Phenotype: Serositis (HP:0045073)
Associated genes and diseases:
gene_symbol: HLA-B
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:29207
disease_name: Reactive arthritis
Fiessinger-Leroy disease
gene_symbol: HLA-B
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: P4HA2
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: LACC1
disease_id: ORPHA:85414
disease_name: Systemic-onset juvenile idiopathic arthritis
Still disease
Systemic-onset JIA
gene_symbol: MIF
disease_id: ORPHA:85414
disease_name: Systemic-onset juvenile idiopathic arthritis
Still disease
Systemic-onset JIA
gene_symbol: IL6
disease_id: ORPHA:85414
disease_name: Systemic-onset juvenile idiopathic arthritis
Still disease
Systemic-onset JIA
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: MEFV
disease_id: ORPHA:342
disease_name: Familial Mediterranean fever
Benign paroxysmal peritonitis
Benign recurrent polyserositis
FMF
Familial paroxysmal polyserositis
Periodic disease
gene_symbol: MEFV
disease_id: OMIM:249100
disease_name: FAMILIAL MEDITERRANEAN FEVER
gene_symbol: MEFV
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: MAF
disease_id: ORPHA:1272
disease_name: Aymé-Gripp syndrome
Brachycephaly-deafness-cataract-intellectual disability syndrome
Brachycephaly-hearing loss-cataract-intellectual disability syndrome
Fine-Lubinsky syndrome
gene_symbol: MAF
disease_id: OMIM:601088
disease_name: AYME-GRIPP SYNDROME
gene_symbol: RNU7-1
disease_id: OMIM:619487
disease_name: AICARDI-GOUTIERES SYNDROME 9
gene_symbol: PRG4
disease_id: ORPHA:2848
disease_name: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Arthropathy-camptodactyly syndrome
CACP syndrome
Pericarditis-arthropathy-camptodactyly syndrome
gene_symbol: IRF4
disease_id: ORPHA:3452
disease_name: Whipple disease
Intestinal lipodystrophy
gene_symbol: TNFRSF1A
disease_id: ORPHA:32960
disease_name: Tumor necrosis factor receptor 1 associated periodic syndrome
Familial Hibernian fever
TNF receptor 1-associated periodic syndrome
TRAPS syndrome
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: PMM2
disease_id: OMIM:212065
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
gene_symbol: NOD2
disease_id: ORPHA:90340
disease_name: Blau syndrome
gene_symbol: NOD2
disease_id: OMIM:186580
disease_name: BLAU SYNDROME
gene_symbol: NOD2
disease_id: OMIM:617321
disease_name: YAO SYNDROME
gene_symbol: FCGR2A
disease_id: OMIM:152700
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS
gene_symbol: HBA1
disease_id: ORPHA:163596
disease_name: Hb Bart's hydrops fetalis
Alpha-thalassemia hydrops fetalis
Alpha-thalassemia major
BHFS
HBHF
Haemoglobin Bart's disease
Haemoglobin Bart's hydrops fetalis
Haemoglobin Bart's hydrops fetalis syndrome
Hb Bart's hydrops fetalis syndrome
Hemoglobin Bart's disease
Hemoglobin Bart's hydrops fetalis
Hemoglobin Bart's hydrops fetalis syndrome
Homozygous alpha0-thalassemia
gene_symbol: HBA2
disease_id: ORPHA:163596
disease_name: Hb Bart's hydrops fetalis
Alpha-thalassemia hydrops fetalis
Alpha-thalassemia major
BHFS
HBHF
Haemoglobin Bart's disease
Haemoglobin Bart's hydrops fetalis
Haemoglobin Bart's hydrops fetalis syndrome
Hb Bart's hydrops fetalis syndrome
Hemoglobin Bart's disease
Hemoglobin Bart's hydrops fetalis
Hemoglobin Bart's hydrops fetalis syndrome
Homozygous alpha0-thalassemia
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: CCR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: FAS
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A-AS1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: TLR4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IFNGR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: UBAC2
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: ERAP1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: KLRC4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: CALR
disease_id: ORPHA:131
disease_name: Budd-Chiari syndrome
BCS
gene_symbol: JAK2
disease_id: ORPHA:131
disease_name: Budd-Chiari syndrome
BCS
gene_symbol: F5
disease_id: ORPHA:131
disease_name: Budd-Chiari syndrome
BCS
gene_symbol: MYH11
disease_id: OMIM:619351
disease_name: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: CFB
disease_id: OMIM:615561
disease_name: COMPLEMENT FACTOR B DEFICIENCY
gene_symbol: BRCA1
disease_id: ORPHA:168829
disease_name: Primary peritoneal carcinoma
EOPPC
Extra-ovarian primary peritoneal carcinoma
PPC
Primary peritoneal serous carcinoma
Serous surface papillary carcinoma
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: CDC45
disease_id: OMIM:617063
disease_name: MEIER-GORLIN SYNDROME 7
gene_symbol: MVK
disease_id: OMIM:260920
disease_name: HYPER-IgD SYNDROME
gene_symbol: FCGR3B
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: STAT4
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: ITGAM
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IL10
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: JAZF1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TREX1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TNFSF4
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: BLK
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: C4A
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: BANK1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IGHG1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IRAK1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: CTLA4
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: PTPN22
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: CR2
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: PDCD1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: ETS1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: FCGR2B
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TNIP1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: UBE2L3
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: KIAA0319L
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: MECP2
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IRF5
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: HLA-DRB1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: C4B
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: DNASE1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TLR7
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: SPP1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: PXK
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TNFAIP3
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE