TUBA8, tubulin alpha 8, 51807

N. diseases: 36; N. variants: 4
Disease: Polymicrogyria With Optic Nerve Hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 Biomarker disease GENOMICS_ENGLAND Epilepsy-associated genes. 28007376 2017
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 Biomarker disease GENOMICS_ENGLAND Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. 19896110 2009
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 Biomarker disease GENOMICS_ENGLAND Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. 19896110 2009
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 GermlineCausalMutation disease ORPHANET Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. 19896110 2009
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 GeneticVariation disease BEFREE Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. 19896110 2009
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 CausalMutation disease CLINVAR
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 Biomarker disease CTD_human