TaoMedAI/RareMedData huggingface dataset:
Gene: CTLA4
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Increased CD4:CD8 ratio (HP:0033221)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Abnormal circulating immunoglobulin concentration (HP:0010701)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Lichenification (HP:0100725)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Chest pain (HP:0100749)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Gangrene (HP:0100758)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Gangrene (HP:0100758)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Erythroderma (HP:0001019)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Erythroderma (HP:0001019)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Headache (HP:0002315)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Optic neuritis (HP:0100653)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Skin plaque (HP:0200035)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Papule (HP:0200034)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Erythema (HP:0010783)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Fever (HP:0001945)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Fever (HP:0001945)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Ectropion (HP:0000656)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Cough (HP:0012735)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Anti-neutrophil elastase antibody positivity (HP:0034104)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Psychosis (HP:0000709)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Hematuria (HP:0000790)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: HASHIMOTO THYROIDITIS (OMIM:140300)
Gene: CTLA4
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Hypertension (HP:0000822)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Purpura (HP:0000979)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Crohn's disease (HP:0100280)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Crohn's disease (HP:0100280)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Pruritus (HP:0000989)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Pruritus (HP:0000989)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Skin rash (HP:0000988)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Skin rash (HP:0000988)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Dry skin (HP:0000958)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Dry skin (HP:0000958)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Edema (HP:0000969)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Edema (HP:0000969)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Alopecia (HP:0001596)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Alopecia (HP:0001596)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: HASHIMOTO THYROIDITIS (OMIM:140300)
Gene: CTLA4
Phenotype: Arthralgia (HP:0002829)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Sinusitis (HP:0000246)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Abnormal T cell morphology (HP:0002843)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Growth delay (HP:0001510)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Allergy (HP:0012393)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Fatigue (HP:0012378)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Otitis media (HP:0000388)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Recurrent intrapulmonary hemorrhage (HP:0006535)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Granulomatosis (HP:0002955)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Night sweats (HP:0030166)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Pericarditis (HP:0001701)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Pericarditis (HP:0001701)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Keratitis (HP:0000491)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Retinopathy (HP:0000488)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Pure red cell aplasia (HP:0012410)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Epistaxis (HP:0000421)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Proptosis (HP:0000520)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Weight loss (HP:0001824)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Weight loss (HP:0001824)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTNNA1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)