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: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.400 None 1.000 0 0 1999 2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
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: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 1.000 0 0 2018 2018
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
acyl-CoA oxidase 1 0.610 0.731 6.2E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
acyl-CoA synthetase long chain family member 4 0.561 0.769 0.98
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
adenylate cyclase 5 0.617 0.577 1.00
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 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: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 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: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 196
Gene Symbol: AHR
AHR
aryl hydrocarbon receptor 0.410 0.923 1.00
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
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: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11
ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
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: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3
ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 79796
Gene Symbol: ALG9
ALG9
ALG9 alpha-1,2-mannosyltransferase 0.644 0.654 6.4E-04
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
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: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 275
Gene Symbol: AMT
AMT
aminomethyltransferase 0.674 0.692 2.7E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
ankyrin repeat and LEM domain containing 2 0.691 0.500 1.0E-10
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 55129
Gene Symbol: ANO10
ANO10
anoctamin 10 0.663 0.500 1.0E-14
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0