Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker HPO