Source: BEFREE

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: 760
Gene Symbol: CA2
CA2 		carbonic anhydrase 2 0.506 0.808 1.7E-06
CUI: C0456042
Disease: Transient neonatal renal tubular acidosis
Transient neonatal renal tubular acidosis 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 5715
Gene Symbol: PSMD9
PSMD9 		proteasome 26S subunit, non-ATPase 9 0.435 0.846 4.9E-06
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 760
Gene Symbol: CA2
CA2 		carbonic anhydrase 2 0.506 0.808 1.7E-06
CUI: C0155550
Disease: Neural hearing loss
Neural hearing loss 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 3429
Gene Symbol: IFI27
IFI27 		interferon alpha inducible protein 27 0.437 0.769 1.1E-02
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 3429
Gene Symbol: IFI27
IFI27 		interferon alpha inducible protein 27 0.437 0.769 1.1E-02
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 3429
Gene Symbol: IFI27
IFI27 		interferon alpha inducible protein 27 0.437 0.769 1.1E-02
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 201161
Gene Symbol: CENPV
CENPV 		centromere protein V 0.711 0.577 0.33
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 5715
Gene Symbol: PSMD9
PSMD9 		proteasome 26S subunit, non-ATPase 9 0.435 0.846 4.9E-06
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 1130
Gene Symbol: LYST
LYST 		lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0003578
Disease: Apnea
Apnea 		phenotype 0.010 None 1.000 1 0 1975 1975
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG 		CD40 ligand 0.414 0.846 0.72
CUI: C0024303
Disease: Small Cell Lymphoma
Small Cell Lymphoma 		disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 2885
Gene Symbol: GRB2
GRB2 		growth factor receptor bound protein 2 0.546 0.769 0.94
CUI: C3241958
Disease: Myocardial Disorder
Myocardial Disorder 		group 0.010 None 1.000 1 0 1975 1975
Entrez Id: 3156
Gene Symbol: HMGCR
HMGCR 		3-hydroxy-3-methylglutaryl-CoA reductase 0.529 0.692 1.00
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 973
Gene Symbol: CD79A
CD79A 		CD79a molecule 0.536 0.731 0.69
CUI: C0024303
Disease: Small Cell Lymphoma
Small Cell Lymphoma 		disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 973
Gene Symbol: CD79A
CD79A 		CD79a molecule 0.536 0.731 0.69
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0003578
Disease: Apnea
Apnea 		phenotype 0.010 None 1.000 1 0 1975 1975
Entrez Id: 2885
Gene Symbol: GRB2
GRB2 		growth factor receptor bound protein 2 0.546 0.769 0.94
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.010 None 1.000 1 0 1975 1975
Entrez Id: 718
Gene Symbol: C3
C3 		complement C3 0.445 0.885 0.90
CUI: C0027121
Disease: Myositis
Myositis 		disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 4860
Gene Symbol: PNP
PNP 		purine nucleoside phosphorylase 0.527 0.885 7.0E-06
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1 		serpin family A member 1 0.410 0.923 6.8E-08
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease 0.010 None < 0.001 1 0 1975 1975
Entrez Id: 102723407
Gene Symbol: LOC102723407
LOC102723407 		immunoglobulin heavy variable 4-38-2-like 0.514 0.769
CUI: C0024303
Disease: Small Cell Lymphoma
Small Cell Lymphoma 		disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 5981
Gene Symbol: RFC1
RFC1 		replication factor C subunit 1 0.541 0.808 0.97
CUI: C0024282
Disease: Lymphocytosis
Lymphocytosis 		disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 4353
Gene Symbol: MPO
MPO 		myeloperoxidase 0.377 0.923 7.1E-15
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 174
Gene Symbol: AFP
AFP 		alpha fetoprotein 0.429 0.885 1.1E-11
CUI: C0747845
Disease: early pregnancy
early pregnancy 		phenotype 0.010 None < 0.001 1 0 1975 1975