TaoMedAI/RareMedData huggingface dataset:
Gene: GP1BB
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: GP1BB
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Seizure (HP:0001250)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Partially duplicated kidney (HP:0008738)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Abnormal megakaryocyte morphology (HP:0012143)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Menorrhagia (HP:0000132)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Menorrhagia (HP:0000132)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Asthma (HP:0002099)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Migraine (HP:0002076)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Decreased platelet glycoprotein Ib-IX-V (HP:0011879)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Congenital onset (HP:0003577)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Hematemesis (HP:0002248)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Giant platelets (HP:0001902)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Giant platelets (HP:0001902)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Purpura (HP:0000979)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Petechiae (HP:0000967)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Epistaxis (HP:0000421)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Giant platelet syndrome; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy (ORPHA:274)
Gene: GP9
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GP9
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BERNARD-SOULIER SYNDROME (OMIM:231200)
Gene: GPD1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Gene: GPD1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Gene: GPD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Gene: GPD1
Phenotype: Vomiting (HP:0002013)
Associated disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Gene: GPD1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Gene: GPD1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Gene: GPD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Gene: GPD1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Gene: GPD1
Phenotype: Short stature (HP:0004322)
Associated disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Gene: GPD1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Gene: GPD1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Gene: GPD1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Gene: GPD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: GPD2
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: GPD2
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: GPD2
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: GPD2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: GPI
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Ataxia (HP:0001251)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Decreased glucosephosphate isomerase level (HP:0003568)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Decreased glucosephosphate isomerase level (HP:0003568)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Impaired neutrophil bactericidal activity (HP:0011993)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Pigment gallstones (HP:0011981)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Pigment gallstones (HP:0011981)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Cholecystitis (HP:0001082)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Cholecystitis (HP:0001082)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Spontaneous hemolytic crises (HP:0005525)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Nonspherocytic hemolytic anemia (HP:0001930)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Nonspherocytic hemolytic anemia (HP:0001930)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Jaundice (HP:0000952)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Jaundice (HP:0000952)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPI
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Gene: GPI
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Gene: GPR35
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Palmar telangiectasia (HP:0100869)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Cholestasis (HP:0001396)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Celiac disease (HP:0002608)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Hepatitis (HP:0012115)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Neoplasm of the gallbladder (HP:0100575)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Adenocarcinoma of the large intestine (HP:0040275)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Polyclonal elevation of IgM (HP:0003459)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Decreased circulating vitamin K concentration (HP:0011892)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Histiocytosis (HP:0100727)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Elevated alkaline phosphatase of hepatic origin (HP:0010638)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Chronic hepatic failure (HP:0100626)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Fever (HP:0001945)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Abnormal large intestine physiology (HP:0012700)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Depression (HP:0000716)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Jaundice (HP:0000952)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Osteopenia (HP:0000938)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Ascites (HP:0001541)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Fatigue (HP:0012378)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Amyloidosis (HP:0011034)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Cholangiocarcinoma (HP:0030153)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Dilated superficial abdominal veins (HP:0030168)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Abnormal biliary tract morphology (HP:0012440)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Recurrent systemic pyogenic infections (HP:0005429)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Weight loss (HP:0001824)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Uveitis (HP:0000554)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Spider hemangioma (HP:0012522)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPR35
Phenotype: Abnormal eosinophil morphology (HP:0001879)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: GPX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUTATHIONE PEROXIDASE DEFICIENCY (OMIM:614164)
Gene: GPX1
Phenotype: Compensated hemolytic anemia (HP:0004863)
Associated disease: GLUTATHIONE PEROXIDASE DEFICIENCY (OMIM:614164)
Gene: GPX1
Phenotype: Heinz bodies (HP:0020082)
Associated disease: GLUTATHIONE PEROXIDASE DEFICIENCY (OMIM:614164)
Gene: GPX1
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: GLUTATHIONE PEROXIDASE DEFICIENCY (OMIM:614164)
Gene: GPX4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Cone-shaped metacarpal epiphyses (HP:0006059)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Widened greater sciatic notch (HP:0008798)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Iliac crest serration (HP:0008786)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Iliac crest serration (HP:0008786)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Spondylometaphyseal dysplasia (HP:0002657)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Spondylometaphyseal dysplasia (HP:0002657)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Pachygyria (HP:0001302)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)