TUBG1, tubulin gamma 1, 7283

N. diseases: 22; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809420
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 		0.700 Biomarker disease GENOMICS_ENGLAND Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. 29706637 2018
CUI: C3809420
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 		0.700 Biomarker disease GENOMICS_ENGLAND Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. 29671837 2018
CUI: C3809420
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 		0.700 GeneticVariation disease UNIPROT Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3809420
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 		0.700 CausalMutation disease CLINVAR
CUI: C3809420
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 		0.700 Biomarker disease CTD_human
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.400 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.400 Biomarker disease HPO
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.320 GeneticVariation disease BEFREE De novo heterozygous missense variants in the γ-tubulin gene TUBG1 have been linked to human malformations of cortical development associated with intellectual disability and epilepsy. 31086189 2019
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.320 Biomarker disease BEFREE Inputs from genetic studies were provided through the identification of several mutated genes encoding either proteins associated with microtubules (DCX, LIS1, KIF2A, KIF5C, DYNC1H1) or tubulin subunits (TUBA1A, TUBB2B, TUBB5 and TUBG1), in malformations of cortical development (MCD). 24179174 2014
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.320 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.310 GeneticVariation disease BEFREE Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly. 29706637 2018
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.310 GeneticVariation disease BEFREE The core phenotype of TUBA1A and TUBG1 tubulinopathies are lissencephalies and microlissencephalies, whereas TUBB2B tubulinopathies show in the majority, centrally predominant polymicrogyria-like cortical dysplasia. 24860126 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.310 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.310 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		0.300 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.110 GeneticVariation disease BEFREE Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly. 29706637 2018
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.110 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		0.100 Biomarker disease HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C1879312
Disease: Agyria
Agyria 		0.100 Biomarker disease HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 GeneticVariation disease BEFREE Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. 25830658 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 GeneticVariation disease BEFREE Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. 25830658 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 GeneticVariation disease BEFREE A two SNP combination of rs10145182 in NIN and rs2134808 in the TUBG1 locus (P-interaction = 0.00001), suggested SNPs in mediators of microtubule nucleation from the centrosome contribute to breast cancer. 20508983 2011