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: 355
Gene Symbol: FAS
FAS 		Fas cell surface death receptor 0.372 0.923 0.81
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.400 None 1.000 0 2 2011 2011
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1 		alpha kinase 1 0.644 0.615 1.0E-19
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6787
Gene Symbol: NEK4
NEK4 		NIMA related kinase 4 0.751 0.192 8.7E-27
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 1
Entrez Id: 6710
Gene Symbol: SPTB
SPTB 		spectrin beta, erythrocytic 0.650 0.462 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 1
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 1
Entrez Id: 51816
Gene Symbol: ADA2
ADA2 		adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 1
Entrez Id: 51119
Gene Symbol: SBDS
SBDS 		SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 2
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		Janus kinase 2 0.385 0.885 0.65
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 1
Entrez Id: 3040
Gene Symbol: HBA2
HBA2 		hemoglobin subunit alpha 2 0.512 0.808 3.1E-03
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 1
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 5
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 1
Entrez Id: 1736
Gene Symbol: DKC1
DKC1 		dyskerin pseudouridine synthase 1 0.547 0.769 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 1