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: 51196
Gene Symbol: PLCE1
PLCE1 		phospholipase C epsilon 1 0.572 0.654 5.7E-11
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 51479
Gene Symbol: ANKFY1
ANKFY1 		ankyrin repeat and FYVE domain containing 1 0.839 0.346 0.96
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: 54443
Gene Symbol: ANLN
ANLN 		anillin actin binding protein 0.644 0.500 0.14
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 9688
Gene Symbol: NUP93
NUP93 		nucleoporin 93 0.729 0.385 1.8E-06
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		disease 0.500 None 1.000 1 0 2016 2016