TaoMedAI/RareMedData huggingface dataset:
Gene: SPI1
Phenotype: Sepsis (HP:0100806)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Meningitis (HP:0001287)
Associated disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)
Gene: SPI1
Phenotype: Meningitis (HP:0001287)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Arthritis (HP:0001369)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)
Gene: SPI1
Phenotype: Hepatitis (HP:0012115)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)
Gene: SPI1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Congenital onset (HP:0003577)
Associated disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)
Gene: SPI1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)
Gene: SPI1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)
Gene: SPI1
Phenotype: Cellulitis (HP:0100658)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Verrucae (HP:0200043)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Dehydration (HP:0001944)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Fever (HP:0001945)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)
Gene: SPI1
Phenotype: Cough (HP:0012735)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)
Gene: SPI1
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Skin rash (HP:0000988)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Sinusitis (HP:0000246)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: High palate (HP:0000218)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)
Gene: SPI1
Phenotype: Fatigue (HP:0012378)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)
Gene: SPI1
Phenotype: Absent circulating B cells (HP:0030252)
Associated disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)
Gene: SPI1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPI1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: SPIB
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Xanthelasma (HP:0001114)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Celiac disease (HP:0002608)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Hepatitis (HP:0012115)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Jaundice (HP:0000952)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Onychomycosis (HP:0012203)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Ascites (HP:0001541)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Fatigue (HP:0012378)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Abnormal intrahepatic bile duct morphology (HP:0011040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Antimitochondrial antibody positivity (HP:0030167)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPIB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: SPINK1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: SPINK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TROPICAL CALCIFIC PANCREATITIS (OMIM:608189)
Gene: SPINK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: SPINK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TROPICAL CALCIFIC PANCREATITIS (OMIM:608189)
Gene: SPINK1
Phenotype: Epigastric pain (HP:0410019)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: SPINK1
Phenotype: Chronic pancreatitis (HP:0006280)
Associated disease: TROPICAL CALCIFIC PANCREATITIS (OMIM:608189)
Gene: SPINK1
Phenotype: Nausea (HP:0002018)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: SPINK1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: SPINK1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: TROPICAL CALCIFIC PANCREATITIS (OMIM:608189)
Gene: SPINK1
Phenotype: Abnormal pancreatic duct morphology (HP:0030992)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: SPINK1
Phenotype: Vomiting (HP:0002013)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: SPINK1
Phenotype: Insulin-dependent but ketosis-resistant diabetes (HP:0008205)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: SPINK1
Phenotype: Insulin-dependent but ketosis-resistant diabetes (HP:0008205)
Associated disease: TROPICAL CALCIFIC PANCREATITIS (OMIM:608189)
Gene: SPINK1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: SPINK1
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: SPINK1
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: SPINK1
Phenotype: Fever (HP:0001945)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: SPINK1
Phenotype: Malnutrition (HP:0004395)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: SPINK1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: SPINK1
Phenotype: Jaundice (HP:0000952)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: SPINK1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: TROPICAL CALCIFIC PANCREATITIS (OMIM:608189)
Gene: SPINK1
Phenotype: Chronic calcifying pancreatitis (HP:0005236)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: SPINK1
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: SPINK1
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: TROPICAL CALCIFIC PANCREATITIS (OMIM:608189)
Gene: SPINK1
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: SPINK1
Phenotype: Pancreatic pseudocyst (HP:0005206)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: SPINK1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: SPINK1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: SPINK1
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: SPINK1
Phenotype: Weight loss (HP:0001824)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: SPINK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 29 (OMIM:618091)
Gene: SPINK2
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 29 (OMIM:618091)
Gene: SPINK2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 29 (OMIM:618091)
Gene: SPINK2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 29 (OMIM:618091)
Gene: SPINK2
Phenotype: Immotile sperm (HP:0012208)
Associated disease: SPERMATOGENIC FAILURE 29 (OMIM:618091)
Gene: SPP2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPP1
Phenotype: Language impairment (HP:0002463)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Seizure (HP:0001250)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Proteinuria (HP:0000093)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Lupus anticoagulant (HP:0025343)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Arthritis (HP:0001369)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Malar rash (HP:0025300)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Nephritis (HP:0000123)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Dark urine (HP:0040319)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Diarrhea (HP:0002014)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Vomiting (HP:0002013)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Dyspnea (HP:0002094)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)