TaoMedAI/RareMedData huggingface dataset:
Gene: C1S
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Atrophic scars (HP:0001075)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1S
Phenotype: Microdontia (HP:0000691)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1S
Phenotype: Short stature (HP:0004322)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1S
Phenotype: Colon cancer (HP:0003003)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Periodontitis (HP:0000704)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1S
Phenotype: Periodontitis (HP:0000704)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: COMPLEMENT COMPONENT C1s DEFICIENCY (OMIM:613783)
Gene: C1S
Phenotype: Gingival recession (HP:0030816)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1S
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Arthralgia (HP:0002829)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1S
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Micrognathia (HP:0000347)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1S
Phenotype: Abnormality of complement system (HP:0005339)
Associated disease: COMPLEMENT COMPONENT C1s DEFICIENCY (OMIM:613783)
Gene: C2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
Gene: C2
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: COMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
Gene: C2
Phenotype: Purpura (HP:0000979)
Associated disease: COMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
Gene: C3
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Gene: C3
Phenotype: Proteinuria (HP:0000093)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Gene: C3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Gene: C3
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Gene: C3
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Gene: C3
Phenotype: Anuria (HP:0100519)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Infantile onset (HP:0003593)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Gene: C3
Phenotype: Adult onset (HP:0003581)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Recurrent fever (HP:0001954)
Associated disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Gene: C3
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Childhood onset (HP:0011463)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Childhood onset (HP:0011463)
Associated disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Gene: C3
Phenotype: Membranoproliferative glomerulonephritis (HP:0000793)
Associated disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Gene: C3
Phenotype: Hematuria (HP:0000790)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Hypertension (HP:0000822)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Gene: C3
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Gene: C3
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Gene: C3
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Gene: C4A
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Meningitis (HP:0001287)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Confusion (HP:0001289)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Seizure (HP:0001250)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Ataxia (HP:0001251)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: COMPLEMENT COMPONENT 4A DEFICIENCY (OMIM:614380)
Gene: C4A
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Arthritis (HP:0001369)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Epididymitis (HP:0000031)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT COMPONENT 4A DEFICIENCY (OMIM:614380)
Gene: C4A
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Vasculitis (HP:0002633)
Associated disease: COMPLEMENT COMPONENT 4A DEFICIENCY (OMIM:614380)
Gene: C4A
Phenotype: Vasculitis (HP:0002633)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Reduced circulating CH50 activity (HP:0025434)
Associated disease: COMPLEMENT COMPONENT 4A DEFICIENCY (OMIM:614380)
Gene: C4A
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Panuveitis (HP:0012121)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: COMPLEMENT COMPONENT 4A DEFICIENCY (OMIM:614380)
Gene: C4A
Phenotype: Malabsorption (HP:0002024)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Myalgia (HP:0003326)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Diarrhea (HP:0002014)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Migraine (HP:0002076)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Anorexia (HP:0002039)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Endocarditis (HP:0100584)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Pleuritis (HP:0002102)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Paresthesia (HP:0003401)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Orchitis (HP:0100796)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Gangrene (HP:0100758)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Acne (HP:0001061)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Vertigo (HP:0002321)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Headache (HP:0002315)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Optic neuritis (HP:0100653)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Retrobulbar optic neuritis (HP:0100654)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Papule (HP:0200034)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Myositis (HP:0100614)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Pustule (HP:0200039)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Non-infectious meningitis (HP:0033430)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: AA amyloidosis (HP:4000041)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Blindness (HP:0000618)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Photophobia (HP:0000613)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Fever (HP:0001945)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Irritability (HP:0000737)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Immunologic hypersensitivity (HP:0100326)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Myocarditis (HP:0012819)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: COMPLEMENT COMPONENT 4A DEFICIENCY (OMIM:614380)
Gene: C4A
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Genital ulcers (HP:0003249)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Purpura (HP:0000979)
Associated disease: COMPLEMENT COMPONENT 4A DEFICIENCY (OMIM:614380)
Gene: C4A
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: COMPLEMENT COMPONENT 4A DEFICIENCY (OMIM:614380)
Gene: C4A
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Arthralgia (HP:0002829)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Positive pathergy test (HP:0025532)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Nongranulomatous uveitis (HP:0007813)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Fatigue (HP:0012378)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Pericarditis (HP:0001701)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Retinopathy (HP:0000488)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Cataract (HP:0000518)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Weight loss (HP:0001824)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Behçet disease (ORPHA:117)
Gene: C4A
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4A
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: C4B
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)