TaoMedAI/RareMedData huggingface dataset:
Gene: AMACR
Phenotype: Decreased serum bile acid concentration (HP:0030985)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Intention tremor (HP:0002080)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Migraine (HP:0002076)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Migraine (HP:0002076)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts (HP:6000134)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Increased phytanic acid:pristanic acid ratio (HP:0034449)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Status epilepticus (HP:0002133)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Decreased circulating vitamin K concentration (HP:0011892)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Giant cell hepatitis (HP:0200084)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Giant cell hepatitis (HP:0200084)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Memory impairment (HP:0002354)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Homonymous hemianopia (HP:0030516)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Depression (HP:0000716)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Depression (HP:0000716)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Young adult onset (HP:0011462)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Cataract (HP:0000518)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Cataract (HP:0000518)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Visual impairment (HP:0000505)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CD2AP
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO (OMIM:607832)
Gene: CD2AP
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO (OMIM:607832)
Gene: CD2AP
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Proteinuria (HP:0000093)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO (OMIM:607832)
Gene: CD2AP
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Hematuria (HP:0000790)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO (OMIM:607832)
Gene: CD2AP
Phenotype: Hypertension (HP:0000822)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO (OMIM:607832)
Gene: CD2AP
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: CD2AP
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KCNE5
Phenotype: Tapered finger (HP:0001182)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE5
Phenotype: Hypotonia (HP:0001252)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Proteinuria (HP:0000093)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE5
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE5
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE5
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE5
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE5
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE5
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE5
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE5
Phenotype: Malar flattening (HP:0000272)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE5
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE5
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Strabismus (HP:0000486)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: KCNE5
Phenotype: Myopia (HP:0000545)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: NUP62
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Hypertonia (HP:0001276)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Ataxia (HP:0001251)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Intellectual disability (HP:0001249)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: NUP62
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Gene: NUP62
Phenotype: Dysarthria (HP:0001260)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)