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: 84529
Gene Symbol: C15orf41
C15orf41
chromosome 15 open reading frame 41 0.805 0.115 3.3E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 11222
Gene Symbol: MRPL3
MRPL3
mitochondrial ribosomal protein L3 0.792 0.192 1.3E-12
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
pyridoxal phosphate binding protein 0.736 0.231 4.0E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3
bolA family member 3 0.760 0.231 0.15
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
erythrocyte membrane protein band 4.2 0.729 0.269 9.9E-09
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 338328
Gene Symbol: GPIHBP1
GPIHBP1
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 0.686 0.269 0.14
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
phosphorylase kinase regulatory subunit beta 0.769 0.269 1.6E-21
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: 65992
Gene Symbol: DDRGK1
DDRGK1
DDRGK domain containing 1 0.736 0.269 3.1E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 11231
Gene Symbol: SEC63
SEC63
SEC63 homolog, protein translocation regulator 0.736 0.308 2.1E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 11311
Gene Symbol: VPS45
VPS45
vacuolar protein sorting 45 homolog 0.716 0.308 5.1E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11
NADH:ubiquinone oxidoreductase subunit A11 0.705 0.308 1.8E-02
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
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: 7381
Gene Symbol: UQCRB
UQCRB
ubiquinol-cytochrome c reductase binding protein 0.736 0.308 1.6E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 84317
Gene Symbol: CCDC115
CCDC115
coiled-coil domain containing 115 0.743 0.308 1.2E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 10166
Gene Symbol: SLC25A15
SLC25A15
solute carrier family 25 member 15 0.711 0.346 3.7E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 112812
Gene Symbol: FDX2
FDX2
ferredoxin 2 0.780 0.346 1.7E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
metabolism of cobalamin associated A 0.743 0.346 9.4E-13
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 374354
Gene Symbol: NHLRC2
NHLRC2
NHL repeat containing 2 0.729 0.346 8.3E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 4700
Gene Symbol: NDUFA6
NDUFA6
NADH:ubiquinone oxidoreductase subunit A6 0.711 0.346 1.3E-04
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 549
Gene Symbol: AUH
AUH
AU RNA binding methylglutaconyl-CoA hydratase 0.686 0.346 8.0E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 6005
Gene Symbol: RHAG
RHAG
Rh associated glycoprotein 0.716 0.346 1.0E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 8676
Gene Symbol: STX11
STX11
syntaxin 11 0.729 0.346 4.7E-04
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 93183
Gene Symbol: PIGM
PIGM
phosphatidylinositol glycan anchor biosynthesis class M 0.695 0.346 5.4E-05
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0