TaoMedAI/RareMedData huggingface dataset:
Gene: GRIA4
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Status epilepticus (HP:0002133)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Irritability (HP:0000737)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Short attention span (HP:0000736)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Joint contracture (HP:0034392)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Macrotia (HP:0000400)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRIA4
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Gene: GRID2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SCAR18 (ORPHA:363432)
Gene: GRID2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SCAR18 (ORPHA:363432)
Gene: GRID2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SCAR18 (ORPHA:363432)
Gene: GRID2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SCAR18 (ORPHA:363432)
Gene: GRID2
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SCAR18 (ORPHA:363432)
Gene: GRID2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SCAR18 (ORPHA:363432)
Gene: GRID2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Incoordination (HP:0002311)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SCAR18 (ORPHA:363432)
Gene: GRID2
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SCAR18 (ORPHA:363432)
Gene: GRID2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SCAR18 (ORPHA:363432)
Gene: GRID2
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SCAR18 (ORPHA:363432)
Gene: GRID2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SCAR18 (ORPHA:363432)
Gene: GRID2
Phenotype: Esotropia (HP:0000565)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRID2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Gene: GRN
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Poor speech (HP:0002465)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Dyscalculia (HP:0002442)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Expressive aphasia (HP:0002427)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Stroke (HP:0001297)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Gene: GRN
Phenotype: Mental deterioration (HP:0001268)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Gene: GRN
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Seizure (HP:0001250)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Gene: GRN
Phenotype: Ataxia (HP:0001251)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Gene: GRN
Phenotype: Polyphagia (HP:0002591)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: EEG with generalized polyspikes (HP:0012001)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Gene: GRN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Gene: GRN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Parkinsonism (HP:0001300)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Gene: GRN
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Apraxia (HP:0002186)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Apraxia (HP:0002186)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: GRN
Phenotype: Gliosis (HP:0002171)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Echolalia (HP:0010529)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Dyslexia (HP:0010522)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: GRN
Phenotype: Dyslexia (HP:0010522)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: GRN
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Alexia (HP:0010523)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: GRN
Phenotype: Alexia (HP:0010523)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Progressive language deterioration (HP:0007064)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Fasciculations (HP:0002380)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Aphasia (HP:0002381)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: GRN
Phenotype: Aphasia (HP:0002381)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Aphasia (HP:0002381)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Aphasia (HP:0002381)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Loss of speech (HP:0002371)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Memory impairment (HP:0002354)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Memory impairment (HP:0002354)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Gene: GRN
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Mutism (HP:0002300)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Mutism (HP:0002300)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Mutism (HP:0002300)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Amplification of sexual behavior (HP:5200321)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
Gene: GRN
Phenotype: Abulia (HP:0012671)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: GRN
Phenotype: Abulia (HP:0012671)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Deficit in grammar (HP:0006977)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Brain neoplasm (HP:0030692)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Lack of insight (HP:0000757)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Personality changes (HP:0000751)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Personality changes (HP:0000751)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Personality changes (HP:0000751)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Hallucinations (HP:0000738)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Irritability (HP:0000737)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Anxiety (HP:0000739)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: GRN
Phenotype: Disinhibition (HP:0000734)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Disinhibition (HP:0000734)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Apathy (HP:0000741)
Associated disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Gene: GRN
Phenotype: Apathy (HP:0000741)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: GRN
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)