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: 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: 36
Gene Symbol: ACADSB
ACADSB 		acyl-CoA dehydrogenase short/branched chain 0.691 0.500 2.7E-11
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 51816
Gene Symbol: ADA2
ADA2 		adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2 		ADAM metallopeptidase with thrombospondin type 1 motif 2 0.579 0.808 0.97
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 55750
Gene Symbol: AGK
AGK 		acylglycerol kinase 0.650 0.654 6.0E-09
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 375790
Gene Symbol: AGRN
AGRN 		agrin 0.626 0.538 5.5E-07
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: 191
Gene Symbol: AHCY
AHCY 		adenosylhomocysteinase 0.582 0.692 3.6E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1 		aminoacyl tRNA synthetase complex interacting multifunctional protein 1 0.566 0.769 3.0E-07
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1 		aldehyde dehydrogenase 5 family member A1 0.619 0.462 3.1E-07
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 199857
Gene Symbol: ALG14
ALG14 		ALG14 UDP-N-acetylglucosaminyltransferase subunit 0.722 0.308 9.4E-04
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 85365
Gene Symbol: ALG2
ALG2 		ALG2 alpha-1,3/1,6-mannosyltransferase 0.670 0.423 8.0E-05
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 372
Gene Symbol: ARCN1
ARCN1 		archain 1 0.705 0.462 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 9181
Gene Symbol: ARHGEF2
ARHGEF2 		Rho/Rac guanine nucleotide exchange factor 2 0.502 0.769 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
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: 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