TaoMedAI/RareMedData huggingface dataset:
Gene: HLA-DRB1
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Hypertensive crisis (HP:0100735)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Chest pain (HP:0100749)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Chest pain (HP:0100749)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Chest pain (HP:0100749)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Poliosis (HP:0002290)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Gangrene (HP:0100758)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Aphasia (HP:0002381)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HLA-DRB1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Vitiligo (HP:0001045)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Lymphedema (HP:0001004)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Urticaria (HP:0001025)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Foam cells (HP:0003651)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Vertigo (HP:0002321)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Vertigo (HP:0002321)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Headache (HP:0002315)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Headache (HP:0002315)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Skin nodule (HP:0200036)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Skin nodule (HP:0200036)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Skin plaque (HP:0200035)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Iridocyclitis (HP:0001094)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Iridocyclitis (HP:0001094)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Retinal nerve fiber edema (HP:0020120)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Erythema (HP:0010783)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Scarring (HP:0100699)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Incoordination (HP:0002311)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DRB1
Phenotype: Drooling (HP:0002307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Non-infectious meningitis (HP:0033430)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Anti-BP180 antibody positivity (HP:4000020)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Anti-BP230 antibody positivity (HP:4000019)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Hypnopompic hallucination (HP:0006896)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Diplopia (HP:0000651)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Diplopia (HP:0000651)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DRB1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Blindness (HP:0000618)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Photophobia (HP:0000613)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Photophobia (HP:0000613)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Fever (HP:0001945)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Fever (HP:0001945)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Fever (HP:0001945)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Fever (HP:0001945)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Fever (HP:0001945)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Fever (HP:0001945)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Fever (HP:0001945)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Dacryocystitis (HP:0000620)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Blurred vision (HP:0000622)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Blurred vision (HP:0000622)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Anemia (HP:0001903)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Anemia (HP:0001903)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Short stature (HP:0004322)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Juvenile rheumatoid arthritis (HP:0005681)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Cough (HP:0012735)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Cough (HP:0012735)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Cough (HP:0012735)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Cough (HP:0012735)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Macule (HP:0012733)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Heart block (HP:0012722)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HLA-DRB1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Anxiety (HP:0000739)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Depression (HP:0000716)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Depression (HP:0000716)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Depression (HP:0000716)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DRB1
Phenotype: Emotional lability (HP:0000712)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DRB1
Phenotype: Restlessness (HP:0000711)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Psychosis (HP:0000709)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HLA-DRB1
Phenotype: Posterior synechiae of the anterior chamber (HP:0011484)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Hematuria (HP:0000790)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Abnormality of the adrenal glands (HP:0000834)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Hypertension (HP:0000822)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Chorioretinal hypopigmentation (HP:0040030)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Abnormal salivary gland morphology (HP:0010286)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Abnormal cardiac ventricular function (HP:0030872)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Crackles (HP:0030830)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
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: HLA-DRB1
Phenotype: Chylothorax (HP:0010310)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Pruritus (HP:0000989)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Skin rash (HP:0000988)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Cyanosis (HP:0000961)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Alopecia (HP:0001596)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Alopecia (HP:0001596)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Alopecia (HP:0001596)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Abnormal reproductive system morphology (HP:0012243)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Abdominal aortic aneurysm (HP:0005112)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Enlarged lacrimal glands (HP:0007734)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Enlarged lacrimal glands (HP:0007734)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: HLA-DRB1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Xerostomia (HP:0000217)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)