TaoMedAI/RareMedData huggingface dataset:
Gene: PPP2CA
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Broad forehead (HP:0000337)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Megalocornea (HP:0000485)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Proptosis (HP:0000520)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2CA
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Gene: PPP2R1A
Phenotype: Poor speech (HP:0002465)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Inability to walk (HP:0002540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Absent speech (HP:0001344)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Open mouth (HP:0000194)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Abnormal hair whorl (HP:0010721)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Abnormal hair whorl (HP:0010721)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Broad hallux (HP:0010055)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Broad hallux (HP:0010055)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Olivopontocerebellar hypoplasia (HP:0006955)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Deviation of the 5th finger (HP:0009179)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Aplasia of the vagina (HP:0003250)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Hypoplastic aortic arch (HP:0012304)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Upper eyelid entropion (HP:0025607)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1A
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Gene: PPP2R1A
Phenotype: Visual impairment (HP:0000505)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Gene: PPP2R1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: PPP2R1B
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: PPP2R1B
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: PPP2R1B
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: PPP2R1B
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: PPP2R2B
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Ataxia (HP:0001251)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Axial dystonia (HP:0002530)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Intention tremor (HP:0002080)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Postural tremor (HP:0002174)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Action tremor (HP:0002345)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Action tremor (HP:0002345)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Head tremor (HP:0002346)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Anxiety (HP:0000739)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Delusion (HP:0000746)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Depression (HP:0000716)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Dementia (HP:0000726)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Dementia (HP:0000726)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Tremor by anatomical site (HP:0030188)
Associated disease: Spinocerebellar ataxia type 12; SCA12 (ORPHA:98762)
Gene: PPP2R2B
Phenotype: Facial myokymia (HP:0000317)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PPP2R2B
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: SPINOCEREBELLAR ATAXIA 12 (OMIM:604326)
Gene: PTPA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)
Gene: PTPA
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)
Gene: PTPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)
Gene: PTPA
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)
Gene: PTPA
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)
Gene: PTPA
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)
Gene: PTPA
Phenotype: Drooling (HP:0002307)
Associated disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)
Gene: PTPA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)