PedAM

Pediatric Disease Annotations & Medicines


	mitochondrial complex ii deficiency

Disease ID	1877
Disease	mitochondrial complex ii deficiency
Synonym	succinate coq reductase deficiency
OMIM	OMIM:252011
DOID	DOID:0060537
UMLS	C1855008
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) SDHA \| 6389 \| CLINVAR;CTD_human;ORPHANET;UNIPROT SDHD \| 6392 \| CLINVAR;ORPHANET;UNIPROT SDHB \| 6390 \| ORPHANET SDHAF1 \| 644096 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:6) 6389 \| SDHA \| DISEASES 54949 \| SDHAF2 \| DISEASES 6391 \| SDHC \| DISEASES 6390 \| SDHB \| DISEASES 6392 \| SDHD \| DISEASES 644096 \| SDHAF1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1877
Disease	mitochondrial complex ii deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1877
Disease	mitochondrial complex ii deficiency
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:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1061517	NA	6389	SDHA	umls:C1855008	CLINVAR	NA	0.480271442	NA	SDHA;CCDC127	5	218356	A	C,G
rs137852767	NA	6389	SDHA	umls:C1855008	CLINVAR	NA	0.480271442	NA	SDHA	5	251011	C	T
rs137852768	NA	6389	SDHA	umls:C1855008	CLINVAR	NA	0.480271442	NA	SDHA	5	251338	G	A
rs137853192	NA	644096	SDHAF1	umls:C1855008	CLINVAR	NA	0.48	NA	SDHAF1	19	35995443	G	C
rs137853193	NA	644096	SDHAF1	umls:C1855008	CLINVAR	NA	0.48	NA	SDHAF1	19	35995438	G	A,C
rs151266052	NA	6389	SDHA	umls:C1855008	CLINVAR	NA	0.480271442	NA	SDHA	5	240448	C	T
rs201372601	NA	6392	SDHD	umls:C1855008	CLINVAR	NA	0.360542884	NA	SDHD	11	112094969	G	T
rs202198133	NA	6392	SDHD	umls:C1855008	CLINVAR	NA	0.360542884	NA	SDHD	11	112088902	G	A
rs397514541	NA	6389	SDHA	umls:C1855008	CLINVAR	NA	0.480271442	NA	SDHA	5	240451	C	T
rs786205209	NA	6389	SDHA	umls:C1855008	CLINVAR	NA	0.480271442	NA	SDHA	5	225434	G	C
rs786205210	NA	6389	SDHA	umls:C1855008	CLINVAR	NA	0.480271442	NA	SDHA	5	240474	A	G
rs9809219	NA	6389	SDHA	umls:C1855008	CLINVAR	NA	0.480271442	NA	SDHA	5	251100	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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