TaoMedAI/RareMedData huggingface dataset:
Gene: KANSL1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Macrotia (HP:0000400)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Macrotia (HP:0000400)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Macrotia (HP:0000400)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Strabismus (HP:0000486)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Strabismus (HP:0000486)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Strabismus (HP:0000486)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Pes planus (HP:0001763)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Pes planus (HP:0001763)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Pear-shaped nose (HP:0000447)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Pear-shaped nose (HP:0000447)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Pear-shaped nose (HP:0000447)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Protruding ear (HP:0000411)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Pes cavus (HP:0001761)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Cataract (HP:0000518)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Ptosis (HP:0000508)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Ptosis (HP:0000508)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Ptosis (HP:0000508)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Visual impairment (HP:0000505)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: KANSL1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: 17q21.31 microdeletion syndrome; Monosomy 17q21.31; Del(17)(q21.31) (ORPHA:363958)
Gene: KANSL1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Gene: KANSL1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Gene: NEK8
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 9 (OMIM:613824)
Gene: NEK8
Phenotype: Hyperamylasemia (HP:0410288)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Stillbirth (HP:0003826)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Renal insufficiency (HP:0000083)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Nephronophthisis (HP:0000090)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 9 (OMIM:613824)
Gene: NEK8
Phenotype: Cholestasis (HP:0001396)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: NEPHRONOPHTHISIS 9 (OMIM:613824)
Gene: NEK8
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 9 (OMIM:613824)
Gene: NEK8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Renal cyst (HP:0000107)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Renal cyst (HP:0000107)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Polyuria (HP:0000103)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Polyuria (HP:0000103)
Associated disease: NEPHRONOPHTHISIS 9 (OMIM:613824)
Gene: NEK8
Phenotype: Enlarged kidney (HP:0000105)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Hepatic cysts (HP:0001407)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Abnormal pancreatic duct morphology (HP:0030992)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Renal cortical microcysts (HP:0004734)
Associated disease: NEPHRONOPHTHISIS 9 (OMIM:613824)
Gene: NEK8
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Middle age onset (HP:0003596)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Infantile onset (HP:0003593)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Congenital onset (HP:0003577)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Congenital onset (HP:0003577)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Late onset (HP:0003584)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Increased circulating lipoprotein lipase concentration (HP:0033478)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Neonatal onset (HP:0003623)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Juvenile onset (HP:0003621)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Polydipsia (HP:0001959)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Polydipsia (HP:0001959)
Associated disease: NEPHRONOPHTHISIS 9 (OMIM:613824)
Gene: NEK8
Phenotype: Anemia (HP:0001903)
Associated disease: NEPHRONOPHTHISIS 9 (OMIM:613824)
Gene: NEK8
Phenotype: Short stature (HP:0004322)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Cystic renal dysplasia (HP:0000800)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Second trimester onset (HP:0034198)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Childhood onset (HP:0011463)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Young adult onset (HP:0011462)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Fetal onset (HP:0011461)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Hematuria (HP:0000790)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Hypertension (HP:0000822)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Hypertension (HP:0000822)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Jaundice (HP:0000952)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Pancreatic dysplasia (HP:0005232)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Malformation of the hepatic ductal plate (HP:0006563)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Neonatal cholestatic liver disease (HP:0006566)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Abnormal systemic arterial morphology (HP:0011004)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Femoral bowing (HP:0002980)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Abnormal liver parenchyma morphology (HP:0030146)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Flank pain (HP:0030157)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease:  (OMIM:620903)
Gene: NEK8
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Asplenia (HP:0001746)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Asplenia (HP:0001746)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NEK8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
Gene: NEK8
Phenotype: Abnormal urinary electrolyte concentration (HP:0012591)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Albuminuria (HP:0012592)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: NEK8
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: NEPHRONOPHTHISIS 9 (OMIM:613824)
Gene: PIGW
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGW
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGW
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)