Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150940923
rs150940923
THOC6
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. 27102954

2017
dbSNP: rs150940923
rs150940923
THOC6
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Confirming the candidacy of THOC6 in the etiology of intellectual disability. 26739162

2016
dbSNP: rs150940923
rs150940923
THOC6
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Intellectual disability associated with a homozygous missense mutation in THOC6. 23621916

2013
dbSNP: rs150940923
rs150940923
THOC6
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. 20503307

2010
dbSNP: rs150940923
rs150940923
THOC6
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP). 19059247

2009
dbSNP: rs150940923
rs150940923
THOC6
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Recruitment of the human TREX complex to mRNA during splicing. 15998806

2005
dbSNP: rs150940923
rs150940923
THOC6
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae. 11060033

2000