TaoMedAI/RareMedData huggingface dataset:
Gene: PKHD1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Nausea (HP:0002018)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Vomiting (HP:0002013)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Potter facies (HP:0002009)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Liver abscess (HP:0100523)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Esophageal varix (HP:0002040)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Anorexia (HP:0002039)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Oliguria (HP:0100520)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Decreased circulating vitamin K concentration (HP:0011892)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Middle age onset (HP:0003596)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Hematemesis (HP:0002248)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Conjunctival icterus (HP:0032106)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Absence of renal corticomedullary differentiation (HP:0005564)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Hypersplenism (HP:0001971)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Dehydration (HP:0001944)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Fever (HP:0001945)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Polydipsia (HP:0001959)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Young adult onset (HP:0011462)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Hypertension (HP:0000822)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Hypertension (HP:0000822)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Abnormal circulating alpha-fetoprotein concentration (HP:0045056)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Pruritus (HP:0000989)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Jaundice (HP:0000952)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Jaundice (HP:0000952)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Ascites (HP:0001541)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Ascites (HP:0001541)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Growth delay (HP:0001510)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Abnormal intrahepatic bile duct morphology (HP:0011040)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Biliary hyperplasia (HP:0006560)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Cholangiocarcinoma (HP:0030153)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Cholangiocarcinoma (HP:0030153)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Cholangitis (HP:0030151)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Cholangitis (HP:0030151)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:263200)
Gene: PKHD1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKHD1
Phenotype: Weight loss (HP:0001824)
Associated disease: Caroli disease (ORPHA:53035)
Gene: PKHD1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: PKP1
Phenotype: Sepsis (HP:0100806)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Cheilitis (HP:0100825)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Alopecia universalis (HP:0002289)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Fragile skin (HP:0001030)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Fragile skin (HP:0001030)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Scarring (HP:0100699)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Short stature (HP:0004322)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Abnormal tongue morphology (HP:0030809)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Pruritus (HP:0000989)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Anhidrosis (HP:0000970)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Sparse hair (HP:0008070)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Chapped lip (HP:0040181)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Scaling skin (HP:0040189)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP1
Phenotype: Scaling skin (HP:0040189)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Urethral stricture (HP:0012227)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Anoperineal fistula (HP:0005218)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Gene: PKP1
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Gene: PKP2
Phenotype: Syncope (HP:0001279)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: PKP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PKP2
Phenotype: Dyspnea (HP:0002094)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: PKP2
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: PKP2
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: PKP2
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: PKP2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: PKP2
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: PKP2
Phenotype: Palpitations (HP:0001962)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: PKP2
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: Epsilon wave (HP:0034304)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: Fibrofatty replacement of right ventricular myocardium (HP:0034364)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PKP2
Phenotype: Right ventricular cardiomyopathy (HP:0011663)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: PKP2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: PKP2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PKP2
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: PKP2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PKP2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: PKP2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PKP2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PKP2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PKP2
Phenotype: Dilatation of the ventricular cavity (HP:0006698)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PKP2
Phenotype: Prolonged QRS complex (HP:0006677)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Gene: PLA2G2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PLA2G2A
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PLA2G2A
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PLA2G2A
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PLA2G2A
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PLA2G2A
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PLA2G2A
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PLA2G4A
Phenotype: Decreased serum thromboxane B2 (HP:0032244)
Associated disease: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS (OMIM:618372)
Gene: PLA2G4A
Phenotype: Gastric ulcer (HP:0002592)
Associated disease: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS (OMIM:618372)
Gene: PLA2G4A
Phenotype: Duodenal ulcer (HP:0002588)
Associated disease: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS (OMIM:618372)