TMEM240, transmembrane protein 240, 339453

N. diseases: 40; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21
0.740 Biomarker disease CTD_human
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21
0.740 CausalMutation disease CLINVAR
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21
0.740 GeneticVariation disease CLINVAR
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.110 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 Biomarker group HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
0.100 Biomarker phenotype HPO
CUI: C0012569
Disease: Diplopia
Diplopia
0.100 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
0.100 Biomarker phenotype HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0040822
Disease: Tremor
Tremor
0.100 Biomarker phenotype HPO
CUI: C0085623
Disease: Akinesia
Akinesia
0.100 Biomarker disease HPO
CUI: C0085632
Disease: Apathy
Apathy
0.100 Biomarker phenotype HPO
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity
0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
0.100 Biomarker phenotype HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype HPO
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
0.100 Biomarker phenotype HPO
CUI: C0234144
Disease: Dysgraphia
Dysgraphia
0.100 Biomarker disease HPO
CUI: C0234378
Disease: Static Tremor
Static Tremor
0.100 Biomarker phenotype HPO
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.100 Biomarker group HPO
CUI: C0278184
Disease: Scanning speech
Scanning speech
0.100 Biomarker phenotype HPO
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.100 Biomarker disease HPO