Source: ORPHANET

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: 79902
Gene Symbol: NUP85
NUP85 		nucleoporin 85 0.792 0.154 1.00
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 79023
Gene Symbol: NUP37
NUP37 		nucleoporin 37 0.736 0.423 1.1E-05
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		NPHS2 stomatin family member, podocin 0.576 0.538 7.2E-09
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		disease 0.610 None 1.000 1 0 2000 2018
Entrez Id: 54885
Gene Symbol: TBC1D8B
TBC1D8B 		TBC1 domain family member 8B 0.805 0.231 6.0E-09
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		disease 0.300 None 1.000 1 0 2019 2019