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: 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: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 9785
Gene Symbol: DHX38
DHX38 		DEAH-box helicase 38 0.711 0.346 2.1E-12
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 3419
Gene Symbol: IDH3A
IDH3A 		isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha 0.705 0.385 0.16
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 7259
Gene Symbol: TSPYL1
TSPYL1 		TSPY like 1 0.705 0.500 5.6E-07
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18 		Rho/Rac guanine nucleotide exchange factor 18 0.700 0.308 1.8E-03
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 3420
Gene Symbol: IDH3B
IDH3B 		isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta 0.700 0.462 3.0E-11
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 768206
Gene Symbol: PRCD
PRCD 		photoreceptor disc component 0.700 0.269 1.6E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1 		cyclic nucleotide gated channel subunit alpha 1 0.695 0.269 2.8E-11
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 23020
Gene Symbol: SNRNP200
SNRNP200 		small nuclear ribonucleoprotein U5 subunit 200 0.695 0.500 1.00
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
Entrez Id: 5148
Gene Symbol: PDE6G
PDE6G 		phosphodiesterase 6G 0.695 0.308 1.3E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 57709
Gene Symbol: SLC7A14
SLC7A14 		solute carrier family 7 member 14 0.695 0.308 2.2E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 9129
Gene Symbol: PRPF3
PRPF3 		pre-mRNA processing factor 3 0.695 0.385 1.00
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1 		BBSome interacting protein 1 0.695 0.423 4.2E-03
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 130557
Gene Symbol: ZNF513
ZNF513 		zinc finger protein 513 0.691 0.346 0.82
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: 5995
Gene Symbol: RGR
RGR 		retinal G protein coupled receptor 0.691 0.385 2.4E-10
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A 		FAM161 centrosomal protein A 0.691 0.308 5.1E-13
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 23432
Gene Symbol: GPR161
GPR161 		G protein-coupled receptor 161 0.686 0.462 3.5E-04
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 25794
Gene Symbol: FSCN2
FSCN2 		fascin actin-bundling protein 2, retinal 0.682 0.346 3.8E-13
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 2979
Gene Symbol: GUCA1B
GUCA1B 		guanylate cyclase activator 1B 0.682 0.423 2.1E-04
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 55212
Gene Symbol: BBS7
BBS7 		Bardet-Biedl syndrome 7 0.682 0.462 7.1E-09
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: 79797
Gene Symbol: ZNF408
ZNF408 		zinc finger protein 408 0.678 0.269 1.2E-06
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0