDUCTASE DEFICIENCYH6PD, GDH, G6PDH
HSD11B1, HSD11, HSD11L
2SCZD9RGS4, SCZD9
DISC1, SCZD9
2CPVT1CASQ2
RYR2, VTSIP, ARVD2, ARVC2
2FPLD3PPARG, PPARG1, PPARG2
PPP1R3A, PPP1R3
2CCLCRYGC, CRYG3, CCL
CRYBB2, CRYB2
2CATARACT, AUTOSOMAL DOMINANTBFSP2, CP49, CP47
MIP, AQP0
2HYPOALPHALIPOPROTEINEMIA, PRIMARYABCA1, ABC1, HDLDT1, TGD
APOA1
2OPLLENPP1, PDNP1, NPPS, M6S1, PCA1
COL6A1, OPLL
2JHHJV, HFE2A
HAMP, LEAP1, HEPC, HFE2
2HEMANGIOMA, CAPILLARY INFANTILEKDR
FLT4, VEGFR3, PCL
2DFNA3GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID
GJB6, CX30, DFNA3, HED, ED2
2SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVERAG1
RAG2
2DIABETES MELLITUS, TRANSIENT NEONATAL, 1HYMAI
PLAGL1, ZAC, LOT1
2DFNB12ATP2B2, PMCA2
CDH23, USH1D, USH1H
2NEPPKKRT1
KRT16
2BUDD-CHIARI SYNDROMEF5
JAK2
2SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVEIL7R
CD3D, T3D
2HMN5GARS, SMAD1, CMT2D, HMN5
BSCL2, SPG17, HMN5
2AVSDAVSD1, AVCD
GJA1, CX43, ODDD, SDTY3, ODOD
2FTDPSEN1, AD3
MAPT, MTBT1, DDPAC, MSTD
2HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TOIFNGR1
PTPRZ1, PTP18
2DFNA2GJB3, CX31, DFNA2
KCNQ4, DFNA2
2RTTCDKL5, STK9, ISSX
MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16
2DMDMYF6
DMD, BMD, CMD3B
2EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43
CDKL5, STK9, ISSX
2CBBMOPN1MW, GCP, CBD, CBBM
OPN1LW, RCP, CBP, CBBM
2HYPOSPADIAS, X-LINKEDAR, DHTR, TFM, SBMA, KD, SMAX1
CXorf6, F18
2DENT DISEASE 1CLCN5, CLCK2, NPHL2, DENTS, NPHL1
OCRL, LOCR, OCRL1, NPHL2
2WRNLMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
RECQL2, RECQ3, WRN
2HNSCCTNFRSF10B, DR5, TRAILR2
ING1
2TIGHT SKIN CONTRACTURE SYNDROME, LETHALZMPSTE24, FACE1, STE24, MADB
LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
2TESTICULAR TUMORSKIT, PBT
STK11, PJS, LKB1
2REFSUM DISEASEPEX7, RCDP1
PHYH, PAHX
2PMDSAMHR2, AMHR
AMH, MIF
2D-BIFUNCTIONAL PROTEIN DEFICIENCYACAA1
HSD17B4
2MEGALOBLASTIC ANEMIA 1CUBN, IFCR, MGA1
AMN
2OSTEOGENESIS IMPERFECTA, TYPE IIICOL1A2
COL1A1
2OGUCHI DISEASESAG
GRK1, RHOK, RK
2NEUROBLASTOMAPMX2B, NBPHOX, PHOX2B
NME1, NM23
2MYOCLONIC EPILEPSY OF LAFORANHLRC1, EPM2A, EPM2B
EPM2A, MELF, EPM2
2MYELOMA, MULTIPLECCND1, PRAD1, BCL1
LIG4
2MEBPOMGNT1, MEB
FKRP, MDC1C, LGMD2I
2LANGER MESOMELIC DYSPLASIASHOX, GCFX, SS, PHOG
SHOXY
2STGD1ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2
CNGB3, ACHM3
2aHUSHF1, CFH, HUS, ARMD4
MCP, CD46
2GLYCOGEN STORAGE DISEASE IcSLC17A3, NPT4
G6PT1
2FRDAFRDA2
FXN, FRDA, FARR, X25
2F5F8DMCFD2
LMAN1, ERGIC53, F5F8D, MCFD1
2EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIAITGA6
ITGB4
2EVEVER1, EV1
EVER2, EV2
2EVCEVC
LBN, EVC2
2ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVEEDARADD, ED3, EDA3
EDAR, DL, ED3, EDA3
2LACTASE PERSISTENCELCT, LAC, LPH
MCM6
2PLOSLTREM2
TYROBP, PLOSL, DAP12
2JLNS1KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2
KCNE1, JLNS, LQT5
2DWSZIC4
ZIC1
2CFCFTR, ABCC7, CF, MRP7
TGFB1, DPD1, CED
2CRYPTORCHIDISM, UNILATERAL OR BILATERALLGR8, GREAT
INSL3
2FRASER SYNDROMEFRAS1
FREM2
2COSTELLO SYNDROMEHRAS
KRAS2, RASK2, NS3
2CIRRHOSIS, FAMILIALKRT8
KRT18
2OSMEDCOL11A2, STL3, DFNA13
COL2A1
2CHARGE SYNDROMESEMA3E, SEMAH, KIAA0331
CHD7, IS3
2CDHLA-DQA1, CELIAC1
HLA-DQB1, CELIAC1
2SITOSTEROLEMIAABCG5
ABCG8
2ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCEPTGER2
TBX21, TBET
2AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPEMMP20
KLK4, EMSP1, PRSS17
2ALPORT SYNDROME, AUTOSOMAL RECESSIVECOL4A3
COL4A4
2ALEXANDER DISEASENDUFV1, UQOR1
GFAP
2OCA2OCA2, P, PED, D15S12, BOCA, EYCL3
MC1R
2SCN1GFI1, ZNF163
ELA2
2AFIBRINOGENEMIA, CONGENITALFGA
FGB
2ADCCMTACR1, WT2
TP53, P53, LFS1
2LIPOID CONGENITAL ADRENAL HYPERPLASIASTAR
CYP11A, P450SCC
2ACTH DEFICIENCYTBS19
CRH
2WBSGTF2I, BAP135, WBS
GTF2IRD1, GTF3, MUSTRD1, WBS
2WHITE SPONGE NEVUS OF CANNONKRT4, CYK4
KRT13
2VHLVHL
CCND1, PRAD1, BCL1
2DOWN SYNDROMEMTR
GATA1, GF1, ERYF1, NFE1
2PEE1EPHX1
NOS3
2SYM1NOG, SYM1, SYNS1
GDF5, CDMP1, SYNS2
2SS1BTNL2
HLA-DR1B
2RSTSCREBBP, CBP, RSTS
EP300
2ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIAMPZ, CMT1B, CMTDI3, CHM, DSS
PMP22, CMT1A, CMT1E, DSS
2LIDDLE SYNDROMESCNN1B
SCNN1G, PHA1
2PWSNDN
SNRPN
2PORPHYRIA VARIEGATAPPOX
HFE, HLA-H, HFE1
2PCLDSEC63
PRKCSH, G19P1, PCLD
2PICK DISEASE OF BRAINPSEN1, AD3
MAPT, MTBT1, DDPAC, MSTD
2PCTTSPINK1, PSTI, PCTT, TATI
PRSS1, TRY1
2PC2KRT6B, PC2
KRT17, PC2, PCHC1
2PC1KRT6A
KRT16
2OSTEOGENESIS IMPERFECTA, TYPE IIACOL1A2
COL1A1
2OSTEOGENESIS IMPERFECTA, TYPE ICOL1A2
COL1A1
2NASOPHARYNGEAL CARCINOMANPC1, NPCA1
TP53, P53, LFS1
2MYOCLONIC DYSTONIASGCE, DYT11
DRD2
2MTSMSH2, COCA1, FCC1, HNPCC1
MLH1, COCA2, HNPCC2
2PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1SLC25A4, ANT1, T1, PEO3
POLG, POLG1, POLGA, PEO, SANDO, SCAE
2MTCNTRK1, TRKA, MTC
RET, MEN2A
2FPLD2LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
PPARG, PPARG1, PPARG2
2LFS1CDKN2A, MTS1, P16, MLM, CMM2
TP53, P53, LFS1
2KERATOSIS PALMOPLANTARIS STRIATA IKRT1
DSG1
2HYPOGONADOTROPIC HYPOGONADISMNELF
GPR54
2PHA2WNK1, PRKWNK1, KDP, PHA2C
WNK4, PRKWNK4, PHA2B
2HRPT1HRPT2, C1orf28
MEN1
2EPPKKRT9, EPPK
KRT16
2HBFQTL1HBG1
HBG2
2GINGFSOS1, GINGF, GF1, HGF, NS4
GINGF2, GGF2, HGF2
2EKVGJB3, CX31, DFNA2
GJB4, CX30.3
2PILOMATRIXOMAMUTYH, MYH
CTNNB1
2EBS2KRT5, DDD
KRT14
2EPIDERMOLYSIS BULLOSA HERPETIFORMIS, 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
2DLBSNCA, NACP, PARK1, PARK4
SNCB
2DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANTTERC, TRC3, TR
TERT, TCS1, EST2
2LWDSHOX, GCFX, SS, PHOG
SHOXY
2MODY1INS
HNF4A, TCF14, MODY1
2MITOCHONDRIAL COMPLEX III DEFICIENCYBCS1L, FLNMS, GRACILE, BJS, PTD
UQCRB, UQBP, QPC
2CUTIS LAXA, AUTOSOMAL DOMINANTELN
FBLN5, ARMD3
2CJDHLA-DQB1, CELIAC1
PRNP, PRIP
2JWSFGFR1, FLT2, KAL2
FGFR2, BEK, CFD1, JWS
2CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANNKRT3
KRT12
2PPCD1COL8A2, FECD, PPCD2
VSX1, RINX, PPCD, PPD, KTCN
2CMD1ALMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
MYBPC3, CMH4
2CAFE-AU-LAIT SPOTS, MULTIPLEMSH2, COCA1, FCC1, HNPCC1
MLH1, COCA2, HNPCC2
2PFHB1ASCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2
HB1, PFHB1B, HBN1
2BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQKRT1
KRT10
2BDA2BMPR1B, ALK6
GDF5, CDMP1, SYNS2
2BDA1IHH, BDA1
BDA1B
2BLOOD GROUP, P SYSTEMB3GALT3, GLCT3, P
A4GALT, PK
2ASMDFOXE3, FKHL12, ASMD
PITX3, CTPP4
2STHAG1MSX1, HOX7, HYD1, OFC5
PAX9
2SPDA1HLA-A
HLA-B, SPDA1
2ASUBE3A, ANCR
MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16
2DBADBA2
RPS19, DBA
2AMYLOIDOSIS, FAMILIAL VISCERALFGA
LYZ
2ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESSMITF, WS2A
TYR
2GLOBOZOOSPERMIASPATA16
GOPC, PIST, FIG, CAL
2PITUITARY ADENOMA, GROWTH HORMONE-SECRETINGSSTR5
GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO
2PFEIFFER SYNDROMEFGFR1, FLT2, KAL2
FGFR2, BEK, CFD1, JWS
2SCSTWIST, ACS3, SCS
FGFR2, BEK, CFD1, JWS
1MCOPCB5SHH, HPE3, HLP3, SMMCI, MCOPCB5
1LIS3TUBA1A, TUBA3, LIS3
1RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIASLC4A1, AE1, EPB3
1WS2ESOX10, WS4, WS2E
1GLYCOGEN STORAGE DISEASE 0, MUSCLEGYS1, GYS
1LEOPARD SYNDROME 2RAF1, CRAF, NS5
1NS5RAF1, CRAF, NS5
1POF5NOBOX, POF5
1STQTL9HMGA2, HMGIC, BABL, LIPO, STQTL9
1CATCN3CRYBB1, CATCN3
1ARVD12JUP, DP3, PDGB, ARVD12
1PCH6RARS2, RARSL, PCH6
1NPHP7GLIS2, NPHP7
1OPTB6PLEKHM1, AP162, KIAA0356, OPTB6
1OPTB4CLCN7, CLC7, OPTA2, OPTB4
1CORTICOSTEROID-BINDING GLOBULIN DEFICIENCYCBG, SERPINA6
1ARMD10TLR4, ARMD10
1NFLSSPRED1, NFLS
1CMD1WVCL, CMD1W
1CATARACT, CORTICAL, JUVENILE-ONSETBFSP1, CP115
1USH2DWHRN, CIP98, KIAA1526, DFNB31, USH2D
1ARMD9C3, ARMD9
1LCCS3PIP5K1C, LCCS3
1ASD4TBX20, ASD4
1ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCYACAD8
1FEB8GABRG2, GEFSP3, CAE2, ECA2
1ATD2IFT80, KIAA1374, WDR56, ATD2
1CMT4JFIG4, KIAA0274, SAC3
1CDG2GCOG1, LDLB, KIAA1381, CDG2G
1CDG2HCOG8, DOR1
1ECA4GABRA1, EJM, ECA4
1MKS4CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10
1RETINITIS PIGMENTOSA 37NR2E3, PNR, ESCS
1ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OFACAD9
1LBSLDARS2, ASPRS. LBSL
1MRT6GRIK2, GLUR6, MRT6
1PMSELYK5, PMSE
1IBD10ATG16L1, APG16L, IBD10
1DSMA4PLEKHG5, KIAA0720, DSMA4
1ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5IRAK3, IRAKM, ASRT5
1DFNB24RDX, DFNB24
1AUTS10EN2, AUTS10
1AUTS9MET, AUTS9
1HYT8MEX3C, RKHD2
1PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCYPSAT1, PSAT, EPIP
1CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESSTITF1, 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
1SMDP2SFTPC, SFTP2, SMDP2
1AGS5TREX1, AGS1, AGS5, CRV, HERNS
1BOR2SIX5, DMAHP, BOR2
1VUR2ROBO2, SAX3, KIAA1568
1OSTEOGENESIS IMPERFECTA, TYPE IIBCRTAP, CASP
1CILIARY DYSKINESIA, PRIMARY, 6TXNDC3, SPTRX2, CILD6
1PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCYGGCX
1FANCONI ANEMIA, COMPLEMENTATION GROUP NPALB2, FANCN
1HPE9GLI2, HPE9
1HPE7PTCH1, NBCCS, BCNS, HPE7
1IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEINMAPBPIP, p14
1MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCYSLC25A3, PHC
1CDG1MTMEM15, DK1, SEC59, KIAA1094
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
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
1ARMD4HF1, CFH, HUS, ARMD4
1JBTS6TMEM67, MKS3, JBTS6
1NEM7CFL2, NEM7
1OSTEOGENESIS IMPERFECTA, TYPE VIICRTAP, CASP
1COXPD4TUFM, EFTU, COXPD4
1AUTS7AUTS7
1XPBERCC3, XPB
1DIAMOND-BLACKFAN ANEMIA 3RPS24, DBA3
1KAL4PROK2, PK2, BV8, KAL4
1CTPP4PITX3, CTPP4
1HAE IIIF12, HAF, HAE3
1LCA12C1orf36, RD3, LCA12
1CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCYCYP11B2
1RP36PRCD, RP36
1DIABETES MELLITUS, TRANSIENT NEONATAL, 3KCNJ11, BIR, PHHI, HHF2, TNDM3
1HERPES SIMPLEX ENCEPHALITIS, UNC93B-DEFICIENTUNC93B1
1DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANSINSR, HHF5
1GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCYPSAP, SAP1
1LEUKODYSTROPHY, HYPOMYELINATING, 5FAM126A, DRCTNNB1A
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, AGS5, CRV, HERNS
1TESTICULAR MICROLITHIASISSLC34A2
1CSNB2BCABP4, CSNB2B
1MICROPHTHALMIA, ISOLATED, WITH CATARACT 4CRYBA4
1CATARACT, LAMELLAR 2CRYBA4
1CORD11RAXL1, QRX, CORD11, ARMD6
1LDS2BTGFBR1, ALK5, AAT5
1WEST NILE VIRUS, SUSCEPTIBILITY TOCMKBR5, CCCKR5
1DIABETES MELLITUS, TRANSIENT NEONATAL, 2ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2
1EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4CHRNA2
1AGS4RNASEH2A, RNHIA, AGS4
1AGS3RNASEH2C, AYP1, FLJ20974
1CISS2CLCF1, BSF3, CLC
1PARK13HTRA2, OMI, PARK13, PRSS25
1GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCYPIGM
1CORD10SEMA4A, SEMB, RP35, CORD10
1RP35SEMA4A, SEMB, RP35, CORD10
1DFNB67TBX6, DFNB67
1APHAKIA, CONGENITAL PRIMARYFOXE3, FKHL12, ASMD
1CHROMOSOME 9q34.3 DELETION SYNDROMEEHMT1, EUHMTASE1
1SPG31REEP1, C2ORF23, SPG31
1ESOPHAGITIS, EOSINOPHILICCCL26, SCYA26
1SPG33ZFYVE27, SPG33
1HHSGALNT3, HHS, HFTC
1SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTSZNF750, FLJ13841
1DFNB59PJVK, DFNB59
1NBIA2PLA2G6, IPLA2, INAD1
1ALGS2NOTCH2, AGS2
1CATARACT, PULVERULENT, JUVENILE-ONSETMAF
1DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISMGLIS3, ZNF515
13-@METHYLGLUTACONIC ACIDURIA, TYPE VDNAJC19, TIM14
1ARVD10DSG2, ARVD10, ARVC10
1SLSN6CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10
1JBTS5CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10
1DIAPHRAGMATIC HERNIA 3ZFPM2, FOG2, DIH3
1LDS1BTGFBR1, ALK5, AAT5
1IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETACD247, CD3Z, TCRZ
1IDDM19IFIH1, MDA5, IDDM19
1DFNB49MARVELD2, MARVD2, TRIC, DFNB49
1ARMD7HTRA1, PRSS11, ARMD7
1QT INTERVAL, VARIATION INNOS1AP, CAPON, KIAA0464
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
1CSCDDCN, CSCD
1CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROMECNTNAP2, CASPR2, NRXN4, CDFE
1RCD3APDE6H, RCD3
1SYNS2GDF5, CDMP1, SYNS2
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 3KRAS2, RASK2, NS3
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, HNFJ, 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
1SCDO3LFNG, SCDO3
1MODY8CEL, BSSL, CELL, MODY8
1PEELING SKIN SYNDROME, ACRAL TYPETGM6, TGX
1CELIAC3CTLA4, IDDM12, CELIAC3
1CELIAC4MYO9B, MYR5, CELIAC4
1CATCN2CRYBB3, CRYB3, CATCN2
1THYROID HORMONE METABOLISM, ABNORMALSECISBP2, SBP2
1EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTICDSP, KPPS2, PPKS2
1HPE5ZIC2, HPE5
1FHM3SCN1A, GEFSP2, SMEI, FEB3
1SQT3KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3
1SQT2KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2
1SQT1KCNH2, LQT2, HERG, SQT1
1PFM2ALX4, PFM2, FPP
1JBTS4NPHP1, NPH1, SLSN1, JBTS4
1DFNB23PCDH15, DFNB23, USH1H
1IGAD2TNFRSF13B, TACI, CVID
1CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROMESNAP29, CEDNIK
1SARCOIDOSIS, EARLY-ONSETNOD2, CARD15, IBD1, CD, ACUG, PSORAS1
1GOLDBERG-SHPRINTZEN MEGACOLON SYNDROMEKIAA1279
1MYOPATHY, MYOFIBRILLAR, ZASP-RELATEDLDB3, ZASP, CYPHER, KIAA01613
1GEPDKCNMA1, SLO
1CMT4HFGD4, FRABIN
1HNPCC2MLH1, COCA2, HNPCC2
1LGMD2KPOMT1
1SCA27FGF14, FHF4, SCA27
1EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3SLC25A22, GC1
1PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3C10orf2, TWINKLE, PEO1, PEOA3, SANDO
1LFS2CHEK2, RAD53, CHK2, CDS1, LFS2
1CMT2A2MFN2, KIAA0214, CMT2A2
1SLSN5IQCB1, NPHP5, KIAA0036
1KANZAKI DISEASENAGA
1SCHINDLER DISEASE, TYPE INAGA
1GS3MLPH
1BRUCK SYNDROME 2PLOD2
1MYOTILINOPATHYTTID, MYOT
1CDG1FMPDU1, SL15, CDGIF
1HYPERTHYROIDISM, NONAUTOIMMUNETSHR
1PPCD3TCF8, PPCD3
1PCWHSOX10, WS4, WS2E
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
1PIERSON SYNDROMELAMB2, LAMS
1CMM3CDK4, CMM3
1ARVD9PKP2, ARVD9
1DFNB36ESPN
1POF3FOXL2, BPES, BPES1, PFRK, POF3
1CCA3CRYGD, CRYG4, CCP
1LDS2ATGFBR2, HNPCC6, AAT3, MFS2
1CD8 DEFICIENCY, FAMILIALCD8A
1FHL3UNC13D, MUNC13-4, HPLH3, HLH3, FHL3
1ARMD3FBLN5, ARMD3
1WAARDENBURG SYNDROME, TYPE IIDSNAI2, SLUG, WS2D
1OROFACIAL CLEFT 5MSX1, HOX7, HYD1, OFC5
1OROFACIAL CLEFT 6, SUSCEPTIBILITY TOIRF6, VWS, LPS, PIT, PPS, OFC6
1MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1DLARGE, KIAA0609, MDC1D
1CARNEY COMPLEX VARIANTMYH8
1CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATALCPT2
1ALPHA-B CRYSTALLINOPATHYCRYAB, CRYA2, CTPP2
1DTGA1THRAP2, PROSIT240, TRAP240L, KIAA1025
1LGMD2JTTN, CMD1G, TMD, LGMD2J, MPRM, HMERF
1AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARYCOL2A1
1LEUKODYSTROPHY, HYPOMYELINATING, 2GJC2, GJA12, CX47, PMLDAR
1SIDDTTSPYL1, TSPYL, SIDDT
1CDG1EDPM1, MPDS, CDGIE
1PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCYPPM2C, PDP1, PDPC
1CDG2ECOG7, CDG2E
1CDG1LALG9, DIBD1
1SCA8SCA8
1IS3CHD7, IS3
1CMH10MYL2, CMH10
1CMH8MYL3, CMH8
1INSULIN-LIKE GROWTH FACTOR I DEFICIENCYIGF1
1SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATEDMATN3, EDM5, HOA
1MCPH5ASPM, MCPH5
1BARRAQUER-SIMONS SYNDROMELMNB2, LMN2
1AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OFATIC, PURH, AICAR
1SCDO2MESP2, SCDO2
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2LHSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A
1HSAN5NGFB, HSAN5
1CILIARY DYSKINESIA, PRIMARY, 3DNAH5, HL1, PCD, CILD3
1AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCYDDC
1DFNA28TFCP2L3, DFNA28
1SPONDYLOEPIPHYSEAL DYSPLASIA, CHST3-RELATEDCHST3, C6ST, C6ST1
1HMN2BHSPB1, HSP27, CMT2F, HMN2B
1JBTS3AHI1
1ALS8VAPB, VAPC, ALS8
1MOVED TO 276300PMS2, PMSL2, HNPCC4
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, 2GPR154, GPRA, VRR1, PGR14, ASRT2
1CMD1OABCC9, SUR2, CMD1O
1SSS1SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2
1MOVED TO 204650ENAM, AIH2
1LEGIONNAIRE DISEASE, SUSCEPTIBILITY TOTLR5, TIL3, SLEB1
1CDG1KALG1, HMAT1, HMT1
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
1KARAK SYNDROMEPLA2G6, IPLA2, INAD1
1MCPH6CEMPJ, CPAP, MCPH6
1MYOTONIA, POTASSIUM-AGGRAVATEDSCN4A, HYPP, NAC1A
1BOS3SIX1, BOS3, DFNA23
1RP26CERKL
1SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPEAGC1, CSPG1, MSK16, SEDK
1MYOPATHY, MYOSIN STORAGEMYH7, CMH1, MPD1, CMD1S
1PARKES WEBER SYNDROMERASA1, GAP, CMAVM, PKWS
1CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATIONRASA1, GAP, CMAVM, PKWS
1WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANTFBN1, MFS1, WMS
1CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE CYARS, CMTDIC, TYRRS, YTS, YRS
1ADCAD1MEF2A, ADCAD1
1PARATHYROID CARCINOMAHRPT2, C1orf28
1SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANTARHGEF10, KIAA0294
1HPS2AP3B1, ADTB3A, HPS2
1CMLBCR, CML, PHL, ALL
1NEUTROPHIL IMMUNODEFICIENCY SYNDROMERAC2
1CORD9RPGRIP1, LCA6, CORD9
1TROPICAL CALCIFIC PANCREATITISSPINK1, PSTI, PCTT, TATI
1SPD2FBLN1
1RP7RDS, RP7, PRPH2, PRPH, AVMD, AOFMD
1OVARIAN HYPERSTIMULATION SYNDROMEFSHR, ODG1
1IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5UNG, DGU, HIGM4
1CDG1HALG8
1LGMD2DSGCA, ADL, DAG2, LGMD2D, DMDA2
1HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVEARFGEF2, BIG2
1CDG1JDPAGT2, DGPT
1LDHCPLMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1ETFAFANCI, KIAA1794
1GAUCHER DISEASE, PERINATAL LETHALGBA
1ASD2GATA4
1RP30FSCN2, RFSN
1CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHYLMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1CDG1IALG2, CDGII
1LAHDSG4, LAH
1CAUDAL DUPLICATION ANOMALYAXIN1, AXIN
1MDC1ALAMA2, LAMM
1OS3MATN3, EDM5, HOA
1NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTSGFI1, ZNF163
1DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1AMYO1A, DFNA48
1AIS1FOXD3, AIS1
1NEUROTICISMSLC6A4, HTT, OCD1
1FSGS3CD2AP, CMS
1CMT2KGDAP1, CMT4A, CMT2K, CMT2G
1HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROMESOX18, HLTS
1ALZHEIMER DISEASE 3PSEN1, AD3
1DFNB37MYO6, DFNA22, DFNB37
1CLSDSEC23A, CLSD
1LGMD1CCAV3, LGMD1C
1CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE DMPZ, CMT1B, CMTDI3, CHM, DSS
1ACFDIHH, BDA1
1BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1HSD3B7, PFIC4
1SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILESCN2A1, SCN2A
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JMPZ, CMT1B, CMTDI3, CHM, DSS
1CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1FNEFL, CMT2E, CMT1F
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVEGDAP1, CMT4A, CMT2K, CMT2G
1ANDERSON DISEASESARA2, SAR1B, CMRD
1HESPDGFRA
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2ENEFL, CMT2E, CMT1F
1EPILEPSY, CHILDHOOD ABSENCE, 3CLCN2, EGMA, ECA3, EGI3
1EPILEPSY, CHILDHOOD ABSENCE, 2GABRG2, 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
1KERATOSIS PALMOPLANTARIS STRIATA IIIKRT1
1HMN7BDCTN1, HMN7B
1VAN BUCHEM DISEASE, TYPE 2LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4
1OPTA1LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4
1JAECLCN2, EGMA, ECA3, EGI3
1EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENINGCLCN2, EGMA, ECA3, EGI3
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
1BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGECOL4A1
1ICOS DEFICIENCYICOS, AILIM
1LEPROSY, SUSCEPTIBILITY TO, 2PRKN, PARK2, PDJ, LPRS2
1CDATGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD
1TOENAIL DYSTROPHY, ISOLATEDCOL7A1
1PSORIATIC ARTHRITIS, SUSCEPTIBILITY TONOD2, CARD15, IBD1, CD, ACUG, PSORAS1
1BULN1BDNF
1CMD1NTCAP, LGMD2G, CMD1N
1KNCR1, C3BR
1FTLDUGRN
1BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVESLC19A3
1CMD1MCSRP3, CRP3, CLP, CMD1M
1NFRCDRLBP1
1BOTHNIA RETINAL DYSTROPHYRLBP1
1VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2VKORC1, VKOR, VKCFD2, FLJ00289
1GIL BLOOD GROUPAQP3
1DFNA44CCDC50, C3orf6, DFNA44
1ARVD8DSP, KPPS2, PPKS2
1LIS1PAFAH1B1, LIS1
1MRT2CRBN, MRT2A
1GCCD2MRAP, FALP, C21orf61, GCCD2, FGD2
1BARTTER SYNDROME, TYPE 3CLCNKB
1MKS3TMEM67, MKS3, JBTS6
1FCDTTSC1, LAM
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
1THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6DUOX2, THOX2
1MCPHASLC25A19, DNC, MUP1, MCPHA
1LGMD2IFKRP, MDC1C, LGMD2I
1ALLERGIC RHINITISIL13, ALRH, BHR1
1CDG1GALG12
1SCA17TBP, SCA17
1CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIESCRYBB2, CRYB2
1CINCACIAS1, FCU, FCAS, NALP3, PYPAF1
1DFNB30MYO3A, DFNB30
1ANAUXETIC DYSPLASIARMRP, RMRPR, CHH
1CDG2DB4GALT1, GGTB2, GT1, GTB
1DFNB31WHRN, CIP98, KIAA1526, DFNB31, USH2D
1GONADAL DYSGENESIS, 46,XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHYDHH
1EDM5MATN3, EDM5, HOA
1PARK8LRRK2, PARK8
1DFNB22OTOA, DFNB22
1SCHEIE SYNDROMEIDUA, IDA
1HURLER-SCHEIE SYNDROMEIDUA, IDA
1HURLER SYNDROMEIDUA, IDA
1SLSN4NPHP4, SLSN4
1NPHP4NPHP4, SLSN4
1OCA1BTYR
1USH1GSANS, USH1G
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
1GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIERSLC2A1, GLUT1
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
1NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART DEFECTSDTNA, D18S892E, DRP3, LVNC1
1MDC1CFKRP, MDC1C, LGMD2I
1SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICALHX4
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FHSPB1, HSP27, CMT2F, HMN2B
1LIG4 SYNDROMELIG4
1VAMAS1NALP1, KIAA0926, DEFCAP, CARD7, SLEV1, VAMAS1
1OCA4SLC45A2, MATP, AIM1
1CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE BDNM2, CMTDIB, CMTDI1
1HDL2JPH3, JP3, HDL2
1MYOKYMIA WITH NEONATAL EPILEPSYKCNQ2, EBN1
1EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCYTNXB, TNX, TNXB1, TNXBS, TNXB2
1HYPOTONIA-CYSTINURIA SYNDROMESLC3A1, ATR1, D2H, NBAT
1EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPEMAPK10, PRKM10, JNK3
1MOVED TO 606658CNTN4, SCA16
1PLSJALS2, ALSJ, PLSJ, IAHSP
1DFNA22MYO6, DFNA22, DFNB37
1PARK7DJ1, PARK7
1ASPSASPSCR1, RCC17, ASPL, ASPS
1CHROMOSOME 22q13.3 DELETION SYNDROMESHANK3, PSAP2, PROSAP2, KIAA1650
1AVSD2CRELD1, AVSD2
1BASAL GANGLIA DISEASE, ADULT-ONSETFTL
1HFE4SLC40A1, SLC11A3, FPN1, IREG1, HFE4
1CDG2BGCS1
1TRANSALDOLASE DEFICIENCYTALDO1
1SCAR1SETX, SCAR1, AOA2, ALS4
1NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TOZNF365, UAN
13-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL, DEFICIENCY OFHMGCS2
1PARK6PINK1, PARK6
1DMGDHDDMGDH, DMGDHD
1LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARYFH
1NMGNE, GLCNE, IBM2, DMRV, NM
1CITRULLINEMIA, TYPE II, NEONATAL-ONSETSLC25A13, CTLN2
1MYASTHENIA, FAMILIAL INFANTILE, 1CMS1A1, FIM1
1ATOD4SOCS3, SSI3, CIS3, ATOD4
1FANCD1BRCA2, FANCD1
1AMYLOIDOSIS, CEREBROARTERIAL, HEREDITARY, IOWA TYPEAPP, 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
1CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1ABDOMINAL OBESITY-METABOLIC SYNDROMEMTP
1PARK4SNCA, NACP, PARK1, PARK4
1USH2CMASS1, VLGR1, KIAA0686, FEB4, USH2C
1RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIAHOXA11, HOX1I
1HYPOTRICHOSIS SIMPLEXTGIF, HPE4
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
1SHFM4TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8
1SPG13HSPD1, SPG13, HSP60
1SCA13KCNC3, SCA13
1IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2AICDA, AID, HIGM2
1SBSMYH9, MHA, FTNS, DFNA17
1SLEB2PDCD1, SLEB2
1DFNA23SIX1, BOS3, DFNA23
1MONAMMP2, CLG4A, MONA
1HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCYNR3C2, MLR, MCR
1C-LIKE SYNDROMECD96, TACTILE
1EDMD3LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1WFS2CISD2, WFS2, ZCD2, ERIS
1NAICCIRH1A, NAIC, TEX292, KIAA1988
1OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIACOL2A1
1STL2COL11A1, STL2
1MCPH3CDK5RAP2, KIAA1633, MCPH3
1LI3CYP4F22, LI3
1CMD1IDES, CMD1I
1CRS2MSX2, CRS2, HOX8
1DFNA20ACTG1, DFNA20, DFNA26
1ORTHOSTATIC INTOLERANCESLC6A2, NAT1, NET1
1STHAG3PAX9
1CMT4B2SBF2, MTMR13, CMT4B2
1LCA5LCA5, C6orf152
1ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROMEPKP1
1CAMTMPL, TPOR, MPLV
1SCA11TTBK2, SCA11
1PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNEPSTPIP1, PSTPIP, CD2BP1, PAPAS
1FEB3SCN1A, GEFSP2, SMEI, FEB3
1ARVD5LAMR1, LAMBR
1LCA4AIPL1, LCA4
1ATLDMRE11A, MRE11, ATLD
1NPHP3NPHP3, NPH3
1AHLIPH
1CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCYSCO2
1SIALURIA, FINNISH TYPESLC17A5, SIASD, SLD
1SPG11SPG11, KIAA1840, FLJ21439
1FEB4MASS1, VLGR1, KIAA0686, FEB4, USH2C
1ADVANCED SLEEP-PHASE SYNDROME, FAMILIALPER2, FASPS, KIAA0347
1SCA12PPP2R2B
1DSMA1IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6
1MASS SYNDROMEFBN1, MFS1, WMS
1RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILEMIF
1EEC3TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8
1ACERULOPLASMINEMIACP
1LGMD2ESGCB, LGMD2E
1RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATIONSLC4A4, NBC1, KNBC, SLC4A5
1ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCYATPAF2, ATP12
1HFE3TFR2, HFE3
1LEBER CONGENITAL AMAUROSIS, TYPE IIIRDH12, LCA3
1PETERS ANOMALYCYP1B1, GLC3A
1FENIBSERPINI1, PI12
1SPG10KIF5A, NKHC, SPG10
1LVNC1DTNA, D18S892E, DRP3, LVNC1
1CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHYCTDP1, FCP1, CCFDN
1CMD1GTTN, CMD1G, TMD, LGMD2J, MPRM, HMERF
1EPIDERMOLYSIS BULLOSA PRURIGINOSACOL7A1
1VOHWINKEL SYNDROME, VARIANT FORMLOR
1CORD3ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2
1MLCMLC1, LVM, VL
1FSGS2TRPC6, TRP6, FSGS2
1CERVICAL CANCERFGFR3, ACH
1DIABETIC NEPHROPATHY, SUSCEPTIBILITY TOACE, DCP1, ACE1
1ALPS2ACASP10, MCH4, ALPS2
1BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPEHBB
1MCKD2UMOD, HNFJ, FJHN, MCKD2, ADMCKD2
1LQT3SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2
1VFSCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2
1ARHLDLRAP1, ARH, FHCB2, FHCB1
1PETERS ANOMALY WITH CATARACTPAX6, AN2, MGDA
1HCHOLA3PCSK9, NARC1, HCHOLA3, FH3
1DFNB16STRC, DFNB16
1HMERFTTN, CMD1G, TMD, LGMD2J, MPRM, HMERF
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
1SPG8KIAA0196, SPG8
1FHL2PRF1, HPLH2, FLH2
1FHL4STX11, FHL4, HPLH4, HLH4
1MOVED TO 600791SLC26A4, PDS, DFNB4
1LMSTP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8
1DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL EDEMADHS
1SCA10ATXN10, SCA10
1CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVEGAD1, SCP
1CTLN2SLC25A13, CTLN2
1HYPERTHYROIDISM, FAMILIAL GESTATIONALTSHR
1GRACILE SYNDROMEBCS1L, FLNMS, GRACILE, BJS, PTD
1CCM3PDCD10, TFAR15, CCM3
1CCM2C7orf22, CCM2, MGC4067
1FSGS1ACTN4, FSGS1, FSGS
1PHP1BGNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO
1HDL1PRNP, PRIP
1SCZD5TAAR6, TRAR4, SCZD5
1CDG1CALG6
1MNGIEECGF1, MNGIE
1EADCOLQ, EAD
1SCZD6NRG1, HGL, HRGA, ARIA
1AMDMNPR2, ANPRB, AMDM
1MUENKE SYNDROMEFGFR3, ACH
1RSMD1SEPN1, SELN, RSMD1
1RTADRATP6V0A4, ATP6N1B, VPP2, RTA1C, RTADR
1DM2ZNF9, CNBP1, DM2, PROMM
1MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCEMYCN, NMYC, ODED, MODED
1CDG1BMPI, PMI1
1ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESSGJB2, CX26, DFNB1, PPK, DFNA3, KID, HID
1HYPERLIPIDEMIA, COMBINED, 1USF1, HYPLIP1
1HHF3GCK, HHF3
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
1PFIC3ABCB4, PGY3, MDR3
1SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TYPE IIMMP13, CLG3
1COD3GUCA1A, GCAP
1DFNB18USH1C, DFNB18
1NPHP2INVS, INV, NPHP2, NPH2
1USH1FPCDH15, DFNB23, USH1H
1CDB2TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD
1SPCH1FOXP2, SPCH1, TNRC10, CAGH44
1TMAUFMO3
1CFEOM2PHOX2A, ARIX, CFEOM2
1ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRICLOR
1PURE&aposKRTHB5, HB5
1HOMGTRPM6, CHAK2
1LGMD2GTCAP, LGMD2G, CMD1N
1IDDM10IL2RA, IL2R, IDDM10
1MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5CACNA1S, CACNL1A3, CCHL1A3
1CZP3GJA3, CX46, CZP3, CAE3
1BMND1LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4
1DFNA13COL11A2, STL3, DFNA13
1ALPSTNFRSF6, APT1, FAS, CD95, ALPS1A
1PFIC2ABCB11, BSEP, SPGP, PFIC2
1MOVED TO 601543TECTA, DFNA8, DFNA12, DFNB21
1HHF2KCNJ11, BIR, PHHI, HHF2, TNDM3
1PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCYPHGDH
1EVR4LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4
1SHEP3OCA2, P, PED, D15S12, BOCA, EYCL3
1CLN6CLN6
1CORD6GUCY2D, GUC2D, LCA1, CORD6
1SLEB1TLR5, TIL3, SLEB1
1RP19ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2
1YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROMESOX10, WS4, WS2E
1NOVELTY SEEKING PERSONALITY TRAITDRD4
1BARTTER SYNDROME, ANTENATAL, TYPE 1SLC12A1, NKCC2
1IRID1FOXC1, FKHL7, FREAC3
1CMT4CSH3TC2, KIAA1985
1WT5POU6F2, WTSL, WT5
1STUVE-WIEDEMANN SYNDROMELIFR, STWS, SWS, SJS2
1HJMDCDH3, CDHP, PCAD, HJMD
1BLOOD GROUP--FROESESLC4A1, AE1, EPB3
1SWSLC4A1, AE1, EPB3
1CCA2CRYBB2, CRYB2
1DFNA12TECTA, DFNA8, DFNA12, DFNB21
1ABDSHOXA1, HOX1F, BSAS
1HPC1RNASEL, RNS4, PRCA1, HPC1
1CMD1DTNNT2, CMH2, CMD1D
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
1CMT4B1MTMR2, CMT4B1
1CRISPONI SYNDROMECRLF1, CISS
1DFNA9COCH, DFNA9
1MCOPS8SNX3
1NFNSNF1, VRNF, WSS, NFNS
1DFNA11MYO7A, USH1B, DFNB2, DFNA11
1DFNA10EYA4, DFNA10, CMD1J
1LGMD2FSGCD, SGD, LGMD2F, CMD1L
1CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANTCRYGD, CRYG4, CCP
1NIDDM1CAPN10
1LI2ABCA12, ICR2B, LI2
1ATCAYATCAY, CLAC, KIAA1872
1NAXOS DISEASEJUP, DP3, PDGB, ARVD12
1MCOPS9STRA6, MCOPS9
1CMD1ESCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2
1HEREDITARY MOTOR AND SENSORY NEUROPATHY VIMFN2, KIAA0214, CMT2A2
1BRUGADA SYNDROME 1SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2
1CDG1DALG3, NOT56L, CDGS4
1PSNP1MAPT, MTBT1, DDPAC, MSTD
1CMT1CLITAF, CMT1C
1DFNB8TMPRSS3, ECHOS1, DFNB8, DFNB10
1DFNB9OTOF, DFNB9, NSRD9
1USH1DCDH23, USH1D, USH1H
1TSCACNA1C, CACNL1A1, CCHL1A1, TS
1BRODY MYOPATHYATP2A1, SERCA1
1EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVEKRT14
1ARVD2RYR2, VTSIP, ARVD2, ARVC2
1SRN1PDCN, NPHS2, SRN1
1DFNA5DFNA5
1DFNB7TMC1, DFNB7, DFNB11, DFNA36
1ACG1BSLC26A2, DTD, DTDST, D5S1708, EDM4
1DFNB6TMIE, DFNB6
1EDM3COL9A3, EDM3, IDD
1DFNA6WFS1, WFRS, WFS, DFNA6
1PROPROTEIN CONVERTASE 1/3 DEFICIENCYPCSK1, NEC1, PC1, PC3
1CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATEDANK2, LQT4
1HYPERFERRITINEMIA-CATARACT SYNDROMEFTL
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
1EVAFOXI1, FKHL10, FREAC6
1IBM2GNE, GLCNE, IBM2, DMRV, NM
1D-2-@HYDROXYGLUTARIC ACIDURIAD2HGD
1DFNA4MYH14, KIAA2034, DFNA4
1CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILECPT2
1NEVUS, EPIDERMAL, EPIDERMOLYTIC HYPERKERATOTIC TYPEKRT10
1PVRL1HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7
1EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1CHRNA4, ENFL1
1ADLTELGI1, EPT, ETL1
1ABCD SYNDROMEEDNRB, HSCR2, ABCDS
1MODY3TCF1, HNF1A, MODY3
1MLASAPUS1, MLASA
1ORW2ACVRL1, ACVRLK1, ALK1, HHT2
1SPG6NIPA1, SPG6
1TIBIAL MUSCULAR DYSTROPHY, TARDIVETTN, CMD1G, TMD, LGMD2J, MPRM, HMERF
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
1SACRAL DEFECT WITH ANTERIOR MENINGOCELEVANGL1, STBM2
1CLN8CLN8, EPMR
1RP11PRPF31, PRP31
1RP14TULP1, RP14
1RCDP3AGPS, ADHAPS
1WARBMRAB3GAP1, WARBM1, P130
1PARK2PRKN, PARK2, PDJ, LPRS2
1STGD3ELOVL4, ADMD, STGD2, STGD3
1RP12CRB1, RP12, LCA8
125-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVECYP2R1
1FFIPRNP, PRIP
1DFNB2MYO7A, USH1B, DFNB2, DFNA11
1RP13PRPF8, PRPC8, RP13
1EIKEN SKELETAL DYSPLASIAPTHR1, PTHR
1DEAFNESS, AMINOGLYCOSIDE-INDUCEDTRMU, MTO2, TRNT1
1SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKEDUSP9Y, DFFRY
1SERTOLI CELL-ONLY SYNDROME, Y-LINKEDZNF148, ZFP148
1COL1A2
1VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKEDFAAP95, FAAP90, FLJ34064, FANCB
1DYT3TAF1, TAF2A, CCG1, BA2R, DYT3
1THC1WAS, IMD2, THC
1SEDTTRAPPC2, SEDL, SEDT
1SMAX1AR, DHTR, TFM, SBMA, KD, SMAX1
1SPG2PLP1, PMD
1SGBS1GPC3, SDYS, SGBS1
1CIDXIL2RG, SCIDX1, SCIDX, IMD4
1PYRUVATE DECARBOXYLASE DEFICIENCYPDHA1, PHE1A
1PMDPLP1, PMD
1PROPERDIN DEFICIENCY, X-LINKEDPFC, PFD
1OPD1FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS
1ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TOOTC
1OFD1OFD1, CXorf5, SGBS2
1OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIATIMM8A, DFN1, DDP, MTS, DDP1
1CMTX5PRPS1, CMTX5
1NYS1FRMD7
1CSNB1ACSNB1, NYX
1XRNCLCN5, CLCK2, NPHL2, DENTS, NPHL1
1NSXPOLA
1MTM1MTM1, MTMX
1EDMDEMD, EDMD, STA
1MCOPS7HCCS, MCOPS7
1MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPESMS, SRS, MRSR
1MRXHF1ATRX, XH2, XNP, MRXS3, SHS, SFM1, MRXHF1
1MRX9FTSJ1, JM23, SPB1, MRX44, MRX9
1MRX3GDI1, RABGD1A, MRX41, MRX48
1PRTSARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43
1RENS1PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8
1MENKES DISEASEATP7A, MNK, MK, OHS
1MNSFLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS
1OCRLOCRL, LOCR, OCRL1, NPHL2
1PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSISCLCN5, CLCK2, NPHL2, DENTS, NPHL1
1LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHYCOL4A6
1LEIGH SYNDROME, X-LINKEDPDHA1, PHE1A
1KFSDSAT1, SSAT, KFSD
1IPIKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1
1XLP1SH2D1A, LYP, IMD5, XLP, XLPD
1HIGM1TNFSF5, CD40LG, HIGM1, IGM
1CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTSNSDHL
1HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANTPHEX, HYP, HPDR1
1HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKEDBTK, AGMX1, IMD1, XLA, AT
1HYPERGLYCEROLEMIAGK
1HSASL1CAM, CAML1, HSAS1
1HTX1ZIC3, HTX1, HTX
1CGDCYBB, CGD
1FDHPORCN, PORC, DHOF, FODH
1FACIOGENITAL DYSPLASIAFGD1, FGDY, AAS
1EVR2NDP, ND
1XHEDED1, EDA, HED
1DKCDKC1, DKC
1DIABETES INSIPIDUS, NEPHROGENIC, X-LINKEDAVPR2, DIR, DI1, ADHR
1IPEXFOXP3, IPEX, AIID, XPID, PIDX
1MTSTIMM8A, DFN1, DDP, MTS, DDP1
1DFNX2POU3F4, DFN3
1CUTIS LAXA, X-LINKEDATP7A, MNK, MK, OHS
1OPD2FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS
1CFNSEFNB1, EPLG2, CFNS, CFND
1CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKEDL1CAM, CAML1, HSAS1
1CORDX1RPGR, RP3, CRD, RP15, COD1
1CLSRPS6KA3, RSK2, MRX19
1CPXTBX22, CPX
1MASA SYNDROMEL1CAM, CAML1, HSAS1
1CHMCHM, TCD
1CDPX2EBP, CDPX2, CPXD, CPX
1CDPX1ARSE, CDPX1, CDPXR
1CMTX1GJB1, CX32, CMTX1
1NHSNHS
1BTHSTAZ, EFE2, BTHS, CMD3A, LVNCX
1CMD3BDMD, BMD, CMD3B
1BFLSPHF6, BFLS
1ARTSPRPS1, CMTX5
1FABRY DISEASEGLA
1ASATABCB7, ABC7, ASAT
1AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1AMELX, AMG, AIH1, AMGX
1ATSCOL4A5, ATS, ASLN
1ATRXATRX, XH2, XNP, MRXS3, SHS, SFM1, MRXHF1
1WASWAS, IMD2, THC
1MRXS14UPF3B, RENT3B, MRXS14
1ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONSMECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16
1PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITYPRPS1, CMTX5
1MRX93BRWD3, MRX93
1PHOSPHOGLYCERATE KINASE 1 DEFICIENCYPGK1, PGKA
1SRPX2SRPX2, SRPUL, RESDX
1MENTAL RETARDATION, X-LINKED, WITH BRACHYDACTYLY AND MACROGLOSSIACUL4B, MRXSC, MRXHF2, SFM2
1AMCBX1IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1
1XLP2BIRC4, API3, XIAP, XLP2
1MRX59AP1S2, MRX59
1FRAGILE X MENTAL RETARDATION SYNDROMEFMR1, FRAXA
1FXTASFMR1, FRAXA
1TN SYNDROMEC1GALT1C1, COSMC, C1GALT2
1HYPEREKPLEXIA AND EPILEPSYARHGEF9, PEM2, KIAA0424
1HYPODONTIA, X-LINKEDED1, EDA, HED
1POF2BFLJ22792
1AIEDCACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2
1CDLS2DXS423E, SMC1, CDLS2
1IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIAIKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1
1CHROMOSOME Xp11.3 DELETION SYNDROMERP2
1MRX91ZDHHC15, MRX91
1MUSCLE GLYCOGENOSIS, X-LINKEDPHKA1
1MRX30PAK3, MRX30, MRX47
1HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVECLCN5, CLCK2, NPHL2, DENTS, NPHL1
1NSIADAVPR2, DIR, DI1, ADHR
1HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANTFLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS
1MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATEDSMCX, MRXSJ, DXS1272E, XE169, JARID1C
1AHDSSLC16A2, DXS128, XPCT
1FANCBFAAP95, FAAP90, FLJ34064, FANCB
1POF2ADIAPH2, DIA, POF2
1ODG2BMP15, GDF9B, ODG2, POF4
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
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, WITH RECURRENT RESPIRATORY INFECTIONSRPGR, RP3, CRD, RP15, COD1
1ATMDSATRX, XH2, XNP, MRXS3, SHS, SFM1, MRXHF1
1HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCYHADH2, ERAB
1MRX46ARHGEF6, MRX46, COOL2
1STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROMESHROOM4, KIAA1202, SDSX
1MOVED TO 308350ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43
1AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1NLGN3, ASPGX1, AUTSX1
1XMREATP6AP2, ATP6M8-9, XMRE, MRXE
1MRXARXARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43
1SCIDX1IL2RG, SCIDX1, SCIDX, IMD4
1RP3RPGR, RP3, CRD, RP15, COD1
1MRX63FACL4, ACS4, MRX63
1BMDDMD, BMD, CMD3B
1DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIAGATA1, GF1, ERYF1, NFE1
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
1BMIQ11SLC6A14, OBX
1OLEDAIDIKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1
1XLNWAS, IMD2, THC
1ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCYIKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1
1SIDERIUS X-LINKED MENTAL RETARDATION SYNDROMEPHF8, ZNF422, KIAA1111, MRXSSD
1MRXSLMECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16
1DANON DISEASELAMP2, LAMPB
1IKBKGIKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1
1HHSDKC1, DKC
1LISX2ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43
1MRX58TM4SF2, MXS1, A15, MRX58
1SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2OFD1, CXorf5, SGBS2
1AHCDAX1, AHC, AHX, NROB1
1AMME COMPLEXAMMECR1
1LVNCXTAZ, EFE2, BTHS, CMD3A, LVNCX
1MCOPS2BCOR, KIAA1575, MCOPS2, MAA2, ANOP2
1MRX21IL1RAPL1, IL1R8, MRX21, MRX34
1MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISMSOX3, MRGH
1ALDABCD1, ALD, AMN
1SXI1XIC, XCE, XIST, SXI1
1CSNB2ACACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2
1CMD3ATAZ, EFE2, BTHS, CMD3A, LVNCX
1AISAR, DHTR, TFM, SBMA, KD, SMAX1
1LISX1DCX, DBCN, LISX
1MRXS13MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16
1HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANTFLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS
1RP15RPGR, RP3, CRD, RP15, COD1
1DSSDAX1, AHC, AHX, NROB1
1CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIAARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43
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
1XPAXPA, XPAC
1ROCATYRP1, CAS2, GP75
1XANTHINURIA, TYPE IXDH
1WINCHESTER SYNDROMEMMP2, CLG4A, MONA
1WILSON DISEASEATP7B, WND
1WERNICKE-KORSAKOFF SYNDROMETKT
1WZSCOL11A2, STL3, DFNA13
1WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVEADAMTS10, WMS
1WEAVER SYNDROMENSD1, ARA267, STO
1VEDTTPA, TTP1, AVED
1VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1GGCX
1VITAMIN D-DEPENDENT RICKETS, TYPE IIVDR
1METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPEMMACHC
1SCDO1DLL3, SCDO1
1CBAVDCFTR, ABCC7, CF, MRP7
1MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROMEWNT4
1VACTERL ASSOCIATION WITH HYDROCEPHALUSPTEN, MMAC1
1USH1CUSH1C, DFNB18
1USH3USH3A, USH3
1USH2AUSH2A, RP39
1USHER SYNDROME, TYPE IMYO7A, USH1B, DFNB2, DFNA11
1ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCYWNT7A
1TYROSINEMIA, TYPE IIIHPD
1TWINNING, DIZYGOTICFSHR, ODG1
1SPG20SPG20
1CDSABHD5, CGI58, IECN2, NCIE2
1CHNG1TSHR
1PDSSLC26A4, PDS, DFNB4
1THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2ATPO, TPX
1THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1SLC5A5, NIS
1GRTHTHRB, ERBA2, THR1
1TTPADAMTS13, VWFCP, TTP
1THROMBASTHENIA OF GLANZMANN AND NAEGELIITGA2B, GP2B, CD41B
1THREE M SYNDROMECUL7
1TETRA-AMELIA, AUTOSOMAL RECESSIVEWNT3, INT4
1TSDHEXA, TSD
1SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROMEFLNB, SCT, AOI, LRS1
1CISS1CRLF1, CISS
1SULFOCYSTEINURIASUOX
1MSDSUMF1, FGE
1SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCYALDH5A1, SSADH
1SNDINUP62, SNDI, IBSN
1CANAVAN DISEASEASPA
1SPONDYLOPERIPHERAL DYSPLASIACOL2A1
1SMA4SMN1, SMA1, SMA2, SMA3, SMA4
1SPHEROCYTOSIS, AUTOSOMAL RECESSIVESPTA1
1AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSISSYCP3, SCP3, COR1
1SPG17BSCL2, SPG17, HMN5
1SACSSACS, ARSACS
1SLOSDHCR7, SLOS
1SLSALDH3A2, ALDH10, SLS, FALDH
1SITUS INVERSUS VISCERUMDNAH11, DNAHC11
1SIALURIAGNE, GLCNE, IBM2, DMRV, NM
1INFANTILE SIALIC ACID STORAGE DISORDERSLC17A5, SIASD, SLD
1CGL2BSCL2, SPG17, HMN5
1SEA-BLUE HISTIOCYTE DISEASEAPOE, AD2
1SOSTSOST, VBCH
1SCHIZENCEPHALYEMX2
1SC PHOCOMELIA SYNDROMEESCO2
1SARCOSINEMIASARDH, SARD, SAR
1SANDHOFF DISEASEHEXB
1SACCHAROPINURIAAASS
1RTSRECQL4, RTS, RECQ4
1ROBINOW SYNDROME, AUTOSOMAL RECESSIVEROR2, BDB1, BDB, NTRKR2
1RBSESCO2
1RMS1SLC22A1L, BWSCR1A, IMPT1
1RHNRHAG, RH50A
1ESCSNR2E3, PNR, ESCS
1KNOBLOCH SYNDROME, TYPE ICOL18A1, KNO
1RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESSATP6B1, VPP3
1SLSN1NPHP1, NPH1, SLSN1, JBTS4
1RAPADILINO SYNDROMERECQL4, RTS, RECQ4
1CDG2CSLC35C1, FUCT1
1PYRUVATE KINASE DEFICIENCY OF RED CELLSPKLR, PK1
1PYRUVATE CARBOXYLASE DEFICIENCYPC
1HPPSPTA1
1GLUTATHIONE SYNTHETASE DEFICIENCYGSS, GSHS
1URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TONT5C3, UMPH1, PSN1
1PYCNODYSOSTOSISCTSK
1PVODBMPR2, PPH1
1SMDP1SFTPB, SFTB3, SMDP1
1PULMONARY ALVEOLAR MICROLITHIASISSLC34A2
1MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANTCHRNG, ACHRG
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
1HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIAPCBD, DCOH
1GITELMAN SYNDROMESLC12A3, NCCT, TSC
1PORPHYRIA, CONGENITAL ERYTHROPOIETICUROS
1ERYTHROCYTOSIS, FAMILIAL, 2VHL
1POLYCYTHEMIA VERAJAK2
1ARPKDFCYT, PKHD1, ARPKD
1PITUITARY DWARFISM IVGH1, GHN
1PITUITARY DWARFISM IIILHX3
1GROWTH HORMONE INSENSITIVITY SYNDROMEGHR
1PITUITARY DWARFISM IGH1, GHN
1ACHM3CNGB3, ACHM3
1PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIESINSR, HHF5
1BJSBCS1L, FLNMS, GRACILE, BJS, PTD
1PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVEPHKB
1PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILSEPX
1IFDGIF, IF
1HIDSMVK, MVLK
1PARKINSON-DEMENTIA SYNDROMEMAPT, MTBT1, DDPAC, MSTD
1SDSSBDS, SDS
1PANCREATIC AGENESIS, CONGENITALIPF1
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
1NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TOGP1BA
13-@METHYLGLUTACONIC ACIDURIA, TYPE IIIOPA3, MGA3
1OODDWNT10A
1LIS2RELN, RL
1CSNB1BGRM6, MGLUR6, CSNB1B
1NPC1NPC1, NPC
1NIEMANN-PICK DISEASE, TYPE ASMPD1, NPD
1GAN1GAN, GAN1
1NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVECCT5, KIAA0098, CCTE
1CIPANTRK1, TRKA, MTC
1CLN5CLN5
1CLN1PPT1, CLN1
1INAD1PLA2G6, IPLA2, INAD1
1NEURAMINIDASE DEFICIENCYNEU1, NEU, SIAL1
1NETHSPINK5, LEKTI
1HHF1ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2
1NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSISWT1
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
1CFTDACTA1, ASMA, NEM3, NEM1, CFTD1
1MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVEBIN1, AMPHL
1CARNITINE PALMITOYLTRANSFERASE I DEFICIENCYCPT1A
1CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSETCPT2
1MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORGCSTB, STFB, EPM1
1EJM1EFHC1, FLJ10466, EJM1
1MYELOPEROXIDASE DEFICIENCYMPO
1MYELOFIBROSISJAK2
1MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEACHAT, CMS1A2
1MMDYSF, LGMD2B
1LGMD2HTRIM32, HT2A, LGMD2H, BBS11
1FCMDFKTN, FCMD
1LGMD2CSGCG, LGMD2C, DMDA1, SCG3
1LGMD2BDYSF, LGMD2B
1LGMD2ACAPN3, CANP3
1SMA2SMN1, SMA1, SMA2, SMA3, SMA4
1SMA3SMN1, SMA1, SMA2, SMA3, SMA4
1SMA1SMN1, SMA1, SMA2, SMA3, SMA4
1MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPECHRNG, ACHRG
1HOLOCARBOXYLASE SYNTHETASE DEFICIENCYHLCS, HCS
1BIOTINIDASE DEFICIENCYBTD
1MULIBREY NANISMTRIM37, MUL, KIAA0898
1MUCOPOLYSACCHARIDOSIS TYPE VIIGUSB, MPS7
1MUCOPOLYSACCHARIDOSIS TYPE VIARSB, MPS6
1MORQUIO SYNDROME BGLB1
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 COMPLEX II DEFICIENCYSDHA, SDH2, SDHF
1NIJMEGEN BREAKAGE SYNDROMENBS1, NBS
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
1BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OFHIBCH
1METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSISRMRP, RMRPR, CHH
1CHHRMRP, RMRPR, CHH
1METACHROMATIC LEUKODYSTROPHYARSA
1METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCYPSAP, SAP1
1MRT1PRSS12, BSSP3, MRT1
1TRMASLC19A2, THTR1
1MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROMECHRNA3
1FMFMEFV, MEF, FMF
1MKS1MKS1, MKS
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
1HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENTCLDN19
1MDLSYWHAE, MDCR, MDS
1LIPOID PROTEINOSIS OF URBACH AND WIETHEECM1
1CMRDSARA2, SAR1B, CMRD
1LEPROSY, SUSCEPTIBILITY TOTLR2, TIL4
1DONOHUE SYNDROMEINSR, HHF5
1LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCYLCAT
1LOCSLAMA3, LOCS
1GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCYSTAT5B
1SGDCEBPE, CRP1
1LACTIC ACIDOSIS, FATAL INFANTILESUCLG1
1PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCYPDX1
1ERYTHROCYTE LACTATE TRANSPORTER DEFECTSLC16A1, MCT1
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
1KCSTBCE, KCS, KCS1, HRD
1KAL3PROKR2, PKR2, GPR73L1, KAL3
1JBSUBR1, JBS
1IVAIVD
1BRIC1ATP8B1, FIC1, BRIC, PFIC1
1MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOASTK13, AIE2
1INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVESCN9A, NENA, PN1
1IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPESMARCAL1, HARP, SIOD
1IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROMEDNMT3B, ICF
1MOVED TO 244400DNAI1, CILD1, ICS, PCD
1ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPEABCA12, ICR2B, LI2
1LI1TGM1, ICR2, LI1
1HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATEFOXE1, FKHL15, TITF2, TTF2
1HYPOPROTEINEMIA, HYPERCATABOLICB2M
1HYPOPLASTIC LEFT HEART SYNDROMEGJA1, CX43, ODDD, SDTY3, ODOD
1HHRHSLC34A3, NPTIIC, HHRH
1HYPOPHOSPHATASIA, CHILDHOODALPL, HOPS, TNSALP
1HYPOPHOSPHATASIA, INFANTILEALPL, HOPS, TNSALP
1HRDTBCE, KCS, KCS1, HRD
1BARTTER SYNDROME, ANTENATAL, TYPE 2KCNJ1, ROMK1
1LIHABCC8, SUR, PHHI, SUR1, HHF1, TNDM2
1GLYCOGEN STORAGE DISEASE 0, LIVERGYS2
1CVIDTNFRSF13B, TACI, CVID
1APS1AIRE, APECED
1HPIIALDH4A1, ALDH4, P5CDH
1HPIPRODH, PRODH2, SCZD4
1NSHPTCASR, HHC1, PCAR1, FIH
1HYPEROSTOSIS CORTICALIS GENERALISATASOST, VBCH
1PAGET DISEASE, JUVENILETNFRSF11B, OPG, OCIF
1HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROMESLC25A15, ORNT1, HHH
1HYPERLYSINEMIAAASS
1HYPERLIPOPROTEINEMIA, TYPE ILPL, LIPD, HDLCQ11
1HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATALUGT1A1, UGT1, GNT1
1DJSABCC2, CMOAT
1N-ACETYLGLUTAMATE SYNTHASE DEFICIENCYNAGS
1CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TOCPS1
1L-2-HYDROXYGLUTARIC ACIDURIAL2HGDH, C14orf160
1MKKSMKKS, HMCS, KMS, MKS, BBS6
1HYDROLETHALUS SYNDROME 1HYLS1, FLJ32915
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
1HOLOPROSENCEPHALYHPE6
1HISTIDINEMIAHAL, HSTD
1MOWAT-WILSON SYNDROMEZEB2, ZFHX1B, SMADIP1, SIP1
1VODISP110, IFI41, IFI75, VODI
1HFEBMP2, BMP2A
1HARTNUP DISORDERSLC6A19, HND
1NBIA1PANK2, NBIA1, PKAN, HARP
1TTDN1TTDN1, C7orf11, ABHS
1FACTOR XII DEFICIENCYF12, HAF, HAE3
1GTP CYCLOHYDROLASE I DEFICIENCYGCH1, DYT5
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
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 IbG6PT1
1GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TOGSS, GSHS
1GLUTARIC ACIDEMIA IGCDH
1AAAAAAS, AAA
13-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCYHADHSC, SCHAD, HHF4
1GLC3ACYP1B1, GLC3A
1HYDATIDIFORM MOLENALP7, NOD12, PYPAF3, HYDM
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
1FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCYFBP1
1FORMIMINOTRANSFERASE DEFICIENCYFTCD
1FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATEDFSHB
1FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLYWNT7A
1FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLYGDF5, CDMP1, SYNS2
1FIBROMATOSIS, JUVENILE HYALINEANTXR2, CMG2, JHF, ISH
1FERTILE EUNUCH SYNDROMEGNRHR, LHRHR
1FBSSLC2A2, GLUT2
1FAFANCA, FACA, FA1, FA, FAA
1SHEP1OCA2, P, PED, D15S12, BOCA, EYCL3
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
1RDEBCOL7A1
1ENTEROKINASE DEFICIENCYPRSS7, ENTK
1AGS1TREX1, AGS1, AGS5, CRV, HERNS
1EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVEADAMTS2, NPI
1EHLERS-DANLOS SYNDROME, TYPE VIPLOD, PLOD1
1EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITYFN1
1CLPED1HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7
1ROSSELLI-GULIENETTI SYNDROMEHVEC, PVRL1, PVRR1, PRR1, ED4, OFC7
1DDSHHSPG2, PLC, SJS, SJA, SJS1
1ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE ICDAN1, CDA1
1CHMRQ1VLDLR, VLDLRCH
1HSAN3IKBKAP, IKAP
1DMCDYM, FLJ90130, DMC, SMC
1DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITALDBH
1CSIDSI
1RCDP2GNPAT, DHAPAT
1DICARBOXYLICAMINO ACIDURIASLC1A1, EAAC1
1LPISLC7A7, LPI
1DIASTROPHIC DYSPLASIASLC26A2, DTD, DTDST, D5S1708, EDM4
1DONNAI-BARROW SYNDROMELRP2, DBS
1WFS1WFS1, WFRS, WFS, DFNA6
1DFNB1GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID
1HYPOURICEMIA, RENALSLC22A12, OAT4L, URAT1
1LSFCLRPPRC, LRP130, LSFC
1CYSTINURIASLC3A1, ATR1, D2H, NBAT
1CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPECTNS
1CTNSCTNS
1CYSTINOSIS, ADULT NONNEPHROPATHICCTNS
1CYSTATHIONINURIACTH
1CRIGLER-NAJJAR SYNDROMEUGT1A1, UGT1, GNT1
1CHNG2PAX8
1BGSRECQL4, RTS, RECQ4
1ACCPNSLC12A6, KCC3A, KCC3B, KCC3, ACCPN
1MCDC1CHST6, MCDC1
1CHED2SLC4A11, BTR1, NABC1, CHED2, CDPD
1CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESSSLC4A11, BTR1, NABC1, CHED2, CDPD
1CNA2KERA, CNA2
1PLASMINOGEN DEFICIENCY, TYPE IPLG
1ACHM2CNGA3, CNG3, ACHM2
1COH1COH1
1CSAERCC8, CKN1, CSA
1CITRULLINEMIA, CLASSICASS
1CHONDROSARCOMAEXT1
1HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIALBR, PHA
1RCDP1PEX7, RCDP1
1BOCDPTHR1, PTHR
1DIARRHEA 1, SECRETORY CHLORIDE, CONGENITALSLC26A3, DRA, CLD
1CHSCHS1, LYST
1GS1MYO5A, MYH12, GS1
1CMT4AGDAP1, CMT4A, CMT2K, CMT2G
1COFS1ERCC6, CKN2, COFS1, CSB, ARMD5
1CEREBROTENDINOUS XANTHOMATOSISCYP27A1, CYP27, CTX
1MARTSOLF SYNDROMERAB3GAP2, RAB3GAP150, p150, KIAA0839
1MCOPCT2SIX6, MCOPCT2
1CDSPSLC22A5, OCTN2, CDSP, SCD
1CARBOXYPEPTIDASE N DEFICIENCYCPN1, SCPN, CPN
1CDG2AMGAT2, CDGS2
1CDG1APMM2, CDG1
1C SYNDROMECD96, TACTILE
1PFIC1ATP8B1, FIC1, BRIC, PFIC1
1BLMRECQL3, RECQ2, BLM, BS
1SECKEL SYNDROME 1ATR, FRP1, SCKL
1BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHYCYP4V2, BCD
13-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCYMCCC2, MCCB
13-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCYMCCC1, MCCA
1AUTISMGLO1
1APLHR, AU
1ATRANSFERRINEMIATF
1EAOHAPTX, AOA, AOA1
1ATATM, ATA, AT1
1CACPPRG4, CACP, MSF, SZP, HAPO
1PPACWISP3, PPAC, PPD
1ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASISVPS33B
1ATSSLC2A10, GLUT10, ATS
1GACIENPP1, PDNP1, NPPS, M6S1, PCA1
1ARGININOSUCCINIC ACIDURIAASL
1ARGININEMIAARG1
1APOLIPOPROTEIN C-II DEFICIENCYAPOC2
1ABSFGFR2, BEK, CFD1, JWS
1MCOPS3SOX2, MCOPS3
1ANONYCHIA CONGENITARSPO4, CRISTIN4
1ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOADNRAMP2
1TGDABCA1, ABC1, HDLDT1, TGD
1ALS2ALS2, ALSJ, PLSJ, IAHSP
1CORNEAL DYSTROPHY, GELATINOUS DROP-LIKETACSTD2, TROP2, M1S1
1CLN2CLN2
1CLN3CLN3, BTS
1LCA2RPE65, RP20
1LCA1GUCY2D, GUC2D, LCA1, CORD6
1ALMSALMS1, ALSS, KIAA0328
1ALPHA-METHYLACETOACETIC ACIDURIAACAT1
1ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSISPOLG, POLG1, POLGA, PEO, SANDO, SCAE
1ALUNCHR, AU
1ALKAPTONURIAHGD, AKU
1CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCYCYP11B2
1OCA3TYRP1, CAS2, GP75
1OCA1ATYR
1MOVED TO 600899 AND 601457PRKDC, HYRC1, DNPK1
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
1HSAN2HSN2
1ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPEGDF5, CDMP1, SYNS2
1AEZSLC39A4, ZIP4
1CARPENTER SYNDROMERAB23
1ACLSGLI3, PAPA, PAPB, ACLS
1ACID PHOSPHATASE DEFICIENCYACP2
1CHONDRODYSPLASIA, GREBE TYPEGDF5, CDMP1, SYNS2
1ACG2COL2A1
1ACHEIROPODYLMBR1, ACHP, C7orf2, PPD2
1CHACVPS13A, CHAC
1ABLMTP
1ZINC, ELEVATED PLASMAALB
1WOLFF-PARKINSON-WHITE SYNDROMEPRKAG2, WPWS, CMH6
1DDSWT1
1WAGRWT1
1DA2AMYH3
1WHIM SYNDROMECXCR4, D2S201E, NPY3R, WHIM
1WEYERS ACROFACIAL DYSOSTOSISEVC
1WATSON SYNDROMENF1, VRNF, WSS, NFNS
1WS2AMITF, WS2A
1WS1PAX3, WS1, HUP2, CDHS
1ADHRFGF23, ADHR, HPDR2, PHPTC
1CVTHOXD10, HOX4D
1VENTRICULAR TACHYCARDIA, FAMILIALGNAI2, GNAI2B, GIP
1LQT1KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2
1VELOCARDIOFACIAL SYNDROMETBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR
1VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHYTREX1, AGS1, AGS5, CRV, HERNS
1MUCKLE-WELLS SYNDROMECIAS1, FCU, FCAS, NALP3, PYPAF1
1IBD11MUC3A
1TRPS3TRPS1
1TRPS1TRPS1
1TRICHODENTOOSSEOUS SYNDROMEDLX3, TDO
1ETM1DRD3, ETM1, FET1
1WITKOP SYNDROMEMSX1, HOX7, HYD1, OFC5
1THYROTOXIC PERIODIC PARALYSISCACNA1S, CACNL1A3, CCHL1A3
1GRTHTHRB, ERBA2, THR1
1DGSTBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR
1THROMBOPHILIAHABP2, PHBP, HGFAL, FSAP
1THC2FLJ14813, THC2
1TD1FGFR3, ACH
1HHTENG, END, HHT1, ORW
1SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIESNOD2, CARD15, IBD1, CD, ACUG, PSORAS1
1TCCNOG, SYM1, SYNS1
1SYNS1NOG, SYM1, SYNS1
1SYNDACTYLY, TYPE VHOXD13, HOX4I, SPD, BDSD
1SYNDACTYLY, TYPE IIIGJA1, CX43, ODDD, SDTY3, ODOD
1SPD1HOXD13, HOX4I, SPD, BDSD
1SVASELN
1STOMATOCYTOSIS IEPB72
1STL3COL11A2, STL3, DFNA13
1PCOS1FST, FS
1STEATOCYSTOMA MULTIPLEXKRT17, PC2, PCHC1
1STAPES ANKYLOSIS WITH BROAD THUMB AND TOESNOG, SYM1, SYNS1
1SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPECOL2A1
1SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPECOL2A1
1SEDCCOL2A1
1SHFM1SHFM5
1SCA2ATXN2, ATX2, SCA2
1SCA6CACNA1A, CACNL1A4, SCA6
1SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANTVAPB, VAPC, ALS8
1MYOPATHY, SPHEROID BODYTTID, MYOT
1SPG4SPG4, SPAST
1SPG3ASPG3A
1SMSRAI1, SMCR, SMS
1SEPTOOPTIC DYSPLASIAHESX1, RPX
1SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROMEFBN1, MFS1, WMS
1SCZD1CLINT1, EPN4, EPNR, KIAA0171, SCZD1
1UMSTBX3
1EDMD2LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1SALIVARY GLAND ADENOMA, PLEOMORPHICPLAG1, SGPA, PSA
1ALSGFGF10
1SRSH19, D11S813E, ASM1, BWS
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
1IHPS1NOS1, IHPS1
1PPH1BMPR2, PPH1
1PTOS1ZFH4
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
1PROTEUS SYNDROMEPTEN, MMAC1
1PELVIC ORGAN PROLAPSELAMC1, LAMB2
1HGPSLMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1FBDITM2B, BRI, ABRI, FBD
1CURRARINO SYNDROMEHLXB9, HOXHB9, SCRA1
1PRECOCIOUS PUBERTY, MALE-LIMITEDLHCGR
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
1JPHTMADH4, DPC4, SMAD4, JIP
1HEPODTNFRSF11A, RANK, ODFR, OFE
1MASGNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO
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
1PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANTGH1, GHN
1PPCRACRB1, RP12, LCA8
1PBTSNAI2, SLUG, WS2D
1MEN2ARET, MEN2A
1THIOUREA TASTINGTAS2R38, T2R61, PTC
1PERIODONTITIS, AGGRESSIVE, 1CTSC, CPPI, PALS, PLS, HMS, JPD
1HYPPSCN4A, HYPP, NAC1A
1ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSISKCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3
1BCPMATP2C1, BCPM, HHD
1LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANTLMNB1
1PHALBR, PHA
1PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUMRDS, RP7, PRPH2, PRPH, AVMD, AOFMD
1CHAR SYNDROMETFAP2B, CHAR
1PARK1SNCA, NACP, PARK1, PARK4
1PFMCCDMSX2, CRS2, HOX8
1PFMMSX2, CRS2, HOX8
1PMCSCN4A, HYPP, NAC1A
1PGL1SDHD, PGL1
1PAND1COMT
1PAROXYSMAL EXTREME PAIN DISORDERSCN9A, NENA, PN1
1IBMPFDVCP, IBMPFD
1OTOFACIOCERVICAL SYNDROMEEYA1, BOR
1BUSCHKE-OLLENDORFF SYNDROMELEMD3, MAN1
1OPTA2CLCN7, CLC7, OPTA2, OPTB4
1POHGNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO
1GDDTMEM16E, GDD1
1OSTEOGENESIS IMPERFECTA, TYPE IVCOL1A1
1ENCHONDROMATOSIS, MULTIPLEPTHR1, PTHR
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
1NS1PTPN11, PTP2C, SHP2, NS1
1SSS2HCN4
1CSNBAD2PDE6B, PDEB, CSNB3
1NEVUS, EPIDERMALFGFR3, ACH
1CYCLIC HEMATOPOIESISELA2
1HNPPPMP22, CMT1A, CMT1E, DSS
1HSAN1SPTLC1, LBC1, SPT1, HSN1, HSAN
1MEN2BRET, MEN2A
1NEUROFIBROMATOSIS, FAMILIAL SPINALNF1, VRNF, WSS, NFNS
1NF1MSH2, COCA1, FCC1, HNPCC1
1HNASEPT9, MSF, MSF1, NAPB
1SCHWANNOMATOSISNF2
1HNFJUMOD, HNFJ, FJHN, MCKD2, ADMCKD2
1NPSLMX1B, NPS1
1NAEGELI SYNDROMEKRT14
1CNC1PRKAR1A, TSE1, CNC1, CAR, PPNAD1
1DYSTROPHIA MYOTONICA 1DMPK, DM, DMK
1MYOTONIA CONGENITA, AUTOSOMAL DOMINANTCLCN1
1MPD1MYH7, CMH1, MPD1, CMD1S
1EA1KCNA1, AEMK, EA1
1LGMD1BLMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B
1LGMD1ATTID, MYOT
1HMN2AHSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A
1CDPTEN, MMAC1
1TRISMUS-PSEUDOCAMPTODACTYLY SYNDROMEMYH8
1HPE2SIX3, HPE2
1KNIEST DYSPLASIACOL2A1
1METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPEPTHR1, PTHR
1MRD1MBD5, KIAA1461, MRD1
1MENIERE DISEASECOCH, DFNA9
1MELORHEOSTOSISLEMD3, MAN1
1MELANOMA-ASTROCYTOMA SYNDROMECDKN2A, MTS1, P16, MLM, CMM2
1CMM2CDKN2A, MTS1, P16, MLM, CMM2
1CMMCMM4
1MHAMYH9, MHA, FTNS, DFNA17
1MARSHALL SYNDROMECOL11A1, STL2
1MOVED TO 610380TGFBR2, HNPCC6, AAT3, MFS2
1MFSFBN1, MFS1, WMS
1TCOFTCOF1, MFD1
1HOMG2FXYD2, ATP1G1, HOMG2
1MACULAR DYSTROPHY, CONCENTRIC ANNULARBEST1, VMD2
1ARMD2ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2
1VMDBEST1, VMD2
1EPSTEIN SYNDROMEMYH9, MHA, FTNS, DFNA17
1FTNSMYH9, MHA, FTNS, DFNA17
1CHROMOSOME 5q DELETION SYNDROMEIRF1, MAR
1BRRSPTEN, MMAC1
1LYMPHEDEMA-DISTICHIASIS SYNDROMEFOXC2, FKHL14, MFH1
1YELLOW NAIL SYNDROMEFOXC2, FKHL14, MFH1
1LYMPHEDEMA, HEREDITARY, IIFOXC2, FKHL14, MFH1
1LYMPHEDEMA, HEREDITARY, IAFLT4, VEGFR3, PCL
1MOVED TO 153400FOXC2, FKHL14, MFH1
1KCNH2ALG10, KCR1
1LIPOMATOSIS, MULTIPLEHMGA2, HMGIC, BABL, LIPO, STQTL9
1PLSDTCOL2A1
1LEOPARD SYNDROME 1PTPN11, PTP2C, SHP2, NS1
1LEIOMYOMA, HEREDITARY MULTIPLE, OF SKINFH
1LRS1FLNB, SCT, AOI, LRS1
1KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESSGJB2, CX26, DFNB1, PPK, DFNA3, KID, HID
1WS3PAX3, WS1, HUP2, CDHS
1KERATODERMA, PALMOPLANTAR, WITH DEAFNESSGJB2, CX26, DFNB1, PPK, DFNA3, KID, HID
1KTCN1VSX1, RINX, PPCD, PPD, KTCN
1KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANTGJB2, CX26, DFNB1, PPK, DFNA3, KID, HID
1KERATITIS, HEREDITARYPAX6, AN2, MGDA
1KAPOSI SARCOMAIL6, IFNB2, BSF2
1KAL2FGFR1, FLT2, KAL2
1SPSTBX4
1IVIC SYNDROMESALL4, HSAL4
1ICPABCB4, PGY3, MDR3
1SMMCISHH, HPE3, HLP3, SMMCI, MCOPCB5
1ICHTHYOSIS, BULLOUS TYPEKRT2A, KRT2E
1ICHTHYOSIS VULGARISFLG
1IHCMKRT1
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
1MHS1RYR1, MHS, CCO
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
1HCA2SAC, HCA2
1GILBERT SYNDROMEUGT1A1, UGT1, GNT1
1HYPERALPHALIPOPROTEINEMIACETP, HDLCQ10
1WGN1CSPG2, WGN, WGN1, ERVR
1HPE4TGIF, HPE4
1HPE3SHH, HPE3, HLP3, SMMCI, MCOPCB5
1HOSTBX5
1PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANTTNFRSF1A, TNFR1, TNFAR, FPF
1HBFQTL5BCL11A, CTIP1, EVI9, KIAA1809, HBFQTL5
1HEPATIC ADENOMAS, FAMILIALTCF1, HNF1A, MODY3
1FHM1CACNA1A, CACNL1A4, SCA6
1BFHCOL4A3
1HAWKINSINURIAHPD
1HASHIMOTO THYROIDITISCTLA4, IDDM12, CELIAC3
1HAND-FOOT-UTERUS SYNDROMEHOXA13, HOX1J
1AEXSCYP19A1, CYP19, ARO
1GVMGLML, GVM, VMGLOM
1RENAL CYSTS AND DIABETES SYNDROMETCF2, HNF2, MODY5, FJHN
1IRID2PITX2, IDG2, RIEG1, RGS, IGDS2
1GTSSLITRK1, KIAA1910
1GSDPRNP, PRIP
1SFDTIMP3, SFD
1FECD1COL8A2, FECD, PPCD2
1FRASIER SYNDROMEWT1
1MENTAL RETARDATION, FRA12A TYPEDIP2B, KIAA1463
1FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROMEPAX6, AN2, MGDA
1FEDLCAT
1LAURIN-SANDROW SYNDROMEMIPOL1
1CFEOM1KIF21A, KIAA1708, FEOM1, CFEOM1
1DESMOID DISEASE, HEREDITARYAPC, GS, FPC
1BHDFLCN, BHD
1FOPACVR1, ACVRLK2, ALK2, FOP
1EVR1FZD4, EVR1
1EXOSTOSES, MULTIPLE, TYPE IIEXT2
1EXOSTOSES, MULTIPLE, TYPE IEXT1
1CSBERCC6, CKN2, COFS1, CSB, ARMD5
1ERYTHROCYTOSIS, FAMILIAL, 1EPOR
1ERYTHERMALGIA, PRIMARYSCN9A, NENA, PN1
1AAT4MYH11, AAT4, FAA4
1CYLINDROMATOSIS, FAMILIALCYLD1, CDMT, EAC
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
1ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPESPTA1
1EHLERS-DANLOS SYNDROME, PROGEROID FORMB4GALT7, XGALT1, XGPT1
1EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANTCOL3A1
1EHLERS-DANLOS SYNDROME, TYPE IICOL5A1
1ECTOPIA PUPILLAEPAX6, AN2, MGDA
1ECTOPIA LENTIS, ISOLATEDFBN1, MFS1, WMS
1ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANTGJB6, CX30, DFNA3, HED, ED2
1RHSTP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8
1DYT12ATP1A3, DYT12, RDP
1DRDGCH1, DYT5
1DYT1DYT1, TOR1A
1DYX1DYX1C1, DYXC1, DYX1
1DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1ADAR, DRADA, DSH, DSRAD, IFI4, G1P1
1DHRDEFEMP1, FBNL, DHRD
1MODY2GCK, HHF3
1DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMALAQP2
1DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPEAVP, AVRP, VP
1DPRKRT14
1DENTINOGENESIS IMPERFECTA, SHIELDS TYPE IIIDSPP, DPP, DGI1, DFNA39, DTDP2
1DGI1DSPP, DPP, DGI1, DFNA39, DTDP2
1MAFD1XBP1, XBP2
1DENTIN DYSPLASIA, TYPE IIDSPP, DPP, DGI1, DFNA39, DTDP2
1DRPLADRPLA
1CADASILNOTCH3, CADASIL, CASIL
1OPTIC ATROPHY 1 AND DEAFNESSOPA1, NTG, NPG
1DFNA1DIAPH1, DFNA1, LFHL1
1DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOESGJB2, CX26, DFNB1, PPK, DFNA3, 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
1CMDDANKH, HANK, ANK, CMDJ, CCAL2, CPPDD
1CDHSPAX3, WS1, HUP2, CDHS
1CDLS1NIPBL, CDLS1
1CDL1TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD
1CDGG1TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD
1CORNEAL FLECK DYSTROPHYPIP5K3, CFD
1CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANETGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD
1EBN2KCNQ3, EBN2, BFNC2
1EBN1KCNQ2, EBN1
1CORD2CRX, CORD2, CRD, LCA7
1LYNCH SYNDROME IMSH2, COCA1, FCC1, HNPCC1
1COLOBOMA OF OPTIC NERVEPAX6, AN2, MGDA
1PAPILLORENAL SYNDROMEPAX2
1FCAS1CIAS1, FCU, FCAS, NALP3, PYPAF1
1CCDRUNX2, CBFA1, PEBP2A1, AML3
1CPISATB2, KIAA1034
1OFC1MTR
1PPSIRF6, VWS, LPS, PIT, PPS, OFC6
1VWSIRF6, VWS, LPS, PIT, PPS, OFC6
1PNKD1MR1, TAHCCP2, KIPP1184, BRP17, PNKD, FPD1, PDC, DYT8
1BHCTITF1, 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
1CMT1BMPZ, CMT1B, CMTDI3, CHM, DSS
1EAR WAX, WET/DRYABCC11, MRP8, EWWD, WW
1SOTOS SYNDROMENSD1, ARA267, STO
1FDDITM2B, BRI, ABRI, FBD
1SPINOCEREBELLAR ATAXIA, 16q22-LINKEDPLEKHG4
1CENTRAL CORE DISEASE OF MUSCLERYR1, MHS, CCO
1LADITGB2, CD18, LCAMB, LAD
1CCMCCM1, CAM, KRIT1
1CATARACT, LAMELLARHSF4, CTM
1CZP1GJA8, CX50, CAE1
1CATARACT, CRYSTALLINE ACULEIFORMCRYGD, CRYG4, CCP
1PGL4SDHB, SDH1, SDHIP, PGL4
1RCM1TNNI3, CMH7
1CMH4MYBPC3, CMH4
1CMH3TPM1, CMH3
1CMH2TNNT2, CMH2, CMD1D
1CARDIOFACIOCUTANEOUS SYNDROMEBRAF
1CARCINOID TUMORS, INTESTINALSDHD, PGL1
1MOVED TO 120435MSH2, COCA1, FCC1, HNPCC1
1CAMPOMELIC DYSPLASIASOX9, CMD1, SRA1
1CAFFEY DISEASECOL1A1
1BLMYC
1BOR1EYA1, BOR
1BDEHOXD13, HOX4I, SPD, BDSD
1BDDHOXD13, HOX4I, SPD, BDSD
1BDCGDF5, CDMP1, SYNS2
1BDB1ROR2, BDB1, BDB, NTRKR2
1BOOMERANG DYSPLASIAFLNB, SCT, AOI, LRS1
1YTACHE, YT
1WRSLC4A1, AE1, EPB3
1WDSLC4A1, AE1, EPB3
1SCERMAP, SC, RD
1RDERMAP, SC, RD
1OKBSG
1IiGCNT2
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
1AOIIIFLNB, SCT, AOI, LRS1
1AOIFLNB, SCT, AOI, LRS1
1EA2CACNA1A, CACNL1A4, SCA6
1STL1COL2A1
1DA1TPM2, TMSB, AMCD1, DA1
1ARVD1TGFB3
1TBSSALL1, HSAL1, TBS
1ALDH7A1ALDH7A1, ATQ1, EPD, PDE
1ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATETP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8
1ANPAX6, AN2, MGDA
1HAEC1NH, HAE1, HAE2, SERPING1
1AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1TRPM7, LTRPC7, CHAK
1AMYLOIDOSIS VICST3
1AMYLOIDOSIS VGSN
1AI4DLX3, TDO
1AI1BENAM, AIH2
1ALZHEIMER DISEASE 2APOE, AD2
1ALTERNATING HEMIPLEGIA OF CHILDHOODATP1A2, FHM2, MHP2
1GRACYP11B1, P450C11, FHI
1PHP1AGNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO
1TIETZ SYNDROMEMITF, WS2A
1ADULT SYNDROMETP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8
1ADENYLOSUCCINASE DEFICIENCYADSL
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 Administrator: Takeru Nakazato

Database Center for Life Science