Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		1.000 Biomarker HPO

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		1.000 Biomarker HPO

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

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0028754
Disease: Obesity
Obesity 		1.000 Biomarker HPO

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 Biomarker HPO

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 Biomarker HPO

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 Biomarker HPO

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

Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		1.000 Biomarker HPO

Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		1.000 CausalMutation CLINVAR

Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		1.000 GeneticVariation CLINVAR

Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 CausalMutation CLINVAR

Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 Biomarker HPO

Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		1.000 Biomarker HPO