MTPAP, mitochondrial poly(A) polymerase, 55149

N. diseases: 104; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150925
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 27959697 2017
CUI: C3150925
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 27391121 2016
CUI: C3150925
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 27391121 2016
CUI: C3150925
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Defective mitochondrial mRNA maturation is associated with spastic ataxia. 20970105 2010
CUI: C3150925
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 		0.700 GermlineCausalMutation disease ORPHANET Defective mitochondrial mRNA maturation is associated with spastic ataxia. 20970105 2010
CUI: C3150925
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3150925
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C3150925
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C0025202
Disease: melanoma
melanoma 		0.300 Biomarker disease CTD_human Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation. 22535842 2012
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.100 Biomarker phenotype HPO
CUI: C0085633
Disease: Mood swings
Mood swings 		0.100 Biomarker disease HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		0.100 Biomarker phenotype HPO
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.100 Biomarker disease HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0.100 Biomarker phenotype HPO
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		0.100 Biomarker phenotype HPO