PedAM

Pediatric Disease Annotations & Medicines


	glucosephosphate dehydrogenase deficiency

Disease ID	1631
Disease	glucosephosphate dehydrogenase deficiency
Definition	A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.
Synonym	anemia g-6-pd deficiency anemia g6pd hemolytic defic glucosephosphate dehydrogenase defic gpd deficiencies, g6pd deficiencies, glucose-6-phosphate dehydrogenase deficiencies, glucosephosphate dehydrogenase deficiencies, gpd deficiency g 6 pd deficiency g6pd deficiency of g-6pd deficiency of glucose 6 phosphate dehydrogenase deficiency of glucose-6-phosphate dehydrogenase deficiency of glucose-6-phosphate dehydrogenase (disorder) deficiency, g6pd deficiency, glucose-6-phosphate dehydrogenase deficiency, glucosephosphate dehydrogenase deficiency, gpd dehydrogenase deficiencies, glucose-6-phosphate dehydrogenase deficiencies, glucosephosphate dehydrogenase deficiency, glucose-6-phosphate dehydrogenase deficiency, glucosephosphate g-6pd deficiency g6pd - glucose-6-phosphate dehydrogenase deficiency g6pd deficiencies g6pd deficiency glucose 6 phosphate dehydrogenase deficiency glucose-6-phosph.dehydr.defic. glucose-6-phosphate dehydrogenase deficiencies glucose-6-phosphate dehydrogenase deficiency glucosephosphate dehydrogenase defic glucosephosphate dehydrogenase deficiencies glucosephosphate dehydrogenase deficiency [disease/finding] gpd defic gpd deficiencies gpd deficiency hemolytic anemia due to g6pd deficiency
DOID	DOID:2862
UMLS	C2939465
MeSH	D005955
SNOMED-CT	SNOMEDCT_US_2016_09_01:124134002
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) G6PD \| 2539 \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:11) 2539 \| G6PD \| infer 3458 \| IFNG \| infer 3586 \| IL10 \| infer 3569 \| IL6 \| infer 7040 \| TGFB1 \| infer 7124 \| TNF \| infer 54658 \| UGT1A1 \| infer 2147 \| F2 \| infer 2153 \| F5 \| infer 3240 \| HP \| infer 4524 \| MTHFR \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:70) 100126791 \| EGOT \| DISEASES 2937 \| GSS \| DISEASES 1666 \| DECR1 \| DISEASES 2936 \| GSR \| DISEASES 55163 \| PNPO \| DISEASES 718 \| C3 \| DISEASES 6779 \| STATH \| DISEASES 25796 \| PGLS \| DISEASES 2538 \| G6PC \| DISEASES 9360 \| PPIG \| DISEASES 1535 \| CYBA \| DISEASES 3938 \| LCT \| DISEASES 3263 \| HPX \| DISEASES 5226 \| PGD \| DISEASES 52 \| ACP1 \| DISEASES 55840 \| EAF2 \| DISEASES 6326 \| SCN2A \| DISEASES 23250 \| ATP11A \| DISEASES 10 \| NAT2 \| DISEASES 7079 \| TIMP4 \| DISEASES 3046 \| HBE1 \| DISEASES 58191 \| CXCL16 \| DISEASES 327 \| APEH \| DISEASES 26585 \| GREM1 \| DISEASES 1548 \| CYP2A6 \| DISEASES 4054 \| LTBP3 \| DISEASES 54578 \| UGT1A6 \| DISEASES 51181 \| DCXR \| DISEASES 5729 \| PTGDR \| DISEASES 84640 \| USP38 \| DISEASES 54658 \| UGT1A1 \| DISEASES 3799 \| KIF5B \| DISEASES 5062 \| PAK2 \| DISEASES 5315 \| PKM \| DISEASES 2193 \| FARSA \| DISEASES 1555 \| CYP2B6 \| DISEASES 166752 \| FREM3 \| DISEASES 3043 \| HBB \| DISEASES 1429 \| CRYZ \| DISEASES 5313 \| PKLR \| DISEASES 2035 \| EPB41 \| DISEASES 3240 \| HP \| DISEASES 56980 \| PRDM10 \| DISEASES 2157 \| F8 \| DISEASES 1565 \| CYP2D6 \| DISEASES 257202 \| GPX6 \| DISEASES 6708 \| SPTA1 \| DISEASES 51750 \| RTEL1 \| DISEASES 5236 \| PGM1 \| DISEASES 1558 \| CYP2C8 \| DISEASES 1557 \| CYP2C19 \| DISEASES 2030 \| SLC29A1 \| DISEASES 310 \| ANXA7 \| DISEASES 1192 \| CLIC1 \| DISEASES 58530 \| LY6G6D \| DISEASES 2592 \| GALT \| DISEASES 3045 \| HBD \| DISEASES 2878 \| GPX3 \| DISEASES 2877 \| GPX2 \| DISEASES 2539 \| G6PD \| DISEASES 7018 \| TF \| DISEASES 210 \| ALAD \| DISEASES 10989 \| IMMT \| DISEASES 3120 \| HLA-DQB2 \| DISEASES 3718 \| JAK3 \| DISEASES 2880 \| GPX5 \| DISEASES 2876 \| GPX1 \| DISEASES 7499 \| XG \| DISEASES 2638 \| GC \| DISEASES 10424 \| PGRMC2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1631
Disease	glucosephosphate dehydrogenase deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1631
Disease	glucosephosphate dehydrogenase 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:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs2071429	9891846	2539	G6PD	umls:C2939465	BeFree	In the present investigation, DNA samples from 17 patients with G6PD deficiency from Tianjin area in North China were studied for the two G6PD common mutations (R459L and R463H) and two single nucleotide polymorphisms (1311C/T and 1365-13T/C) using a dideoxy fingerprinting method.	0.243440631	1998	G6PD	X	154532293	G	A
rs386626658	9891846	2539	G6PD	umls:C2939465	BeFree	In the present investigation, DNA samples from 17 patients with G6PD deficiency from Tianjin area in North China were studied for the two G6PD common mutations (R459L and R463H) and two single nucleotide polymorphisms (1311C/T and 1365-13T/C) using a dideoxy fingerprinting method.	0.243440631	1998	NA	NA	NA	NA	NA
rs72554665	9891846	2539	G6PD	umls:C2939465	BeFree	In the present investigation, DNA samples from 17 patients with G6PD deficiency from Tianjin area in North China were studied for the two G6PD common mutations (R459L and R463H) and two single nucleotide polymorphisms (1311C/T and 1365-13T/C) using a dideoxy fingerprinting method.	0.243440631	1998	G6PD	X	154532269	C	T,G,A

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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