TaoMedAI/RareMedData huggingface dataset:
Gene: HLA-DQB1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Decreased circulating prealbumin concentration (HP:0031085)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: HLA-DQB1
Phenotype: Hypnagogic hallucination (HP:0002519)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Cataplexy (HP:0002524)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DQB1
Phenotype: Slurred speech (HP:0001350)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Urinary hesitancy (HP:0000019)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DQB1
Phenotype: Nocturia (HP:0000017)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DQB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Lymphoma (HP:0002665)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Myoclonus (HP:0001336)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Celiac disease (HP:0002608)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Abnormal pupillary function (HP:0007686)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DQB1
Phenotype: Rickets (HP:0002748)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: HLA-DQB1
Phenotype: Constipation (HP:0002019)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Diarrhea (HP:0002014)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: HLA-DQB1
Phenotype: Vomiting (HP:0002013)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Migraine (HP:0002076)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Decreased circulating vitamin B12 concentration (HP:0100502)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Reduced blood folate concentration (HP:0100507)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Elevated circulating D-dimer concentration (HP:0033106)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: HLA-DQB1
Phenotype: Decreased circulating vitamin K concentration (HP:0011892)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Paresthesia (HP:0003401)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DQB1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Adult onset (HP:0003581)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DQB1
Phenotype: Insomnia (HP:0100785)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HLA-DQB1
Phenotype: Chest pain (HP:0100749)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: HLA-DQB1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Extrapyramidal muscular rigidity (HP:0007076)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Aphasia (HP:0002381)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HLA-DQB1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Urticaria (HP:0001025)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Memory impairment (HP:0002354)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Thyroiditis (HP:0100646)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Erythema (HP:0010783)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Incoordination (HP:0002311)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DQB1
Phenotype: Drooling (HP:0002307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Abnormality of the abdominal wall (HP:0004298)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Anti-BP180 antibody positivity (HP:4000020)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Anti-BP230 antibody positivity (HP:4000019)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Hypnopompic hallucination (HP:0006896)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Diplopia (HP:0000651)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DQB1
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Short stature (HP:0004322)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Malnutrition (HP:0004395)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: HLA-DQB1
Phenotype: Personality changes (HP:0000751)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Cough (HP:0012735)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: HLA-DQB1
Phenotype: Macule (HP:0012733)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HLA-DQB1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Hallucinations (HP:0000738)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Irritability (HP:0000737)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Anxiety (HP:0000739)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Anxiety (HP:0000739)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Anxiety (HP:0000739)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Delusion (HP:0000746)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Apathy (HP:0000741)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Depression (HP:0000716)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Depression (HP:0000716)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Depression (HP:0000716)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Depression (HP:0000716)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DQB1
Phenotype: Emotional lability (HP:0000712)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DQB1
Phenotype: Restlessness (HP:0000711)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Dementia (HP:0000726)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Psychosis (HP:0000709)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HLA-DQB1
Phenotype: Infertility (HP:0000789)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Hypertension (HP:0000822)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Stomatitis (HP:0010280)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Wheezing (HP:0030828)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: HLA-DQB1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Pruritus (HP:0000989)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Alopecia (HP:0001596)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Arthralgia (HP:0002829)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Obesity (HP:0001513)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Bronchitis (HP:0012387)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: HLA-DQB1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Loss of facial expression (HP:0005327)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Restless legs (HP:0012452)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DQB1
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Weight loss (HP:0001824)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DQB1
Phenotype: Weight loss (HP:0001824)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: HLA-DQB1
Phenotype: Weight loss (HP:0001824)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Visual impairment (HP:0000505)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: HLA-DQB1
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DQB1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Gene: HLA-DRA
Phenotype: Perifollicular hyperkeratosis (HP:0007468)
Associated disease: Graham Little-Piccardi-Lassueur syndrome; Graham Little syndrome; Piccardi-Lassueur-Little syndrome (ORPHA:505)
Gene: HLA-DRA
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: Graham Little-Piccardi-Lassueur syndrome; Graham Little syndrome; Piccardi-Lassueur-Little syndrome (ORPHA:505)
Gene: HLA-DRA
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: Graham Little-Piccardi-Lassueur syndrome; Graham Little syndrome; Piccardi-Lassueur-Little syndrome (ORPHA:505)
Gene: HLA-DRA
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Graham Little-Piccardi-Lassueur syndrome; Graham Little syndrome; Piccardi-Lassueur-Little syndrome (ORPHA:505)
Gene: HLA-DRA
Phenotype: Lichenification (HP:0100725)
Associated disease: Graham Little-Piccardi-Lassueur syndrome; Graham Little syndrome; Piccardi-Lassueur-Little syndrome (ORPHA:505)
Gene: HLA-DRA
Phenotype: Pruritus (HP:0000989)
Associated disease: Graham Little-Piccardi-Lassueur syndrome; Graham Little syndrome; Piccardi-Lassueur-Little syndrome (ORPHA:505)
Gene: HLA-DRA
Phenotype: Alopecia (HP:0001596)
Associated disease: Graham Little-Piccardi-Lassueur syndrome; Graham Little syndrome; Piccardi-Lassueur-Little syndrome (ORPHA:505)
Gene: HLA-DRB1
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Elevated circulating calprotectin concentration (HP:6000502)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Narrow foramen obturatorium (HP:0100958)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: HLA-DRB1
Phenotype: Narrow foramen obturatorium (HP:0100958)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: HLA-DRB1
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Bullous pemphigoid (ORPHA:703)
Gene: HLA-DRB1
Phenotype: Visual field defect (HP:0001123)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: CNS demyelination (HP:0007305)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DRB1
Phenotype: Epiphora (HP:0009926)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Epiphora (HP:0009926)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Abnormal circulating protein concentration (HP:0010876)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Sporadic (HP:0003745)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)
Gene: HLA-DRB1
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Scalp tenderness (HP:0100809)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: HLA-DRB1
Phenotype: Scalp tenderness (HP:0100809)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Increased total T cell count (HP:0100828)
Associated disease: Besnier-Boeck-Schaumann disease; Sarcoidosis; Boeck sarcoid (ORPHA:797)
Gene: HLA-DRB1
Phenotype: Meningitis (HP:0001287)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Meningitis (HP:0001287)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Sleep paralysis (HP:0025233)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Syncope (HP:0001279)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Abnormal peritoneum morphology (HP:0002585)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HLA-DRB1
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Ataxia (HP:0001251)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-DRB1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HLA-DRB1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HLA-DRB1
Phenotype: Spasticity (HP:0001257)
Associated disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Gene: HLA-DRB1
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HLA-DRB1
Phenotype: Clubbing (HP:0001217)
Associated disease: aPAP; Autoimmune pulmonary alveolar proteinosis; Autoimmune PAP (ORPHA:747)
Gene: HLA-DRB1
Phenotype: Clubbing (HP:0001217)
Associated disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 1 (OMIM:181000)