PUM1, pumilio RNA binding family member 1, 9698

N. diseases: 13; N. variants: 4
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693672
Disease: SPINOCEREBELLAR ATAXIA 47
SPINOCEREBELLAR ATAXIA 47 		0.600 GeneticVariation disease UNIPROT A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. 29474920 2018
CUI: C4693672
Disease: SPINOCEREBELLAR ATAXIA 47
SPINOCEREBELLAR ATAXIA 47 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446 2020
CUI: C0004134
Disease: Ataxia
Ataxia 		0.310 Biomarker phenotype GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446 2020
CUI: C0036572
Disease: Seizures
Seizures 		0.310 Biomarker phenotype GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446 2020
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.300 Biomarker disease GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker disease GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446 2020
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.300 Biomarker phenotype GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446 2020
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.300 Biomarker phenotype CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015