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: 79621
Gene Symbol: RNASEH2B
RNASEH2B
ribonuclease H2 subunit B 0.595 0.615 3.3E-09
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
phenotype 0.400 None 1.000 1 0 2017 2017
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
phenotype 0.310 strong 1.000 2 0 2005 2013
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
phenotype 0.300 strong 1.000 2 0 2012 2019