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: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
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: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
solute carrier family 39 member 4 0.628 0.692 3.1E-04
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 55651
Gene Symbol: NHP2
NHP2
NHP2 ribonucleoprotein 0.623 0.654 5.0E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 0.716 0.385 1.5E-16
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 5580
Gene Symbol: PRKCD
PRKCD
protein kinase C delta 0.480 0.846 1.00
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165
transmembrane protein 165 0.711 0.385 0.28
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B
transmembrane protein 126B 0.716 0.385 1.9E-04
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 5589
Gene Symbol: PRKCSH
PRKCSH
protein kinase C substrate 80K-H 0.674 0.538 1.0E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
solute carrier family 30 member 10 0.578 0.654 0.98
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
perforin 1 0.540 0.692 5.5E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 55505
Gene Symbol: NOP10
NOP10
NOP10 ribonucleoprotein 0.631 0.654 0.77
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
DNA polymerase delta 1, catalytic subunit 0.507 0.769 2.4E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11
NADH:ubiquinone oxidoreductase subunit B11 0.566 0.692 0.80
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 54790
Gene Symbol: TET2
TET2
tet methylcytosine dioxygenase 2 0.458 0.808 4.3E-54
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: 54968
Gene Symbol: TMEM70
TMEM70
transmembrane protein 70 0.636 0.654 2.9E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 55109
Gene Symbol: AGGF1
AGGF1
angiogenic factor with G-patch and FHA domains 1 0.650 0.462 2.7E-05
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0