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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:vascular hemostatic disease
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Accession:DOID:484 term browser browse the term
Definition:Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS.
Synonyms:exact_synonym: Hemostatic Disorder;   Hemostatic Disorders;   Vascular Hemostatic Disorder;   Vascular Hemostatic Disorders
 primary_id: MESH:D020141;   RDO:0005300
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB
ClinVar PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1
ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar PMID:28492532 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by OMIM:229200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:25741868 PMID:33739556 NCBI chr19:54,843,864...55,083,935 JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2
ClinVar Annotator: match by OMIM:614170
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
cavernous hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:25741868 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10545614 PMID:23595507 PMID:24466005 PMID:25741868 PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
G Ccm2 CCM2 scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar Annotator: match by OMIM:116860
CTD
ClinVar
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:15079030 PMID:17187287 PMID:17211633 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288, PMID:14755725, PMID:15079030 RGD:1358458, RGD:1598379 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:28492532 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 1 ClinVar
OMIM
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11222804 PMID:11310633 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:17562932 PMID:19088123 PMID:19454328 PMID:24401931 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 OMIM
ClinVar
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:17160895 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:20419355 PMID:23595507 PMID:24466005 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:32860008 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar
PMID:15543491 PMID:18035376 PMID:18060436 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25354366 PMID:25741868 PMID:26896283 PMID:28492532 PMID:30161288 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 OMIM
ClinVar
PMID:15728585 PMID:16407265 PMID:17206620 PMID:23692737 PMID:25944380 PMID:28492532 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 OMIM
ClinVar
PMID:10982177 PMID:11288717 PMID:23692737 PMID:25944380 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Cd86 CD86 molecule ISO associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) RGD PMID:23840845 RGD:11354974 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO associated with hepatitis C; protein:increased expression:serum RGD PMID:18775023 RGD:27095893 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Ifnl3 interferon, lambda 3 susceptibility
severity
ISO associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:24293567, PMID:24293567 RGD:11528546, RGD:11528546 NCBI chr 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
JBrowse link
G Tcn2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tslp thymic stromal lymphopoietin ISS MouseDO NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO associated with Chronic Hepatitis C; mRNA:increased expression:B cell RGD PMID:26219420 RGD:30296664 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Tslp thymic stromal lymphopoietin ISO associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 susceptibility ISO RGD PMID:10417273 RGD:1598739 NCBI chr10:36,098,051...36,304,416
Ensembl chr10:36,098,051...36,304,409
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 susceptibility ISO DNA:transition:exon;808C>T RGD PMID:10473568 RGD:1599433 NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO
ISS
DNA:transition mutation:splice junction:
OMIM:225400
MouseDO PMID:24443344 RGD:11571617 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO RGD PMID:15077201 RGD:1581198 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:deletion:promoter, exons, introns
ClinVar
CTD
PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25846194 PMID:27011056 PMID:27964749 PMID:28492532 PMID:28748566 PMID:30374176, PMID:10706896, PMID:1370809, PMID:21071432, PMID:16012458 RGD:1300381, RGD:11041602, RGD:11041599, RGD:7257554 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
DNA:repeat:intron:IVS17 (human)
ClinVar PMID:12145749, PMID:11278977, PMID:10777716, PMID:8752669 RGD:1581210, RGD:1581211, RGD:1581212, RGD:734808 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions RGD PMID:9425231 RGD:734809 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Dcn decorin ISS OMIM:225400 MouseDO NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Lox lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISS
ISO
OMIM:225400
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G74D (human)
CTD PMID:18985159, PMID:18985159, PMID:18985159 RGD:11553861, RGD:11553861 NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnxb tenascin XB ISO RGD PMID:11642233 RGD:1599494
Ehlers-Danlos syndrome arthrochalasia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type
ClinVar Annotator: match by term: Arthrochalasis multiplex congenita
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A
ClinVar
OMIM
PMID:2037280 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28166811 PMID:28378289 PMID:28492532 PMID:29543232, PMID:9295084 RGD:734803 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by OMIM:130060 ClinVar NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 PMID:19019335 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:24033266 PMID:24685354 PMID:24951259 PMID:25741868 PMID:26608033 PMID:26854089 PMID:27011056 PMID:28166811 PMID:28492532 PMID:29924831 PMID:30858776 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar PMID:25326637 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
Ehlers-Danlos syndrome arthrochalasia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 ClinVar PMID:9443882 PMID:18311573 PMID:21667357 PMID:22206639 PMID:25944380 PMID:26627451 PMID:28492532 PMID:32581362 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
ClinVar
OMIM
PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 PMID:2454224 PMID:2777808 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3621666 PMID:3680255 PMID:3733683 PMID:4742738 PMID:6092353 PMID:6773953 PMID:7695699 PMID:7860070 PMID:7864655 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8456808 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9536098 PMID:9594376 PMID:9923651 PMID:10976985 PMID:11288717 PMID:11317364 PMID:15077201 PMID:15172002 PMID:16705691 PMID:16816023 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18996919 PMID:19344236 PMID:21520333 PMID:21884818 PMID:22589248 PMID:24033266 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27056980 PMID:27510842 PMID:27519266 PMID:28492532 PMID:31319225 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
Ehlers-Danlos syndrome cardiac valvular type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome cardiac valvular type ClinVar PMID:2037280 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28166811 PMID:28378289 PMID:28492532 PMID:29543232 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
ClinVar Annotator: match by term: Ehlers-Danlos syndrome cardiac valvular type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225320
OMIM
ClinVar
CTD
PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:9016532 PMID:9272740 PMID:9295084 PMID:9594376 PMID:15077201 PMID:16705691 PMID:16816023 PMID:17078022 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26604951 PMID:27519266 PMID:28492532 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
Ehlers-Danlos syndrome classic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
JBrowse link
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 ClinVar PMID:25741868 PMID:30759870 NCBI chr14:86,101,253...86,111,323
Ensembl chr14:86,101,277...86,111,306
JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,279,429...7,394,509
Ensembl chr 3:7,279,340...7,394,513
JBrowse link
G Barhl1 BarH-like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,491,234...7,498,555
Ensembl chr 3:7,491,234...7,498,555
JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,995,204...6,054,467
Ensembl chr 3:5,997,315...6,054,483
JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,555,807...5,571,205
Ensembl chr 3:5,555,807...5,572,064
JBrowse link
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 4:29,638,280...29,693,151
Ensembl chr 4:29,639,154...29,691,928
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,508,500...7,632,311
Ensembl chr 3:7,508,496...7,632,345
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 ClinVar PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
ClinVar PMID:1978725 PMID:1990009 PMID:2454224 PMID:2777808 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3680255 PMID:4742738 PMID:6092353 PMID:6773953 PMID:7693712 PMID:7695699 PMID:7749416 PMID:7860070 PMID:7891382 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8829649 PMID:9016532 PMID:9099837 PMID:9272740 PMID:9399846 PMID:9536098 PMID:9594376 PMID:9923651 PMID:10027910 PMID:11288717 PMID:11317364 PMID:11359465 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18311573 PMID:18996919 PMID:19344236 PMID:19594296 PMID:21520333 PMID:21667357 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23548243 PMID:23692737 PMID:23934635 PMID:24033266 PMID:24342908 PMID:24501682 PMID:24668929 PMID:25146735 PMID:25289482 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26551090 PMID:26604951 PMID:26627451 PMID:27056980 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28725987 PMID:28810924 PMID:29595812 PMID:29807018 PMID:30283887 PMID:30715774 PMID:31363794 PMID:31414283 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by OMIM:130000
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:7695699 PMID:8218237 PMID:8575750 PMID:8752669 PMID:8923000 PMID:8950675 PMID:9042913 PMID:9536098 PMID:9683580 PMID:10471441 PMID:10602121 PMID:10777716 PMID:10796876 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15264295 PMID:15580559 PMID:17576681 PMID:19019335 PMID:19344236 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24088041 PMID:24685354 PMID:24951259 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26188975 PMID:26608033 PMID:26633545 PMID:26854089 PMID:27011056 PMID:28166811 PMID:28454995 PMID:28485813 PMID:28492532 PMID:28550590 PMID:28714197 PMID:28750028 PMID:29924831 PMID:30858776 PMID:31064749 PMID:31903434 PMID:32581362 PMID:32720758 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO
ISS
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE
OMIM:130000
ClinVar
MouseDO
PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 PMID:9783710 PMID:11940702 PMID:15580559 PMID:17576681 PMID:19344236 PMID:20301422 PMID:22696272 PMID:23587214 PMID:25326637 PMID:25741868 PMID:27854218 PMID:28132693 PMID:28166811 PMID:28492532 PMID:28550590 PMID:28855619 PMID:28991257 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,422,871...7,488,299
Ensembl chr 3:7,422,820...7,488,617
JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,656,400...5,693,273
Ensembl chr 3:5,656,163...5,693,147
JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:6,617,816...6,626,193
Ensembl chr 3:6,617,751...6,626,284
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,076,582...7,079,652 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:3,255,645...3,266,276
Ensembl chr 3:3,255,638...3,266,260
JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,404,857...7,422,779
Ensembl chr 3:7,404,841...7,422,738
JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,144,354...7,164,678
Ensembl chr 3:7,144,250...7,164,654
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:3,272,150...3,274,792
Ensembl chr 3:3,272,193...3,274,547
JBrowse link
G Lum lumican ISS OMIM:130000 MouseDO NCBI chr 7:38,820,058...38,826,862
Ensembl chr 7:38,819,771...38,826,862
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,453,678...5,458,760
Ensembl chr 3:5,453,614...5,458,782
Ensembl chr 3:5,453,614...5,458,782
JBrowse link
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,884,793...8,059,003
Ensembl chr 3:7,884,822...8,059,003
JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,051,695...7,056,726
Ensembl chr 3:7,051,695...7,058,521
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385
JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:2,908,684...2,913,362
Ensembl chr 3:2,910,083...2,913,362
JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:6,761,031...6,798,739
Ensembl chr 3:6,773,813...6,798,737
JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:2,935,396...2,938,883 JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,032,118...7,040,615 JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,090,134...7,130,548
Ensembl chr 3:7,109,920...7,130,548
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:8,189,594...8,307,077
Ensembl chr 3:8,192,575...8,304,976
JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,500,578...5,510,908
Ensembl chr 3:5,500,589...5,510,908
JBrowse link
G RGD1306233 similar to hypothetical protein MGC29761 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,047,603...7,051,953
Ensembl chr 3:7,047,603...7,051,953
JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,458,985...5,461,627
Ensembl chr 3:5,459,160...5,461,583
Ensembl chr 3:5,459,160...5,461,583
JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sgce sarcoglycan, epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 4:29,726,140...29,769,902
Ensembl chr 4:29,726,146...29,778,039
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,567,729...5,575,144
Ensembl chr 3:5,568,321...5,575,136
JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:3,290,766...3,295,226
Ensembl chr 3:3,291,084...3,295,101
JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,269,851...7,279,253
Ensembl chr 3:7,269,853...7,278,758
JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,481,524...5,500,568
Ensembl chr 3:5,481,522...5,500,583
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,464,593...5,468,426
Ensembl chr 3:5,464,424...5,468,244
Ensembl chr 3:5,464,424...5,468,244
JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,468,284...5,481,447
Ensembl chr 3:5,461,770...5,483,239
JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,441,404...5,452,156
Ensembl chr 3:5,441,409...5,452,156
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:30675029 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:7,635,630...7,660,153
Ensembl chr 3:7,635,933...7,660,673
JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:11,271,874...11,277,757
Ensembl chr 3:11,271,885...11,277,757
JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:5,811,504...5,976,311
Ensembl chr 3:5,811,504...5,976,244
JBrowse link
G Vegp2 von Ebners gland protein 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:4,217,260...4,221,330
Ensembl chr 3:4,217,260...4,221,330
JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:6,061,892...6,080,724
Ensembl chr 3:6,061,940...6,080,680
JBrowse link
Ehlers-Danlos syndrome classic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2
CTD
ClinVar
PMID:8752669 PMID:9042913 PMID:25741868 PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome classic type 2
ClinVar
OMIM
PMID:2855059 PMID:11940702 PMID:25326637 PMID:25741868 PMID:27854218 PMID:28132693 PMID:28166811 PMID:28492532 PMID:28550590 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
Ehlers-Danlos syndrome classic-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency
ClinVar Annotator: match by term: Ehlers-Danlos-like syndrome due to tenascin-X deficiency
ClinVar Annotator: match by OMIM:606408
OMIM
ClinVar
PMID:1620134 PMID:9288108 PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 PMID:20649799 PMID:23284009 PMID:23768946 PMID:24033266 PMID:24088041 PMID:25741868 PMID:26075496 PMID:26633545 PMID:28344932 PMID:31731524
Ehlers-Danlos syndrome classic-like 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 ClinVar
OMIM
PMID:25741868 PMID:27023906 PMID:29606302 NCBI chr14:86,101,253...86,111,323
Ensembl chr14:86,101,277...86,111,306
JBrowse link
Ehlers-Danlos syndrome dermatosparaxis type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type vii, autosomal recessive
ClinVar Annotator: match by OMIM:225410
DNA:deletions: :
OMIM
ClinVar
PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 PMID:10417273 PMID:15373769 PMID:15389701 PMID:17576681 PMID:18973246 PMID:22863189 PMID:23495203 PMID:25741868 PMID:26765342 PMID:28346524 PMID:28492532 PMID:29843651, PMID:15373769 RGD:1598738 NCBI chr10:36,098,051...36,304,416
Ensembl chr10:36,098,051...36,304,409
JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,800,942...35,833,939
Ensembl chr10:35,800,942...35,833,861
JBrowse link
G Cby3 chibby family member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,855,320...35,860,266
Ensembl chr10:35,857,797...35,860,987
JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,872,619...35,879,911
Ensembl chr10:35,870,232...35,879,910
JBrowse link
G LOC502109 similar to FLJ46321 protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr17:2,804,181...2,809,126
Ensembl chr17:2,804,307...2,808,368
JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,736,486...35,743,088
Ensembl chr10:35,737,664...35,739,625
JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,765,196...35,801,375
Ensembl chr10:35,765,719...35,800,120
JBrowse link
G Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,726,501...35,736,338
Ensembl chr10:35,726,544...35,736,338
JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,882,805...35,927,268
Ensembl chr10:35,882,805...35,927,268
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:28492532 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
Ehlers-Danlos syndrome hypermobility type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO DNA:missense mutation: :p.G637S (2512G>A) (human)
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type
ClinVar PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 PMID:29590070 PMID:30087447 PMID:31531849, PMID:7833919 RGD:11041770 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637
Ehlers-Danlos syndrome kyphoscoliotic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE ClinVar NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225400
OMIM
ClinVar
CTD
PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 PMID:4373475 PMID:5016372 PMID:6089551 PMID:7977351 PMID:8163671 PMID:8449506 PMID:8533783 PMID:8574422 PMID:8981946 PMID:9152832 PMID:9220536 PMID:9450904 PMID:9536098 PMID:9617436 PMID:9893157 PMID:10329027 PMID:10874315 PMID:11001813 PMID:14565595 PMID:15666309 PMID:15979919 PMID:16758144 PMID:17576681 PMID:19320026 PMID:21699693 PMID:22001912 PMID:25277362 PMID:25326635 PMID:25637337 PMID:25741868 PMID:28384719 PMID:28492532 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar Annotator: match by OMIM:614557
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:31132235 NCBI chr 4:84,753,628...84,768,314
Ensembl chr 4:84,753,633...84,768,249
JBrowse link
Ehlers-Danlos syndrome musculocontractural type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601776
OMIM
ClinVar
CTD
PMID:1184396 PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:22581468 PMID:22987394 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 PMID:28492532 NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2
ClinVar Annotator: match by OMIM:615539
OMIM
ClinVar
PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 OMIM
ClinVar
PMID:1221956 PMID:1640425 PMID:3631078 PMID:10473568 PMID:10506123 PMID:15211654 PMID:18158310 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:28882145 NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,340,060...173,354,756
Ensembl chr 5:173,340,060...173,354,755
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar
OMIM
PMID:19492091 PMID:23664117 PMID:24766538 PMID:25149931 PMID:25741868 PMID:27023906 PMID:28492532 PMID:28649518 PMID:29443383 PMID:29620724 PMID:29931299 NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,390,901...173,395,276
Ensembl chr 5:173,390,901...173,395,276
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930
JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,624,862...173,629,124
Ensembl chr 5:173,624,310...173,626,248
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,489,366...173,489,454 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,488,331...173,488,415
Ensembl chr 5:173,488,331...173,488,415
JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,326,755...173,339,934
Ensembl chr 5:173,336,034...173,340,026
JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,542,058...173,559,761
Ensembl chr 5:173,542,358...173,559,761
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,561,016...173,566,844 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,471,020...173,517,783
Ensembl chr 5:173,471,010...173,484,986
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 5:173,372,659...173,387,084
Ensembl chr 5:173,372,669...173,387,104
JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
DNA:deletion:cds:c.483_491del9 (human)
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612350
OMIM
ClinVar
PMID:18513683 PMID:18985159 PMID:24033266 PMID:25741868 PMID:28492532, PMID:18513683 RGD:11553863 NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
JBrowse link
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV
ClinVar PMID:1352273 PMID:1357232 PMID:1370809 PMID:1496983 PMID:1568754 PMID:1619632 PMID:1672129 PMID:1757960 PMID:1895316 PMID:1939638 PMID:1998337 PMID:2002056 PMID:2049575 PMID:2145268 PMID:2235526 PMID:2243125 PMID:2349939 PMID:2365710 PMID:2492273 PMID:2583342 PMID:2710295 PMID:2771024 PMID:2808425 PMID:2834369 PMID:2981879 PMID:3076851 PMID:3162228 PMID:3204406 PMID:6477831 PMID:6507506 PMID:7230200 PMID:7581395 PMID:7695699 PMID:7749417 PMID:7912131 PMID:8098182 PMID:8218237 PMID:8320698 PMID:8477261 PMID:8514866 PMID:8664902 PMID:8680408 PMID:8881656 PMID:8990011 PMID:9036918 PMID:9147870 PMID:9399899 PMID:9536098 PMID:9546243 PMID:9841712 PMID:10051163 PMID:10706896 PMID:10923041 PMID:10928898 PMID:11577371 PMID:12131463 PMID:12694234 PMID:12786757 PMID:16751282 PMID:16863833 PMID:17053184 PMID:17122455 PMID:17224388 PMID:17251678 PMID:17576681 PMID:17728513 PMID:18043893 PMID:18272325 PMID:19011090 PMID:19248182 PMID:19344236 PMID:19424605 PMID:19695909 PMID:19993915 PMID:20052764 PMID:20518783 PMID:20648054 PMID:21086191 PMID:21520333 PMID:21533953 PMID:21637106 PMID:21984974 PMID:22001912 PMID:22019127 PMID:22038052 PMID:22492385 PMID:22610159 PMID:22647446 PMID:22713205 PMID:23148498 PMID:23234825 PMID:23293852 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24922459 PMID:24951259 PMID:25149929 PMID:25205403 PMID:25326637 PMID:25355833 PMID:25503501 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26333736 PMID:26497932 PMID:26854089 PMID:27011056 PMID:27153395 PMID:27168972 PMID:27306637 PMID:27611364 PMID:27888582 PMID:27964749 PMID:28087566 PMID:28166811 PMID:28258187 PMID:28349240 PMID:28492532 PMID:28655553 PMID:28742248 PMID:28748566 PMID:29216800 PMID:29510914 PMID:29543232 PMID:29590070 PMID:29778910 PMID:30087447 PMID:30115950 PMID:30122538 PMID:30374176 PMID:30379966 PMID:30474650 PMID:30675029 PMID:30793832 PMID:30919682 PMID:30999998 PMID:31126764 PMID:31531849 PMID:31719132 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link
G Wdr75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr 9:52,687,845...52,717,808
Ensembl chr 9:52,687,868...52,717,809
JBrowse link
Ehlers-Danlos Syndrome Type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:2404284 PMID:8347685 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:1867198 PMID:2037280 PMID:2767050 PMID:3082886 PMID:6462220 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:11090261 PMID:11317364 PMID:11432962 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17309652 PMID:18028452 PMID:18272325 PMID:18409203 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19550437 PMID:20696291 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22589248 PMID:22753364 PMID:24147872 PMID:24390061 PMID:24668929 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26633542 PMID:27060301 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27549894 PMID:27748872 PMID:28166811 PMID:28378289 PMID:28492532 PMID:29543232 PMID:29946973 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:25441681 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO ClinVar Annotator: match by OMIM:130080
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 8
ClinVar
OMIM
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 PMID:27663155 PMID:27745832 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE ClinVar PMID:27745832 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
Ehlers-Danlos Syndrome, Periodontal Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2 ClinVar PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:27663155 PMID:27745832 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2
ClinVar
OMIM
PMID:25741868 PMID:27745832 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
JBrowse link
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc fragment of IgG receptor IIIa treatment ISO DNA:polymorphism: :p.V176F (human) RGD PMID:21538321 RGD:11344956 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
Henoch-Schoenlein purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme disease_progression ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen severity ISO DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.T174M (human)
RGD PMID:16521052, PMID:20702504 RGD:11039045, RGD:11039055 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518C>T (human)
protein:increased expression:serum (human)
RGD PMID:26234573, PMID:25839768 RGD:11522500, RGD:11528567 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Kng2 kininogen 2 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Mefv MEFV innate immuity regulator, pyrin susceptibility ISO DNA:mutations:exons:
DNA:mutations:cds:
DNA:mutation:exon:p. E148Q (human)
RGD PMID:22451026, PMID:25232290, PMID:20602240 RGD:7349346, RGD:11531116, RGD:7349347 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298 PMID:12671112 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) RGD PMID:11836690 RGD:5147830 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
hereditary hemorrhagic telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20135064 PMID:21158752 PMID:25637381 PMID:26176610 PMID:28492532, PMID:15024723 RGD:1300352 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Eng endoglin no_association ISO HHT1, OMIM:187300;DNA:point mutation:Y277X, DNA:deletion:exon
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER
DNA:mutations:
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
ClinVar
CTD
PMID:8162075 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 PMID:10545596 PMID:10625079 PMID:10702408 PMID:10749981 PMID:11343967 PMID:11440987 PMID:11793473 PMID:12673790 PMID:12786761 PMID:12920067 PMID:15024723 PMID:15115879 PMID:15312062 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:16287957 PMID:16429404 PMID:16470589 PMID:16525724 PMID:16690726 PMID:16705692 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20135064 PMID:20414677 PMID:20656886 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21967607 PMID:22022569 PMID:22192717 PMID:22385575 PMID:22722545 PMID:22991266 PMID:23298310 PMID:23399955 PMID:23535011 PMID:23710379 PMID:23722869 PMID:23801935 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24921008 PMID:25080347 PMID:25312062 PMID:25326635 PMID:25637381 PMID:25674101 PMID:25741868 PMID:25970827 PMID:26167679 PMID:26387786 PMID:26395556 PMID:27146957 PMID:28166811 PMID:28231770 PMID:28492532 PMID:28655553 PMID:29171923 PMID:29305977 PMID:29743074 PMID:30029678 PMID:30120215 PMID:30578397 PMID:31400083 PMID:31727138 PMID:32573726 PMID:32581362, PMID:7894484, PMID:16752392, PMID:10899246, PMID:10562296, PMID:9245986, PMID:15375013, PMID:15024723 RGD:1601038, RGD:11035216, RGD:11041566, RGD:11041563, RGD:11041183, RGD:11041169, RGD:1300352 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Gdf2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr16:10,267,510...10,293,545
Ensembl chr16:10,267,482...10,273,239
JBrowse link
G Smad4 SMAD family member 4 ISO DNA:missense,frameshift, nonsense mutations:exons: RGD PMID:16613914 RGD:11035218 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Tnf tumor necrosis factor ISO protein:decreased expression:blood, lymphocyte RGD PMID:16611101 RGD:10450733 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1 ClinVar PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16705692 PMID:17219009 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18673552 PMID:20414677 PMID:20501893 PMID:21158752 PMID:23722869 PMID:23919827 PMID:24196379 PMID:25741868 PMID:26387786 PMID:28492532 PMID:31220907 PMID:32573726 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
ClinVar
OMIM
PMID:2601709 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 PMID:10545596 PMID:10625079 PMID:10749981 PMID:10982033 PMID:11343967 PMID:11440987 PMID:12673790 PMID:12786761 PMID:12920067 PMID:14684682 PMID:15024723 PMID:15312062 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:16429404 PMID:16525724 PMID:16542389 PMID:16690726 PMID:16705692 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18607909 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20414677 PMID:20656886 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21967607 PMID:22022569 PMID:22192717 PMID:22385575 PMID:22991266 PMID:23298310 PMID:23399955 PMID:23535011 PMID:23722869 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24921008 PMID:25312062 PMID:25326635 PMID:25637381 PMID:25674101 PMID:25741868 PMID:25970827 PMID:26167679 PMID:26387786 PMID:28166811 PMID:28231770 PMID:28492532 PMID:29171923 PMID:29305977 PMID:30029678 PMID:30251589 PMID:30374176 PMID:31727138 PMID:32573726 PMID:32581362, PMID:15907823 RGD:11041166 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1 ClinVar NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:plasma: RGD PMID:15907823 RGD:11041166 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 2
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type II
DNA:mutations:
DNA:deletion, insertion and missense mutations:exons:
DNA:nonsense mutation:cds:145del(human)
ClinVar Annotator: match by term: Haemorrhagic telangiectasia 2
ClinVar Annotator: match by OMIM:600376
OMIM
ClinVar
PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098 PMID:10187774 PMID:10694922 PMID:10767348 PMID:11170071 PMID:11484689 PMID:12114496 PMID:12700602 PMID:12843319 PMID:14684682 PMID:15024723 PMID:15065824 PMID:15375013 PMID:15517393 PMID:15687131 PMID:15712270 PMID:15712271 PMID:15879500 PMID:15880681 PMID:16123970 PMID:16282348 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16540754 PMID:16542389 PMID:16690726 PMID:16705692 PMID:16706966 PMID:16752392 PMID:16861286 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18159113 PMID:18285823 PMID:18312453 PMID:18498373 PMID:18673552 PMID:19357124 PMID:19508727 PMID:19555857 PMID:19767588 PMID:20056902 PMID:20414677 PMID:20501893 PMID:21158752 PMID:21378382 PMID:22028876 PMID:22377182 PMID:22553411 PMID:22632830 PMID:22718755 PMID:22781769 PMID:22799562 PMID:22991266 PMID:23124896 PMID:23298310 PMID:23568730 PMID:23653583 PMID:23722869 PMID:23729109 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24603890 PMID:24753439 PMID:25326635 PMID:25637381 PMID:25741868 PMID:25778885 PMID:25970827 PMID:26176610 PMID:26245826 PMID:26387786 PMID:26401274 PMID:27291782 PMID:27316748 PMID:27630060 PMID:28166811 PMID:28492532 PMID:28655553 PMID:29171923 PMID:29449337 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29923633 PMID:30244195 PMID:31220907 PMID:31327192 PMID:31727138 PMID:32165824 PMID:32573726 PMID:32581362, PMID:16752392, PMID:12588795, PMID:17219009, PMID:18543223 RGD:11035216, RGD:11035214, RGD:11035213, RGD:10769364 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Oral cavity telangiectasia ClinVar PMID:25741868 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf2 growth differentiation factor 2 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5
ClinVar Annotator: match by OMIM:615506
OMIM
ClinVar
PMID:23972370 PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:32573726 NCBI chr16:10,267,510...10,293,545
Ensembl chr16:10,267,482...10,273,239
JBrowse link
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
DNA:mutations:exon:multiple
DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by OMIM:175050
OMIM
ClinVar
PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10441006 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11583957 PMID:11782434 PMID:11977156 PMID:12116240 PMID:12417513 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:15754356 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17576681 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20685751 PMID:21465659 PMID:21572342 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22875147 PMID:23239472 PMID:23399955 PMID:24033266 PMID:24398790 PMID:24465802 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25931195 PMID:25980754 PMID:26467025 PMID:26572829 PMID:26619011 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27562837 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28492532 PMID:28528518 PMID:28655553 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29684080 PMID:30809044 PMID:30842500 PMID:31159747 PMID:32573726, PMID:20101697, PMID:15031030 RGD:11062720, RGD:11070199 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
multiple myeloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 treatment ISO RGD PMID:26314844, PMID:16917002 RGD:11081075, RGD:11081144 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Ace angiotensin I converting enzyme ISO protein:increased activity:serum RGD PMID:22345095 RGD:11038914 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17096887 RGD:11035276 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Arid4a AT-rich interaction domain 4A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:93,461,713...93,532,901
Ensembl chr 6:93,461,713...93,532,901
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Aurka aurora kinase A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:170,364,177...170,380,278
Ensembl chr 3:170,364,181...170,378,210
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:26619011 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:78,297,723...78,368,777
Ensembl chr 9:78,294,834...78,369,031
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644, PMID:14656874 RGD:11353847 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bcl2l10 BCL2 like 10 ISO protein:increased expression:bone marrow : RGD PMID:27455953 RGD:14392808 NCBI chr 8:82,288,705...82,294,750
Ensembl chr 8:82,288,705...82,294,744
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:135,187,468...135,233,859
Ensembl chr  X:135,187,468...135,233,839
JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Myelomatosis
ClinVar PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19913317 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29595366 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr 7:37,812,831...37,815,088
Ensembl chr 7:37,812,831...37,815,088
JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA:decreased expression:mononuclear cell: RGD PMID:23948411 RGD:11038794 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cbx7 chromobox 7 susceptibility ISO DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD Direct Evidence: marker/mechanism
CTD PMID:23955597, PMID:23955597 RGD:11352716 NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: Multiple myeloma, translocation 11,14 type
CTD Direct Evidence: marker/mechanism
DNA:snp:exon:c.870G>A (rs603965) (human)
ClinVar
CTD
OMIM
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244, PMID:15755896, PMID:23502783 RGD:1581171, RGD:11353784 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 9:15,404,816...15,410,905
Ensembl chr 9:15,404,822...15,410,943
JBrowse link
G Cd40 CD40 molecule treatment ISO human cells in a mouse model RGD PMID:10866315 RGD:11522720 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment
disease_progression
ISO protein:increased expression:serum (human) RGD PMID:15565183, PMID:27243341, PMID:22403003 RGD:11352240, RGD:11352268, RGD:11352251 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:plasma cell (human) RGD PMID:16728275 RGD:11352814 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:bone marrow, plasma cell (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16611307, PMID:22705596 RGD:11354971 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:22804906 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29774366 NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO DNA:hypermethylation::
CTD Direct Evidence: marker/mechanism
CTD PMID:16008847, PMID:12681979 RGD:11252185 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2c cyclin-dependent kinase inhibitor 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 5:129,347,731...129,352,886
Ensembl chr 5:129,347,732...129,352,886
JBrowse link
G Cfhr1 complement factor H-related 1 treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16930142 RGD:4892645 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Crbn cereblon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma
CTD
ClinVar
PMID:26186254 NCBI chr 4:138,864,910...138,885,786
Ensembl chr 4:138,866,761...138,885,556
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7540856 PMID:8104070 PMID:8555506 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7534716 PMID:7540856 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr19:19,264,984...19,323,817
Ensembl chr19:19,265,164...19,315,357
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility ISO DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) RGD PMID:18285692 RGD:11352726 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 treatment
no_association
ISO DNA:polymorphisms: : RGD PMID:17666363, PMID:20684753 RGD:11352748, RGD:11352804 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 no_association ISO DNA:polymorphisms: : RGD PMID:20684753 RGD:11352804 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:37,579,959...37,595,300
Ensembl chr  X:37,579,957...37,595,486
JBrowse link
G Eng endoglin severity ISO protein:increased expression:serum: RGD PMID:23576184 RGD:11041181 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Ephx1 epoxide hydrolase 1 no_association
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:rs2234922 (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
CTD PMID:16949155, PMID:19736056, PMID:24521996, PMID:16949155 RGD:11252116, RGD:11252122, RGD:11252121 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO DNA:SNP: :rs735482 (human) RGD PMID:21435719 RGD:10450871 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression ISO DNA:polymorphism: :p.K751Q (rs13181) (human) RGD PMID:22183071 RGD:11252199 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link
G Faslg Fas ligand disease_progression ISO RGD PMID:16321857 RGD:11049149 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa disease_progression
susceptibility
ISO DNA:polymorphism: :rs1801274(human) RGD PMID:25850245, PMID:17315188 RGD:11040778, RGD:11040938 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma
CTD
ClinVar
PMID:1908846 PMID:7773297 PMID:8858131 PMID:9207791 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11241532 PMID:11429702 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:16752380 PMID:16841094 PMID:18642369 PMID:19855393 PMID:21936542 PMID:25157968 PMID:25606676 PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Fgg fibrinogen gamma chain treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand disease_progression ISO protein:increased expression:serum: RGD PMID:26521986 RGD:11075232 NCBI chr 1:101,126,006...101,131,413
Ensembl chr 1:101,124,479...101,131,413
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:8599825 RGD:11352777 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gstm1 glutathione S-transferase mu 1 severity
no_association
ISO
IAGP
RGD PMID:17653713, PMID:15136237 RGD:10450826, RGD:10450846 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 disease_progression
treatment
no_association
ISO DNA:polymorphism: :
DNA:polymorphism:cds:p.I105V(human)
RGD PMID:23953887, PMID:17512053, PMID:18061666 RGD:10755413, RGD:11075094, RGD:10755419 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism CTD PMID:16949155, PMID:15136237, PMID:12624497 RGD:10450846, RGD:10450847 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:43,734,461...43,735,120
Ensembl chr17:43,734,461...43,735,120
JBrowse link
G H3c1 H3 clustered histone 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:43,616,206...43,616,735
Ensembl chr17:44,839,721...44,840,131
Ensembl chr17:44,839,721...44,840,131
Ensembl chr17:44,839,721...44,840,131
Ensembl chr17:44,839,721...44,840,131
JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation, haplotype:cds:p.C282Y (human) RGD PMID:10383894 RGD:8694350 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hk1 hexokinase 1 ISO RGD PMID:19996089 RGD:11353882 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Myelomatosis
ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12855565 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:serum: RGD PMID:7834632, PMID:7686390 RGD:11354981, RGD:11520780 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Myelomatosis
ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Myelomatosis
ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO protein:increased expression:serum,urine: RGD PMID:29940770 RGD:14985218 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP, polymorphisms:promoter:-1082G>A, (human)
protein:increased expression:serum
RGD PMID:11307152, PMID:11022130 RGD:11041888, RGD:11049458 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)
RGD PMID:25469832, PMID:1777241, PMID:17926179 RGD:11049156, RGD:11059513, RGD:11051973 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) RGD PMID:17926179 RGD:11051973 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist no_association ISO DNA:snp: :11100C>T (human)
DNA:repeats:intron:
RGD PMID:17926179, PMID:10848780 RGD:11051973, RGD:11522764 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO DNA:SNP: :-228120T>C(rs2107356)(human) RGD PMID:17315188 RGD:11040938 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8520508 PMID:12855565 PMID:19330649 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar
G Irf4 interferon regulatory factor 4 treatment
disease_progression
ISO DNA:translocation
CTD Direct Evidence: marker/mechanism
CTD PMID:18568025, PMID:10557056, PMID:21707574, PMID:17690696 RGD:11526161, RGD:11530055, RGD:11530019 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:22,302,664...22,349,298
Ensembl chr  X:22,302,485...22,348,627
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:25326635 PMID:25741868 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:25157968 PMID:26619011, PMID:16321859 RGD:1581756 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:1,784,078...1,817,310
Ensembl chr 1:1,784,078...1,817,310
JBrowse link
G Lig4 DNA ligase 4 ISO DNA:polymorphisms
ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Multiple myeloma, resistance to
ClinVar
OMIM
PMID:12471202 PMID:24033266 PMID:25741868 PMID:28492532, PMID:12471202 RGD:1600305 NCBI chr16:85,331,771...85,339,496
Ensembl chr16:85,331,866...85,337,769
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Myelomatosis
ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Maf MAF bZIP transcription factor ISS OMIM:254500 MouseDO NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr 2:197,786,212...197,788,992 JBrowse link
G Mefv MEFV innate immuity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M694V(human) RGD PMID:25202401 RGD:11531123 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO RGD PMID:11830493 RGD:2317526 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:111,669,645...111,760,822
Ensembl chr 3:111,699,021...111,759,911
JBrowse link
G Mir155 microRNA 155 disease_progression ISO miRNA:decreased expression:serum RGD PMID:25497370, PMID:28446295 RGD:21079441, RGD:24922226 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir19a microRNA 19a ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr15:100,180,162...100,180,243
Ensembl chr15:100,180,162...100,180,243
JBrowse link
G Mir92a1 microRNA 92a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr15:100,180,586...100,180,663
Ensembl chr15:100,180,586...100,180,663
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:116,686,601...116,700,132
Ensembl chr 8:116,686,601...116,700,132
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:missense mutations:cds:677C>T, 1298A>C (human) RGD PMID:24839819 RGD:10449397 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:polymorphism: :2756A>G(human) RGD PMID:17655928 RGD:11075095 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66G>A(human) RGD PMID:17655928 RGD:11075095 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Muc1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:9949172 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:26619011 PMID:28492532 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Ncor2 nuclear receptor co-repressor 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:36,871,917...37,033,701
Ensembl chr12:36,871,999...37,033,701
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO RGD PMID:16540234, PMID:12377412 RGD:2298898, RGD:2298895 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
G Notch2 notch receptor 2 ISO protein:increased expression:bone marrow (human) RGD PMID:14726396 RGD:1580763 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 no_association ISO DNA:missense mutation:cds:p.P187S (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P187S (609C>T) (human)
CTD PMID:16949155, PMID:18156703, PMID:18061666 RGD:10769348, RGD:10755419 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Nras NRAS proto-oncogene, GTPase treatment ISO DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma
ClinVar PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17699718 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248, PMID:24335104 RGD:11535049 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Nuak1 NUAK family kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873845 NCBI chr 7:25,039,336...25,111,118
Ensembl chr 7:25,039,335...25,113,664
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21917757 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:26619011 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:20,415,109...20,424,982
Ensembl chr16:20,416,432...20,424,980
JBrowse link
G Pml PML nuclear body scaffold severity ISO protein:increased expression:bone marrow (human) RGD PMID:22906876 RGD:41404686 NCBI chr 8:63,002,515...63,034,310
Ensembl chr 8:63,004,870...63,034,226
JBrowse link
G Pon1 paraoxonase 1 severity
susceptibility
treatment
ISO protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.Q192R (human)
RGD PMID:25520116, PMID:15136237, PMID:22348216 RGD:11552578, RGD:10450846, RGD:11040544 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16179254, PMID:24791872 RGD:11535030 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr20:3,727,817...3,728,805
Ensembl chr20:3,727,419...3,728,844
JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr 4:181,663,425...181,674,181 JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Multiple myeloma
ClinVar Annotator: match by term: Myelomatosis
ClinVar PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:18470943 PMID:18678287 PMID:19047918 PMID:19509418 PMID:21930766 PMID:23756559 PMID:23825065 PMID:24033266 PMID:25097206 PMID:26619011 PMID:26822237 PMID:27783593 PMID:28492532 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ranbp2 RAN binding protein 2 ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:19171422 RGD:9835349 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:splice variant RGD PMID:12560229 RGD:6482834 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:24,185,451...24,302,309
Ensembl chr 1:24,185,435...24,302,298
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15908783, PMID:15908783 RGD:1581238 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16208410 RGD:1581367 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:238,719,389...238,802,975
Ensembl chr 2:238,720,835...238,803,024
JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:115,060,702...115,160,800
Ensembl chr 4:115,066,309...115,157,263
JBrowse link
G Tfrc transferrin receptor treatment ISO RGD PMID:21654517 RGD:11062101 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO DNA:hypermethylation::
protein:decreased expression:serum:
RGD PMID:23699600, PMID:22560388 RGD:11073605, RGD:11073614 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor treatment
no_association
ISO DNA:SNP:promoter:-238G>A (human)
DNA:SNP:promoter:-308G>A (human)
RGD PMID:12200397, PMID:12815949 RGD:10449450, RGD:10449453 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b treatment ISO RGD PMID:16531263 RGD:11038719 NCBI chr15:51,433,853...51,464,215 JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
JBrowse link
G Tnfrsf17 TNF receptor superfamily member 17 ISO RGD PMID:15692072 RGD:2317306 NCBI chr10:4,252,097...4,258,335
Ensembl chr10:4,251,941...4,257,868
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tp53 tumor protein p53 disease_progression
treatment
ISO DNA:polymorphism:cds:p.R72P(human)
ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma
DNA:deletion: :
protein:increased expression:nucleus:
ClinVar PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2826609 PMID:7651740 PMID:7732013 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8164043 PMID:8364550 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8688334 PMID:8718514 PMID:9020384 PMID:9096669 PMID:9157982 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9635828 PMID:9667734 PMID:9825943 PMID:10064694 PMID:10411893 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10797439 PMID:10864200 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12406399 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12826609 PMID:12917626 PMID:14584079 PMID:14673037 PMID:15004724 PMID:15017592 PMID:15138567 PMID:15161705 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15993273 PMID:16258005 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16793544 PMID:16818505 PMID:16861262 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18978813 PMID:18989156 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20878954 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22844452 PMID:22866089 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22983585 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23264849 PMID:23340422 PMID:23538418 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24766216 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25925845 PMID:25952993 PMID:26014290 PMID:26022348 PMID:26230955 PMID:26467025 PMID:26534844 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28915717 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30306255 PMID:30327374 PMID:30720243 PMID:30816478 PMID:31206626 PMID:31775759 PMID:32000721 PMID:32295079, PMID:24611901, PMID:12745272, PMID:22261445 RGD:11073716, RGD:11075073, RGD:11073728 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:138,855,497...138,869,217
Ensembl chr 4:138,855,641...138,869,217
JBrowse link
G Tyms thymidylate synthetase treatment
no_association
ISO DNA:polymorphism: :
DNA:repeats:5'UTR:
RGD PMID:17512053, PMID:17655928 RGD:11075094, RGD:11075095 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
G Ulk4 unc-51 like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120009 NCBI chr 8:129,631,003...129,919,080
Ensembl chr 8:129,632,149...129,919,120
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) RGD PMID:24687381 RGD:11079182 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Xpo5 exportin 5 severity ISO DNA:snp:3' utr:c.*659A>C (rs11077) (human) RGD PMID:22539802 RGD:11041735 NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
JBrowse link
G Xrcc4 X-ray repair cross complementing 4 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:17901044 RGD:8698655 NCBI chr 2:18,674,496...18,927,463
Ensembl chr 2:18,677,220...18,927,365
JBrowse link
G Xrcc5 X-ray repair cross complementing 5 susceptibility ISO DNA:SNP:3'-UTR (human) RGD PMID:17901044 RGD:8698655 NCBI chr 9:79,659,275...79,748,050
Ensembl chr 9:79,659,251...79,748,078
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cutis laxa, X-linked
ClinVar Annotator: match by term: Occipital horn syndrome
ClinVar Annotator: match by term: EDS IX
DNA:snp:intron:c.2553+3A>C (mouse)
DNA:transversion:intron:g.IVS10+3A>T (human)
ClinVar Annotator: match by OMIM:304150
OMIM
ClinVar
PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:9880610 PMID:10570920 PMID:10739752 PMID:11241493 PMID:11431706 PMID:17108763 PMID:18414213 PMID:20045993 PMID:23281160 PMID:24033266 PMID:25741868 PMID:28492532, PMID:7887410, PMID:9467005 RGD:11340205, RGD:11252184 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
plasma cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome
ClinVar Annotator: match by term: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME
OMIM
ClinVar
PMID:9050868 PMID:11577371 PMID:19455184 PMID:25205403 PMID:25741868 PMID:25758994 PMID:28258187 PMID:28492532 PMID:28742248 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
pseudoxanthoma elasticum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar PMID:11439001 PMID:16541094 NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 susceptibility
no_association
ISO
IMP
ClinVar Annotator: match by term: Pseudoxanthoma elasticum
ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:264800
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)
DNA:mutations:multiple
DNA:nonsense mutation:exon:p.Q378X (1132C>T) (human)
DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human)
DNA:mutations:exon, intron:multiple
DNA:mutations: :multiple
ClinVar
CTD
OMIM
PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 PMID:11179012 PMID:11427982 PMID:11439001 PMID:11474653 PMID:11493310 PMID:11536079 PMID:11692167 PMID:11702217 PMID:11880368 PMID:12069597 PMID:12176944 PMID:12384774 PMID:12673275 PMID:12714611 PMID:12928920 PMID:14631379 PMID:14667841 PMID:15086542 PMID:15098239 PMID:15184964 PMID:15459974 PMID:15645653 PMID:15723264 PMID:15727254 PMID:15894595 PMID:16086317 PMID:16086762 PMID:16127278 PMID:16392638 PMID:16410789 PMID:16541094 PMID:16543900 PMID:16571645 PMID:16573612 PMID:16835894 PMID:17045963 PMID:17617515 PMID:17724214 PMID:17823974 PMID:18049453 PMID:18157818 PMID:18253096 PMID:18800149 PMID:19339160 PMID:19726431 PMID:19904211 PMID:20034067 PMID:20799350 PMID:20801516 PMID:20849526 PMID:22209248 PMID:23415960 PMID:23702584 PMID:24008425 PMID:24033266 PMID:24088041 PMID:24727260 PMID:25062064 PMID:25264593 PMID:25741868 PMID:25758222 PMID:26029710 PMID:26084751 PMID:26633545 PMID:28041643 PMID:28102862 PMID:28492532 PMID:28912966 PMID:29709427 PMID:29800625 PMID:30805891 PMID:31240106 PMID:32372237 PMID:32818659 PMID:32860008 PMID:32873932, PMID:10835643, PMID:28111129, PMID:16835894, PMID:16835894, PMID:11692167, PMID:12714611, PMID:17617515, PMID:16392638, PMID:15459974, PMID:16135817 RGD:737772, RGD:13792593, RGD:11038786, RGD:11038786, RGD:11038785, RGD:11038782, RGD:11038781, RGD:11038779, RGD:11038778, RGD:11038737 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Abcc6em2Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 2, Qiaoli Li IMP RGD PMID:28111129 RGD:13792593
G Abcc6em3Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 3, Qiaoli Li IMP RGD PMID:28111129 RGD:13792593
G Abcc6em4Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 4, Qiaoli Li IMP RGD PMID:28111129 RGD:13792593
G Cat catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar PMID:11439001 PMID:16541094 NCBI chr10:730,215...751,061
Ensembl chr10:730,247...751,061
JBrowse link
G Eln elastin ISO RGD PMID:7524808, PMID:1936214 RGD:9585748, RGD:9585763 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Gpx1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar PMID:11439001 PMID:16541094 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum ClinVar PMID:16541094 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Sod2 superoxide dismutase 2 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum
ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of
OMIM
ClinVar
PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of
OMIM
ClinVar
CTD
PMID:16571645 PMID:25741868 NCBI chr10:82,386,003...82,399,485
Ensembl chr10:82,386,005...82,399,485
JBrowse link
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 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: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
DNA:mutations: :
ClinVar Annotator: match by OMIM:610842
OMIM
ClinVar
PMID:9615107 PMID:17110937 PMID:18800149 PMID:25741868 PMID:29175035, PMID:17110937 RGD:11040509 NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
JBrowse link
Shwartzman phenomenon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO RGD PMID:7593621 RGD:11049456 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:1381315 RGD:11060272 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Facial hemangioma ClinVar PMID:31474318 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link
vascular type Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type OMIM
ClinVar
PMID:2049575 PMID:2235526 PMID:2349939 PMID:7695699 PMID:8218237 PMID:8514866 PMID:8881656 PMID:8990011 PMID:9036918 PMID:9399899 PMID:9536098 PMID:10706896 PMID:10923041 PMID:16751282 PMID:17053184 PMID:17576681 PMID:18043893 PMID:18272325 PMID:19011090 PMID:19344236 PMID:19424605 PMID:20052764 PMID:21086191 PMID:21520333 PMID:21533953 PMID:21637106 PMID:21984974 PMID:22001912 PMID:22019127 PMID:22713205 PMID:23148498 PMID:23234825 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24922459 PMID:24951259 PMID:25503501 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26854089 PMID:27011056 PMID:27153395 PMID:27306637 PMID:27888582 PMID:27964749 PMID:28087566 PMID:28492532 PMID:28655553 PMID:28748566 PMID:29510914 PMID:29543232 PMID:29590070 PMID:29778910 PMID:30087447 PMID:30115950 PMID:30122538 PMID:30374176 PMID:30379966 PMID:30474650 PMID:30793832 PMID:30919682 PMID:30999998 PMID:31126764 PMID:31531849 PMID:31719132 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
Waldenstroem's macroglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO DNA:mutation:cds:1013C>G(p.S338X)(human) RGD PMID:24711662 RGD:11352304 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa disease_progression
treatment
ISO DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD PMID:21564078, PMID:15659493 RGD:11040774, RGD:11352262 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs: :multiple RGD PMID:19573080 RGD:11049165 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 no_association ISO DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)
DNA:SNPs: :multiple
RGD PMID:19573080, PMID:19573080 RGD:11049165, RGD:11049165 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:23355206 RGD:11530052 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Macroglobulinemia, waldenstrom, somatic
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:21179087 PMID:22931316 PMID:23215570 PMID:26619011 PMID:28492532 PMID:30126942 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
X-linked cardiac valvular dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked
DNA:missense mutations, deletion:cds, exons, introns:multiple (human)
OMIM
ClinVar
PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:16299064 PMID:17190868 PMID:17632775 PMID:24088041 PMID:25741868 PMID:26633545 PMID:26686323 PMID:26804200 PMID:27739212 PMID:28492532 PMID:29237676 PMID:30986657, PMID:17190868 RGD:11565121 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      cardiovascular system disease 4395
        vascular disease 3322
          vascular hemostatic disease 306
            Ehlers-Danlos syndrome + 113
            Henoch-Schoenlein purpura + 15
            Shwartzman phenomenon 2
            Waldenstroem's macroglobulinemia 6
            cavernous hemangioma + 13
            cryoglobulinemia + 9
            hereditary hemorrhagic telangiectasia + 6
            hyperglobulinemic purpura 0
            multiple myeloma + 147
            pseudoxanthoma elasticum + 21
            scurvy 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Hemic and Lymphatic Diseases 2166
        hematopoietic system disease 1751
          blood coagulation disease 636
            hemorrhagic disease 626
              vascular hemostatic disease 306
                Ehlers-Danlos syndrome + 113
                Henoch-Schoenlein purpura + 15
                Shwartzman phenomenon 2
                Waldenstroem's macroglobulinemia 6
                cavernous hemangioma + 13
                cryoglobulinemia + 9
                hereditary hemorrhagic telangiectasia + 6
                hyperglobulinemic purpura 0
                multiple myeloma + 147
                pseudoxanthoma elasticum + 21
                scurvy 1
paths to the root