THAP11, THAP domain containing 11, 57215

N. diseases: 23; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78033862
rs78033862
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs28647874
rs28647874
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs188675529
rs188675529
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C1837658
Disease:
Gross motor development delay 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs188675529
rs188675529
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C0268583
Disease:
Methylmalonic acidemia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs188675529
rs188675529
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C0221356
Disease:
Brachycephaly 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs188675529
rs188675529
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C1843367
Disease:
Poor school performance 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs188675529
rs188675529
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs188675529
rs188675529
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C0796208
Disease:
MENTAL RETARDATION, X-LINKED 3 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs188675529
rs188675529
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C0036572
Disease:
Seizures 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs188675529
rs188675529
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C0349588
Disease:
Short stature 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs188675529
rs188675529
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C4551563
Disease:
Microcephaly (physical finding) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs188675529
rs188675529
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C2315100
Disease:
Pediatric failure to thrive 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs188675529
rs188675529
Entrez Id: 57215;80152
Gene Symbol: THAP11;CENPT
THAP11;CENPT
CUI: C1855119
Disease:
Methylmalonic aciduria 		G 0.700 GeneticVariation CLINVAR