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	glucosephosphate dehydrogenase deficiency

Disease ID	1756
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
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:34) C0002871 \| anemia \| 15 C0002878 \| hemolytic anemia \| 12 C0002871 \| anaemia \| 8 C0024530 \| malaria \| 8 C0002878 \| haemolytic anaemia \| 5 C0024537 \| vivax malaria \| 3 C0025637 \| methaemoglobinaemia \| 2 C0022353 \| neonatal jaundice \| 2 C0025637 \| methemoglobinemia \| 2 C0085293 \| hepatitis e \| 1 C0002312 \| alpha thalassaemia \| 1 C0014544 \| epileptic seizures \| 1 C0026691 \| kawasaki disease \| 1 C0014544 \| epileptic seizure \| 1 C0039730 \| thalassaemia \| 1 C0042721 \| viral hepatitis \| 1 C0282193 \| iron overload \| 1 C0022610 \| kernicterus \| 1 C0162359 \| hypohidrotic ectodermal dysplasia \| 1 C0039730 \| thalassemia \| 1 C0001824 \| granulocytopenia \| 1 C0013575 \| ectodermal dysplasia \| 1 C0004623 \| bacterial infection \| 1 C0024537 \| plasmodium vivax malaria \| 1 C0040188 \| tic disorders \| 1 C0035078 \| renal failure \| 1 C0086543 \| cataracts \| 1 C0022660 \| acute renal failure \| 1 C0033117 \| priapism \| 1 C0032305 \| pneumocystis \| 1 C0032285 \| pneumonia \| 1 C0042769 \| virus infection \| 1 C0018801 \| heart failure \| 1 C0019158 \| hepatitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2539 \| G6PD \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:11) 2539 \| G6PD \| CIPHER;CTD_human 3458 \| IFNG \| CIPHER 3586 \| IL10 \| CIPHER 3569 \| IL6 \| CIPHER 7040 \| TGFB1 \| CIPHER 7124 \| TNF \| CIPHER 54658 \| UGT1A1 \| CIPHER 2147 \| F2 \| CIPHER 2153 \| F5 \| CIPHER 3240 \| HP \| CIPHER 4524 \| MTHFR \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:35) 210 \| ALAD \| 1.795 \| DISEASES 310 \| ANXA7 \| 1.645 \| DISEASES 1192 \| CLIC1 \| 3.88 \| DISEASES 1429 \| CRYZ \| 1.742 \| DISEASES 1555 \| CYP2B6 \| 1.86 \| DISEASES 1557 \| CYP2C19 \| 1.918 \| DISEASES 1558 \| CYP2C8 \| 1.619 \| DISEASES 1565 \| CYP2D6 \| 2.141 \| DISEASES 2035 \| EPB41 \| 1.661 \| DISEASES 2157 \| F8 \| 1.712 \| DISEASES 166752 \| FREM3 \| 3.276 \| DISEASES 2539 \| G6PD \| 4.47 \| DISEASES 2592 \| GALT \| 1.998 \| DISEASES 2638 \| GC \| 1.089 \| DISEASES 2876 \| GPX1 \| 1.125 \| DISEASES 2877 \| GPX2 \| 1.968 \| DISEASES 2878 \| GPX3 \| 1.546 \| DISEASES 2880 \| GPX5 \| 2.834 \| DISEASES 257202 \| GPX6 \| 2.846 \| DISEASES 3043 \| HBB \| 3.341 \| DISEASES 3045 \| HBD \| 2.469 \| DISEASES 3120 \| HLA-DQB2 \| 1.086 \| DISEASES 3240 \| HP \| 4.42 \| DISEASES 10989 \| IMMT \| 2.257 \| DISEASES 3718 \| JAK3 \| 1.097 \| DISEASES 58530 \| LY6G6D \| 3.367 \| DISEASES 5236 \| PGM1 \| 3.317 \| DISEASES 10424 \| PGRMC2 \| 1.386 \| DISEASES 5313 \| PKLR \| 3.011 \| DISEASES 56980 \| PRDM10 \| 1.564 \| DISEASES 51750 \| RTEL1 \| 1.725 \| DISEASES 2030 \| SLC29A1 \| 1.523 \| DISEASES 6708 \| SPTA1 \| 1.338 \| DISEASES 7018 \| TF \| 1.319 \| DISEASES 7499 \| XG \| 4.332 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1756
Disease	glucosephosphate dehydrogenase deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:28) HP:0001903 \| Anemia \| 24 HP:0001878 \| Haemolytic anaemia \| 18 HP:0000952 \| Yellow skin \| 6 HP:0012119 \| Methemoglobinemia \| 2 HP:0100033 \| Tic disorder \| 2 HP:0006579 \| Neonatal jaundice \| 2 HP:0004870 \| hemolytic anemia, chronic \| 2 HP:0002904 \| High blood bilirubin levels \| 2 HP:0000709 \| Psychosis \| 1 HP:0001343 \| Kernicterus \| 1 HP:0006562 \| Viral hepatitis \| 1 HP:0001930 \| Nonspherocytic hemolytic anemia \| 1 HP:0007607 \| Hypohidrotic ectodermal dysplasia \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0002090 \| Pneumonia \| 1 HP:0001913 \| Granulocytopenia \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0200023 \| Priapism \| 1 HP:0000519 \| Cataracts, lenticular, bilateral \| 1 HP:0003265 \| Neonatal hyperbilirubinemia \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0001250 \| Seizures \| 1 HP:0000518 \| Cataract \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0000968 \| Ectodermal dysplasia \| 1 HP:0007529 \| Hidrotic ectodermal dysplasia \| 1 HP:0040187 \| Neonatal sepsis \| 1

Disease ID	1756
Disease	glucosephosphate dehydrogenase deficiency
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:16) C0002871 \| anemia \| 16 C0002878 \| hemolytic anemia \| 13 C0022346 \| jaundice \| 6 C0022353 \| neonatal jaundice \| 2 C0024530 \| malaria \| 2 C0020433 \| hyperbilirubinemia \| 2 C1387528 \| acute hemolytic anemia \| 2 C0857007 \| neonatal hyperbilirubinemia \| 1 C0009450 \| infection \| 1 C0002878 \| haemolytic anaemia \| 1 C0020433 \| hyperbilirubinaemia \| 1 C0022610 \| kernicterus \| 1 C0032285 \| pneumonia \| 1 C1387528 \| acute haemolytic anaemia \| 1 C0086543 \| cataracts \| 1 C0042721 \| viral hepatitis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total 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)
(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.)

Disease ID	1756
Disease	glucosephosphate dehydrogenase deficiency
Case	(Waiting for update.)

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