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01 Abnormalities, Multiple [NCBI]


Gene


Gene Link Information
Gain
01
AFA [NCBI] 0.00153063
HFM [NCBI] 0.0010891
SCZD4 [NCBI] 0.00053422
DIH1 [NCBI] 0.000495009
HCA1 [NCBI] 0.000495009
OSCS [NCBI] 0.000495009
RSS [NCBI] 0.000495009
ACLS [NCBI] 0.000495009
SHFM2 [NCBI] 0.000411489
VCF [NCBI] 0.000373824
HMI [NCBI] 0.000373824
FND [NCBI] 0.000328274
KCNQ1OT1 [NCBI] 0.000307133
GLI3 [NCBI] 0.000250709
LOC353194 [NCBI] 0.000247316
MRXSAB [NCBI] 0.000247316
VWS2 [NCBI] 0.000247316
SHFM1D [NCBI] 0.000247316
NOS2P3 [NCBI] 0.000247316
XCE [NCBI] 0.000247316
COHEN2 [NCBI] 0.000247316
KCNMB3L [NCBI] 0.000247316
LOC339257 [NCBI] 0.000247316
TIMM8AP [NCBI] 0.000247316
LOC220594 [NCBI] 0.000247316
MRXSA [NCBI] 0.000247316
LOC252840 [NCBI] 0.000247316
WBS2 [NCBI] 0.000247316
TYS [NCBI] 0.000247316
JBS [NCBI] 0.000247316
ZNF137 [NCBI] 0.000247316
CECR8 [NCBI] 0.000247316
ACRPS [NCBI] 0.000247316
ACRPV [NCBI] 0.000247316
CECR9 [NCBI] 0.000247316
CDAGS [NCBI] 0.000247316
DGCR10 [NCBI] 0.000247316
DGCR12 [NCBI] 0.000247316
PAFAH1P1 [NCBI] 0.000247316
CLRN1OS [NCBI] 0.000247316
LOC147226 [NCBI] 0.000247316
MRST [NCBI] 0.000247316
SCKL3 [NCBI] 0.000247316
TKCR [NCBI] 0.000247316
SALL1P [NCBI] 0.000247316
BDMR [NCBI] 0.000247316
CCDC144C [NCBI] 0.000247316
MMEDF [NCBI] 0.000247316
BWCNS [NCBI] 0.000247316
EBM [NCBI] 0.000247316
DGCR11 [NCBI] 0.000247316
TSSK1A [NCBI] 0.000247316
LOC162632 [NCBI] 0.000247316
CORD1 [NCBI] 0.000247316
GUST [NCBI] 0.000247316
SPG24 [NCBI] 0.000247316
LOC284196 [NCBI] 0.000247316
LOC147150 [NCBI] 0.000247316
MKS2 [NCBI] 0.000247316
LOC339244 [NCBI] 0.000247316
MSSD [NCBI] 0.000247316
MHAC [NCBI] 0.000247316
SPOAN [NCBI] 0.000247316
FGS2 [NCBI] 0.000247316
SMCR6 [NCBI] 0.000247316
SMCR2 [NCBI] 0.000247316
FGS4 [NCBI] 0.000247316
ODPF [NCBI] 0.000247316
FGS1 [NCBI] 0.000247316
DGCR9 [NCBI] 0.000247316
LOC147228 [NCBI] 0.000247316
FGS3 [NCBI] 0.000247316
MRXS11 [NCBI] 0.000247316
PAFAH1P2 [NCBI] 0.000247316
MESTIT1 [NCBI] 0.000247316
LOC353196 [NCBI] 0.000247316
THAS [NCBI] 0.000247316
EEC2 [NCBI] 0.000247316
CLPSMCR [NCBI] 0.000247316
LOC252841 [NCBI] 0.000247316
SCKL2 [NCBI] 0.000247316
CLAM [NCBI] 0.000247316
SMCR5 [NCBI] 0.000247316
RRDX [NCBI] 0.000247316
LOC339240 [NCBI] 0.000247316
SMCR3 [NCBI] 0.000247316
SPG9 [NCBI] 0.000247316
LOC339258 [NCBI] 0.000247316
LOC339186 [NCBI] 0.000247316
LOC347717 [NCBI] 0.000247316
LOC347716 [NCBI] 0.000247316
COHEN1 [NCBI] 0.000247316
POM121L1 [NCBI] 0.000247316
MRXSL [NCBI] 0.000247316
LOC266619 [NCBI] 0.000247316
CECR3 [NCBI] 0.000247316
KRT17P2 [NCBI] 0.000247316
COTL1P2 [NCBI] 0.000247316
SALL1 [NCBI] 0.000219155
NSD1 [NCBI] 0.000196097
MRX49 [NCBI] 0.000186725
WTRS [NCBI] 0.000186725
USH2B [NCBI] 0.000186725
MCS [NCBI] 0.000186725
MRX5 [NCBI] 0.000186725
JBTS1 [NCBI] 0.000186725
PRS [NCBI] 0.000186725
CTAA1 [NCBI] 0.000186725
CORS2 [NCBI] 0.000186725
DBQD [NCBI] 0.000186725
SCAR5 [NCBI] 0.000186725
ZEB2 [NCBI] 0.00018535
CHD7 [NCBI] 0.000182381
PAX2 [NCBI] 0.000165218
HSCRM1 [NCBI] 0.000163952
AIC [NCBI] 0.000163952
PSS [NCBI] 0.000163952
ASMD [NCBI] 0.000149217
ACF [NCBI] 0.000149217
ZLS [NCBI] 0.000149217
MNX1 [NCBI] 0.00014771
TP63 [NCBI] 0.000146066
FGD1 [NCBI] 0.000140666
UFS [NCBI] 0.0001383
RAI1 [NCBI] 0.000137121
GJA1 [NCBI] 0.000114814
NHS [NCBI] 0.000110415
VUR [NCBI] 0.000108732
TBX5 [NCBI] 9.82671e-05
PITX3 [NCBI] 9.21722e-05
PITX2 [NCBI] 9.01154e-05
PITX1 [NCBI] 8.68011e-05
FGFR2 [NCBI] 8.60715e-05
PAX6 [NCBI] 8.52911e-05
KTWS [NCBI] 8.31392e-05
MID1 [NCBI] 8.23889e-05
SHH [NCBI] 8.18816e-05
CKAP4 [NCBI] 8.1035e-05
PTPN11 [NCBI] 8.10139e-05
MEG3 [NCBI] 8.07148e-05
GPC3 [NCBI] 7.95649e-05
ROR2 [NCBI] 7.95356e-05
TBX3 [NCBI] 7.86836e-05
SHOX [NCBI] 7.68375e-05
NBN [NCBI] 7.55304e-05
IRF6 [NCBI] 7.55032e-05
FOXC1 [NCBI] 7.42435e-05
NOG [NCBI] 7.33037e-05
AHI1 [NCBI] 7.20205e-05
COL2A1 [NCBI] 7.11629e-05
VPS13B [NCBI] 7.06821e-05
PAFAH1B1 [NCBI] 6.69083e-05
MKS1 [NCBI] 6.53745e-05
PHF6 [NCBI] 6.53745e-05
H19 [NCBI] 6.39219e-05
HOXA13 [NCBI] 6.33582e-05
RPS6KA3 [NCBI] 6.28592e-05
POR [NCBI] 6.12251e-05
ATRX [NCBI] 6.12098e-05
FGFR3 [NCBI] 5.90373e-05
ALMS1 [NCBI] 5.79927e-05
MKKS [NCBI] 5.79927e-05
FOXL2 [NCBI] 5.58984e-05
TMEM67 [NCBI] 5.51873e-05
FLNA [NCBI] 4.99967e-05
POMT1 [NCBI] 4.96297e-05
NSDHL [NCBI] 4.86226e-05
DLX3 [NCBI] 4.84972e-05
SOX9 [NCBI] 4.64355e-05
L1CAM [NCBI] 4.64002e-05
GRB10 [NCBI] 4.34878e-05
SALL4 [NCBI] 4.18961e-05
WNT4 [NCBI] 4.14779e-05
DYM [NCBI] 4.11805e-05
TAZ [NCBI] 4.09592e-05
CEP290 [NCBI] 4.05214e-05
HOXD13 [NCBI] 4.0005e-05
UBR1 [NCBI] 3.8536e-05
ARX [NCBI] 3.8292e-05
MAP2K2 [NCBI] 3.64591e-05
T [NCBI] 3.60865e-05
HRAS [NCBI] 3.58701e-05
WHSC2 [NCBI] 3.51395e-05
ESCO2 [NCBI] 3.51395e-05
FGF10 [NCBI] 3.45539e-05
DGCR14 [NCBI] 3.38293e-05
MED12 [NCBI] 3.35535e-05
UFD1L [NCBI] 3.23851e-05
TRPS1 [NCBI] 3.16876e-05
TFAP2B [NCBI] 3.10436e-05
EYA1 [NCBI] 3.10031e-05
BCOR [NCBI] 3.09794e-05
SOX2 [NCBI] 3.03607e-05
FBXW4 [NCBI] 2.89874e-05
HYLS1 [NCBI] 2.86431e-05
GSC2 [NCBI] 2.86431e-05
MEST [NCBI] 2.8436e-05
EIF2AK3 [NCBI] 2.79263e-05
BRAF [NCBI] 2.76237e-05
MYO15A [NCBI] 2.74525e-05
SBDS [NCBI] 2.7346e-05
B3GALTL [NCBI] 2.67303e-05
STRA6 [NCBI] 2.67303e-05
ADAMTS10 [NCBI] 2.67303e-05
AAAS [NCBI] 2.65853e-05
GLI2 [NCBI] 2.64056e-05
ALX4 [NCBI] 2.62033e-05
FREM2 [NCBI] 2.53703e-05
ERCC2 [NCBI] 2.51279e-05
SLC26A2 [NCBI] 2.47952e-05
MAP2K1 [NCBI] 2.45705e-05
GSC [NCBI] 2.43063e-05
MID2 [NCBI] 2.43063e-05
COPG2 [NCBI] 2.43063e-05
FBN1 [NCBI] 2.42127e-05
ARVCF [NCBI] 2.34299e-05
FGF8 [NCBI] 2.32044e-05
KRAS [NCBI] 2.31212e-05
WHSC1 [NCBI] 2.27229e-05
PQBP1 [NCBI] 2.20347e-05
TWIST1 [NCBI] 2.17481e-05
ATPAF2 [NCBI] 2.16672e-05
LRRC48 [NCBI] 2.16672e-05
C17orf39 [NCBI] 2.16672e-05
LMNA [NCBI] 2.13798e-05
HESX1 [NCBI] 2.13025e-05
RECQL4 [NCBI] 2.11223e-05
TGFBR2 [NCBI] 2.10023e-05
PTEN [NCBI] 2.04489e-05
COL11A2 [NCBI] 2.03843e-05
CFC1 [NCBI] 2.00459e-05
COL11A1 [NCBI] 2.00459e-05
CSH1 [NCBI] 1.96508e-05
NPHP1 [NCBI] 1.95477e-05
OFD1 [NCBI] 1.89428e-05
HIRA [NCBI] 1.86229e-05
TREX1 [NCBI] 1.86229e-05
YWHAE [NCBI] 1.86229e-05
EHMT1 [NCBI] 1.83913e-05
CECR1 [NCBI] 1.83913e-05
MFAP4 [NCBI] 1.83913e-05
RNF112 [NCBI] 1.83913e-05
KIAA1279 [NCBI] 1.83913e-05
MACROD2 [NCBI] 1.83913e-05
ZIC3 [NCBI] 1.83221e-05
TBCE [NCBI] 1.83221e-05
MYCN [NCBI] 1.72089e-05
TGFBR1 [NCBI] 1.71544e-05
PAX1 [NCBI] 1.70406e-05
FLRT3 [NCBI] 1.69124e-05
SNX3 [NCBI] 1.69124e-05
CLTCL1 [NCBI] 1.69124e-05
DRG2 [NCBI] 1.69124e-05
SEC23A [NCBI] 1.69124e-05
RPS19 [NCBI] 1.66545e-05
ZMPSTE24 [NCBI] 1.66075e-05
FRAS1 [NCBI] 1.58982e-05
GTF2H5 [NCBI] 1.58982e-05
CRLF1 [NCBI] 1.58982e-05
FOXE1 [NCBI] 1.58401e-05
CDKL5 [NCBI] 1.58401e-05
TNF [NCBI] 1.57639e-05
BBS1 [NCBI] 1.56654e-05
EBP [NCBI] 1.54967e-05
CENPC1 [NCBI] 1.51755e-05
LHX3 [NCBI] 1.51217e-05
LETM1 [NCBI] 1.51217e-05
NKX2-5 [NCBI] 1.49351e-05
ERCC8 [NCBI] 1.48739e-05
SRY [NCBI] 1.47982e-05
SMARCD3 [NCBI] 1.44915e-05
CUL4B [NCBI] 1.44915e-05
TNNT3 [NCBI] 1.44915e-05
KCNJ12 [NCBI] 1.44915e-05
MYO7A [NCBI] 1.39846e-05
EN1 [NCBI] 1.39609e-05
COPS3 [NCBI] 1.39609e-05
DHCR7 [NCBI] 1.33729e-05
PAX3 [NCBI] 1.33433e-05
KCNJ2 [NCBI] 1.32664e-05
TBX1 [NCBI] 1.31622e-05
SHANK3 [NCBI] 1.30994e-05
GATA4 [NCBI] 1.30601e-05
POU1F1 [NCBI] 1.30588e-05
FOXG1 [NCBI] 1.27394e-05
CHRND [NCBI] 1.24141e-05
TOP3A [NCBI] 1.24141e-05
ZIC1 [NCBI] 1.24141e-05
VPS33B [NCBI] 1.24141e-05
SPINK5 [NCBI] 1.24004e-05
ACSL4 [NCBI] 1.21177e-05
FLNB [NCBI] 1.21177e-05
TRIM37 [NCBI] 1.18453e-05
SEPT5 [NCBI] 1.18453e-05
LEFTY1 [NCBI] 1.18453e-05
FKTN [NCBI] 1.17431e-05
GAN [NCBI] 1.15935e-05
DLL3 [NCBI] 1.15935e-05
POMGNT1 [NCBI] 1.15935e-05
FOXC2 [NCBI] 1.15182e-05
NDP [NCBI] 1.1374e-05
ARSE [NCBI] 1.13593e-05
EVC [NCBI] 1.13593e-05
VSX1 [NCBI] 1.13593e-05
DNMT3B [NCBI] 1.11657e-05
BMP5 [NCBI] 1.11404e-05
LAMB2 [NCBI] 1.09351e-05
NDEL1 [NCBI] 1.09351e-05
BUB1B [NCBI] 1.09351e-05
EXOC6B [NCBI] 1.0833e-05
LOC347715 [NCBI] 1.0833e-05
TBCA [NCBI] 1.0833e-05
DOC2B [NCBI] 1.0833e-05
SMCR9 [NCBI] 1.0833e-05
LOC284048 [NCBI] 1.0833e-05
CECR6 [NCBI] 1.0833e-05
ZNF136 [NCBI] 1.0833e-05
FLJ13773 [NCBI] 1.0833e-05
MED12L [NCBI] 1.0833e-05
LBX1 [NCBI] 1.0833e-05
KERSMCR [NCBI] 1.0833e-05
CECR5 [NCBI] 1.0833e-05
MED9 [NCBI] 1.0833e-05
MSGN1 [NCBI] 1.0833e-05
NHSL1 [NCBI] 1.0833e-05
ZNF138 [NCBI] 1.0833e-05
C12orf4 [NCBI] 1.0833e-05
ZW10 [NCBI] 1.0833e-05
NPLOC4 [NCBI] 1.0833e-05
TRESMCR [NCBI] 1.0833e-05
CCDC144A [NCBI] 1.0833e-05
CHD8 [NCBI] 1.0833e-05
SMCR8 [NCBI] 1.0833e-05
NT5M [NCBI] 1.0833e-05
ZNF155 [NCBI] 1.0833e-05
MESDC1 [NCBI] 1.0833e-05
MED13L [NCBI] 1.0833e-05
ZNF140 [NCBI] 1.0833e-05
LOC246315 [NCBI] 1.0833e-05
ZNF154 [NCBI] 1.0833e-05
ZFP90 [NCBI] 1.0833e-05
DYRK4 [NCBI] 1.0833e-05
CCDC144B [NCBI] 1.0833e-05
GPR171 [NCBI] 1.0833e-05
SRPSMCR [NCBI] 1.0833e-05
ZNF134 [NCBI] 1.0833e-05
CLRN1 [NCBI] 1.07417e-05
DKC1 [NCBI] 1.07127e-05
WNT5A [NCBI] 1.0414e-05
HOXA7 [NCBI] 1.03858e-05
HAND1 [NCBI] 1.03858e-05
CHRNA1 [NCBI] 1.03858e-05
MYH9 [NCBI] 1.02998e-05
DSC1 [NCBI] 1.02212e-05
HOXA1 [NCBI] 1.02212e-05
MITF [NCBI] 1.01559e-05
BBS4 [NCBI] 1.00645e-05
HAND2 [NCBI] 1.00645e-05
GNAS [NCBI] 1.00337e-05
EDAR [NCBI] 9.77171e-06
PHOX2B [NCBI] 9.71739e-06
SIX1 [NCBI] 9.63456e-06
BMP4 [NCBI] 9.48704e-06
EN2 [NCBI] 9.37637e-06
ERCC6 [NCBI] 9.24561e-06
CENPE [NCBI] 9.02375e-06
SLC16A2 [NCBI] 9.02375e-06
HIC1 [NCBI] 9.02375e-06
SOX3 [NCBI] 9.02375e-06
FGFR1 [NCBI] 8.81861e-06
MECP2 [NCBI] 8.75649e-06
ERCC3 [NCBI] 8.70569e-06
PEMT [NCBI] 8.60626e-06
SIX3 [NCBI] 8.60626e-06
HSD17B4 [NCBI] 8.60626e-06
GJB2 [NCBI] 8.52203e-06
INPP5K [NCBI] 8.45565e-06
ZIC5 [NCBI] 8.45565e-06
PPA1 [NCBI] 8.45565e-06
ZNF135 [NCBI] 8.45565e-06
LGALS9C [NCBI] 8.45565e-06
ARL13B [NCBI] 8.45565e-06
SLC47A1 [NCBI] 8.45565e-06
CC2D2A [NCBI] 8.45565e-06
SYT14 [NCBI] 8.45565e-06
EOMES [NCBI] 8.45565e-06
DLX2 [NCBI] 8.45565e-06
HOXB1 [NCBI] 8.45565e-06
BCL2L13 [NCBI] 8.45565e-06
LGALS9B [NCBI] 8.45565e-06
KCNMB3 [NCBI] 8.45565e-06
KLF14 [NCBI] 8.45565e-06
HS2ST1 [NCBI] 8.45565e-06
ZNF132 [NCBI] 8.45565e-06
PPM1B [NCBI] 8.45565e-06
MESP2 [NCBI] 8.45565e-06
MED21 [NCBI] 8.45565e-06
BRWD3 [NCBI] 8.45565e-06
ZNF141 [NCBI] 8.45565e-06
ALKBH5 [NCBI] 8.45565e-06
LPAR5 [NCBI] 8.45565e-06
ATP6V1E1 [NCBI] 8.45565e-06
COTL1 [NCBI] 8.45565e-06
FAM20C [NCBI] 8.45565e-06
OSR2 [NCBI] 8.45565e-06
ZNF131 [NCBI] 8.45565e-06
ZNF142 [NCBI] 8.45565e-06
UBQLN4 [NCBI] 8.45565e-06
NAT8 [NCBI] 8.45565e-06
NXF5 [NCBI] 8.45565e-06
SLC25A18 [NCBI] 8.45565e-06
EEF1A3 [NCBI] 8.45565e-06
TSSK2 [NCBI] 8.45565e-06
STARD5 [NCBI] 8.45565e-06
PRKAR1A [NCBI] 8.42907e-06
PAX4 [NCBI] 8.41616e-06
TGIF1 [NCBI] 8.41616e-06
BUB1 [NCBI] 8.35513e-06
KLK7 [NCBI] 8.32517e-06
SIP1 [NCBI] 8.23668e-06
USH1C [NCBI] 8.23668e-06
SHMT1 [NCBI] 8.23668e-06
UBE2I [NCBI] 7.60542e-06
FGD2 [NCBI] 7.56027e-06
SMG6 [NCBI] 7.56027e-06
FBN3 [NCBI] 7.56027e-06
PAPSS2 [NCBI] 7.56027e-06
C7orf10 [NCBI] 7.56027e-06
SFRS15 [NCBI] 7.56027e-06
LHX1 [NCBI] 7.56027e-06
CD96 [NCBI] 7.56027e-06
ZKSCAN1 [NCBI] 7.56027e-06
NT5C [NCBI] 7.56027e-06
NKX3-2 [NCBI] 7.56027e-06
SLC9A6 [NCBI] 7.56027e-06
OSGIN2 [NCBI] 7.56027e-06
SHOX2 [NCBI] 7.56027e-06
SMCR7 [NCBI] 7.56027e-06
LPIN3 [NCBI] 7.56027e-06
GLOD4 [NCBI] 7.56027e-06
RASD1 [NCBI] 7.56027e-06
CDH7 [NCBI] 7.56027e-06
PRRX2 [NCBI] 7.56027e-06
RAI2 [NCBI] 7.56027e-06
BARHL1 [NCBI] 7.56027e-06
NDUFB6 [NCBI] 7.56027e-06
SPAG6 [NCBI] 7.56027e-06
ZNF143 [NCBI] 7.56027e-06
SF3A2 [NCBI] 7.56027e-06
CECR2 [NCBI] 7.56027e-06
RAB3GAP2 [NCBI] 7.56027e-06
FERD3L [NCBI] 7.56027e-06
YAF2 [NCBI] 7.56027e-06
PITPNA [NCBI] 7.56027e-06
ZNF19 [NCBI] 7.56027e-06
SLC25A1 [NCBI] 7.56027e-06
SMARCD2 [NCBI] 7.56027e-06
BMPR1A [NCBI] 7.53467e-06
INSR [NCBI] 7.4342e-06
PAX9 [NCBI] 7.26663e-06
GDF5 [NCBI] 7.14075e-06
CDK7 [NCBI] 7.07968e-06
FKRP [NCBI] 7.07968e-06
P2RY14 [NCBI] 6.97991e-06
GDF11 [NCBI] 6.97991e-06
RCN1 [NCBI] 6.97991e-06
FUCA2 [NCBI] 6.97991e-06
GUK1 [NCBI] 6.97991e-06
GGT5 [NCBI] 6.97991e-06
TOM1L2 [NCBI] 6.97991e-06
TNS3 [NCBI] 6.97991e-06
C12orf5 [NCBI] 6.97991e-06
SC5DL [NCBI] 6.97991e-06
SIX2 [NCBI] 6.97991e-06
AKTIP [NCBI] 6.97991e-06
FGD3 [NCBI] 6.97991e-06
DNAJC19 [NCBI] 6.97991e-06
RBM19 [NCBI] 6.97991e-06
RTEL1 [NCBI] 6.97991e-06
KLHL4 [NCBI] 6.97991e-06
KLF16 [NCBI] 6.97991e-06
CNDP2 [NCBI] 6.97991e-06
PIGB [NCBI] 6.97991e-06
RP6-213H19.1 [NCBI] 6.97991e-06
CLK2 [NCBI] 6.97991e-06
ZWINT [NCBI] 6.97991e-06
B4GALT7 [NCBI] 6.97991e-06
ZNF133 [NCBI] 6.97991e-06
C7orf11 [NCBI] 6.97991e-06
LAP3 [NCBI] 6.97991e-06
COG7 [NCBI] 6.97991e-06
MAP7 [NCBI] 6.97991e-06
RAB3GAP1 [NCBI] 6.97991e-06
FERMT3 [NCBI] 6.97991e-06
MRPS22 [NCBI] 6.97991e-06
SLC7A4 [NCBI] 6.97991e-06
COL18A1 [NCBI] 6.96102e-06
CENPB [NCBI] 6.90335e-06
ATR [NCBI] 6.79328e-06
BBS5 [NCBI] 6.54916e-06
PPP1R14C [NCBI] 6.54916e-06
RILP [NCBI] 6.54916e-06
UBR2 [NCBI] 6.54916e-06
VPS53 [NCBI] 6.54916e-06
CACNA2D3 [NCBI] 6.54916e-06
GPC4 [NCBI] 6.54916e-06
FERMT2 [NCBI] 6.54916e-06
RPH3AL [NCBI] 6.54916e-06
ARHGAP6 [NCBI] 6.54916e-06
CLCF1 [NCBI] 6.54916e-06
MESDC2 [NCBI] 6.54916e-06
RDH10 [NCBI] 6.54916e-06
LEFTY2 [NCBI] 6.54916e-06
TAOK1 [NCBI] 6.54916e-06
LHFPL5 [NCBI] 6.54916e-06
MYH3 [NCBI] 6.54916e-06
NDUFB9 [NCBI] 6.54916e-06
NDUFA8 [NCBI] 6.54916e-06
NPAS3 [NCBI] 6.54916e-06
JAG1 [NCBI] 6.46277e-06
SLC26A4 [NCBI] 6.37943e-06
ERF [NCBI] 6.33167e-06
AUTS2 [NCBI] 6.20652e-06
NFIA [NCBI] 6.20652e-06
HOXA3 [NCBI] 6.20652e-06
GNB1L [NCBI] 6.20652e-06
ALDH1A2 [NCBI] 6.20652e-06
CHRNG [NCBI] 6.20652e-06
SUPT16H [NCBI] 6.20652e-06
NDUFS1 [NCBI] 6.20652e-06
DGCR2 [NCBI] 6.20652e-06
HNRNPAB [NCBI] 6.20652e-06
ARNT2 [NCBI] 6.20652e-06
BARX1 [NCBI] 6.20652e-06
HES1 [NCBI] 6.14786e-06
FANCG [NCBI] 6.10362e-06
ELN [NCBI] 5.97467e-06
LIFR [NCBI] 5.97467e-06
CDKN1A [NCBI] 5.97261e-06
EFEMP2 [NCBI] 5.92212e-06
ABR [NCBI] 5.92212e-06
RPL13 [NCBI] 5.92212e-06
NPHP3 [NCBI] 5.92212e-06
ABCB6 [NCBI] 5.92212e-06
FANCB [NCBI] 5.92212e-06
NR2E1 [NCBI] 5.92212e-06
DGKD [NCBI] 5.92212e-06
INCENP [NCBI] 5.92212e-06
DACH1 [NCBI] 5.92212e-06
HCCS [NCBI] 5.92212e-06
POMT2 [NCBI] 5.92212e-06
DMRT2 [NCBI] 5.92212e-06
EVC2 [NCBI] 5.92212e-06
EXOC4 [NCBI] 5.92212e-06
SMARCD1 [NCBI] 5.92212e-06
KIAA1199 [NCBI] 5.92212e-06
RERE [NCBI] 5.92212e-06
ETS2 [NCBI] 5.73245e-06
CTBP2 [NCBI] 5.67909e-06
HOXB8 [NCBI] 5.67909e-06
OSR1 [NCBI] 5.67909e-06
SUOX [NCBI] 5.67909e-06
MYH8 [NCBI] 5.67909e-06
FAM57A [NCBI] 5.67909e-06
LLGL1 [NCBI] 5.67909e-06
GNPAT [NCBI] 5.67909e-06
BBS7 [NCBI] 5.67909e-06
PCSK5 [NCBI] 5.67909e-06
CLDN16 [NCBI] 5.67909e-06
SEMA3E [NCBI] 5.67909e-06
CDK8 [NCBI] 5.67909e-06
CLCN1 [NCBI] 5.61842e-06
DPH1 [NCBI] 5.46701e-06
CRELD1 [NCBI] 5.46701e-06
DRG1 [NCBI] 5.46701e-06
MGAT2 [NCBI] 5.46701e-06
GOT1 [NCBI] 5.46701e-06
ADNP [NCBI] 5.46701e-06
DAG1 [NCBI] 5.4225e-06
ENG [NCBI] 5.34448e-06
IGF2 [NCBI] 5.28231e-06
LDHB [NCBI] 5.27895e-06
SMARCC2 [NCBI] 5.27895e-06
RPLP0 [NCBI] 5.27895e-06
SIX6 [NCBI] 5.27895e-06
FKBP1A [NCBI] 5.27895e-06
NLGN4X [NCBI] 5.27895e-06
ADK [NCBI] 5.27895e-06
VCX [NCBI] 5.27895e-06
GTF2H4 [NCBI] 5.27895e-06
HOXA9 [NCBI] 5.20238e-06
MTA2 [NCBI] 5.11007e-06
GTF2H2 [NCBI] 5.11007e-06
FOXJ1 [NCBI] 5.11007e-06
CHRNB1 [NCBI] 5.11007e-06
SRR [NCBI] 5.11007e-06
SLC35C1 [NCBI] 5.11007e-06
NPR2 [NCBI] 5.11007e-06
LPIN2 [NCBI] 5.11007e-06
EIF2B1 [NCBI] 5.11007e-06
ZFPM2 [NCBI] 5.11007e-06
DSP [NCBI] 5.0761e-06
CASP3 [NCBI] 5.06688e-06
USH1G [NCBI] 4.95688e-06
AGPS [NCBI] 4.95688e-06
PLOD2 [NCBI] 4.95688e-06
BCS1L [NCBI] 4.95688e-06
NDUFV1 [NCBI] 4.95688e-06
SEPT4 [NCBI] 4.95688e-06
ACADS [NCBI] 4.95688e-06
RPL14 [NCBI] 4.95688e-06
DNAI1 [NCBI] 4.95688e-06
EIF2B2 [NCBI] 4.95688e-06
GRIA3 [NCBI] 4.95688e-06
CNTFR [NCBI] 4.95688e-06
HIST3H3 [NCBI] 4.95688e-06
TGM1 [NCBI] 4.92578e-06
ZNF148 [NCBI] 4.81674e-06
DNM1L [NCBI] 4.81674e-06
HOXB6 [NCBI] 4.81674e-06
SHFM1 [NCBI] 4.81674e-06
SCO1 [NCBI] 4.81674e-06
SRPK1 [NCBI] 4.81674e-06
MLPH [NCBI] 4.81674e-06
ALPI [NCBI] 4.81674e-06
FANCA [NCBI] 4.78312e-06
ESD [NCBI] 4.75544e-06
EGFR [NCBI] 4.71155e-06
MATN1 [NCBI] 4.69608e-06
HOXC8 [NCBI] 4.68765e-06
IFI44 [NCBI] 4.68765e-06
DHCR24 [NCBI] 4.68765e-06
PRG4 [NCBI] 4.68765e-06
RAPSN [NCBI] 4.68765e-06
SPTBN1 [NCBI] 4.68765e-06
FANCD2 [NCBI] 4.64743e-06
SERPINF2 [NCBI] 4.56802e-06
LEMD3 [NCBI] 4.56802e-06
SMARCA1 [NCBI] 4.56802e-06
ACCN1 [NCBI] 4.56802e-06
SMARCC1 [NCBI] 4.56802e-06
EIF2B4 [NCBI] 4.56802e-06
SNRPN [NCBI] 4.5435e-06
GATA3 [NCBI] 4.46808e-06
FLII [NCBI] 4.45658e-06
FGF13 [NCBI] 4.45658e-06
SLC4A11 [NCBI] 4.45658e-06
IL1RAPL1 [NCBI] 4.45658e-06
SIM1 [NCBI] 4.45658e-06
ERCC1 [NCBI] 4.45623e-06
FGF3 [NCBI] 4.41893e-06
GK [NCBI] 4.35232e-06
CNTNAP2 [NCBI] 4.35232e-06
JAG2 [NCBI] 4.35232e-06
KRT3 [NCBI] 4.35232e-06
KPNB1 [NCBI] 4.35232e-06
LRIG1 [NCBI] 4.35232e-06
LMBR1 [NCBI] 4.35232e-06
CITED2 [NCBI] 4.35232e-06
MCC [NCBI] 4.35232e-06
RBBP4 [NCBI] 4.35232e-06
PAX8 [NCBI] 4.32326e-06
COX10 [NCBI] 4.25438e-06
NR2F2 [NCBI] 4.25438e-06
HOXC6 [NCBI] 4.25438e-06
ONECUT1 [NCBI] 4.25438e-06
LDB3 [NCBI] 4.25438e-06
CTNND1 [NCBI] 4.18588e-06
NRL [NCBI] 4.16206e-06
MPI [NCBI] 4.16206e-06
EIF2B5 [NCBI] 4.16206e-06
GLDC [NCBI] 4.16206e-06
PRRX1 [NCBI] 4.16206e-06
MSX2 [NCBI] 4.16206e-06
LHX4 [NCBI] 4.16206e-06
PGM1 [NCBI] 4.16206e-06
COMT [NCBI] 4.16199e-06
CTBP1 [NCBI] 4.07477e-06
PEPD [NCBI] 4.07477e-06
CACNA2D1 [NCBI] 4.07477e-06
RXFP2 [NCBI] 4.07477e-06
LRPAP1 [NCBI] 4.07477e-06
CCNH [NCBI] 4.07477e-06
DLX5 [NCBI] 4.07477e-06
ZBTB17 [NCBI] 4.07477e-06
TSC2 [NCBI] 4.03415e-06
AHR [NCBI] 3.99839e-06
LRP2 [NCBI] 3.992e-06
RBBP7 [NCBI] 3.992e-06
PROP1 [NCBI] 3.992e-06
KRT16 [NCBI] 3.992e-06
LPIN1 [NCBI] 3.992e-06
ABHD5 [NCBI] 3.992e-06
MYO5A [NCBI] 3.992e-06
KIF21A [NCBI] 3.992e-06
HAX1 [NCBI] 3.91333e-06
PRL [NCBI] 3.86245e-06
MEF2C [NCBI] 3.83838e-06
INVS [NCBI] 3.83838e-06
CHD4 [NCBI] 3.83838e-06
SCN2A [NCBI] 3.83838e-06
BBS2 [NCBI] 3.83838e-06
HSPG2 [NCBI] 3.83838e-06
SOS1 [NCBI] 3.83838e-06
IGFBP1 [NCBI] 3.83169e-06
PPP1R13L [NCBI] 3.76682e-06
CCM2 [NCBI] 3.76682e-06
CACNA1C [NCBI] 3.76682e-06
KPNA2 [NCBI] 3.76682e-06
IGFBP7 [NCBI] 3.76682e-06
DCX [NCBI] 3.76682e-06
TCIRG1 [NCBI] 3.76682e-06
ATP7A [NCBI] 3.69895e-06
ZIC2 [NCBI] 3.69838e-06
FERMT1 [NCBI] 3.69838e-06
KLK5 [NCBI] 3.69838e-06
MGP [NCBI] 3.64413e-06
NEU1 [NCBI] 3.6328e-06
FZD4 [NCBI] 3.56987e-06
WNT7A [NCBI] 3.56987e-06
TCF4 [NCBI] 3.56987e-06
NR2E3 [NCBI] 3.56987e-06
TERF1 [NCBI] 3.56987e-06
TIMM8A [NCBI] 3.50938e-06
SOST [NCBI] 3.50938e-06
SLC25A4 [NCBI] 3.50938e-06
DLX4 [NCBI] 3.50938e-06
PER3 [NCBI] 3.50938e-06
MYO6 [NCBI] 3.45117e-06
TYRO3 [NCBI] 3.45117e-06
TRAPPC2 [NCBI] 3.45117e-06
PCDH15 [NCBI] 3.45117e-06
EFNB1 [NCBI] 3.45117e-06
MEF2A [NCBI] 3.45117e-06
FANCE [NCBI] 3.45117e-06
DMRT1 [NCBI] 3.45117e-06
IGF1R [NCBI] 3.43623e-06
GNB2L1 [NCBI] 3.39507e-06
ATN1 [NCBI] 3.39507e-06
IL17RA [NCBI] 3.39507e-06
NODAL [NCBI] 3.34095e-06
AKT3 [NCBI] 3.34095e-06
PFN1 [NCBI] 3.34095e-06
CPT2 [NCBI] 3.34095e-06
GAMT [NCBI] 3.34095e-06
SREBF1 [NCBI] 3.33856e-06
MRE11A [NCBI] 3.32266e-06
CDKN1C [NCBI] 3.32266e-06
ACAN [NCBI] 3.28868e-06
NEFL [NCBI] 3.27558e-06
AFP [NCBI] 3.27029e-06
CRK [NCBI] 3.23814e-06
COL4A1 [NCBI] 3.23814e-06
NOX4 [NCBI] 3.23814e-06
IGF2BP3 [NCBI] 3.18922e-06
CDH23 [NCBI] 3.18922e-06
GRB7 [NCBI] 3.18922e-06
PLAGL1 [NCBI] 3.18922e-06
CTSK [NCBI] 3.0959e-06
SKI [NCBI] 3.05132e-06
HOXA10 [NCBI] 3.05132e-06
ACTB [NCBI] 3.05132e-06
MLLT3 [NCBI] 3.05132e-06
SDC2 [NCBI] 3.05132e-06
CDC20 [NCBI] 3.05132e-06
LBR [NCBI] 3.05132e-06
C10orf2 [NCBI] 3.05132e-06
SLC6A6 [NCBI] 3.05132e-06
KAT2B [NCBI] 3.00803e-06
LAMC1 [NCBI] 3.00803e-06
CLDN5 [NCBI] 3.00803e-06
TEK [NCBI] 2.96597e-06
PKD1 [NCBI] 2.88644e-06
FANCF [NCBI] 2.88525e-06
VASP [NCBI] 2.88525e-06
GNE [NCBI] 2.88525e-06
PDX1 [NCBI] 2.88525e-06
GPR143 [NCBI] 2.84649e-06
FBLN1 [NCBI] 2.80873e-06
NFKB2 [NCBI] 2.80873e-06
VWF [NCBI] 2.77609e-06
PDGFC [NCBI] 2.77192e-06
GFAP [NCBI] 2.77138e-06
PTPN1 [NCBI] 2.73602e-06
TCOF1 [NCBI] 2.70099e-06
SUMO1 [NCBI] 2.70099e-06
TSPY1 [NCBI] 2.66678e-06
FLI1 [NCBI] 2.63337e-06
S100A2 [NCBI] 2.63337e-06
RAB27A [NCBI] 2.56881e-06
MDM4 [NCBI] 2.53759e-06
CCRK [NCBI] 2.50704e-06
LOX [NCBI] 2.47715e-06
SNAI2 [NCBI] 2.4613e-06
YY1 [NCBI] 2.44787e-06
OAT [NCBI] 2.4192e-06
FLCN [NCBI] 2.4192e-06
OCRL [NCBI] 2.39111e-06
GALNS [NCBI] 2.39111e-06
RFC1 [NCBI] 2.33657e-06
PLEK [NCBI] 2.33657e-06
NAGA [NCBI] 2.33657e-06
TNFRSF13B [NCBI] 2.33657e-06
SMO [NCBI] 2.33657e-06
FOXP2 [NCBI] 2.31009e-06
TFAP2A [NCBI] 2.31009e-06
PBX1 [NCBI] 2.31009e-06
RCAN1 [NCBI] 2.28411e-06
MTPN [NCBI] 2.25862e-06
EDNRB [NCBI] 2.2336e-06
CTSA [NCBI] 2.2336e-06
ITGB4 [NCBI] 2.11501e-06
CTNNB1 [NCBI] 2.11462e-06
PDGFB [NCBI] 2.07038e-06
HMBS [NCBI] 2.02722e-06
CBX4 [NCBI] 2.02722e-06
SOX10 [NCBI] 1.9252e-06
SCN1A [NCBI] 1.9252e-06
PDGFA [NCBI] 1.90209e-06
ARSA [NCBI] 1.88656e-06
IKBKG [NCBI] 1.72605e-06
GJB6 [NCBI] 1.70944e-06
GLI1 [NCBI] 1.69306e-06
PANK2 [NCBI] 1.69306e-06
PCSK9 [NCBI] 1.67689e-06
WNT1 [NCBI] 1.61432e-06
GAPDH [NCBI] 1.58636e-06
INSL3 [NCBI] 1.56948e-06
HNF1B [NCBI] 1.55328e-06
AXIN1 [NCBI] 1.54051e-06
NKX2-1 [NCBI] 1.51448e-06
KAL1 [NCBI] 1.51225e-06
PTH [NCBI] 1.49977e-06
POLG [NCBI] 1.45774e-06
COL3A1 [NCBI] 1.43144e-06
RBP4 [NCBI] 1.39312e-06
UBE3A [NCBI] 1.39312e-06
TIMP3 [NCBI] 1.39312e-06
MPZ [NCBI] 1.33209e-06
CBL [NCBI] 1.30861e-06
SLC7A9 [NCBI] 1.29707e-06
PREPL [NCBI] 1.29707e-06
SFN [NCBI] 1.28564e-06
TYR [NCBI] 1.28564e-06
NPPA [NCBI] 1.28564e-06
CREB1 [NCBI] 1.28564e-06
NGF [NCBI] 1.23537e-06
KRT5 [NCBI] 1.2196e-06
RUNX2 [NCBI] 1.19849e-06
RAD50 [NCBI] 1.18809e-06
RELN [NCBI] 1.17781e-06
DSG1 [NCBI] 1.17781e-06
FANCC [NCBI] 1.16762e-06
RBL2 [NCBI] 1.15754e-06
BCHE [NCBI] 1.1279e-06
PAX5 [NCBI] 1.07118e-06
AMH [NCBI] 1.07118e-06
CD68 [NCBI] 1.06987e-06
TCF7L2 [NCBI] 1.06204e-06
NF1 [NCBI] 1.04403e-06
FMR1 [NCBI] 1.02937e-06
PML [NCBI] 1.00049e-06
BMPR2 [NCBI] 9.75259e-07
KRT14 [NCBI] 9.75259e-07
VCAN [NCBI] 9.58847e-07
EPHX1 [NCBI] 9.0368e-07
MTHFR [NCBI] 8.99627e-07
PLG [NCBI] 8.66319e-07
TGFB1 [NCBI] 8.56222e-07
PMS2 [NCBI] 8.44671e-07
RPA1 [NCBI] 8.30546e-07
HFE [NCBI] 8.11306e-07
MSH2 [NCBI] 7.67226e-07
MAP2 [NCBI] 7.56988e-07
DMD [NCBI] 7.56988e-07
CFTR [NCBI] 7.52922e-07
SMN2 [NCBI] 7.01591e-07
CAT [NCBI] 6.99867e-07
APAF1 [NCBI] 6.72513e-07
COMP [NCBI] 6.55615e-07
CDK5 [NCBI] 6.33699e-07
DPP4 [NCBI] 6.28327e-07
HDAC1 [NCBI] 6.1246e-07
CXCL10 [NCBI] 6.07253e-07
MAPT [NCBI] 6.02387e-07
XPA [NCBI] 5.91872e-07
CYP1B1 [NCBI] 5.91872e-07
TLR4 [NCBI] 5.31017e-07
COL1A1 [NCBI] 5.20057e-07
GRB2 [NCBI] 5.20057e-07
ADM [NCBI] 4.55926e-07
FOXO1 [NCBI] 4.43936e-07
EGF [NCBI] 4.28661e-07
CREBBP [NCBI] 4.28358e-07
IL6ST [NCBI] 4.24535e-07
MPL [NCBI] 4.16972e-07
SMAD3 [NCBI] 3.98544e-07
APC [NCBI] 3.45414e-07
FGF23 [NCBI] 3.31218e-07
SERPINF1 [NCBI] 3.0988e-07
BMP7 [NCBI] 3.0988e-07
MBP [NCBI] 2.92567e-07
ETV6 [NCBI] 2.73032e-07
IKBKE [NCBI] 2.65015e-07
AR [NCBI] 2.31833e-07
G6PD [NCBI] 2.17236e-07
JAK2 [NCBI] 2.16075e-07
CHUK [NCBI] 1.89716e-07
IKBKB [NCBI] 1.85583e-07
XRCC5 [NCBI] 1.85583e-07
CNTF [NCBI] 1.73556e-07
ADA [NCBI] 1.29485e-07
PRKDC [NCBI] 1.24315e-07
BTK [NCBI] 1.18141e-07
PRKCB [NCBI] 1.12169e-07
KRT7 [NCBI] 9.54189e-08
WAS [NCBI] 8.8937e-08
GJB1 [NCBI] 7.79744e-08
TFPI [NCBI] 6.78838e-08
BACE1 [NCBI] 5.92053e-08
LEP [NCBI] 5.86273e-08
TF [NCBI] 5.29019e-08
NOD2 [NCBI] 5.10979e-08
CCR5 [NCBI] 4.75214e-08
ACHE [NCBI] 4.43451e-08
SLC2A1 [NCBI] 3.55171e-08
MLL [NCBI] 2.73948e-08
IGF1 [NCBI] 2.67013e-08
KRT20 [NCBI] 1.44559e-08
BDNF [NCBI] 1.36683e-08
ATM [NCBI] 1.07575e-08
SMAD4 [NCBI] 6.72627e-09
DHFR [NCBI] 5.60351e-09
IL8 [NCBI] 2.33775e-09
AGT [NCBI] 8.9292e-10
CHEK2 [NCBI] 8.9292e-10
TLR2 [NCBI] 7.05975e-10
BCR [NCBI] 4.25779e-10
BMP2 [NCBI] 2.75176e-10




OMIM


OMIM Link Information
gain
01
kabuki syndrome [NCBI] 0.0113158
VRNI [NCBI] 0.0106213
SRS [NCBI] 0.00926161
hypertelorism with esophageal abnormality and hypospadias [NCBI] 0.00861466
FRNS [NCBI] 0.00816515
SLE [NCBI] 0.00696281
NLS [NCBI] 0.00621456
pena-shokeir syndrome, type i [NCBI] 0.00442351
schinzel-giedion midface-retraction syndrome [NCBI] 0.00403199
CF [NCBI] 0.0037929
IS1 [NCBI] 0.00356597
EEC1 [NCBI] 0.00353113
dandy-walker-like malformation with atrioventricular septal defect [NCBI] 0.00329292
AOS [NCBI] 0.00321717
mohr syndrome [NCBI] 0.00310339
urogenital adysplasia, hereditary [NCBI] 0.00284682
OFD4 [NCBI] 0.00279677
SMS [NCBI] 0.00256674
WHS [NCBI] 0.00237822
corpus callosum, agenesis of, with facial anomalies and robin sequence [NCBI] 0.00231094
JBTS1 [NCBI] 0.00228754
acromelic frontonasal dysostosis [NCBI] 0.00198044
MKS2 [NCBI] 0.00198044
AIC [NCBI] 0.0019533
coffin-siris syndrome [NCBI] 0.0019533
dubowitz syndrome [NCBI] 0.00191848
varadi-papp syndrome [NCBI] 0.00190425
marden-walker syndrome [NCBI] 0.00188598
cranioectodermal dysplasia [NCBI] 0.00185753
popliteal pterygium syndrome, lethal type [NCBI] 0.00185753
POADS [NCBI] 0.00179254
cayler cardiofacial syndrome [NCBI] 0.00178616
MKS1 [NCBI] 0.00177431
short rib-polydactyly syndrome, type ii [NCBI] 0.0017616
charge syndrome [NCBI] 0.0016831
deafness, congenital, and onychodystrophy, recessive form [NCBI] 0.00163998
costello syndrome [NCBI] 0.00155551
syndactyly, type i, with microcephaly and mental retardation [NCBI] 0.00154958
hypertelorism, teebi type [NCBI] 0.00154958
larsen syndrome, recessive [NCBI] 0.00154958
robinow syndrome, autosomal dominant [NCBI] 0.0014207
geleophysic dysplasia [NCBI] 0.00141197
ear, patella, short stature syndrome [NCBI] 0.00141197
campomelia, cumming type [NCBI] 0.0013198
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia [NCBI] 0.00131414
megacystis-microcolon-intestinal hypoperistalsis syndrome [NCBI] 0.00126123
HFM [NCBI] 0.00122608
RBS [NCBI] 0.00120204
ACLS [NCBI] 0.00115585
TBS [NCBI] 0.00115354
CES [NCBI] 0.0011434
SHFLD1 [NCBI] 0.00113196
DBQD [NCBI] 0.00113196
ABS [NCBI] 0.00110586
PHS [NCBI] 0.00108537
MKKS [NCBI] 0.0010787
lymphedema, microcephaly, chorioretinopathy syndrome [NCBI] 0.0010617
SLOS [NCBI] 0.00104033
COH1 [NCBI] 0.00103928
SHFM2 [NCBI] 0.00103266
skin creases, multiple benign ring-shaped, of limbs [NCBI] 0.0010232
tibia, hypoplasia of, with polydactyly [NCBI] 0.00100432
renal hamartomas, nephroblastomatosis, and fetal gigantism [NCBI] 0.00100432
FGS2 [NCBI] 0.000989668
mental retardation with optic atrophy, deafness, and seizures [NCBI] 0.000989668
faciodigitogenital syndrome, recessive [NCBI] 0.000989668
adducted thumbs syndrome [NCBI] 0.000989668
mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly [NCBI] 0.000989668
CLS [NCBI] 0.000982992
SHFM1 [NCBI] 0.000968632
GCPS [NCBI] 0.000948094
cardiofaciocutaneous syndrome [NCBI] 0.00094774
BWCNS [NCBI] 0.00094696
kbg syndrome [NCBI] 0.00094696
SGBS1 [NCBI] 0.00094131
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging [NCBI] 0.000928666
MG [NCBI] 0.000912216
ODDD [NCBI] 0.000905007
MCOPS1 [NCBI] 0.000891349
OKS [NCBI] 0.000886077
JBS [NCBI] 0.000884459
hennekam lymphangiectasia-lymphedema syndrome [NCBI] 0.00087951
gapo syndrome [NCBI] 0.00087951
HOS [NCBI] 0.000819351
c syndrome [NCBI] 0.000792746
BGS [NCBI] 0.000784779
fraser syndrome [NCBI] 0.00078328
DGS [NCBI] 0.000783191
MBS [NCBI] 0.000781389
microcephalic osteodysplastic primordial dwarfism, type iii [NCBI] 0.000760422
OSCS [NCBI] 0.000760422
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth [NCBI] 0.000760083
laurin-sandrow syndrome [NCBI] 0.000760083
holoprosencephaly [NCBI] 0.00073927
faciogenital dysplasia [NCBI] 0.000737337
intestinal atresia, multiple [NCBI] 0.000713316
velocardiofacial syndrome [NCBI] 0.000698181
MDLS [NCBI] 0.00066644
PCA [NCBI] 0.000662878
THAS [NCBI] 0.000662878
hypomandibular faciocranial dysostosis [NCBI] 0.000659656
cerebrooculonasal syndrome [NCBI] 0.000659656
hypercalciuria, absorptive, 1 [NCBI] 0.000659656
anorectal anomalies [NCBI] 0.000659656
cdags syndrome [NCBI] 0.000659656
oculopalatocerebral syndrome [NCBI] 0.000659656
brooks-wisniewski-brown syndrome [NCBI] 0.000659656
acropectorovertebral dysplasia, f-form of [NCBI] 0.000659656
lung agenesis [NCBI] 0.000659656
mesomelia-synostoses syndrome [NCBI] 0.000659656
otoonychoperoneal syndrome [NCBI] 0.000659656
burn-mckeown syndrome [NCBI] 0.000659656
PRS [NCBI] 0.000659656
oculootofacial dysplasia [NCBI] 0.000659656
RIEG2 [NCBI] 0.000656569
genitopatellar syndrome [NCBI] 0.000656569
terminal osseous dysplasia and pigmentary defects [NCBI] 0.000656569
renal-hepatic-pancreatic dysplasia with dandy-walker cyst [NCBI] 0.000656569
adducted thumb-clubfoot syndrome [NCBI] 0.000656569
SHFM3 [NCBI] 0.00064523
thrombocytopenic purpura, autoimmune [NCBI] 0.000641636
constricting bands, congenital [NCBI] 0.000641339
robinow syndrome, autosomal recessive [NCBI] 0.000640459
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases [NCBI] 0.000629827
short rib-polydactyly syndrome, type i [NCBI] 0.000629827
MCOPS6 [NCBI] 0.000629827
microphthalmia with limb anomalies [NCBI] 0.000629827
OPD2 [NCBI] 0.000613344
walker-warburg syndrome [NCBI] 0.000610008
PKS [NCBI] 0.000592322
megalocornea-mental retardation syndrome [NCBI] 0.000581585
kenny-caffey syndrome, type 2 [NCBI] 0.000581585
poland syndrome [NCBI] 0.000555868
hypertrichotic osteochondrodysplasia [NCBI] 0.000530121
dyssegmental dysplasia, rolland-desbuquois type [NCBI] 0.000530121
hydrolethalus syndrome 1 [NCBI] 0.000526083
DA2A [NCBI] 0.000516873
ZLS [NCBI] 0.000512309
SHFM5 [NCBI] 0.000501706
lateral meningocele syndrome [NCBI] 0.000501706
hemifacial microsomia with radial defects [NCBI] 0.000501706
dysgnathia complex [NCBI] 0.000501706
klippel-trenaunay-weber syndrome [NCBI] 0.000495268
campomelic dysplasia [NCBI] 0.000493349
multiple pterygium syndrome, lethal type [NCBI] 0.00049204
RIEG1 [NCBI] 0.000487518
SCDO1 [NCBI] 0.000485839
APC [NCBI] 0.000482268
UMS [NCBI] 0.000481511
vacterl association with hydrocephalus, x-linked [NCBI] 0.000475524
ulna and fibula, absence of, with severe limb deficiency [NCBI] 0.000474695
megalencephaly-cutis marmorata telangiectatica congenita [NCBI] 0.000474695
microcephalic osteodysplastic primordial dwarfism, type i [NCBI] 0.000470764
alport syndrome, autosomal dominant [NCBI] 0.000466802
FMD [NCBI] 0.000452187
microcephaly, hiatus hernia, and nephrotic syndrome [NCBI] 0.000450439
TRPS2 [NCBI] 0.000447195
BPES [NCBI] 0.000446223
GLI3 [NCBI] 0.000444102
oculocerebrocutaneous syndrome [NCBI] 0.000442005
JBS [NCBI] 0.000435851
FGFR2 [NCBI] 0.000426268
weaver syndrome [NCBI] 0.000425636
COFS1 [NCBI] 0.000423325
pitt syndrome [NCBI] 0.000423325
LRS1 [NCBI] 0.000423325
NHS [NCBI] 0.000420985
disorganization, mouse, homolog of [NCBI] 0.000416444
PPS [NCBI] 0.000414005
PAX2 [NCBI] 0.000400418
JBTS2 [NCBI] 0.000397455
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina [NCBI] 0.000397455
fibrochondrogenesis [NCBI] 0.000397455
nipples, supernumerary [NCBI] 0.000397455
hand-foot-uterus syndrome [NCBI] 0.000395143
MCOPS9 [NCBI] 0.000392246
shprintzen-goldberg craniosynostosis syndrome [NCBI] 0.000392246
seckel syndrome 1 [NCBI] 0.000390695
MVA [NCBI] 0.000390695
SALL1 [NCBI] 0.000389511
OFD1 [NCBI] 0.000383031
PITX2 [NCBI] 0.000382783
diaphragmatic hernia, congenital [NCBI] 0.000381743
axenfeld-rieger anomaly with cardiac defects and sensorineural hearing loss [NCBI] 0.000379999
kaufman oculocerebrofacial syndrome [NCBI] 0.000379999
OFD8 [NCBI] 0.000379999
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum [NCBI] 0.000379999
palpebral coloboma-lipoma syndrome [NCBI] 0.000379999
cerebrofaciothoracic dysplasia [NCBI] 0.000379999
nablus mask-like facial syndrome [NCBI] 0.000379999
DIH2 [NCBI] 0.000379999
SPG9 [NCBI] 0.000379999
OFD5 [NCBI] 0.000379999
macrocephaly with multiple epiphyseal dysplasia and distinctive facies [NCBI] 0.000379999
OFD3 [NCBI] 0.000379999
mesomelic dysplasia, kantaputra type [NCBI] 0.000379999
OPD1 [NCBI] 0.000376779
LMS [NCBI] 0.000376779
ALGS1 [NCBI] 0.000373122
FFS [NCBI] 0.000368037
VEGF [NCBI] 0.000367402
palatopharyngeal incompetence [NCBI] 0.000366044
BOR1 [NCBI] 0.000348634
adult syndrome [NCBI] 0.000347985
LADD [NCBI] 0.000347985
EEC3 [NCBI] 0.000346117
TNF [NCBI] 0.000345974
lenz-majewski hyperostotic dwarfism [NCBI] 0.000342821
DRRS [NCBI] 0.000333006
currarino syndrome [NCBI] 0.00033078
congenital hemidysplasia with ichthyosiform erythroderma and limb defects [NCBI] 0.00033078
van der woude syndrome 2 [NCBI] 0.000329767
wittwer syndrome [NCBI] 0.000329767
BDA4 [NCBI] 0.000329767
FGS3 [NCBI] 0.000329767
abidi x-linked mental retardation syndrome [NCBI] 0.000329767
cataract, ataxia, short stature, and mental retardation [NCBI] 0.000329767
brachydactyly, type a5, with nail dysplasia [NCBI] 0.000329767
SCKL2 [NCBI] 0.000329767
aphalangia, partial, with syndactyly and duplication of metatarsal iv [NCBI] 0.000329767
chiari malformation type ii [NCBI] 0.000329767
MCS [NCBI] 0.000329767
broad terminal phalanges, familial [NCBI] 0.000329767
MRXS11 [NCBI] 0.000329767
SPG24 [NCBI] 0.000329767
microcephalic osteodysplastic primordial dwarfism with tooth abnormalities [NCBI] 0.000329767
coloboma-obesity-hypogenitalism-mental retardation syndrome [NCBI] 0.000329767
oculorenocerebellar syndrome [NCBI] 0.000329767
MRXS12 [NCBI] 0.000329767
diamond-blackfan anemia with microtia and cleft palate [NCBI] 0.000329767
umbilicus, familial flat [NCBI] 0.000329767
acropectoral syndrome [NCBI] 0.000329767
3q29 microdeletion syndrome [NCBI] 0.000329767
triphalangeal thumb, nonopposable [NCBI] 0.000329767
SPOAN [NCBI] 0.000329767
mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration [NCBI] 0.000329767
short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting [NCBI] 0.000329767
leg, absence deformity of, with congenital cataract [NCBI] 0.000329767
heterotopia, periventricular, associated with chromosome 5p anomalies [NCBI] 0.000329767
SCKL3 [NCBI] 0.000329767
camptobrachydactyly [NCBI] 0.000329767
armfield x-linked mental retardation syndrome [NCBI] 0.000329767
FGS4 [NCBI] 0.000329767
polycystic kidney disease, potter type i, with microbrachycephaly, hypertelorism, and brachymelia [NCBI] 0.000329767
sotos syndrome [NCBI] 0.000327848
ATRX [NCBI] 0.000325833
murcs association [NCBI] 0.000321593
short syndrome [NCBI] 0.000321593
phace association [NCBI] 0.000321593
vacterl association with hydrocephalus [NCBI] 0.000321593
oeis complex [NCBI] 0.000321593
peho syndrome [NCBI] 0.000320304
ichthyosis follicularis, atrichia, and photophobia syndrome [NCBI] 0.000320304
pseudotrisomy 13 syndrome [NCBI] 0.000320088
vater association [NCBI] 0.000320088
c-like syndrome [NCBI] 0.000316975
multiple pterygium syndrome, escobar variant [NCBI] 0.000315681
cerebrocostomandibular syndrome [NCBI] 0.000315681
SHH [NCBI] 0.000308399
TBX3 [NCBI] 0.000307637
CHD7 [NCBI] 0.000304172
MADA [NCBI] 0.000303617
ZEB2 [NCBI] 0.000303052
SJS1 [NCBI] 0.000301904
STL1 [NCBI] 0.000301046
RPS6KA3 [NCBI] 0.000299482
TBX5 [NCBI] 0.000295891
TP73L [NCBI] 0.00029499
ablepharon-macrostomia syndrome [NCBI] 0.000293808
martsolf syndrome [NCBI] 0.000293808
tight skin contracture syndrome, lethal [NCBI] 0.000290057
trichodentoosseous syndrome [NCBI] 0.000290057
SYNS1 [NCBI] 0.000285432
RNS [NCBI] 0.000285432
microcephalic osteodysplastic primordial dwarfism, type ii [NCBI] 0.000283247
CFNS [NCBI] 0.000273702
opitz syndrome [NCBI] 0.000272699
growth-mental deficiency syndrome of myhre [NCBI] 0.000272699
WS1 [NCBI] 0.000270308
abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism [NCBI] 0.000268803
FDH [NCBI] 0.000268733
NOG [NCBI] 0.000267715
leopard syndrome 1 [NCBI] 0.000267084
MEHMO [NCBI] 0.000264879
TKCR [NCBI] 0.000264879
nievergelt syndrome [NCBI] 0.000264879
omodysplasia [NCBI] 0.000264879
brachydactyly-mental retardation syndrome [NCBI] 0.000264879
rosselli-gulienetti syndrome [NCBI] 0.000264879
MCOPS4 [NCBI] 0.000264879
heterotaxy, visceral, 3, autosomal [NCBI] 0.000264879
bullous dystrophy, hereditary macular type [NCBI] 0.000264879
malpuech facial clefting syndrome [NCBI] 0.000264135
MLRD [NCBI] 0.000264135
holzgreve syndrome [NCBI] 0.000264135
arima syndrome [NCBI] 0.000260344
blepharocheilodontic syndrome [NCBI] 0.000260344
kohlschutter-tonz syndrome [NCBI] 0.000260344
BFLS [NCBI] 0.000259398
mowat-wilson syndrome [NCBI] 0.000259106
MRXHF1 [NCBI] 0.000257708
sc phocomelia syndrome [NCBI] 0.000255475
MCOPS7 [NCBI] 0.000254689
SALL4 [NCBI] 0.000246452
RP [NCBI] 0.000245153
progeroid syndrome, neonatal [NCBI] 0.000243117
SOX9 [NCBI] 0.00024034
lipomatosis, multiple [NCBI] 0.000238448
MAFD6 [NCBI] 0.000238448
TRPS1 [NCBI] 0.000234848
RSTS [NCBI] 0.000233408
VWS [NCBI] 0.000233408
HMI [NCBI] 0.000232608
GPC3 [NCBI] 0.000231076
TS [NCBI] 0.000229485
acheiropody [NCBI] 0.000228179
peters-plus syndrome [NCBI] 0.000226015
RAI1 [NCBI] 0.000221852
aglossia-adactylia [NCBI] 0.000220946
MCOPS2 [NCBI] 0.000216954
SYM1 [NCBI] 0.000216954
L1CAM [NCBI] 0.000213058
WBS [NCBI] 0.000212397
omodysplasia, generalized form [NCBI] 0.00021234
GO [NCBI] 0.00021234
gonadal dysgenesis, xx type, with deafness [NCBI] 0.00021234
fryns microphthalmia syndrome [NCBI] 0.000211299
digitorenocerebral syndrome [NCBI] 0.000211299
microcephaly with chemotactic defect and transient hypogammaglobulinemia [NCBI] 0.000211299
charge-like syndrome, x-linked [NCBI] 0.000211299
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia [NCBI] 0.000211299
mental retardation with epilepsy and characteristic facies [NCBI] 0.000211299
gombo syndrome [NCBI] 0.000211299
aminopterin syndrome sine aminopterin [NCBI] 0.000211299
por deficiency [NCBI] 0.000210415
floating-harbor syndrome [NCBI] 0.000210415
weill-marchesani syndrome, autosomal recessive [NCBI] 0.000210415
ALD [NCBI] 0.000209277
ALMS [NCBI] 0.000208347
feingold syndrome [NCBI] 0.000206893
TMEM67 [NCBI] 0.000202737
COH1 [NCBI] 0.000202737
CSA [NCBI] 0.000200526
thrombocytopenia-absent radius syndrome [NCBI] 0.000199755
ROR2 [NCBI] 0.000199556
young-simpson syndrome [NCBI] 0.000197516
donnai-barrow syndrome [NCBI] 0.000197516
marshall-smith syndrome [NCBI] 0.000197516
spondylocarpotarsal synostosis syndrome [NCBI] 0.000197516
acrofacial dysostosis syndrome of rodriguez [NCBI] 0.000197516
cerebrofrontofacial syndrome [NCBI] 0.000197516
CLPED1 [NCBI] 0.000197287
ankyloblepharon-ectodermal defects-cleft lip/palate [NCBI] 0.000197287
CMTC [NCBI] 0.000193249
HCFP1 [NCBI] 0.000192303
microcephaly with chorioretinopathy, autosomal recessive [NCBI] 0.000192303
splenic hypoplasia [NCBI] 0.000192303
microtia-anotia [NCBI] 0.000192303
VDEGS [NCBI] 0.000192303
exstrophy of bladder [NCBI] 0.000192303
bruck syndrome 1 [NCBI] 0.000192303
acromegaloid facial appearance syndrome [NCBI] 0.000192303
chromosome 10q deletion syndrome [NCBI] 0.000192303
ALMS1 [NCBI] 0.000192232
AFD1 [NCBI] 0.000191295
MCOPS3 [NCBI] 0.000189462
POR [NCBI] 0.000184849
FGD1 [NCBI] 0.000184849
papillorenal syndrome [NCBI] 0.000181812
sacral defect with anterior meningocele [NCBI] 0.000181812
rokitansky-kuster-hauser syndrome [NCBI] 0.000180245
frontonasal dysplasia [NCBI] 0.000180245
ALSG [NCBI] 0.000180245
carnitine palmitoyltransferase ii deficiency, lethal neonatal [NCBI] 0.000180245
JBTS3 [NCBI] 0.000180245
chiari malformation type i [NCBI] 0.000178756
HOXA13 [NCBI] 0.000178472
BBS [NCBI] 0.000178407
FLNA [NCBI] 0.000178321
HLXB9 [NCBI] 0.000177926
GSCL [NCBI] 0.000177926
SMMCI [NCBI] 0.000174736
PAX3 [NCBI] 0.00017324
gordon syndrome [NCBI] 0.000173159
cutis gyrata syndrome of beare and stevenson [NCBI] 0.000171375
acrorenal-mandibular syndrome [NCBI] 0.000171375
GCS1 [NCBI] 0.000171375
jejunal atresia with microcephaly and ocular anomalies [NCBI] 0.000171375
camptomelic syndrome, long-limb type [NCBI] 0.000171375
barber-say syndrome [NCBI] 0.000171375
MKS3 [NCBI] 0.000171375
hunter-mcalpine craniosynostosis syndrome [NCBI] 0.000171375
scalp-ear-nipple syndrome [NCBI] 0.000171375
hemangiomas, cavernous, of face and supraumbilical midline raphe [NCBI] 0.000171375
pterygia, mental retardation, and distinctive craniofacial features [NCBI] 0.000171375
asplenia with cardiovascular anomalies [NCBI] 0.00016816
POMT1 [NCBI] 0.000167832
HPE2 [NCBI] 0.000167068
corpus callosum, agenesis of [NCBI] 0.00016645
TTDN1 [NCBI] 0.000164894
ATRX [NCBI] 0.000159098
stuve-wiedemann syndrome [NCBI] 0.000159039
codas syndrome [NCBI] 0.000158467
humeroradial synostosis [NCBI] 0.000158467
alopecia-contractures-dwarfism mental retardation syndrome [NCBI] 0.000158467
neurofaciodigitorenal syndrome [NCBI] 0.000158467
acrocephalopolydactylous dysplasia [NCBI] 0.000158467
aarskog syndrome [NCBI] 0.000158467
retinopathy, pigmentary, and mental retardation [NCBI] 0.000158467
brachial amelia, forebrain defects, and facial clefts [NCBI] 0.000158467
carnevale syndrome [NCBI] 0.000158467
coloboma, uveal, with cleft lip and palate and mental retardation [NCBI] 0.000158467
otofaciocervical syndrome [NCBI] 0.000158467
hutterite cerebroosteonephrodysplasia syndrome [NCBI] 0.000158467
genitopalatocardiac syndrome [NCBI] 0.000158467
BDA6 [NCBI] 0.000158467
multiple pterygium syndrome, aslan type [NCBI] 0.000158467
lissencephaly type iii and bone dysplasia [NCBI] 0.000158467
tetra-amelia, x-linked [NCBI] 0.000158467
mental retardation, buenos aires type [NCBI] 0.000158467
NHS [NCBI] 0.000155399
GRB10 [NCBI] 0.000155399
SOX2 [NCBI] 0.000155332
SDS [NCBI] 0.000155324
hydrops-ectopic calcification-moth-eaten skeletal dysplasia [NCBI] 0.000154946
char syndrome [NCBI] 0.000154946
SNX3 [NCBI] 0.000152036
MKS1 [NCBI] 0.000152036
DLX3 [NCBI] 0.000152036
PQBP1 [NCBI] 0.000151802
NSD1 [NCBI] 0.000151802
marshall syndrome [NCBI] 0.000151733
weyers ulnar ray/oligodactyly syndrome [NCBI] 0.000150659
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly [NCBI] 0.000150659
weyers acrofacial dysostosis [NCBI] 0.000150659
AIHHT [NCBI] 0.000150659
TRPS3 [NCBI] 0.000150659
BRRS [NCBI] 0.000148937
MID1 [NCBI] 0.000147857
frank-ter haar syndrome [NCBI] 0.000147857
polycystic kidneys [NCBI] 0.000146118
HRD [NCBI] 0.000145082
KCS [NCBI] 0.000145082
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus [NCBI] 0.000145082
DMC [NCBI] 0.000145037
AAAS [NCBI] 0.000141581
NS1 [NCBI] 0.000141556
pierre robin sequence with pectus excavatum and rib and scapular anomalies [NCBI] 0.000141496
epiphyseal dysplasia, microcephaly, and nystagmus [NCBI] 0.000141496
OFD9 [NCBI] 0.000141496
hypertrichosis universalis [NCBI] 0.000141496
femur, unilateral bifid, with monodactylous ectrodactyly [NCBI] 0.000141496
kyphomelic dysplasia [NCBI] 0.00014077
GJA1 [NCBI] 0.000139862
PAFAH1B1 [NCBI] 0.00013984
waardenburg-shah syndrome [NCBI] 0.000138863
immunodeficiency-centromeric instability-facial anomalies syndrome [NCBI] 0.000138455
BLM [NCBI] 0.000137326
OD [NCBI] 0.00013651
diabetes mellitus, transient neonatal, 1 [NCBI] 0.00013651
chromosome 22q13.3 deletion syndrome [NCBI] 0.000136457
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome [NCBI] 0.000135711
TTDN1 [NCBI] 0.000135711
keutel syndrome [NCBI] 0.000135711
monosomy 1p36 syndrome [NCBI] 0.000135711
STL2 [NCBI] 0.000135711
valproate embryopathy, susceptibility to [NCBI] 0.000135711
MGS [NCBI] 0.000132394
HFH [NCBI] 0.000132394
histiocytosis with joint contractures and sensorineural deafness [NCBI] 0.000132394
angioma serpiginosum, x-linked [NCBI] 0.000132394
membranous cranial ossification, delayed [NCBI] 0.000132394
breast cancer, 11-22 translocation associated [NCBI] 0.000132394
knobloch syndrome, type ii [NCBI] 0.000132394
MRSD [NCBI] 0.000132394
acromicric dysplasia [NCBI] 0.000132394
SCAR5 [NCBI] 0.000132394
synostosis, carpal, with dysplastic elbow joints and brachydactyly [NCBI] 0.000132394
HHG [NCBI] 0.000132394
humeroradial synostosis [NCBI] 0.000132394
alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality [NCBI] 0.000132394
lelis syndrome [NCBI] 0.000132394
CORD1 [NCBI] 0.000132394
polysyndactyly, crossed [NCBI] 0.000132394
cryptophthalmos, unilateral or bilateral, isolated [NCBI] 0.000132394
fibromatosis, gingival, with progressive deafness [NCBI] 0.000132394
atresia of external auditory canal and conduction deafness [NCBI] 0.000132394
spastic diplegia, infantile type [NCBI] 0.000132394
preauricular fistulae, congenital [NCBI] 0.000132394
MCOPCT1 [NCBI] 0.000132394
HIC1 [NCBI] 0.000131487
CDLS1 [NCBI] 0.000131018
CUL4B [NCBI] 0.000129737
LDS [NCBI] 0.000128804
WZS [NCBI] 0.000128804
PRL [NCBI] 0.000128691
HRAS [NCBI] 0.000126941
PTH [NCBI] 0.000126753
lujan-fryns syndrome [NCBI] 0.000123948
situs inversus viscerum [NCBI] 0.000123948
RTD [NCBI] 0.000122832
RHS [NCBI] 0.000122832
brachycephaly, deafness, cataract, microstomia, and mental retardation [NCBI] 0.000122639
LIS2 [NCBI] 0.000122639
furlong syndrome: fs [NCBI] 0.000122639
say syndrome [NCBI] 0.000122639
ivic syndrome [NCBI] 0.000122639
MCOPS8 [NCBI] 0.000122639
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis [NCBI] 0.000122639
weill-marchesani syndrome, autosomal dominant [NCBI] 0.000122639
simpson-golabi-behmel syndrome, type 2 [NCBI] 0.000122639
PTLS [NCBI] 0.000122639
COL11A1 [NCBI] 0.000120083
EGFR [NCBI] 0.000119585
YWHAE [NCBI] 0.000118707
ATD1 [NCBI] 0.000117782
AT [NCBI] 0.000116592
PFM [NCBI] 0.00011571
EGF [NCBI] 0.000115228
PAX6 [NCBI] 0.000114548
catel-manzke syndrome [NCBI] 0.000114249
whistling face syndrome, recessive form [NCBI] 0.000114249
EBP [NCBI] 0.000114026
MNS [NCBI] 0.000113767
DGCR14 [NCBI] 0.000110876
F7R [NCBI] 0.000110876
FOXC1 [NCBI] 0.000108806
TAZ [NCBI] 0.000108806
OFC1 [NCBI] 0.000107702
KNO [NCBI] 0.00010601
mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor [NCBI] 0.00010564
ectodermal dysplasia, trichoodontoonychial type [NCBI] 0.00010564
renal dysplasia-limb defects syndrome [NCBI] 0.00010564
biliary malformation with renal tubular insufficiency [NCBI] 0.00010564
atpaf2 deficiency [NCBI] 0.00010564
pterygium colli and mental retardation with facial and digital anomalies [NCBI] 0.00010564
hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation [NCBI] 0.00010564
spondyloocular syndrome, autosomal recessive [NCBI] 0.00010564
OFD7 [NCBI] 0.00010564
ectrodactyly of lower limbs, congenital heart defect, and micrognathia [NCBI] 0.00010564
stratton-parker syndrome [NCBI] 0.00010564
MKS4 [NCBI] 0.00010564
pallister w syndrome [NCBI] 0.00010564
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities [NCBI] 0.00010564
pierre robin syndrome and oligodactyly [NCBI] 0.00010564
caudal duplication anomaly [NCBI] 0.00010564
ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia [NCBI] 0.00010564
CLSD [NCBI] 0.00010564
thymic-renal-anal-lung dysplasia [NCBI] 0.00010564
nasodigitoacoustic syndrome [NCBI] 0.00010564
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities [NCBI] 0.00010564
teebi-shaltout syndrome [NCBI] 0.00010564
cerebrofacioarticular syndrome [NCBI] 0.00010564
JBTS6 [NCBI] 0.00010564
sebaceous nevus syndrome and hemimegalencephaly [NCBI] 0.00010564
tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities [NCBI] 0.00010564
pelviscapular dysplasia [NCBI] 0.00010564
holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate [NCBI] 0.00010564
acrofrontofacionasal dysostosis syndrome [NCBI] 0.00010564
radial aplasia, x-linked [NCBI] 0.00010564
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism [NCBI] 0.00010564
craniosynostosis with fibular aplasia [NCBI] 0.00010564
hirsutism--skeletal dysplasia--mental retardation syndrome [NCBI] 0.00010564
situs inversus totalis with cystic dysplasia of kidneys and pancreas [NCBI] 0.00010564
faciocardiorenal syndrome [NCBI] 0.00010564
holoprosencephaly with fetal akinesia/hypokinesia sequence [NCBI] 0.00010564
asplenia with cystic liver, kidney, and pancreas [NCBI] 0.00010564
crane-heise syndrome [NCBI] 0.00010564
polysyndactyly with cardiac malformation [NCBI] 0.00010564
craniosynostosis-mental retardation syndrome of lin and gettig [NCBI] 0.00010564
hernia, anterior diaphragmatic [NCBI] 0.00010564
external auditory canal, bilateral atresia of, with congenital vertical talus [NCBI] 0.00010564
contractures, congenital, torticollis, and malignant hyperthermia [NCBI] 0.00010564
meacham syndrome [NCBI] 0.00010564
aniridia, partial, with unilateral renal agenesis and psychomotor retardation [NCBI] 0.00010564
mcdonough syndrome [NCBI] 0.00010564
cleft palate, cardiac defect, genital anomalies, and ectrodactyly [NCBI] 0.00010564
NSX [NCBI] 0.00010564
microcephaly and digital abnormalities with normal intelligence [NCBI] 0.00010564
edinburgh malformation syndrome [NCBI] 0.00010564
ectrodactyly-cleft palate syndrome [NCBI] 0.00010564
eyebrows, duplication of, with stretchable skin and syndactyly [NCBI] 0.00010564
limb deficiencies, distal, with micrognathia [NCBI] 0.00010564
OAFNS [NCBI] 0.00010564
dextrocardia with unusual facies and microphthalmia [NCBI] 0.00010564
epiphyseal dysplasia, multiple, with myopia and conductive deafness [NCBI] 0.00010564
splenogonadal fusion with limb defects and micrognathia [NCBI] 0.000105188
progeroid short stature with pigmented nevi [NCBI] 0.000105188
uniparental disomy, paternal, chromosome 14 [NCBI] 0.000105188
iris coloboma with ptosis, hypertelorism, and mental retardation [NCBI] 0.000105188
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome [NCBI] 0.000105188
aprosencephaly syndrome [NCBI] 0.000105188
heterotopia, periventricular, x-linked dominant [NCBI] 0.000104808
TBCE [NCBI] 0.000104759
FANCB [NCBI] 0.000104759
SCS [NCBI] 0.000104745
UFS [NCBI] 0.000104091
WAS [NCBI] 0.000103742
ZNF136 [NCBI] 0.000101346
EHMT1 [NCBI] 0.000101346
ZNF154 [NCBI] 0.000101346
HYLS1 [NCBI] 0.000101346
KPNA2 [NCBI] 0.000101346
ZNF138 [NCBI] 0.000101346
ZNF133 [NCBI] 0.000101346
ZKSCAN1 [NCBI] 0.000101346
ZNF140 [NCBI] 0.000101346
ZNF134 [NCBI] 0.000101346
ZNF142 [NCBI] 0.000101346
ZNF151 [NCBI] 0.000101346
KCNJ12 [NCBI] 0.000101346
ZNF131 [NCBI] 0.000101346
ZNF155 [NCBI] 0.000101346
ZNF135 [NCBI] 0.000101346
ZNF143 [NCBI] 0.000101346
ZNF132 [NCBI] 0.000101346
SEC23A [NCBI] 0.000101346
ZNF137 [NCBI] 0.000101346
nijmegen breakage syndrome [NCBI] 0.00010075
septooptic dysplasia [NCBI] 9.99864e-05
LDHB [NCBI] 9.97288e-05
AHI1 [NCBI] 9.97288e-05
JWS [NCBI] 9.88609e-05
donohue syndrome [NCBI] 9.84605e-05
epidermolysis bullosa with pyloric atresia [NCBI] 9.84605e-05
GFAP [NCBI] 9.76586e-05
TRPS1 [NCBI] 9.54542e-05
MKKS [NCBI] 9.54542e-05
PXE [NCBI] 9.42355e-05
chromosome 18p deletion syndrome [NCBI] 9.29549e-05
cleft lip/palate with abnormal thumbs and microcephaly [NCBI] 9.29549e-05
chorioretinal dysplasia-microcephaly-mental retardation syndrome [NCBI] 9.29549e-05
desmosterolosis [NCBI] 9.29549e-05
cleft, median, of upper lip with polyps of facial skin and nasal mucosa [NCBI] 9.29549e-05
tibial hemimelia [NCBI] 9.29549e-05
pelvis-shoulder dysplasia [NCBI] 9.29549e-05
native american myopathy [NCBI] 9.29549e-05
cerebellotrigeminal dermal dysplasia [NCBI] 9.29549e-05
isotretinoin embryopathy-like syndrome [NCBI] 9.29549e-05
SHFM4 [NCBI] 9.29549e-05
zunich neuroectodermal syndrome [NCBI] 9.29549e-05
chromosome 18q deletion syndrome [NCBI] 9.256e-05
WS3 [NCBI] 9.256e-05
NBS1 [NCBI] 9.00431e-05
PJS [NCBI] 8.85851e-05
CEP290 [NCBI] 8.84498e-05
masa syndrome [NCBI] 8.74444e-05
three m syndrome [NCBI] 8.69383e-05
RENS1 [NCBI] 8.69383e-05
CRS1 [NCBI] 8.69383e-05
DCX [NCBI] 8.55032e-05
autism [NCBI] 8.49817e-05
stomatocytosis i [NCBI] 8.47548e-05
ruvalcaba syndrome [NCBI] 8.35157e-05
goldberg-shprintzen megacolon syndrome [NCBI] 8.35157e-05
MSS [NCBI] 8.3148e-05
DLL3 [NCBI] 8.28339e-05
WHSC2 [NCBI] 8.24249e-05
LETM1 [NCBI] 8.24249e-05
SEMA3E [NCBI] 8.24249e-05
STRA6 [NCBI] 8.24249e-05
ZNF148 [NCBI] 8.24249e-05
CLTCL1 [NCBI] 8.24249e-05
NGFB [NCBI] 8.22627e-05
potocki-shaffer syndrome [NCBI] 8.18733e-05
DA2B [NCBI] 8.18733e-05
WS2A [NCBI] 8.18733e-05
pfeiffer syndrome [NCBI] 8.04741e-05
SHOX [NCBI] 7.87526e-05
contractural arachnodactyly, congenital [NCBI] 7.87526e-05
CHS [NCBI] 7.7947e-05
AR [NCBI] 7.62598e-05
LRP2 [NCBI] 7.60719e-05
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked [NCBI] 7.58487e-05
gastroschisis [NCBI] 7.58487e-05
BDE [NCBI] 7.58487e-05
WARBM [NCBI] 7.58487e-05
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2 [NCBI] 7.58088e-05
HCH [NCBI] 7.54469e-05
GEMSS [NCBI] 7.53208e-05
brachydactyly-ectrodactyly with fibular aplasia or hypoplasia [NCBI] 7.53208e-05
crisponi syndrome [NCBI] 7.53208e-05
gastrointestinal abnormalities, multiple [NCBI] 7.53208e-05
aortic aneurysm, giant congenital [NCBI] 7.53208e-05
nicolaides-baraitser syndrome [NCBI] 7.53208e-05
microduplication 22q11.2 [NCBI] 7.53208e-05
limb defects, distal transverse, with mental retardation and spasticity [NCBI] 7.53208e-05
fountain syndrome [NCBI] 7.53208e-05
ichthyosis--cheek--eyebrow syndrome [NCBI] 7.53208e-05
preaxial deficiency, postaxial polydactyly, and hypospadias [NCBI] 7.53208e-05
acrorenal syndrome, autosomal recessive [NCBI] 7.53208e-05
fetal akinesia syndrome, x-linked [NCBI] 7.53208e-05
gorlin-chaudhry-moss syndrome [NCBI] 7.53208e-05
cree mental retardation syndrome [NCBI] 7.53208e-05
split-hand with congenital nystagmus, fundal changes, and cataracts [NCBI] 7.53208e-05
camera-marugo-cohen syndrome [NCBI] 7.53208e-05
alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism [NCBI] 7.53208e-05
split-foot deformity with mandibulofacial dysostosis [NCBI] 7.53208e-05
lowry-maclean syndrome [NCBI] 7.53208e-05
acrofrontofacionasal dysostosis, severe [NCBI] 7.53208e-05
fitzsimmons-guilbert syndrome [NCBI] 7.53208e-05
retinohepatoendocrinologic syndrome [NCBI] 7.53208e-05
agonadism with multiple internal malformations [NCBI] 7.53208e-05
myopathy, congenital nonprogressive, with moebius sequence and robin sequence [NCBI] 7.53208e-05
omphalocele, diaphragmatic hernia, and radial ray defects [NCBI] 7.53208e-05
al-gazali syndrome [NCBI] 7.53208e-05
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome [NCBI] 7.53208e-05
RTT [NCBI] 7.51286e-05
TBX1 [NCBI] 7.41372e-05
FAM20C [NCBI] 7.39064e-05
SIX6 [NCBI] 7.39064e-05
VPS33B [NCBI] 7.39064e-05
BCOR [NCBI] 7.39064e-05
COL2A1 [NCBI] 7.38569e-05
TSD [NCBI] 7.35107e-05
CD [NCBI] 7.35017e-05
alpha-thalassemia/mental retardation syndrome, deletion-type [NCBI] 7.30673e-05
BOS1 [NCBI] 7.30673e-05
acroosteolysis with osteoporosis and changes in skull and mandible [NCBI] 7.22115e-05
facial ectodermal dysplasia [NCBI] 7.22115e-05
frontofacionasal dysostosis [NCBI] 7.07163e-05
anonychia-onychodystrophy with hypoplasia or absence of distal phalanges [NCBI] 7.07163e-05
spondylodysplasia with pure brachyolmia [NCBI] 7.07163e-05
volvulus of midgut [NCBI] 7.07163e-05
MHAC [NCBI] 7.07163e-05
chudley-mccullough syndrome [NCBI] 7.07163e-05
EPV [NCBI] 7.07163e-05
cerebellar atrophy with progressive microcephaly [NCBI] 7.07163e-05
van der woude syndrome modifier [NCBI] 7.07163e-05
WS2B [NCBI] 7.07163e-05
split-hand/foot malformation with sensorineural hearing loss [NCBI] 7.07163e-05
aase-smith syndrome i [NCBI] 7.07163e-05
triphalangeal thumbs with brachyectrodactyly [NCBI] 7.07163e-05
branchiootic syndrome 2 [NCBI] 7.07163e-05
FOXL2 [NCBI] 7.06295e-05
ZS [NCBI] 7.02122e-05
LIS1 [NCBI] 6.94142e-05
OPPG [NCBI] 6.92e-05
IP [NCBI] 6.8887e-05
FGFR1 [NCBI] 6.87327e-05
MED12 [NCBI] 6.80777e-05
PMX1 [NCBI] 6.80777e-05
ESCO2 [NCBI] 6.80777e-05
PHF6 [NCBI] 6.80777e-05
EYA1 [NCBI] 6.75168e-05
ATR [NCBI] 6.60834e-05
PTCH1 [NCBI] 6.60834e-05
AHDS [NCBI] 6.56268e-05
chondrodysplasia, grebe type [NCBI] 6.38892e-05
MYH8 [NCBI] 6.36253e-05
ETFDH [NCBI] 6.36253e-05
NSDHL [NCBI] 6.36253e-05
andersen cardiodysrhythmic periodic paralysis [NCBI] 6.32689e-05
CDPX1 [NCBI] 6.23115e-05
stapes ankylosis with broad thumb and toes [NCBI] 6.19657e-05
robin sequence with cleft mandible and limb anomalies [NCBI] 6.19657e-05
tetra-amelia, autosomal recessive [NCBI] 6.19657e-05
gurrieri syndrome [NCBI] 6.19657e-05
gonadal agenesis [NCBI] 6.19657e-05
coloboma of macula with type b brachydactyly [NCBI] 6.19657e-05
branchial arch syndrome, x-linked [NCBI] 6.19657e-05
anal atresia, hypospadias, and penoscrotal inversion [NCBI] 6.19657e-05
coach syndrome [NCBI] 6.19657e-05
heterotaxy, visceral, 2, autosomal [NCBI] 6.19657e-05
monosomy 9p syndrome [NCBI] 6.19657e-05
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities [NCBI] 6.19657e-05
hearing loss, sensorineural, with enamel hypoplasia and nail defects [NCBI] 6.19657e-05
oculopalatoskeletal syndrome [NCBI] 6.19657e-05
TGFBR2 [NCBI] 6.10029e-05
EIF2AK3 [NCBI] 6.002e-05
SHANK3 [NCBI] 6.002e-05
FLNB [NCBI] 6.002e-05
CRLF1 [NCBI] 6.002e-05
SKI [NCBI] 6.002e-05
BUB1B [NCBI] 6.002e-05
ERCC2 [NCBI] 5.98692e-05
TTDP [NCBI] 5.92241e-05
SCZD4 [NCBI] 5.90642e-05
OSMED [NCBI] 5.90642e-05
noonan-like/multiple giant cell lesion syndrome [NCBI] 5.90642e-05
omphalocele [NCBI] 5.90642e-05
FBN1 [NCBI] 5.80333e-05
RB1 [NCBI] 5.71456e-05
FGFR3 [NCBI] 5.71456e-05
MEST [NCBI] 5.69914e-05
PAPSS2 [NCBI] 5.69914e-05
ARSE [NCBI] 5.69914e-05
HESX1 [NCBI] 5.69914e-05
MEG3 [NCBI] 5.69914e-05
AGS1 [NCBI] 5.63397e-05
WSS [NCBI] 5.47951e-05
wildervanck syndrome [NCBI] 5.47951e-05
WHSC1 [NCBI] 5.43814e-05
FGF10 [NCBI] 5.43814e-05
ALDH1A2 [NCBI] 5.43814e-05
HSPG2 [NCBI] 5.43814e-05
PAX1 [NCBI] 5.43814e-05
microtia with meatal atresia and conductive deafness [NCBI] 5.41511e-05
HTC1 [NCBI] 5.41511e-05
aniridia, cerebellar ataxia, and mental deficiency [NCBI] 5.41511e-05
polydactyly [NCBI] 5.29969e-05
pulmonary hypertension, familial persistent, of the newborn [NCBI] 5.29969e-05
CDD [NCBI] 5.29969e-05
TCPT [NCBI] 5.29969e-05
LISX2 [NCBI] 5.29969e-05
LVNCX [NCBI] 5.29969e-05
hypothyroidism, athyroidal, with spiky hair and cleft palate [NCBI] 5.29969e-05
PTHS [NCBI] 5.29969e-05
ectrodactyly [NCBI] 5.29969e-05
recombinant chromosome 8 syndrome [NCBI] 5.29969e-05
AVSD2 [NCBI] 5.29969e-05
UVS [NCBI] 5.29969e-05
femur-fibula-ulna syndrome [NCBI] 5.29969e-05
craniosynostosis with anomalies of the cranial base and digits [NCBI] 5.28178e-05
microcephaly-deafness syndrome [NCBI] 5.28178e-05
anonychia, total, with microcephaly [NCBI] 5.28178e-05
immotile cilia syndrome due to excessively long cilia [NCBI] 5.28178e-05
hirschsprung disease with hypoplastic nails and dysmorphic facial features [NCBI] 5.28178e-05
brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia [NCBI] 5.28178e-05
bifid nose [NCBI] 5.28178e-05
dyggve-melchior-clausen syndrome, x-linked [NCBI] 5.28178e-05
facial dysmorphism with multiple malformations [NCBI] 5.28178e-05
bifid nose, renal agenesis, and anorectal malformations [NCBI] 5.28178e-05
finger locking, recurrent, with intrauterine growth retardation and proportionate short stature [NCBI] 5.28178e-05
ulnar agenesis and endocardial fibroelastosis [NCBI] 5.28178e-05
metaphyseal chondrodysplasia, kaitila type [NCBI] 5.28178e-05
ectrodactyly-polydactyly [NCBI] 5.28178e-05
brachydactyly, type e, with atrial septal defect, type ii [NCBI] 5.28178e-05
preaxial hallucal polydactyly [NCBI] 5.28178e-05
fibuloulnar aplasia or hypoplasia with renal abnormalities [NCBI] 5.28178e-05
midface hypoplasia, obesity, developmental delay, and neonatal hypotonia [NCBI] 5.28178e-05
COFS2 [NCBI] 5.28178e-05
premature aging syndrome, penttinen type [NCBI] 5.28178e-05
frontonasal dysplasia with alar clefts [NCBI] 5.28178e-05
otofacioosseous-gonadal syndrome [NCBI] 5.28178e-05
rudiger syndrome [NCBI] 5.28178e-05
aphalangy with hemivertebrae [NCBI] 5.28178e-05
cephalocele, atretic [NCBI] 5.28178e-05
facial dysmorphism, selective tooth agenesis, and choroid calcification [NCBI] 5.28178e-05
spondyloepiphyseal dysplasia, myopia, and sensorineural deafness [NCBI] 5.28178e-05
polydactyly, imperforate anus, and vertebral anomalies [NCBI] 5.28178e-05
cleft-limb-heart malformation syndrome [NCBI] 5.28178e-05
pulmonary atresia with ventricular septal defect [NCBI] 5.28178e-05
growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [NCBI] 5.28178e-05
corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation [NCBI] 5.28178e-05
arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [NCBI] 5.28178e-05
thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness [NCBI] 5.28178e-05
enamel hypoplasia, cataracts, and aqueductal stenosis [NCBI] 5.28178e-05
mesoaxial hexadactyly and cardiac malformation [NCBI] 5.28178e-05
light fixation seizure syndrome [NCBI] 5.28178e-05
facial abnormalities, kyphoscoliosis, and mental retardation [NCBI] 5.28178e-05
oculomaxillofacial dysplasia with oblique facial clefts [NCBI] 5.28178e-05
amelia, autosomal recessive [NCBI] 5.28178e-05
charcot-marie-tooth disease, guadalajara neuronal type [NCBI] 5.28178e-05
megaepiphyseal dwarfism [NCBI] 5.28178e-05
congenital heart defects, hamartomas of tongue, and polysyndactyly [NCBI] 5.28178e-05
dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy [NCBI] 5.28178e-05
kapur-toriello syndrome [NCBI] 5.28178e-05
crumpled helices and small mouth [NCBI] 5.28178e-05
symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch [NCBI] 5.28178e-05
cyprus facial neuromusculoskeletal syndrome [NCBI] 5.28178e-05
hand and foot deformity with flat facies [NCBI] 5.28178e-05
vitiligo, progressive, with mental retardation and urethral duplication [NCBI] 5.28178e-05
prune belly syndrome with pulmonic stenosis, mental retardation, and deafness [NCBI] 5.28178e-05
microcephaly with digital anomalies [NCBI] 5.28178e-05
aprosencephaly and cerebellar dysgenesis [NCBI] 5.28178e-05
ulnar hypoplasia with mental retardation [NCBI] 5.28178e-05
faciothoracogenital syndrome [NCBI] 5.28178e-05
albinism-microcephaly-digital anomalies syndrome [NCBI] 5.28178e-05
STQTL9 [NCBI] 5.28178e-05
cardiac malformation, cleft lip-palate, microcephaly and digital anomalies [NCBI] 5.28178e-05
reese retinal dysplasia [NCBI] 5.28178e-05
endothelial dystrophy, congenital hereditary, with nail hypoplasia [NCBI] 5.28178e-05
laryngotracheal stenosis, progressive, with short stature and arthropathy [NCBI] 5.28178e-05
microcornea, glaucoma, and absent frontal sinuses [NCBI] 5.28178e-05
HRX [NCBI] 5.28178e-05
skeletal dysplasia and progressive central nervous system degeneration, lethal [NCBI] 5.28178e-05
palant cleft palate syndrome [NCBI] 5.28178e-05
spondyloepimetaphyseal dysplasia, genevieve type [NCBI] 5.28178e-05
epithelial squamous dysplasia, keratinizing desquamative, of urinary tract [NCBI] 5.28178e-05
polydactyly, postaxial, with progressive myopia [NCBI] 5.28178e-05
dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation [NCBI] 5.28178e-05
CASS [NCBI] 5.28178e-05
cardioskeletal syndrome, kuwaiti type [NCBI] 5.28178e-05
spondyloepiphyseal dysplasia tarda with characteristic facies [NCBI] 5.28178e-05
cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss [NCBI] 5.28178e-05
white forelock with malformations [NCBI] 5.28178e-05
teeth, noneruption of, with maxillary hypoplasia and genu valgum [NCBI] 5.28178e-05
sonoda syndrome [NCBI] 5.28178e-05
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation [NCBI] 5.28178e-05
simosa craniofacial syndrome [NCBI] 5.28178e-05
oral and digital anomalies with ichthyosis [NCBI] 5.28178e-05
brachymesomelia-renal syndrome [NCBI] 5.28178e-05
cerebrorenodigital syndrome with limb malformations and triradiate acetabula [NCBI] 5.28178e-05
radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema [NCBI] 5.28178e-05
beemer lethal malformation syndrome [NCBI] 5.28178e-05
coloboma of macula and skeletal anomalies [NCBI] 5.28178e-05
partington-anderson syndrome [NCBI] 5.28178e-05
steinfeld syndrome [NCBI] 5.28178e-05
hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss [NCBI] 5.28178e-05
craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation [NCBI] 5.28178e-05
hydrocephalus with associated malformations [NCBI] 5.28178e-05
mental retardation, x-linked, with craniofacial dysmorphism [NCBI] 5.28178e-05
mesomelic limb shortening and bowing [NCBI] 5.28178e-05
tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies [NCBI] 5.28178e-05
hallux varus and preaxial polysyndactyly [NCBI] 5.28178e-05
arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay [NCBI] 5.28178e-05
sao paulo mca/mr syndrome [NCBI] 5.28178e-05
diaphragmatic defects, limb deficiencies, and ossification defects of skull [NCBI] 5.28178e-05
acrofacial dysostosis, palagonia type [NCBI] 5.28178e-05
rhyns syndrome [NCBI] 5.28178e-05
ptosis, strabismus, and ectopic pupils [NCBI] 5.28178e-05
mental retardation, short stature, facial anomalies, and joint dislocations [NCBI] 5.28178e-05
cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss [NCBI] 5.28178e-05
midline malformations, multiple, with limb abnormalities and hypopituitarism [NCBI] 5.28178e-05
exostoses with anetodermia and brachydactyly, type e [NCBI] 5.28178e-05
cantu syndrome [NCBI] 5.28178e-05
microspherophakia with hernia [NCBI] 5.28178e-05
genu valgum, st. helena familial [NCBI] 5.28178e-05
camptodactyly syndrome, guadalajara type ii [NCBI] 5.28178e-05
microcephaly with cervical spine fusion anomalies [NCBI] 5.28178e-05
lissencephaly, familial, with cleft palate and cerebellar hypoplasia [NCBI] 5.28178e-05
bile and pancreatic ducts, complete absence of [NCBI] 5.28178e-05
cholesterol pneumonia [NCBI] 5.28178e-05
split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects [NCBI] 5.28178e-05
mental retardation, obesity, mandibular prognathism, and eye and skin anomalies [NCBI] 5.28178e-05
deafness, conductive stapedial, with ear malformation and facial palsy [NCBI] 5.28178e-05
3-@methylglutaconic aciduria, type v [NCBI] 5.28178e-05
median-ulnar nerve communications [NCBI] 5.28178e-05
harrod syndrome [NCBI] 5.28178e-05
cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness [NCBI] 5.28178e-05
cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction [NCBI] 5.28178e-05
lymphedema-hypoparathyroidism syndrome [NCBI] 5.28178e-05
spinocerebellar ataxia with dysmorphism [NCBI] 5.28178e-05
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures [NCBI] 5.28178e-05
anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis [NCBI] 5.28178e-05
ectodermal dysplasia with mental retardation and syndactyly [NCBI] 5.28178e-05
uruguay faciocardiomusculoskeletal syndrome [NCBI] 5.28178e-05
cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation [NCBI] 5.28178e-05
schimke x-linked mental retardation syndrome [NCBI] 5.28178e-05
arthropathy, erosive [NCBI] 5.28178e-05
lambotte syndrome [NCBI] 5.28178e-05
COFS4 [NCBI] 5.28178e-05
megarbane syndrome [NCBI] 5.28178e-05
ventricular extrasystoles with syncope, perodactyly, and robin sequence [NCBI] 5.28178e-05
robin sequence with distinctive facial appearance and brachydactyly [NCBI] 5.28178e-05
atrial septal defect, secundum, with various cardiac and noncardiac defects [NCBI] 5.28178e-05
deafness-craniofacial syndrome [NCBI] 5.28178e-05
hydrocephalus, endocardial fibroelastosis, and cataracts [NCBI] 5.28178e-05
acrocephalopolysyndactyly type iii [NCBI] 5.28178e-05
microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs [NCBI] 5.28178e-05
SERKAL [NCBI] 5.28178e-05
cryptomicrotia-brachydactyly syndrome [NCBI] 5.28178e-05
brachydactyly, intraventricular septal defect, and deafness [NCBI] 5.28178e-05
amaurosis congenita, cone-rod type, with congenital hypertrichosis [NCBI] 5.28178e-05
brachymetapody-anodontia-hypotrichosis-albinoidism [NCBI] 5.28178e-05
progeroid facial appearance with hand anomalies [NCBI] 5.28178e-05
speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease [NCBI] 5.28178e-05
grant syndrome [NCBI] 5.28178e-05
ulnar hypoplasia with lobster-claw deformity of feet [NCBI] 5.28178e-05
scarf syndrome [NCBI] 5.28178e-05
momo syndrome [NCBI] 5.28178e-05
diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification [NCBI] 5.28178e-05
renal and mullerian duct hypoplasia [NCBI] 5.28178e-05
multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism [NCBI] 5.28178e-05
lymphedema, atrial septal defect, and facial changes [NCBI] 5.28178e-05
multiple congenital anomalies syndrome with cloverleaf skull [NCBI] 5.28178e-05
bird-headed dwarfism, montreal type [NCBI] 5.28178e-05
growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia [NCBI] 5.28178e-05
camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia [NCBI] 5.28178e-05
gonadal dysgenesis, xy type, with associated anomalies [NCBI] 5.28178e-05
mental retardation, microcephaly, epilepsy, and coarse face [NCBI] 5.28178e-05
agonadism, xy, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations [NCBI] 5.28178e-05
anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome [NCBI] 5.28178e-05
macdermot-winter syndrome [NCBI] 5.28178e-05
acrorenal syndrome [NCBI] 5.28178e-05
holoprosencephaly, semilobar, with craniosynostosis [NCBI] 5.28178e-05
mandibulofacial dysostosis with macroblepharon and macrostomia [NCBI] 5.28178e-05
trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet [NCBI] 5.28178e-05
radioulnar synostosis, radial ray abnormalities, and severe malformations in the male [NCBI] 5.28178e-05
polydactyly, postaxial, with dental and vertebral anomalies [NCBI] 5.28178e-05
ehlers-danlos syndrome, autosomal dominant, type unspecified [NCBI] 5.28178e-05
fallot complex with severe mental and growth retardation [NCBI] 5.28178e-05
sella turcica, bridged [NCBI] 5.28178e-05
phaver syndrome [NCBI] 5.28178e-05
hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities [NCBI] 5.28178e-05
keratosis follicularis, dwarfism, and cerebral atrophy [NCBI] 5.28178e-05
radial ray hypoplasia with choanal atresia [NCBI] 5.28178e-05
clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia [NCBI] 5.28178e-05
nasal bones, absence of [NCBI] 5.28178e-05
osebold skeletal dysplasia/osteolysis syndrome [NCBI] 5.28178e-05
trisomy 18-like syndrome [NCBI] 5.28178e-05
facial dysmorphism, cleft palate, hearing loss, and camptodactyly [NCBI] 5.28178e-05
cerebral malformation, seizures, hypertrichosis, and overlapping fingers [NCBI] 5.28178e-05
scaphocephaly, maxillary retrusion, and mental retardation [NCBI] 5.28178e-05
premature aging syndrome, okamoto type [NCBI] 5.28178e-05
craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus [NCBI] 5.28178e-05
amastia, bilateral, with ureteral triplication and dysmorphism [NCBI] 5.28178e-05
ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin [NCBI] 5.28178e-05
chondrodysplasia, lethal, with long bone angulation and mixed bone density [NCBI] 5.28178e-05
aortic arch anomaly with peculiar facies and mental retardation [NCBI] 5.28178e-05
brachioskeletogenital syndrome [NCBI] 5.28178e-05
incisors, lower central, absence of [NCBI] 5.28178e-05
emphysema, congenital, with deafness, penoscrotal web, and mental retardation [NCBI] 5.28178e-05
aural atresia, multiple congenital anomalies, and mental retardation [NCBI] 5.28178e-05
spastic paraplegia, optic atrophy, microcephaly, and xy sex reversal [NCBI] 5.28178e-05
chondrodysplasia-pseudohermaphroditism syndrome [NCBI] 5.28178e-05
ackerman syndrome [NCBI] 5.28178e-05
german syndrome [NCBI] 5.28178e-05
wolff mental retardation syndrome [NCBI] 5.28178e-05
duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery [NCBI] 5.28178e-05
growth retardation, small and puffy hands and feet, and eczema [NCBI] 5.28178e-05
metaphyseal dysplasia with maxillary hypoplasia and brachydactyly [NCBI] 5.28178e-05
mental retardation, keratoconus, febrile seizures, and sinoatrial block [NCBI] 5.28178e-05
laryngeal atresia, encephalocele, and limb deformities [NCBI] 5.28178e-05
HPS [NCBI] 5.23426e-05
MYO7A [NCBI] 5.2211e-05
DNAH11 [NCBI] 5.20896e-05
HK1 [NCBI] 5.20896e-05
ATS [NCBI] 5.09785e-05
USH1C [NCBI] 5.09785e-05
GINGF [NCBI] 5.09785e-05
ZNF141 [NCBI] 5.06675e-05
ATPAF2 [NCBI] 5.06675e-05
FKBP1A [NCBI] 5.06675e-05
PAFAH1B3 [NCBI] 5.06675e-05
LRPAP1 [NCBI] 5.06675e-05
SLC7A4 [NCBI] 5.06675e-05
IDH1 [NCBI] 5.06675e-05
WWTR1 [NCBI] 5.06675e-05
NDUFA8 [NCBI] 5.06675e-05
radial ray deficiency, x-linked [NCBI] 5.06675e-05
MTIF2 [NCBI] 5.06675e-05
SCN3A [NCBI] 5.06675e-05
THRAP2 [NCBI] 5.06675e-05
CD96 [NCBI] 5.06675e-05
GPR92 [NCBI] 5.06675e-05
DNAJC19 [NCBI] 5.06675e-05
DLX2 [NCBI] 5.06675e-05
CDC14B [NCBI] 5.06675e-05
MFAP4 [NCBI] 5.06675e-05
GUK1 [NCBI] 5.06675e-05
ataxin-1 ubiquitin-like interacting protein [NCBI] 5.06675e-05
SMARCC2 [NCBI] 5.06675e-05
KLF14 [NCBI] 5.06675e-05
NT5C [NCBI] 5.06675e-05
C7ORF10 [NCBI] 5.06675e-05
COTL1 [NCBI] 5.06675e-05
MED12L [NCBI] 5.06675e-05
GCN5L2 [NCBI] 5.06675e-05
CLDN5 [NCBI] 5.06675e-05
ZW10 [NCBI] 5.06675e-05
TAOK1 [NCBI] 5.06675e-05
SFRS7 [NCBI] 5.06675e-05
C8ORF1 [NCBI] 5.06675e-05
SPTBN1 [NCBI] 5.06675e-05
FGD2 [NCBI] 5.06675e-05
LAP3 [NCBI] 5.06675e-05
ADAMTS10 [NCBI] 5.06675e-05
SMARCD2 [NCBI] 5.06675e-05
MACROD2 [NCBI] 5.06675e-05
ARVCF [NCBI] 5.06675e-05
ZWINT [NCBI] 5.06675e-05
KCNMB3 [NCBI] 5.06675e-05
DNM1L [NCBI] 5.06675e-05
RAB3GAP2 [NCBI] 5.06675e-05
SMARCD1 [NCBI] 5.06675e-05
SMG6 [NCBI] 5.06675e-05
NT5M [NCBI] 5.06675e-05
ZNF179 [NCBI] 5.06675e-05
SHMT1 [NCBI] 5.06675e-05
HOXB6 [NCBI] 5.06675e-05
KIAA1279 [NCBI] 5.06675e-05
npl4, s. cerevisiae, homolog of [NCBI] 5.06675e-05
mental retardation, x-linked, south african type [NCBI] 5.06675e-05
FLRT3 [NCBI] 5.06675e-05
CECR1 [NCBI] 5.06675e-05
SMARCC1 [NCBI] 5.06675e-05
COPS3 [NCBI] 5.06675e-05
TFAP2B [NCBI] 5.0048e-05
PTEN [NCBI] 4.87532e-05
AAA [NCBI] 4.87086e-05
HHS [NCBI] 4.75375e-05
ACG2 [NCBI] 4.75375e-05
CPT2 [NCBI] 4.65347e-05
HBZ [NCBI] 4.65347e-05
HPE4 [NCBI] 4.62723e-05
cleft larynx, posterior [NCBI] 4.62723e-05
fibromatosis, gingival, with hypertrichosis [NCBI] 4.62723e-05
STL3 [NCBI] 4.62723e-05
clark-baraitser syndrome [NCBI] 4.62723e-05
MONA [NCBI] 4.62723e-05
gracile bone dysplasia [NCBI] 4.62723e-05
MBP [NCBI] 4.5463e-05
ITGB4 [NCBI] 4.50008e-05
KCNJ2 [NCBI] 4.50008e-05
COL11A2 [NCBI] 4.50008e-05
WT1 [NCBI] 4.46514e-05
CTHM [NCBI] 4.44133e-05
HPE3 [NCBI] 4.44133e-05
F12 [NCBI] 4.35856e-05
PRODH [NCBI] 4.35856e-05
HOXD13 [NCBI] 4.22727e-05
ERCC6 [NCBI] 4.22727e-05
OPMD [NCBI] 4.18724e-05
tetralogy of fallot [NCBI] 4.156e-05
PMD [NCBI] 4.13577e-05
MSX1 [NCBI] 4.10486e-05
EHBA [NCBI] 4.09293e-05
CAT [NCBI] 4.0923e-05
achalasia, familial esophageal [NCBI] 4.05719e-05
ACG1A [NCBI] 4.05719e-05
RTS [NCBI] 3.9616e-05
FOXC2 [NCBI] 3.8826e-05
GLDC [NCBI] 3.8826e-05
oculodentoosseous dysplasia, recessive [NCBI] 3.78838e-05
AMMECR1 [NCBI] 3.78838e-05
costovertebral segmentation anomalies [NCBI] 3.78838e-05
onychotrichodysplasia and neutropenia [NCBI] 3.78838e-05
dandy-walker malformation with mental retardation, basal ganglia disease, and seizures [NCBI] 3.78838e-05
johnson neuroectodermal syndrome [NCBI] 3.78838e-05
autism, susceptibility to, 3 [NCBI] 3.78838e-05
woolly hair, autosomal dominant [NCBI] 3.78838e-05
VUR1 [NCBI] 3.76415e-05
B4GALT7 [NCBI] 3.69477e-05
P4HA3 [NCBI] 3.69477e-05
LFNG [NCBI] 3.69477e-05
IL17RA [NCBI] 3.69477e-05
C20ORF41 [NCBI] 3.69477e-05
PRRX2 [NCBI] 3.69477e-05
E2F4 [NCBI] 3.69477e-05
SMARCD3 [NCBI] 3.69477e-05
NDUFS7 [NCBI] 3.69477e-05
DECR1 [NCBI] 3.69477e-05
UPF3B [NCBI] 3.69477e-05
CALB1 [NCBI] 3.69477e-05
MAP2K2 [NCBI] 3.69477e-05
SPAG6 [NCBI] 3.69477e-05
CFC1 [NCBI] 3.69477e-05
AXIN1 [NCBI] 3.69477e-05
NDUFB6 [NCBI] 3.69477e-05
NDUFB9 [NCBI] 3.69477e-05
RDH10 [NCBI] 3.69477e-05
RCN1 [NCBI] 3.69477e-05
CRK [NCBI] 3.69477e-05
SLC25A18 [NCBI] 3.69477e-05
MRX49 [NCBI] 3.69477e-05
PPM1B [NCBI] 3.69477e-05
UBR1 [NCBI] 3.69477e-05
PFKP [NCBI] 3.69477e-05
IGF2BP3 [NCBI] 3.69477e-05
CECR2 [NCBI] 3.69477e-05
CLK2 [NCBI] 3.69477e-05
EOMES [NCBI] 3.69477e-05
MYH3 [NCBI] 3.69477e-05
kiaa0442 [NCBI] 3.69477e-05
ATP6V0E1 [NCBI] 3.69477e-05
BRWD3 [NCBI] 3.69477e-05
HIBCH [NCBI] 3.69477e-05
NDUFS1 [NCBI] 3.69477e-05
AL-A1 [NCBI] 3.69477e-05
MDH1 [NCBI] 3.69477e-05
ARIX [NCBI] 3.69477e-05
BRWD2 [NCBI] 3.69477e-05
lipin 3 [NCBI] 3.69477e-05
HOXA7 [NCBI] 3.69477e-05
SC5DL [NCBI] 3.69477e-05
BARHL1 [NCBI] 3.69477e-05
DRG2 [NCBI] 3.69477e-05
BWS [NCBI] 3.65294e-05
mulibrey nanism [NCBI] 3.6527e-05
arthrogryposis, renal dysfunction, and cholestasis [NCBI] 3.65266e-05
hyperpipecolatemia [NCBI] 3.65266e-05
polydactyly, postaxial, type a1 [NCBI] 3.65266e-05
tracheoesophageal fistula with or without esophageal atresia [NCBI] 3.65266e-05
boomerang dysplasia [NCBI] 3.65266e-05
chondrodysplasia punctata, tibia-metacarpal type [NCBI] 3.65266e-05
PCD [NCBI] 3.62302e-05
PTPN11 [NCBI] 3.59412e-05
KFSD [NCBI] 3.42934e-05
DNMT3B [NCBI] 3.34673e-05
G6PD [NCBI] 3.31561e-05
MFS2 [NCBI] 3.28067e-05
AOII [NCBI] 3.28067e-05
naxos disease [NCBI] 3.28067e-05
serpentine fibula-polycystic kidney syndrome [NCBI] 3.28067e-05
OGD [NCBI] 3.28067e-05
acromesomelic dysplasia, hunter-thompson type [NCBI] 3.28067e-05
TWIST1 [NCBI] 3.27161e-05
SOST [NCBI] 3.222e-05
GDF5 [NCBI] 3.19968e-05
SLC25A1 [NCBI] 3.18072e-05
DSC1 [NCBI] 3.18072e-05
DYNLL1 [NCBI] 3.18072e-05
NLGN4 [NCBI] 3.18072e-05
VSX1 [NCBI] 3.18072e-05
CRELD1 [NCBI] 3.18072e-05
ADAMTS1 [NCBI] 3.18072e-05
MRPS22 [NCBI] 3.18072e-05
GTF2H5 [NCBI] 3.18072e-05
LHX3 [NCBI] 3.18072e-05
SLC4A7 [NCBI] 3.18072e-05
DLX5 [NCBI] 3.18072e-05
OTX2 [NCBI] 3.18072e-05
GPC4 [NCBI] 3.18072e-05
IDH3G [NCBI] 3.18072e-05
GTF2H1 [NCBI] 3.18072e-05
PAX4 [NCBI] 3.18072e-05
BMP5 [NCBI] 3.18072e-05
NDUFS8 [NCBI] 3.18072e-05
NDUFV1 [NCBI] 3.18072e-05
NFIA [NCBI] 3.18072e-05
CHRNG [NCBI] 3.18072e-05
RAB3GAP1 [NCBI] 3.18072e-05
GNAO1 [NCBI] 3.18072e-05
ITGA6 [NCBI] 3.18072e-05
PPA1 [NCBI] 3.18072e-05
DYM [NCBI] 3.18072e-05
PREPL [NCBI] 3.18072e-05
DGKD [NCBI] 3.18072e-05
ACHE [NCBI] 3.14807e-05
AMCN [NCBI] 3.11933e-05
arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly [NCBI] 3.09808e-05
coxoauricular syndrome [NCBI] 3.09808e-05
ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum [NCBI] 3.09808e-05
syndactyly, type v [NCBI] 3.09808e-05
acrofacial dysostosis, catania type [NCBI] 3.09808e-05
aortic arch interruption, facial palsy, and retinal coloboma [NCBI] 3.09808e-05
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies [NCBI] 3.09808e-05
cataract-ataxia-deafness-retardation syndrome [NCBI] 3.09808e-05
microcephalic primordial dwarfism, toriello type [NCBI] 3.09808e-05
renal dysplasia, diffuse cystic [NCBI] 3.09808e-05
micromelic dysplasia, congenital, with dislocation of radius [NCBI] 3.09808e-05
blepharonasofacial malformation syndrome [NCBI] 3.09808e-05
cahmr syndrome [NCBI] 3.09808e-05
MCOPCT3 [NCBI] 3.09808e-05
chromosome 9q subtelomeric deletion syndrome [NCBI] 3.09808e-05
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease [NCBI] 3.09808e-05
puerto rican infant hypotonia syndrome [NCBI] 3.09808e-05
ectrodactyly and ectodermal dysplasia without cleft lip/palate [NCBI] 3.09808e-05
dermoodontodysplasia [NCBI] 3.09808e-05
tibia vara [NCBI] 3.09808e-05
teeth present at birth [NCBI] 3.09808e-05
IS3 [NCBI] 3.09808e-05
MRXS14 [NCBI] 3.09808e-05
ataxia-microcephaly-cataract syndrome [NCBI] 3.09808e-05
mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia [NCBI] 3.09808e-05
platyspondyly with amelogenesis imperfecta [NCBI] 3.09808e-05
arthrogryposis, distal, with mental retardation and characteristic facies [NCBI] 3.09808e-05
tonoki syndrome [NCBI] 3.09808e-05
arthrogryposis, distal, type 2e [NCBI] 3.09808e-05
trigonocephaly with short stature and developmental delay [NCBI] 3.09808e-05
JBTS4 [NCBI] 3.09808e-05
dwarfism with stiff joints and ocular abnormalities [NCBI] 3.09808e-05
achalasia-microcephaly syndrome [NCBI] 3.09808e-05
devriendt syndrome [NCBI] 3.09808e-05
telecanthus [NCBI] 3.09808e-05
brachyrachia [NCBI] 3.09808e-05
spondyloepimetaphyseal dysplasia, shohat type [NCBI] 3.09808e-05
craniofacial dysmorphism with ocular coloboma, absent corpus callosum, and aortic dilatation [NCBI] 3.09808e-05
spondylometaphyseal dysplasia, east african type [NCBI] 3.09808e-05
deafness, congenital, with inner ear agenesis, microtia, and microdontia [NCBI] 3.09808e-05
pterygium syndrome, multiple, autosomal dominant [NCBI] 3.09808e-05
mental retardation syndrome, mietens-weber type [NCBI] 3.09808e-05
temtamy preaxial brachydactyly syndrome [NCBI] 3.09808e-05
craniomicromelic syndrome [NCBI] 3.09808e-05
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations [NCBI] 3.09808e-05
VUR2 [NCBI] 3.09808e-05
kniest-like dysplasia with pursed lips and ectopia lentis [NCBI] 3.09808e-05
fibromatosis, gingival, with hypertrichosis and mental retardation [NCBI] 3.09808e-05
second metatarsal-metacarpal syndrome [NCBI] 3.09808e-05
hydrocephalus, skeletal anomalies, and mental disturbance [NCBI] 3.09808e-05
corpus callosum, agenesis of, with abnormal genitalia [NCBI] 3.09808e-05
velofacioskeletal syndrome [NCBI] 3.09808e-05
microcephaly-cardiomyopathy [NCBI] 3.09808e-05
aredyld [NCBI] 3.09808e-05
syndactyly, type iv [NCBI] 3.09808e-05
dk phocomelia syndrome [NCBI] 3.09808e-05
achondrogenesis, type iii [NCBI] 3.09808e-05
beta-hydroxyisobutyryl coa deacylase, deficiency of [NCBI] 3.09808e-05
achondrogenesis, type iv [NCBI] 3.09808e-05
biemond syndrome ii [NCBI] 3.09808e-05
curved nail of fourth toe [NCBI] 3.09808e-05
renal, genital, and middle ear anomalies [NCBI] 3.09808e-05
ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis [NCBI] 3.09808e-05
mental retardation, x-linked, with brachydactyly and macroglossia [NCBI] 3.09808e-05
HPE7 [NCBI] 3.09808e-05
tibia, absence of, with polydactyly [NCBI] 3.09808e-05
pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease [NCBI] 3.09808e-05
hyper-beta-alaninemia [NCBI] 3.09808e-05
MRX93 [NCBI] 3.09808e-05
craniorhiny [NCBI] 3.09808e-05
sener syndrome [NCBI] 3.09808e-05
triglyceride storage disease, type ii [NCBI] 3.09808e-05
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye [NCBI] 3.09808e-05
rombo syndrome [NCBI] 3.09808e-05
radial-renal syndrome [NCBI] 3.09808e-05
scott craniodigital syndrome with mental retardation [NCBI] 3.09808e-05
intrauterine growth retardation with increased mitomycin c sensitivity [NCBI] 3.09808e-05
karak syndrome [NCBI] 3.09808e-05
chondrodysplasia punctata syndrome [NCBI] 3.09808e-05
thoracopelvic dysostosis [NCBI] 3.09808e-05
mental and growth retardation with amblyopia [NCBI] 3.09808e-05
epileptic encephalopathy, lennox-gastaut type [NCBI] 3.09808e-05
ARX [NCBI] 3.06445e-05
cutis laxa, autosomal recessive, type i [NCBI] 3.02899e-05
BDB1 [NCBI] 2.96056e-05
PCS [NCBI] 2.96056e-05
trismus-pseudocamptodactyly syndrome [NCBI] 2.96056e-05
pierson syndrome [NCBI] 2.96056e-05
MITF [NCBI] 2.9545e-05
aspartylglucosaminuria [NCBI] 2.93941e-05
MTTL1 [NCBI] 2.92283e-05
CHRNA7 [NCBI] 2.84903e-05
PEPC [NCBI] 2.84903e-05
FBXW4 [NCBI] 2.84903e-05
AP1B1 [NCBI] 2.84903e-05
H3F3A [NCBI] 2.84903e-05
PLEKHC1 [NCBI] 2.84903e-05
INCENP [NCBI] 2.84903e-05
SLC4A11 [NCBI] 2.84903e-05
POLR2A [NCBI] 2.84903e-05
GOT1 [NCBI] 2.84903e-05
EFEMP2 [NCBI] 2.84903e-05
USH1G [NCBI] 2.84903e-05
TDGF1 [NCBI] 2.84903e-05
BAK1 [NCBI] 2.84903e-05
MCC [NCBI] 2.84903e-05
lipin 1 [NCBI] 2.84903e-05
SMOH [NCBI] 2.84903e-05
MGP [NCBI] 2.84903e-05
EIF2B2 [NCBI] 2.84903e-05
CSH1 [NCBI] 2.84903e-05
PUS1 [NCBI] 2.84903e-05
DLG1 [NCBI] 2.84903e-05
GLI2 [NCBI] 2.84903e-05
SHOX2 [NCBI] 2.84903e-05
SEPT4 [NCBI] 2.84903e-05
PDGFC [NCBI] 2.84903e-05
FRAS1 [NCBI] 2.84903e-05
NR2F2 [NCBI] 2.84903e-05
FOXJ1 [NCBI] 2.84903e-05
kindlin 1 [NCBI] 2.84903e-05
lymphedema-distichiasis syndrome [NCBI] 2.84886e-05
ALPS [NCBI] 2.78667e-05
AVSD [NCBI] 2.73516e-05
USH1D [NCBI] 2.68124e-05
AMDM [NCBI] 2.68124e-05
sturge-weber syndrome [NCBI] 2.68124e-05
DA1 [NCBI] 2.68124e-05
PDV [NCBI] 2.68124e-05
CDPX2 [NCBI] 2.68061e-05
NPPA [NCBI] 2.67669e-05
CSF2RA [NCBI] 2.60395e-05
KLK5 [NCBI] 2.60395e-05
BDKRB2 [NCBI] 2.60395e-05
EN1 [NCBI] 2.60395e-05
SEPT5 [NCBI] 2.60395e-05
COX10 [NCBI] 2.60395e-05
WNT4 [NCBI] 2.60395e-05
ADAM10 [NCBI] 2.60395e-05
TLX3 [NCBI] 2.60395e-05
SESN1 [NCBI] 2.60395e-05
BTRC [NCBI] 2.60395e-05
ITPA [NCBI] 2.60395e-05
PSPH [NCBI] 2.60395e-05
NPR2 [NCBI] 2.60395e-05
SBDS [NCBI] 2.60395e-05
ACVR2B [NCBI] 2.60395e-05
SLC26A4 [NCBI] 2.56495e-05
MEB [NCBI] 2.56128e-05
LMNA [NCBI] 2.52423e-05
CPX [NCBI] 2.52249e-05
ESD [NCBI] 2.51801e-05
BDNF [NCBI] 2.49139e-05
SEMDJL [NCBI] 2.4863e-05
PWS [NCBI] 2.4552e-05
AOI [NCBI] 2.43484e-05
kindler syndrome [NCBI] 2.43484e-05
HTX1 [NCBI] 2.43484e-05
LDB3 [NCBI] 2.40989e-05
TOP3A [NCBI] 2.40989e-05
TEK [NCBI] 2.40989e-05
PAK2 [NCBI] 2.40989e-05
GAN [NCBI] 2.40989e-05
neuraminidase deficiency with beta-galactosidase deficiency [NCBI] 2.34334e-05
CFTR [NCBI] 2.33433e-05
hypertrichosis, anterior cervical [NCBI] 2.31342e-05
DTGA1 [NCBI] 2.31342e-05
spondylometaphyseal dysplasia with dentinogenesis imperfecta [NCBI] 2.31342e-05
acrocephalopolysyndactyly type iv [NCBI] 2.31342e-05
rhizomelic syndrome [NCBI] 2.31342e-05
diaphragmatic hernia 3 [NCBI] 2.31342e-05
fibrosis of extraocular muscles, congenital, with synergistic divergence [NCBI] 2.31342e-05
craniofacial dyssynostosis with short stature [NCBI] 2.31342e-05
oculocerebral hypopigmentation syndrome of preus [NCBI] 2.31342e-05
spondylocostal dysostosis with anal atresia and urogenital anomalies [NCBI] 2.31342e-05
MCOP3 [NCBI] 2.31342e-05
MRX46 [NCBI] 2.31342e-05
microcephaly, corpus callosum dysgenesis, and cleft lip/palate [NCBI] 2.31342e-05
brachymorphism-onychodysplasia-dysphalangism syndrome [NCBI] 2.31342e-05
paine syndrome [NCBI] 2.31342e-05
orotic aciduria ii [NCBI] 2.31342e-05
yemenite deaf-blind hypopigmentation syndrome [NCBI] 2.31342e-05
arthrogryposis and ectodermal dysplasia [NCBI] 2.31342e-05
rhizomelic dysplasia, patterson-lowry type [NCBI] 2.31342e-05
tetramelic monodactyly [NCBI] 2.31342e-05
hydrocephalus with cerebellar agenesis [NCBI] 2.31342e-05
abcd syndrome [NCBI] 2.31342e-05
MCOPS5 [NCBI] 2.31342e-05
micromelic bone dysplasia with cloverleaf skull [NCBI] 2.31342e-05
rapadilino syndrome [NCBI] 2.31342e-05
xeroderma pigmentosum ix [NCBI] 2.31342e-05
hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy [NCBI] 2.31342e-05
TCC [NCBI] 2.31342e-05
ankyloblepharon filiforme adnatum and cleft palate [NCBI] 2.31342e-05
scalp defects and postaxial polydactyly [NCBI] 2.31342e-05
CMD3A [NCBI] 2.31342e-05
spondylometaepiphyseal dysplasia, short limb-hand type [NCBI] 2.31342e-05
hypotonia-cystinuria syndrome [NCBI] 2.31342e-05
albinism, ocular, with sensorineural deafness [NCBI] 2.31342e-05
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation [NCBI] 2.31342e-05
brachydactyly, preaxial, with hallux varus and thumb abduction [NCBI] 2.31342e-05
pterygium syndrome, multiple, x-linked [NCBI] 2.31342e-05
sakoda complex [NCBI] 2.31342e-05
muscular dystrophy, hemizygous lethal type [NCBI] 2.31342e-05
spondyloenchondrodysplasia [NCBI] 2.26833e-05
FCMD [NCBI] 2.25176e-05
ZMPSTE24 [NCBI] 2.24953e-05
GLI [NCBI] 2.24953e-05
KRT16 [NCBI] 2.24953e-05
USH3A [NCBI] 2.24953e-05
TFAP2A [NCBI] 2.24953e-05
WNT7A [NCBI] 2.24953e-05
TGIF [NCBI] 2.24953e-05
SCN2A [NCBI] 2.24953e-05
CNTFR [NCBI] 2.24953e-05
TFAP2C [NCBI] 2.24953e-05
EVC2 [NCBI] 2.24953e-05
diastrophic dysplasia [NCBI] 2.23487e-05
congenital cataracts, facial dysmorphism, and neuropathy [NCBI] 2.21558e-05
HHT [NCBI] 2.1266e-05
GRHL3 [NCBI] 2.11312e-05
FACL4 [NCBI] 2.11312e-05
LPIN2 [NCBI] 2.11312e-05
MAP2K1 [NCBI] 2.11312e-05
HOXA1 [NCBI] 2.11312e-05
ALDOA [NCBI] 2.11312e-05
EPAS1 [NCBI] 2.11312e-05
WNT1 [NCBI] 2.11312e-05
IGF2R [NCBI] 2.11312e-05
ADK [NCBI] 2.11312e-05
BCS1L [NCBI] 2.11312e-05
COMT [NCBI] 2.10596e-05
DWS [NCBI] 2.04344e-05
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant [NCBI] 2.01906e-05
CHUK [NCBI] 1.99463e-05
CBL [NCBI] 1.99463e-05
DGUOK [NCBI] 1.99463e-05
COL4A1 [NCBI] 1.99463e-05
PVRL1 [NCBI] 1.99463e-05
RECQL4 [NCBI] 1.99463e-05
BBS4 [NCBI] 1.99463e-05
FOLR1 [NCBI] 1.99463e-05
LARGE [NCBI] 1.99463e-05
TGFBR1 [NCBI] 1.99463e-05
AKT2 [NCBI] 1.99463e-05
HSD17B4 [NCBI] 1.99463e-05
GALR1 [NCBI] 1.99463e-05
CACNA1C [NCBI] 1.99463e-05
SLC1A3 [NCBI] 1.99463e-05
ETS2 [NCBI] 1.99463e-05
POMGNT1 [NCBI] 1.99463e-05
BTHS [NCBI] 1.94204e-05
ARPKD [NCBI] 1.93143e-05
PGM1 [NCBI] 1.89005e-05
MYO5A [NCBI] 1.89005e-05
CXORF5 [NCBI] 1.89005e-05
MPI [NCBI] 1.89005e-05
APAF1 [NCBI] 1.89005e-05
RMRP [NCBI] 1.89005e-05
ZIC3 [NCBI] 1.89005e-05
SOST [NCBI] 1.89005e-05
FOXE1 [NCBI] 1.89005e-05
CPL [NCBI] 1.87521e-05
opsismodysplasia [NCBI] 1.87521e-05
distichiasis [NCBI] 1.87521e-05
CTAA1 [NCBI] 1.87521e-05
auriculocondylar syndrome [NCBI] 1.87521e-05
dentin dysplasia, type i [NCBI] 1.87521e-05
USH2B [NCBI] 1.87521e-05
amyotrophy, neurogenic scapuloperoneal, new england type [NCBI] 1.87521e-05
CNC2 [NCBI] 1.87521e-05
HTC2 [NCBI] 1.87521e-05
HSCR1 [NCBI] 1.85239e-05
BDC [NCBI] 1.84191e-05
kniest dysplasia [NCBI] 1.84191e-05
WGN1 [NCBI] 1.84191e-05
insulin-like growth factor i deficiency [NCBI] 1.82615e-05
OODD [NCBI] 1.82615e-05
HPE5 [NCBI] 1.82615e-05
carbimazole sensitivity [NCBI] 1.82615e-05
DDSH [NCBI] 1.82615e-05
FIDD [NCBI] 1.82615e-05
eem syndrome [NCBI] 1.82615e-05
macrocephaly, benign familial [NCBI] 1.82615e-05
optic nerve hypoplasia, bilateral [NCBI] 1.82615e-05
CRS2 [NCBI] 1.82615e-05
oroacral syndrome, verloes-koulischer type [NCBI] 1.82615e-05
nevo syndrome [NCBI] 1.82615e-05
lathosterolosis [NCBI] 1.82615e-05
humerospinal dysostosis [NCBI] 1.82615e-05
taurodontism [NCBI] 1.82615e-05
coarctation of aorta [NCBI] 1.82615e-05
nuchal bleb, familial [NCBI] 1.82615e-05
HANAC [NCBI] 1.82615e-05
TLPD [NCBI] 1.82615e-05
TS [NCBI] 1.82615e-05
craniosynostosis with ectopia lentis [NCBI] 1.82615e-05
roifman syndrome [NCBI] 1.82615e-05
USH1F [NCBI] 1.82615e-05
ATCAY [NCBI] 1.82615e-05
MADB [NCBI] 1.82615e-05
chylothorax, congenital [NCBI] 1.82615e-05
CDHS [NCBI] 1.82615e-05
satoyoshi syndrome [NCBI] 1.82615e-05
CCD [NCBI] 1.81024e-05
MYO15A [NCBI] 1.79657e-05
MSX2 [NCBI] 1.79657e-05
SRA2 [NCBI] 1.79657e-05
ACP1 [NCBI] 1.79657e-05
TIMM8A [NCBI] 1.79657e-05
TP73 [NCBI] 1.79657e-05
KRAS [NCBI] 1.74373e-05
COL18A1 [NCBI] 1.71217e-05
MAN2B1 [NCBI] 1.71217e-05
SPINK5 [NCBI] 1.71217e-05
GATA3 [NCBI] 1.71217e-05
LDHA [NCBI] 1.71217e-05
LWD [NCBI] 1.68497e-05
NFNS [NCBI] 1.68142e-05
chondrodysplasia punctata, autosomal dominant [NCBI] 1.68142e-05
XPD [NCBI] 1.68142e-05
SMA1 [NCBI] 1.67797e-05
SVAS [NCBI] 1.66895e-05
LCA1 [NCBI] 1.64846e-05
DBA [NCBI] 1.63589e-05
BMPR1A [NCBI] 1.63533e-05
AP3B1 [NCBI] 1.63533e-05
NEU1 [NCBI] 1.63533e-05
EIF2B5 [NCBI] 1.63533e-05
ERCC1 [NCBI] 1.63533e-05
DLK1 [NCBI] 1.63533e-05
KLK7 [NCBI] 1.63533e-05
SLC7A9 [NCBI] 1.63533e-05
ATF4 [NCBI] 1.63533e-05
GJA5 [NCBI] 1.56488e-05
RAB27A [NCBI] 1.56488e-05
GATA4 [NCBI] 1.56488e-05
FANCD2 [NCBI] 1.56488e-05
MADD [NCBI] 1.54975e-05
CFTD [NCBI] 1.53544e-05
IDUA [NCBI] 1.52066e-05
IH [NCBI] 1.51868e-05
ERCC3 [NCBI] 1.49991e-05
PDGFRA [NCBI] 1.49991e-05
PCDH15 [NCBI] 1.49991e-05
SLC26A2 [NCBI] 1.49991e-05
LTC4S [NCBI] 1.49991e-05
subglottic bar [NCBI] 1.48012e-05
keratitis, hereditary [NCBI] 1.48012e-05
corneal dystrophy and perceptive deafness [NCBI] 1.48012e-05
MLASA [NCBI] 1.48012e-05
osteolysis, hereditary multicentric [NCBI] 1.48012e-05
angioma serpiginosum, autosomal dominant [NCBI] 1.48012e-05
ED3 [NCBI] 1.48012e-05
spondyloperipheral dysplasia [NCBI] 1.48012e-05
ehlers-danlos syndrome, progeroid form [NCBI] 1.48012e-05
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly [NCBI] 1.48012e-05
CVG/MR [NCBI] 1.48012e-05
bile acid synthesis defect, congenital, 4 [NCBI] 1.48012e-05
endocardial fibroelastosis [NCBI] 1.48012e-05
polydactyly, preaxial iv [NCBI] 1.48012e-05
MCOP2 [NCBI] 1.48012e-05
PURE&apos [NCBI] 1.48012e-05
knuckle pads, leukonychia, and sensorineural deafness [NCBI] 1.48012e-05
EFE [NCBI] 1.45629e-05
GK [NCBI] 1.43968e-05
spondyloepimetaphyseal dysplasia, strudwick type [NCBI] 1.4022e-05
AN2 [NCBI] 1.38661e-05
orotic aciduria i [NCBI] 1.38361e-05
IRF6 [NCBI] 1.38361e-05
MFS [NCBI] 1.36976e-05
PSACH [NCBI] 1.33652e-05
USH1C [NCBI] 1.33119e-05
LBR [NCBI] 1.28203e-05
PHOX2B [NCBI] 1.28203e-05
CDKN1C [NCBI] 1.28203e-05
GJA8 [NCBI] 1.28203e-05
immunoosseous dysplasia, schimke type [NCBI] 1.28024e-05
ALDH2 [NCBI] 1.23579e-05
XIST [NCBI] 1.23579e-05
PRKAR1A [NCBI] 1.23579e-05
BAX [NCBI] 1.23579e-05
DKC1 [NCBI] 1.23579e-05
mental retardation, fra12a type [NCBI] 1.21728e-05
macrocephaly/autism syndrome [NCBI] 1.21728e-05
steatocystoma multiplex [NCBI] 1.21728e-05
neural tube defects, x-linked [NCBI] 1.21728e-05
BJS [NCBI] 1.21728e-05
peroxisomal acyl-coa oxidase deficiency [NCBI] 1.21728e-05
encephalopathy, ethylmalonic [NCBI] 1.21728e-05
polymicrogyria, bilateral frontoparietal [NCBI] 1.21728e-05
witkop syndrome [NCBI] 1.21728e-05
bowing of legs, anterior, with dwarfism [NCBI] 1.21728e-05
syndactyly, type iii [NCBI] 1.21728e-05
peters anomaly [NCBI] 1.21728e-05
MRXSL [NCBI] 1.21728e-05
SPS [NCBI] 1.21728e-05
ramon syndrome [NCBI] 1.21728e-05
fumarase deficiency [NCBI] 1.21728e-05
mevalonic aciduria [NCBI] 1.21728e-05
DHCR7 [NCBI] 1.19216e-05
PEPD [NCBI] 1.19216e-05
MYCN [NCBI] 1.19216e-05
LRP5 [NCBI] 1.19216e-05
MVK [NCBI] 1.19216e-05
MYH9 [NCBI] 1.19216e-05
ADA [NCBI] 1.15206e-05
AGTR1 [NCBI] 1.1509e-05
SLC25A4 [NCBI] 1.1509e-05
HMGA2 [NCBI] 1.1509e-05
AFP [NCBI] 1.13856e-05
NPS [NCBI] 1.13266e-05
mannosidosis, alpha b, lysosomal [NCBI] 1.12872e-05
AS [NCBI] 1.12202e-05
H19 [NCBI] 1.11179e-05
SOCS1 [NCBI] 1.11179e-05
SCN1A [NCBI] 1.11179e-05
GUSB [NCBI] 1.1044e-05
PEMT [NCBI] 1.07465e-05
FY [NCBI] 1.07465e-05
SLC3A1 [NCBI] 1.07465e-05
TCOF [NCBI] 1.05347e-05
BMP2 [NCBI] 1.03932e-05
FOXO1A [NCBI] 1.03932e-05
SOX10 [NCBI] 1.03932e-05
ARSB [NCBI] 1.03932e-05
xeroderma pigmentosum, complementation group e [NCBI] 1.0094e-05
amme complex [NCBI] 1.0094e-05
VMCM [NCBI] 1.0094e-05
pseudodiastrophic dysplasia [NCBI] 1.0094e-05
NR5A1 [NCBI] 1.00564e-05
AKT1 [NCBI] 9.7349e-06
ERCC5 [NCBI] 9.7349e-06
XPC [NCBI] 9.7349e-06
FKRP [NCBI] 9.4276e-06
DHFR [NCBI] 9.38059e-06
CNC1 [NCBI] 9.24629e-06
CAV3 [NCBI] 9.13345e-06
oca2 gene [NCBI] 9.13345e-06
AHO [NCBI] 9.02041e-06
jejunal atresia [NCBI] 8.88834e-06
short rib-polydactyly syndrome, type iii [NCBI] 8.88834e-06
OTSC1 [NCBI] 8.88834e-06
HLA-A [NCBI] 8.85155e-06
EDNRB [NCBI] 8.85155e-06
ornithine transcarbamylase deficiency, hyperammonemia due to [NCBI] 8.64609e-06
JAG1 [NCBI] 8.58109e-06
short rib-polydactyly syndrome, type iv [NCBI] 8.55714e-06
hypospadias, autosomal [NCBI] 8.40593e-06
TD2 [NCBI] 8.40593e-06
MDC1C [NCBI] 8.40593e-06
GDD [NCBI] 8.40593e-06
microcephaly with spastic quadriplegia [NCBI] 8.40593e-06
SCZD1 [NCBI] 8.40593e-06
elejalde disease [NCBI] 8.40593e-06
PCD [NCBI] 8.35742e-06
FHIT [NCBI] 8.32132e-06
BMP4 [NCBI] 8.32132e-06
VASP [NCBI] 8.32132e-06
GAMT [NCBI] 8.32132e-06
SCZD [NCBI] 8.25117e-06
MHS1 [NCBI] 8.17269e-06
IGF1 [NCBI] 8.07158e-06
HSS [NCBI] 8.02666e-06
USH2A [NCBI] 8.02666e-06
UCMD [NCBI] 8.02666e-06
GLB1 [NCBI] 7.83125e-06
NR0B1 [NCBI] 7.83125e-06
GSR [NCBI] 7.83125e-06
NF1 [NCBI] 7.81763e-06
cutis laxa, corneal clouding, and mental retardation [NCBI] 7.69105e-06
maxillonasal dysplasia, binder type [NCBI] 7.69105e-06
AUTS4 [NCBI] 7.69105e-06
lethal congenital contracture syndrome 1 [NCBI] 7.69105e-06
leukonychia totalis [NCBI] 7.69105e-06
spondyloepiphyseal dysplasia tarda, toledo type [NCBI] 7.69105e-06
aortic valve disease [NCBI] 7.52404e-06
NDP [NCBI] 7.37669e-06
hemangioma-thrombocytopenia syndrome [NCBI] 7.28159e-06
SLC2A2 [NCBI] 7.16148e-06
DSG1 [NCBI] 7.16148e-06
LOX [NCBI] 7.16148e-06
CZP1 [NCBI] 7.00996e-06
VLDLRCH [NCBI] 7.00996e-06
HPS2 [NCBI] 7.00996e-06
RMS1 [NCBI] 7.00996e-06
MODY2 [NCBI] 7.00996e-06
emanuel syndrome [NCBI] 7.00996e-06
winchester syndrome [NCBI] 7.00996e-06
NYS1 [NCBI] 7.00996e-06
XPB [NCBI] 7.00996e-06
ENG [NCBI] 6.95374e-06
RET [NCBI] 6.90234e-06
FANCA [NCBI] 6.75307e-06
RS1 [NCBI] 6.75307e-06
BRAF [NCBI] 6.75307e-06
POLG [NCBI] 6.75307e-06
OA1 [NCBI] 6.75307e-06
PHA [NCBI] 6.59296e-06
VWM [NCBI] 6.59296e-06
SMN2 [NCBI] 6.37153e-06
PDS [NCBI] 6.1281e-06
refsum disease, infantile form [NCBI] 5.95634e-06
XPG [NCBI] 5.84074e-06
ASMD [NCBI] 5.84074e-06
CDG1B [NCBI] 5.84074e-06
BOCD [NCBI] 5.84074e-06
GS1 [NCBI] 5.84074e-06
dentinogenesis imperfecta, shields type iii [NCBI] 5.84074e-06
TFPI [NCBI] 5.56559e-06
MMP2 [NCBI] 5.51907e-06
FH [NCBI] 5.51907e-06
DM2 [NCBI] 5.46219e-06
galactosemia [NCBI] 5.46219e-06
hyperglycerolemia [NCBI] 5.36779e-06
mitochondrial complex i deficiency [NCBI] 5.36779e-06
ND [NCBI] 5.34882e-06
MLL [NCBI] 5.21336e-06
FOXP3 [NCBI] 5.0672e-06
CMT1A [NCBI] 5.00897e-06
factor vii deficiency [NCBI] 4.92528e-06
FGF23 [NCBI] 4.92528e-06
IRID1 [NCBI] 4.85265e-06
de sanctis-cacchione syndrome [NCBI] 4.85265e-06
ADHR [NCBI] 4.85265e-06
gracile syndrome [NCBI] 4.85265e-06
XPV [NCBI] 4.85265e-06
LI1 [NCBI] 4.81985e-06
hypophosphatemic rickets, x-linked dominant [NCBI] 4.81985e-06
osteogenesis imperfecta, type i [NCBI] 4.80612e-06
CPI [NCBI] 4.79044e-06
APOA1 [NCBI] 4.65345e-06
WT1 [NCBI] 4.39663e-06
PLP1 [NCBI] 4.39663e-06
down syndrome [NCBI] 4.20299e-06
CDG1A [NCBI] 4.20299e-06
ADM [NCBI] 4.15643e-06
CHH [NCBI] 4.07456e-06
iminoglycinuria [NCBI] 4.02817e-06
spondyloepimetaphyseal dysplasia with multiple dislocations [NCBI] 4.02817e-06
dupuytren contracture [NCBI] 4.02817e-06
DA5 [NCBI] 4.02817e-06
spinocerebellar ataxia 29 [NCBI] 4.02817e-06
MCOP1 [NCBI] 4.02817e-06
encephalopathy, neonatal severe, due to mecp2 mutations [NCBI] 4.01262e-06
ISS [NCBI] 4.01262e-06
IRID2 [NCBI] 4.01262e-06
GS2 [NCBI] 4.01262e-06
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities [NCBI] 4.01262e-06
XPF [NCBI] 4.01262e-06
OSCS [NCBI] 3.9303e-06
schimmelpenning-feuerstein-mims syndrome [NCBI] 3.9303e-06
ELN [NCBI] 3.70575e-06
ABCC8 [NCBI] 3.49903e-06
autonomic control, congenital failure of [NCBI] 3.42955e-06
fragile x mental retardation syndrome [NCBI] 3.37086e-06
adrenoleukodystrophy, autosomal neonatal form [NCBI] 3.35511e-06
neuraminidase deficiency [NCBI] 3.35511e-06
hyperprolinemia, type i [NCBI] 3.29587e-06
sialuria [NCBI] 3.29587e-06
USH3 [NCBI] 3.29587e-06
hydrocephalus [NCBI] 3.29587e-06
ACCPN [NCBI] 3.29587e-06
FRA16A [NCBI] 3.29587e-06
renal cysts and diabetes syndrome [NCBI] 3.29587e-06
deafness, congenital, with keratopachydermia and constrictions of fingers and toes [NCBI] 3.29587e-06
3-@methylglutaconic aciduria, type i [NCBI] 3.29587e-06
CNTF [NCBI] 3.26073e-06
HS [NCBI] 3.20847e-06
XPA [NCBI] 3.05456e-06
ARSA [NCBI] 3.02684e-06
HGPS [NCBI] 3.01267e-06
AHR [NCBI] 2.95195e-06
TYR [NCBI] 2.93944e-06
pyruvate decarboxylase deficiency [NCBI] 2.78708e-06
PGL1 [NCBI] 2.78708e-06
PC1 [NCBI] 2.68337e-06
myoclonic epilepsy, neonatal, with suppression-burst pattern [NCBI] 2.68337e-06
morquio syndrome b [NCBI] 2.68337e-06
langer mesomelic dysplasia [NCBI] 2.68337e-06
HSCR2 [NCBI] 2.68337e-06
OCRL [NCBI] 2.67323e-06
ATS [NCBI] 2.52817e-06
TD1 [NCBI] 2.34202e-06
caffey disease [NCBI] 2.1602e-06
CFEOM1 [NCBI] 2.1602e-06
d-bifunctional protein deficiency [NCBI] 2.1602e-06
usher syndrome, type i [NCBI] 2.03635e-06
mitochondrial complex iv deficiency [NCBI] 2.03635e-06
CMDR [NCBI] 1.96358e-06
ASD1 [NCBI] 1.96358e-06
metatropic dwarfism [NCBI] 1.96358e-06
STHAG4 [NCBI] 1.96358e-06
HBD [NCBI] 1.96358e-06
sclerotylosis [NCBI] 1.96358e-06
GNAS [NCBI] 1.91946e-06
DKC [NCBI] 1.80717e-06
exostoses, multiple, type i [NCBI] 1.80717e-06
HEXA [NCBI] 1.80041e-06
ichthyosis, x-linked [NCBI] 1.80041e-06
molybdenum cofactor deficiency [NCBI] 1.71441e-06
SPD1 [NCBI] 1.71441e-06
denys-drash syndrome [NCBI] 1.71441e-06
pituitary dwarfism iii [NCBI] 1.71441e-06
DGI1 [NCBI] 1.71441e-06
leiomyoma, hereditary multiple, of skin [NCBI] 1.71441e-06
MTS [NCBI] 1.71441e-06
mannosidosis, beta a, lysosomal [NCBI] 1.71441e-06
FTNS [NCBI] 1.71441e-06
cutis laxa, autosomal recessive, type ii [NCBI] 1.71441e-06
ehlers-danlos syndrome, type vii, autosomal recessive [NCBI] 1.71441e-06
NCIE1 [NCBI] 1.71441e-06
ehlers-danlos syndrome, type iv, autosomal dominant [NCBI] 1.58698e-06
cystinuria [NCBI] 1.58698e-06
MPZ [NCBI] 1.52718e-06
PI [NCBI] 1.40608e-06
HD [NCBI] 1.39414e-06
ehlers-danlos syndrome, type i [NCBI] 1.37773e-06
phosphoribosylpyrophosphate synthetase superactivity [NCBI] 1.33632e-06
neuropathy, congenital hypomyelinating [NCBI] 1.33632e-06
glucose transport defect, blood-brain barrier [NCBI] 1.33632e-06
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis [NCBI] 1.33632e-06
EVC [NCBI] 1.2765e-06
RCDP1 [NCBI] 1.18002e-06
apert syndrome [NCBI] 1.18002e-06
FIH [NCBI] 1.18002e-06
SEDC [NCBI] 1.18002e-06
ABCG2 [NCBI] 1.07279e-06
hurler syndrome [NCBI] 1.03696e-06
NETH [NCBI] 1.01794e-06
INAD1 [NCBI] 1.01794e-06
CORD2 [NCBI] 1.01794e-06
factor xii deficiency [NCBI] 1.01794e-06
pycnodysostosis [NCBI] 1.01794e-06
EVA [NCBI] 9.94502e-07
SMA3 [NCBI] 9.94502e-07
visceral neuropathy, familial, autosomal recessive [NCBI] 9.27165e-07
proteus syndrome [NCBI] 7.98348e-07
MCPH1 [NCBI] 7.5263e-07
MSD [NCBI] 6.62847e-07
FPLD2 [NCBI] 6.62847e-07
OCA1A [NCBI] 5.73865e-07
phenylketonuria [NCBI] 5.7067e-07
FBS [NCBI] 5.34798e-07
PKD1 [NCBI] 5.26861e-07
mucopolysaccharidosis type vii [NCBI] 5.183e-07
MEN2B [NCBI] 5.183e-07
meningioma, familial [NCBI] 4.46574e-07
BCNS [NCBI] 4.40056e-07
LAD [NCBI] 3.89117e-07
AMC [NCBI] 3.65904e-07
IPEX [NCBI] 3.59688e-07
CMDD [NCBI] 3.59688e-07
ichthyosis congenita, harlequin fetus type [NCBI] 3.59688e-07
PDP [NCBI] 3.59688e-07
VMD [NCBI] 3.36839e-07
ACC [NCBI] 3.36702e-07
HMBS [NCBI] 3.29885e-07
cerebrotendinous xanthomatosis [NCBI] 2.76292e-07
CHNG2 [NCBI] 2.76292e-07
FA [NCBI] 2.46423e-07
ORW2 [NCBI] 2.23229e-07
ACH [NCBI] 2.12283e-07
mucopolysaccharidosis type iiib [NCBI] 1.21902e-07
BHD [NCBI] 1.21902e-07
PPAC [NCBI] 1.21902e-07
methylmalonic aciduria and homocystinuria, cblc type [NCBI] 1.21902e-07
argininemia [NCBI] 1.21902e-07
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency [NCBI] 1.21902e-07
deafness, conductive, with stapes fixation [NCBI] 1.21902e-07
COMP [NCBI] 1.11044e-07
FMR1 [NCBI] 7.3183e-08
PLG [NCBI] 6.89451e-08
AMH [NCBI] 6.13909e-08
DURS1 [NCBI] 5.52805e-08
HNPP [NCBI] 5.40597e-08
HNA [NCBI] 5.26517e-08
NPHS1 [NCBI] 5.26517e-08
klippel-feil syndrome, autosomal dominant [NCBI] 2.7616e-08
oculocerebral syndrome with hypopigmentation [NCBI] 2.7616e-08
hairy elbows [NCBI] 2.7616e-08
JPS [NCBI] 2.43349e-08
cutis laxa, x-linked [NCBI] 1.28021e-08
GAN1 [NCBI] 1.28021e-08
crigler-najjar syndrome [NCBI] 1.28021e-08