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: 54832
Gene Symbol: VPS13C
VPS13C
vacuolar protein sorting 13 homolog C 0.653 0.346 7.6E-49
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.420 None 0.500 0 0 2012 2015
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
leucine rich repeat kinase 2 0.510 0.808 2.6E-30
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.120 None 1.000 0 0 2007 2016
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.110 strong 1.000 0 0 2011 2011
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12
serine protease 12 0.682 0.308 8.4E-29
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3
acyl-CoA synthetase family member 3 0.743 0.308 2.3E-26
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
RNA polymerase III subunit B 0.628 0.654 1.7E-23
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
methylmalonyl-CoA mutase 0.534 0.731 1.7E-22
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
vacuolar protein sorting 13 homolog A 0.650 0.577 9.3E-22
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 strong 1.000 0 0 2018 2018
Entrez Id: 84340
Gene Symbol: GFM2
GFM2
G elongation factor mitochondrial 2 0.736 0.269 1.5E-18
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
adaptor related protein complex 4 subunit mu 1 0.638 0.500 4.5E-17
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
FAD dependent oxidoreductase domain containing 1 0.633 0.462 2.0E-16
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 0 0
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12
trafficking protein particle complex 12 0.751 0.385 5.4E-16
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
CWF19 like cell cycle control factor 1 0.691 0.346 1.4E-15
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 5095
Gene Symbol: PCCA
PCCA
propionyl-CoA carboxylase subunit alpha 0.682 0.538 3.1E-15
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 10765
Gene Symbol: KDM5B
KDM5B
lysine demethylase 5B 0.532 0.731 7.9E-15
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 83696
Gene Symbol: TRAPPC9
TRAPPC9
trafficking protein particle complex 9 0.603 0.577 2.3E-14
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.553 0.692 3.7E-14
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
extracellular matrix protein 1 0.576 0.731 4.7E-14
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 1355
Gene Symbol: COX15
COX15
cytochrome c oxidase assembly homolog COX15 0.638 0.538 1.1E-13
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0