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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Dementia (D003704)
Parent Node: Tauopathies (D024801)
..Starting node ..Alzheimer Disease (D000544)
Child Nodes:
........Alzheimer Disease 10 (C566465)
........Alzheimer Disease 11 (C565228)
........Alzheimer Disease 12 (C567022)
........Alzheimer Disease 13 (C567000)
........Alzheimer Disease 14 (C566999)
........Alzheimer Disease 15 (C566998)
........Alzheimer Disease 16 (C567463)
........Alzheimer Disease 5 (C566578)
........Alzheimer Disease 6 (C565325)
........Alzheimer Disease 7 (C565251)
........Alzheimer Disease 8 (C564622)
........Alzheimer Disease 9 (C563834)
........Alzheimer disease type 1 (C536594)
........Alzheimer disease type 2 (C536595)
........Alzheimer disease type 4 (C536596)
........Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy (C566299)
........Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology (C565728)
........Alzheimer Disease, Familial, 1 (C566298)
........Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia (C564330)
........Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques (C564329)
........Alzheimer disease, familial, type 3 (C536598)
........Alzheimer's disease without Neurofibrillary tangles (C536599)
........Lewy Body Variant of Alzheimer Disease (C565078)
........Presenile And Senile Dementia (C563254)
Sister Nodes:
..Alzheimer Disease (D000544) 24
..Diffuse Neurofibrillary Tangles with Calcification (D055956)
..Supranuclear Palsy, Progressive (D013494) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

494

Name:

Alzheimer Disease

Definition:

A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)

Alternative IDs:

OMIM:104300

ParentIDs:

MESH:D003704|MESH:D024801

TreeNumbers:

C10.228.140.380.100 |C10.574.945.249 |F03.087.400.100

Synonyms:

Slim Mappings:

Mental disorder|Nervous system disease

Reference:

MedGen: D000544
MeSH: D000544
OMIM: 104300;

Genes: ACE; AD5; APBB2; APP; BLMH; HFE; MPO; NOS3; PAXIP1; PLAU; SORL1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002511	Alzheimer disease
3	HP:0410054	Decreased circulating GABA concentration
4	HP:0000726	Dementia
5	HP:0001425	Heterogeneous
6	HP:0002423	Long-tract signs
7	HP:0002185	Neurofibrillary tangles
8	HP:0001300	Parkinsonism

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000484.3(APP):c.2149G>A (p.Val717Ile)	351	APP	Pathogenic	63750264	RCV000020308; RCV000019714; RCV000084575;	N	MedGen:C0002395,OMIM:104300,SNOMED CT:26929004; MedGen:C1863052; MedGen:CN221809	21	27264096	27264096	NM_000484.3:c.2149G>A	NP_000475.1:p.Val717Ile	NC_000021.8:g.27264096C>A,NC_000021.8:g.27264096C>G,NC_000021.8:g.27264096C>T	OMIM Allelic Variant:104760.0002	C1863052 Alzheimer disease, type 1; C0002395 104300 Alzheimer's disease; CN221809 not provided
NM_000484.3(APP):c.2078A>G (p.Glu693Gly)	351	APP	Pathogenic	63751039	RCV000020307; RCV000019726; RCV000019725; RCV000084563;	N	MedGen:C0002395,OMIM:104300,SNOMED CT:26929004; MedGen:C1863052; MedGen:C2751536,OMIM:605714; MedGen:CN221809	21	27264167	27264167	NM_000484.3:c.2078A>G	NP_000475.1:p.Glu693Gly	NC_000021.8:g.27264167T>C	OMIM Allelic Variant:104760.0013	C1863052 Alzheimer disease, type 1; C0002395 104300 Alzheimer's disease; C2751536 605714 Cerebral amyloid angiopathy, APP-related; CN221809 not provided
NM_000484.3(APP):c.2075C>G (p.Ala692Gly)	351	APP	Pathogenic	63750671	RCV000020306; RCV000019717; RCV000019718; RCV000084561;	N	MedGen:C0002395,OMIM:104300,SNOMED CT:26929004; MedGen:C1863052; MedGen:C2751536,OMIM:605714; MedGen:CN221809	21	27264170	27264170	NM_000484.3:c.2075C>G	NP_000475.1:p.Ala692Gly	NC_000021.8:g.27264170G>C	OMIM Allelic Variant:104760.0005	C1863052 Alzheimer disease, type 1; C0002395 104300 Alzheimer's disease; C2751536 605714 Cerebral amyloid angiopathy, APP-related; CN221809 not provided
NM_000484.3(APP):c.2018C>T (p.Ala673Val)	351	APP	Pathogenic	193922916	RCV000019734;	N	MedGen:C0002395,OMIM:104300,SNOMED CT:26929004	21	27269931	27269931	NM_000484.3:c.2018C>T	NP_000475.1:p.Ala673Val	NC_000021.8:g.27269931G>A	OMIM Allelic Variant:104760.0022	C0002395 104300 Alzheimer's disease
NM_000484.3(APP):c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu)	351	APP	Pathogenic	281865161	RCV000034924; RCV000019720; RCV000084589;	N	MedGen:C0002395,OMIM:104300,SNOMED CT:26929004; MedGen:C1863052; MedGen:CN221809	21	27269938	27269939	NM_000484.3:c.2010_2011delGAinsTC	NP_000475.1:p.Lys670_Met671delinsAsnLeu	NC_000021.8:g.27269938_27269939delTCinsGA	OMIM Allelic Variant:104760.0008,OMIM Allelic Variant:104760.0018	C1863052 Alzheimer disease, type 1; C0002395 104300 Alzheimer's disease; CN221809 not provided
NC_000021.8:g.14714507_29216662dup14502156	-1	more than 10	Pathogenic	-1	RCV000148341;	N	MedGen:C0002395,OMIM:104300,SNOMED CT:26929004; MedGen:C2751536,OMIM:605714	21	14714507	29216662	-	-		VariO:0052	C0002395 104300 Alzheimer's disease; C2751536 605714 Cerebral amyloid angiopathy, APP-related
m.3397A>G	4535	MT-ND1	Pathogenic	199476120	RCV000010376; RCV000010377;	N	MedGen:C0002395,OMIM:104300,SNOMED CT:26929004; MedGen:C3160718,OMIM:168600,SNOMED CT:49049000	M	3397	3397	-	-	NC_012920.1:m.3397A>G	OMIM Allelic Variant:516000.0005	C0002395 104300 Alzheimer's disease; C3160718 168600 Parkinson disease, late-onset
NM_000021.3(PSEN1):c.104G>A (p.Arg35Gln)	5663	PSEN1	Uncertain significance	63750592	RCV000172094; RCV000084280;	N	MedGen:C0002395,OMIM:104300,SNOMED CT:26929004; MedGen:CN221809	14	73637521	73637521	NM_000021.3:c.104G>A	NP_000012.1:p.Arg35Gln	NC_000014.8:g.73637521G>A	-	C0002395 104300 Alzheimer's disease; CN221809 not provided
NM_000021.3(PSEN1):c.953A>G (p.Glu318Gly)	5663	PSEN1	Benign	17125721	RCV000172776; RCV000084390;	N	MedGen:C0002395,OMIM:104300,SNOMED CT:26929004; MedGen:CN221809	14	73673178	73673178	NM_000021.3:c.953A>G	NP_000012.1:p.Glu318Gly	NC_000014.8:g.73673178A>G	-	C0002395 104300 Alzheimer's disease; CN221809 not provided
NM_000447.2(PSEN2):c.185G>A (p.Arg62His)	5664	PSEN2	Benign	58973334	RCV000172777; RCV000084258;	N	MedGen:C0002395,OMIM:104300,SNOMED CT:26929004; MedGen:CN221809	1	227071449	227071449	NM_000447.2:c.185G>A	NP_000438.2:p.Arg62His	NC_000001.10:g.227071449G>A	-	C0002395 104300 Alzheimer's disease; CN221809 not provided
NM_000447.2(PSEN2):c.389C>T (p.Ser130Leu)	5664	PSEN2	Likely benign;Pathogenic	63750197	RCV000009401; RCV000009400; RCV000172588; RCV000084261;	N	MedGen:C0002395,OMIM:104300,SNOMED CT:26929004; MedGen:C1847200,OMIM:606889; MedGen:C3150958,OMIM:613697; MedGen:CN221809	1	227073271	227073271	NM_000447.2:c.389C>T	NP_000438.2:p.Ser130Leu	NC_000001.10:g.227073271C>T	OMIM Allelic Variant:600759.0008	C1847200 606889 Alzheimer disease, type 4; C0002395 104300 Alzheimer's disease; C3150958 613697 Dilated cardiomyopathy 1V; CN221809 not provided
NM_000447.2(PSEN2):c.1316A>C (p.Asp439Ala)	5664	PSEN2	Pathogenic;Uncertain significance	63750110	RCV000009395; RCV000172102; RCV000084269;	N	MedGen:C0002395,OMIM:104300,SNOMED CT:26929004; MedGen:C1847200,OMIM:606889; MedGen:CN221809	1	227083249	227083249	NM_000447.2:c.1316A>C	NP_000438.2:p.Asp439Ala	NC_000001.10:g.227083249A>C	OMIM Allelic Variant:600759.0003	C1847200 606889 Alzheimer disease, type 4; C0002395 104300 Alzheimer's disease; CN221809 not provided