Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		1.000 GeneticVariation CLINVAR

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		1.000 CausalMutation CLINVAR

Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		1.000 GeneticVariation CLINVAR

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 CausalMutation CLINVAR

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		1.000 CausalMutation CLINVAR

Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		1.000 CausalMutation CLINVAR

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		1.000 CausalMutation CLINVAR

Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		1.000 CausalMutation CLINVAR

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation CLINVAR

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		1.000 CausalMutation CLINVAR

Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		1.000 GeneticVariation CLINVAR

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 GeneticVariation CLINVAR

Entrez Id: 4010
Gene Symbol: LMX1B
LMX1B
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome 		1.000 GeneticVariation CLINVAR

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		1.000 GeneticVariation CLINVAR

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		1.000 CausalMutation CLINVAR

Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		1.000 CausalMutation CLINVAR

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		1.000 CausalMutation CLINVAR

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		1.000 GeneticVariation CLINVAR

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		1.000 CausalMutation CLINVAR

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		1.000 GeneticVariation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 GeneticVariation CLINVAR

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		1.000 GeneticVariation CLINVAR

Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 CausalMutation CLINVAR

Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation CLINVAR

Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		1.000 CausalMutation CLINVAR