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RGD DISEASE ONTOLOGY - ANNOTATIONS

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:Inherited Blood Coagulation Disease
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Accession:DOID:9002557 term browser browse the term
Definition:Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.
Synonyms:exact_synonym: hereditary blood coagulation disorders;   hereditary coagulation disorder;   hereditary coagulation disorders;   inherited blood coagulation diseases;   inherited blood coagulation disorders;   inherited coagulation disorder;   inherited coagulation disorders
 primary_id: MESH:D025861
 alt_id: DOID:2214
 xref: MIM:PS277450;   ORDO:98429


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Inherited Blood Coagulation Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F7 coagulation factor VII treatment ISO RGD PMID:10469179 RGD:11041654 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Ggcx gamma-glutamyl carboxylase ISO RGD PMID:9845520 RGD:1598791 NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17493413 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
Acquired Protein C Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpine1 serpin family E member 1 IEP associated with Sepsis;protein:increased activity:lung (rat) RGD PMID:18182560 RGD:11080962 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
antithrombin III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,424,766...73,450,466
Ensembl chr13:73,424,480...73,450,466 		JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177 		JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114 		JBrowse link
G Cop1 COP1, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:71,467,164...71,561,826
Ensembl chr13:71,429,961...71,538,890 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934 		JBrowse link
G Gas5 growth arrest specific 5 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,303,611...73,306,932 JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,800,265...72,804,989
Ensembl chr13:72,800,127...72,806,180 		JBrowse link
G Kiaa0040 KIAA0040 ortholog ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,274,519...72,312,103
Ensembl chr13:72,274,552...72,312,103 		JBrowse link
G Klhl20 kelch-like family member 20 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,363,451...73,408,293
Ensembl chr13:73,363,455...73,408,337 		JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915 		JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355 		JBrowse link
G Rabgap1l RAB GTPase activating protein 1-like ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984 		JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar 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 		JBrowse link
G Scarna3 small Cajal body-specific RNA 3 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 6:99,222,432...99,222,521
Ensembl chr 6:99,222,432...99,222,521 		JBrowse link
G Serpinc1 serpin family C member 1 susceptibility ISO
ISS		 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... RGD:1599321 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293 		JBrowse link
G Slc9c2 solute carrier family 9, member C2 (putative) ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,424,683...73,524,244
Ensembl chr13:73,451,115...73,524,239
Ensembl chr13:73,451,115...73,524,239 		JBrowse link
G Tex50 testis expressed 50 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,433,375...73,438,787
Ensembl chr13:73,433,384...73,438,792 		JBrowse link
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788 		JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,319,160...72,386,362
Ensembl chr13:72,319,155...72,408,156 		JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641 		JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124 		JBrowse link
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 Ammecr1l AMMECR1 like ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,386,114...23,411,177
Ensembl chr18:23,386,903...23,410,920 		JBrowse link
G Bin1 bridging integrator 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966 		JBrowse link
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683 		JBrowse link
G Iws1 interacts with SUPT6H, CTD assembly factor 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,695,496...23,737,363
Ensembl chr18:23,695,425...23,736,172 		JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,553,937...23,592,137
Ensembl chr18:23,553,937...23,592,137 		JBrowse link
G Map3k2 mitogen activated protein kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,807,218...23,879,722
Ensembl chr18:23,807,218...23,871,433 		JBrowse link
G Myo7b myosin VIIb ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,588,307...23,669,841
Ensembl chr18:23,588,307...23,669,809 		JBrowse link
G Polr2d RNA polymerase II subunit D ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,418,097...23,425,228
Ensembl chr18:23,418,097...23,425,228 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO 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 OMIM
ClinVar		 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 		JBrowse link
G Sap130 Sin3A associated protein 130 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,244,337...23,345,368
Ensembl chr18:23,267,256...23,345,359 		JBrowse link
G Sft2d3 SFT2 domain containing 3 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,537,105...23,539,305
Ensembl chr18:23,537,105...23,539,305 		JBrowse link
G Uggt1 UDP-glucose glycoprotein glucosyltransferase 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 9:38,355,229...38,468,473
Ensembl chr 9:38,359,089...38,468,467 		JBrowse link
G Wdr33 WD repeat domain 33 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr18:23,432,233...23,535,460
Ensembl chr18:23,432,191...23,468,597 		JBrowse link
autosomal hemophilia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,295,598...69,436,775
Ensembl chr  X:69,295,552...69,436,858 		JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457 		JBrowse link
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519 		JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:106,465,982...106,571,382
Ensembl chr  X:106,466,699...106,571,487 		JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,982,399...109,041,265
Ensembl chr  X:108,984,022...109,041,272 		JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,425,684...19,508,459
Ensembl chr  X:19,487,419...19,508,439 		JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391 		JBrowse link
G Apool apolipoprotein O-like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:77,377,723...77,443,672
Ensembl chr  X:77,377,781...77,443,900 		JBrowse link
G Ar androgen receptor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Arhgap36 Rho GTPase activating protein 36 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:128,780,148...128,787,169
Ensembl chr  X:128,751,900...128,787,161 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
G Arl13a ARF like GTPase 13A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702 		JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,898,969...97,902,874
Ensembl chr  X:97,898,883...97,903,299 		JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,980,662...97,985,523
Ensembl chr  X:97,980,660...97,985,552 		JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,937,115...97,942,098
Ensembl chr  X:97,936,999...97,942,098 		JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912 		JBrowse link
G Armcx5 armadillo repeat containing, X-linked 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,709,921...98,714,347
Ensembl chr  X:98,709,841...98,714,674 		JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,929,032...97,932,031
Ensembl chr  X:97,929,041...97,931,977 		JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,699,881...65,712,224
Ensembl chr  X:65,698,699...65,712,153 		JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,328,325...60,478,031
Ensembl chr  X:60,328,328...60,415,619 		JBrowse link
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,665,345...104,765,271
Ensembl chr  X:104,665,345...104,765,268 		JBrowse link
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:138,564,459...138,752,116
Ensembl chr  X:138,565,836...138,751,204 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Awat1 acyl-CoA wax alcohol acyltransferase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,668,205...65,674,450
Ensembl chr  X:65,668,205...65,674,450 		JBrowse link
G Awat2 acyl-CoA wax alcohol acyltransferase 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,481,676...65,490,562
Ensembl chr  X:65,481,929...65,527,625 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087 		JBrowse link
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,219,014...99,220,518
Ensembl chr  X:99,219,014...99,220,958 		JBrowse link
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,019,847...99,021,375
Ensembl chr  X:99,019,000...99,021,503 		JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,273,270...99,274,799
Ensembl chr  X:99,273,161...99,274,800 		JBrowse link
G Bex4 brain expressed, X-linked 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,131,985...99,133,417
Ensembl chr  X:99,131,942...99,133,531 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:73,768,343...73,861,643
Ensembl chr  X:73,774,340...73,861,622 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787 		JBrowse link
G Capn6 calpain 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,380,774...107,405,489
Ensembl chr  X:107,380,774...107,405,489 		JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835
G Cdx4 caudal type homeo box 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,326,874...68,335,461
Ensembl chr  X:68,326,874...68,335,461 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657 		JBrowse link
G Cetn2 centrin 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,769,944...150,774,833
Ensembl chr  X:150,769,953...150,774,919 		JBrowse link
G Chic1 cysteine-rich hydrophobic domain 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,362,014...68,406,155
Ensembl chr  X:68,361,969...68,437,887 		JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:78,203,200...78,361,996
Ensembl chr  X:78,203,204...78,361,943 		JBrowse link
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921 		JBrowse link
G Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,350,376...67,355,072
Ensembl chr  X:67,350,373...67,355,162 		JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160 		JBrowse link
G Cnga2 cyclic nucleotide gated channel subunit alpha 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,696,999...149,715,051
Ensembl chr  X:149,696,997...149,715,051 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Cpxcr1 CPX chromosome region, candidate 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:81,756,909...81,794,661 JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476 		JBrowse link
G Ct47b1 cancer/testis antigen family 47, member B1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,651,472...115,655,191
Ensembl chr  X:115,651,482...115,655,188 		JBrowse link
G Ct55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:133,502,545...133,515,730
Ensembl chr  X:133,502,869...133,515,529 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cxhxorf49 similar to human chromosome X open reading frame 49 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,911,430...66,915,407
Ensembl chr  X:66,911,431...66,915,293 		JBrowse link
G Cxhxorf66 similar to human chromosome X open reading frame 66 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:138,779,374...138,819,595
Ensembl chr  X:138,779,382...138,785,707 		JBrowse link
G Cylc1 cylicin 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:76,108,111...76,197,431
Ensembl chr  X:76,108,136...76,197,422 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,661,421...71,690,012
Ensembl chr  X:71,663,821...71,690,121 		JBrowse link
G Dach2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:78,718,963...79,018,023
Ensembl chr  X:78,451,593...79,017,592 		JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905 		JBrowse link
G Dcaf12l2 DDB1 and CUL4 associated factor 12-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:123,293,761...123,296,550
Ensembl chr  X:123,294,744...123,296,156 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,614,430...65,637,962
Ensembl chr  X:65,614,430...65,637,962 		JBrowse link
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:92,395,189...93,234,521
Ensembl chr  X:92,395,251...93,229,869 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,859,653...65,911,887
Ensembl chr  X:65,860,172...65,910,322 		JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571 		JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182 		JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,724,419...103,775,633
Ensembl chr  X:103,731,857...103,775,629 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,131,720...115,314,854
Ensembl chr  X:115,131,909...115,314,854 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:62,224,763...62,269,333
Ensembl chr  X:62,228,229...62,269,268 		JBrowse link
G Efnb1 ephrin B1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,257,351...64,270,158
Ensembl chr  X:64,257,351...64,270,157 		JBrowse link
G Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,587,401...127,639,063
Ensembl chr  X:127,590,650...127,630,200 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Enox2 ecto-NOX disulfide-thiol exchanger 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:128,270,941...128,593,074
Ensembl chr  X:128,271,074...128,593,039 		JBrowse link
G Eola2 endothelium and lymphocyte associated ASCH domain 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,064,015...149,068,627
Ensembl chr  X:149,064,041...149,068,627 		JBrowse link
G Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,245,414...67,261,222
Ensembl chr  X:67,245,414...67,280,756 		JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,449,298...100,454,452 JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar Annotator: match by term: Mild hemophilia A ClinVar PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar 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 		JBrowse link
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar 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 		JBrowse link
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,384,230...100,419,935
Ensembl chr  X:100,384,225...100,414,938 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Fgf13 fibroblast growth factor 13 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:137,276,498...137,800,056
Ensembl chr  X:137,276,511...137,800,391 		JBrowse link
G Fgf16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,816,658...70,828,028
Ensembl chr  X:70,817,433...70,878,717 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Fmr1nb FMR1 neighbor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:147,309,613...147,332,426
Ensembl chr  X:147,309,663...147,332,418 		JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,385,241...66,392,115
Ensembl chr  X:66,385,558...66,392,115 		JBrowse link
G Foxr2 forkhead box R2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:18,242,420...18,276,095
Ensembl chr  X:18,244,255...18,245,163 		JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771 		JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,964,168...104,113,864
Ensembl chr  X:104,043,194...104,111,968 		JBrowse link
G Ftx FTX transcript, XIST regulator ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,588,349...68,630,338 JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:2563431 PMID:31690835 NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,244,745...150,501,566
Ensembl chr  X:150,261,607...150,501,559 		JBrowse link
G Gabre gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,060,035...150,078,773
Ensembl chr  X:150,060,040...150,078,693 		JBrowse link
G Gabrq gamma-aminobutyric acid type A receptor subunit theta ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,696,161...150,712,948
Ensembl chr  X:150,696,427...150,709,919 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,826,273...65,835,361
Ensembl chr  X:65,826,574...65,835,361 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Gpr119 G protein-coupled receptor 119 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,852,145...127,858,198
Ensembl chr  X:127,852,145...127,858,198 		JBrowse link
G Gpr174 G protein-coupled receptor 174 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,355,452...72,396,146
Ensembl chr  X:72,355,033...72,397,658 		JBrowse link
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,368,900...149,373,486
Ensembl chr  X:149,368,900...149,373,486 		JBrowse link
G Gprasp1 G protein-coupled receptor associated sorting protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,764,853...98,772,685
Ensembl chr  X:98,709,841...98,772,851 		JBrowse link
G Gprasp2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,817,668...98,823,814
Ensembl chr  X:98,817,593...98,824,402 		JBrowse link
G Gprasp3 G protein-coupled receptor associated sorting protein family member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,847,591...98,854,949
Ensembl chr  X:98,817,593...98,854,545 		JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,238,515...120,504,106
Ensembl chr  X:120,238,534...120,504,096 		JBrowse link
G Gucy2f guanylate cyclase 2F ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,710,356...105,808,183
Ensembl chr  X:105,710,356...105,808,183 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar 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 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Hdx highly divergent homeobox ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:76,552,539...76,697,177
Ensembl chr  X:76,560,665...76,869,972 		JBrowse link
G Heph hephaestin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:61,151,131...61,402,980
Ensembl chr  X:61,296,345...61,402,980 		JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,296,303...149,301,290
Ensembl chr  X:149,296,375...149,301,292 		JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:74,085,871...74,094,488
Ensembl chr  X:74,085,875...74,094,441 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:130,966,547...131,261,629
Ensembl chr  X:130,968,385...131,261,492 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,025,976...149,046,641
Ensembl chr  X:149,025,976...149,046,663 		JBrowse link
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,582,832...65,605,078
Ensembl chr  X:65,582,821...65,606,049 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 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 		JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381 		JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,961,509...102,271,753
Ensembl chr  X:100,961,812...102,271,753 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823 		JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,258,117...134,325,706
Ensembl chr  X:134,258,125...134,309,617 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,344,020...105,360,004 JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,572,537...66,577,174
Ensembl chr  X:66,572,537...66,577,174 		JBrowse link
G Itih6 inter-alpha-trypsin inhibitor heavy chain family member 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,753,322...19,790,381
Ensembl chr  X:19,753,625...19,789,500 		JBrowse link
G Itm2a integral membrane protein 2A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,486,383...72,492,344
Ensembl chr  X:72,486,381...72,492,363 		JBrowse link
G Jpx JPX transcript, XIST activator ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,511,491...68,665,132 JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,930,398...105,931,013
Ensembl chr  X:105,930,398...105,931,013 		JBrowse link
G Kiaa1210 KIAA1210 homolog ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,675,412...115,725,950
Ensembl chr  X:115,675,427...115,725,925 		JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,721,746...65,824,277
Ensembl chr  X:65,721,779...65,824,139 		JBrowse link
G Klf8 KLF transcription factor 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:17,950,045...18,132,980
Ensembl chr  X:17,958,843...18,133,182 		JBrowse link
G Klhl13 kelch-like family member 13 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:113,942,309...114,107,299
Ensembl chr  X:113,942,309...114,107,321 		JBrowse link
G Klhl4 kelch-like family member 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:79,429,193...79,719,482
Ensembl chr  X:79,622,113...79,719,480 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687 		JBrowse link
G Ldoc1 LDOC1, regulator of NFKB signaling ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:139,965,509...140,074,355
Ensembl chr  X:139,965,509...140,074,355 		JBrowse link
G Lhfpl1 LHFPL tetraspan subfamily member 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,815,596...108,873,460
Ensembl chr  X:108,815,596...108,873,460 		JBrowse link
G LOC100912195 protein BEX1-like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr 1:110,047,861...110,051,812 JBrowse link
G LOC120099525 small nucleolar RNA SNORA11 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,735,030...19,735,144
Ensembl chr  X:19,735,030...19,735,144 		JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,565,214...115,603,886
Ensembl chr  X:115,565,267...115,598,809 		JBrowse link
G Lpar4 lysophosphatidic acid receptor 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,033,486...72,046,978
Ensembl chr  X:72,033,486...72,046,977 		JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,091,728...111,174,225
Ensembl chr  X:111,092,814...111,174,210 		JBrowse link
G Luzp4 leucine zipper protein 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,280,490...111,321,363
Ensembl chr  X:111,280,549...111,321,359 		JBrowse link
G Magea10 MAGE family member A10 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,212,708...150,217,954
Ensembl chr  X:150,213,245...150,214,213 		JBrowse link
G Magea9 MAGE family member A9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:142,619,282...142,624,654
Ensembl chr  X:142,619,395...142,624,653 		JBrowse link
G Magec2 MAGE family member C2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:140,610,610...140,615,484
Ensembl chr  X:140,606,825...140,615,471 		JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,733,593...19,741,769
Ensembl chr  X:19,733,597...19,740,477 		JBrowse link
G Magee1 MAGE family member E1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,189,242...70,192,789
Ensembl chr  X:70,189,187...70,192,810 		JBrowse link
G Magee2 MAGE family member E2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,885,751...69,944,824
Ensembl chr  X:69,942,533...69,944,657 		JBrowse link
G Mageh1 MAGE family member H1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:18,350,015...18,351,271
Ensembl chr  X:18,349,774...18,351,516 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Mbnl3 muscleblind-like splicing regulator 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:130,641,942...130,737,179
Ensembl chr  X:130,648,538...130,737,056 		JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446 		JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:117,350,723...117,362,504
Ensembl chr  X:117,350,889...117,362,504 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,354,692...104,456,757
Ensembl chr  X:104,355,316...104,453,473 		JBrowse link
G Mir105 microRNA 105 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,438,529...150,438,601
Ensembl chr  X:150,438,529...150,438,601 		JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,422,584...132,422,661
Ensembl chr  X:132,422,584...132,422,661 		JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,422,072...132,422,167
Ensembl chr  X:132,422,072...132,422,167 		JBrowse link
G Mir223 microRNA 223 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mir224 microRNA 224 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,065,088...150,065,169
Ensembl chr  X:150,065,088...150,065,169 		JBrowse link
G Mir322 microRNA 322 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,806,594...132,806,688
Ensembl chr  X:132,806,594...132,806,688 		JBrowse link
G Mir448 microRNA 448 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:110,829,918...110,830,029
Ensembl chr  X:110,829,918...110,830,029 		JBrowse link
G Mir503 microRNA 503 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,806,303...132,806,373
Ensembl chr  X:132,806,303...132,806,373 		JBrowse link
G Mmgt1 membrane magnesium transporter 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,408,463...134,420,798
Ensembl chr  X:134,408,466...134,420,729 		JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,477,366...103,529,026
Ensembl chr  X:103,480,603...103,528,956 		JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728 		JBrowse link
G Mospd1 motile sperm domain containing 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 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 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:31690835
G Msn moesin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,996,043...61,064,011
Ensembl chr  X:60,995,951...61,065,628 		JBrowse link
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr18:126,189...130,123 JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860 		JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Nalf2 NALCN channel auxiliary factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,925,100...64,951,074
Ensembl chr  X:64,925,051...64,951,077 		JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,174,051...68,176,449
Ensembl chr  X:68,173,987...68,176,666 		JBrowse link
G Nap1l3 nucleosome assembly protein 1-like 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:88,347,595...88,350,393
Ensembl chr  X:88,347,598...88,350,393 		JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,088,076...69,219,253
Ensembl chr  X:69,088,076...69,112,930 		JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,969,953...67,209,464
Ensembl chr  X:66,970,151...67,200,911 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945 		JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,126,341...116,144,554
Ensembl chr  X:116,128,798...116,144,628 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nrk Nik related kinase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,365,765...102,462,957
Ensembl chr  X:102,365,765...102,459,657 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Nup62cl nucleoporin 62 C-terminal like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,668,458...103,724,957
Ensembl chr  X:103,668,455...103,724,081 		JBrowse link
G Nxf2 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,135,953...98,157,117
Ensembl chr  X:98,135,950...98,157,089 		JBrowse link
G Nxf3 nuclear RNA export factor 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,025,901...99,050,409
Ensembl chr  X:99,025,901...99,039,261 		JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526 		JBrowse link
G Nxt2 nuclear transport factor 2-like export factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,855,616...105,862,902
Ensembl chr  X:105,855,608...105,862,899 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,771,278...66,816,148
Ensembl chr  X:66,771,349...66,816,146 		JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:63,599,746...63,976,678
Ensembl chr  X:63,603,042...63,976,633 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Otud6a OTU deubiquitinase 6A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,514,113...65,516,287
Ensembl chr  X:65,514,191...65,515,063 		JBrowse link
G P2ry10 P2Y receptor family member 10 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,121,558...72,207,174
Ensembl chr  X:72,111,264...72,212,265 		JBrowse link
G P2ry4 pyrimidinergic receptor P2Y4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,681,680...65,717,404
Ensembl chr  X:65,683,232...65,721,748 		JBrowse link
G Pabir2 PABIR family member 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,989,124...133,015,625
Ensembl chr  X:132,989,124...133,015,580 		JBrowse link
G Pabir3 PABIR family member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:133,020,162...133,083,801
Ensembl chr  X:133,020,190...133,083,805 		JBrowse link
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,023,845...68,026,508 JBrowse link
G Pabpc1l2b poly(A) binding protein cytoplasmic 1 like 2B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835
G Pabpc5 poly A binding protein, cytoplasmic 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:85,637,763...85,641,235
Ensembl chr  X:85,638,574...85,639,722 		JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,116,308...107,374,342
Ensembl chr  X:107,260,898...107,368,314 		JBrowse link
G Pasd1 PAS domain containing repressor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,617,933...149,639,214
Ensembl chr  X:149,620,972...149,638,675 		JBrowse link
G Pbdc1 polysaccharide biosynthesis domain containing 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,154,106...70,197,827
Ensembl chr  X:70,154,106...70,184,552 		JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:86,058,348...86,751,078
Ensembl chr  X:86,058,394...86,747,036 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Pdzd11 PDZ domain containing 11 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,718,689...65,721,742
Ensembl chr  X:65,704,067...65,721,642 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,508,522...19,562,165
Ensembl chr  X:19,508,546...19,562,182 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,232,066...67,238,709
Ensembl chr  X:67,232,081...67,238,702 		JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,580,938...64,585,846
Ensembl chr  X:64,580,849...64,585,833 		JBrowse link
G Plac1 placenta enriched 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,821,347...132,955,143
Ensembl chr  X:132,821,347...132,985,668 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839 		JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,880,865...150,882,789
Ensembl chr  X:150,880,865...150,882,789 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037 		JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:77,683,128...77,749,827
Ensembl chr  X:77,683,128...77,749,688 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:75,858,646...75,859,923
Ensembl chr  X:75,858,646...75,859,923 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:123,978,010...123,979,928
Ensembl chr  X:123,977,985...123,979,942 		JBrowse link
G Prrg3 proline rich and Gla domain 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,666,498...149,689,353
Ensembl chr  X:149,670,257...149,677,373 		JBrowse link
G Psmd10 proteasome 26S subunit, non-ATPase 10 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,656,809...104,665,122
Ensembl chr  X:104,656,812...104,665,097 		JBrowse link
G Pwwp3b PWWP domain containing 3B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,804,416...102,838,580
Ensembl chr  X:102,804,520...102,838,574 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Radx RPA1 related single stranded DNA binding protein, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,089,284...103,176,840
Ensembl chr  X:103,089,284...103,176,838 		JBrowse link
G Rap2c RAP2C, member of RAS oncogene family ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:130,504,554...130,517,671
Ensembl chr  X:130,504,698...130,518,328 		JBrowse link
G Rbm41 RNA binding motif protein 41 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,605,732...103,660,381
Ensembl chr  X:103,608,585...103,660,381 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Rbmx2 RNA binding motif protein, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,888,514...127,896,239
Ensembl chr  X:127,888,438...127,896,869 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644 		JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870 		JBrowse link
G Ripply1 ripply transcriptional repressor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,436,731...103,440,904
Ensembl chr  X:103,436,729...103,443,349 		JBrowse link
G Rlim ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,983,259...69,004,368
Ensembl chr  X:68,988,375...69,004,271 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762 		JBrowse link
G Rnf128 ring finger protein 128 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,183,643...103,298,431
Ensembl chr  X:103,183,831...103,298,423 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892 		JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 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 		JBrowse link
G Rps4x ribosomal protein S4, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 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 		JBrowse link
G Rps6ka6 ribosomal protein S6 kinase A6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:76,353,316...76,454,502
Ensembl chr  X:76,353,760...76,454,484 		JBrowse link
G RragB Ras-related GTP binding B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:18,184,619...18,234,639
Ensembl chr  X:18,184,992...18,234,639 		JBrowse link
G Rtl3 retrotransposon Gag like 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,947,343...71,951,008
Ensembl chr  X:71,948,253...71,950,121 		JBrowse link
G Rtl4 retrotransposon Gag like 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,231,052...108,641,768
Ensembl chr  X:108,633,651...108,640,050 		JBrowse link
G Rtl5 retrotransposon Gag like 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,183,948...67,188,747
Ensembl chr  X:67,184,154...67,188,809 		JBrowse link
G Rtl8a retrotransposon Gag like 8A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:133,414,027...133,415,240
Ensembl chr  X:133,414,030...133,415,240 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:106,708,454...106,720,607
Ensembl chr  X:106,714,868...106,719,794 		JBrowse link
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,326,815...127,341,521
Ensembl chr  X:127,326,859...127,341,519 		JBrowse link
G Satl1 spermidine/spermine N1-acetyl transferase-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:77,453,357...77,469,100
Ensembl chr  X:77,453,357...77,469,158 		JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,153,255...116,230,334
Ensembl chr  X:116,153,255...116,230,115 		JBrowse link
G Serpina7 serpin family A member 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,663,242...102,722,319
Ensembl chr  X:102,663,405...102,669,040 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Sh3bgrl1 SH3 domain binding glutamate rich protein like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:74,167,029...74,263,783
Ensembl chr  X:74,166,871...74,263,783 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771 		JBrowse link
G Slc25a14 solute carrier family 25 member 14 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,807,630...127,845,823
Ensembl chr  X:127,807,449...127,845,823 		JBrowse link
G Slc25a43 solute carrier family 25, member 43 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,977,437...116,011,789
Ensembl chr  X:115,977,510...116,011,205 		JBrowse link
G Slc25a5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,031,896...116,034,963
Ensembl chr  X:116,031,803...116,034,967 		JBrowse link
G Slc25a53 solute carrier family 25, member 53 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,306,917...100,319,662
Ensembl chr  X:100,306,915...100,319,863 		JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,210,071...66,216,482
Ensembl chr  X:66,210,081...66,215,708 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Slitrk2 SLIT and NTRK-like family, member 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:145,246,448...145,259,983
Ensembl chr  X:145,246,460...145,271,220 		JBrowse link
G Slitrk4 SLIT and NTRK-like family, member 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:142,706,495...142,718,968
Ensembl chr  X:142,706,338...142,718,575 		JBrowse link
G Smarca1 SNF2 related chromatin remodeling ATPase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:126,980,201...127,066,385
Ensembl chr  X:126,994,947...127,066,347 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,226,995...66,356,945
Ensembl chr  X:66,227,053...66,356,950 		JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,292,030...116,293,660
Ensembl chr  X:116,292,030...116,293,660 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Spin2a spindlin family member 2A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:17,511,018...17,513,001
Ensembl chr  X:17,511,022...17,513,001 		JBrowse link
G Spin2b spindlin family member 2B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:17,190,573...17,192,351
Ensembl chr  X:17,180,474...17,192,351 		JBrowse link
G Spin4 spindlin family, member 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:59,888,728...59,892,817
Ensembl chr  X:59,891,581...59,892,330 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,974,687...121,105,677
Ensembl chr  X:120,974,857...121,105,677 		JBrowse link
G Stard8 StAR-related lipid transfer domain containing 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,079,079...64,196,052
Ensembl chr  X:64,124,574...64,196,052 		JBrowse link
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,087,626...116,114,159
Ensembl chr  X:116,060,929...116,114,159 		JBrowse link
G Stk26 serine/threonine kinase 26 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:130,325,064...130,375,674
Ensembl chr  X:130,310,885...130,374,291 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,135,496...97,185,867
Ensembl chr  X:97,135,500...97,185,854 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,640,915...66,716,543
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,660,222...97,675,241
Ensembl chr  X:97,660,222...97,675,023 		JBrowse link
G Taf9b TATA-box binding protein associated factor 9b ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,289,290...71,300,142
Ensembl chr  X:71,289,290...71,300,604 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133 		JBrowse link
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,010,677...100,012,637
Ensembl chr  X:100,010,690...100,012,654 		JBrowse link
G Tceal5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,204,422...99,207,373
Ensembl chr  X:99,204,429...99,207,353 		JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,228,405...99,230,551
Ensembl chr  X:99,228,458...99,230,543 		JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,171,307...99,173,377
Ensembl chr  X:99,171,177...99,173,710 		JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,245,645...99,247,720
Ensembl chr  X:99,228,458...99,247,763 		JBrowse link
G Tcp11x2 t-complex 11 family, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,591,191...98,640,800
Ensembl chr  X:98,591,189...98,640,763 		JBrowse link
G Tenm1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:121,400,466...122,289,877
Ensembl chr  X:121,403,649...122,290,207 		JBrowse link
G Tent5d terminal nucleotidyltransferase 5D ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,901,287...72,974,562
Ensembl chr  X:72,901,241...72,970,573 		JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187 		JBrowse link
G Tex13a testis expressed 13A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:101,598,992...101,601,951
Ensembl chr  X:101,600,495...101,601,933 		JBrowse link
G Tex13b testis expressed 13B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,490,937...104,511,224
Ensembl chr  X:104,490,091...104,494,201 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tgif2lx2 TGFB-induced factor homeobox 2-like, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:84,109,203...84,110,264
Ensembl chr  X:84,109,220...84,110,274 		JBrowse link
G Thoc2 THO complex subunit 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,634,966...120,749,569
Ensembl chr  X:120,634,968...120,749,513 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:106,288,019...106,448,642
Ensembl chr  X:106,289,371...106,448,640 		JBrowse link
G Tmem185a transmembrane protein 185A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,143,026...149,167,757
Ensembl chr  X:149,143,031...149,167,757 		JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386 		JBrowse link
G Tmsb15b2 thymosin beta 15B2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,298,705...100,300,820
Ensembl chr  X:100,298,514...100,300,886 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,057,137...97,072,634
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tro trophinin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,563,395...19,574,507
Ensembl chr  X:19,563,517...19,572,953 		JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,946,163...108,230,991
Ensembl chr  X:107,939,131...108,230,991 		JBrowse link
G Trpc5os TRPC5 opposite strand ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,025,172...108,044,201
Ensembl chr  X:108,024,924...108,046,581 		JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,217,898...104,277,886
Ensembl chr  X:104,217,925...104,276,861 		JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,092,394...97,099,659
Ensembl chr  X:97,092,388...97,099,309 		JBrowse link
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,114,339...116,125,076
Ensembl chr  X:116,113,875...116,125,070 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:17,853,086...17,856,505
Ensembl chr  X:17,853,114...17,856,505 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236 		JBrowse link
G Uprt uracil phosphoribosyltransferase homolog ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,516,573...69,546,811
Ensembl chr  X:69,516,738...69,546,797 		JBrowse link
G Usp26 ubiquitin specific peptidase 26 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:131,317,200...131,363,964
Ensembl chr  X:131,319,194...131,363,970 		JBrowse link
G Usp51 ubiquitin specific peptidase 51 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:18,374,940...18,381,472
Ensembl chr  X:18,376,930...18,379,888 		JBrowse link
G Utp14a UTP14A small subunit processome component ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,439,282...127,464,634
Ensembl chr  X:127,439,268...127,464,633 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835
G Vcf2 VCP nuclear cofactor family member 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,310,182...19,393,156
Ensembl chr  X:19,349,560...19,378,486 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Vma21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,491,709...149,501,010
Ensembl chr  X:149,491,738...149,499,272 		JBrowse link
G Vsig1 V-set and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,607,031...104,640,128
Ensembl chr  X:104,607,031...104,639,249 		JBrowse link
G Vsig4 V-set and immunoglobulin domain containing 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:61,144,926...61,170,212
Ensembl chr  X:61,144,928...61,170,212 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:25741868 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Wdr44 WD repeat domain 44 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:114,481,890...114,587,307
Ensembl chr  X:114,482,006...114,587,224 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
G Xist X inactive specific transcript ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,474,987...68,492,500 JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,287,765...127,317,036
Ensembl chr  X:127,287,979...127,317,223 		JBrowse link
G Yipf6 Yip1 domain family, member 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,039,602...64,051,715
Ensembl chr  X:64,040,952...64,054,702 		JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023 		JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,433,444...115,436,691
Ensembl chr  X:115,433,259...115,436,692 		JBrowse link
G Zcchc13 zinc finger CCHC-type containing 13 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,643,568...68,644,671
Ensembl chr  X:68,643,549...68,665,131 		JBrowse link
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,568,086...69,701,756
Ensembl chr  X:69,574,124...69,701,756 		JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,352,340...127,388,245
Ensembl chr  X:127,352,345...127,388,245 		JBrowse link
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810 		JBrowse link
G Zfp280c zinc finger protein 280C ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,716,403...127,807,600
Ensembl chr  X:127,717,983...127,779,825 		JBrowse link
G Zfp449 zinc finger protein 449 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,120,820...134,140,921
Ensembl chr  X:134,122,636...134,140,924 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:77,646,300...77,679,398
Ensembl chr  X:77,646,558...77,678,045 		JBrowse link
G Zfp75d zinc finger protein 75D ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,035,116...134,053,765
Ensembl chr  X:134,036,143...134,051,519 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177 		JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
G Zmat1 zinc finger, matrin-type 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,168,388...98,199,415
Ensembl chr  X:98,168,456...98,199,733 		JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,528,585...66,544,234
Ensembl chr  X:66,528,585...66,544,782 		JBrowse link
G Zxda zinc finger, X-linked, duplicated A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:59,760,871...59,766,010
Ensembl chr  X:59,763,210...59,765,903 		JBrowse link
G Zxdb zinc finger, X-linked, duplicated B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 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 		JBrowse link
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 Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive OMIM
ClinVar		 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 		JBrowse link
Bernard-Soulier syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha treatment ISO
ISS		 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 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta severity ISO
ISS		 ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome
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:25741868 PMID:28492532 PMID:31064749 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 		JBrowse link
G Gp9 glycoprotein IX (platelet) severity ISO 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
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 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14717981 RGD:1580643 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome ClinVar PMID:10887115 PMID:17109744 PMID:25741868 PMID:28492532 PMID:31064749 More... NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701 		JBrowse link
Bernard-Soulier Syndrome Type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 ClinVar 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 		JBrowse link
Bernard-Soulier syndrome type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant ClinVar
OMIM		 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 		JBrowse link
Bernard-Soulier Syndrome, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO 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 		JBrowse link
Bernard-Soulier Syndrome, Type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type ClinVar 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 		JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type ClinVar 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 		JBrowse link
Bernard-Soulier Syndrome, Type C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein IX (platelet) ISO DNA:missense mutations:cds:p.D21G, p.N45S (human)
ClinVar Annotator: match by term: Bernard-Soulier syndrome type C		 ClinVar
RGD		 PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:9886312 More... RGD:1599275 NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110 		JBrowse link
combined deficiency of vitamin K-dependent clotting factors 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF | ClinVar Annotator: match by term: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III | ClinVar Annotator: match by term: GGCX-related condition | ClinVar Annotator: match by term: GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:P.D31N,W157R,T157K(human)
DNA:mutations:splice site,exon:		 OMIM
ClinVar
CTD
RGD		 PMID:2145029 PMID:9845520 PMID:10934213 PMID:11071668 PMID:15287948 More... RGD:11040511, RGD:11040510 NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT ClinVar NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
combined deficiency of vitamin K-dependent clotting factors 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, type 2
DNA:missense mutation: :p.R98W (human) 		OMIM
ClinVar
RGD		 PMID:11154138 PMID:14765194 PMID:15358623 PMID:15883587 PMID:16270629 More... RGD:1303972 NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008 		JBrowse link
congenital afibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120137 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730 		JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency		 ClinVar PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 More... NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency | ClinVar Annotator: match by term: Hypofibrinogenemia
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds: (human)		 ClinVar
CTD
OMIM
RGD		 PMID:237956 PMID:1391954 PMID:2738154 PMID:3345340 PMID:3590111 More... RGD:5688762, RGD:11040559 NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FGB-related condition | ClinVar Annotator: match by term: Hypofibrinogenemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1565641 PMID:3194892 PMID:10666208 PMID:10688828 PMID:11468164 More... RGD:737709 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979 		JBrowse link
G Fgg fibrinogen gamma chain ISO
ISS		 DNA:snp:intron:IVS3+5G>A (human)
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FIBRINOGEN PARIS 1 | ClinVar Annotator: match by term: Hypofibrinogenemia
OMIM:202400
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:exon:p.R134X (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1249208 PMID:1471077 PMID:1733971 PMID:2512677 PMID:2617471 More... RGD:737710, RGD:11352676 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
Congenital Dysfibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1 | ClinVar Annotator: match by term: FIBRINOGEN CARACAS 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1675636 PMID:1912564 PMID:2738154 PMID:3345340 PMID:3590111 More... NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Fgb fibrinogen beta chain ISO DNA:mutation:missense mutation:g.g.9692A>G(human)
ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:p.w467X(human)		 ClinVar
CTD
OMIM
RGD		 PMID:10688828 PMID:19229055 PMID:19420351 PMID:20978265 PMID:21959590 More... RGD:10450765, RGD:10450766 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979 		JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:deletion:intron:IVS9+1delG (human)
ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 3
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.N308T (c.1001A>C) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:1733971 PMID:2328317 PMID:2496144 PMID:2512677 PMID:2617471 More... RGD:11352672, RGD:11352691 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
Congenital Hypodysfibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: FIBRINOGEN ROUEN 1 | ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital ClinVar PMID:2742828 PMID:4084461 PMID:6575689 PMID:9536098 PMID:10891444 More... NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2 | ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2 | ClinVar Annotator: match by term: FIBRINOGEN LONGMONT ClinVar PMID:1565641 PMID:3194892 PMID:11468164 PMID:23061815 PMID:24679643 More... NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979 		JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:missense mutation:exon:p.R375W (human)
ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia
DNA:frameshift mutation: :c.554delA (human)
DNA:missense mutations: :p.D316N, p.G366S (human)
DNA:missense mutation: :p.S313N (7590G>A) (human)
DNA:missense mutations:exon:p.W208L (g.5792G>T), p.K232T (g.5864A>C) (human)
DNA:missense mutation:exon:p.T277R (7482G>C) (human)
DNA:missense mutation:exon:p.A341D (human		 ClinVar
RGD		 PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 More... RGD:11352674, RGD:11352694, RGD:11352682, RGD:11352681, RGD:11352680, RGD:11352678, RGD:11352675 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
Congenital Prothrombin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II, thrombin ISO DNA:deletion, missense mutations:cds:
ClinVar Annotator: match by term: Congenital prothrombin deficiency | ClinVar Annotator: match by term: Hereditary factor II deficiency disease | ClinVar Annotator: match by term: Prolonged prothrombin time		 OMIM
ClinVar
RGD		 PMID:444582 PMID:625142 PMID:1334372 PMID:1349838 PMID:1421398 More... RGD:11565075 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Congenital prothrombin deficiency ClinVar PMID:28492532 NCBI chr 3:77,615,595...77,621,325 JBrowse link
Congenital Thrombotic Disease, due to Protein C Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Reduced protein C activity		 CTD
ClinVar		 PMID:1301954 PMID:1301959 PMID:1511988 PMID:1511989 PMID:1868249 More... NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2
DNA:missense mutation: :p.D122V (human)		 OMIM
ClinVar
RGD		 PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:31064749 More... RGD:11062141 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841 		JBrowse link
factor V deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V susceptibility ISO DNA:nonsense,misense mutations:cds:c.3571C>T, c.1691G>A(human)
ClinVar Annotator: match by term: Factor V deficiency | ClinVar Annotator: match by term: LABILE FACTOR DEFICIENCY | ClinVar Annotator: match by term: PARAHEMOPHILIA
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... RGD:11564334 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300
ClinVar Annotator: match by term: Factor V deficiency		 ClinVar
RGD		 PMID:25741868 PMID:9546392 RGD:1600100 NCBI chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:18695002 RGD:11060145 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
factor VII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Factor VII deficiency ClinVar PMID:10984565 PMID:12181036 PMID:25741868 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141 		JBrowse link
G F7 coagulation factor VII susceptibility ISO DNA:missense:R304Q, C310F
ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: Factor VII deficiency
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, insertion:exon:p.R277C, g.11520-11521insT (human)		 ClinVar
OMIM
CTD
RGD		 PMID:1634227 PMID:2070047 PMID:6812354 PMID:7919338 PMID:7974346 More... RGD:1601133, RGD:11049524 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
factor VIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,295,598...69,436,775
Ensembl chr  X:69,295,552...69,436,858 		JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457 		JBrowse link
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519 		JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:106,465,982...106,571,382
Ensembl chr  X:106,466,699...106,571,487 		JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:108,982,399...109,041,265
Ensembl chr  X:108,984,022...109,041,272 		JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,425,684...19,508,459
Ensembl chr  X:19,487,419...19,508,439 		JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391 		JBrowse link
G Apool apolipoprotein O-like ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:77,377,723...77,443,672
Ensembl chr  X:77,377,781...77,443,900 		JBrowse link
G Ar androgen receptor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Arhgap36 Rho GTPase activating protein 36 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:128,780,148...128,787,169
Ensembl chr  X:128,751,900...128,787,161 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
G Arl13a ARF like GTPase 13A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702 		JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,898,969...97,902,874
Ensembl chr  X:97,898,883...97,903,299 		JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,980,662...97,985,523
Ensembl chr  X:97,980,660...97,985,552 		JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,937,115...97,942,098
Ensembl chr  X:97,936,999...97,942,098 		JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912 		JBrowse link
G Armcx5 armadillo repeat containing, X-linked 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:98,709,921...98,714,347
Ensembl chr  X:98,709,841...98,714,674 		JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,929,032...97,932,031
Ensembl chr  X:97,929,041...97,931,977 		JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,699,881...65,712,224
Ensembl chr  X:65,698,699...65,712,153 		JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:60,328,325...60,478,031
Ensembl chr  X:60,328,328...60,415,619 		JBrowse link
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,665,345...104,765,271
Ensembl chr  X:104,665,345...104,765,268 		JBrowse link
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:138,564,459...138,752,116
Ensembl chr  X:138,565,836...138,751,204 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Awat1 acyl-CoA wax alcohol acyltransferase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,668,205...65,674,450
Ensembl chr  X:65,668,205...65,674,450 		JBrowse link
G Awat2 acyl-CoA wax alcohol acyltransferase 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,481,676...65,490,562
Ensembl chr  X:65,481,929...65,527,625 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087 		JBrowse link
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,219,014...99,220,518
Ensembl chr  X:99,219,014...99,220,958 		JBrowse link
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,019,847...99,021,375
Ensembl chr  X:99,019,000...99,021,503 		JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,273,270...99,274,799
Ensembl chr  X:99,273,161...99,274,800 		JBrowse link
G Bex4 brain expressed, X-linked 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,131,985...99,133,417
Ensembl chr  X:99,131,942...99,133,531 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:73,768,343...73,861,643
Ensembl chr  X:73,774,340...73,861,622 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787 		JBrowse link
G C3 complement C3 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C5 complement C5 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994 		JBrowse link
G Capn6 calpain 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:107,380,774...107,405,489
Ensembl chr  X:107,380,774...107,405,489 		JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Cd40lg CD40 ligand treatment ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar
RGD		 PMID:31690835 PMID:11776297 RGD:11352263 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835
G Cdx4 caudal type homeo box 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,326,874...68,335,461
Ensembl chr  X:68,326,874...68,335,461 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657 		JBrowse link
G Cetn2 centrin 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,769,944...150,774,833
Ensembl chr  X:150,769,953...150,774,919 		JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G Chic1 cysteine-rich hydrophobic domain 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,362,014...68,406,155
Ensembl chr  X:68,361,969...68,437,887 		JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:78,203,200...78,361,996
Ensembl chr  X:78,203,204...78,361,943 		JBrowse link
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921 		JBrowse link
G Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,350,376...67,355,072
Ensembl chr  X:67,350,373...67,355,162 		JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160 		JBrowse link
G Cnga2 cyclic nucleotide gated channel subunit alpha 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,696,999...149,715,051
Ensembl chr  X:149,696,997...149,715,051 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:31690835 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:31690835 NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Cpxcr1 CPX chromosome region, candidate 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:81,756,909...81,794,661 JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476 		JBrowse link
G Ct47b1 cancer/testis antigen family 47, member B1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,651,472...115,655,191
Ensembl chr  X:115,651,482...115,655,188 		JBrowse link
G Ct55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:133,502,545...133,515,730
Ensembl chr  X:133,502,869...133,515,529 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cxhxorf49 similar to human chromosome X open reading frame 49 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,911,430...66,915,407
Ensembl chr  X:66,911,431...66,915,293 		JBrowse link
G Cxhxorf66 similar to human chromosome X open reading frame 66 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:138,779,374...138,819,595
Ensembl chr  X:138,779,382...138,785,707 		JBrowse link
G Cylc1 cylicin 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:76,108,111...76,197,431
Ensembl chr  X:76,108,136...76,197,422 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,661,421...71,690,012
Ensembl chr  X:71,663,821...71,690,121 		JBrowse link
G Dach2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:78,718,963...79,018,023
Ensembl chr  X:78,451,593...79,017,592 		JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905 		JBrowse link
G Dcaf12l2 DDB1 and CUL4 associated factor 12-like 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:123,293,761...123,296,550
Ensembl chr  X:123,294,744...123,296,156 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,614,430...65,637,962
Ensembl chr  X:65,614,430...65,637,962 		JBrowse link
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:92,395,189...93,234,521
Ensembl chr  X:92,395,251...93,229,869 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,859,653...65,911,887
Ensembl chr  X:65,860,172...65,910,322 		JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571 		JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182 		JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,724,419...103,775,633
Ensembl chr  X:103,731,857...103,775,629 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,131,720...115,314,854
Ensembl chr  X:115,131,909...115,314,854 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:62,224,763...62,269,333
Ensembl chr  X:62,228,229...62,269,268 		JBrowse link
G Efnb1 ephrin B1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:64,257,351...64,270,158
Ensembl chr  X:64,257,351...64,270,157 		JBrowse link
G Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,587,401...127,639,063
Ensembl chr  X:127,590,650...127,630,200 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Enox2 ecto-NOX disulfide-thiol exchanger 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:128,270,941...128,593,074
Ensembl chr  X:128,271,074...128,593,039 		JBrowse link
G Eola2 endothelium and lymphocyte associated ASCH domain 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,064,015...149,068,627
Ensembl chr  X:149,064,041...149,068,627 		JBrowse link
G Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,245,414...67,261,222
Ensembl chr  X:67,245,414...67,280,756 		JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,449,298...100,454,452 JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Hemophilia ClinVar PMID:25741868 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G F8 coagulation factor VIII treatment ISO
ISS
IMP
IAGP		 ClinVar Annotator: match by term: F8-related condition | ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital | ClinVar Annotator: match by term: Hemophilia, classic
OMIM:306700
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... RGD:1582357, RGD:150520060, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage treatment IMP RGD PMID:24931420 PMID:31899798 RGD:11530071, RGD:150520060
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964
G F8em1Mcwi coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi treatment IMP RGD PMID:31899798 RGD:150520060
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar 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 		JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor 8 deficiency, congenital		 CTD
ClinVar		 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 		JBrowse link
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,384,230...100,419,935
Ensembl chr  X:100,384,225...100,414,938 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Fcgr2a Fc gamma receptor 2A susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgf13 fibroblast growth factor 13 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:137,276,498...137,800,056
Ensembl chr  X:137,276,511...137,800,391 		JBrowse link
G Fgf16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,816,658...70,828,028
Ensembl chr  X:70,817,433...70,878,717 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Fmr1nb FMR1 neighbor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:147,309,613...147,332,426
Ensembl chr  X:147,309,663...147,332,418 		JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,385,241...66,392,115
Ensembl chr  X:66,385,558...66,392,115 		JBrowse link
G Foxr2 forkhead box R2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:18,242,420...18,276,095
Ensembl chr  X:18,244,255...18,245,163 		JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771 		JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,964,168...104,113,864
Ensembl chr  X:104,043,194...104,111,968 		JBrowse link
G Ftx FTX transcript, XIST regulator ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,588,349...68,630,338 JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:2105106 PMID:2563431 PMID:31690835 NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,244,745...150,501,566
Ensembl chr  X:150,261,607...150,501,559 		JBrowse link
G Gabre gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,060,035...150,078,773
Ensembl chr  X:150,060,040...150,078,693 		JBrowse link
G Gabrq gamma-aminobutyric acid type A receptor subunit theta ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,696,161...150,712,948
Ensembl chr  X:150,696,427...150,709,919 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,826,273...65,835,361
Ensembl chr  X:65,826,574...65,835,361 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Gpr119 G protein-coupled receptor 119 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,852,145...127,858,198
Ensembl chr  X:127,852,145...127,858,198 		JBrowse link
G Gpr174 G protein-coupled receptor 174 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,355,452...72,396,146
Ensembl chr  X:72,355,033...72,397,658 		JBrowse link
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,368,900...149,373,486
Ensembl chr  X:149,368,900...149,373,486 		JBrowse link
G Gprasp1 G protein-coupled receptor associated sorting protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:98,764,853...98,772,685
Ensembl chr  X:98,709,841...98,772,851 		JBrowse link
G Gprasp2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:98,817,668...98,823,814
Ensembl chr  X:98,817,593...98,824,402 		JBrowse link
G Gprasp3 G protein-coupled receptor associated sorting protein family member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:98,847,591...98,854,949
Ensembl chr  X:98,817,593...98,854,545 		JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:120,238,515...120,504,106
Ensembl chr  X:120,238,534...120,504,096 		JBrowse link
G Gucy2f guanylate cyclase 2F ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:105,710,356...105,808,183
Ensembl chr  X:105,710,356...105,808,183 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar 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 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Hdx highly divergent homeobox ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:76,552,539...76,697,177
Ensembl chr  X:76,560,665...76,869,972 		JBrowse link
G Heph hephaestin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:61,151,131...61,402,980
Ensembl chr  X:61,296,345...61,402,980 		JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,296,303...149,301,290
Ensembl chr  X:149,296,375...149,301,292 		JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:74,085,871...74,094,488
Ensembl chr  X:74,085,875...74,094,441 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:130,966,547...131,261,629
Ensembl chr  X:130,968,385...131,261,492 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,025,976...149,046,641
Ensembl chr  X:149,025,976...149,046,663 		JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,582,832...65,605,078
Ensembl chr  X:65,582,821...65,606,049 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il10 interleukin 10 treatment ISO DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) RGD PMID:20082647 RGD:11049183 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 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 		JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381 		JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein-like 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,961,509...102,271,753
Ensembl chr  X:100,961,812...102,271,753 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823 		JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,258,117...134,325,706
Ensembl chr  X:134,258,125...134,309,617 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:105,344,020...105,360,004 JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,572,537...66,577,174
Ensembl chr  X:66,572,537...66,577,174 		JBrowse link
G Itih6 inter-alpha-trypsin inhibitor heavy chain family member 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,753,322...19,790,381
Ensembl chr  X:19,753,625...19,789,500 		JBrowse link
G Itm2a integral membrane protein 2A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,486,383...72,492,344
Ensembl chr  X:72,486,381...72,492,363 		JBrowse link
G Jpx JPX transcript, XIST activator ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,511,491...68,665,132 JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:105,930,398...105,931,013
Ensembl chr  X:105,930,398...105,931,013 		JBrowse link
G Kiaa1210 KIAA1210 homolog ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,675,412...115,725,950
Ensembl chr  X:115,675,427...115,725,925 		JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,721,746...65,824,277
Ensembl chr  X:65,721,779...65,824,139 		JBrowse link
G Klf8 KLF transcription factor 8 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:17,950,045...18,132,980
Ensembl chr  X:17,958,843...18,133,182 		JBrowse link
G Klhl13 kelch-like family member 13 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:113,942,309...114,107,299
Ensembl chr  X:113,942,309...114,107,321 		JBrowse link
G Klhl4 kelch-like family member 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:79,429,193...79,719,482
Ensembl chr  X:79,622,113...79,719,480 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687 		JBrowse link
G Ldoc1 LDOC1, regulator of NFKB signaling ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:139,965,509...140,074,355
Ensembl chr  X:139,965,509...140,074,355 		JBrowse link
G Lhfpl1 LHFPL tetraspan subfamily member 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:108,815,596...108,873,460
Ensembl chr  X:108,815,596...108,873,460 		JBrowse link
G LOC100912195 protein BEX1-like ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr 1:110,047,861...110,051,812 JBrowse link
G LOC120099525 small nucleolar RNA SNORA11 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,735,030...19,735,144
Ensembl chr  X:19,735,030...19,735,144 		JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,565,214...115,603,886
Ensembl chr  X:115,565,267...115,598,809 		JBrowse link
G Lpar4 lysophosphatidic acid receptor 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,033,486...72,046,978
Ensembl chr  X:72,033,486...72,046,977 		JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:111,091,728...111,174,225
Ensembl chr  X:111,092,814...111,174,210 		JBrowse link
G Luzp4 leucine zipper protein 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:111,280,490...111,321,363
Ensembl chr  X:111,280,549...111,321,359 		JBrowse link
G Magea10 MAGE family member A10 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,212,708...150,217,954
Ensembl chr  X:150,213,245...150,214,213 		JBrowse link
G Magea9 MAGE family member A9 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:142,619,282...142,624,654
Ensembl chr  X:142,619,395...142,624,653 		JBrowse link
G Magec2 MAGE family member C2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:140,610,610...140,615,484
Ensembl chr  X:140,606,825...140,615,471 		JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,733,593...19,741,769
Ensembl chr  X:19,733,597...19,740,477 		JBrowse link
G Magee1 MAGE family member E1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,189,242...70,192,789
Ensembl chr  X:70,189,187...70,192,810 		JBrowse link
G Magee2 MAGE family member E2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,885,751...69,944,824
Ensembl chr  X:69,942,533...69,944,657 		JBrowse link
G Mageh1 MAGE family member H1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:18,350,015...18,351,271
Ensembl chr  X:18,349,774...18,351,516 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Mbnl3 muscleblind-like splicing regulator 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:130,641,942...130,737,179
Ensembl chr  X:130,648,538...130,737,056 		JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446 		JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:117,350,723...117,362,504
Ensembl chr  X:117,350,889...117,362,504 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,354,692...104,456,757
Ensembl chr  X:104,355,316...104,453,473 		JBrowse link
G Mir105 microRNA 105 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,438,529...150,438,601
Ensembl chr  X:150,438,529...150,438,601 		JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,422,584...132,422,661
Ensembl chr  X:132,422,584...132,422,661 		JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,422,072...132,422,167
Ensembl chr  X:132,422,072...132,422,167 		JBrowse link
G Mir223 microRNA 223 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mir224 microRNA 224 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,065,088...150,065,169
Ensembl chr  X:150,065,088...150,065,169 		JBrowse link
G Mir322 microRNA 322 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,806,594...132,806,688
Ensembl chr  X:132,806,594...132,806,688 		JBrowse link
G Mir448 microRNA 448 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:110,829,918...110,830,029
Ensembl chr  X:110,829,918...110,830,029 		JBrowse link
G Mir503 microRNA 503 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,806,303...132,806,373
Ensembl chr  X:132,806,303...132,806,373 		JBrowse link
G Mmgt1 membrane magnesium transporter 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,408,463...134,420,798
Ensembl chr  X:134,408,466...134,420,729 		JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,477,366...103,529,026
Ensembl chr  X:103,480,603...103,528,956 		JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728 		JBrowse link
G Mospd1 motile sperm domain containing 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 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 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:2105106 PMID:31690835
G Msn moesin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:60,996,043...61,064,011
Ensembl chr  X:60,995,951...61,065,628 		JBrowse link
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr18:126,189...130,123 JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association		 ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:22411997 PMID:22411997 RGD:10449409, RGD:10449409 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860 		JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Nalf2 NALCN channel auxiliary factor 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:64,925,100...64,951,074
Ensembl chr  X:64,925,051...64,951,077 		JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,174,051...68,176,449
Ensembl chr  X:68,173,987...68,176,666 		JBrowse link
G Nap1l3 nucleosome assembly protein 1-like 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:88,347,595...88,350,393
Ensembl chr  X:88,347,598...88,350,393 		JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,088,076...69,219,253
Ensembl chr  X:69,088,076...69,112,930 		JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,969,953...67,209,464
Ensembl chr  X:66,970,151...67,200,911 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945 		JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,126,341...116,144,554
Ensembl chr  X:116,128,798...116,144,628 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nrk Nik related kinase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:102,365,765...102,462,957
Ensembl chr  X:102,365,765...102,459,657 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Nup62cl nucleoporin 62 C-terminal like ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,668,458...103,724,957
Ensembl chr  X:103,668,455...103,724,081 		JBrowse link
G Nxf2 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:98,135,953...98,157,117
Ensembl chr  X:98,135,950...98,157,089 		JBrowse link
G Nxf3 nuclear RNA export factor 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,025,901...99,050,409
Ensembl chr  X:99,025,901...99,039,261 		JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526 		JBrowse link
G Nxt2 nuclear transport factor 2-like export factor 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:105,855,616...105,862,902
Ensembl chr  X:105,855,608...105,862,899 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,771,278...66,816,148
Ensembl chr  X:66,771,349...66,816,146 		JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:63,599,746...63,976,678
Ensembl chr  X:63,603,042...63,976,633 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Otud6a OTU deubiquitinase 6A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,514,113...65,516,287
Ensembl chr  X:65,514,191...65,515,063 		JBrowse link
G P2ry10 P2Y receptor family member 10 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,121,558...72,207,174
Ensembl chr  X:72,111,264...72,212,265 		JBrowse link
G P2ry4 pyrimidinergic receptor P2Y4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,681,680...65,717,404
Ensembl chr  X:65,683,232...65,721,748 		JBrowse link
G Pabir2 PABIR family member 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,989,124...133,015,625
Ensembl chr  X:132,989,124...133,015,580 		JBrowse link
G Pabir3 PABIR family member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:133,020,162...133,083,801
Ensembl chr  X:133,020,190...133,083,805 		JBrowse link
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,023,845...68,026,508 JBrowse link
G Pabpc1l2b poly(A) binding protein cytoplasmic 1 like 2B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835
G Pabpc5 poly A binding protein, cytoplasmic 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:85,637,763...85,641,235
Ensembl chr  X:85,638,574...85,639,722 		JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:107,116,308...107,374,342
Ensembl chr  X:107,260,898...107,368,314 		JBrowse link
G Pasd1 PAS domain containing repressor 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,617,933...149,639,214
Ensembl chr  X:149,620,972...149,638,675 		JBrowse link
G Pbdc1 polysaccharide biosynthesis domain containing 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,154,106...70,197,827
Ensembl chr  X:70,154,106...70,184,552 		JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:86,058,348...86,751,078
Ensembl chr  X:86,058,394...86,747,036 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Pdzd11 PDZ domain containing 11 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,718,689...65,721,742
Ensembl chr  X:65,704,067...65,721,642 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,508,522...19,562,165
Ensembl chr  X:19,508,546...19,562,182 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,232,066...67,238,709
Ensembl chr  X:67,232,081...67,238,702 		JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:64,580,938...64,585,846
Ensembl chr  X:64,580,849...64,585,833 		JBrowse link
G Plac1 placenta enriched 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,821,347...132,955,143
Ensembl chr  X:132,821,347...132,985,668 		JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839 		JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,880,865...150,882,789
Ensembl chr  X:150,880,865...150,882,789 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037 		JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:77,683,128...77,749,827
Ensembl chr  X:77,683,128...77,749,688 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:75,858,646...75,859,923
Ensembl chr  X:75,858,646...75,859,923 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:123,978,010...123,979,928
Ensembl chr  X:123,977,985...123,979,942 		JBrowse link
G Prrg3 proline rich and Gla domain 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,666,498...149,689,353
Ensembl chr  X:149,670,257...149,677,373 		JBrowse link
G Psmd10 proteasome 26S subunit, non-ATPase 10 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,656,809...104,665,122
Ensembl chr  X:104,656,812...104,665,097 		JBrowse link
G Pwwp3b PWWP domain containing 3B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:102,804,416...102,838,580
Ensembl chr  X:102,804,520...102,838,574 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Radx RPA1 related single stranded DNA binding protein, X-linked ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,089,284...103,176,840
Ensembl chr  X:103,089,284...103,176,838 		JBrowse link
G Rap2c RAP2C, member of RAS oncogene family ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:130,504,554...130,517,671
Ensembl chr  X:130,504,698...130,518,328 		JBrowse link
G Rbm41 RNA binding motif protein 41 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,605,732...103,660,381
Ensembl chr  X:103,608,585...103,660,381 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Rbmx2 RNA binding motif protein, X-linked 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,888,514...127,896,239
Ensembl chr  X:127,888,438...127,896,869 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644 		JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870 		JBrowse link
G Ripply1 ripply transcriptional repressor 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,436,731...103,440,904
Ensembl chr  X:103,436,729...103,443,349 		JBrowse link
G Rlim ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,983,259...69,004,368
Ensembl chr  X:68,988,375...69,004,271 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762 		JBrowse link
G Rnf128 ring finger protein 128 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,183,643...103,298,431
Ensembl chr  X:103,183,831...103,298,423 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892 		JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 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 		JBrowse link
G Rps4x ribosomal protein S4, X-linked ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 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 		JBrowse link
G Rps6ka6 ribosomal protein S6 kinase A6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:76,353,316...76,454,502
Ensembl chr  X:76,353,760...76,454,484 		JBrowse link
G RragB Ras-related GTP binding B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:18,184,619...18,234,639
Ensembl chr  X:18,184,992...18,234,639 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO RGD PMID:9157572 RGD:11041784 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G Rtl3 retrotransposon Gag like 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,947,343...71,951,008
Ensembl chr  X:71,948,253...71,950,121 		JBrowse link
G Rtl4 retrotransposon Gag like 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:108,231,052...108,641,768
Ensembl chr  X:108,633,651...108,640,050 		JBrowse link
G Rtl5 retrotransposon Gag like 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,183,948...67,188,747
Ensembl chr  X:67,184,154...67,188,809 		JBrowse link
G Rtl8a retrotransposon Gag like 8A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:133,414,027...133,415,240
Ensembl chr  X:133,414,030...133,415,240 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:106,708,454...106,720,607
Ensembl chr  X:106,714,868...106,719,794 		JBrowse link
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,326,815...127,341,521
Ensembl chr  X:127,326,859...127,341,519 		JBrowse link
G Satl1 spermidine/spermine N1-acetyl transferase-like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:77,453,357...77,469,100
Ensembl chr  X:77,453,357...77,469,158 		JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,153,255...116,230,334
Ensembl chr  X:116,153,255...116,230,115 		JBrowse link
G Serpina7 serpin family A member 7 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:102,663,242...102,722,319
Ensembl chr  X:102,663,405...102,669,040 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Sh3bgrl1 SH3 domain binding glutamate rich protein like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:74,167,029...74,263,783
Ensembl chr  X:74,166,871...74,263,783 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771 		JBrowse link
G Slc25a14 solute carrier family 25 member 14 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,807,630...127,845,823
Ensembl chr  X:127,807,449...127,845,823 		JBrowse link
G Slc25a43 solute carrier family 25, member 43 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,977,437...116,011,789
Ensembl chr  X:115,977,510...116,011,205 		JBrowse link
G Slc25a5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,031,896...116,034,963
Ensembl chr  X:116,031,803...116,034,967 		JBrowse link
G Slc25a53 solute carrier family 25, member 53 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,306,917...100,319,662
Ensembl chr  X:100,306,915...100,319,863 		JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,210,071...66,216,482
Ensembl chr  X:66,210,081...66,215,708 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Slitrk2 SLIT and NTRK-like family, member 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:145,246,448...145,259,983
Ensembl chr  X:145,246,460...145,271,220 		JBrowse link
G Slitrk4 SLIT and NTRK-like family, member 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:142,706,495...142,718,968
Ensembl chr  X:142,706,338...142,718,575 		JBrowse link
G Smarca1 SNF2 related chromatin remodeling ATPase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:126,980,201...127,066,385
Ensembl chr  X:126,994,947...127,066,347 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,226,995...66,356,945
Ensembl chr  X:66,227,053...66,356,950 		JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,292,030...116,293,660
Ensembl chr  X:116,292,030...116,293,660 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Spin2a spindlin family member 2A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:17,511,018...17,513,001
Ensembl chr  X:17,511,022...17,513,001 		JBrowse link
G Spin2b spindlin family member 2B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:17,190,573...17,192,351
Ensembl chr  X:17,180,474...17,192,351 		JBrowse link
G Spin4 spindlin family, member 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:59,888,728...59,892,817
Ensembl chr  X:59,891,581...59,892,330 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:120,974,687...121,105,677
Ensembl chr  X:120,974,857...121,105,677 		JBrowse link
G Stard8 StAR-related lipid transfer domain containing 8 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:64,079,079...64,196,052
Ensembl chr  X:64,124,574...64,196,052 		JBrowse link
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,087,626...116,114,159
Ensembl chr  X:116,060,929...116,114,159 		JBrowse link
G Stk26 serine/threonine kinase 26 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:130,325,064...130,375,674
Ensembl chr  X:130,310,885...130,374,291 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,135,496...97,185,867
Ensembl chr  X:97,135,500...97,185,854 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,640,915...66,716,543
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,660,222...97,675,241
Ensembl chr  X:97,660,222...97,675,023 		JBrowse link
G Taf9b TATA-box binding protein associated factor 9b ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,289,290...71,300,142
Ensembl chr  X:71,289,290...71,300,604 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133 		JBrowse link
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,010,677...100,012,637
Ensembl chr  X:100,010,690...100,012,654 		JBrowse link
G Tceal5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,204,422...99,207,373
Ensembl chr  X:99,204,429...99,207,353 		JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,228,405...99,230,551
Ensembl chr  X:99,228,458...99,230,543 		JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,171,307...99,173,377
Ensembl chr  X:99,171,177...99,173,710 		JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,245,645...99,247,720
Ensembl chr  X:99,228,458...99,247,763 		JBrowse link
G Tcp11x2 t-complex 11 family, X-linked 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:98,591,191...98,640,800
Ensembl chr  X:98,591,189...98,640,763 		JBrowse link
G Tenm1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:121,400,466...122,289,877
Ensembl chr  X:121,403,649...122,290,207 		JBrowse link
G Tent5d terminal nucleotidyltransferase 5D ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,901,287...72,974,562
Ensembl chr  X:72,901,241...72,970,573 		JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187 		JBrowse link
G Tex13a testis expressed 13A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:101,598,992...101,601,951
Ensembl chr  X:101,600,495...101,601,933 		JBrowse link
G Tex13b testis expressed 13B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,490,937...104,511,224
Ensembl chr  X:104,490,091...104,494,201 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:24263002 PMID:24687919 PMID:22355108 RGD:11060141, RGD:11060256, RGD:11060147 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tgif2lx2 TGFB-induced factor homeobox 2-like, X-linked 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:84,109,203...84,110,264
Ensembl chr  X:84,109,220...84,110,274 		JBrowse link
G Thoc2 THO complex subunit 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:120,634,966...120,749,569
Ensembl chr  X:120,634,968...120,749,513 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:106,288,019...106,448,642
Ensembl chr  X:106,289,371...106,448,640 		JBrowse link
G Tmem185a transmembrane protein 185A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,143,026...149,167,757
Ensembl chr  X:149,143,031...149,167,757 		JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386 		JBrowse link
G Tmsb15b2 thymosin beta 15B2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,298,705...100,300,820
Ensembl chr  X:100,298,514...100,300,886 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,057,137...97,072,634
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tro trophinin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,563,395...19,574,507
Ensembl chr  X:19,563,517...19,572,953 		JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:107,946,163...108,230,991
Ensembl chr  X:107,939,131...108,230,991 		JBrowse link
G Trpc5os TRPC5 opposite strand ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:108,025,172...108,044,201
Ensembl chr  X:108,024,924...108,046,581 		JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,217,898...104,277,886
Ensembl chr  X:104,217,925...104,276,861 		JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,092,394...97,099,659
Ensembl chr  X:97,092,388...97,099,309 		JBrowse link
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,114,339...116,125,076
Ensembl chr  X:116,113,875...116,125,070 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:17,853,086...17,856,505
Ensembl chr  X:17,853,114...17,856,505 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236 		JBrowse link
G Uprt uracil phosphoribosyltransferase homolog ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,516,573...69,546,811
Ensembl chr  X:69,516,738...69,546,797 		JBrowse link
G Usp26 ubiquitin specific peptidase 26 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:131,317,200...131,363,964
Ensembl chr  X:131,319,194...131,363,970 		JBrowse link
G Usp51 ubiquitin specific peptidase 51 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:18,374,940...18,381,472
Ensembl chr  X:18,376,930...18,379,888 		JBrowse link
G Utp14a UTP14A small subunit processome component ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,439,282...127,464,634
Ensembl chr  X:127,439,268...127,464,633 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835
G Vcf2 VCP nuclear cofactor family member 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,310,182...19,393,156
Ensembl chr  X:19,349,560...19,378,486 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Vma21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,491,709...149,501,010
Ensembl chr  X:149,491,738...149,499,272 		JBrowse link
G Vsig1 V-set and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,607,031...104,640,128
Ensembl chr  X:104,607,031...104,639,249 		JBrowse link
G Vsig4 V-set and immunoglobulin domain containing 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:61,144,926...61,170,212
Ensembl chr  X:61,144,928...61,170,212 		JBrowse link
G Vwf von Willebrand factor treatment ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar
RGD		 PMID:25741868 PMID:25955153 RGD:11073776 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Wdr44 WD repeat domain 44 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:114,481,890...114,587,307
Ensembl chr  X:114,482,006...114,587,224 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
G Xist X inactive specific transcript ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,474,987...68,492,500 JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,287,765...127,317,036
Ensembl chr  X:127,287,979...127,317,223 		JBrowse link
G Yipf6 Yip1 domain family, member 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:64,039,602...64,051,715
Ensembl chr  X:64,040,952...64,054,702 		JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023 		JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,433,444...115,436,691
Ensembl chr  X:115,433,259...115,436,692 		JBrowse link
G Zcchc13 zinc finger CCHC-type containing 13 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,643,568...68,644,671
Ensembl chr  X:68,643,549...68,665,131 		JBrowse link
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,568,086...69,701,756
Ensembl chr  X:69,574,124...69,701,756 		JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,352,340...127,388,245
Ensembl chr  X:127,352,345...127,388,245 		JBrowse link
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810 		JBrowse link
G Zfp280c zinc finger protein 280C ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,716,403...127,807,600
Ensembl chr  X:127,717,983...127,779,825 		JBrowse link
G Zfp449 zinc finger protein 449 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,120,820...134,140,921
Ensembl chr  X:134,122,636...134,140,924 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:77,646,300...77,679,398
Ensembl chr  X:77,646,558...77,678,045 		JBrowse link
G Zfp75d zinc finger protein 75D ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,035,116...134,053,765
Ensembl chr  X:134,036,143...134,051,519 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177 		JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
G Zmat1 zinc finger, matrin-type 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:98,168,388...98,199,415
Ensembl chr  X:98,168,456...98,199,733 		JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,528,585...66,544,234
Ensembl chr  X:66,528,585...66,544,782 		JBrowse link
G Zxda zinc finger, X-linked, duplicated A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:59,760,871...59,766,010
Ensembl chr  X:59,763,210...59,765,903 		JBrowse link
G Zxdb zinc finger, X-linked, duplicated B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 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 		JBrowse link
Factor VIII Deficiency, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO CTD Direct Evidence: therapeutic CTD PMID:11886462 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
factor X deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adprhl1 ADP-ribosylhydrolase like 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,283,186...76,315,075
Ensembl chr16:76,283,103...76,354,440 		JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,866,489...77,889,745
Ensembl chr16:77,864,261...77,889,745 		JBrowse link
G Arhgef7 Rho guanine nucleotide exchange factor 7 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,671,021...77,782,593
Ensembl chr16:77,671,023...77,782,697 		JBrowse link
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640 		JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,144,150...76,153,063
Ensembl chr16:76,144,150...76,153,063 		JBrowse link
G C16h13orf46 similar to human chromosome 13 open reading frame 46 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:75,974,501...75,987,629
Ensembl chr16:75,975,463...75,987,628 		JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772 		JBrowse link
G Cdc16 cell division cycle 16 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:75,773,026...75,796,586
Ensembl chr16:75,773,028...75,796,550 		JBrowse link
G Cfap97d2 CFAP97 domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:75,802,434...75,827,040
Ensembl chr16:75,802,434...75,826,853 		JBrowse link
G Champ1 chromosome alignment maintaining phosphoprotein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:75,733,958...75,744,931
Ensembl chr16:75,733,805...75,744,984 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Cul4a cullin 4A ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,385,298...76,422,316
Ensembl chr16:76,384,546...76,422,330 		JBrowse link
G Dcun1d2 defective in cullin neddylation 1 domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,254,433...76,281,139
Ensembl chr16:76,254,413...76,281,146 		JBrowse link
G F10 coagulation factor X ISO DNA:point mutations:R366C;DNA:frameshift
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: F10 DEFICIENCY | ClinVar Annotator: match by term: Factor X deficiency | ClinVar Annotator: match by term: STUART-PROWER FACTOR DEFICIENCY
DNA:deletion:cds:c.302delG(human)		 CTD
ClinVar
OMIM
RGD		 PMID:1939653 PMID:1973167 PMID:1985698 PMID:2790181 PMID:3408671 More... RGD:1601104, RGD:11041731 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141 		JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Congenital factor X deficiency ClinVar PMID:25741868 PMID:31064749 NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437 		JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:10984565 PMID:12181036 PMID:25741868 PMID:34355501 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Gas6 growth arrest specific 6 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904 		JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,122,501...76,135,792
Ensembl chr16:76,123,842...76,135,792 		JBrowse link
G Grtp1 growth hormone regulated TBC protein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,332,777...76,356,414
Ensembl chr16:76,283,103...76,354,440 		JBrowse link
G Ing1 inhibitor of growth family, member 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482 		JBrowse link
G Lamp1 lysosomal-associated membrane protein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,355,982...76,380,700
Ensembl chr16:76,355,984...76,381,883 		JBrowse link
G Mcf2l MCF.2 cell line derived transforming sequence-like ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,507,133...76,652,893
Ensembl chr16:76,507,133...76,652,733 		JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:78,884,405...79,364,445
Ensembl chr16:78,884,406...79,248,388 		JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192 		JBrowse link
G Pcid2 PCI domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,423,245...76,448,712
Ensembl chr16:76,423,245...76,448,712 		JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480 		JBrowse link
G Rab20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:78,019,337...78,043,529
Ensembl chr16:78,019,337...78,043,529 		JBrowse link
G Rasa3 RAS p21 protein activator 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:75,855,360...75,969,349
Ensembl chr16:75,855,265...75,970,804 		JBrowse link
G Sox1 SRY-box transcription factor 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,135,577...77,139,592
Ensembl chr16:77,137,584...77,138,762 		JBrowse link
G Spaca7 sperm acrosome associated 7 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,928,611...76,955,547
Ensembl chr16:76,928,581...76,955,543 		JBrowse link
G Tex29 testis expressed 29 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,650,471...77,664,171
Ensembl chr16:77,650,473...77,664,116 		JBrowse link
G Tfdp1 transcription factor Dp-1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,162,040...76,200,871
Ensembl chr16:76,162,043...76,200,817 		JBrowse link
G Tmco3 transmembrane and coiled-coil domains 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,217,146...76,254,309
Ensembl chr16:76,217,201...76,254,107 		JBrowse link
G Tmem255b transmembrane protein 255B ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,079,840...76,108,179
Ensembl chr16:76,079,845...76,106,795 		JBrowse link
G Tubgcp3 tubulin gamma complex component 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,851,859...76,912,499
Ensembl chr16:76,851,810...76,912,499 		JBrowse link
G Upf3a UPF3A, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:75,757,442...75,768,478
Ensembl chr16:75,757,441...75,769,345 		JBrowse link
factor XI deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:32581362 PMID:34355501 NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395 		JBrowse link
G Dux4 double homeobox 4 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565 		JBrowse link
G F11 coagulation factor XI ISO
ISS		 ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency
OMIM:612416
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:exon:G263X(human)
DNA:missense, nonsense, duplication, deletion:cds:		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1547342 PMID:2052060 PMID:2813350 PMID:7669672 PMID:7888672 More... RGD:1598923, RGD:11041742, RGD:11041741 NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Frg1 FSHD region gene 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:50,925,783...50,946,661
Ensembl chr16:50,925,803...50,946,661 		JBrowse link
G Frg2 FSHD region gene 2 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr14:80,427,260...80,429,560
Ensembl chr14:80,427,673...80,429,181 		JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:32581362 PMID:34355501 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053 		JBrowse link
G Mtnr1a melatonin receptor 1A ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919 		JBrowse link
G Triml1 tripartite motif family-like 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:48,994,968...49,005,343
Ensembl chr16:48,997,252...49,005,417 		JBrowse link
G Triml2 tripartite motif family-like 2 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:48,944,712...48,960,949
Ensembl chr16:48,944,838...48,955,453 		JBrowse link
G Zfp42 zinc finger protein 42 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:48,836,463...48,845,443
Ensembl chr16:48,836,648...48,845,401 		JBrowse link
factor XII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO
ISS		 DNA:missense:exon:C571S
ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease
OMIM:234000
CTD Direct Evidence: marker/mechanism
DNA:deletion mutations, transversion mutation:introns, exon:
DNA:missense, nonsense, deletion mutations:cds:
DNA:polymorphism:promoter:-46C>T(human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8528215 PMID:9354665 PMID:9490684 PMID:9536098 PMID:10361128 More... RGD:1601107, RGD:11041805, RGD:11041772, RGD:11041769 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
factor XIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO
ISS		 DNA:nonsense mutation:intron:
OMIM:613225 | OMIM:613235
ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:IVS1+12C>A(human)
DNA:insertion, missense mutation:cds:
DNA:nonsense mutations, missense mutations:cds:
DNA:mutation:cds:p.R703W(human)		 MouseDO
ClinVar
CTD
RGD		 PMID:1644910 PMID:31136071 PMID:21512576 PMID:23508224 PMID:19937244 More... RGD:10450726, RGD:11041869, RGD:10450730, RGD:10450729, RGD:10450727 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700 		JBrowse link
G F13b coagulation factor XIII B chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease		 CTD
ClinVar		 PMID:2334637 PMID:22353194 PMID:25044882 PMID:25741868 PMID:28399723 More... NCBI chr13:51,130,908...51,156,383
Ensembl chr13:51,130,920...51,156,381 		JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300 RGD PMID:9546392 RGD:1600100 NCBI chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851 		JBrowse link
Factor XIII, A Subunit, Deficiency Of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO ClinVar Annotator: match by term: Factor XIII subunit A deficiency | ClinVar Annotator: match by term: Factor XIII, A subunit, deficiency of
CTD Direct Evidence: marker/mechanism
DNA:deletions, mutation: exons, splice site:c.980G>A (R326Q),c.1112+2T>C,c.215 delA)
DNA:nonsense, missense mutations:exons:p.R661X,p.T242M(human)		 OMIM
ClinVar
CTD
RGD		 PMID:1353995 PMID:7236530 PMID:7727776 PMID:7918041 PMID:8025280 More... RGD:11041856, RGD:11041811 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700 		JBrowse link
Factor XIII, B Subunit, Deficiency Of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13b coagulation factor XIII B chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of
DNA:mutations:multiple:		 OMIM
CTD
ClinVar
RGD		 PMID:2334637 PMID:8324218 PMID:8639893 PMID:11313256 PMID:12456499 More... RGD:10450738 NCBI chr13:51,130,908...51,156,383
Ensembl chr13:51,130,920...51,156,381 		JBrowse link
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman1 lectin, mannose-binding, 1 ISO ClinVar Annotator: match by term: FMFD I OMIM
ClinVar		 PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 NCBI chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: FMFD I ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841 		JBrowse link
Familial Platelet Disorder with Associated Myeloid Malignancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592 		JBrowse link
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:25741868 More... NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393 		JBrowse link
G Cbr3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532 NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875 		JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346 		JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070 		JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532 More... NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061 		JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867 		JBrowse link
G Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889 		JBrowse link
G Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532 NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Epcip exosomal polycystin 1 interacting protein ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439 		JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Hlcs holocarboxylase synthetase ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222 		JBrowse link
G Hunk hormonally upregulated Neu-associated kinase ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,641,122...29,758,392
Ensembl chr11:29,640,775...29,757,526 		JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979 		JBrowse link
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005 		JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 PMID:32581362 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:18478040 PMID:18487507 PMID:19357396 PMID:19679353 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758 		JBrowse link
G Mir802 microRNA 802 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:25741868 PMID:34355501 NCBI chr11:32,626,525...32,626,620
Ensembl chr11:32,626,525...32,626,620 		JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062 		JBrowse link
G Morc3 MORC family CW-type zinc finger 3 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:28492532 NCBI chr11:33,151,906...33,194,650
Ensembl chr11:33,152,025...33,194,646 		JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024 		JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 PMID:32581362 NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484 		JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152 		JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648 		JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 PMID:32581362 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045 		JBrowse link
G Ripply3 ripply transcriptional repressor 3 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,648,471...33,656,587
Ensembl chr11:33,648,486...33,656,584 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | ClinVar Annotator: match by term: Platelet disorder, Aspirin-like		 OMIM
CTD
ClinVar		 PMID:1958483 PMID:9536098 PMID:9606182 PMID:9837750 PMID:10068652 More... NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153 		JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:18723428 PMID:23512985 PMID:24100448 PMID:25741868 More... NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243 		JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663 		JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 PMID:32581362 NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 PMID:32581362 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002 		JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167 		JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220 		JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901 		JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661 		JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975 		JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363 		JBrowse link
G Vps26c VPS26 endosomal protein sorting factor C ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,813,467...33,841,883
Ensembl chr11:33,792,389...33,841,447 		JBrowse link
Glanzmann Thrombasthenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 OMIM
ClinVar		 PMID:1317725 PMID:1926040 PMID:2014236 PMID:7508443 PMID:7620188 More... NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 ClinVar PMID:1371279 PMID:1602006 PMID:9050889 PMID:9215749 PMID:9351872 More... NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
Glanzmann Thrombasthenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 2 ClinVar
OMIM		 PMID:1371279 PMID:1438206 PMID:1602006 PMID:2014236 PMID:2392682 More... NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
Glanzmann's thrombasthenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 severity ISO RGD PMID:14687991 RGD:1582297 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Itga2b integrin subunit alpha 2b ISO DNA:insertion/deletion:exon
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A | ClinVar Annotator: match by term: Thrombasthenia
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon		 ClinVar
CTD
RGD		 PMID:1317725 PMID:1638023 PMID:1926040 PMID:2014236 PMID:7508443 More... RGD:10755476, RGD:10755480 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO
ISS		 ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A | ClinVar Annotator: match by term: Thrombasthenia
OMIM:273800
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1371279 PMID:1430225 PMID:1438206 PMID:1602006 PMID:2014236 More... RGD:10755474 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 ClinVar PMID:11015453 PMID:11809724 PMID:15248095 PMID:15326248 PMID:16832076 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
gray platelet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Gray platelet syndrome ClinVar NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO DNA:nonsense mutation:c.859C>T, p.Gln287X(human) RGD PMID:24325358 RGD:11040508 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
G Nbeal2 neurobeachin-like 2 ISO
ISS		 ClinVar Annotator: match by term: Gray platelet syndrome | ClinVar Annotator: match by term: NBEAL2-related condition
OMIM:139090
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:21765411 PMID:21765412 PMID:21765413 PMID:25741868 PMID:28492532 More... NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707 		JBrowse link
hemophilia B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,564,459...138,752,116
Ensembl chr  X:138,565,836...138,751,204 		JBrowse link
G Cxhxorf66 similar to human chromosome X open reading frame 66 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,779,374...138,819,595
Ensembl chr  X:138,779,382...138,785,707 		JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1671991 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F9 coagulation factor IX treatment ISO
ISS		 ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hemophilia B Brandenburg | ClinVar Annotator: match by term: Hemophilia B leyden | ClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency | ClinVar Annotator: match by term: Hemophilia b(m) | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease
OMIM:306900
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:P.G396R,K411X,I397T(human)
DNA:nonsense mutation:cds:p.R338X (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:734633 PMID:884315 PMID:1346077 PMID:1346975 PMID:1357229 More... RGD:9685705, RGD:10450764, RGD:10450762, RGD:10450761, RGD:10450760, RGD:10450759 NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835 		JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
DNA:duplication, deletions:introns, exons: (mouse)		 ClinVar
RGD		 PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1578409, RGD:11087577, RGD:11087576 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome		 CTD
ClinVar		 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643 		JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome		 CTD
ClinVar		 PMID:25741868 PMID:31064749 NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505 		JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 ISS MouseDO NCBI chr14:74,043,025...74,044,325
Ensembl chr14:74,043,015...74,044,531 		JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISS
ISO		 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome MouseDO
ClinVar		 PMID:32565547 NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome		 CTD
ClinVar		 PMID:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 More... NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO DNA:deletion:intron, exon
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:12923531 RGD:11251756 NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO DNA:deletion:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 More... RGD:1599538 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense,frameshift,insertion mutations:cds:
DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022)		 ClinVar
CTD
RGD		 PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 More... RGD:1599546, RGD:11354897, RGD:11353873 NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 More... RGD:11072072 NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019 		JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:		 ClinVar
CTD
RGD		 PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 More... RGD:632833, RGD:11073544 NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883 		JBrowse link
G Kxd1 KxDL motif containing 1 ISS MouseDO NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807 		JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:19897744 RGD:2324690 NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924 		JBrowse link
G Rab38ru Rab38, member of RAS oncogene family, ruby allele IAGP RGD PMID:19897744 RGD:2324690
G Rabggta Rab geranylgeranyltransferase subunit alpha ISS MouseDO NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348 		JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISS MouseDO NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536 		JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISS MouseDO NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393 		JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:203300 MouseDO NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 PMID:33543539 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:28492532 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO
ISS		 DNA:duplication:exon
ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | ClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
OMIM:203300
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... RGD:1625056 NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:11590544 PMID:24033266 PMID:25525159 PMID:25741868 PMID:28492532 More... NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:28492532 NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:12548288 PMID:15296495 PMID:21833017 PMID:26785811 PMID:28492532 NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS OMIM:203300 MouseDO NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829 		JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 More... NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643 		JBrowse link
Hermansky-Pudlak Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:32565547 NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251 		JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aggf1 angiogenic factor with G patch and FHA domains 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,619,336...26,646,050
Ensembl chr 2:26,619,339...26,645,952 		JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO
ISS		 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
OMIM:608233
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 More... NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS
ISO		 OMIM:608233
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2		 MouseDO
ClinVar		 PMID:28492532 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643 		JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671 		JBrowse link
G Crhbp corticotropin releasing hormone binding protein ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,692,403...26,704,710
Ensembl chr 2:26,692,403...26,704,710 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 PMID:32581362 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047 		JBrowse link
G Lhfpl2 LHFPL tetraspan subfamily member 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:25,281,771...25,428,128
Ensembl chr 2:25,281,901...25,427,950 		JBrowse link
G Otp orthopedia homeobox ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,108,158...26,116,359
Ensembl chr 2:26,108,163...26,116,359 		JBrowse link
G Pde8b phosphodiesterase 8B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209 		JBrowse link
G S100z S100 calcium binding protein Z ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,737,796...26,753,611
Ensembl chr 2:26,738,776...26,752,390 		JBrowse link
G Scamp1 secretory carrier membrane protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:25,433,958...25,516,734
Ensembl chr 2:25,433,959...25,516,673 		JBrowse link
G Tbca tubulin folding cofactor A ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,011,714...26,065,909
Ensembl chr 2:26,011,795...26,065,907 		JBrowse link
G Wdr41 WD repeat domain 41 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,222,797...26,273,849
Ensembl chr 2:26,224,495...26,273,836 		JBrowse link
G Zbed3 zinc finger, BED-type containing 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,587,620...26,600,177
Ensembl chr 2:26,587,572...26,600,386 		JBrowse link
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 ClinVar PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO
ISS		 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
OMIM:614072
DNA:splice-site mutation:intron:1303+1G>A (human)		 OMIM
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 More... RGD:11041885 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047 		JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis ClinVar PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532 NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO
ISS		 ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4
OMIM:614073		 OMIM
ClinVar
MouseDO		 PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:18463683 More... NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632 		JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO
ISS		 ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5
OMIM:614074		 OMIM
ClinVar
MouseDO		 PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:22995991 More... NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019 		JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO
ISS		 ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6
OMIM:614075		 OMIM
ClinVar
MouseDO		 PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More... NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883 		JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtnbp1 dystrobrevin binding protein 1 ISO
ISS		 ClinVar Annotator: match by term: DTNBP1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7
OMIM:614076		 OMIM
ClinVar
MouseDO		 PMID:12923531 PMID:23364359 PMID:24033266 PMID:25741868 PMID:28259707 More... NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661 		JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO
ISS		 OMIM:614077
ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8		 OMIM
MouseDO
ClinVar		 PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505 		JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO
ISS		 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9
OMIM:614171		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 More... NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
high molecular weight kininogen deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kng1 kininogen 1 ISO ClinVar Annotator: match by term: High molecular weight kininogen deficiency | ClinVar Annotator: match by term: Kininogen deficiency, total
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1202089 PMID:1968772 PMID:7901207 PMID:12576314 PMID:17522339 More... NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555 		JBrowse link
G Kng2 kininogen 2 ISO DNA:misense mutation:cds: RGD PMID:7901207 RGD:1600407 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
platelet-type bleeding disorder 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Platelet-type bleeding disorder 10
OMIM:608404		 CTD
OMIM
ClinVar
MouseDO		 PMID:7533783 PMID:7686693 PMID:8696942 PMID:10890433 PMID:10946357 More... NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:18820218 RGD:13208509 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
platelet-type bleeding disorder 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp6 glycoprotein VI ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 11
DNA:insertion:exon 6:c.711_712insA (human)		 OMIM
ClinVar
RGD		 PMID:19549989 PMID:19552682 PMID:25741868 PMID:28492532 PMID:29232918 More... RGD:401794132 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326 		JBrowse link
platelet-type bleeding disorder 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbxas1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 14 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096 		JBrowse link
platelet-type bleeding disorder 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 More... NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251 		JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia ClinVar PMID:23809206 PMID:26316623 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433 		JBrowse link
platelet-type bleeding disorder 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin subunit alpha 2b ISO
ISS		 ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
OMIM:187800
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G13V(human)
DNA:missense mutation: :p.N2D (97A>G) (human)
DNA:mutations:promoter, exon:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1638023 PMID:9215749 PMID:9834222 PMID:10607701 PMID:14687991 More... RGD:10766467, RGD:10755470, RGD:10755469, RGD:10755462 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO
ISS		 DNA:missense mutations, deletions, insertion:exon:multiple
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
OMIM:187800		 ClinVar
MouseDO
RGD		 PMID:1371279 PMID:9351872 PMID:19570064 PMID:19821948 PMID:20106508 More... RGD:10755462, RGD:10755470, RGD:10755466 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
platelet-type bleeding disorder 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 17
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1065298 PMID:5681484 PMID:20861919 PMID:23927492 PMID:24325358 More... NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
platelet-type bleeding disorder 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasgrp2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 | ClinVar Annotator: match by term: RASGRP2-related condition OMIM
ClinVar		 PMID:24958846 PMID:25741868 PMID:27235135 PMID:27663674 PMID:28492532 More... NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993 		JBrowse link
platelet-type bleeding disorder 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slfn14 schlafen family member 14 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 | ClinVar Annotator: match by term: SLFN14-related condition OMIM
ClinVar		 PMID:25741868 PMID:26280575 PMID:26769223 PMID:28492532 PMID:29678925 More... NCBI chr10:68,076,326...68,087,794 JBrowse link
platelet-type bleeding disorder 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO DNA:deletion
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 3 | ClinVar Annotator: match by term: Platelet-type von Willebrand disease | ClinVar Annotator: match by term: Pseudo von Willebrand disease
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.G233V (human)
DNA:missense mutation: :p.V239M (human)		 OMIM
ClinVar
CTD
RGD		 PMID:2052556 PMID:8384898 PMID:8486780 PMID:12038791 PMID:18492106 More... RGD:10450803, RGD:10450823, RGD:10450814 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
platelet-type bleeding disorder 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 ClinVar PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 More... NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741 		JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO
ISS		 OMIM:609821
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8		 OMIM
MouseDO
ClinVar		 PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 More... NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361 		JBrowse link
platelet-type bleeding disorder 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar PMID:25741868 NCBI chr 2:46,504,588...46,516,327
Ensembl chr 2:46,504,588...46,516,324 		JBrowse link
protein C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO DNA:missense mutations:cds:p.L223F, p.I403M (human)
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutation:exon:p.R87H (3203G>A) (human)
DNA:missense mutation:exon:p.A259T (8490G>A) (human)		 CTD
RGD		 PMID:14707701 PMID:18376272 PMID:21445774 PMID:33761690 PMID:8128429 More... RGD:1578392, RGD:11099985, RGD:11099984 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
prothrombin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II, thrombin ISO DNA:missense mutation: :p.R418W (human)
ClinVar Annotator: match by term: Congenital factor II deficiency | ClinVar Annotator: match by term: Factor II deficiency
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation: :p.R271H, p.R382C, p.Q541X (human)
DNA:missense mutations, deletion, splice-site mutation: :multiple		 ClinVar
CTD
RGD		 PMID:2222810 PMID:2429850 PMID:2825773 PMID:3567158 PMID:6305407 More... RGD:1601108, RGD:10449425, RGD:10449424 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F7 coagulation factor VII IEP protein:decreased expression:plasma (rat) RGD PMID:2810399 RGD:2312318 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
Quebec platelet disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Quebec platelet disorder		 CTD
OMIM
ClinVar		 PMID:12689937 PMID:18988861 PMID:20007542 PMID:22102275 PMID:25741868 More... NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
Scott syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano6 anoctamin 6 ISO ClinVar Annotator: match by term: SCOTT SYNDROME
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7989579 PMID:16199547 PMID:21107324 PMID:21511967 PMID:25741868 More... NCBI chr 7:126,933,919...127,113,588
Ensembl chr 7:126,933,936...127,113,589 		JBrowse link
thrombophilia due to activated protein C resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Activated protein C resistance | ClinVar Annotator: match by term: Hereditary Resistance to Activated Protein C | ClinVar Annotator: match by term: Thrombophilia due to activated protein C resistance		 CTD
OMIM
ClinVar		 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:25196808 RGD:11099994 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
Von Willebrand Factor, Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:32581362 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:3257148 PMID:8456430 PMID:9253800 PMID:10669167 PMID:11756169 More... NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
von Willebrand's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor ISO RGD PMID:4546024 RGD:11341671 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Vwf von Willebrand factor treatment ISO
ISS		 ClinVar Annotator: match by term: Hereditary von Willebrand disease | ClinVar Annotator: match by term: Von Willebrand disease, recessive form | ClinVar Annotator: match by term: von Willebrand disorder ClinVar
MouseDO
RGD		 PMID:1301136 PMID:1302613 PMID:1324533 PMID:1380739 PMID:1415226 More... RGD:1331525, RGD:11079196 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
von Willebrand's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 severity
no_association		 ISO DNA:SNP: :807C>T (human) RGD PMID:15226188 PMID:14652648 RGD:10766468, RGD:11530070 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Itga2b integrin subunit alpha 2b severity ISO DNA:haplotype:cds: RGD PMID:15226188 RGD:10766468 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Silc1 sciatic injury induced lincRNA upregulator of SOX11 ISO ClinVar Annotator: match by term: von Willebrand disease type 1 ClinVar PMID:25741868 PMID:34355501 NCBI chr 6:43,805,709...43,825,284 JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: VWD, TYPE 1 | ClinVar Annotator: match by term: von Willebrand disease type 1 | ClinVar Annotator: match by term: von Willebrand disease, type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
protein:decreased expression:plasma
DNA:mutation:exon:p.C386R(human)		 OMIM
ClinVar
CTD
RGD		 PMID:1301136 PMID:1302613 PMID:1373334 PMID:1415226 PMID:1581215 More... RGD:10766468, RGD:11079205 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
von Willebrand's disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO protein:decreased expression:plasma RGD PMID:16409463 RGD:10766469 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G Itga2 integrin subunit alpha 2 severity ISO DNA:haplotype:promoter: RGD PMID:16409463 RGD:10766469 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Itga2b integrin subunit alpha 2b no_association ISO DNA:haplotype:: RGD PMID:16409463 RGD:10766469 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Vwf von Willebrand factor treatment ISO
ISS		 ClinVar Annotator: match by term: VWD, TYPE 2 | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N
OMIM:613554
CTD Direct Evidence: marker/mechanism
protein:decreased expression:plasma
DNA:deletion:cds:del K 1405-1408(human)
p. R1306Q,V1316M(mouse)
DNA:missense mutation:cds:p.M1304R(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1324533 PMID:1373334 PMID:1380739 PMID:1409710 PMID:1415226 More... RGD:10766469, RGD:11079206, RGD:11079203, RGD:11079202, RGD:11079201, RGD:11079200 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
von Willebrand's disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons:		 OMIM
ClinVar
CTD
RGD		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... RGD:11079204 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
Wiskott-Aldrich syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374 		JBrowse link
G Foxp3 forkhead box P3 ISS
ISO		 OMIM:301000 | OMIM:614493
ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1		 MouseDO
ClinVar		 PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683 		JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:16,326,775...16,333,396
Ensembl chr  X:16,326,598...16,333,145 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:15,869,065...16,076,850
Ensembl chr  X:15,869,065...16,076,869 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,421,028...14,433,993
Ensembl chr  X:14,421,109...14,433,982 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:141,792,589...141,795,257 JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:15,123,620...15,126,855
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
G Was WASP actin nucleation promoting factor ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:301000
ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:2906042 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7735919 More... RGD:1599803 NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
G Washc4 WASH complex subunit 4 ISS OMIM:301000 MouseDO NCBI chr 7:20,187,905...20,240,228
Ensembl chr 7:20,187,922...20,240,226 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,362,484...14,373,727
Ensembl chr  X:14,362,860...14,373,727 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:58,314,521...58,416,668
Ensembl chr 3:58,314,542...58,372,742 		JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome ClinVar PMID:10069711 PMID:10220139 PMID:16786514 PMID:18414213 PMID:19824023 More... NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 ClinVar PMID:28492532 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22231303 PMID:24033266 PMID:25741868 More... NCBI chr 3:58,314,521...58,416,668
Ensembl chr 3:58,314,542...58,372,742 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      hematopoietic system disease 3821
        blood coagulation disease 1442
          Inherited Blood Coagulation Disease 700
            Bernard-Soulier syndrome + 5
            Dysprothrombinemia 0
            Essential Athrombia 0
            Familial Multiple Coagulation Factor Deficiency II 0
            Familial Multiple Coagulation Factor Deficiency IV 0
            Familial Multiple Coagulation Factor Deficiency V 0
            Familial Multiple Coagulation Factor Deficiency VI 0
            Familial Platelet Disorder with Associated Myeloid Malignancy 50
            Glanzmann's thrombasthenia + 5
            Hermansky-Pudlak syndrome + 35
            Passovoy Factor 0
            Pechet Factor Deficiency 0
            Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 0
            Scott syndrome 1
            Wiskott-Aldrich syndrome + 47
            antithrombin III deficiency 22
            congenital afibrinogenemia + 5
            factor V deficiency + 5
            factor VII deficiency 2
            factor VIII deficiency + 441
            factor X deficiency 38
            factor XI deficiency 11
            factor XII deficiency 2
            factor XIII deficiency + 3
            gray platelet syndrome + 3
            hemophilia B 7
            hereditary combined deficiency of vitamin K-dependent clotting factors + 3
            high molecular weight kininogen deficiency 2
            platelet-type bleeding disorder 10 2
            platelet-type bleeding disorder 11 1
            platelet-type bleeding disorder 12 0
            platelet-type bleeding disorder 14 1
            platelet-type bleeding disorder 15 2
            platelet-type bleeding disorder 17 1
            platelet-type bleeding disorder 18 1
            platelet-type bleeding disorder 19 0
            platelet-type bleeding disorder 20 1
            platelet-type bleeding disorder 3 1
            platelet-type bleeding disorder 8 2
            platelet-type bleeding disorder 9 2
            protein C deficiency + 16
            prothrombin deficiency + 3
            thrombophilia due to activated protein C resistance 4
            von Willebrand's disease + 9
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      Hemic and Lymphatic Diseases 4331
        hematopoietic system disease 3821
          blood coagulation disease 1442
            Inherited Blood Coagulation Disease 700
              Bernard-Soulier syndrome + 5
              Dysprothrombinemia 0
              Essential Athrombia 0
              Familial Multiple Coagulation Factor Deficiency II 0
              Familial Multiple Coagulation Factor Deficiency IV 0
              Familial Multiple Coagulation Factor Deficiency V 0
              Familial Multiple Coagulation Factor Deficiency VI 0
              Familial Platelet Disorder with Associated Myeloid Malignancy 50
              Glanzmann's thrombasthenia + 5
              Hermansky-Pudlak syndrome + 35
              Passovoy Factor 0
              Pechet Factor Deficiency 0
              Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 0
              Scott syndrome 1
              Wiskott-Aldrich syndrome + 47
              antithrombin III deficiency 22
              congenital afibrinogenemia + 5
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 441
              factor X deficiency 38
              factor XI deficiency 11
              factor XII deficiency 2
              factor XIII deficiency + 3
              gray platelet syndrome + 3
              hemophilia B 7
              hereditary combined deficiency of vitamin K-dependent clotting factors + 3
              high molecular weight kininogen deficiency 2
              platelet-type bleeding disorder 10 2
              platelet-type bleeding disorder 11 1
              platelet-type bleeding disorder 12 0
              platelet-type bleeding disorder 14 1
              platelet-type bleeding disorder 15 2
              platelet-type bleeding disorder 17 1
              platelet-type bleeding disorder 18 1
              platelet-type bleeding disorder 19 0
              platelet-type bleeding disorder 20 1
              platelet-type bleeding disorder 3 1
              platelet-type bleeding disorder 8 2
              platelet-type bleeding disorder 9 2
              protein C deficiency + 16
              prothrombin deficiency + 3
              thrombophilia due to activated protein C resistance 4
              von Willebrand's disease + 9
paths to the root