Phenotype: Amyloidosis (HP:0011034)
Associated genes and diseases:
gene_symbol: NLRP3
disease_id: ORPHA:575
disease_name: Muckle-Wells syndrome
Neutrophilic urticaria
gene_symbol: NLRP3
disease_id: OMIM:191900
disease_name: MUCKLE-WELLS SYNDROME
gene_symbol: NLRP3
disease_id: OMIM:120100
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
gene_symbol: MMP1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: B2M
disease_id: ORPHA:314652
disease_name: Variant ABeta2M amyloidosis
Autosomal dominant beta2-microglobulinic amyloidosis
gene_symbol: FGA
disease_id: OMIM:105200
disease_name: AMYLOIDOSIS, FAMILIAL VISCERAL
gene_symbol: GSN
disease_id: OMIM:105120
disease_name: AMYLOIDOSIS, FINNISH TYPE
gene_symbol: TACSTD2
disease_id: ORPHA:98957
disease_name: Gelatinous drop-like corneal dystrophy
GDCD
Primary familial amyloidosis of the cornea
Subepithelial amyloidosis of the cornea
gene_symbol: HGD
disease_id: ORPHA:56
disease_name: Alkaptonuria
Hereditary ochronosis
Homogentisic acid oxidase deficiency
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: GPR35
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: SEMA4D
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: MST1
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: TCF4
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: CST3
disease_id: ORPHA:100008
disease_name: ACys amyloidosis
CST3-related amyloidosis
Cystatin amyloidosis
HCHWA, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cystatin C amyloid angiopathy
gene_symbol: SAA1
disease_id: ORPHA:85445
disease_name: AA amyloidosis
Inflammatory amyloidosis
Reactive amyloidosis
gene_symbol: NLRP1
disease_id: OMIM:615225
disease_name: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
gene_symbol: LYZ
disease_id: OMIM:620658
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5
gene_symbol: ASXL1
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: TET2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: KIT
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: SRSF2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: APOA1
disease_id: OMIM:620657
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3
gene_symbol: CCND1
disease_id: OMIM:254500
disease_name: MYELOMA, MULTIPLE
gene_symbol: LIG4
disease_id: OMIM:254500
disease_name: MYELOMA, MULTIPLE
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: PSEN2
disease_id: OMIM:606889
disease_name: ALZHEIMER DISEASE 4
gene_symbol: APOE
disease_id: OMIM:606889
disease_name: ALZHEIMER DISEASE 4
gene_symbol: APP
disease_id: OMIM:605714
disease_name: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
gene_symbol: APP
disease_id: ORPHA:100006
disease_name: ABeta amyloidosis, Dutch type
ABetaE22Q amyloidosis
HCHWA, Dutch type
HCHWA-D
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
gene_symbol: ITM2B
disease_id: OMIM:176500
disease_name: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
gene_symbol: ITM2B
disease_id: OMIM:117300
disease_name: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2
gene_symbol: TNFRSF1A
disease_id: OMIM:142680
disease_name: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
gene_symbol: OSMR
disease_id: OMIM:105250
disease_name: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
gene_symbol: POLA1
disease_id: OMIM:301220
disease_name: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED
gene_symbol: IL31RA
disease_id: OMIM:613955
disease_name: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2
gene_symbol: RET
disease_id: OMIM:171400
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
gene_symbol: PRNP
disease_id: ORPHA:282166
disease_name: Inherited Creutzfeldt-Jakob disease
Inherited CJD
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: STAT4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL10
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: HLA-B
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: C4A
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