Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
0.430 GeneticVariation group BEFREE Recently, a TMCO1 gene mutation was shown to be responsible for an autosomal recessive CFTD syndrome characterized by craniofacial dysmorphism, skeletal anomalies, and intellectual disability. 31102500 2019
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
0.430 GeneticVariation group BEFREE TMCO1 mutations cause craniofacial dysmorphism, skeletal anomalies characterized by multiple malformations of the vertebrae and ribs, and intellectual disability (MIM#614132). 24424126 2014
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
0.430 GeneticVariation group BEFREE Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. 20018682 2010
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
0.430 Biomarker group CTD_human Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. 20018682 2010
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
0.430 Biomarker group HPO