Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041065
rs886041065
ASXL2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886039908
rs886039908
GPC3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs786204849
rs786204849
FIBP
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs587784177
rs587784177
NSD1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587784177
rs587784177
NSD1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397514698
rs397514698
GNAQ
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1565706229
rs1565706229
EED ; MIR6755
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553245943
rs1553245943
ATP1A2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 GeneticVariation CLINVAR A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. 1361034

1992
dbSNP: rs757823678
rs757823678
DNMT3A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 CausalMutation CLINVAR A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. 1423634

1992
dbSNP: rs121918490
rs121918490
FGFR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992
dbSNP: rs767350733
rs767350733
ALS2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. 1606479

1992
dbSNP: rs1553156053
rs1553156053
SLC2A1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. 1714544

1991
dbSNP: rs1553631770
rs1553631770
CTNNB1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 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
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR Birth of the D-E-A-D box. 2563148

1989
dbSNP: rs757823678
rs757823678
DNMT3A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 CausalMutation CLINVAR Predictive motifs derived from cytosine methyltransferases. 2717398

1989
dbSNP: rs781978013
rs781978013
KMT2A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 CausalMutation CLINVAR Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. 2738900

1989
dbSNP: rs1555186842
rs1555186842
KMT2D
CUI: C1849265
Disease: Overgrowth
Overgrowth 		AGTGCCCTT 0.700 CausalMutation CLINVAR Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. 3067577

1988
dbSNP: rs869025411
rs869025411
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 GeneticVariation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967

1986
dbSNP: rs113001196
rs113001196
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967

1986
dbSNP: rs387906309
rs387906309
HEXA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		GGATA 0.700 CausalMutation CLINVAR Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease. 3754980

1986
dbSNP: rs28940579
rs28940579
MEFV
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Remission of progressive renal failure in familial Mediterranean fever during colchicine treatment. 4015155

1985
dbSNP: rs121918490
rs121918490
FGFR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR Phenotypic variation in LADD syndrome. 4078868

1985
dbSNP: rs1555244216
rs1555244216
MED13L
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 GeneticVariation CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861

1971
dbSNP: rs28940579
rs28940579
MEFV
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Familial Mediterranean fever. A survey of 470 cases and review of the literature. 5340644

1967