PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.110 GeneticVariation disease CLINVAR
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 GeneticVariation disease CLINVAR
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0018946
Disease: Hematoma, Subdural
Hematoma, Subdural 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 GeneticVariation disease CLINVAR
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation disease CLINVAR
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 GeneticVariation disease CLINVAR
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.100 GeneticVariation disease CLINVAR
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0239137
Disease: Coxa valga
Coxa valga 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.100 Biomarker phenotype HPO