Identity
HGNC
LOCATION
5q15
LOCUSID
ALIAS
KIAA0372,Ski3,THES
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9652
MIM: 614589
HGNC: 23639
Ensembl: ENSG00000198677
Variants:
dbSNP: 9652
ClinVar: 9652
TCGA: ENSG00000198677
COSMIC: TTC37
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10066 | duloxetine | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD | 29407288 | |
| PA447321 | Depressive Disorder, Major | Disease | ClinicalAnnotation, VariantAnnotation | associated | PD | 29407288 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34037310 | 2021 | Expanding the clinical spectrum in trichohepatoenteric syndrome. | 3 |
| 34037310 | 2021 | Expanding the clinical spectrum in trichohepatoenteric syndrome. | 3 |
| 29383842 | 2018 | 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. | 4 |
| 29527791 | 2018 | Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects. | 25 |
| 29383842 | 2018 | 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. | 4 |
| 29527791 | 2018 | Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects. | 25 |
| 26945392 | 2016 | Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency. | 10 |
| 27050310 | 2016 | Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. | 15 |
| 26945392 | 2016 | Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency. | 10 |
| 27050310 | 2016 | Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. | 15 |
| 25976726 | 2015 | Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. | 9 |
| 25976726 | 2015 | Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. | 9 |
| 21120949 | 2011 | Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. | 24 |
| 21120949 | 2011 | Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. | 24 |
| 20176027 | 2010 | Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). | 54 |
Citation
Dessen P
TTC37 (tetratricopeptide repeat domain 37)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75289/chromosome-explorer/gene-explorer/
