PedAM

Pediatric Disease Annotations & Medicines


	afibrinogenemia

Disease ID	978
Disease	afibrinogenemia
Definition	A deficiency or absence of FIBRINOGEN in the blood.
Synonym	afibrinogenaemia afibrinogenemia (disorder) afibrinogenemia [disease/finding] afibrinogenemias defic fibrinogen deficiency factor i deficiency, factor i deficiency, fibrinogen factor i deficiency factor i deficiency, complete fibrinogen defic fibrinogen deficiencies fibrinogen deficiency fibrinogen deficiency (disorder)
DOID	DOID:2236
UMLS	C0001733
MeSH	D000347
SNOMED-CT	SNOMEDCT_US_2016_09_01:278504009;SNOMEDCT_US_2016_09_01:359727008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0040053 \| thrombosis \| 1 C0042345 \| varices \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) ABCB11 \| 8647 \| CTD_human FGB \| 2244 \| CTD_human FGA \| 2243 \| CTD_human CFI \| 3426 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	978
Disease	afibrinogenemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001907 \| Thromboembolic disease \| 1 HP:0012223 \| Ruptured spleen \| 1

Disease ID	978
Disease	afibrinogenemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C0796095 \| c syndrome C0542007 \| cerebral hematoma C0338586 \| vertebral artery dissection C0019080 \| hemorrhage C0000786 \| miscarriage
Text Mined Symptom	(Waiting for update.)

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
rs121964912	NA	3426	CFI	umls:C0001733	CLINVAR	NA	0.120542884	NA	CFI	4	109746398	T	A
rs121964916	NA	3426	CFI	umls:C0001733	CLINVAR	NA	0.120542884	NA	CFI	4	109760567	C	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.)

Web
Analytics