PedAM

Pediatric Disease Annotations & Medicines


	hemoglobin e disease

Disease ID	975
Disease	hemoglobin e disease
Definition	A condition characterized by the presence of a variant of normal hemoglobin (hemoglobin E), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule.
Synonym	diseases e haemoglobin haemoglobin e disease haemoglobin e-e disease hb e-disease hb-e disease hemoglobin e disease (disorder) hemoglobin e-e disease homozygous for hb e
Orphanet	ORPHANET:2133
DOID	DOID:5379
UMLS	C0238159
SNOMED-CT	SNOMEDCT_US_2016_09_01:25065001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0034155 \| thrombotic thrombocytopenic purpura \| 1 C0034150 \| purpura \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) HBB \| 3043 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:27) 3049 \| HBQ1 \| DISEASES 10297 \| APC2 \| DISEASES 759 \| CA1 \| DISEASES 6426 \| SRSF1 \| DISEASES 25939 \| SAMHD1 \| DISEASES 10661 \| KLF1 \| DISEASES 6326 \| SCN2A \| DISEASES 3046 \| HBE1 \| DISEASES 55957 \| LIN37 \| DISEASES 7001 \| PRDX2 \| DISEASES 1632 \| ECI1 \| DISEASES 54578 \| UGT1A6 \| DISEASES 54658 \| UGT1A1 \| DISEASES 2147 \| F2 \| DISEASES 3047 \| HBG1 \| DISEASES 3043 \| HBB \| DISEASES 53335 \| BCL11A \| DISEASES 56980 \| PRDM10 \| DISEASES 617 \| BCS1L \| DISEASES 55147 \| RBM23 \| DISEASES 23499 \| MACF1 \| DISEASES 10767 \| HBS1L \| DISEASES 2159 \| F10 \| DISEASES 2623 \| GATA1 \| DISEASES 3045 \| HBD \| DISEASES 831 \| CAST \| DISEASES 7018 \| TF \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) HBB \| 11p15.4

Disease ID	975
Disease	hemoglobin e disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001978 \| Extramedullary hematopoiesis \| 1 HP:0000979 \| Purpura \| 1

Disease ID	975
Disease	hemoglobin e disease
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:0)
(Waiting for update.)

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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