Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated genes and diseases:
gene_symbol: TRPC6
disease_id: OMIM:603965
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
gene_symbol: TRPC6
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: MT-TF
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TQ
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO3
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TW
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND5
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND6
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND4
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TL1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TH
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: REN
disease_id: OMIM:613092
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4
gene_symbol: TP53RK
disease_id: OMIM:617730
disease_name: GALLOWAY-MOWAT SYNDROME 4
gene_symbol: SGPL1
disease_id: OMIM:617575
disease_name: NEPHROTIC SYNDROME, TYPE 14
gene_symbol: LAGE3
disease_id: OMIM:301006
disease_name: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
gene_symbol: PAX2
disease_id: OMIM:616002
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
gene_symbol: PAX2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
gene_symbol: NEK8
disease_id: OMIM:620903
disease_name: OMIM:620903
gene_symbol: TPRKB
disease_id: OMIM:617731
disease_name: GALLOWAY-MOWAT SYNDROME 5
gene_symbol: WDR4
disease_id: OMIM:618347
disease_name: GALLOWAY-MOWAT SYNDROME 6
gene_symbol: NOP10
disease_id: OMIM:620425
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2
gene_symbol: NUP107
disease_id: OMIM:618348
disease_name: GALLOWAY-MOWAT SYNDROME 7
gene_symbol: NUP107
disease_id: OMIM:616730
disease_name: NEPHROTIC SYNDROME, TYPE 11
gene_symbol: NUP107
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP133
disease_id: OMIM:618349
disease_name: GALLOWAY-MOWAT SYNDROME 8
gene_symbol: NUP133
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP133
disease_id: OMIM:618177
disease_name: NEPHROTIC SYNDROME, TYPE 18
gene_symbol: WDR73
disease_id: OMIM:251300
disease_name: GALLOWAY-MOWAT SYNDROME 1
gene_symbol: ITGA3
disease_id: OMIM:614748
disease_name: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
gene_symbol: CLCN5
disease_id: OMIM:308990
disease_name: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
gene_symbol: WT1
disease_id: ORPHA:347
disease_name: Frasier syndrome
gene_symbol: WT1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: WT1
disease_id: OMIM:256370
disease_name: NEPHROTIC SYNDROME, TYPE 4
gene_symbol: WT1
disease_id: OMIM:194080
disease_name: DENYS-DRASH SYNDROME
gene_symbol: WT1
disease_id: OMIM:136680
disease_name: FRASIER SYNDROME
gene_symbol: SLC37A4
disease_id: OMIM:232220
disease_name: GLYCOGEN STORAGE DISEASE Ib
gene_symbol: SLC37A4
disease_id: OMIM:232240
disease_name: GLYCOGEN STORAGE DISEASE Ic
gene_symbol: ACTN4
disease_id: OMIM:603278
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1
gene_symbol: ACTN4
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: CD2AP
disease_id: OMIM:607832
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO
gene_symbol: CD2AP
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: KIRREL1
disease_id: OMIM:619201
disease_name: NEPHROTIC SYNDROME, TYPE 23
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: NUP205
disease_id: OMIM:616893
disease_name: NEPHROTIC SYNDROME, TYPE 13
gene_symbol: NUP205
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
gene_symbol: NUP93
disease_id: OMIM:616892
disease_name: NEPHROTIC SYNDROME, TYPE 12
gene_symbol: NUP93
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: PTPRO
disease_id: OMIM:614196
disease_name: NEPHROTIC SYNDROME, TYPE 6
gene_symbol: PTPRO
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: SMARCAL1
disease_id: ORPHA:1830
disease_name: Schimke immuno-osseous dysplasia
Schimke syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome
gene_symbol: SMARCAL1
disease_id: OMIM:242900
disease_name: SCHIMKE IMMUNOOSSEOUS DYSPLASIA
gene_symbol: VPS33A
disease_id: OMIM:617303
disease_name: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: GON7
disease_id: OMIM:619603
disease_name: GALLOWAY-MOWAT SYNDROME 9
gene_symbol: LMX1B
disease_id: OMIM:256020
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10
gene_symbol: NPHS1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: MYO1E
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: MYO1E
disease_id: OMIM:614131
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
gene_symbol: INF2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: INF2
disease_id: OMIM:613237
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
gene_symbol: INF2
disease_id: OMIM:614455
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
gene_symbol: GAPVD1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ANKFY1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: KANK2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ANLN
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ANLN
disease_id: OMIM:616032
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8
gene_symbol: AVIL
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: CRB2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: CRB2
disease_id: OMIM:616220
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
gene_symbol: EMP2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP37
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: PLCE1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: PLCE1
disease_id: OMIM:610725
disease_name: NEPHROTIC SYNDROME, TYPE 3
gene_symbol: NUP85
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP85
disease_id: OMIM:618176
disease_name: NEPHROTIC SYNDROME, TYPE 17
gene_symbol: COL4A3
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ARHGDIA
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: COQ8B
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: COQ8B
disease_id: OMIM:615573
disease_name: NEPHROTIC SYNDROME, TYPE 9
gene_symbol: NUP160
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP160
disease_id: OMIM:618178
disease_name: NEPHROTIC SYNDROME, TYPE 19
gene_symbol: MAGI2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: APOL1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: APOL1
disease_id: OMIM:612551
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO
gene_symbol: TBC1D8B
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: TBC1D8B
disease_id: OMIM:301028
disease_name: NEPHROTIC SYNDROME, TYPE 20
gene_symbol: LAMA5
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: LAMA5
disease_id: OMIM:620049
disease_name: NEPHROTIC SYNDROME, TYPE 26
gene_symbol: NPHS2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NPHS2
disease_id: OMIM:600995
disease_name: NEPHROTIC SYNDROME, TYPE 2
gene_symbol: ARHGAP24
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: DAAM2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: DAAM2
disease_id: OMIM:619263
disease_name: NEPHROTIC SYNDROME, TYPE 24
gene_symbol: COQ2
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: APTX
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: DKC1
disease_id: OMIM:301108
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1
gene_symbol: G6PC1
disease_id: OMIM:232200
disease_name: GLYCOGEN STORAGE DISEASE Ia
gene_symbol: COQ6
disease_id: OMIM:614650
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 6
gene_symbol: NARS2
disease_id: OMIM:616239
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
gene_symbol: SCARB2
disease_id: OMIM:254900
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome