Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. 7493025

1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. 7573032

1995
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Abnormalities of chromosome band 11q23 and the MLL gene in pediatric myelomonocytic and monoblastic leukemias. Identification of the t(9;11) as an indicator of long survival. 7583381

1995
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR 4-Hydroxybutyric aciduria. 7726383

1994
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Defective myosin VIIA gene responsible for Usher syndrome type 1B. 7870171

1995
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Defective myosin VIIA gene responsible for Usher syndrome type 1B. 7870171

1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. 8177735

1993
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction. 8227220

1993
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. 8230592

1993
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138

1993
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations. 8361504

1993
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Imprinting in Albright's hereditary osteodystrophy. 8383205

1993
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. 8406445

1993
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 8434615

1993
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. 8563763

1996
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. 8563763

1996
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Lack of beta-catenin affects mouse development at gastrulation. 8582267

1995
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Idiopathic distal small fiber neuropathy. 8610490

1995
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Idiopathic distal small fiber neuropathy. 8610490

1995
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites. 8634439

1996
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains. 8643598

1996
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. 8776602

1996
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. 8776602

1996