TaoMedAI/RareMedData huggingface dataset:
Gene: HLA-DRB1
Phenotype: Hypnagogic hallucination (HP:0002519)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Cataplexy (HP:0002524)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Dalen Fuchs nodules (HP:6000710)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Bone cyst (HP:0012062)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Bone cyst (HP:0012062)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Corneal keratic precipitates (HP:0025341)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Arthritis (HP:0001369)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Arthritis (HP:0001369)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Arthritis (HP:0001369)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Arthritis (HP:0001369)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Arthritis (HP:0001369)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Joint swelling (HP:0001386)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Joint swelling (HP:0001386)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DRB1
Phenotype: Slurred speech (HP:0001350)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Mediastinal mass (HP:0033823)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Urinary hesitancy (HP:0000019)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DRB1
Phenotype: Nocturia (HP:0000017)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Malaise (HP:0033834)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Crazy paving pattern (HP:0025391)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Nuchal rigidity (HP:0031179)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DRB1
Phenotype: Lymphoma (HP:0002665)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Vasculitis (HP:0002633)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Anterior uveitis (HP:0012122)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Abnormal pupillary function (HP:0007686)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Generalized lymphadenopathy (HP:0008940)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DRB1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Abnormal lymph node morphology (HP:0002733)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Nonproductive cough (HP:0031246)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Nausea (HP:0002018)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Constipation (HP:0002019)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Myalgia (HP:0003326)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Enlargement of parotid gland (HP:0011801)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Abnormality of the upper respiratory tract (HP:0002087)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Abnormal lung morphology (HP:0002088)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Emphysema (HP:0002097)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Emphysema (HP:0002097)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Dyspnea (HP:0002094)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Dyspnea (HP:0002094)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Migraine (HP:0002076)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Conjunctival hyperemia (HP:0030953)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Hypothermia (HP:0002045)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Anorexia (HP:0002039)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Anorexia (HP:0002039)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Oliguria (HP:0100520)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Elevated circulating D-dimer concentration (HP:0033106)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Elevated circulating osteopontin level (HP:0033123)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Hyperfibrinogenemia (HP:0011899)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Parotitis (HP:0011850)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Paresthesia (HP:0003401)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DRB1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Adult onset (HP:0003581)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Adult onset (HP:0003581)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DRB1
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Recurrent pharyngitis (HP:0100776)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Insomnia (HP:0100785)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HLA-DRB1
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)