TaoMedAI/RareMedData huggingface dataset:
Gene: IL12A
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Paresthesia (HP:0003401)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Orchitis (HP:0100796)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Gangrene (HP:0100758)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Acne (HP:0001061)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Vertigo (HP:0002321)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Headache (HP:0002315)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Optic neuritis (HP:0100653)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Retrobulbar optic neuritis (HP:0100654)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Papule (HP:0200034)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Myositis (HP:0100614)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Pustule (HP:0200039)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Non-infectious meningitis (HP:0033430)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: AA amyloidosis (HP:4000041)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Blindness (HP:0000618)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Photophobia (HP:0000613)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Fever (HP:0001945)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Irritability (HP:0000737)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Immunologic hypersensitivity (HP:0100326)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Myocarditis (HP:0012819)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Genital ulcers (HP:0003249)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Jaundice (HP:0000952)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Arthralgia (HP:0002829)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Positive pathergy test (HP:0025532)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Onychomycosis (HP:0012203)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Ascites (HP:0001541)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Nongranulomatous uveitis (HP:0007813)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Fatigue (HP:0012378)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Fatigue (HP:0012378)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Abnormal intrahepatic bile duct morphology (HP:0011040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Antimitochondrial antibody positivity (HP:0030167)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Pericarditis (HP:0001701)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Retinopathy (HP:0000488)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12A
Phenotype: Cataract (HP:0000518)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Weight loss (HP:0001824)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12A
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL12B
Phenotype: Stroke (HP:0001297)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Seizure (HP:0001250)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Arthritis (HP:0001369)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Malaise (HP:0033834)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Arteritis (HP:0012089)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 29 (OMIM:614890)
Gene: IL12B
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Vasculitis (HP:0002633)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Absent pulse (HP:0032554)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Carotidynia (HP:6000944)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Asymmetric blood pressure between arms (HP:6000945)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 29 (OMIM:614890)
Gene: IL12B
Phenotype: Myalgia (HP:0003326)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Dyspnea (HP:0002094)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Migraine (HP:0002076)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Anorexia (HP:0002039)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 29 (OMIM:614890)
Gene: IL12B
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Hypertensive crisis (HP:0100735)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Chest pain (HP:0100749)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Gangrene (HP:0100758)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: BCGitis (HP:0020086)
Associated disease: IMMUNODEFICIENCY 29 (OMIM:614890)
Gene: IL12B
Phenotype: Vertigo (HP:0002321)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Headache (HP:0002315)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Blood pressure substantially higher in legs than arms (HP:0020141)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Fever (HP:0001945)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Anemia (HP:0001903)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Intermittent claudication (HP:0004417)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Hypertension (HP:0000822)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Arthralgia (HP:0002829)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Fatigue (HP:0012378)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Gastrointestinal infarctions (HP:0005244)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Night sweats (HP:0030166)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Retinopathy (HP:0000488)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Weight loss (HP:0001824)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Visual impairment (HP:0000505)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12B
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: IL12RB1
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Xanthelasma (HP:0001114)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Coccidioidomycosis (HP:0032249)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Histoplasmosis (HP:0032256)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Disseminated nontuberculous mycobacterial infection (HP:0032283)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Tegumentary leishmaniasis susceptibility (HP:0007408)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 30 (OMIM:614891)
Gene: IL12RB1
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Celiac disease (HP:0002608)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Hepatitis (HP:0012115)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Recurrent Klebsiella infections (HP:0002742)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 30 (OMIM:614891)
Gene: IL12RB1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 30 (OMIM:614891)
Gene: IL12RB1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: BCGosis (HP:0020087)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Vasculitis in the skin (HP:0200029)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Severe toxoplasmosis (HP:0020105)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Salmonella osteomyelitis (HP:0005661)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)