Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
IQ motif and Sec7 domain 2 0.619 0.517 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Snf2 related CREBBP activator protein 0.696 0.517 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10815
Gene Symbol: CPLX1
CPLX1
complexin 1 0.600 0.517 0.82
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
serologically defined colon cancer antigen 8 0.602 0.621 1.3E-11
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
gap junction protein beta 6 0.559 0.655 1.1E-07
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10801
Gene Symbol: SEPT9
SEPT9
septin 9 0.588 0.655 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
kinesin family member 1C 0.752 0.414 0.75
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
retinoic acid induced 1 0.558 0.621 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10733
Gene Symbol: PLK4
PLK4
polo like kinase 4 0.594 0.517 5.9E-06
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10730
Gene Symbol: YME1L1
YME1L1
YME1 like 1 ATPase 0.696 0.517 2.9E-02
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
patatin like phospholipase domain containing 6 0.550 0.655 5.9E-13
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 11020
Gene Symbol: IFT27
IFT27
intraflagellar transport 27 0.713 0.379 2.7E-06
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 11113
Gene Symbol: CIT
CIT
citron rho-interacting serine/threonine kinase 0.642 0.483 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
centrosomal protein 152 0.667 0.379 2.8E-27
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
tripartite motif containing 32 0.609 0.586 2.0E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 22931
Gene Symbol: RAB18
RAB18
RAB18, member RAS oncogene family 0.586 0.552 0.88
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1 0.570 0.655 7.8E-08
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
centrosomal protein 164 0.773 0.345 1.6E-26
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
beta-1,4-galactosyltransferase 7 0.636 0.586 8.6E-05
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
adaptor related protein complex 4 subunit sigma 1 0.762 0.241 2.3E-06
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
RNA polymerase III subunit A 0.676 0.448 1.6E-23
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
delta like canonical Notch ligand 3 0.609 0.414 5.7E-05
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10682
Gene Symbol: EBP
EBP
EBP, cholestenol delta-isomerase 0.512 0.793 0.94
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
splicing factor 3b subunit 4 0.607 0.552 0.99
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 0