TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease CLINVAR
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		0.800 Biomarker disease CTD_human
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		0.580 Biomarker disease MGD
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp 		0.500 Biomarker disease HPO
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.400 Biomarker disease HPO
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		0.390 GeneticVariation disease ORPHANET
CUI: C0040822
Disease: Tremor
Tremor 		0.120 Biomarker phenotype HPO
CUI: C0040485
Disease: Torticollis
Torticollis 		0.110 Biomarker phenotype HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.100 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0031212
Disease: Personality Disorders
Personality Disorders 		0.100 Biomarker group HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0086769
Disease: Panic Attacks
Panic Attacks 		0.100 Biomarker disease HPO
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		0.100 Biomarker phenotype HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		0.100 Biomarker disease HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C3697670
Disease: Spinal cord myoclonus
Spinal cord myoclonus 		0.100 Biomarker disease HPO