PedAM

Pediatric Disease Annotations & Medicines


	semantic dementia

Disease ID	1147
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	ORPHANET:100069
UMLS	C0338462
SNOMED-CT	SNOMEDCT_US_2016_09_01:230288001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0476254 \| dyslexia \| 3 C0085084 \| motor neuron disease \| 2 C0338451 \| frontotemporal dementia \| 1 C0679466 \| cognitive deficits \| 1 C0497327 \| dementia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) CHMP2B \| 25978 \| ORPHANET VCP \| 7415 \| ORPHANET GRN \| 2896 \| ORPHANET PSEN1 \| 5663 \| ORPHANET MAPT \| 4137 \| ORPHANET TREM2 \| 54209 \| 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	1147
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:0000708 \| Behavioral problems \| 1 HP:0002500 \| Leukoaraiosis \| 1 HP:0000360 \| Ringing in the ears \| 1 HP:0002145 \| Frontotemporal dementia \| 1 HP:0000726 \| Dementia \| 1 HP:0100315 \| Lewy bodies \| 1 HP:0010780 \| Hyperacusis \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0010523 \| Alexia \| 1

Disease ID	1147
Disease	semantic dementia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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
rs63750869	20598713	4137	MAPT	umls:C0338462	BeFree	Semantic dementia associated with mutation V363I in the tau gene.	0.121357209	2010	MAPT	17	46018707	G	A
rs63751273	21555888	4137	MAPT	umls:C0338462	BeFree	Familial semantic dementia with P301L mutation in the Tau gene.	0.121357209	2011	MAPT	17	46010389	C	T

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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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