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encyclopedia of Rare Disease Annotation for Precision Medicine

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	antithrombin deficiency

Disease ID	572
Disease	antithrombin deficiency
Definition	An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis.
Synonym	anti-thrombin iii deficiency antithombin iii deficiency antithrombin 3 defic antithrombin 3 deficiencies antithrombin 3 deficiency antithrombin deficiencies antithrombin iii defic antithrombin iii deficiencies antithrombin iii deficiency antithrombin iii deficiency (disorder) antithrombin iii deficiency [disease/finding] at deficiency - antithrombin deficiency at3d defic antithrombin iii deficiencies, antithrombin 3 deficiencies, antithrombin iii deficiency, antithrombin 3 deficiency, antithrombin iii reduced antithrombin iii activity thph7 thrombophilia due to antithrombin iii deficiency
OMIM	OMIM:613118
DOID	DOID:3755
UMLS	C0272375
MeSH	D020152
SNOMED-CT	SNOMEDCT_US_2016_09_01:36351005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0040053 \| thrombosis \| 6 C0027051 \| myocardial infarct \| 1 C0035078 \| renal failure \| 1 C0000786 \| miscarriage \| 1 C0085278 \| antiphospholipid syndrome \| 1 C0018916 \| hemangioma \| 1 C0022661 \| end-stage renal failure \| 1 C0027051 \| myocardial infarction \| 1 C0398623 \| thrombophilia \| 1 C0042345 \| varices \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 462 \| SERPINC1 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:16) 2 \| A2M \| 1.52 \| DISEASES 26027 \| ACOT11 \| 2.247 \| DISEASES 114899 \| C1QTNF3 \| 3.402 \| DISEASES 959 \| CD40LG \| 1.202 \| DISEASES 132884 \| EVC2 \| 1.511 \| DISEASES 2165 \| F13B \| 2.062 \| DISEASES 2152 \| F3 \| 2.785 \| DISEASES 2153 \| F5 \| 3.26 \| DISEASES 2155 \| F7 \| 1.908 \| DISEASES 4524 \| MTHFR \| 4.219 \| DISEASES 5230 \| PGK1 \| 1.07 \| DISEASES 5265 \| SERPINA1 \| 1.987 \| DISEASES 462 \| SERPINC1 \| 7.436 \| DISEASES 5345 \| SERPINF2 \| 3.401 \| DISEASES 788 \| SLC25A20 \| 1.631 \| DISEASES 7178 \| TPT1 \| 1.112 \| DISEASES
Locus	(Waiting for update.)

Disease ID	572
Disease	antithrombin deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0001907 \| Thromboembolic disease \| 3 HP:0001297 \| Cerebral vascular events \| 2 HP:0004420 \| Arterial thrombosis \| 2 HP:0001658 \| Myocardial infarction \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0001028 \| Strawberry mark \| 1 HP:0100724 \| Hypercoagulability \| 1 HP:0003774 \| End-stage renal failure \| 1

Disease ID	572
Disease	antithrombin deficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C1861171 \| apc resistance C0854142 \| aortic thrombosis C0341426 \| small bowel infarction C0162529 \| ischemic colitis C0040038 \| thromboembolism C0035328 \| retinal vein occlusion C0020545 \| renovascular hypertension C0000786 \| miscarriages
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0040038 \| thromboembolism \| 3 C0040053 \| thrombosis \| 2 C0151942 \| arterial thrombosis \| 1 C0854142 \| aortic thrombosis \| 1

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

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

All Snps(Total Genotypes:36)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909546	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173903978	C	T
rs121909547	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173914726	G	T,A
rs121909548	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173904038	C	G,A
rs121909548	1906811	462	SERPINC1	umls:C0272375	UNIPROT	Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins.	0.568805692	1991	SERPINC1	1	173904038	C	G,A
rs121909549	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173904010	C	T,G
rs121909550	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173904007	G	A
rs121909551	23910795	462	SERPINC1	umls:C0272375	UNIPROT	Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.	0.568805692	2013	SERPINC1	1	173914743	G	A
rs121909552	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173914725	C	T
rs121909552	7981186	462	SERPINC1	umls:C0272375	UNIPROT	Three novel mutations of antithrombin inducing high-molecular-mass compounds.	0.568805692	1994	SERPINC1	1	173914725	C	T
rs121909554	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173904011	G	A
rs121909554	23910795	462	SERPINC1	umls:C0272375	UNIPROT	Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.	0.568805692	2013	SERPINC1	1	173904011	G	A
rs121909555	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173903968	G	A
rs121909557	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173904044	C	T
rs121909558	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173914845	A	T
rs121909560	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173909737	CT	-
rs121909561	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173909681	CATC	-
rs121909562	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173911942	G	A
rs121909563	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173911941	C	T,A
rs121909564	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173903902	G	A
rs121909565	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173909564	A	G
rs121909566	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173904013	C	T
rs121909567	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173914570	G	A
rs121909568	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173904028	G	A
rs121909569	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173911981	A	G
rs121909570	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173911923	T	G
rs121909571	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173910861	T	C
rs121909572	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173910849	A	G
rs121909573	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173914582	A	G
rs147266200	9031473	462	SERPINC1	umls:C0272375	UNIPROT	Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.	0.568805692	1997	SERPINC1	1	173914696	G	A
rs2227624	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173914872	A	T
rs28929468	9031473	462	SERPINC1	umls:C0272375	UNIPROT	Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.	0.568805692	1997	NA	NA	NA	NA	NA
rs28929469	2365065	462	SERPINC1	umls:C0272375	UNIPROT	Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.	0.568805692	1990	SERPINC1	1	173914795	G	A
rs28929469	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173914795	G	A
rs28930978	9031473	462	SERPINC1	umls:C0272375	UNIPROT	Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.	0.568805692	1997	NA	NA	NA	NA	NA
rs387906575	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173914893	A	G
rs786204063	NA	462	SERPINC1	umls:C0272375	CLINVAR	NA	0.568805692	NA	SERPINC1	1	173911959	AAG	-

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.)

Disease ID	572
Disease	antithrombin deficiency
Case	(Waiting for update.)