Source: CLINVAR

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: 1535
Gene Symbol: CYBA
CYBA
cytochrome b-245 alpha chain 0.520 0.769 8.9E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.400 None 1.000 0 1 2017 2017
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 1.000 3 2 2012 2014
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 388650
Gene Symbol: DIPK1A
DIPK1A
divergent protein kinase domain 1A 0.743 0.423 0.58
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 1
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2
phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 1
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 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 1
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 1
Entrez Id: 6125
Gene Symbol: RPL5
RPL5
ribosomal protein L5 0.617 0.615 1.00
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 1
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 7
Entrez Id: 84061
Gene Symbol: MAGT1
MAGT1
magnesium transporter 1 0.548 0.769 0.96
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 1
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
NPC intracellular cholesterol transporter 2 0.612 0.769 1.8E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
H3.3 histone A 0.559 0.692 0.12
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 1
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 1
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
glypican 3 0.466 0.808 1.00
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 1
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 2
Entrez Id: 2592
Gene Symbol: GALT
GALT
galactose-1-phosphate uridylyltransferase 0.612 0.654 2.1E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 1
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 2
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
unc-13 homolog D 0.659 0.500 1.1E-18
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 2
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 1
Entrez Id: 85444
Gene Symbol: LRRCC1
LRRCC1
leucine rich repeat and coiled-coil centrosomal protein 1 0.722 0.577 7.2E-21
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 1