PedAM

Pediatric Disease Annotations & Medicines


	brody myopathy

Disease ID	684
Disease	brody myopathy
Definition	Brody myopathy is a genetic disease. - Wikipedia Reference: https://en.wikipedia.org/wiki/brody myopathy
Synonym	autosomal recessive brody myopathy brody disease brody myopathy (disorder)
Orphanet	ORPHANET:53347
OMIM	OMIM:601003
DOID	DOID:0050692
UMLS	C1832918
SNOMED-CT	SNOMEDCT_US_2016_09_01:703530005
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) ATP2A1 \| 487 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:5) 487 \| ATP2A1 \| DISEASES 6261 \| RYR1 \| DISEASES 489 \| ATP2A3 \| DISEASES 488 \| ATP2A2 \| DISEASES 820 \| CAMP \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) ATP2A1 \| 16p11.2

Disease ID	684
Disease	brody myopathy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0003394 \| Muscle cramps
Text Mined Phenotype	(Waiting for update.)

Disease ID	684
Disease	brody myopathy
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
rs121918113	NA	487	ATP2A1	umls:C1832918	CLINVAR	NA	0.482714419	NA	ATP2A1;NPIPB8	16	28887236	C	T
rs121918114	NA	487	ATP2A1	umls:C1832918	CLINVAR	NA	0.482714419	NA	ATP2A1;NPIPB8	16	28900841	C	A
rs121918115	NA	487	ATP2A1	umls:C1832918	CLINVAR	NA	0.482714419	NA	ATP2A1;NPIPB8	16	28902228	C	T
rs121918115	10914677	1769	DNAH8	umls:C1832918	BeFree	The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.	0.001357209	2000	ATP2A1;NPIPB8	16	28902228	C	T
rs121918115	10914677	487	ATP2A1	umls:C1832918	BeFree	The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.	0.482714419	2000	ATP2A1;NPIPB8	16	28902228	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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