TaoMedAI/RareMedData huggingface dataset:
Gene: PTPN22
Phenotype: Interphalangeal joint erosions (HP:0006252)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Nephritis (HP:0000123)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Polyuria (HP:0000103)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: PTPN22
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Nonproductive cough (HP:0031246)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Nausea (HP:0002018)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Myalgia (HP:0003326)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Myalgia (HP:0003326)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Myalgia (HP:0003326)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Scleritis (HP:0100532)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Conjunctival hyperemia (HP:0030953)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Anorexia (HP:0002039)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Elevated circulating osteopontin level (HP:0033123)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Pleuritis (HP:0002102)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Pleuritis (HP:0002102)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Abnormal metacarpophalangeal joint morphology (HP:0011911)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Hyperfibrinogenemia (HP:0011899)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Paresthesia (HP:0003401)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Synovitis (HP:0100769)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Recurrent pharyngitis (HP:0100776)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Chest pain (HP:0100749)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Poliosis (HP:0002290)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Gangrene (HP:0100758)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Gangrene (HP:0100758)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Aphasia (HP:0002381)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Vitiligo (HP:0001045)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Vertigo (HP:0002321)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Vertigo (HP:0002321)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Headache (HP:0002315)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Headache (HP:0002315)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Headache (HP:0002315)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Papule (HP:0200034)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Iridocyclitis (HP:0001094)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Iridocyclitis (HP:0001094)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Retinal nerve fiber edema (HP:0020120)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Enthesitis (HP:0100686)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Abnormality of the temporomandibular joint (HP:0010754)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Nystagmus (HP:0000639)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Diplopia (HP:0000651)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Photophobia (HP:0000613)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Fever (HP:0001945)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Fever (HP:0001945)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Fever (HP:0001945)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Fever (HP:0001945)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Polydipsia (HP:0001959)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: PTPN22
Phenotype: Blurred vision (HP:0000622)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Anemia (HP:0001903)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Anemia (HP:0001903)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: PTPN22
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Short stature (HP:0004322)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: PTPN22
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Abnormal shoulder morphology (HP:0003043)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: PTPN22
Phenotype: Cough (HP:0012735)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Cough (HP:0012735)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Depression (HP:0000716)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Anti-neutrophil elastase antibody positivity (HP:0034104)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Psychosis (HP:0000709)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Posterior synechiae of the anterior chamber (HP:0011484)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Hematuria (HP:0000790)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Hematuria (HP:0000790)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: PTPN22
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Hypertension (HP:0000822)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Chorioretinal hypopigmentation (HP:0040030)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis (HP:0011658)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Purpura (HP:0000979)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Skin rash (HP:0000988)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Anti-citrullinated protein antibody positivity (HP:0033034)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Digital flexor tenosynovitis (HP:0012276)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Alopecia (HP:0001596)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Alopecia (HP:0001596)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)