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: 10555
Gene Symbol: AGPAT2
AGPAT2 		1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 3248
Gene Symbol: HPGD
HPGD 		15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2 		3-hydroxy-3-methylglutaryl-CoA synthase 2 0.666 0.577 4.3E-14
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.300 None 1.000 0 0 2000 2000
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: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 33
Gene Symbol: ACADL
ACADL 		acyl-CoA dehydrogenase long chain 0.736 0.462 1.7E-12
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
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: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.400 None 1.000 0 0 2008 2008
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1 		adaptor related protein complex 3 subunit delta 1 0.678 0.385 0.99
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 51816
Gene Symbol: ADA2
ADA2 		adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 208
Gene Symbol: AKT2
AKT2 		AKT serine/threonine kinase 2 0.474 0.769 0.64
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: 6718
Gene Symbol: AKR1D1
AKR1D1 		aldo-keto reductase family 1 member D1 0.711 0.385 1.7E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		aldolase, fructose-bisphosphate B 0.623 0.538 7.9E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 85365
Gene Symbol: ALG2
ALG2 		ALG2 alpha-1,3/1,6-mannosyltransferase 0.670 0.423 8.0E-05
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 79053
Gene Symbol: ALG8
ALG8 		ALG8 alpha-1,3-glucosyltransferase 0.659 0.577 1.2E-08
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 79796
Gene Symbol: ALG9
ALG9 		ALG9 alpha-1,2-mannosyltransferase 0.644 0.654 6.4E-04
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0