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encyclopedia of Rare Disease Annotation for Precision Medicine

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	factor x deficiency

Disease ID	600
Disease	factor x deficiency
Definition	Blood coagulation disorder usually inherited as an autosomal recessive trait, though it can be acquired. It is characterized by defective activity in both the intrinsic and extrinsic pathways, impaired thromboplastin time, and impaired prothrombin consumption.
Synonym	defic factor x defic stuart prower defic stuart prower factor deficiencies, factor x deficiency, factor x deficiency, stuart prower deficiency, stuart prower factor deficiency, stuart-prower deficiency, stuart-prower factor disease, stuart-prower f10 deficiency factor 10 deficiency factor x defic factor x deficiencies factor x deficiency (disorder) factor x deficiency [disease/finding] factor x deficiency, nos stuart prower defic stuart prower deficiency stuart prower factor defic stuart prower factor deficiency stuart-prower deficiency stuart-prower factor deficiency
Orphanet	ORPHANET:328
OMIM	OMIM:227600
DOID	DOID:2222
UMLS	C0015519
MeSH	D005171
SNOMED-CT	SNOMEDCT_US_2016_09_01:76642003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0002726 \| amyloidosis \| 3 C0027726 \| nephrotic syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2159 \| F10 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:7) 2159 \| F10 \| 5.6 \| DISEASES 2160 \| F11 \| 2.882 \| DISEASES 2152 \| F3 \| 4.674 \| DISEASES 2155 \| F7 \| 4.872 \| DISEASES 9939 \| RBM8A \| 1.731 \| DISEASES 462 \| SERPINC1 \| 1.281 \| DISEASES 677833 \| SNORA54 \| 3.27 \| DISEASES
Locus	(Waiting for update.)

Disease ID	600
Disease	factor x deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0011034 \| Amyloid disease \| 3 HP:0001892 \| Bleeding diathesis \| 2 HP:0011947 \| Respiratory infection \| 1 HP:0100310 \| Extradural hematoma \| 1 HP:0000100 \| Nephrosis \| 1

Disease ID	600
Disease	factor x deficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C0281479 \| systemic amyloidosis C0268381 \| primary amyloidosis C0019087 \| hemorrhagic diathesis C0019087 \| haemorrhagic diathesis C0002726 \| amyloidosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0002726 \| amyloidosis \| 3 C0268380 \| systemic amyloidosis \| 1

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

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

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894392	NA	2159	F10	umls:C0015519	CLINVAR	NA	0.566263026	NA	F10;LOC102724474	13	113149146	C	T
rs121964948	NA	2159	F10	umls:C0015519	CLINVAR	NA	0.566263026	NA	F10	13	113147490	A	T
rs199778916	12945883	2159	F10	umls:C0015519	UNIPROT	A novel type I factor X variant (factor X Cys350Phe) due to loss of a disulfide bond in the catalytic domain.	0.566263026	2003	F10;LOC102724474	13	113149219	G	T
rs387906506	NA	2159	F10	umls:C0015519	CLINVAR	NA	0.566263026	NA	F10	13	113147444	C	-
rs61753266	NA	2159	F10	umls:C0015519	CLINVAR	NA	0.566263026	NA	F10	13	113140972	G	A

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	113780041	rs556694	NM_000504,F10	ENST00000375551,ENSG00000126218	ENST00000409306,ENSG00000126218	ENST00000375559,ENSG00000126218	ENST00000477269,ENSG00000126218	ENST00000483537,ENSG00000126218	ENST00000410083,ENSG00000126218	NA	NA	chr13,113780001,113790000,chr13,112960001,112970000,31,Hi-C	NA	Aro80-primary,1.7261	Aro80-primary,6.1937	Asg1-DBD-primary,1.5003	Bas1-primary,4.647	Cep3-primary,2.4913	NA	NA	NA	NA	NA	NA	0.007	0.514	0.505	TF0	C	NA	NA	NA	NA	NA	NA	NA	NA
13	113780910	rs474810	NM_000504,F10	ENST00000375551,ENSG00000126218	ENST00000409306,ENSG00000126218	ENST00000375559,ENSG00000126218	ENST00000477269,ENSG00000126218	ENST00000483537,ENSG00000126218	ENST00000410083,ENSG00000126218	NA	NA	chr13,113780001,113790000,chr13,112960001,112970000,31,Hi-C	NA	Stb3-FL-primary,1.6724	Stp4-FL-primary,4.0495	Tbf1-DBD-primary,1.4609	Ydr520c-primary,2.1073	Yrm1-primary,1.5113	NA	NA	NA	NA	NA	NA	0.001	0.607	0.635	R3	C	NA	NA	NA	NA	NA	NA	NA	NA
13	113781018	rs3211727	NM_000504,F10	ENST00000375551,ENSG00000126218	ENST00000409306,ENSG00000126218	ENST00000375559,ENSG00000126218	ENST00000477269,ENSG00000126218	ENST00000483537,ENSG00000126218	ENST00000410083,ENSG00000126218	NA	NA	chr13,113780001,113790000,chr13,112960001,112970000,31,Hi-C	NA	Cep3-primary,2.0816	Mga1-primary,1.7722	Oaf1-DBD-primary,3.3919	Rap1-FL-primary,2.3697	Rds1-primary,3.2611	NA	NA	NA	NA	NA	NA	0.000	-0.132	-0.246	TF0	G	NA	NA	NA	0.230	0.370	0.290	0.020	0.240
13	113781942	rs776905	NM_000504,F10	ENST00000375551,ENSG00000126218	ENST00000409306,ENSG00000126218	ENST00000375559,ENSG00000126218	ENST00000477269,ENSG00000126218	ENST00000483537,ENSG00000126218	ENST00000410083,ENSG00000126218	ENST00000424635,ENSG00000231882	NA	NA	chr13,113780001,113790000,chr13,112960001,112970000,31,Hi-C	NA	Cdx1_2245,1.3981	Cdx2_4272,1.7202	Cphx_3484,1.723	Dlx5_3419,2.7672	Emx2_3420,2.0977	NA	NA	NA	NA	NA	NA	0.000	-0.217	-1.29	F1	A	NA	NA	NA	0.070	0.010	0.080	0.070
13	113784588	rs776906	NM_000504,F10	ENST00000375551,ENSG00000126218	ENST00000409306,ENSG00000126218	ENST00000375559,ENSG00000126218	ENST00000477269,ENSG00000126218	ENST00000483537,ENSG00000126218	ENST00000410083,ENSG00000126218	ENST00000415696,ENSG00000230371	CHMM	MCV-12	NA	chr13,113780001,113790000,chr13,112960001,112970000,31,Hi-C	NA	LM7,1.2785	LM7,1.6625	LM129,2.2661	LM135,1.4903	LM146,1.2974	NA	NA	NA	NA	NA	NA	0.002	-0.268	-0.705	TF0	A	NA	NA	NA	NA	NA	NA
13	113784720	rs2480946	NM_000504,F10	ENST00000375551,ENSG00000126218	ENST00000409306,ENSG00000126218	ENST00000375559,ENSG00000126218	ENST00000477269,ENSG00000126218	ENST00000483537,ENSG00000126218	ENST00000410083,ENSG00000126218	ENST00000415696,ENSG00000230371	CHMM	MCV-3	NA	chr13,113780001,113790000,chr13,112960001,112970000,31,Hi-C	NA	Cbf1-primary,2.2187	Ecm22-primary,2.1353	Mbp1-primary,39.679	Pdr1-DBD-primary,3.0098	Rdr1-DBD-primary,3.2793	NA	NA	NA	NA	NA	NA	0.008	0.118	0.411	R3	G	NA	NA	NA	NA	NA	NA
13	113792893	rs2026160	NM_000504,F10	ENST00000375551,ENSG00000126218	ENST00000409306,ENSG00000126218	ENST00000375559,ENSG00000126218	ENST00000477269,ENSG00000126218	ENST00000410083,ENSG00000126218	NA	NA	NA	NA	LM12,2.1692	LM48,1.402	LM88,2.0223	LM184,6.1207	at_AC_acceptor,1.8452	NA	NA	NA	NA	NA	NA	0.000	0.063	0.0289	F0	A	NA	NA	NA	0.740	0.870	0.770	0.590	0.730	Transcript
13	113793849	rs3211770	NM_000504,F10	ENST00000375551,ENSG00000126218	ENST00000409306,ENSG00000126218	ENST00000375559,ENSG00000126218	ENST00000477269,ENSG00000126218	ENST00000410083,ENSG00000126218	ENST00000498455,ENSG00000126218	TFP.TCF4	TFP.BHLHE40	TFP.FOXA1	TFP.EP300	TFP.FOXA2	TFP.HDAC2	TFP.RAD21	TFP.HNF4A	TFP.FOSL2	TFP.SP1	TFP.RXRA	TFP.SIN3A	TFP.JUND	TFP.ELF1	TFP.TCF12	CHMM	SP1_disc3_8mer,SP1	SP1_known2_8mer,SP1	p300_disc5_8mer,EP300	NA	NA	LM195,2.2285	LM221,1.8661	HMG-IY,2.294	MZF1_1-4,3.0783	MZF1_5-13,3.3155	NA	NA
13	113794301	rs7337258	NM_000504,F10	ENST00000375551,ENSG00000126218	ENST00000409306,ENSG00000126218	ENST00000375559,ENSG00000126218	ENST00000477269,ENSG00000126218	ENST00000410083,ENSG00000126218	ENST00000498455,ENSG00000126218	TFP.TCF4	TFP.FOXA1	TFP.HNF4A	NA	NA	NA	Alx4_1744,1.6202	Cdx1_2245,1.773	Crx_3485,2.9393	Cutl1_3494,27.9793	Dbx1_3486,1.763	NA	NA	NA	NA	NA	NA	0.002	-0.088	-0.783	F0	G	NA	NA	NA	0.020	NA	0.010

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	600
Disease	factor x deficiency
Case	(Waiting for update.)

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