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: 6314
Gene Symbol: ATXN7
ATXN7 		ataxin 7 0.581 0.654 0.96
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		atlastin GTPase 1 0.593 0.654 0.98
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1 		ATP/GTP binding protein 1 0.650 0.538 0.42
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2 		ATPase H+ transporting accessory protein 2 0.525 0.769 0.87
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		ATPase H+ transporting V0 subunit a2 0.570 0.692 2.6E-11
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A 		ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1 		ATPase H+ transporting V1 subunit E1 0.610 0.769 0.53
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 549
Gene Symbol: AUH
AUH 		AU RNA binding methylglutaconyl-CoA hydratase 0.686 0.346 8.0E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 7809
Gene Symbol: BSND
BSND 		barttin CLCNK type accessory subunit beta 0.603 0.692 1.1E-10
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		BCL6 corepressor 0.471 0.808 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2 		beta-1,3-N-acetylgalactosaminyltransferase 2 0.578 0.577 2.8E-07
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 23299
Gene Symbol: BICD2
BICD2 		BICD cargo adaptor 2 0.615 0.731 0.98
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 274
Gene Symbol: BIN1
BIN1 		bridging integrator 1 0.550 0.692 0.78
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 1487
Gene Symbol: CTBP1
CTBP1 		C-terminal binding protein 1 0.559 0.692 0.98
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 124583
Gene Symbol: CANT1
CANT1 		calcium activated nucleotidase 1 0.619 0.731 2.5E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		calcium and integrin binding family member 2 0.545 0.808 1.4E-03
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 6249
Gene Symbol: CLIP1
CLIP1 		CAP-Gly domain containing linker protein 1 0.617 0.654 0.68
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 113189
Gene Symbol: CHST14
CHST14 		carbohydrate sulfotransferase 14 0.638 0.654 0.45
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 1384
Gene Symbol: CRAT
CRAT 		carnitine O-acetyltransferase 0.656 0.577 9.5E-12
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 8738
Gene Symbol: CRADD
CRADD 		CASP2 and RIPK1 domain containing adaptor with death domain 0.619 0.500 0.88
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0