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	factor vii deficiency

Disease ID	618
Disease	factor vii deficiency
Definition	An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII is a Vitamin K dependent glycoprotein essential to the extrinsic pathway of coagulation.
Synonym	defic factor vii deficiencies, factor vii deficiency of stable factor deficiency, factor vii deficiency, stable disorder deficiency vii factor f7 - factor vii deficiency f7 deficiency factor 7 deficiency factor vii defic factor vii deficiencies factor vii deficiency (disorder) factor vii deficiency [disease/finding] factor vii deficiency, nos hypoproconvertinemia hypoproconvertinemias proconvertin deficiency prothrombin conversion accelerator deficiency serum prothrombin conversion accelerator deficiency spca deficiency stable factor deficiency stable factor deficiency, nos
Orphanet	ORPHANET:327
OMIM	OMIM:227500
DOID	DOID:2215
UMLS	C0015503
MeSH	D005168
SNOMED-CT	SNOMEDCT_US_2016_09_01:37193007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0040053 \| thrombosis \| 2 C0023890 \| cirrhosis \| 1 C0023467 \| acute myeloid leukemia \| 1 C0023470 \| myeloid leukemia \| 1 C0023890 \| liver cirrhosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2155 \| F7 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 2155 \| F7 \| CIPHER;CTD_human 2157 \| F8 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:10) 2159 \| F10 \| 1.785 \| DISEASES 2160 \| F11 \| 3.207 \| DISEASES 2152 \| F3 \| 5.231 \| DISEASES 2155 \| F7 \| 7.566 \| DISEASES 2157 \| F8 \| 2.7 \| DISEASES 85476 \| GFM1 \| 2.269 \| DISEASES 3665 \| IRF7 \| 2.251 \| DISEASES 5777 \| PTPN6 \| 1.839 \| DISEASES 462 \| SERPINC1 \| 2.681 \| DISEASES 23038 \| WDTC1 \| 1.159 \| DISEASES
Locus	(Waiting for update.)

Disease ID	618
Disease	factor vii deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0004808 \| Acute myelogenous leukemia \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0001394 \| Hepatic cirrhosis \| 1

Disease ID	618
Disease	factor vii deficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C1366464 \| christmas disease C0917996 \| cerebral aneurysms C0022408 \| arthropathies C0019087 \| hemorrhagic diathesis C0019087 \| haemorrhagic diathesis C0019080 \| hemorrhage C0005779 \| coagulation disorder
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:18)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121964926	18976247	2155	F7	umls:C0015503	UNIPROT	Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.	0.580150169	2009	F7	13	113118698	G	A
rs121964934	NA	2155	F7	umls:C0015503	CLINVAR	NA	0.580150169	NA	F7	13	113118772	T	C,G
rs121964936	12472587	2155	F7	umls:C0015503	UNIPROT	Two double heterozygous mutations in the F7 gene show different manifestations.	0.580150169	2002	F7	13	113118831	T	G
rs121964936	NA	2155	F7	umls:C0015503	CLINVAR	NA	0.580150169	NA	F7	13	113118831	T	G
rs137919286	18976247	2155	F7	umls:C0015503	UNIPROT	Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.	0.580150169	2009	F7	13	113118730	C	T
rs146698837	21902896	2155	F7	umls:C0015503	BeFree	Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and in true factor VII deficiency: a study in homozygotes and heterozygotes.	0.580150169	2011	F7	13	113118584	G	A
rs146795869	18976247	2155	F7	umls:C0015503	UNIPROT	Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.	0.580150169	2009	F7	13	113115689	G	A
rs150525536	18976247	2155	F7	umls:C0015503	UNIPROT	Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.	0.580150169	2009	F7	13	113113946	G	A
rs190485816	18976247	2155	F7	umls:C0015503	UNIPROT	Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.	0.580150169	2009	F7	13	113118778	G	A
rs267606790	NA	2155	F7	umls:C0015503	CLINVAR	NA	0.580150169	NA	F7	13	113116822	C	T
rs36209567	NA	2155	F7	umls:C0015503	CLINVAR	NA	0.580150169	NA	F7	13	113118668	C	T
rs36209567	18976247	2155	F7	umls:C0015503	UNIPROT	Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.	0.580150169	2009	F7	13	113118668	C	T
rs372577568	10937801	2155	F7	umls:C0015503	BeFree	Factor VII R110C: a novel missense mutation (Arg110Cys) in the second epidermal growth factor-like domain causing factor VII deficiency in members of a Japanese family.	0.580150169	2000	F7	13	113116777	T	C
rs387906507	23141848	2155	F7	umls:C0015503	BeFree	Compound heterozygous mutations (p.Leu13Pro and p.Tyr294*) associated with factor VII deficiency cause impaired secretion through ineffective translocation and extensive intracellular degradation of factor VII.	0.580150169	2013	F7	13	113105879	T	C
rs387906507	NA	2155	F7	umls:C0015503	CLINVAR	NA	0.580150169	NA	F7	13	113105879	T	C
rs387906508	NA	2155	F7	umls:C0015503	CLINVAR	NA	0.580150169	NA	F7	13	113118590	T	C
rs45572939	18976247	2155	F7	umls:C0015503	UNIPROT	Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.	0.580150169	2009	F7	13	113110777	T	A
rs786205091	NA	2155	F7	umls:C0015503	CLINVAR	NA	0.580150169	NA	F7	13	113118456	GCGGGTGGCGCAGGTCA	-

GWASdb Annotation(Total Genotypes:9)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
13	113769226	rs3093265	NM_000131,F7	NM_019616,F7	ENST00000346342,ENSG00000057593	ENST00000375581,ENSG00000057593	ENST00000444337,ENSG00000057593	ENST00000479674,ENSG00000057593	ENST00000473085,ENSG00000057593	MCV-3	NA	chr13,113760001,113770000,chr13,113720001,113730000,27,Hi-C	chr13,113760001,113770000,chr13,113070001,113080000,6,Hi-C	chr13,113760001,113770000,chr1,42030001,42040000,8,Hi-C	chr13,113760001,113770000,chr13,114080001,114090000,6,Hi-C	chr13,113760001,113770000,chr13,113590001,113600000,8,Hi-C	NA	Hoxb3_1720,2.8563	Pax4_3989,2.4435	Pho4-primary,1.6157	Pou6f1_1731,1.3982	Rsc3-primary,1.8539	NA	NA	NA	NA	NA	NA	0.001	1.118	1.76	R3	A	NA	NA	NA	0.020
13	113769346	rs491098	NM_000131,F7	NM_019616,F7	ENST00000346342,ENSG00000057593	ENST00000375581,ENSG00000057593	ENST00000444337,ENSG00000057593	ENST00000479674,ENSG00000057593	ENST00000473085,ENSG00000057593	MCV-3	NA	chr13,113760001,113770000,chr13,113720001,113730000,27,Hi-C	chr13,113760001,113770000,chr13,113070001,113080000,6,Hi-C	chr13,113760001,113770000,chr1,42030001,42040000,8,Hi-C	chr13,113760001,113770000,chr13,114080001,114090000,6,Hi-C	chr13,113760001,113770000,chr13,113590001,113600000,8,Hi-C	NA	Gat3-primary,1.2646	Gat4-primary,2.5416	Gat4-primary,2.5723	Sip4-primary,1.3518	Srd1-primary,1.4064	NA	NA	NA	NA	NA	NA	0.000	-1.557	-2.24	TF0	G	NA	NA	NA	NA
13	113769639	rs493833	NM_000131,F7	NM_019616,F7	ENST00000346342,ENSG00000057593	ENST00000375581,ENSG00000057593	ENST00000444337,ENSG00000057593	ENST00000479674,ENSG00000057593	ENST00000473085,ENSG00000057593	NA	NA	chr13,113760001,113770000,chr13,113720001,113730000,27,Hi-C	chr13,113760001,113770000,chr13,113070001,113080000,6,Hi-C	chr13,113760001,113770000,chr1,42030001,42040000,8,Hi-C	chr13,113760001,113770000,chr13,114080001,114090000,6,Hi-C	chr13,113760001,113770000,chr13,113590001,113600000,8,Hi-C	NA	LM31,1.4209	LM42,2.5514	LM75,3.5514	LM76,3.0486	LM94,1.5301	NA	NA	NA	NA	NA	NA	0.001	1.201	1.6	L0	G	NA	NA	NA	NA
13	113770068	rs6042	NM_000131,F7	NM_019616,F7	ENST00000346342,ENSG00000057593	ENST00000375581,ENSG00000057593	ENST00000444337,ENSG00000057593	ENST00000479674,ENSG00000057593	ENST00000473085,ENSG00000057593	NA	NA	chr13,113770001,113780000,chr2,31460001,31470000,9,Hi-C	chr13,113770001,113780000,chr6,51540001,51550000,10,Hi-C	chr13,113770001,113780000,chr1,143120001,143130000,12,Hi-C	chr13,113770001,113780000,chr2,67730001,67740000,6,Hi-C	chr13,113770001,113780000,chr13,114000001,114010000,7,Hi-C	NA	LM2,3.0643	LM6,1.8677	LM146,2.5374	LM146,1.3515	TFAP2A,1.5989	NA	NA	NA	F7,C,A,H,Q,0.216,0.86,0.999329,0.814419	F7,C,G,H,Q,0.216,0.86,0.999329,0.820653	F7,C,A,H,Q,0.216,0.86,0.999329,0.814419	F7,C,G,H,Q,0.216,0.86,0.999329,0.820653	NA	NA	0.004	-1.338	-3.21	TF0	C	NA
13	113770876	rs488703	NM_000131,F7	NM_019616,F7	ENST00000346342,ENSG00000057593	ENST00000375581,ENSG00000057593	ENST00000444337,ENSG00000057593	ENST00000479674,ENSG00000057593	MCV-7	NA	chr13,113770001,113780000,chr2,31460001,31470000,9,Hi-C	chr13,113770001,113780000,chr6,51540001,51550000,10,Hi-C	chr13,113770001,113780000,chr1,143120001,143130000,12,Hi-C	chr13,113770001,113780000,chr2,67730001,67740000,6,Hi-C	chr13,113770001,113780000,chr13,114000001,114010000,7,Hi-C	NA	Asg1-DBD-primary,5.6589	Ceh-22,1.5076	Ceh-22,3.3392	Ceh-22,2.0116	Evx2_2645,1.3799	NA	NA	NA	NA	NA	NA	0.000	-0.538	-2.17	L1	G	NA	NA	NA	0.120	0.050
13	113772707	rs6041	NM_000131,F7	NM_019616,F7	ENST00000346342,ENSG00000057593	ENST00000375581,ENSG00000057593	NA	NA	chr13,113770001,113780000,chr2,31460001,31470000,9,Hi-C	chr13,113770001,113780000,chr6,51540001,51550000,10,Hi-C	chr13,113770001,113780000,chr1,143120001,143130000,12,Hi-C	chr13,113770001,113780000,chr2,67730001,67740000,6,Hi-C	chr13,113770001,113780000,chr13,114000001,114010000,7,Hi-C	NA	LM2,3.0047	LM6,1.8346	LM23,5.5614	LM47,17.8314	LM176,2.7201	NA	NA	NA	NA	NA	NA	0.000	-0.872	-2.7	TF0	G	0.110	0.123	0.103	0.100	0.050	0.120	0.120
13	113772975	rs3093267	NM_000131,F7	NM_019616,F7	ENST00000346342,ENSG00000057593	ENST00000375581,ENSG00000057593	MCV-4	NA	chr13,113770001,113780000,chr2,31460001,31470000,9,Hi-C	chr13,113770001,113780000,chr6,51540001,51550000,10,Hi-C	chr13,113770001,113780000,chr1,143120001,143130000,12,Hi-C	chr13,113770001,113780000,chr2,67730001,67740000,6,Hi-C	chr13,113770001,113780000,chr13,114000001,114010000,7,Hi-C	NA	Aro80-primary,1.6057	Asg1-DBD-primary,1.5513	Cbf1-primary,2.6542	Cbf1-primary,2.35	Cbf1-primary,1.348	NA	NA	NA	F7,G,A,A,T,0.196,0.75,0.914981,0.980558	F7,G,C,A,P,0.346,0.71,0.914981,0.99407	F7,G,T,A,S,0.091,0.58,0.914981,0.949147	F7,G,A,A,T,0.196,0.75,0.914981,0.980558	F7,G,C,A,P,0.346,0.71,0.914981,0.99407	F7,G,T,A,S,0.091,0.58,0.914981,0.949147	NA	NA	0.368	1.100	2.62	TF0	G	0.000	0.000
13	113773159	rs6046	NM_000131,F7	NM_019616,F7	ENST00000346342,ENSG00000057593	ENST00000375581,ENSG00000057593	MCV-6	NA	chr13,113770001,113780000,chr2,31460001,31470000,9,Hi-C	chr13,113770001,113780000,chr6,51540001,51550000,10,Hi-C	chr13,113770001,113780000,chr1,143120001,143130000,12,Hi-C	chr13,113770001,113780000,chr2,67730001,67740000,6,Hi-C	chr13,113770001,113780000,chr13,114000001,114010000,7,Hi-C	NA	Aro80-primary,36.9541	Cbf1-primary,3.4581	Ecm22-primary,3.0952	Evx2_2645,3.2637	Gal4-primary,32.3761	NA	NA	NA	F7,G,A,R,Q,0.035,0.83,0.739136,0.159723	F7,G,C,R,P,0.86,0.98,0.739136,0.577949	F7,G,T,R,L,0.858,0.97,0.739136,0.577949	F7,G,A,R,Q,0.035,0.83,0.739136,0.159723	F7,G,C,R,P,0.86,0.98,0.739136,0.577949	F7,G,T,R,L,0.858,0.97,0.739136,0.577949	NA	NM_000131,TypeII+,CGG->CAG,R->Q,3.143	NM_019616,TypeII+,CGG->CAG,R->Q,3.143	0.135	-0.302	-4.6	R0	G	0.110
13	113774092	rs3093253	NM_000131,F7	NM_019616,F7	ENST00000346342,ENSG00000057593	ENST00000375581,ENSG00000057593	TFP.BCL3	TFP.PBX3	NA	chr13,113770001,113780000,chr2,31460001,31470000,9,Hi-C	chr13,113770001,113780000,chr6,51540001,51550000,10,Hi-C	chr13,113770001,113780000,chr1,143120001,143130000,12,Hi-C	chr13,113770001,113780000,chr2,67730001,67740000,6,Hi-C	chr13,113770001,113780000,chr13,114000001,114010000,7,Hi-C	NA	Bas1-primary,1.5489	Six4_2860,1.7551	LM166,3.6694	Foxa2,3.8686	REST,1.393	hsa-miR-3650,-0.116000	hsa-miR-4310,-0.027000	hsa-miR-7157-5p,-0.027000	NA	NA	NA	NA	NA	0.000	-2.569	-2.66	R3	G	NA	NA	NA	0.090

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	618
Disease	factor vii deficiency
Case	(Waiting for update.)

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