Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. 8840969

1996
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236

1996
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236

1996
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. 8913181

1996
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. 8941093

1996
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. 8941093

1996
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. 8981943

1997
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons. 9037087

1997
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons. 9037087

1997
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway. 9060476

1997
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. 9063735

1997
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings. 9073025

1997
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. 9096761

1997
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 9126059

1997
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 9126059

1997
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Structure and organization of GABRB3 and GABRA5. 9126483

1997
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. 9171833

1997
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. 9171833

1997
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma. 9231911

1997
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features. 9285441

1997
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 9288758

1997
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. 9354784

1997
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. 9354784

1997
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Functional coherence of the human Y chromosome. 9381176

1997
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. 9382091

1997