PedAM

Pediatric Disease Annotations & Medicines


	hypoprothrombinemia

Disease ID	579
Disease	hypoprothrombinemia
Definition	Absence or reduced levels of PROTHROMBIN in the blood.
Synonym	defic factor ii deficiencies, factor ii deficiencies, prothrombin deficiency, factor ii deficiency, prothrombin factor ii defic factor ii deficiencies factor ii deficiency hypoprothrombinemias hypoprothrombinemias [disease/finding] inherited factor ii deficiency prothrombin defic prothrombin deficiencies prothrombin deficiency prothrombin deficiency, congenital
OMIM	OMIM:613679
DOID	DOID:2235
UMLS	C0020640
MeSH	D007020
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0002871 \| anemia \| 1 C0677607 \| hashimoto's thyroiditis \| 1 C0040147 \| thyroiditis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) F2 \| 2147 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:12) 350 \| APOH \| DISEASES 2158 \| F9 \| DISEASES 7035 \| TFPI \| DISEASES 2147 \| F2 \| DISEASES 2152 \| F3 \| DISEASES 2224 \| FDPS \| DISEASES 2157 \| F8 \| DISEASES 462 \| SERPINC1 \| DISEASES 2153 \| F5 \| DISEASES 2155 \| F7 \| DISEASES 10673 \| TNFSF13B \| DISEASES 2160 \| F11 \| DISEASES
Locus	(Waiting for update.)

Disease ID	579
Disease	hypoprothrombinemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0008151 \| Prolonged prothrombin time \| 1 HP:0001903 \| Anemia \| 1 HP:0002240 \| Enlarged liver \| 1 HP:0100646 \| Thyroiditis \| 1

Disease ID	579
Disease	hypoprothrombinemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C1142517 \| lupus anticoagulant C0019209 \| hepatomegaly C0019080 \| hemorrhage
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0085240 \| lupus anticoagulant \| 1 C0019209 \| hepatomegaly \| 1

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs387906522	NA	2147	F2	umls:C0020640	CLINVAR	NA	0.494068827	NA	F2	11	46723421	-	T
rs62623459	22028381	2147	F2	umls:C0020640	UNIPROT	Quantitative detection of single amino acid polymorphisms by targeted proteomics.	0.494068827	2011	F2	11	46725897	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.)

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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