TaoMedAI/RareMedData huggingface dataset:
Gene: PITX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CATARACT 11, MULTIPLE TYPES (OMIM:610623)
Gene: PITX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 11, MULTIPLE TYPES (OMIM:610623)
Gene: PITX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 1 (OMIM:107250)
Gene: PITX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 11, MULTIPLE TYPES (OMIM:610623)
Gene: PITX3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CATARACT 11, MULTIPLE TYPES (OMIM:610623)
Gene: PITX3
Phenotype: Chorea (HP:0002072)
Associated disease: CATARACT 11, MULTIPLE TYPES (OMIM:610623)
Gene: PITX3
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 11, MULTIPLE TYPES (OMIM:610623)
Gene: PITX3
Phenotype: Blindness (HP:0000618)
Associated disease: CATARACT 11, MULTIPLE TYPES (OMIM:610623)
Gene: PITX3
Phenotype: Peters anomaly (HP:0000659)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 1 (OMIM:107250)
Gene: PITX3
Phenotype: Ocular anterior segment dysgenesis (HP:0007700)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 1 (OMIM:107250)
Gene: PITX3
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 1 (OMIM:107250)
Gene: PITX3
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 1 (OMIM:107250)
Gene: PITX3
Phenotype: Microcornea (HP:0000482)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 1 (OMIM:107250)
Gene: PITX3
Phenotype: Cataract (HP:0000518)
Associated disease: CATARACT 11, MULTIPLE TYPES (OMIM:610623)
Gene: PITX3
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 11, MULTIPLE TYPES (OMIM:610623)
Gene: PITX3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CATARACT 11, MULTIPLE TYPES (OMIM:610623)
Gene: PKD1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:173900)
Gene: PKD1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:173900)
Gene: PKD1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:173900)
Gene: PKD1
Phenotype: Renal cyst (HP:0000107)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:173900)
Gene: PKD1
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:173900)
Gene: PKD1
Phenotype: Cerebral berry aneurysm (HP:0007029)
Associated disease: POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:173900)
Gene: PKD1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Hematuria (HP:0000790)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Hypertension (HP:0000822)
Associated disease: POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:173900)
Gene: PKD1
Phenotype: Hypertension (HP:0000822)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Abnormal systemic arterial morphology (HP:0011004)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:173900)
Gene: PKD1
Phenotype: Flank pain (HP:0030157)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:173900)
Gene: PKD1
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Abnormal urinary electrolyte concentration (HP:0012591)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD1
Phenotype: Albuminuria (HP:0012592)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Renal cyst (HP:0000107)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Middle age onset (HP:0003596)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Progressive (HP:0003676)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Young adult onset (HP:0011462)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Hematuria (HP:0000790)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Hypertension (HP:0000822)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Hypertension (HP:0000822)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Jaundice (HP:0000952)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Abnormal systemic arterial morphology (HP:0011004)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Dextrocardia (HP:0001651)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Gene: PKD2
Phenotype: Flank pain (HP:0030157)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Abnormal urinary electrolyte concentration (HP:0012591)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKD2
Phenotype: Albuminuria (HP:0012592)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: PKLR
Phenotype: Reduced red cell pyruvate kinase level (HP:0025109)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Reduced red cell pyruvate kinase level (HP:0025109)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES (OMIM:102900)
Gene: PKLR
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Congenital onset (HP:0003577)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Chronic hemolytic anemia (HP:0004870)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Chronic hemolytic anemia (HP:0004870)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Decreased hemoglobin concentration (HP:0020062)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Congenital hemolytic anemia (HP:0004804)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Cholecystitis (HP:0001082)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Anemia (HP:0001903)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Polycythemia (HP:0001901)
Associated disease: ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES (OMIM:102900)
Gene: PKLR
Phenotype: Childhood onset (HP:0011463)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Pallor (HP:0000980)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Jaundice (HP:0000952)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Reduced erythrocyte 2,3-diphosphoglycerate concentration (HP:0030271)
Associated disease: ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES (OMIM:102900)
Gene: PKLR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Gene: PKLR
Phenotype: Anisocytosis (HP:0011273)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKLR
Phenotype: Abnormal erythrocyte morphology (HP:0001877)
Associated disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Gene: PKHD1
Phenotype: Chills (HP:0025143)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Multiple small medullary renal cysts (HP:0008659)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Neonatal death (HP:0003811)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Cholestasis (HP:0001396)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Cholestasis (HP:0001396)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Hypoventilation (HP:0002791)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Abdominal rigidity (HP:0032545)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Renal cyst (HP:0000107)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Caroli disease (ORPHA:53035)