Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.130 CausalMutation disease CLINVAR
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.120 GeneticVariation disease CLINVAR
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 CausalMutation disease CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.110 CausalMutation disease CLINVAR
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.110 CausalMutation disease CLINVAR
Entrez Id: 4617
Gene Symbol: MYF5
MYF5 		0.110 CausalMutation disease CLINVAR
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		0.100 GeneticVariation disease CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4 		0.100 GeneticVariation disease CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		0.100 CausalMutation disease CLINVAR A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 29079548 2018
Entrez Id: 23065
Gene Symbol: EMC1
EMC1 		0.100 GeneticVariation disease CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1 		0.100 GeneticVariation disease CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017
Entrez Id: 1630
Gene Symbol: DCC
DCC 		0.100 CausalMutation disease CLINVAR Biallelic mutations in human DCC cause developmental split-brain syndrome. 28250456 2017
Entrez Id: 23065
Gene Symbol: EMC1
EMC1 		0.100 GeneticVariation disease CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.100 CausalMutation disease CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1 		0.100 GeneticVariation disease CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
Entrez Id: 6911
Gene Symbol: TBX6
TBX6 		0.100 GeneticVariation disease CLINVAR TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 25564734 2015
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.100 GeneticVariation disease CLINVAR Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. 24789864 2014
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.100 GeneticVariation disease CLINVAR Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953 2012
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3 		0.100 CausalMutation disease CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.100 GeneticVariation disease CLINVAR Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 20037588 2010
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.100 GeneticVariation disease CLINVAR Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 20037586 2010
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 19206176 2009
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947 2008