TaoMedAI/RareMedData huggingface dataset:
Gene: PSAP
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Tonic seizure (HP:0032792)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Encephalopathy due to prosaposin deficiency; Combined prosaposin deficiency (ORPHA:139406)
Gene: PSAP
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Splenomegaly (HP:0001744)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Encephalopathy due to prosaposin deficiency; Combined prosaposin deficiency (ORPHA:139406)
Gene: PSAP
Phenotype: Weight loss (HP:0001824)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Ptosis (HP:0000508)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Visual loss (HP:0000572)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Myopia (HP:0000545)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSEN1
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Poor speech (HP:0002465)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Language impairment (HP:0002463)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Language impairment (HP:0002463)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Language impairment (HP:0002463)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Deposits immunoreactive to beta-amyloid protein (HP:0003791)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Primitive reflex (HP:0002476)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Primitive reflex (HP:0002476)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Dyscalculia (HP:0002442)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
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: PSEN1
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Sporadic (HP:0003745)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
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: PSEN1
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: PSEN1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
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: PSEN1
Phenotype: Confusion (HP:0001289)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Recurrent cutaneous abscess formation (HP:0100838)
Associated disease: ACNE INVERSA, FAMILIAL, 3 (OMIM:613737)
Gene: PSEN1
Phenotype: Syncope (HP:0001279)
Associated disease: CARDIOMYOPATHY, DILATED, 1U (OMIM:613694)
Gene: PSEN1
Phenotype: Seizure (HP:0001250)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Seizure (HP:0001250)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Ataxia (HP:0001251)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Polyphagia (HP:0002591)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Polyphagia (HP:0002591)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Abnormal sexual behavior (HP:0008768)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Alzheimer disease (HP:0002511)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
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: PSEN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Dystonia (HP:0001332)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACNE INVERSA, FAMILIAL, 3 (OMIM:613737)
Gene: PSEN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1U (OMIM:613694)
Gene: PSEN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Myoclonus (HP:0001336)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1U (OMIM:613694)
Gene: PSEN1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
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: PSEN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
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: PSEN1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: CARDIOMYOPATHY, DILATED, 1U (OMIM:613694)
Gene: PSEN1
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: CARDIOMYOPATHY, DILATED, 1U (OMIM:613694)
Gene: PSEN1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
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: PSEN1
Phenotype: Babinski sign (HP:0003487)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Apraxia (HP:0002186)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Apraxia (HP:0002186)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
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: PSEN1
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
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: PSEN1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: PSEN1
Phenotype: Gliosis (HP:0002171)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Echolalia (HP:0010529)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Echolalia (HP:0010529)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Dyslexia (HP:0010522)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: PSEN1
Phenotype: Dyslexia (HP:0010522)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: PSEN1
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
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: PSEN1
Phenotype: Finger agnosia (HP:0010525)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Alexia (HP:0010523)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: PSEN1
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: PSEN1
Phenotype: Middle age onset (HP:0003596)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1U (OMIM:613694)
Gene: PSEN1
Phenotype: Adult onset (HP:0003581)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Aphasia (HP:0002381)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: PSEN1
Phenotype: Aphasia (HP:0002381)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Aphasia (HP:0002381)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
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: PSEN1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
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: PSEN1
Phenotype: Loss of speech (HP:0002371)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Memory impairment (HP:0002354)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
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: PSEN1
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
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: PSEN1
Phenotype: Mutism (HP:0002300)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
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: PSEN1
Phenotype: Optic ataxia (HP:0031868)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
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: PSEN1
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: CARDIOMYOPATHY, DILATED, 1U (OMIM:613694)
Gene: PSEN1
Phenotype: Abulia (HP:0012671)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: PSEN1
Phenotype: Abulia (HP:0012671)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
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: PSEN1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
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: PSEN1
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: PSEN1
Phenotype: Lack of insight (HP:0000757)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Personality changes (HP:0000751)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)