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: 5698
Gene Symbol: PSMB9
PSMB9
proteasome 20S subunit beta 9 0.514 0.808 2.7E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI
hydatidiform mole associated and imprinted 0.670 0.538
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2
patatin like phospholipase domain containing 2 0.511 0.846 4.1E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1
SCY1 like pseudokinase 1 0.582 0.769 2.5E-08
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 57462
Gene Symbol: MYORG
MYORG
myogenesis regulating glycosidase (putative) 0.805 0.269 1.1E-11
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 4715
Gene Symbol: NDUFB9
NDUFB9
NADH:ubiquinone oxidoreductase subunit B9 0.700 0.385 1.6E-04
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 5091
Gene Symbol: PC
PC
pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
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: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
propionyl-CoA carboxylase subunit beta 0.695 0.577 1.5E-08
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
acyl-CoA oxidase 1 0.610 0.731 6.2E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 5105
Gene Symbol: PCK1
PCK1
phosphoenolpyruvate carboxykinase 1 0.608 0.538 8.7E-15
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 51081
Gene Symbol: MRPS7
MRPS7
mitochondrial ribosomal protein S7 0.722 0.500 1.3E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5
abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1
NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
dynactin subunit 4 0.472 0.846 0.73
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 51204
Gene Symbol: TACO1
TACO1
translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5
glutaredoxin 5 0.659 0.538 0.75
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 5073
Gene Symbol: PARN
PARN
poly(A)-specific ribonuclease 0.575 0.769 3.7E-04
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0