PedAM

Pediatric Disease Annotations & Medicines


	childhood apraxia of speech

Disease ID	1331
Disease	childhood apraxia of speech
Synonym	1s, speech-language disorder apraxia, developmental verbal apraxias, developmental verbal developmental verbal apraxia developmental verbal apraxias developmental verbal dyspraxia developmental verbal dyspraxia (disorder) developmental verbal dyspraxias disorder 1, speech-language disorder 1s, speech-language dvd - developmental verbal apraxia dyspraxia, developmental verbal dyspraxias, developmental verbal spch1 speech and language disorder with orofacial dyspraxia speech language disorder 1 speech-language disorder 1 speech-language disorder 1s verbal apraxia, developmental verbal apraxias, developmental verbal dyspraxia, developmental verbal dyspraxias, developmental
Orphanet	ORPHANET:209908
OMIM	OMIM:602081
UMLS	C0750927
SNOMED-CT	SNOMEDCT_US_2016_09_01:229703009
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) FOXP2 \| 93986 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) FOXP2 \| 7q31.1

Disease ID	1331
Disease	childhood apraxia of speech
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:5) HP:0000750 \| Late-onset speech development HP:0002546 \| Incomprehensible speech HP:0000271 \| Abnormal face HP:0007301 \| Oromotor apraxia HP:0002134 \| Abnormality of the basal ganglia
Text Mined Phenotype	(Waiting for update.)

Disease ID	1331
Disease	childhood apraxia of speech
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:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908377	NA	93986	FOXP2	umls:C0750927	CLINVAR	NA	0.483800186	NA	FOXP2	7	114662075	G	A
rs121908377	22434823	93986	FOXP2	umls:C0750927	BeFree	This inhibition is diminished by two distinct FOXP2 point mutations, R553H and R328X, which were previously found in families affected by developmental verbal dyspraxia.	0.483800186	2012	FOXP2	7	114662075	G	A
rs121908378	NA	93986	FOXP2	umls:C0750927	CLINVAR	NA	0.483800186	NA	FOXP2	7	114642616	C	T
rs121908378	22434823	93986	FOXP2	umls:C0750927	BeFree	This inhibition is diminished by two distinct FOXP2 point mutations, R553H and R328X, which were previously found in families affected by developmental verbal dyspraxia.	0.483800186	2012	FOXP2	7	114642616	C	T
rs75391579	11397328	2592	GALT	umls:C0750927	BeFree	We conclude that homozygosity for Q188R mutations in the GALT gene is a significant risk factor for DVD.	0.000271442	2000	GALT	9	34648170	A	G

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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