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01 Growth Disorders [NCBI]

Gene


 Gene Link Information
Gain		 01
SHOX [NCBI] 0.000429955
RMRP [NCBI] 0.000426652
MRXSAB [NCBI] 0.000330389
COHEN2 [NCBI] 0.000330389
MRSS [NCBI] 0.000330389
MRXSA [NCBI] 0.000330389
JBS [NCBI] 0.000330389
SCKL2 [NCBI] 0.000330389
SCKL3 [NCBI] 0.000330389
SCAR5 [NCBI] 0.000269666
GHR [NCBI] 0.00026828
SCAR2 [NCBI] 0.000246761
NSD1 [NCBI] 0.000223341
MEG3 [NCBI] 0.000161543
H19 [NCBI] 0.000143561
GER [NCBI] 0.000138606
GH1 [NCBI] 0.000115995
AIR [NCBI] 0.000102284
CSH1 [NCBI] 8.51427e-05
IGF1 [NCBI] 7.31853e-05
GPC3 [NCBI] 6.71644e-05
GHRH [NCBI] 6.37907e-05
IGFBP3 [NCBI] 6.26738e-05
IGFALS [NCBI] 6.17769e-05
AIS [NCBI] 5.86395e-05
STAT5B [NCBI] 5.4593e-05
INSR [NCBI] 4.86226e-05
MTPN [NCBI] 4.3557e-05
COPG2 [NCBI] 4.32311e-05
POU1F1 [NCBI] 3.55442e-05
GRB10 [NCBI] 3.38948e-05
FGFR3 [NCBI] 3.32638e-05
TAZ [NCBI] 3.22902e-05
PTPN11 [NCBI] 3.17299e-05
EIF2AK3 [NCBI] 2.5326e-05
IHH [NCBI] 2.30649e-05
CHD7 [NCBI] 2.28415e-05
PRL [NCBI] 2.16834e-05
ADAMTS10 [NCBI] 1.99357e-05
IGFBP1 [NCBI] 1.97709e-05
IGF1R [NCBI] 1.88577e-05
ESCO2 [NCBI] 1.85246e-05
PTPRS [NCBI] 1.79919e-05
ATP6V1B1 [NCBI] 1.58633e-05
MEST [NCBI] 1.56093e-05
TBCE [NCBI] 1.47489e-05
MAP2K2 [NCBI] 1.45522e-05
SHH [NCBI] 1.45522e-05
LIG1 [NCBI] 1.43886e-05
SOX3 [NCBI] 1.30049e-05
MNX1 [NCBI] 1.30049e-05
ZW10 [NCBI] 1.28538e-05
FBXW8 [NCBI] 1.28538e-05
CDKN1C [NCBI] 1.2486e-05
HESX1 [NCBI] 1.22006e-05
SOCS2 [NCBI] 1.21123e-05
RECQL4 [NCBI] 1.21123e-05
SBDS [NCBI] 1.17027e-05
FOXL2 [NCBI] 1.10722e-05
IGF2 [NCBI] 1.08064e-05
ARID5B [NCBI] 1.04742e-05
SPAG6 [NCBI] 9.57667e-06
RGS10 [NCBI] 9.57667e-06
NBN [NCBI] 9.44129e-06
ZWINT [NCBI] 8.99414e-06
FMR1 [NCBI] 8.84889e-06
STAT5A [NCBI] 8.74242e-06
PPP1R14C [NCBI] 8.56123e-06
CNTN4 [NCBI] 8.56123e-06
EGFL6 [NCBI] 8.56123e-06
JAK2 [NCBI] 8.43055e-06
FBN1 [NCBI] 8.27498e-06
JARID1C [NCBI] 8.21643e-06
HELLS [NCBI] 8.21643e-06
WHSC2 [NCBI] 7.92986e-06
INCENP [NCBI] 7.92986e-06
ABCB6 [NCBI] 7.92986e-06
LTK [NCBI] 7.92986e-06
DMRT2 [NCBI] 7.92986e-06
VDR [NCBI] 7.652e-06
MGAT2 [NCBI] 7.47042e-06
HERC2 [NCBI] 7.28019e-06
SHANK3 [NCBI] 7.28019e-06
TKT [NCBI] 7.28019e-06
PQBP1 [NCBI] 7.28019e-06
DYM [NCBI] 7.10915e-06
ACADS [NCBI] 6.95379e-06
AGGF1 [NCBI] 6.95379e-06
NHEJ1 [NCBI] 6.95379e-06
ZNF148 [NCBI] 6.81149e-06
FLNB [NCBI] 6.81149e-06
IL25 [NCBI] 6.81149e-06
JARID1B [NCBI] 6.81149e-06
IRS1 [NCBI] 6.7272e-06
COMP [NCBI] 6.70136e-06
HYAL1 [NCBI] 6.68023e-06
TSHB [NCBI] 6.68023e-06
PHKA2 [NCBI] 6.55844e-06
BRD4 [NCBI] 6.55844e-06
SOCS3 [NCBI] 6.55659e-06
GNAS [NCBI] 6.54092e-06
ARSE [NCBI] 6.44484e-06
GHRL [NCBI] 6.43343e-06
PEG3 [NCBI] 6.33841e-06
PTS [NCBI] 6.33841e-06
SMARCAL1 [NCBI] 6.2383e-06
NR2F2 [NCBI] 6.2383e-06
ACMSD [NCBI] 6.14382e-06
SLC4A4 [NCBI] 6.14382e-06
SIAH1 [NCBI] 6.14382e-06
NIPBL [NCBI] 5.96943e-06
PROP1 [NCBI] 5.96943e-06
BRAF [NCBI] 5.92309e-06
HSD17B2 [NCBI] 5.88859e-06
OTX2 [NCBI] 5.81147e-06
IGFBP7 [NCBI] 5.73775e-06
GHRHR [NCBI] 5.73775e-06
ROR2 [NCBI] 5.66715e-06
ZIC2 [NCBI] 5.66715e-06
ZMPSTE24 [NCBI] 5.5994e-06
FGD1 [NCBI] 5.47166e-06
MATN1 [NCBI] 5.4519e-06
MAP2K1 [NCBI] 5.44108e-06
FUT8 [NCBI] 5.41128e-06
BGN [NCBI] 5.41128e-06
DMRT1 [NCBI] 5.41128e-06
CLCN5 [NCBI] 5.35302e-06
CALCR [NCBI] 5.35302e-06
CENPE [NCBI] 5.29673e-06
BBS1 [NCBI] 5.29673e-06
GHSR [NCBI] 5.24229e-06
WHSC1 [NCBI] 5.24229e-06
CENPC1 [NCBI] 5.1385e-06
MCPH1 [NCBI] 5.08895e-06
PEX1 [NCBI] 5.04085e-06
SKI [NCBI] 4.99411e-06
CA2 [NCBI] 4.99411e-06
GSR [NCBI] 4.94865e-06
BTC [NCBI] 4.77846e-06
CHRNA4 [NCBI] 4.77846e-06
CYP2A6 [NCBI] 4.73853e-06
ABCG5 [NCBI] 4.66149e-06
THRB [NCBI] 4.62429e-06
ATP8B1 [NCBI] 4.58792e-06
FLNA [NCBI] 4.58792e-06
ABCG8 [NCBI] 4.58792e-06
ABCA3 [NCBI] 4.55234e-06
ERCC2 [NCBI] 4.53357e-06
PRKACA [NCBI] 4.51753e-06
ALB [NCBI] 4.45646e-06
ACP1 [NCBI] 4.38529e-06
TRH [NCBI] 4.3557e-06
MGAT3 [NCBI] 4.32302e-06
NR0B1 [NCBI] 4.32302e-06
SMAD1 [NCBI] 4.29276e-06
CENPB [NCBI] 4.23389e-06
SMO [NCBI] 4.23389e-06
FOXP2 [NCBI] 4.20524e-06
GNRHR [NCBI] 4.12225e-06
CTSA [NCBI] 4.12225e-06
ATRX [NCBI] 4.09552e-06
WFDC5 [NCBI] 3.99284e-06
MYOG [NCBI] 3.96818e-06
IRF6 [NCBI] 3.94389e-06
CRYAB [NCBI] 3.91996e-06
HRAS [NCBI] 3.88916e-06
DDB1 [NCBI] 3.85028e-06
HES1 [NCBI] 3.85028e-06
SLC37A4 [NCBI] 3.82772e-06
OCA2 [NCBI] 3.80548e-06
HSD11B1 [NCBI] 3.78355e-06
ELN [NCBI] 3.76191e-06
IL2RG [NCBI] 3.74058e-06
PTH [NCBI] 3.73881e-06
IL5 [NCBI] 3.71952e-06
IL23A [NCBI] 3.69875e-06
BLM [NCBI] 3.67825e-06
ZBTB16 [NCBI] 3.65801e-06
GLI3 [NCBI] 3.59882e-06
SLC12A3 [NCBI] 3.57959e-06
IL1R1 [NCBI] 3.52325e-06
PANK2 [NCBI] 3.52325e-06
SSTR5 [NCBI] 3.50492e-06
IL6 [NCBI] 3.39679e-06
HSD11B2 [NCBI] 3.33267e-06
PAFAH1B1 [NCBI] 3.30042e-06
PHEX [NCBI] 3.25329e-06
UBE3A [NCBI] 3.17785e-06
SHBG [NCBI] 3.13865e-06
CREB1 [NCBI] 3.05088e-06
RUNX2 [NCBI] 2.9464e-06
CD79A [NCBI] 2.93385e-06
RAD50 [NCBI] 2.93385e-06
CD40 [NCBI] 2.87261e-06
NOD2 [NCBI] 2.85839e-06
AMH [NCBI] 2.79095e-06
SOX9 [NCBI] 2.74625e-06
NOG [NCBI] 2.74625e-06
NPY [NCBI] 2.68459e-06
TWIST1 [NCBI] 2.60986e-06
NR3C1 [NCBI] 2.60986e-06
SOCS1 [NCBI] 2.44025e-06
GPX1 [NCBI] 2.4314e-06
MRE11A [NCBI] 2.37945e-06
NEFL [NCBI] 2.35419e-06
SRY [NCBI] 2.26534e-06
JAG1 [NCBI] 2.26534e-06
CD22 [NCBI] 2.24208e-06
AREG [NCBI] 2.15285e-06
BID [NCBI] 2.13144e-06
CYP19A1 [NCBI] 2.0692e-06
DNASE1 [NCBI] 2.0692e-06
GRB2 [NCBI] 2.05576e-06
BMP4 [NCBI] 2.04246e-06
CYBA [NCBI] 2.02275e-06
JAK1 [NCBI] 1.98422e-06
RETN [NCBI] 1.87508e-06
CFTR [NCBI] 1.8465e-06
LMNA [NCBI] 1.84636e-06
ADAM17 [NCBI] 1.84069e-06
CYBB [NCBI] 1.82384e-06
EGF [NCBI] 1.78554e-06
FGF23 [NCBI] 1.75864e-06
CXCL1 [NCBI] 1.66202e-06
WRN [NCBI] 1.64745e-06
ERCC1 [NCBI] 1.59088e-06
XRCC5 [NCBI] 1.48956e-06
ATR [NCBI] 1.39653e-06
PRNP [NCBI] 1.39265e-06
AVP [NCBI] 1.26348e-06
LEP [NCBI] 1.17633e-06
MECP2 [NCBI] 1.14532e-06
KRAS [NCBI] 1.07749e-06
ADIPOQ [NCBI] 1.0522e-06
NAT2 [NCBI] 9.80162e-07
ATM [NCBI] 9.72496e-07
TTR [NCBI] 8.76155e-07
SERPINE1 [NCBI] 8.06228e-07
ACP5 [NCBI] 7.15343e-07
GJB2 [NCBI] 6.44391e-07
APOB [NCBI] 6.39344e-07
CST3 [NCBI] 4.20564e-07
ADA [NCBI] 4.0113e-07
BRCA1 [NCBI] 2.86652e-07
AFP [NCBI] 2.41186e-07
SOD1 [NCBI] 1.5976e-07
PCNA [NCBI] 1.20789e-07
BDNF [NCBI] 1.18275e-07
TP53 [NCBI] 1.03961e-07
MSH2 [NCBI] 9.92117e-08
TH [NCBI] 9.50793e-08
TNF [NCBI] 8.96862e-08
ACHE [NCBI] 8.25848e-08
LPL [NCBI] 7.70991e-08
NGF [NCBI] 6.32703e-08
EPO [NCBI] 6.21689e-08
AR [NCBI] 3.98788e-08



OMIM


 OMIM Link Information
gain		 01
SRS [NCBI] 0.0201531
dubowitz syndrome [NCBI] 0.00475674
kabuki syndrome [NCBI] 0.00429165
ear, patella, short stature syndrome [NCBI] 0.00196826
apnea, obstructive sleep [NCBI] 0.0019554
RA [NCBI] 0.00174737
gapo syndrome [NCBI] 0.00157306
weaver syndrome [NCBI] 0.00142008
marden-walker syndrome [NCBI] 0.00141216
SLE [NCBI] 0.00128688
proteus syndrome [NCBI] 0.00128394
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina [NCBI] 0.00117864
coffin-siris syndrome [NCBI] 0.00107971
hairy elbows [NCBI] 0.00100703
sotos syndrome [NCBI] 0.000869383
GHR [NCBI] 0.000868455
omodysplasia [NCBI] 0.000784996
GHRH [NCBI] 0.000755497
charge syndrome [NCBI] 0.000712826
GH1 [NCBI] 0.000644246
epiphyseal dysplasia, microcephaly, and nystagmus [NCBI] 0.000627113
MRXS12 [NCBI] 0.000606733
acromegaloid features, overgrowth, cleft palate, and hernia [NCBI] 0.000606733
abidi x-linked mental retardation syndrome [NCBI] 0.000606733
cataract, ataxia, short stature, and mental retardation [NCBI] 0.000606733
SCKL2 [NCBI] 0.000606733
SCKL3 [NCBI] 0.000606733
microcephaly-micromelia syndrome [NCBI] 0.000606733
armfield x-linked mental retardation syndrome [NCBI] 0.000606733
corpus callosum, agenesis of, with facial anomalies and robin sequence [NCBI] 0.000572456
syndactyly, type i, with microcephaly and mental retardation [NCBI] 0.000572456
SGBS1 [NCBI] 0.000531742
pitt syndrome [NCBI] 0.000457945
geleophysic dysplasia [NCBI] 0.000454122
faciogenital dysplasia [NCBI] 0.000416356
IH [NCBI] 0.000397463
microcephaly, autosomal dominant [NCBI] 0.000397463
natural killer cell deficiency, familial isolated [NCBI] 0.000392116
brooks-wisniewski-brown syndrome [NCBI] 0.000392116
SCAR5 [NCBI] 0.000392116
blepharophimosis with ptosis, syndactyly, and short stature [NCBI] 0.000392116
CDLS1 [NCBI] 0.000386258
skin creases, multiple benign ring-shaped, of limbs [NCBI] 0.000373363
progeroid syndrome, neonatal [NCBI] 0.000373363
floating-harbor syndrome [NCBI] 0.000368811
WBS [NCBI] 0.000354583
short stature, idiopathic, autosomal [NCBI] 0.000354096
IGFALS [NCBI] 0.000353485
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging [NCBI] 0.000351469
WHS [NCBI] 0.000341613
SDS [NCBI] 0.000341613
costello syndrome [NCBI] 0.000327429
RBS [NCBI] 0.000323322
pituitary dwarfism i [NCBI] 0.00031486
hyperimmunoglobulin e-recurrent infection syndrome, autosomal recessive [NCBI] 0.000313191
mental retardation with optic atrophy, deafness, and seizures [NCBI] 0.000313191
kaufman oculocerebrofacial syndrome [NCBI] 0.000313191
erythrokeratodermia variabilis 3 [NCBI] 0.000313191
amelogenesis imperfecta, hypoplastic type [NCBI] 0.000313191
spondylometaphyseal dysplasia, corner fracture type [NCBI] 0.000313191
BTHS [NCBI] 0.000302878
IS1 [NCBI] 0.000299998
SHOX [NCBI] 0.000295812
LWD [NCBI] 0.000293827
insulin-like growth factor i, resistance to [NCBI] 0.000277751
growth hormone insensitivity with immunodeficiency [NCBI] 0.000275656
growth hormone insensitivity syndrome [NCBI] 0.000266516
ISS [NCBI] 0.000266516
robinow syndrome, autosomal dominant [NCBI] 0.000265645
rosselli-gulienetti syndrome [NCBI] 0.00026311
MEHMO [NCBI] 0.00026311
SCAR2 [NCBI] 0.00026311
johnson neuroectodermal syndrome [NCBI] 0.00026311
adducted thumb-clubfoot syndrome [NCBI] 0.00026311
GRB10 [NCBI] 0.000262686
GPC3 [NCBI] 0.00026211
MRXHF1 [NCBI] 0.000252141
NS1 [NCBI] 0.000239737
opsismodysplasia [NCBI] 0.000226728
bruck syndrome 1 [NCBI] 0.000226728
chromosome 10q deletion syndrome [NCBI] 0.000226728
SLOS [NCBI] 0.000224687
peters-plus syndrome [NCBI] 0.000218565
menkes disease [NCBI] 0.000213176
growth-mental deficiency syndrome of myhre [NCBI] 0.000209811
cardiofaciocutaneous syndrome [NCBI] 0.000204924
gombo syndrome [NCBI] 0.000202263
say syndrome [NCBI] 0.000202263
nevo syndrome [NCBI] 0.000202263
NSD1 [NCBI] 0.000202158
HRD [NCBI] 0.000202147
cutis laxa, corneal clouding, and mental retardation [NCBI] 0.000198414
pygmy [NCBI] 0.000198414
pierre robin sequence with pectus excavatum and rib and scapular anomalies [NCBI] 0.000198414
cholestasis-lymphedema syndrome [NCBI] 0.000198414
spondyloepiphyseal dysplasia tarda, toledo type [NCBI] 0.000198414
chromosome 18q deletion syndrome [NCBI] 0.00019533
pterygia, mental retardation, and distinctive craniofacial features [NCBI] 0.000184297
larsen syndrome, recessive [NCBI] 0.000175432
BWS [NCBI] 0.000165287
STAT5B [NCBI] 0.000163786
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [NCBI] 0.000161594
marshall-smith syndrome [NCBI] 0.000161594
immunoosseous dysplasia, schimke type [NCBI] 0.000161476
SMMCI [NCBI] 0.000161476
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism [NCBI] 0.000159046
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities [NCBI] 0.000159046
subaortic stenosis--short stature syndrome [NCBI] 0.000159046
TTDP [NCBI] 0.000157873
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia [NCBI] 0.000156239
hennekam lymphangiectasia-lymphedema syndrome [NCBI] 0.000156239
short syndrome [NCBI] 0.000153412
microcephaly, hiatus hernia, and nephrotic syndrome [NCBI] 0.00013988
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth [NCBI] 0.00013988
omodysplasia, generalized form [NCBI] 0.00013988
spondyloepimetaphyseal dysplasia, sponastrime type [NCBI] 0.00013988
acrodysostosis [NCBI] 0.00013988
GO [NCBI] 0.00013988
donohue syndrome [NCBI] 0.000137347
KCS [NCBI] 0.000135082
EIF2AK3 [NCBI] 0.000135037
MEST [NCBI] 0.000129968
BDA6 [NCBI] 0.000128212
pituitary dwarfism iv [NCBI] 0.000128212
ACFD [NCBI] 0.000128212
bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features [NCBI] 0.000128212
mental retardation, buenos aires type [NCBI] 0.000128212
leopard syndrome 1 [NCBI] 0.000128185
PCA [NCBI] 0.00012572
THAS [NCBI] 0.00012572
IGF1 [NCBI] 0.000122829
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant [NCBI] 0.00012201
PTPRS [NCBI] 0.000121616
cutis laxa, autosomal recessive, type ii [NCBI] 0.000115002
insulin-like growth factor i deficiency [NCBI] 0.000114342
robin sequence with cleft mandible and limb anomalies [NCBI] 0.000114342
roifman syndrome [NCBI] 0.000114342
weill-marchesani syndrome, autosomal dominant [NCBI] 0.000114342
charge-like syndrome, x-linked [NCBI] 0.000114342
MCOPS1 [NCBI] 0.000113317
kenny-caffey syndrome, type 2 [NCBI] 0.000113317
fanconi renotubular syndrome [NCBI] 0.000113317
DMC [NCBI] 0.000111868
seckel syndrome 1 [NCBI] 0.000108938
MVA [NCBI] 0.000108938
TRPS2 [NCBI] 0.000107146
progeroid short stature with pigmented nevi [NCBI] 0.000104858
hawkinsinuria [NCBI] 0.000104858
LIG1 [NCBI] 0.000102655
DBQD [NCBI] 0.000102351
TAZ [NCBI] 0.000102177
OPTB3 [NCBI] 0.000101155
BGS [NCBI] 9.25471e-05
TTDN1 [NCBI] 9.17596e-05
AEZ [NCBI] 9.0638e-05
HLXB9 [NCBI] 8.82304e-05
ESCO2 [NCBI] 8.82304e-05
hyperglycerolemia [NCBI] 8.70576e-05
AMCN [NCBI] 8.38214e-05
corpus callosum, agenesis of [NCBI] 8.26067e-05
martsolf syndrome [NCBI] 8.26067e-05
bartter syndrome, type 3 [NCBI] 8.06951e-05
MSS [NCBI] 8.06951e-05
SKI [NCBI] 8.00946e-05
growth deficiency and mental retardation with facial dysmorphism [NCBI] 7.95109e-05
gms syndrome [NCBI] 7.95109e-05
brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia [NCBI] 7.95109e-05
mental retardation, short stature, facial anomalies, and joint dislocations [NCBI] 7.95109e-05
dwarfism, mental retardation, and eye abnormality [NCBI] 7.95109e-05
gonadal dysgenesis, hypergonadotropic, xx type, short stature, and recurrent metabolic acidosis [NCBI] 7.95109e-05
SSOS [NCBI] 7.95109e-05
finger locking, recurrent, with intrauterine growth retardation and proportionate short stature [NCBI] 7.95109e-05
pfeiffer-palm-teller syndrome [NCBI] 7.95109e-05
pierre robin sequence with facial and digital anomalies [NCBI] 7.95109e-05
multiple epiphyseal dysplasia with robin phenotype [NCBI] 7.95109e-05
cataract, aberrant oral frenula, and growth retardation [NCBI] 7.95109e-05
arthrogryposis, distal, with peculiar facies and hydronephrosis [NCBI] 7.95109e-05
cortical blindness, retardation, and postaxial polydactyly [NCBI] 7.95109e-05
hyperlysinuria with hyperammonemia [NCBI] 7.95109e-05
intrinsic factor and r binder, combined congenital deficiency of [NCBI] 7.95109e-05
anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis [NCBI] 7.95109e-05
otofacioosseous-gonadal syndrome [NCBI] 7.95109e-05
short stature syndrome, brussels type [NCBI] 7.95109e-05
megarbane syndrome [NCBI] 7.95109e-05
pituitary dwarfism with large sella turcica [NCBI] 7.95109e-05
growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [NCBI] 7.95109e-05
arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [NCBI] 7.95109e-05
renal and mullerian duct hypoplasia [NCBI] 7.95109e-05
multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism [NCBI] 7.95109e-05
growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia [NCBI] 7.95109e-05
hall-riggs mental retardation syndrome [NCBI] 7.95109e-05
osteolysis syndrome, recessive [NCBI] 7.95109e-05
vitiligo, progressive, with mental retardation and urethral duplication [NCBI] 7.95109e-05
nathalie syndrome [NCBI] 7.95109e-05
fallot complex with severe mental and growth retardation [NCBI] 7.95109e-05
STQTL9 [NCBI] 7.95109e-05
pili torti and developmental delay [NCBI] 7.95109e-05
pancreatic insufficiency, combined exocrine [NCBI] 7.95109e-05
adrenomyodystrophy [NCBI] 7.95109e-05
partington-anderson syndrome [NCBI] 7.95109e-05
russell-silver syndrome, x-linked [NCBI] 7.95109e-05
OCRL [NCBI] 7.78443e-05
ALGS1 [NCBI] 7.75636e-05
CHH [NCBI] 7.59235e-05
sc phocomelia syndrome [NCBI] 7.55821e-05
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus [NCBI] 7.55821e-05
TNF [NCBI] 7.47517e-05
GAL [NCBI] 7.38243e-05
WSS [NCBI] 7.26029e-05
FGD1 [NCBI] 7.20473e-05
congenital cataracts, facial dysmorphism, and neuropathy [NCBI] 6.9895e-05
three m syndrome [NCBI] 6.9895e-05
lymphedema, microcephaly, chorioretinopathy syndrome [NCBI] 6.87875e-05
currarino syndrome [NCBI] 6.74147e-05
COH1 [NCBI] 6.70309e-05
STAT5A [NCBI] 6.5803e-05
thrombocytopenic purpura, autoimmune [NCBI] 6.57855e-05
CFTD [NCBI] 6.10328e-05
ZW10 [NCBI] 6.07924e-05
mental retardation, x-linked, with short stature [NCBI] 6.07924e-05
MAN2C1 [NCBI] 6.07924e-05
ZWINT [NCBI] 6.07924e-05
SLC13A1 [NCBI] 6.07924e-05
RGS10 [NCBI] 6.07924e-05
PRKACA [NCBI] 6.07924e-05
IGF1R [NCBI] 6.07332e-05
mulibrey nanism [NCBI] 5.91852e-05
septooptic dysplasia [NCBI] 5.91852e-05
keratitis-ichthyosis-deafness syndrome, autosomal dominant [NCBI] 5.91852e-05
JBS [NCBI] 5.74504e-05
mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor [NCBI] 5.71587e-05
mitochondrial myopathy with lactic acidosis [NCBI] 5.71587e-05
hyaluronidase deficiency [NCBI] 5.71587e-05
hyaluronan metabolism, defect in [NCBI] 5.71587e-05
acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia [NCBI] 5.71587e-05
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies [NCBI] 5.71587e-05
bruck syndrome 2 [NCBI] 5.71587e-05
cataract-ataxia-deafness-retardation syndrome [NCBI] 5.71587e-05
microcephalic primordial dwarfism, toriello type [NCBI] 5.71587e-05
pterygium colli and mental retardation with facial and digital anomalies [NCBI] 5.71587e-05
micromelic dysplasia, congenital, with dislocation of radius [NCBI] 5.71587e-05
stratton-parker syndrome [NCBI] 5.71587e-05
puerto rican infant hypotonia syndrome [NCBI] 5.71587e-05
contractures, congenital, torticollis, and malignant hyperthermia [NCBI] 5.71587e-05
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [NCBI] 5.71587e-05
ataxia-microcephaly-cataract syndrome [NCBI] 5.71587e-05
arthrogryposis, distal, with mental retardation and characteristic facies [NCBI] 5.71587e-05
tonoki syndrome [NCBI] 5.71587e-05
arthrogryposis, distal, type 2e [NCBI] 5.71587e-05
trigonocephaly with short stature and developmental delay [NCBI] 5.71587e-05
NSX [NCBI] 5.71587e-05
creases, infra-auricular cutaneous, with tall stature and advanced bone age [NCBI] 5.71587e-05
chondrodysplasia punctata syndrome [NCBI] 5.71587e-05
growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction [NCBI] 5.71587e-05
diarrhea 1, secretory chloride, congenital [NCBI] 5.58161e-05
CJD [NCBI] 5.54567e-05
CF [NCBI] 5.49417e-05
PLOD1 [NCBI] 5.45271e-05
robinow syndrome, autosomal recessive [NCBI] 5.28092e-05
GNRH1 [NCBI] 5.24797e-05
ERCC2 [NCBI] 5.12914e-05
HSS [NCBI] 5.00984e-05
INSR [NCBI] 4.90103e-05
GEMSS [NCBI] 4.8797e-05
premature chromosome condensation with microcephaly and mental retardation [NCBI] 4.8797e-05
anauxetic dysplasia [NCBI] 4.8797e-05
acrorenal syndrome, autosomal recessive [NCBI] 4.8797e-05
hutterite cerebroosteonephrodysplasia syndrome [NCBI] 4.8797e-05
rapadilino syndrome [NCBI] 4.8797e-05
alopecia-contractures-dwarfism mental retardation syndrome [NCBI] 4.8797e-05
brachymorphism-onychodysplasia-dysphalangism syndrome [NCBI] 4.8797e-05
ichthyosis and male hypogonadism [NCBI] 4.8797e-05
neurofaciodigitorenal syndrome [NCBI] 4.8797e-05
renal tubular acidosis, proximal [NCBI] 4.8797e-05
retinopathy, pigmentary, and mental retardation [NCBI] 4.8797e-05
lowry-maclean syndrome [NCBI] 4.8797e-05
arthrogryposis and ectodermal dysplasia [NCBI] 4.8797e-05
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation [NCBI] 4.8797e-05
agonadism with multiple internal malformations [NCBI] 4.8797e-05
al-gazali syndrome [NCBI] 4.8797e-05
glycogen storage disease ixa [NCBI] 4.72928e-05
HELLS [NCBI] 4.70336e-05
GFRA2 [NCBI] 4.70336e-05
COPG2 [NCBI] 4.70336e-05
PFKP [NCBI] 4.70336e-05
AGGF1 [NCBI] 4.70336e-05
MGAT2 [NCBI] 4.70336e-05
E2F4 [NCBI] 4.70336e-05
EGFL6 [NCBI] 4.70336e-05
SHOXY [NCBI] 4.70336e-05
KPNA2 [NCBI] 4.70336e-05
MAP2K2 [NCBI] 4.70336e-05
SP4 [NCBI] 4.70336e-05
SPAG6 [NCBI] 4.70336e-05
B4GALT1 [NCBI] 4.70336e-05
ARID5B [NCBI] 4.70336e-05
CSHL1 [NCBI] 4.70336e-05
ALMS [NCBI] 4.64822e-05
dandy-walker-like malformation with atrioventricular septal defect [NCBI] 4.6078e-05
ESD [NCBI] 4.40065e-05
ATRX [NCBI] 4.35118e-05
SPG20 [NCBI] 4.34092e-05
HPE5 [NCBI] 4.34092e-05
CAMT [NCBI] 4.34092e-05
anal atresia, hypospadias, and penoscrotal inversion [NCBI] 4.34092e-05
macrocephaly, benign familial [NCBI] 4.34092e-05
PTLS [NCBI] 4.34092e-05
microcephaly with chemotactic defect and transient hypogammaglobulinemia [NCBI] 4.34092e-05
branchial arch syndrome, x-linked [NCBI] 4.34092e-05
oculopalatoskeletal syndrome [NCBI] 4.34092e-05
SEMA3E [NCBI] 4.18541e-05
WHSC2 [NCBI] 4.18541e-05
ZNF148 [NCBI] 4.18541e-05
LMO7 [NCBI] 4.18541e-05
NR2C2 [NCBI] 4.18541e-05
RBL1 [NCBI] 4.18541e-05
CNTN4 [NCBI] 4.18541e-05
CDC25B [NCBI] 4.18541e-05
UCHL3 [NCBI] 4.18541e-05
AHC [NCBI] 4.1379e-05
immunodeficiency with hyper-igm, type 3 [NCBI] 3.94337e-05
PTHS [NCBI] 3.94337e-05
hunter-mcalpine craniosynostosis syndrome [NCBI] 3.94337e-05
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly [NCBI] 3.94337e-05
subglottic bar [NCBI] 3.94337e-05
AVSD2 [NCBI] 3.94337e-05
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome [NCBI] 3.94337e-05
CCNB1 [NCBI] 3.84982e-05
CSH1 [NCBI] 3.84982e-05
SIAH1 [NCBI] 3.84982e-05
CUL4B [NCBI] 3.84982e-05
LTK [NCBI] 3.84982e-05
HYAL1 [NCBI] 3.84982e-05
INCENP [NCBI] 3.84982e-05
GFI1 [NCBI] 3.84982e-05
SHOX2 [NCBI] 3.84982e-05
NHEJ1 [NCBI] 3.84982e-05
nijmegen breakage syndrome [NCBI] 3.79245e-05
cerebellotrigeminal dermal dysplasia [NCBI] 3.62901e-05
macrocephaly/autism syndrome [NCBI] 3.62901e-05
cleft lip/palate with abnormal thumbs and microcephaly [NCBI] 3.62901e-05
clark-baraitser syndrome [NCBI] 3.62901e-05
encephalopathy, ethylmalonic [NCBI] 3.62901e-05
ramon syndrome [NCBI] 3.62901e-05
SMC [NCBI] 3.62901e-05
hypogammaglobulinemia and isolated growth hormone deficiency, x-linked [NCBI] 3.62901e-05
watson syndrome [NCBI] 3.62901e-05
native american myopathy [NCBI] 3.62901e-05
glycogen storage disease i [NCBI] 3.60358e-05
CLCN3 [NCBI] 3.60084e-05
CSF2RA [NCBI] 3.60084e-05
RCC1 [NCBI] 3.60084e-05
TTDN1 [NCBI] 3.40287e-05
F7R [NCBI] 3.40287e-05
young-simpson syndrome [NCBI] 3.36962e-05
ruvalcaba syndrome [NCBI] 3.36962e-05
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome [NCBI] 3.36962e-05
donnai-barrow syndrome [NCBI] 3.36962e-05
valproate embryopathy, susceptibility to [NCBI] 3.36962e-05
ichthyosiform erythroderma, corneal involvement, and deafness [NCBI] 3.36962e-05
monosomy 1p36 syndrome [NCBI] 3.36962e-05
NN [NCBI] 3.36962e-05
diabetes mellitus, transient neonatal, 1 [NCBI] 3.36251e-05
IHH [NCBI] 3.25594e-05
CDC25A [NCBI] 3.23861e-05
HPD [NCBI] 3.23861e-05
TKT [NCBI] 3.23861e-05
CCNA2 [NCBI] 3.23861e-05
SLC39A4 [NCBI] 3.23861e-05
TFAP2C [NCBI] 3.23861e-05
GRTH [NCBI] 3.1493e-05
frontonasal dysplasia [NCBI] 3.1493e-05
BDE [NCBI] 3.1493e-05
WARBM [NCBI] 3.1493e-05
CDC25C [NCBI] 3.09831e-05
MAP2K1 [NCBI] 3.09831e-05
PAPSS2 [NCBI] 3.09831e-05
CALCR [NCBI] 2.97592e-05
GALR1 [NCBI] 2.97592e-05
CD40 [NCBI] 2.97592e-05
SOCS2 [NCBI] 2.97592e-05
MCPH1 [NCBI] 2.97592e-05
SOX3 [NCBI] 2.97592e-05
ablepharon-macrostomia syndrome [NCBI] 2.95818e-05
bartter syndrome, infantile, with sensorineural deafness [NCBI] 2.95818e-05
OGD [NCBI] 2.95818e-05
catel-manzke syndrome [NCBI] 2.95818e-05
AIH2 [NCBI] 2.95818e-05
NYS1 [NCBI] 2.95818e-05
CDG2A [NCBI] 2.95818e-05
GHSR [NCBI] 2.86743e-05
IL23A [NCBI] 2.86743e-05
RMRP [NCBI] 2.86743e-05
BOCD [NCBI] 2.78974e-05
LISX1 [NCBI] 2.78974e-05
BDA1 [NCBI] 2.78974e-05
chondrodysplasia, grebe type [NCBI] 2.78974e-05
acyl-coa dehydrogenase, short-chain, deficiency of [NCBI] 2.78974e-05
weill-marchesani syndrome, autosomal recessive [NCBI] 2.78974e-05
CSA [NCBI] 2.71327e-05
PAX5 [NCBI] 2.68175e-05
FOXP2 [NCBI] 2.68175e-05
GHRHR [NCBI] 2.68175e-05
TSHB [NCBI] 2.68175e-05
megalencephaly-cutis marmorata telangiectatica congenita [NCBI] 2.63941e-05
noonan-like/multiple giant cell lesion syndrome [NCBI] 2.63941e-05
complement component 5 deficiency [NCBI] 2.63941e-05
pseudotrisomy 13 syndrome [NCBI] 2.63941e-05
gracile syndrome [NCBI] 2.63941e-05
DLK1 [NCBI] 2.60101e-05
RTS [NCBI] 2.56751e-05
BPES [NCBI] 2.56751e-05
TS [NCBI] 2.56457e-05
3-@beta-hydroxysteroid dehydrogenase, type ii, deficiency of [NCBI] 2.52667e-05
CYP27B1 [NCBI] 2.52667e-05
ZS [NCBI] 2.52536e-05
chromosome 22q13.3 deletion syndrome [NCBI] 2.50389e-05
NGFB [NCBI] 2.4721e-05
DBA [NCBI] 2.46801e-05
EPO [NCBI] 2.40397e-05
GK [NCBI] 2.39367e-05
CDC2 [NCBI] 2.39367e-05
LRP2 [NCBI] 2.39367e-05
farber lipogranulomatosis [NCBI] 2.39367e-05
BGN [NCBI] 2.39367e-05
ornithine transcarbamylase deficiency, hyperammonemia due to [NCBI] 2.38803e-05
multiple pterygium syndrome, lethal type [NCBI] 2.38069e-05
PBT [NCBI] 2.38069e-05
methionine adenosyltransferase deficiency [NCBI] 2.38069e-05
renal tubular acidosis, distal, with progressive nerve deafness [NCBI] 2.38069e-05
IRF6 [NCBI] 2.33369e-05
VWS [NCBI] 2.30402e-05
G6PT1 [NCBI] 2.27738e-05
tyrosine transaminase deficiency [NCBI] 2.27738e-05
HHS [NCBI] 2.26792e-05
BGLAP [NCBI] 2.26525e-05
IL6 [NCBI] 2.2373e-05
CLS [NCBI] 2.18447e-05
PROP1 [NCBI] 2.17417e-05
BDC [NCBI] 2.16409e-05
OPD1 [NCBI] 2.16409e-05
feingold syndrome [NCBI] 2.16409e-05
stuve-wiedemann syndrome [NCBI] 2.16409e-05
HPE3 [NCBI] 2.16409e-05
CRYAB [NCBI] 2.12664e-05
DHCR7 [NCBI] 2.12664e-05
PTPN11 [NCBI] 2.08148e-05
HMGA2 [NCBI] 2.08148e-05
ATR [NCBI] 2.08148e-05
TBG [NCBI] 2.08148e-05
chondrodysplasia punctata, autosomal dominant [NCBI] 2.06799e-05
COFS1 [NCBI] 2.06799e-05
marshall syndrome [NCBI] 2.06799e-05
renal tubular acidosis, distal, autosomal dominant [NCBI] 2.06799e-05
PWS [NCBI] 2.0555e-05
PANK2 [NCBI] 2.03847e-05
VDR [NCBI] 2.02787e-05
klippel-trenaunay-weber syndrome [NCBI] 2.01088e-05
NF1 [NCBI] 2.00223e-05
velocardiofacial syndrome [NCBI] 2.00076e-05
galactose epimerase deficiency [NCBI] 1.97865e-05
pearson marrow-pancreas syndrome [NCBI] 1.97865e-05
OPPG [NCBI] 1.97865e-05
PITX2 [NCBI] 1.92062e-05
hyperlipoproteinemia, type i [NCBI] 1.89529e-05
anemia, dyserythropoietic congenital, type i [NCBI] 1.89529e-05
pycnodysostosis [NCBI] 1.89529e-05
FMD [NCBI] 1.89529e-05
sacral defect with anterior meningocele [NCBI] 1.89529e-05
NBS1 [NCBI] 1.84994e-05
BTC [NCBI] 1.84994e-05
MCPH1 [NCBI] 1.81724e-05
CDPX1 [NCBI] 1.81724e-05
PPOX [NCBI] 1.81662e-05
CAV3 [NCBI] 1.81662e-05
HGPS [NCBI] 1.80265e-05
IGF2 [NCBI] 1.78453e-05
LPI [NCBI] 1.77174e-05
ABCA1 [NCBI] 1.75359e-05
UMS [NCBI] 1.74393e-05
PHA2 [NCBI] 1.74393e-05
alexander disease [NCBI] 1.74393e-05
GNRHR [NCBI] 1.72371e-05
PCNA [NCBI] 1.7078e-05
cutis laxa, autosomal recessive, type i [NCBI] 1.67489e-05
RHS [NCBI] 1.67489e-05
XPA [NCBI] 1.6669e-05
GLB1 [NCBI] 1.6669e-05
GSR [NCBI] 1.6669e-05
PCD [NCBI] 1.65649e-05
SPCH1 [NCBI] 1.60972e-05
FLNA [NCBI] 1.58822e-05
fructose intolerance, hereditary [NCBI] 1.56355e-05
COMP [NCBI] 1.55005e-05
MNS [NCBI] 1.54806e-05
PPAC [NCBI] 1.54806e-05
CSID [NCBI] 1.54806e-05
CCD [NCBI] 1.54357e-05
BRAF [NCBI] 1.53958e-05
JBS [NCBI] 1.48961e-05
neuraminidase deficiency with beta-galactosidase deficiency [NCBI] 1.45009e-05
lipomatosis, multiple [NCBI] 1.44953e-05
MAFD6 [NCBI] 1.44953e-05
THRB [NCBI] 1.3505e-05
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant [NCBI] 1.33098e-05
POF1 [NCBI] 1.33098e-05
polycystic kidneys [NCBI] 1.3103e-05
EGF [NCBI] 1.29287e-05
RIEG1 [NCBI] 1.28298e-05
phenylketonuria [NCBI] 1.28057e-05
AFP [NCBI] 1.27485e-05
CD [NCBI] 1.27057e-05
mucopolysaccharidosis type iva [NCBI] 1.26198e-05
thrombocytopenia-absent radius syndrome [NCBI] 1.2607e-05
FGFR3 [NCBI] 1.25415e-05
OKS [NCBI] 1.19327e-05
AHO [NCBI] 1.1915e-05
ELN [NCBI] 1.15292e-05
CHNG2 [NCBI] 1.15127e-05
LCA1 [NCBI] 1.15127e-05
PRL [NCBI] 1.13711e-05
SMS [NCBI] 1.07298e-05
CRH [NCBI] 1.03875e-05
cortisol 11-beta-ketoreductase deficiency [NCBI] 1.03265e-05
PFIC1 [NCBI] 9.99701e-06
hyperoxaluria, primary, type i [NCBI] 9.99701e-06
HCH [NCBI] 9.99701e-06
MDLS [NCBI] 9.65431e-06
mitochondrial complex iv deficiency [NCBI] 9.65431e-06
COL2A1 [NCBI] 9.40411e-06
MVP [NCBI] 9.32835e-06
mannosidosis, alpha b, lysosomal [NCBI] 9.32449e-06
AT [NCBI] 9.03085e-06
GNAS [NCBI] 8.88451e-06
PPARG [NCBI] 8.68742e-06
ACHE [NCBI] 8.02376e-06
TH [NCBI] 7.9374e-06
holoprosencephaly [NCBI] 7.91781e-06
LMNA [NCBI] 7.69873e-06
JAK2 [NCBI] 7.61604e-06
SHH [NCBI] 7.50282e-06
SCS [NCBI] 7.07606e-06
CDK2 [NCBI] 6.91839e-06
SJS1 [NCBI] 6.83634e-06
LPL [NCBI] 6.7528e-06
FBN1 [NCBI] 6.63282e-06
CDG1A [NCBI] 6.16287e-06
BDNF [NCBI] 5.99052e-06
ALB [NCBI] 5.93349e-06
hypophosphatemic rickets, x-linked dominant [NCBI] 5.74888e-06
adrenoleukodystrophy, autosomal neonatal form [NCBI] 5.36035e-06
PDS [NCBI] 4.99537e-06
mucolipidosis ii [NCBI] 4.82117e-06
RTT [NCBI] 4.81199e-06
AMH [NCBI] 4.52853e-06
PTH [NCBI] 4.25146e-06
HHF2 [NCBI] 4.17524e-06
BRRS [NCBI] 4.17524e-06
MHS1 [NCBI] 4.02561e-06
MFS [NCBI] 3.98134e-06
RSTS [NCBI] 3.88042e-06
PTHLH [NCBI] 2.82342e-06
NPPA [NCBI] 2.74215e-06
BLM [NCBI] 2.2437e-06
IBD1 [NCBI] 2.15098e-06
pena-shokeir syndrome, type i [NCBI] 2.14784e-06
ADA [NCBI] 2.10562e-06
gaucher disease, type i [NCBI] 1.97379e-06
AOS [NCBI] 1.57399e-06
HBB [NCBI] 1.36666e-06
SHBG [NCBI] 1.24233e-06
FA [NCBI] 9.47394e-07
DMD [NCBI] 9.4416e-07
DGS [NCBI] 8.14609e-07
HD [NCBI] 7.80486e-07
AS [NCBI] 7.14518e-07
APS1 [NCBI] 5.07112e-07
CFTR [NCBI] 4.31733e-07
alport syndrome, autosomal dominant [NCBI] 4.12098e-07
fragile x mental retardation syndrome [NCBI] 3.56637e-07
TTR [NCBI] 3.42481e-07
NPY [NCBI] 3.09699e-07
APOB [NCBI] 2.67842e-07
KSS [NCBI] 1.36148e-07
GDNF [NCBI] 9.40313e-08
krabbe disease [NCBI] 6.70605e-08
AVP [NCBI] 2.2306e-08
BBS [NCBI] 2.18102e-08
HSCR1 [NCBI] 2.06876e-09



Database Center for Life Science