blood coagulation disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	blood coagulation disease	go back to main search page
Accession:	DOID:1247	browse the term
Definition:	A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. (DO)
Synonyms:	exact_synonym:	ABNORMALITY OF COAGULATION; blood coagulation disorder; blood coagulation disorders; postpartum coagulation defect; postpartum coagulation defect with delivery
	narrow_synonym:	protein Z deficiency
	related_synonym:	FIBRINOGEN MILANO XII, DIGENIC
	primary_id:	MESH:D001778
	alt_id:	DOID:2212
	xref:	EFO:0009314; ICD10CM:D68.9; ICD9CM:286; NCI:C2902
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (1448) Mouse (1543) Human (36695) Chinchilla (1283) Bonobo (1445) Dog (1409) Squirrel (1323) Pig (1380) Green Monkey (1402) Naked Mole-rat (1270) All
Genes (1435) Strains (11) Cell Lines (2)

blood coagulation disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor X

CTD Direct Evidence: marker/mechanism

NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

coagulation factor V

CTD Direct Evidence: marker/mechanism

NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317

G

coagulation factor VII

ClinVar Annotator: match by term: Abnormality of coagulation

PMID:8844208 PMID:25741868 PMID:28492532 PMID:31064749

NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610

G

coagulation factor VIII

ClinVar Annotator: match by term: Abnormality of coagulation

PMID:1301932 PMID:8485051 PMID:18691168 PMID:20148980 PMID:22103590 More...

NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857

G

coagulation factor IX

ClinVar Annotator: match by term: Abnormality of coagulation

PMID:1972560 PMID:2066105 PMID:8091381 PMID:23093250 PMID:24219067 More...

NCBI chr X:138,352,334...138,396,835
Ensembl chr X:138,352,298...138,396,835

G

fibrinogen gamma chain

ClinVar Annotator: match by term: Fibrinogen Milano XII, digenic

PMID:11435303 PMID:25741868 PMID:28492532 PMID:31064749 PMID:33059327

NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322

G

gamma-glutamyl carboxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063

G

G protein subunit alpha q

CTD Direct Evidence: marker/mechanism

NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

PCI domain containing 2

ClinVar Annotator: match by term: Protein Z deficiency

NCBI chr16:76,423,245...76,448,712
Ensembl chr16:76,423,245...76,448,712

G

plasminogen activator, tissue type

protein:increased expression:plasma (human)

RGD

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

G

protein C, inactivator of coagulation factors Va and VIIIa

RGD

NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133

G

protein S

RGD

NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286

G

protein Z, vitamin K-dependent plasma glycoprotein

severity

ClinVar Annotator: match by term: Protein Z deficiency

PMID:15626740 PMID:10829076

NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480

G

serpin family C member 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293

G

vitamin K epoxide reductase complex, subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008

G

von Willebrand factor

ClinVar Annotator: match by term: Abnormality of coagulation

PMID:1419803 PMID:1557393 PMID:1581215 PMID:1672694 PMID:1832934 More...

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

Acquired Protein C Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serpin family E member 1

associated with Sepsis;protein:increased activity:lung (rat)

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

Acute Traumatic Coagulopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

plasminogen activator, tissue type

treatment

protein:increased expression:serum (rat)

RGD

PMID:25325345 PMID:25676919

RGD:11554179, RGD:11554180

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

alpha-2-plasmin inhibitor deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serpin family F member 2

ClinVar Annotator: match by term: Alpha-2-plasmin inhibitor deficiency | ClinVar Annotator: match by term: SERPINF2-related condition
OMIM:262850
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:2496145 PMID:7095605 PMID:10583218 PMID:25741868 PMID:28492532

NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243

antithrombin III deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain 45

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:73,424,766...73,450,466
Ensembl chr13:73,424,480...73,450,466

G

calcyclin binding protein

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177

G

centromere protein L

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114

G

COP1, E3 ubiquitin ligase

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:71,467,164...71,561,826
Ensembl chr13:71,429,961...71,538,890

G

aspartyl-tRNA synthetase 2 (mitochondrial)

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934

G

growth arrest specific 5

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:73,303,611...73,306,932

G

G protein-coupled receptor 52

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:72,800,265...72,804,989
Ensembl chr13:72,800,127...72,806,180

G

KIAA0040 ortholog

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:72,274,519...72,312,103
Ensembl chr13:72,274,552...72,312,103

G

kelch-like family member 20

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:73,363,451...73,408,293
Ensembl chr13:73,363,455...73,408,337

G

mitochondrial ribosomal protein S14

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915

G

peroxiredoxin 6

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355

G

RAB GTPase activating protein 1-like

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984

G

ring finger and CCCH-type domains 1

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

PMID:3663935 PMID:10823268 PMID:16956830 PMID:21264449 PMID:24889358 More...

NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839

G

small Cajal body-specific RNA 3

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 6:99,222,432...99,222,521
Ensembl chr 6:99,222,432...99,222,521

G

serpin family C member 1

susceptibility

ClinVar Annotator: match by term: Hereditary antithrombin deficiency | ClinVar Annotator: match by term: Reduced antithrombin III activity
OMIM:613118
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:1325679 PMID:1360174 PMID:1421387 PMID:1469094 PMID:1483705 More...

NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293

G

solute carrier family 9, member C2 (putative)

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:73,424,683...73,524,244
Ensembl chr13:73,451,115...73,524,239

G

testis expressed 50

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:73,433,375...73,438,787
Ensembl chr13:73,433,384...73,438,792

G

TNF superfamily member 18

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169

G

TNF superfamily member 4

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788

G

tenascin N

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:72,319,160...72,386,362
Ensembl chr13:72,319,155...72,408,156

G

tenascin R

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641

G

zinc finger and BTB domain containing 37

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124

atypical hemolytic-uremic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif, 13

protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 More...

NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687

G

bile acid CoA:amino acid N-acyltransferase

ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1

PMID:17182750 PMID:20301541

NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685

G

C1GALT1-specific chaperone 1

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:36599939

NCBI chr X:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787

G

complement C2

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More...

NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505

G

complement C3

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)

OMIM
ClinVar
CTD
RGD

PMID:1879662 PMID:1976733 PMID:9536098 PMID:12462331 PMID:14639503 More...

RGD:7364995, RGD:11040768

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C3a receptor 1

ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1

NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701

G

CD46 molecule

severity
susceptibility

DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)

ClinVar
OMIM
CTD
RGD

PMID:270646 PMID:2431077 PMID:3480783 PMID:9536098 PMID:9551389 More...

RGD:11038684, RGD:11352810, RGD:11040768, RGD:11352768

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

G

centrosomal protein 290

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25439097 PMID:25741868 PMID:28224992 PMID:28492532 PMID:29482223 More...

NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392

G

complement factor B

DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple

OMIM
ClinVar
CTD
RGD

PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More...

RGD:7242707, RGD:11040768

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

complement factor H

DNA:missense mutation
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
DNA:deletion:Cds:
DNA:SNPs,Haplotype::

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:646435 PMID:3418956 PMID:8072530 PMID:9536098 PMID:9551389 More...

RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

complement factor H-related 1

susceptibility

DNA:deletion
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD
RGD

PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More...

NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592

G

complement factor H-related 4

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:28492532

NCBI chr13:51,422,592...51,491,476
Ensembl chr13:51,422,592...51,491,502

G

complement factor I

susceptibility

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

OMIM
ClinVar
CTD
RGD

PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More...

NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:11134255 PMID:12028435 PMID:24033266 PMID:25741868 PMID:26467025 More...

NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More...

NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More...

NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692

G

diacylglycerol kinase epsilon

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1

PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More...

NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100

G

hemoglobin subunit beta

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868

NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012

G

laminin subunit beta 2

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:28492532

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

G

metabolism of cobalamin associated C

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More...

NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601

G

myosin, heavy chain 9

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

G

NLR family, pyrin domain containing 3

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:28492532

NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811

G

nephrocystin 3

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:26184788 PMID:28492532

NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383

G

nephrocystin 4

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:28492532

NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706

G

phospholipase A2 receptor 1

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

NCBI chr 3:44,883,943...45,013,793
Ensembl chr 3:44,883,943...45,013,660

G

plasminogen

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:28492532

NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786

G

SNF2 related chromatin remodeling annealing helicase 1

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:28492532 PMID:28844315

NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146

G

thrombomodulin

severity
no_association

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: THBD-related condition
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple

OMIM
ClinVar
CTD
RGD

PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 More...

RGD:11038684, RGD:11038691, RGD:11038691

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

G

transmembrane protein 67

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:25741868 PMID:28492532

NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334

G

transient receptor potential cation channel, subfamily C, member 6

ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5

PMID:19380626 PMID:25741868

NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092

G

WT1 transcription factor

ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome

PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 More...

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

autoimmune thrombocytopenic purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif, 13

CTD Direct Evidence: marker/mechanism

NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687

G

albumin

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

CD40 molecule

protein:increased expression:peripheral blood, B lymphocyte (human)

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

treatment

protein:increased expression:peripheral blood, T lymphocyte (human)
protein:decreased expression:serum (mouse)

RGD

PMID:17654056 PMID:22537155 PMID:18341638 PMID:16188945

RGD:11344977, RGD:11352267, RGD:11352237, RGD:11344980

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

CD86 molecule

treatment

protein:increased expression:peripheral blood mononuclear cell (human)

RGD

PMID:19379594 PMID:20581660

RGD:11354966, RGD:11520785

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

DNA methyltransferase 3 alpha

mRNA:decreased expression:mononuclear cell

RGD

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

DNA methyltransferase 3 beta

susceptibility

mRNA:decreased expression:mononuclear cell
DNA:SNP:promoter: -579G>T(human)

RGD

PMID:18683034 PMID:23000068

RGD:9588662, RGD:9589094

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

Fas cell surface death receptor

protein:increased expression:serum:

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fc gamma receptor 2A

no_association
susceptibility
treatment

DNA:SNP:cds:p.R131H (human)

RGD

PMID:20699442 PMID:23249566 PMID:22123287 PMID:21131591

RGD:11040883, RGD:11040990, RGD:11040989, RGD:11040933

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 2B

treatment
disease_progression

DNA:SNP: :p.I232T (human)

RGD

PMID:21131591 PMID:21045192 PMID:22257295 PMID:15566359 PMID:19549396

RGD:11040933, RGD:11344955, RGD:11344931, RGD:11344928, RGD:11344927

NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778

G

Fc gamma receptor 3A

treatment
susceptibility

DNA:SNP:cds:p.V158F(human)
DNA:SNP:exon:p.F158V (rs396991) (human)

RGD

PMID:11380443 PMID:23484707 PMID:22123287 PMID:15479722

RGD:11040776, RGD:11352255, RGD:11040989, RGD:11344926

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

glycoprotein Ib platelet subunit alpha

RGD

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

G

interleukin 10

disease_progression

DNA:SNP:promoter:-627C>A (human)
DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)

RGD

PMID:25051072 PMID:22677268

RGD:11041894, RGD:11046267

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 18

protein:increased expression:plasma:

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 alpha

DNA:SNP:promoter:-899C>T (human)

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 receptor antagonist

susceptibility

DNA:repeats::

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

susceptibility

DNA:polymorphism::-330T>G(human)

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 4

disease_progression

DNA:repeat:intron

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

integrin subunit beta 3

RGD

PMID:10936026 PMID:24258817

RGD:10755473, RGD:10755475

NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

G

microRNA 130a

RNA:decreased expression:PBMC

RGD

NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629

G

microRNA 3581

treatment

RGD

NCBI chr 6:128,757,779...128,757,858
Ensembl chr 6:128,757,779...128,757,858

G

microRNA 409

treatment

NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858

G

plasminogen activator, tissue type

protein:increased expression:plasma (human)

RGD

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

G

protein tyrosine phosphatase, non-receptor type 22

no_association

DNA: snp: cds: C1858T
DNA:snp:cds:c.1858C>T (rs2476601) (human)

RGD

PMID:21597364 PMID:27309885

RGD:6484673, RGD:11535019

NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779

G

RT1 class II, locus Bb

treatment

DNA:polymorphisms:cds:HLA-DQB1*0401 (human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

treatment

DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human)

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

suppressor of cytokine signaling 1

ClinVar Annotator: match by term: Autoimmune thrombocytopenia | ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura

PMID:32853638 PMID:33087723

NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383

G

transforming growth factor, beta 1

disease_progression

mRNA:increased expression: :
protein:decreased expression:plasma:

RGD

PMID:11886393 PMID:24763013 PMID:24801815

RGD:11073598, RGD:11073603, RGD:11073600

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

autosomal dominant isolated macrothrombocytopenia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin, beta 1 class VI

ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant | ClinVar Annotator: match by term: TUBB1-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:4516618 PMID:18849486 PMID:24344610 PMID:24777453 PMID:25741868 More...

NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063

autosomal dominant isolated macrothrombocytopenia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin, alpha 8

ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant | ClinVar Annotator: match by term: TUBA8-related condition

PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34704371

NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917

autosomal dominant nonsyndromic deafness 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin, heavy chain 9

ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More...

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

autosomal dominant thrombophilia due to protein C deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AMMECR1 like

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr18:23,386,114...23,411,177
Ensembl chr18:23,386,903...23,410,920

G

bridging integrator 1

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263

G

ERCC excision repair 3, TFIIH core complex helicase subunit

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329

G

G protein-coupled receptor 17

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966

G

heparan sulfate 6-O-sulfotransferase 1

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683

G

interacts with SUPT6H, CTD assembly factor 1

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr18:23,695,496...23,737,363
Ensembl chr18:23,695,425...23,736,172

G

LIM zinc finger domain containing 2

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr18:23,553,937...23,592,137
Ensembl chr18:23,553,937...23,592,137

G

mitogen activated protein kinase kinase kinase 2

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr18:23,807,218...23,879,722
Ensembl chr18:23,807,218...23,871,433

G

myosin VIIb

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr18:23,588,307...23,669,841
Ensembl chr18:23,588,307...23,669,809

G

RNA polymerase II subunit D

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr18:23,418,097...23,425,228
Ensembl chr18:23,418,097...23,425,228

G

protein C, inactivator of coagulation factors Va and VIIIa

ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital protein C deficiency | ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:1301954 PMID:1301959 PMID:1347608 PMID:1464619 PMID:1469096 More...

NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133

G

Sin3A associated protein 130

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr18:23,244,337...23,345,368
Ensembl chr18:23,267,256...23,345,359

G

SFT2 domain containing 3

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr18:23,537,105...23,539,305
Ensembl chr18:23,537,105...23,539,305

G

UDP-glucose glycoprotein glucosyltransferase 1

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr 9:38,355,229...38,468,473
Ensembl chr 9:38,359,089...38,468,467

G

WD repeat domain 33

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr18:23,432,233...23,535,460
Ensembl chr18:23,432,191...23,468,597

autosomal dominant thrombophilia due to protein S deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein S

ClinVar Annotator: match by term: PROS1-related condition | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 More...

NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286

autosomal hemophilia A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 7

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858

G

ATP binding cassette subfamily D member 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115

G

acyl-CoA synthetase long-chain family member 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:105,942,794...106,006,573
Ensembl chr X:105,942,799...106,006,427

G

actin-related protein T1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:125,584,102...125,585,455
Ensembl chr X:125,584,065...125,585,457

G

activin A receptor like type 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

PMID:11484689 PMID:16429404 PMID:16540754 PMID:16829353 PMID:20056902 More...

NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591

G

adhesion G protein-coupled receptor G4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449

G

ALF transcription elongation factor 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995

G

angiotensin II receptor, type 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

apoptosis inducing factor, mitochondria associated 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256

G

A-kinase anchoring protein 14

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,395,512...116,410,697
Ensembl chr X:116,395,516...116,410,697

G

5'-aminolevulinate synthase 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519

G

ALG13, UDP-N-acetylglucosaminyltransferase subunit

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695

G

APC membrane recruitment protein 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440

G

AMMECR nuclear protein 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:106,465,982...106,571,382
Ensembl chr X:106,466,699...106,571,487

G

angiomotin

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:108,982,399...109,041,265
Ensembl chr X:108,984,022...109,041,272

G

apurinic/apyrimidinic endodeoxyribonuclease 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:19,425,684...19,508,459
Ensembl chr X:19,487,419...19,508,439

G

apelin

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391

G

apolipoprotein O-like

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:77,377,723...77,443,672
Ensembl chr X:77,377,781...77,443,900

G

androgen receptor

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

Rho GTPase activating protein 36

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:128,780,148...128,787,169
Ensembl chr X:128,751,900...128,787,161

G

Rho GTPase activating protein 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128

G

Rac/Cdc42 guanine nucleotide exchange factor 6

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304

G

Cdc42 guanine nucleotide exchange factor 9

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513

G

ARF like GTPase 13A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,380,370...97,406,704
Ensembl chr X:97,380,390...97,406,702

G

armadillo repeat containing, X-linked 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,898,969...97,902,874
Ensembl chr X:97,898,883...97,903,299

G

armadillo repeat containing, X-linked 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,980,662...97,985,523
Ensembl chr X:97,980,660...97,985,552

G

armadillo repeat containing, X-linked 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,937,115...97,942,098
Ensembl chr X:97,936,999...97,942,098

G

armadillo repeat containing, X-linked 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,860,526...97,870,912
Ensembl chr X:97,860,629...97,870,912

G

armadillo repeat containing, X-linked 5

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:98,709,921...98,714,347
Ensembl chr X:98,709,841...98,714,674

G

armadillo repeat containing, X-linked 6

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,929,032...97,932,031
Ensembl chr X:97,929,041...97,931,977

G

arrestin 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,699,881...65,712,224
Ensembl chr X:65,698,699...65,712,153

G

ankyrin repeat and SOCS box-containing 12

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:60,328,325...60,478,031
Ensembl chr X:60,328,328...60,415,619

G

autophagy related 4A, cysteine peptidase

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:104,665,345...104,765,271
Ensembl chr X:104,665,345...104,765,268

G

ATPase phospholipid transporting 11C

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:138,564,459...138,752,116
Ensembl chr X:138,565,836...138,751,204

G

ATPase Na+/K+ transporting family member beta 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:117,087,284...117,108,023
Ensembl chr X:117,057,423...117,108,020

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775

G

ATPase H+ transporting accessory protein 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034

G

ATPase copper transporting alpha

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

G

arginine vasopressin receptor 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989

G

acyl-CoA wax alcohol acyltransferase 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,668,205...65,674,450
Ensembl chr X:65,668,205...65,674,450

G

acyl-CoA wax alcohol acyltransferase 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,481,676...65,490,562
Ensembl chr X:65,481,929...65,527,625

G

B-cell receptor-associated protein 31

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506

G

BCL6 co-repressor-like 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087

G

brain expressed X-linked 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:99,219,014...99,220,518
Ensembl chr X:99,219,014...99,220,958

G

brain expressed X-linked 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:99,019,847...99,021,375
Ensembl chr X:99,019,000...99,021,503

G

brain expressed X-linked 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:99,273,270...99,274,799
Ensembl chr X:99,273,161...99,274,800

G

brain expressed, X-linked 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:99,131,985...99,133,417
Ensembl chr X:99,131,942...99,133,531

G

biglycan

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461

G

BRCA1/BRCA2-containing complex subunit 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080

G

bombesin receptor subtype 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983

G

bromodomain and WD repeat domain containing 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:73,768,343...73,861,643
Ensembl chr X:73,774,340...73,861,622

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

C1GALT1-specific chaperone 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787

G

calpain 6

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:107,380,774...107,405,489
Ensembl chr X:107,380,774...107,405,489

G

coiled-coil domain containing 160

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:132,468,141...132,478,616
Ensembl chr X:132,468,213...132,478,431

G

cyclin Q

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961

G

CD40 ligand

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

CD99 molecule-like 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

G

caudal type homeo box 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:68,326,874...68,335,461
Ensembl chr X:68,326,874...68,335,461

G

centromere protein I

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,515,919...97,567,671
Ensembl chr X:97,515,972...97,567,657

G

centrin 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:150,769,944...150,774,833
Ensembl chr X:150,769,953...150,774,919

G

cysteine-rich hydrophobic domain 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:68,362,014...68,406,155
Ensembl chr X:68,361,969...68,437,887

G

CHM Rab escort protein

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:78,203,200...78,361,996
Ensembl chr X:78,203,204...78,361,943

G

chordin-like 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:106,889,125...106,992,937
Ensembl chr X:106,889,125...106,992,921

G

Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:67,350,376...67,355,072
Ensembl chr X:67,350,373...67,355,162

G

claudin 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:103,459,870...103,473,794
Ensembl chr X:103,459,780...103,474,838

G

chloride intracellular channel 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355

G

C-X9-C motif containing 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160

G

cyclic nucleotide gated channel subunit alpha 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:149,696,999...149,715,051
Ensembl chr X:149,696,997...149,715,051

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692

G

collagen type IV alpha 6 chain

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:104,766,463...105,117,499
Ensembl chr X:104,766,957...105,117,500

G

cytochrome c oxidase subunit 7B

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732

G

CPX chromosome region, candidate 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:81,756,909...81,794,661

G

cleavage stimulation factor subunit 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,253,559...97,279,476
Ensembl chr X:97,253,586...97,279,476

G

cancer/testis antigen family 47, member B1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:115,651,472...115,655,191
Ensembl chr X:115,651,482...115,655,188

G

cancer/testis antigen 55

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:133,502,545...133,515,730
Ensembl chr X:133,502,869...133,515,529

G

cancer/testis antigen 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201

G

cullin 4B

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688

G

C-X-C motif chemokine receptor 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969

G

similar to human chromosome X open reading frame 49

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,911,430...66,915,407
Ensembl chr X:66,911,431...66,915,293

G

similar to human chromosome X open reading frame 66

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:138,779,374...138,819,595
Ensembl chr X:138,779,382...138,785,707

G

cylicin 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:76,108,111...76,197,431
Ensembl chr X:76,108,136...76,197,422

G

cysteinyl leukotriene receptor 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121

G

dachshund family transcription factor 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:78,718,963...79,018,023
Ensembl chr X:78,451,593...79,017,592

G

DDB1 and CUL4 associated factor 12-like 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:123,695,286...123,698,905
Ensembl chr X:123,695,286...123,698,905

G

DDB1 and CUL4 associated factor 12-like 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:123,293,761...123,296,550
Ensembl chr X:123,294,744...123,296,156

G

doublecortin

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476

G

diacylglycerol O-acyltransferase 2-like 6

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,614,430...65,637,962
Ensembl chr X:65,614,430...65,637,962

G

diaphanous-related formin 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:92,395,189...93,234,521
Ensembl chr X:92,395,251...93,229,869

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

G

discs large MAGUK scaffold protein 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,859,653...65,911,887
Ensembl chr X:65,860,172...65,910,322

G

DMRT-like family C1a

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:67,822,187...67,852,572
Ensembl chr X:67,822,113...67,852,571

G

DMRT-like family C1c1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:67,896,973...67,904,182
Ensembl chr X:67,896,974...67,904,182

G

dynein axonemal assembly factor 6

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:103,724,419...103,775,633
Ensembl chr X:103,731,857...103,775,629

G

deoxyribonuclease 1-like 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518

G

dedicator of cytokinesis 11

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:115,131,720...115,314,854
Ensembl chr X:115,131,909...115,314,854

G

dystrophin related protein 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684

G

dual specificity phosphatase 9

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821

G

ectodysplasin-A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172

G

ectodysplasin A2 receptor

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:62,224,763...62,269,333
Ensembl chr X:62,228,229...62,269,268

G

ephrin B1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:64,257,351...64,270,158
Ensembl chr X:64,257,351...64,270,157

G

E74 like ETS transcription factor 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,587,401...127,639,063
Ensembl chr X:127,590,650...127,630,200

G

emerin

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807

G

ecto-NOX disulfide-thiol exchanger 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:128,270,941...128,593,074
Ensembl chr X:128,271,074...128,593,039

G

endothelium and lymphocyte associated ASCH domain 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:149,064,015...149,068,627
Ensembl chr X:149,064,041...149,068,627

G

ERCC excision repair 6 like, spindle assembly checkpoint helicase

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:67,245,414...67,261,222
Ensembl chr X:67,245,414...67,280,756

G

ESX homeobox 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:100,449,298...100,454,452

G

coagulation factor VIII

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar Annotator: match by term: Mild hemophilia A

PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More...

NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857

G

coagulation factor VIII-associated 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

PMID:2105106 PMID:18371163 PMID:22759210 PMID:22906111 PMID:29296726 More...

NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168

G

coagulation factor IX

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More...

NCBI chr X:138,352,334...138,396,835
Ensembl chr X:138,352,298...138,396,835

G

family with sequence similarity 199, X-linked

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:100,384,230...100,419,935
Ensembl chr X:100,384,225...100,414,938

G

FAM3 metabolism regulating signaling molecule A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362

G

family with sequence similarity 50, member A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362

G

fibroblast growth factor 13

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:137,276,498...137,800,056
Ensembl chr X:137,276,511...137,800,391

G

fibroblast growth factor 16

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:70,816,658...70,828,028
Ensembl chr X:70,817,433...70,878,717

G

four and a half LIM domains 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928

G

filamin A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052

G

fragile X messenger ribonucleoprotein 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050

G

FMR1 neighbor

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:147,309,613...147,332,426
Ensembl chr X:147,309,663...147,332,418

G

forkhead box O4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115

G

forkhead box R2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:18,242,420...18,276,095
Ensembl chr X:18,244,255...18,245,163

G

FERM domain containing 7

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:130,375,925...130,423,836
Ensembl chr X:130,377,227...130,423,771

G

FERM and PDZ domain containing 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:103,964,168...104,113,864
Ensembl chr X:104,043,194...104,111,968

G

FTX transcript, XIST regulator

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:68,588,349...68,630,338

G

FUN14 domain containing 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

PMID:2105106 PMID:2563431 PMID:31690835

NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345

G

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

gamma-aminobutyric acid type A receptor subunit alpha 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:150,244,745...150,501,566
Ensembl chr X:150,261,607...150,501,559

G

gamma-aminobutyric acid type A receptor subunit epsilon

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:150,060,035...150,078,773
Ensembl chr X:150,060,040...150,078,693

G

gamma-aminobutyric acid type A receptor subunit theta

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:150,696,161...150,712,948
Ensembl chr X:150,696,427...150,709,919

G

GDP dissociation inhibitor 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272

G

glycerophosphodiester phosphodiesterase domain containing 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,826,273...65,835,361
Ensembl chr X:65,826,574...65,835,361

G

gap junction protein, beta 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925

G

galactosidase, alpha

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664

G

glypican 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798

G

glypican 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:131,644,711...131,755,349
Ensembl chr X:131,644,704...131,755,284

G

G protein-coupled receptor 101

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958

G

G protein-coupled receptor 119

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,852,145...127,858,198
Ensembl chr X:127,852,145...127,858,198

G

G protein-coupled receptor 174

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:72,355,452...72,396,146
Ensembl chr X:72,355,033...72,397,658

G

G protein-coupled receptor 50

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:149,368,900...149,373,486
Ensembl chr X:149,368,900...149,373,486

G

G protein-coupled receptor associated sorting protein 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:98,764,853...98,772,685
Ensembl chr X:98,709,841...98,772,851

G

G protein-coupled receptor associated sorting protein 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:98,817,668...98,823,814
Ensembl chr X:98,817,593...98,824,402

G

G protein-coupled receptor associated sorting protein family member 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:98,847,591...98,854,949
Ensembl chr X:98,817,593...98,854,545

G

glutamate ionotropic receptor AMPA type subunit 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:120,238,515...120,504,106
Ensembl chr X:120,238,534...120,504,096

G

guanylate cyclase 2F

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:105,710,356...105,808,183
Ensembl chr X:105,710,356...105,808,183

G

H2A.B variant histone 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

PMID:2105106 PMID:18371163 PMID:22759210 PMID:22906111 PMID:29296726 More...

NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983

G

HAUS augmin-like complex, subunit 7

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577

G

host cell factor C1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638

G

histone deacetylase 8

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923

G

highly divergent homeobox

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:76,552,539...76,697,177
Ensembl chr X:76,560,665...76,869,972

G

hephaestin

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:61,151,131...61,402,980
Ensembl chr X:61,296,345...61,402,980

G

high mobility group box 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:149,296,303...149,301,290
Ensembl chr X:149,296,375...149,301,292

G

high mobility group nucleosome binding domain 5

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:74,085,871...74,094,488
Ensembl chr X:74,085,875...74,094,441
Ensembl chr 1:74,085,875...74,094,441

G

heterogeneous nuclear ribonucleoprotein H2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041

G

hypoxanthine phosphoribosyltransferase 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154

G

heparan sulfate 6-O-sulfotransferase 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:130,966,547...131,261,629
Ensembl chr X:130,968,385...131,261,492

G

HIV-1 Tat specific factor 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607

G

5-hydroxytryptamine receptor 2C

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:110,640,777...110,870,288
Ensembl chr X:110,641,153...110,870,287

G

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171

G

iduronate 2-sulfatase

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:149,025,976...149,046,641
Ensembl chr X:149,025,976...149,046,663

G

immunoglobulin binding protein 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,582,832...65,605,078
Ensembl chr X:65,582,821...65,606,049

G

immunoglobulin superfamily, member 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:129,069,891...129,085,331
Ensembl chr X:129,069,896...129,085,139

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499

G

interleukin 13 receptor subunit alpha 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681

G

interleukin 13 receptor subunit alpha 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381

G

interleukin 1 receptor accessory protein-like 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:100,961,509...102,271,753
Ensembl chr X:100,961,812...102,271,753

G

interleukin 2 receptor subunit gamma

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823

G

integrator complex subunit 6 like

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:134,258,117...134,325,706
Ensembl chr X:134,258,125...134,309,617

G

interleukin-1 receptor-associated kinase 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521

G

insulin receptor substrate 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:105,344,020...105,360,004

G

integrin subunit beta 1 binding protein 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,572,537...66,577,174
Ensembl chr X:66,572,537...66,577,174

G

inter-alpha-trypsin inhibitor heavy chain family member 6

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:19,753,322...19,790,381
Ensembl chr X:19,753,625...19,789,500

G

integral membrane protein 2A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:72,486,383...72,492,344
Ensembl chr X:72,486,381...72,492,363

G

JPX transcript, XIST activator

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:68,511,491...68,665,132

G

potassium voltage-gated channel subfamily E regulatory subunit 5

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:105,930,398...105,931,013
Ensembl chr X:105,930,398...105,931,013

G

KIAA1210 homolog

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:115,675,412...115,725,950
Ensembl chr X:115,675,427...115,725,925

G

kinesin family member 4A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,721,746...65,824,277
Ensembl chr X:65,721,779...65,824,139

G

KLF transcription factor 8

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:17,950,045...18,132,980
Ensembl chr X:17,958,843...18,133,182

G

kelch-like family member 13

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:113,942,309...114,107,299
Ensembl chr X:113,942,309...114,107,321

G

kelch-like family member 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:79,429,193...79,719,482
Ensembl chr X:79,622,113...79,719,480

G

L1 cell adhesion molecule

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857

G

L antigen family, member 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632

G

lysosomal-associated membrane protein 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522

G

LAS1-like, ribosome biogenesis factor

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:60,851,969...60,873,717
Ensembl chr X:60,851,962...60,873,687

G

LDOC1, regulator of NFKB signaling

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:139,965,509...140,074,355
Ensembl chr X:139,965,509...140,074,355

G

LHFPL tetraspan subfamily member 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:108,815,596...108,873,460
Ensembl chr X:108,815,596...108,873,460

G

protein BEX1-like

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr 1:110,047,861...110,051,812

G

small nucleolar RNA SNORA11

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:19,735,030...19,735,144
Ensembl chr X:19,735,030...19,735,144

G

LON peptidase N-terminal domain and ring finger 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:115,565,214...115,603,886
Ensembl chr X:115,565,267...115,598,809

G

lysophosphatidic acid receptor 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:72,033,486...72,046,978
Ensembl chr X:72,033,486...72,046,977

G

leucine rich repeats and calponin homology domain containing 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:111,091,728...111,174,225
Ensembl chr X:111,092,814...111,174,210

G

leucine zipper protein 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:111,280,490...111,321,363
Ensembl chr X:111,280,549...111,321,359

G

MAGE family member A10

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:150,212,708...150,217,954
Ensembl chr X:150,213,245...150,214,213

G

MAGE family member A9

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:142,619,282...142,624,654
Ensembl chr X:142,619,395...142,624,653

G

MAGE family member C2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:140,610,610...140,615,484
Ensembl chr X:140,606,825...140,615,471

G

MAGE family member D2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:19,733,593...19,741,769
Ensembl chr X:19,733,597...19,740,477

G

MAGE family member E1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:70,189,242...70,192,789
Ensembl chr X:70,189,187...70,192,810

G

MAGE family member E2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:69,885,751...69,944,824
Ensembl chr X:69,942,533...69,944,657

G

MAGE family member H1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:18,350,015...18,351,271
Ensembl chr X:18,349,774...18,351,516

G

magnesium transporter 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:71,038,489...71,079,704
Ensembl chr X:71,038,489...71,079,699

G

MAP7 domain containing 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841

G

muscleblind-like splicing regulator 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:130,641,942...130,737,179
Ensembl chr X:130,648,538...130,737,056

G

MCF.2 cell line derived transforming sequence

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:138,414,077...138,514,828
Ensembl chr X:138,409,256...138,514,446

G

MCTS1, re-initiation and release factor

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:117,350,723...117,362,504
Ensembl chr X:117,350,889...117,362,504

G

methyl CpG binding protein 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689

G

mediator complex subunit 12

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387

G

midline 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:104,354,692...104,456,757
Ensembl chr X:104,355,316...104,453,473

G

microRNA 105

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:150,438,529...150,438,601
Ensembl chr X:150,438,529...150,438,601

G

microRNA 106a

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:132,422,584...132,422,661
Ensembl chr X:132,422,584...132,422,661

G

microRNA 19b-2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:132,422,072...132,422,167
Ensembl chr X:132,422,072...132,422,167

G

microRNA 223

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

microRNA 224

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169

G

microRNA 322

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:132,806,594...132,806,688
Ensembl chr X:132,806,594...132,806,688

G

microRNA 448

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:110,829,918...110,830,029
Ensembl chr X:110,829,918...110,830,029

G

microRNA 503

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:132,806,303...132,806,373
Ensembl chr X:132,806,303...132,806,373

G

membrane magnesium transporter 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:134,408,463...134,420,798
Ensembl chr X:134,408,466...134,420,729

G

MORC family CW-type zinc finger 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:103,477,366...103,529,026
Ensembl chr X:103,480,603...103,528,956

G

mortality factor 4 like 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:100,082,562...100,093,658
Ensembl chr X:100,082,404...100,093,728

G

motile sperm domain containing 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:133,100,200...133,127,960
Ensembl chr X:133,100,422...133,127,908
Ensembl chr 1:133,100,422...133,127,908
Ensembl chr14:133,100,422...133,127,908

G

MAGUK p55 scaffold protein 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

PMID:2105106 PMID:31690835

G

moesin

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:60,996,043...61,064,011
Ensembl chr X:60,995,951...61,065,628

G

mature T-cell proliferation 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr18:126,189...130,123

G

myotubularin 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860

G

myotubularin related protein 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541

G

N(alpha)-acetyltransferase 10, NatA catalytic subunit

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252

G

NALCN channel auxiliary factor 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:64,925,100...64,951,074
Ensembl chr X:64,925,051...64,951,077

G

nucleosome assembly protein 1-like 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:68,174,051...68,176,449
Ensembl chr X:68,173,987...68,176,666

G

nucleosome assembly protein 1-like 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:88,347,595...88,350,393
Ensembl chr X:88,347,598...88,350,393

G

NADH:ubiquinone oxidoreductase subunit A1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633

G

neurite extension and migration factor

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:69,088,076...69,219,253
Ensembl chr X:69,088,076...69,112,930

G

NHS-like 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,969,953...67,209,464
Ensembl chr X:66,970,151...67,200,911

G

NFKB activating protein

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945

G

NFKB repressing factor

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,126,341...116,144,554
Ensembl chr X:116,128,798...116,144,628

G

neuroligin 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876

G

non-POU domain containing, octamer-binding

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952

G

NADPH oxidase 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236

G

Nik related kinase

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:102,365,765...102,462,957
Ensembl chr X:102,365,765...102,459,657

G

NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142

G

nucleoporin 62 C-terminal like

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:103,668,458...103,724,957
Ensembl chr X:103,668,455...103,724,081

G

nuclear RNA export factor 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:98,135,953...98,157,117
Ensembl chr X:98,135,950...98,157,089

G

nuclear RNA export factor 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:99,025,901...99,050,409
Ensembl chr X:99,025,901...99,039,261

G

nuclear RNA export factor 7

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:98,535,374...98,552,562
Ensembl chr X:98,535,375...98,552,526

G

nuclear transport factor 2-like export factor 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:105,855,616...105,862,902
Ensembl chr X:105,855,608...105,862,899

G

OCRL, inositol polyphosphate-5-phosphatase

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362

G

O-linked N-acetylglucosamine (GlcNAc) transferase

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,771,278...66,816,148
Ensembl chr X:66,771,349...66,816,146

G

oligophrenin 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:63,599,746...63,976,678
Ensembl chr X:63,603,042...63,976,633

G

opsin 1, medium wave sensitive

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388

G

OTU deubiquitinase 6A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,514,113...65,516,287
Ensembl chr X:65,514,191...65,515,063

G

P2Y receptor family member 10

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:72,121,558...72,207,174
Ensembl chr X:72,111,264...72,212,265

G

pyrimidinergic receptor P2Y4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,681,680...65,717,404
Ensembl chr X:65,683,232...65,721,748

G

PABIR family member 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:132,989,124...133,015,625
Ensembl chr X:132,989,124...133,015,580

G

PABIR family member 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:133,020,162...133,083,801
Ensembl chr X:133,020,190...133,083,805

G

poly(A) binding protein, cytoplasmic 1-like 2A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:68,023,845...68,026,508

G

poly(A) binding protein cytoplasmic 1 like 2B

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

G

poly A binding protein, cytoplasmic 5

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:85,637,763...85,641,235
Ensembl chr X:85,638,574...85,639,722

G

p21 (RAC1) activated kinase 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:107,116,308...107,374,342
Ensembl chr X:107,260,898...107,368,314

G

PAS domain containing repressor 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:149,617,933...149,639,214
Ensembl chr X:149,620,972...149,638,675

G

polysaccharide biosynthesis domain containing 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:70,154,106...70,197,827
Ensembl chr X:70,154,106...70,184,552

G

protocadherin 11 X-linked

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:86,058,348...86,751,078
Ensembl chr X:86,058,394...86,747,036

G

protocadherin 19

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524

G

PDZ domain containing 11

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,718,689...65,721,742
Ensembl chr X:65,704,067...65,721,642

G

PDZ domain containing 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:19,508,522...19,562,165
Ensembl chr X:19,508,546...19,562,182

G

phosphoglycerate kinase 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:71,271,454...71,287,429
Ensembl chr X:71,271,440...71,287,418

G

progesterone receptor membrane component 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682

G

PHD finger protein 6

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127

G

phosphorylase kinase regulatory subunit alpha 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:67,601,302...67,738,504
Ensembl chr X:67,601,302...67,738,455

G

peptidylprolyl cis/trans isomerase, NIMA-interacting 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:67,232,066...67,238,709
Ensembl chr X:67,232,081...67,238,702

G

praja ring finger ubiquitin ligase 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:64,580,938...64,585,846
Ensembl chr X:64,580,849...64,585,833

G

placenta enriched 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:132,821,347...132,955,143
Ensembl chr X:132,821,347...132,985,668

G

proteolipid protein 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032

G

plastin 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891

G

plexin A3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603

G

plexin B3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674

G

pregnancy up-regulated nonubiquitous CaM kinase

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446

G

PNMA family member 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839

G

PNMA family member 5

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789

G

PNMA family member 6E

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037

G

POF1B, actin binding protein

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:77,683,128...77,749,827
Ensembl chr X:77,683,128...77,749,688

G

POU class 3 homeobox 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:75,858,646...75,859,923
Ensembl chr X:75,858,646...75,859,923

G

phosphoribosyl pyrophosphate synthetase 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187

G

proline rich 32

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:123,978,010...123,979,928
Ensembl chr X:123,977,985...123,979,942

G

proline rich and Gla domain 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:149,666,498...149,689,353
Ensembl chr X:149,670,257...149,677,373

G

proteasome 26S subunit, non-ATPase 10

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:104,656,809...104,665,122
Ensembl chr X:104,656,812...104,665,097

G

PWWP domain containing 3B

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:102,804,416...102,838,580
Ensembl chr X:102,804,520...102,838,574

G

RAB33A, member RAS oncogene family

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378

G

RAB9B, member RAS oncogene family

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701

G

RPA1 related single stranded DNA binding protein, X-linked

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:103,089,284...103,176,840
Ensembl chr X:103,089,284...103,176,838

G

RAP2C, member of RAS oncogene family

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:130,504,554...130,517,671
Ensembl chr X:130,504,698...130,518,328

G

RNA binding motif protein 41

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:103,605,732...103,660,381
Ensembl chr X:103,608,585...103,660,381

G

RNA binding motif protein, X-linked

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743

G

RNA binding motif protein, X-linked 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,888,514...127,896,239
Ensembl chr X:127,888,438...127,896,869

G

renin binding protein

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516

G

Rhox homeobox family member 13

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,911,226...116,917,758
Ensembl chr X:116,911,329...116,917,644

G

Rhox homeobox family member 2B

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870

G

ripply transcriptional repressor 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:103,436,731...103,440,904
Ensembl chr X:103,436,729...103,443,349

G

ring finger protein, LIM domain interacting

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:68,983,259...69,004,368
Ensembl chr X:68,988,375...69,004,271

G

ring finger protein 113A1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762

G

ring finger protein 128

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:103,183,643...103,298,431
Ensembl chr X:103,183,831...103,298,423

G

ribosomal protein L10

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761

G

ribosomal protein L36A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
Ensembl chr20:97,766,179...97,768,892

G

ribosomal protein L39

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr  X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
Ensembl chr15:6,326,330...6,326,692
Ensembl chr20:6,326,330...6,326,692
Ensembl chr 7:6,326,330...6,326,692

G

ribosomal protein S4, X-linked

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:67,298,522...67,302,965
Ensembl chr X:67,298,525...67,303,019
Ensembl chr 4:67,298,525...67,303,019

G

ribosomal protein S6 kinase A6

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:76,353,316...76,454,502
Ensembl chr X:76,353,760...76,454,484

G

Ras-related GTP binding B

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:18,184,619...18,234,639
Ensembl chr X:18,184,992...18,234,639

G

retrotransposon Gag like 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:71,947,343...71,951,008
Ensembl chr X:71,948,253...71,950,121

G

retrotransposon Gag like 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:108,231,052...108,641,768
Ensembl chr X:108,633,651...108,640,050

G

retrotransposon Gag like 5

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:67,183,948...67,188,747
Ensembl chr X:67,184,154...67,188,809

G

retrotransposon Gag like 8A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:133,414,027...133,415,240
Ensembl chr X:133,414,030...133,415,240

G

retrotransposon Gag like 9

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:106,708,454...106,720,607
Ensembl chr X:106,714,868...106,719,794

G

SAM and SH3 domain containing 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,326,815...127,341,521
Ensembl chr X:127,326,859...127,341,519

G

spermidine/spermine N1-acetyl transferase-like 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:77,453,357...77,469,100
Ensembl chr X:77,453,357...77,469,158

G

septin 6

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,153,255...116,230,334
Ensembl chr X:116,153,255...116,230,115

G

serpin family A member 7

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040

G

SH2 domain containing 1A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:121,373,693...121,401,923

G

SH3 domain binding glutamate rich protein like 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:74,167,029...74,263,783
Ensembl chr X:74,166,871...74,263,783

G

solute carrier family 10, member 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958

G

solute carrier family 16 member 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771

G

solute carrier family 25 member 14

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,807,630...127,845,823
Ensembl chr X:127,807,449...127,845,823

G

solute carrier family 25, member 43

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:115,977,437...116,011,789
Ensembl chr X:115,977,510...116,011,205

G

solute carrier family 25 member 5

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,031,896...116,034,963
Ensembl chr X:116,031,803...116,034,967

G

solute carrier family 25, member 53

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:100,306,917...100,319,662
Ensembl chr X:100,306,915...100,319,863

G

solute carrier family 6 member 14

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:112,314,643...112,375,412
Ensembl chr X:112,314,691...112,375,096

G

solute carrier family 6 member 8

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979

G

solute carrier family 7 member 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,210,071...66,216,482
Ensembl chr X:66,210,081...66,215,708

G

solute carrier family 9 member A6

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375

G

SLIT and NTRK-like family, member 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:145,246,448...145,259,983
Ensembl chr X:145,246,460...145,271,220

G

SLIT and NTRK-like family, member 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:142,706,495...142,718,968
Ensembl chr X:142,706,338...142,718,575

G

SNF2 related chromatin remodeling ATPase 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:126,980,201...127,066,385
Ensembl chr X:126,994,947...127,066,347

G

sorting nexin 12

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,226,995...66,356,945
Ensembl chr X:66,227,053...66,356,950

G

sosondowah ankyrin repeat domain family member D

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,292,030...116,293,660
Ensembl chr X:116,292,030...116,293,660

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678

G

spindlin family member 2A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:17,511,018...17,513,001
Ensembl chr X:17,511,022...17,513,001

G

spindlin family member 2B

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:17,190,573...17,192,351
Ensembl chr X:17,180,474...17,192,351

G

spindlin family, member 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:59,888,728...59,892,817
Ensembl chr X:59,891,581...59,892,330

G

SRSF protein kinase 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198

G

sushi-repeat-containing protein, X-linked 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195

G

signal sequence receptor subunit 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202

G

STAG2 cohesin complex component

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677

G

StAR-related lipid transfer domain containing 8

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:64,079,079...64,196,052
Ensembl chr X:64,124,574...64,196,052

G

STING1 ER exit protein 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,087,626...116,114,159
Ensembl chr X:116,060,929...116,114,159

G

serine/threonine kinase 26

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:130,325,064...130,375,674
Ensembl chr X:130,310,885...130,374,291

G

synaptotagmin-like 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,135,496...97,185,867
Ensembl chr X:97,135,500...97,185,854

G

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543

G

TATA-box binding protein associated factor 7-like

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023

G

TATA-box binding protein associated factor 9b

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:71,289,290...71,300,142
Ensembl chr X:71,289,290...71,300,604

G

tafazzin, phospholipid-lysophospholipid transacylase

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001

G

TBC1 domain family member 8B

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:103,319,181...103,407,137
Ensembl chr X:103,319,340...103,407,133

G

T-box transcription factor 22

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647

G

transcription elongation factor A like 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:100,058,485...100,060,439
Ensembl chr X:100,058,132...100,060,551

G

transcription elongation factor A like 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr  X:100,010,677...100,012,637
Ensembl chr  X:100,010,690...100,012,654
Ensembl chr  X:100,010,690...100,012,654

G

transcription elongation factor A like 5

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:99,204,422...99,207,373
Ensembl chr X:99,204,429...99,207,353

G

transcription elongation factor A like 7

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:99,228,405...99,230,551
Ensembl chr X:99,228,458...99,230,543

G

transcription elongation factor A like 8

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:99,171,307...99,173,377
Ensembl chr X:99,171,177...99,173,710

G

transcription elongation factor A like 9

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:99,245,645...99,247,720
Ensembl chr X:99,228,458...99,247,763

G

t-complex 11 family, X-linked 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:98,591,191...98,640,800
Ensembl chr X:98,591,189...98,640,763

G

teneurin transmembrane protein 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:121,400,466...122,289,877
Ensembl chr X:121,403,649...122,290,207

G

terminal nucleotidyltransferase 5D

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:72,901,287...72,974,562
Ensembl chr X:72,901,241...72,970,573

G

testis expressed 11

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:65,932,904...66,196,525
Ensembl chr X:65,932,988...66,196,187

G

testis expressed 13A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:101,598,992...101,601,951
Ensembl chr X:101,600,495...101,601,933

G

testis expressed 13B

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:104,490,937...104,511,224
Ensembl chr X:104,490,091...104,494,201

G

testis expressed 28

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567

G

TGFB-induced factor homeobox 2-like, X-linked 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:84,109,203...84,110,264
Ensembl chr X:84,109,220...84,110,274

G

THO complex subunit 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:120,634,966...120,749,569
Ensembl chr X:120,634,968...120,749,513

G

translocase of inner mitochondrial membrane 8A1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960

G

transketolase-like 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208

G

transmembrane protein 164

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:106,288,019...106,448,642
Ensembl chr X:106,289,371...106,448,640

G

transmembrane protein 185A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:149,143,026...149,167,757
Ensembl chr X:149,143,031...149,167,757

G

transmembrane protein 255A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008

G

transmembrane protein 35A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,503,350...97,514,198
Ensembl chr X:97,503,350...97,514,197

G

trimethyllysine hydroxylase, epsilon

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386

G

thymosin beta 15B2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:100,298,705...100,300,820
Ensembl chr X:100,298,514...100,300,886

G

tenomodulin

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,057,137...97,072,634
Ensembl chr X:97,057,137...97,072,634

G

three prime repair exonuclease 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479

G

tRNA methyltransferase 2 homolog B

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,425,712...97,483,821

G

trophinin

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:19,563,395...19,574,507
Ensembl chr X:19,563,517...19,572,953

G

transient receptor potential cation channel, subfamily C, member 5

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:107,946,163...108,230,991
Ensembl chr X:107,939,131...108,230,991

G

TRPC5 opposite strand

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:108,025,172...108,044,201
Ensembl chr X:108,024,924...108,046,581

G

TSC22 domain family, member 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:104,217,898...104,277,886
Ensembl chr X:104,217,925...104,276,861

G

tetraspanin 6

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,092,394...97,099,659
Ensembl chr X:97,092,388...97,099,309

G

ubiquitin-conjugating enzyme E2A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070

G

ubiquitin-like 4A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069

G

ubiquilin 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505

G

UPF3B, regulator of nonsense mediated mRNA decay

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236

G

uracil phosphoribosyltransferase homolog

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:69,516,573...69,546,811
Ensembl chr X:69,516,738...69,546,797

G

ubiquitin specific peptidase 26

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:131,317,200...131,363,964
Ensembl chr X:131,319,194...131,363,970

G

ubiquitin specific peptidase 51

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:18,374,940...18,381,472
Ensembl chr X:18,376,930...18,379,888

G

UTP14A small subunit processome component

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,439,282...127,464,634
Ensembl chr X:127,439,268...127,464,633

G

VHL binding protein 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

G

VCP nuclear cofactor family member 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:19,310,182...19,393,156
Ensembl chr X:19,349,560...19,378,486

G

vestigial-like family member 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:134,979,657...134,996,007

G

vacuolar ATPase assembly factor VMA21

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:149,491,709...149,501,010
Ensembl chr X:149,491,738...149,499,272

G

V-set and immunoglobulin domain containing 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:104,607,031...104,640,128
Ensembl chr X:104,607,031...104,639,249

G

V-set and immunoglobulin domain containing 4

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:61,144,926...61,170,212
Ensembl chr X:61,144,928...61,170,212

G

von Willebrand factor

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

G

WD repeat domain 44

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:114,481,890...114,587,307
Ensembl chr X:114,482,006...114,587,224

G

X-linked inhibitor of apoptosis

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700

G

X inactive specific transcript

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:68,474,987...68,492,500

G

XK related, X-linked

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:97,341,158...97,353,175
Ensembl chr X:97,341,152...97,354,759

G

X-prolyl aminopeptidase 2

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,287,765...127,317,036
Ensembl chr X:127,287,979...127,317,223

G

Yip1 domain family, member 6

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:64,039,602...64,051,715
Ensembl chr X:64,040,952...64,054,702

G

zinc finger and BTB domain containing 33

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023

G

zinc finger CCCH-type containing 12B

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:60,615,616...60,849,278
Ensembl chr X:60,615,682...60,844,832

G

zinc finger C4H2-type containing

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488

G

zinc finger CCHC-type containing 12

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692

G

zinc finger CCHC-type containing 13

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:68,643,568...68,644,671
Ensembl chr X:68,643,549...68,665,131

G

zinc finger DHHC-type palmitoyltransferase 15

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:69,568,086...69,701,756
Ensembl chr X:69,574,124...69,701,756

G

zinc finger DHHC-type palmitoyltransferase 9

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,352,340...127,388,245
Ensembl chr X:127,352,345...127,388,245

G

zinc finger protein 185

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810

G

zinc finger protein 280C

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:127,716,403...127,807,600
Ensembl chr X:127,717,983...127,779,825

G

zinc finger protein 449

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:134,120,820...134,140,921
Ensembl chr X:134,122,636...134,140,924

G

zinc finger protein 711

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:77,646,300...77,679,398
Ensembl chr X:77,646,558...77,678,045

G

zinc finger protein 75D

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:134,035,116...134,053,765
Ensembl chr X:134,036,143...134,051,519

G

ZFP92 zinc finger protein

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177

G

Zic family member 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746

G

zinc finger, matrin-type 1

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:98,168,388...98,199,415
Ensembl chr X:98,168,456...98,199,733

G

zinc finger MYM-type containing 3

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782

G

zinc finger, X-linked, duplicated A

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr  X:59,760,871...59,766,010
Ensembl chr  X:59,763,210...59,765,903
Ensembl chr  X:59,763,210...59,765,903

G

zinc finger, X-linked, duplicated B

ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A

NCBI chr  X:59,700,765...59,706,737
Ensembl chr  X:59,701,178...59,703,871
Ensembl chr  X:59,701,178...59,703,871

autosomal recessive thrombophilia due to protein C deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein C, inactivator of coagulation factors Va and VIIIa

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive

PMID:1301954 PMID:1301959 PMID:1347608 PMID:1347706 PMID:1348046 More...

NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133

autosomal recessive thrombophilia due to protein S deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ARF like GTPase 13B

ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive

PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532

NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197

G

NOP2/Sun RNA methyltransferase 3

ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive

PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532

NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543

G

protein S

ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2521801 More...

NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286

G

syntaxin 19

ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive

PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532

NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191

Bernard-Soulier syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

treatment

DNA:missense mutation: :p.V262G (c.785T>G) (human)
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
OMIM:231200
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation: :p.C209S (715T>A) (human)
DNA:missense mutation: :p.N45S (1829A>G) (human)
DNA:missense mutation, deletion: :p.L129P, 4630_4631del (human)
DNA:missense mutation: :p.L129P (human)
DNA:missense mutation: :p.N126D (c.376A>G) (human)

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:7579348 PMID:7819107 PMID:7855797 PMID:8950770 PMID:9233564 More...

RGD:10450796, RGD:10450843, RGD:10450834, RGD:10450833, RGD:10450819, RGD:10450809, RGD:10450798

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

G

glycoprotein Ib platelet subunit beta

severity

ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: GP1BB-related condition
OMIM:231200
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
DNA:deletion:cds:
DNA:mutations:cds:p.Y88C,A108P(human)

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:10887115 PMID:17109744 PMID:18414213 PMID:19548962 PMID:24685245 More...

RGD:13464128, RGD:11040530, RGD:11040529, RGD:11040528

NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392

G

glycoprotein IX (platelet)

severity

ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: GP9-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.182A>G(p.N61S)(human)
DNA:mutation:cds:p.C73Y(human)

OMIM
ClinVar
CTD
RGD

PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:11167791 More...

RGD:13464128, RGD:11040531

NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110

G

von Willebrand factor

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

G

WAP four-disulfide core domain 21

ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: GP1BB-related condition

PMID:10887115 PMID:17109744 PMID:18414213 PMID:19548962 PMID:24685245 More...

NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701

Bernard-Soulier Syndrome Type A1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1

PMID:1694864 PMID:1901273 PMID:2308962 PMID:7690774 PMID:7819107 More...

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

Bernard-Soulier syndrome type A2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant

PMID:1694864 PMID:1730088 PMID:7579348 PMID:7690774 PMID:7819107 More...

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

Bernard-Soulier Syndrome, Autosomal Dominant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

DNA:missense mutation: :p.A156V (515C>T) (human)
DNA:missense mutation: :p.N41H (169A>C) (human)

RGD

PMID:11222377 PMID:18815197

RGD:10450832, RGD:10450842

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

Bernard-Soulier Syndrome, Type B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type

PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 More...

NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392

G

WAP four-disulfide core domain 21

ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type

PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 More...

NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701

Bernard-Soulier Syndrome, Type C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein IX (platelet)

DNA:missense mutations:cds:p.D21G, p.N45S (human)
ClinVar Annotator: match by term: Bernard-Soulier syndrome type C

PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:9886312 More...

NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110

Bleeding Disorder, Vascular-Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein L domain containing 1

NCBI chr 4:167,768,437...167,825,706
Ensembl chr 4:167,818,271...167,825,706

blood platelet disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain containing 26

ClinVar Annotator: match by term: Platelet disorder

PMID:23677566 PMID:25741868 PMID:28492532 PMID:28669401 PMID:31064749 More...

NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968

G

CD36 molecule

CD36 deficiency, OMIM:608404, DNA:point mutation, frameshift mutation
ClinVar Annotator: match by term: Platelet disorder

PMID:7533783 PMID:7686693 PMID:10946357 PMID:11019968 PMID:11718687 More...

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

FERM domain containing kindlin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587

G

glycoprotein VI

Sticky platelet syndrome type II;DNA:SNPs:introns: (rs1671153, rs1654419) (human)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:SNP:exon:g.55526345G>T (rs1671152) (human)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:SNPs:introns, exon:g.55527189T>G, g.55535881G>A, g.55536595A>G (rs1671153, rs1654419, rs1613662) (human)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:missense mutations:CDS:p.H322N, p.A249T, p.E237K (rs1671152, rs2304167, rs1654416) (human)
Sticky platelet syndrome type I associated with cerebral infarction;DNA:SNPs, haplotype:multiple (human)

RGD

PMID:22821001 PMID:26308704 PMID:22901851 PMID:28041267 PMID:23168074

RGD:401794137, RGD:11537847, RGD:401794455, RGD:401794417, RGD:401794413

NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326

G

phospholipase A2 group 4A

CTD Direct Evidence: marker/mechanism

NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Platelet disorder

PMID:10508512 PMID:11049997 PMID:11830488 PMID:12002768 PMID:22012064 More...

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

syntaxin binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458

G

thromboxane A2 receptor

DNA:mutation:cds:p.R60L(human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:7929844 PMID:19828703 PMID:7929844

NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176

Braddock-Carey Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 15

ClinVar Annotator: match by term: Braddock-carey syndrome 2

PMID:25741868 PMID:28150392

NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750

Brittle Cornea Syndrome

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