Phenotype: Pulmonary embolism (HP:0002204)
Associated genes and diseases:
gene_symbol: GDF2
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: ACVRL1
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: SMAD4
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: ENG
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: CBS
disease_id: ORPHA:394
disease_name: Homocystinuria due to cystathionine beta-synthase deficiency
CBS-deficient HCU
Classical homocystinuria
Cystathionine beta-synthase deficiency
Cystathionine beta-synthase-deficient homocystinuria
Homocystinuria due to CBS deficiency
gene_symbol: RHAG
disease_id: OMIM:185000
disease_name: OVERHYDRATED HEREDITARY STOMATOCYTOSIS
gene_symbol: F13A1
disease_id: OMIM:188050
disease_name: THROMBOPHILIA DUE TO THROMBIN DEFECT
gene_symbol: F2
disease_id: OMIM:188050
disease_name: THROMBOPHILIA DUE TO THROMBIN DEFECT
gene_symbol: HABP2
disease_id: OMIM:188050
disease_name: THROMBOPHILIA DUE TO THROMBIN DEFECT
gene_symbol: MTHFR
disease_id: OMIM:188050
disease_name: THROMBOPHILIA DUE TO THROMBIN DEFECT
gene_symbol: THBD
disease_id: OMIM:614486
disease_name: THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT
gene_symbol: JAK2
disease_id: ORPHA:729
disease_name: Polycythemia vera
Acquired primary erythrocytosis
Osler-Vaquez disease
PV
Polycythemia rubra vera
Vaquez disease
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: SERPINC1
disease_id: OMIM:613118
disease_name: ANTITHROMBIN III DEFICIENCY
gene_symbol: SERPINC1
disease_id: ORPHA:82
disease_name: Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
gene_symbol: PROC
disease_id: OMIM:612304
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: PROC
disease_id: ORPHA:745
disease_name: Severe hereditary thrombophilia due to congenital protein C deficiency
Autosomal recessive thrombophilia due to PC deficiency
Autosomal recessive thrombophilia due to congenital protein C deficiency
gene_symbol: PROC
disease_id: OMIM:176860
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
gene_symbol: AGGF1
disease_id: ORPHA:90308
disease_name: Klippel-Trénaunay syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:90308
disease_name: Klippel-Trénaunay syndrome
gene_symbol: PROS1
disease_id: ORPHA:743
disease_name: Severe hereditary thrombophilia due to congenital protein S deficiency
Autosomal recessive thrombophilia due to congenital protein S deficiency
gene_symbol: PROS1
disease_id: OMIM:614514
disease_name: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: PROS1
disease_id: OMIM:612336
disease_name: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
gene_symbol: GNAQ
disease_id: ORPHA:624
disease_name: Familial multiple nevi flammei
Familial multiple port-wine stains
gene_symbol: GNAQ
disease_id: ORPHA:3205
disease_name: Sturge-Weber syndrome
Encephalofacial angiomatosis
Encephalotrigeminal angiomatosis
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: PIGA
disease_id: ORPHA:447
disease_name: Paroxysmal nocturnal hemoglobinuria
Marchiafava-Micheli disease
PNH
gene_symbol: PLP1
disease_id: ORPHA:99015
disease_name: Spastic paraplegia type 2
SPG2
Spastic gait type 2
Spastic paraparesis type 2
X-linked spastic paraplegia type 2
gene_symbol: CD55
disease_id: OMIM:226300
disease_name: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
gene_symbol: KCNJ5
disease_id: OMIM:613485
disease_name: LONG QT SYNDROME 13
gene_symbol: F8
disease_id: OMIM:301071
disease_name: THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT
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: MEFV
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