PedAM

Pediatric Disease Annotations & Medicines


	refractory anemia

Disease ID	1472
Disease	refractory anemia
Definition	A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy.
Synonym	anemia refractory anemia, refractory anemia, refractory [disease/finding] anemias, refractory aregenerative anemia ra refractory anaemia refractory anaemia (disorder) refractory anaemia -retired- refractory anemia (disorder) refractory anemia (morphologic abnormality) refractory anemia (ra) refractory anemia -retired- refractory anemia, nos refractory anemias
Orphanet	ORPHANET:98826 ORPHANET:101096
OMIM	OMIM:180300
UMLS	C0002893
MeSH	D000753
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0026986 \| myelodysplastic syndrome \| 11 C0026986 \| myelodysplastic syndromes \| 4 C0019114 \| hemosiderosis \| 1 C0282193 \| iron overload \| 1 C0014084 \| ollier's disease \| 1 C0152095 \| trisomy 13 \| 1 C0023449 \| acute lymphoblastic leukemia \| 1 C0598894 \| monocytic leukemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) TNF \| 7124 \| CTD_human TET2 \| 54790 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1472
Disease	refractory anemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0002863 \| Myelodysplastic syndrome \| 11 HP:0010972 \| Anemia of inadequate production \| 1 HP:0006721 \| Acute lymphocytic leukemia \| 1 HP:0002664 \| Neoplasia \| 1 HP:0100252 \| Diaphyseal dysplasia \| 1 HP:0012325 \| Chronic myelomonocytic leukemia \| 1

Disease ID	1472
Disease	refractory anemia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0026986 \| myelodysplastic syndrome \| 11 C0282193 \| iron overload \| 1 C0023449 \| acute lymphoblastic leukemia \| 1 C0019114 \| hemosiderosis \| 1

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

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs386626619	23594705	23451	SF3B1	umls:C0002893	BeFree	Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.	0.002985861	2013	NA	NA	NA	NA	NA
rs386626619	20194893	3717	JAK2	umls:C0002893	BeFree	Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis.	0.011354408	2010	NA	NA	NA	NA	NA
rs386626619	23594705	10992	SF3B2	umls:C0002893	BeFree	Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.	0.002171535	2013	NA	NA	NA	NA	NA
rs386626619	23594705	3717	JAK2	umls:C0002893	BeFree	Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.	0.011354408	2013	NA	NA	NA	NA	NA
rs77375493	20194893	3717	JAK2	umls:C0002893	BeFree	Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis.	0.011354408	2010	JAK2;INSL6	9	5073770	G	A,T
rs77375493	23594705	3717	JAK2	umls:C0002893	BeFree	Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.	0.011354408	2013	JAK2;INSL6	9	5073770	G	A,T
rs77375493	23594705	23451	SF3B1	umls:C0002893	BeFree	Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.	0.002985861	2013	JAK2;INSL6	9	5073770	G	A,T
rs77375493	23594705	10992	SF3B2	umls:C0002893	BeFree	Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.	0.002171535	2013	JAK2;INSL6	9	5073770	G	A,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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