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: 22978
Gene Symbol: NT5C2
NT5C2
5'-nucleotidase, cytosolic II 0.537 0.846 2.1E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 471
Gene Symbol: ATIC
ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.576 0.731 3.0E-19
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 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: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.400 strong 1.000 0 0 2014 2018
Entrez Id: 50
Gene Symbol: ACO2
ACO2
aconitase 2 0.619 0.654 0.21
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.120 None 1.000 0 0 2014 2015
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
acyl-CoA oxidase 1 0.610 0.731 6.2E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 53616
Gene Symbol: ADAM22
ADAM22
ADAM metallopeptidase domain 22 0.678 0.615 0.25
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2
adaptor related protein complex 3 subunit beta 2 0.691 0.346 0.77
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP
ADP ribosylation factor like GTPase 2 binding protein 0.647 0.654 3.3E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 403
Gene Symbol: ARL3
ARL3
ADP ribosylation factor like GTPase 3 0.603 0.615 1.4E-03
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
ADP ribosylation factor like GTPase 6 0.636 0.462 1.0E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 189
Gene Symbol: AGXT
AGXT
alanine--glyoxylate and serine--pyruvate aminotransferase 0.593 0.731 1.2E-07
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1
alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 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: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
alpha-N-acetylgalactosaminidase 0.647 0.538 1.8E-11
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 84168
Gene Symbol: ANTXR1
ANTXR1
ANTXR cell adhesion molecule 1 0.584 0.731 0.99
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 473
Gene Symbol: RERE
RERE
arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 64801
Gene Symbol: ARV1
ARV1
ARV1 homolog, fatty acid homeostasis modulator 0.691 0.423 3.6E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0