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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   semantic dementia
  

Disease ID 1814
Disease semantic dementia
Definition
A progressive loss of the ability to remember the meaning of words, faces and objects. [ICM:PCaroppo, pmid:24966676]
Synonym
dementia, semantic
dementias, semantic
semantic dementia (disorder)
semantic dementias
Orphanet
UMLS
C0338462
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:5)
C0476254  |  dyslexia  |  3
C0085084  |  motor neuron disease  |  2
C0338451  |  frontotemporal dementia  |  1
C0497327  |  dementia  |  1
C0679466  |  cognitive deficits  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:6)
7415  |  VCP  |  ORPHANET
5663  |  PSEN1  |  ORPHANET
25978  |  CHMP2B  |  ORPHANET
2896  |  GRN  |  ORPHANET
4137  |  MAPT  |  ORPHANET
54209  |  TREM2  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:7)
VCP  |  9p13.3
TREM2  |  6p21.1
CHMP2B  |  3p11.2
GRN  |  17q21.31
MAPT  |  17q21.31
PSEN1  |  14q24.2
C9ORF72  |  9p21.2
Disease ID 1814
Disease semantic dementia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:12)
HP:0010522  |  Dyslexia  |  3
HP:0030784  |  Anomic aphasia  |  2
HP:0002366  |  Lower motor neuron disease  |  1
HP:0002500  |  Leukoaraiosis  |  1
HP:0100315  |  Lewy bodies  |  1
HP:0010523  |  Alexia  |  1
HP:0100543  |  Cognitive deficits  |  1
HP:0010780  |  Hyperacusis  |  1
HP:0000360  |  Ringing in the ears  |  1
HP:0000726  |  Dementia  |  1
HP:0002145  |  Frontotemporal dementia  |  1
HP:0000708  |  Behavioral problems  |  1
Disease ID 1814
Disease semantic dementia
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs63750869205987134137MAPTumls:C0338462BeFreeSemantic dementia associated with mutation V363I in the tau gene.0.1213572092010MAPT1746018707GA
rs63751273215558884137MAPTumls:C0338462BeFreeFamilial semantic dementia with P301L mutation in the Tau gene.0.1213572092011MAPT1746010389CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1814
Disease semantic dementia
Case(Waiting for update.)