Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR

Entrez Id: 8726
Gene Symbol: EED
EED
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR

Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR

Entrez Id: 9158
Gene Symbol: FIBP
FIBP
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Familial Mediterranean fever. A survey of 470 cases and review of the literature. 5340644

1967

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861

1971

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. 6965523

1980

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Phenotypic variation in LADD syndrome. 4078868

1985

Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Remission of progressive renal failure in familial Mediterranean fever during colchicine treatment. 4015155

1985

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967

1986

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967

1986

Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease. 3754980

1986

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. 3067577

1988

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Predictive motifs derived from cytosine methyltransferases. 2717398

1989

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. 2738900

1989

Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Birth of the D-E-A-D box. 2563148

1989

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. 1714544

1991

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure. 1999432

1991

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. 1423634

1992

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992

Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation CLINVAR A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. 1361034

1992

Entrez Id: 57679
Gene Symbol: ALS2
ALS2
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. 1606479

1992