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: 7471
Gene Symbol: WNT1
WNT1
Wnt family member 1 0.495 0.769 0.33
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.400 strong 0.950 2 0 1990 2019
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
secreted protein acidic and cysteine rich 0.445 0.846 0.89
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.520 strong 1.000 1 0 1991 2018
Entrez Id: 55603
Gene Symbol: TENT5A
TENT5A
terminal nucleotidyltransferase 5A 0.695 0.577 0.92
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 55151
Gene Symbol: TMEM38B
TMEM38B
transmembrane protein 38B 0.780 0.231 2.0E-02
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.390 strong 1.000 1 0 2012 2017
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 0.559 0.654 6.7E-08
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.350 strong 0.800 1 0 2004 2020
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
serpin family F member 1 0.460 0.846 7.8E-08
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.600 strong 1.000 1 0 2011 2018
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
prolyl 4-hydroxylase subunit beta 0.488 0.808 1.00
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.320 strong 1.000 1 0 2015 2019
Entrez Id: 23184
Gene Symbol: MESD
MESD
mesoderm development LRP chaperone 0.805 0.192 0.63
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.310 moderate 1.000 1 0 2019 2019
Entrez Id: 202018
Gene Symbol: TAPT1
TAPT1
transmembrane anterior posterior transformation 1 0.674 0.538 3.2E-02
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.700 strong 0.977 0 0 1980 2020
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.900 None 0.984 0 0 1985 2020