Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease. 30486714 2019
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. 26173967 2016
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 CausalMutation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 GermlineCausalMutation disease ORPHANET Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. 21092922 2010
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. 21092922 2010
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. 21092922 2010
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. 21092922 2010
CUI: C1850053
Disease: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		0.700 Biomarker disease CTD_human