TaoMedAI/RareMedData huggingface dataset:
Gene: PSEN1
Phenotype: Personality changes (HP:0000751)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Personality changes (HP:0000751)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Personality changes (HP:0000751)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
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: PSEN1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Irritability (HP:0000737)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Irritability (HP:0000737)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Irritability (HP:0000737)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
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: PSEN1
Phenotype: Disinhibition (HP:0000734)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Disinhibition (HP:0000734)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Disinhibition (HP:0000734)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Disinhibition (HP:0000734)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Abnormal diminished volition (HP:0000745)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Abnormal diminished volition (HP:0000745)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Apathy (HP:0000741)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Apathy (HP:0000741)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Apathy (HP:0000741)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Depression (HP:0000716)
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: Aggressive behavior (HP:0000718)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Restlessness (HP:0000711)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Restlessness (HP:0000711)
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: Agitation (HP:0000713)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Hyperorality (HP:0000710)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Hyperorality (HP:0000710)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Hyperorality (HP:0000710)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Dementia (HP:0000726)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: PSEN1
Phenotype: Dementia (HP:0000726)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Dementia (HP:0000726)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Dementia (HP:0000726)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: PSEN1
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Psychosis (HP:0000709)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Atypical behavior (HP:0000708)
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: Atypical behavior (HP:0000708)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Anomic aphasia (HP:0030784)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: PSEN1
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Lewy bodies (HP:0100315)
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: Senile plaques (HP:0100256)
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: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Acne inversa (HP:0040154)
Associated disease: ACNE INVERSA, FAMILIAL, 3 (OMIM:613737)
Gene: PSEN1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Perifolliculitis (HP:0012322)
Associated disease: ACNE INVERSA, FAMILIAL, 3 (OMIM:613737)
Gene: PSEN1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1U (OMIM:613694)
Gene: PSEN1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1U (OMIM:613694)
Gene: PSEN1
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, DILATED, 1U (OMIM:613694)
Gene: PSEN1
Phenotype: Emotional dearth (HP:0030213)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Emotional dearth (HP:0030213)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Collectionism (HP:0030212)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Semantic dementia (HP:0030219)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Perseverative thought (HP:0030223)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: PSEN1
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Perseverative thought (HP:0030223)
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: Visual agnosia (HP:0030222)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: PSEN1
Phenotype: Chronic furunculosis (HP:0011132)
Associated disease: ACNE INVERSA, FAMILIAL, 3 (OMIM:613737)
Gene: PSEN1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: PSEN1
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: Thickened nuchal skin fold (HP:0000474)
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 social behavior (HP:0012433)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: Late young adult onset (HP:0025710)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: PSEN1
Phenotype: Late young adult onset (HP:0025710)
Associated disease: CARDIOMYOPATHY, DILATED, 1U (OMIM:613694)
Gene: PSEN1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN1
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: PSEN1
Phenotype: EEG with continuous slow activity (HP:0011204)
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: Spoken word recognition deficit (HP:0030391)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: PSEN2
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: PSEN2
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: PSEN2
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
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: PSEN2
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: PSEN2
Phenotype: Confusion (HP:0001289)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Syncope (HP:0001279)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
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: PSEN2
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: PSEN2
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: PSEN2
Phenotype: Impairment of activities of daily living (HP:0031058)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Alzheimer disease (HP:0002511)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
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: PSEN2
Phenotype: Myoclonus (HP:0001336)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
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: PSEN2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
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: PSEN2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
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: PSEN2
Phenotype: Apraxia (HP:0002186)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
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: PSEN2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
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: PSEN2
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: PSEN2
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
Phenotype: Middle age onset (HP:0003596)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Late onset (HP:0003584)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
Phenotype: Cerebral amyloid angiopathy (HP:0011970)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
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: PSEN2
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: PSEN2
Phenotype: Memory impairment (HP:0002354)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
Phenotype: Parietal hypometabolism in FDG PET (HP:0012662)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
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: PSEN2
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Hallucinations (HP:0000738)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN2
Phenotype: Disinhibition (HP:0000734)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN2
Phenotype: Apathy (HP:0000741)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Agitation (HP:0000713)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN2
Phenotype: Dementia (HP:0000726)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN2
Phenotype: Dementia (HP:0000726)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
Phenotype: Dementia (HP:0000726)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN2
Phenotype: Anomic aphasia (HP:0030784)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
Phenotype: Senile plaques (HP:0100256)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: PSEN2
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PSEN2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)
Gene: PSEN2
Phenotype: Semantic dementia (HP:0030219)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN2
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: PSEN2
Phenotype: Late young adult onset (HP:0025710)
Associated disease: CARDIOMYOPATHY, DILATED, 1V (OMIM:613697)