TaoMedAI/RareMedData huggingface dataset:
Gene: APOE
Phenotype: Long-tract sign (HP:0002423)
Associated disease: ALZHEIMER DISEASE 2 (OMIM:104310)
Gene: APOE
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: LIPOPROTEIN GLOMERULOPATHY (OMIM:611771)
Gene: APOE
Phenotype: Confusion (HP:0001289)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Gait disturbance (HP:0001288)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Seizure (HP:0001250)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Dysarthria (HP:0001260)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Impairment of activities of daily living (HP:0031058)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Alzheimer disease (HP:0002511)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Alzheimer disease (HP:0002511)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Alzheimer disease (HP:0002511)
Associated disease: ALZHEIMER DISEASE 2 (OMIM:104310)
Gene: APOE
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: LIPOPROTEIN GLOMERULOPATHY (OMIM:611771)
Gene: APOE
Phenotype: Proteinuria (HP:0000093)
Associated disease: LIPOPROTEIN GLOMERULOPATHY (OMIM:611771)
Gene: APOE
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Cirrhosis (HP:0001394)
Associated disease: SEA-BLUE HISTIOCYTE DISEASE (OMIM:269600)
Gene: APOE
Phenotype: Dystonia (HP:0001332)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SEA-BLUE HISTIOCYTE DISEASE (OMIM:269600)
Gene: APOE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: APOE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALZHEIMER DISEASE 2 (OMIM:104310)
Gene: APOE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Myoclonus (HP:0001336)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Myoclonus (HP:0001336)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Type IV atherosclerotic lesion (HP:0002635)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Parkinsonism (HP:0001300)
Associated disease: ALZHEIMER DISEASE 2 (OMIM:104310)
Gene: APOE
Phenotype: Tuberous xanthoma (HP:0031290)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Dysphagia (HP:0002015)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Babinski sign (HP:0003487)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Apraxia (HP:0002186)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Apraxia (HP:0002186)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: ALZHEIMER DISEASE 2 (OMIM:104310)
Gene: APOE
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Middle age onset (HP:0003596)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Late onset (HP:0003584)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: APOE
Phenotype: Late onset (HP:0003584)
Associated disease: ALZHEIMER DISEASE 2 (OMIM:104310)
Gene: APOE
Phenotype: Adult onset (HP:0003581)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Adult onset (HP:0003581)
Associated disease: SEA-BLUE HISTIOCYTE DISEASE (OMIM:269600)
Gene: APOE
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: SEA-BLUE HISTIOCYTE DISEASE (OMIM:269600)
Gene: APOE
Phenotype: Cerebral amyloid angiopathy (HP:0011970)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Eruptive xanthomas (HP:0001013)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Memory impairment (HP:0002354)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Memory impairment (HP:0002354)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Foam cells (HP:0003651)
Associated disease: SEA-BLUE HISTIOCYTE DISEASE (OMIM:269600)
Gene: APOE
Phenotype: Corneal arcus (HP:0001084)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Accelerated atherosclerosis (HP:0004943)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Optic ataxia (HP:0031868)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Sea-blue histiocytosis (HP:0001982)
Associated disease: SEA-BLUE HISTIOCYTE DISEASE (OMIM:269600)
Gene: APOE
Phenotype: Macular degeneration (HP:0000608)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: APOE
Phenotype: Macular drusen (HP:0030499)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: APOE
Phenotype: Parietal hypometabolism in FDG PET (HP:0012662)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Lipemia retinalis (HP:0000660)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Foveal hypopigmentation (HP:0012643)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: APOE
Phenotype: Gout (HP:0001997)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: SEA-BLUE HISTIOCYTE DISEASE (OMIM:269600)
Gene: APOE
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: SEA-BLUE HISTIOCYTE DISEASE (OMIM:269600)
Gene: APOE
Phenotype: Personality changes (HP:0000751)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Apathy (HP:0000741)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Dementia (HP:0000726)
Associated disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Gene: APOE
Phenotype: Dementia (HP:0000726)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Dementia (HP:0000726)
Associated disease: ALZHEIMER DISEASE 2 (OMIM:104310)
Gene: APOE
Phenotype: Renal steatosis (HP:0000799)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Anomic aphasia (HP:0030784)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: APOE
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Senile plaques (HP:0100256)
Associated disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Gene: APOE
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Macular hemorrhage (HP:0025574)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: APOE
Phenotype: Xanthomas of the palmar creases (HP:0025530)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Obesity (HP:0001513)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Aortic atherosclerotic lesion (HP:0012397)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Geographic atrophy (HP:0031609)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: APOE
Phenotype: Acute pancreatitis (HP:0001735)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SEA-BLUE HISTIOCYTE DISEASE (OMIM:269600)
Gene: APOE
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: APOE
Phenotype: Mesangial hypercellularity (HP:0012574)
Associated disease: LIPOPROTEIN GLOMERULOPATHY (OMIM:611771)
Gene: APOE
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SEA-BLUE HISTIOCYTE DISEASE (OMIM:269600)
Gene: APP
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: APP
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: APP
Phenotype: Long-tract sign (HP:0002423)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: APP
Phenotype: Stroke (HP:0001297)
Associated disease: Hereditary cerebral hemorrhage with amyloidosis, Italian type; ABetaE22K amyloidosis; ABeta amyloidosis, Italian type; HCHWA, Italian type (ORPHA:324713)
Gene: APP
Phenotype: Stroke (HP:0001297)
Associated disease: HCHWA, Piedmont type; ABetaL34V amyloidosis; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; ABeta amyloidosis, Piedmont type (ORPHA:324703)
Gene: APP
Phenotype: Stroke (HP:0001297)
Associated disease: HCHWA, Iowa type; ABetaD23N amyloidosis; ABeta amyloidosis, Iowa type; Hereditary cerebral hemorrhage with amyloidosis, Iowa type (ORPHA:324708)
Gene: APP
Phenotype: Stroke (HP:0001297)
Associated disease: HCHWA, Dutch type; ABeta amyloidosis, Dutch type; ABetaE22Q amyloidosis; HCHWA-D; Hereditary cerebral hemorrhage with amyloidosis, Dutch type (ORPHA:100006)
Gene: APP
Phenotype: Stroke (HP:0001297)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)
Gene: APP
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: APP
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Hereditary cerebral hemorrhage with amyloidosis, Italian type; ABetaE22K amyloidosis; ABeta amyloidosis, Italian type; HCHWA, Italian type (ORPHA:324713)
Gene: APP
Phenotype: Mental deterioration (HP:0001268)
Associated disease: HCHWA, Dutch type; ABeta amyloidosis, Dutch type; ABetaE22Q amyloidosis; HCHWA-D; Hereditary cerebral hemorrhage with amyloidosis, Dutch type (ORPHA:100006)
Gene: APP
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: APP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: HCHWA, Iowa type; ABetaD23N amyloidosis; ABeta amyloidosis, Iowa type; Hereditary cerebral hemorrhage with amyloidosis, Iowa type (ORPHA:324708)
Gene: APP
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: APP
Phenotype: Seizure (HP:0001250)
Associated disease: Hereditary cerebral hemorrhage with amyloidosis, Italian type; ABetaE22K amyloidosis; ABeta amyloidosis, Italian type; HCHWA, Italian type (ORPHA:324713)
Gene: APP
Phenotype: Seizure (HP:0001250)
Associated disease: HCHWA, Dutch type; ABeta amyloidosis, Dutch type; ABetaE22Q amyloidosis; HCHWA-D; Hereditary cerebral hemorrhage with amyloidosis, Dutch type (ORPHA:100006)
Gene: APP
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: APP
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: APP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HCHWA, Piedmont type; ABetaL34V amyloidosis; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; ABeta amyloidosis, Piedmont type (ORPHA:324703)
Gene: APP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HCHWA, Piedmont type; ABetaL34V amyloidosis; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; ABeta amyloidosis, Piedmont type (ORPHA:324703)
Gene: APP
Phenotype: Coma (HP:0001259)
Associated disease: Hereditary cerebral hemorrhage with amyloidosis, Italian type; ABetaE22K amyloidosis; ABeta amyloidosis, Italian type; HCHWA, Italian type (ORPHA:324713)
Gene: APP
Phenotype: Coma (HP:0001259)
Associated disease: HCHWA, Piedmont type; ABetaL34V amyloidosis; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; ABeta amyloidosis, Piedmont type (ORPHA:324703)
Gene: APP
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: HCHWA, Dutch type; ABeta amyloidosis, Dutch type; ABetaE22Q amyloidosis; HCHWA-D; Hereditary cerebral hemorrhage with amyloidosis, Dutch type (ORPHA:100006)
Gene: APP
Phenotype: Alzheimer disease (HP:0002511)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: APP
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary cerebral hemorrhage with amyloidosis, Italian type; ABetaE22K amyloidosis; ABeta amyloidosis, Italian type; HCHWA, Italian type (ORPHA:324713)
Gene: APP
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: HCHWA, Piedmont type; ABetaL34V amyloidosis; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; ABeta amyloidosis, Piedmont type (ORPHA:324703)
Gene: APP
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: HCHWA, Iowa type; ABetaD23N amyloidosis; ABeta amyloidosis, Iowa type; Hereditary cerebral hemorrhage with amyloidosis, Iowa type (ORPHA:324708)
Gene: APP
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: HCHWA, Dutch type; ABeta amyloidosis, Dutch type; ABetaE22Q amyloidosis; HCHWA-D; Hereditary cerebral hemorrhage with amyloidosis, Dutch type (ORPHA:100006)
Gene: APP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)
Gene: APP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: APP
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: APP
Phenotype: Myoclonus (HP:0001336)
Associated disease: HCHWA, Iowa type; ABetaD23N amyloidosis; ABeta amyloidosis, Iowa type; Hereditary cerebral hemorrhage with amyloidosis, Iowa type (ORPHA:324708)
Gene: APP
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)
Gene: APP
Phenotype: Parkinsonism (HP:0001300)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: APP
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: APP
Phenotype: Decreased circulating GABA concentration (HP:0410054)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: APP
Phenotype: Dysphagia (HP:0002015)
Associated disease: HCHWA, Iowa type; ABetaD23N amyloidosis; ABeta amyloidosis, Iowa type; Hereditary cerebral hemorrhage with amyloidosis, Iowa type (ORPHA:324708)
Gene: APP
Phenotype: Migraine (HP:0002076)
Associated disease: Hereditary cerebral hemorrhage with amyloidosis, Italian type; ABetaE22K amyloidosis; ABeta amyloidosis, Italian type; HCHWA, Italian type (ORPHA:324713)
Gene: APP
Phenotype: Migraine (HP:0002076)
Associated disease: HCHWA, Piedmont type; ABetaL34V amyloidosis; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; ABeta amyloidosis, Piedmont type (ORPHA:324703)
Gene: APP
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: HCHWA, Piedmont type; ABetaL34V amyloidosis; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; ABeta amyloidosis, Piedmont type (ORPHA:324703)
Gene: APP
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)
Gene: APP
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: APP
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: APP
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: APP
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: ALZHEIMER DISEASE (OMIM:104300)
Gene: APP
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: APP
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: APP
Phenotype: Paresthesia (HP:0003401)
Associated disease: HCHWA, Piedmont type; ABetaL34V amyloidosis; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; ABeta amyloidosis, Piedmont type (ORPHA:324703)
Gene: APP
Phenotype: Paresthesia (HP:0003401)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)
Gene: APP
Phenotype: Middle age onset (HP:0003596)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)