TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851943
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		0.720 GermlineCausalMutation disease ORPHANET
CUI: C1851943
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		0.720 CausalMutation disease CLINVAR
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		0.620 Biomarker disease CTD_human
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		0.620 GermlineCausalMutation disease ORPHANET
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.400 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1527344
Disease: Dysphonia
Dysphonia 		0.170 Biomarker phenotype HPO
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.140 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 Biomarker disease HPO
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia 		0.120 Biomarker disease HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.110 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.100 Biomarker disease HPO
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.100 GeneticVariation disease CLINVAR
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.100 Biomarker disease HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0040485
Disease: Torticollis
Torticollis 		0.100 Biomarker phenotype HPO