Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 SomaticCausalMutation ORPHANET

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
1.000 FusionGene ORPHANET

Entrez Id: 6452
Gene Symbol: SH3BP2
SH3BP2
CUI: C0008029
Disease: Cherubism
Cherubism
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
1.000 ChromosomalRearrangement ORPHANET

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 5837
Gene Symbol: PYGM
PYGM
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 SomaticCausalMutation ORPHANET

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma
1.000 FusionGene ORPHANET

Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
1.000 ChromosomalRearrangement ORPHANET

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 846
Gene Symbol: CASR
CASR
Hypocalciuric hypercalcemia, familial, type 1
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary liability to pressure palsies
1.000 GermlineCausalMutation ORPHANET