AGTPBP1, ATP/GTP binding protein 1, 23287

N. diseases: 63; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748934
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY 		0.610 CausalMutation disease CLINVAR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.200 Biomarker disease MGD
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1 		0.200 Biomarker disease MGD
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 CausalMutation disease CLINVAR
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 CausalMutation group CLINVAR
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 CausalMutation phenotype CLINVAR
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		0.100 CausalMutation phenotype CLINVAR
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation disease CLINVAR
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		0.100 CausalMutation disease CLINVAR
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		0.100 Biomarker phenotype HPO
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		0.100 CausalMutation disease CLINVAR
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		0.100 GeneticVariation disease CLINVAR
CUI: C0423082
Disease: Hypometric saccades
Hypometric saccades 		0.100 CausalMutation phenotype CLINVAR
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.100 CausalMutation phenotype CLINVAR
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.100 CausalMutation disease CLINVAR
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO