TBX6, T-box transcription factor 6, 6911

N. diseases: 33; N. variants: 10
Source: INFERRED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 CausalMutation disease CLINVAR TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 25564734 2015
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.900 CausalMutation disease CLINVAR Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 23335591 2013
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		0.120 Biomarker disease HPO
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation disease CLINVAR TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 25564734 2015
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		0.100 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0345397
Disease: Accessory rib
Accessory rib 		0.100 Biomarker disease HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0426789
Disease: Short thorax
Short thorax 		0.100 Biomarker phenotype HPO
CUI: C0426816
Disease: Absence of rib
Absence of rib 		0.100 Biomarker phenotype HPO