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: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		disease 0.700 None 1.000 4 0 1982 2020
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		disease 0.630 None 1.000 0 0 1990 2007
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		disease 0.500 strong 1.000 1 0 1990 1990
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C4551965
Disease: ANAUXETIC DYSPLASIA 1
ANAUXETIC DYSPLASIA 1 		disease 0.400 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		disease 0.300 strong 1.000 2 0 2001 2006
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		disease 0.300 strong 1.000 1 0 1990 1990