Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 GeneticVariation disease BEFREE Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. 29527791 2018
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 GeneticVariation disease BEFREE A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families. 29383842 2018
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. 28292286 2017
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 GeneticVariation disease BEFREE Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. 28292286 2017
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 GeneticVariation disease BEFREE Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. 29145277 2017
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 GeneticVariation disease BEFREE Mutations in the tetratricopeptide repeat domain 37 (TTC37) gene and the superkiller viralicidic activity 2‑like (SKIV2L) gene have been identified to cause THES. 27431780 2016
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 GeneticVariation disease BEFREE We reported three point mutations, which have not been previously described in other patients with THES in SKIV2L and TTC37 genes, including one nonsense, one frameshift, and one missense mutations. 27050310 2016
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 GeneticVariation disease BEFREE WES in both cases showed biallelic truncating mutations in TTC37 (c.3507T>G;p.Y1169X and c.3601C>T;p.R1201X in case 1 and c.3507T>G;p.Y1169X and c.154G>T;p.E52X in case 2), suggesting a diagnosis of THE-S. 25976726 2015
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 GeneticVariation disease BEFREE We describe the molecular genetic basis of tricho-hepato-enteric syndrome in patients from Saudi Arabia with novel mutations of SKIV2L (c.3559_3579del, p.1187_1193del) and TTC37 (C4102T, p.Q1368X). 25714577 2015
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 GermlineCausalMutation disease ORPHANET Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. 23302111 2013
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 Biomarker disease BEFREE Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37. 22444670 2012
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 AlteredExpression disease BEFREE In contrast, TTC37 is not expressed in the liver, an organ that is not consistently affected in THE syndrome. 21120949 2011
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 GermlineCausalMutation disease ORPHANET Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). 20176027 2010
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 GeneticVariation disease BEFREE Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). 20176027 2010
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
0.700 Biomarker disease CTD_human