Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
0.100 CausalMutation disease CLINVAR Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. 27102954 2017
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
0.100 CausalMutation disease CLINVAR Confirming the candidacy of THOC6 in the etiology of intellectual disability. 26739162 2016
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
0.100 CausalMutation disease CLINVAR Intellectual disability associated with a homozygous missense mutation in THOC6. 23621916 2013
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
0.100 CausalMutation disease CLINVAR A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. 20503307 2010
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
0.100 CausalMutation disease CLINVAR Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP). 19059247 2009
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
0.100 CausalMutation disease CLINVAR Recruitment of the human TREX complex to mRNA during splicing. 15998806 2005
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
0.100 CausalMutation disease CLINVAR A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae. 11060033 2000