TaoMedAI/RareMedData huggingface dataset:
Gene: SERPINE1
Phenotype: Oral bleeding (HP:0040184)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Intramuscular hematoma (HP:0012233)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Miscarriage (HP:0005268)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Joint hemorrhage (HP:0005261)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Myocardial fibrosis (HP:0001685)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Premature birth (HP:0001622)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Epistaxis (HP:0000421)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY (OMIM:613329)
Gene: PAK1
Phenotype: Poor speech (HP:0002465)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Receptive language delay (HP:0010863)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Microtia (HP:0008551)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Esodeviation (HP:0020045)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Long face (HP:0000276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Broad forehead (HP:0000337)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK1
Phenotype: Postnatal macrocephaly (HP:0005490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Gene: PAK2
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Bronchial wall thickening (HP:0033542)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Vitreous floaters (HP:0100832)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Seizure (HP:0001250)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Seizure (HP:0001250)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Encephalocele (HP:0002084)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Lymphangioma (HP:0100764)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Autism (HP:0000717)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Anterior cortical cataract (HP:0007795)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Bifid ureter (HP:0030037)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: High myopia (HP:0011003)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Micrognathia (HP:0000347)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Dextrocardia (HP:0001651)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Strabismus (HP:0000486)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Cataract (HP:0000518)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Visual loss (HP:0000572)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Gene: PAK2
Phenotype: Myopia (HP:0000545)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: PAK3
Phenotype: Poor speech (HP:0002465)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Clumsiness (HP:0002312)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Short attention span (HP:0000736)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Restlessness (HP:0000711)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Agitation (HP:0000713)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Psychosis (HP:0000709)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Short nose (HP:0003196)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Flat face (HP:0012368)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PAK3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
Gene: PRKN
Phenotype: Panic attack (HP:0025269)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Spasticity (HP:0001257)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Pill-rolling tremor (HP:0025387)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Dystonia (HP:0001332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Tremor (HP:0001337)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: PRKN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: PRKN
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: PRKN
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: PRKN
Phenotype: Nausea (HP:0002018)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Constipation (HP:0002019)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Diarrhea (HP:0002014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Rigidity (HP:0002063)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Babinski sign (HP:0003487)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Postural tremor (HP:0002174)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Postural instability (HP:0002172)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Middle age onset (HP:0003596)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Impulsivity (HP:0100710)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Insomnia (HP:0100785)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Shuffling gait (HP:0002362)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Hypokinesia (HP:0002375)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Dysgerminoma (HP:0100621)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: PRKN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Diplopia (HP:0000651)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: PRKN
Phenotype: Focal dystonia (HP:0004373)
Associated disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Gene: PRKN
Phenotype: Hallucinations (HP:0000738)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Anxiety (HP:0000739)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Short attention span (HP:0000736)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PRKN
Phenotype: Apathy (HP:0000741)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)