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: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 55857
Gene Symbol: KIZ
KIZ 		kizuna centrosomal protein 0.722 0.308
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2 		steroid 5 alpha-reductase 2 0.564 0.615
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 346007
Gene Symbol: EYS
EYS 		eyes shut homolog 0.631 0.538 3.7E-41
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1 		cyclic nucleotide gated channel subunit beta 1 0.628 0.538 1.8E-37
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 26160
Gene Symbol: IFT172
IFT172 		intraflagellar transport 172 0.582 0.654 3.3E-33
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		phosphodiesterase 6A 0.691 0.269 6.6E-25
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		ceramide kinase like 0.678 0.308 9.8E-25
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 9742
Gene Symbol: IFT140
IFT140 		intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		prominin 1 0.410 0.846 1.9E-22
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1 		cadherin related family member 1 0.670 0.308 2.8E-21
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 57560
Gene Symbol: IFT80
IFT80 		intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		cholinergic receptor nicotinic gamma subunit 0.573 0.692 3.3E-19
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 4117
Gene Symbol: MAK
MAK 		male germ cell associated kinase 0.695 0.346 8.6E-19
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0