TaoMedAI/RareMedData huggingface dataset:
Gene: HK1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Gene: HK1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Gene: HK1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Dysphonia (HP:0001618)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Gene: HK1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Astigmatism (HP:0000483)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Torticollis (HP:0000473)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Pes planus (HP:0001763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Gene: HK1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Pes cavus (HP:0001761)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Flat occiput (HP:0005469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Ptosis (HP:0000508)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Gene: HK1
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Gene: HK1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Gene: HK1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HLA-A
Phenotype: Vitreous floaters (HP:0100832)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Macular scar (HP:0200056)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Arcuate scotoma (HP:0030530)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Photophobia (HP:0000613)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Blurred vision (HP:0000622)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Blind-spot enlargement (HP:0030644)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Photoreceptor layer loss on macular OCT (HP:0030609)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Vitritis (HP:0011531)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Macular hole (HP:0011508)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Cataract (HP:0000518)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Visual loss (HP:0000572)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Vitiliginous choroiditis; Birdshot retinochoroiditis; Birdshot chorioretinopathy; Birdshot retinochoroidopathy; Birdshot chorioretinitis (ORPHA:179)
Gene: HLA-B
Phenotype: Elevated circulating calprotectin concentration (HP:6000502)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 (OMIM:106300)
Gene: HLA-B
Phenotype: Visual field defect (HP:0001123)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Excessive salivation (HP:0003781)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Iritis (HP:0001101)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Stroke (HP:0001297)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Sepsis (HP:0100806)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Scalp tenderness (HP:0100809)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Meningitis (HP:0001287)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Meningitis (HP:0001287)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Confusion (HP:0001289)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Seizure (HP:0001250)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Seizure (HP:0001250)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Ataxia (HP:0001251)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Ataxia (HP:0001251)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Dysarthria (HP:0001260)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Arthritis (HP:0001369)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Arthritis (HP:0001369)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Arthritis (HP:0001369)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Arthritis (HP:0001369)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Joint swelling (HP:0001386)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Epididymitis (HP:0000031)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Malaise (HP:0033834)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Malaise (HP:0033834)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 (OMIM:106300)
Gene: HLA-B
Phenotype: Arteritis (HP:0012089)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Vasculitis (HP:0002633)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Vasculitis (HP:0002633)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Vasculitis (HP:0002633)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Panuveitis (HP:0012121)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Anterior uveitis (HP:0012122)
Associated disease: SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 (OMIM:106300)
Gene: HLA-B
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 (OMIM:106300)
Gene: HLA-B
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Absent pulse (HP:0032554)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Urethritis (HP:0500006)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Nonproductive cough (HP:0031246)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Carotidynia (HP:6000944)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Asymmetric blood pressure between arms (HP:6000945)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Malabsorption (HP:0002024)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 (OMIM:106300)
Gene: HLA-B
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 (OMIM:106300)
Gene: HLA-B
Phenotype: Myalgia (HP:0003326)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Myalgia (HP:0003326)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Myalgia (HP:0003326)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Diarrhea (HP:0002014)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Diarrhea (HP:0002014)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Diarrhea (HP:0002014)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Dysphagia (HP:0002015)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Dyspnea (HP:0002094)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Dyspnea (HP:0002094)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Migraine (HP:0002076)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Migraine (HP:0002076)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Anorexia (HP:0002039)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Anorexia (HP:0002039)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Anorexia (HP:0002039)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Dysuria (HP:0100518)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Balanitis (HP:0034438)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Elevated circulating osteopontin level (HP:0033123)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Endocarditis (HP:0100584)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Pleuritis (HP:0002102)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Low back pain (HP:0003419)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)
Gene: HLA-B
Phenotype: Back pain (HP:0003418)
Associated disease: SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 (OMIM:106300)
Gene: HLA-B
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: HLA-B
Phenotype: Hyperfibrinogenemia (HP:0011899)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Paresthesia (HP:0003401)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Paresthesia (HP:0003401)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: HLA-B
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Behçet disease (ORPHA:117)
Gene: HLA-B
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: HLA-B
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Fiessinger-Leroy disease; Reactive arthritis (ORPHA:29207)