TaoMedAI/RareMedData huggingface dataset:
Gene: IFT56
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Inlet ventricular septal defect (HP:0011622)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Jaundice (HP:0000952)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Edema (HP:0000969)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Osteopenia (HP:0000938)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Long face (HP:0000276)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Ascites (HP:0001541)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Vegetative state (HP:0031358)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Left-to-right shunt (HP:0012382)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Bidirectional shunt (HP:0012383)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Weak cry (HP:0001612)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Low-set ears (HP:0000369)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Dextrocardia (HP:0001651)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Round face (HP:0000311)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Deeply set eye (HP:0000490)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Protruding ear (HP:0000411)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Splenomegaly (HP:0001744)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Coloboma (HP:0000589)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: STN1
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Spasticity (HP:0001257)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Dystonia (HP:0001332)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Esophageal varix (HP:0002040)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Orthodeoxia (HP:0033367)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Cough (HP:0012735)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Crackles (HP:0030830)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Osteopenia (HP:0000938)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Motor regression (HP:0033044)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Retinal telangiectasia (HP:0007763)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Growth delay (HP:0001510)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Fatigue (HP:0012378)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: STN1
Phenotype: Abnormally low T cell receptor excision circle level (HP:0031545)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: STN1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (OMIM:617341)
Gene: GREB1L
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 3 (OMIM:617805)
Gene: GREB1L
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 3 (OMIM:617805)
Gene: GREB1L
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 3 (OMIM:617805)
Gene: GREB1L
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 3 (OMIM:617805)
Gene: GREB1L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 3 (OMIM:617805)
Gene: GREB1L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 80 (OMIM:619274)
Gene: GREB1L
Phenotype: Cleft palate (HP:0000175)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 3 (OMIM:617805)
Gene: GREB1L
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 3 (OMIM:617805)
Gene: GREB1L
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 3 (OMIM:617805)
Gene: GREB1L
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Renal agenesis (HP:0000104)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 3 (OMIM:617805)
Gene: GREB1L
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Urogenital fistula (HP:0100589)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Sirenomelia (HP:0010497)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Congenital onset (HP:0003577)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 3 (OMIM:617805)
Gene: GREB1L
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 80 (OMIM:619274)
Gene: GREB1L
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 80 (OMIM:619274)
Gene: GREB1L
Phenotype: Nonketotic hypoglycemia (HP:0001958)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Dilated vestibule of the inner ear (HP:0011379)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 80 (OMIM:619274)
Gene: GREB1L
Phenotype: Abnormal semicircular canal morphology (HP:0011380)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 80 (OMIM:619274)
Gene: GREB1L
Phenotype: Cochlear aplasia (HP:0011375)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 80 (OMIM:619274)
Gene: GREB1L
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Cochlear nerve aplasia (HP:6000988)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 80 (OMIM:619274)
Gene: GREB1L
Phenotype: Epicanthus (HP:0000286)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Fetal polyuria (HP:0001563)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Low-set ears (HP:0000369)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GREB1L
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: PANK2
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Eye of the tiger anomaly of globus pallidus (HP:0002454)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Eye of the tiger anomaly of globus pallidus (HP:0002454)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Cerebral degeneration (HP:0007313)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Seizure (HP:0001250)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Dysarthria (HP:0001260)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Spasticity (HP:0001257)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Spasticity (HP:0001257)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Violent behavior (HP:0008760)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Inability to walk (HP:0002540)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Abnormal posturing (HP:0002533)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Tremor (HP:0001337)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)