TUBB8, tubulin beta 8 class VIII, 347688

N. diseases: 3; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2 		0.600 GeneticVariation disease UNIPROT Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos. 27273344 2016
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2 		0.600 GeneticVariation disease UNIPROT Mutations in TUBB8 and Human Oocyte Meiotic Arrest. 26789871 2016
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2 		0.600 CausalMutation disease CLINVAR
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2 		0.600 Biomarker disease CTD_human
CUI: C4227845
Disease: Oocyte arrest at metaphase I
Oocyte arrest at metaphase I 		0.100 GeneticVariation phenotype CLINVAR Oocyte maturation arrest produced by 32063091 2020
CUI: C0021361
Disease: Female infertility
Female infertility 		0.100 Biomarker phenotype HPO
CUI: C4227845
Disease: Oocyte arrest at metaphase I
Oocyte arrest at metaphase I 		0.100 Biomarker phenotype HPO