Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C3554129
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		disease 0.700 None 1.000 4 0 2012 2019
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C1824925
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 70
DEAFNESS, AUTOSOMAL RECESSIVE 70 		disease 0.600 None 1.000 3 0 2012 2019
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.400 None 1.000 2 0 2012 2016
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.400 limited 1.000 1 0 2012 2012
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 moderate 1.000 1 0 2019 2019