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: 5191
Gene Symbol: PEX7
PEX7
peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
disease 0.980 None 0.964 4 0 1995 2017
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C2749346
Disease: Refsum Disease, Adult, 2
Refsum Disease, Adult, 2
disease 0.700 None 1.000 2 0 1997 2016
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0034960
Disease: Refsum Disease
Refsum Disease
disease 0.660 None 1.000 1 0 1997 2012
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders
group 0.350 strong 0.800 0 0 1997 2011
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease 0.300 None 0 0