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: 11284
Gene Symbol: PNKP
PNKP 		polynucleotide kinase 3'-phosphatase 0.553 0.692 3.7E-14
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B 		HNF1 homeobox B 0.473 0.808 1.00
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22 		solute carrier family 25 member 22 0.595 0.577 6.6E-03
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		tripartite motif containing 8 0.588 0.731 0.99
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 8626
Gene Symbol: TP63
TP63 		tumor protein p63 0.362 0.769 1.00
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		plectin 0.523 0.808 8.3E-12
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 51227
Gene Symbol: PIGP
PIGP 		phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 150094
Gene Symbol: SIK1
SIK1 		salt inducible kinase 1 0.544 0.731 0.94
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX 		aristaless related homeobox 0.516 0.654 0.91
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 3655
Gene Symbol: ITGA6
ITGA6 		integrin subunit alpha 6 0.539 0.769 1.9E-07
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4 		integrin subunit beta 4 0.525 0.731 9.5E-19
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 3975
Gene Symbol: LHX1
LHX1 		LIM homeobox 1 0.691 0.385 2.9E-02
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 4761
Gene Symbol: NEUROD2
NEUROD2 		neuronal differentiation 2 0.619 0.538 0.94
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease 0.100 None 0 0