Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | CausalMutation | disease | CLINVAR | Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. | 29567474 | 2018 | ||||
|
0.720 | GeneticVariation | disease | BEFREE | Here we show that TCS3-associated missense mutations cause aberrant intracellular localization of POLR1C, inhibiting chondrogenic differentiation. | 29567474 | 2018 | ||||
|
0.720 | GeneticVariation | disease | BEFREE | tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy. | 28272532 | 2017 | ||||
|
0.720 | GeneticVariation | disease | UNIPROT | Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. | 26151409 | 2015 | ||||
|
0.720 | GeneticVariation | disease | CLINVAR | Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. | 26151409 | 2015 | ||||
|
0.720 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. | 21131976 | 2011 | ||||
|
0.720 | GeneticVariation | disease | UNIPROT | Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. | 21131976 | 2011 | ||||
|
0.720 | CausalMutation | disease | CLINVAR | Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. | 21131976 | 2011 | ||||
|
0.720 | GeneticVariation | disease | CLINVAR | Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. | 21131976 | 2011 | ||||
|
0.720 | Biomarker | disease | GENOMICS_ENGLAND | Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. | 9653160 | 1998 | ||||
|
0.720 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.720 | Biomarker | disease | CTD_human |