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. 2020 Mar 31;39(1):7–16. doi: 10.23876/j.krcp.20.001

Table 2.

Diseases under categories of nephrotic syndrome (NPHS) and focal segmental glomerulosclerosis (FSGS) in the Online Mendelian Inheritance in Man (OMIM)

Disease Gene Inheritance OMIM numbera Proteins
NPHS1 NPHS1 AR 256300 Nephrin
NPHS2 PDCN AR 600995 Podocin
NPHS3 PLCE1 AR 610725 Phospholipase c, epsilon-1
NPHS4 WT1 AD 256370 WT1 transcription factor
NPHS5 LAMB2 AR 614199 Laminin, beta-2
NPHS6 PTPRO AR 614196 Protein-tyrosine phosphatase, receptor-type, O
NPHS7 DGKE AR 615008 Diacylglycerol kinase, epsilon, 64-kDa
NPHS8 ARHGDIA AR 615244 Rho GDP-dissociation inhibitor alpha
NPHS9 COQ8B AR 615573 Coenzyme Q8B
NPHS10 EMP2 AR 615861 Epithelial membrane protein 2
NPHS11 NUP107 AR 616730 Nucleoporin, 107-kDa
NPHS12 NUP93 AR 616892 Nucleoporin, 93-kDa
NPHS13 NUP205 AR 616893 Nucleoporin, 205-kDa
NPHS14 SGPL1 AR 617575 Sphingosine-1-phosphate lyase 1
NPHS15 MAGI2 AR 617609 Membrane-associated guanylate kinase, WW and PDZ domain-containing, 2
NPHS16 KANK2 AR 617783 KN motif- and Ankyrin repeat domain-containing protein 2
NPHS17 NUP85 AR 618176 Nucleoporin, 85-kDa
NPHS18 NUP133 AR 618177 Nucleoporin, 133-kDa
NPHS19 NUP160 AR 618178 Nucleoporin, 160-kDa
NPHS20 TBC1D8B XL 301028 TBC1 domain family, member 8B
NPHS21 AVIL AR 618594 Advillin
FSGS1 ACTN4 AD 603278 Actinin, alpha 4
FSGS2 TRPC6 AD 603965 Transient receptor potential cation channel, subfamily C, member 6
FSGS3 CD2AP AR/AD 607832 CD2-associated protein
FSGS4 APOL1 AR 612551 Apolipoprotein L-I
FSGS5 INF2 AD 613237 Inverted formin 2
FSGS6 MYO1E AR 614131 Myosin IE
FSGS7 PAX2 AD 616002 Paired box protein 2
FSGS8 ANLN AD 616032 Actin binding protein anillin
FSGS9 CRB2 AR 616220 Crumbs cell polarity complex component 2

AD, autosomal dominant; AR, autosomal recessive.

a

Phenotype number.