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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:collagen disease
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Accession:DOID:854 term browser browse the term
Definition:Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)
Synonyms:exact_synonym: collagen diseases;   collagen disorder
 primary_id: MESH:D003095
 alt_id: RDO:0000795
 xref: NCI:C27204
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen, type IV, alpha 3 susceptibility ISO DNA:deletion, nonsense mutations
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11134255, PMID:12028435, PMID:12631109, PMID:14582039, PMID:14871398, PMID:15880327, PMID:15954103, PMID:17216251, PMID:18385178, PMID:19525337, PMID:20847057, PMID:21862460, PMID:22887978, PMID:23967202, PMID:24033266, PMID:24052634, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25407002, PMID:25514610, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26346198, PMID:26467025, PMID:26795916, PMID:26809805, PMID:26934356, PMID:27391953, PMID:27627812, PMID:27859054, PMID:28492532, PMID:28632965, PMID:7987301 RGD:1600924 NCBI chr 1:82,586,921...82,722,059
Ensembl chr 1:82,586,921...82,722,059
JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar PMID:1721625, PMID:9792860, PMID:11134255, PMID:11685592, PMID:11961012, PMID:12028435, PMID:12631110, PMID:14582039, PMID:14871398, PMID:15618242, PMID:15880327, PMID:17216251, PMID:17396119, PMID:19129241, PMID:19675380, PMID:20029656, PMID:22887978, PMID:23349334, PMID:23967202, PMID:24033266, PMID:24130771, PMID:25381091, PMID:25514610, PMID:25575550, PMID:25741868, PMID:25755845, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27884173, PMID:28059119, PMID:28492532, PMID:28780565, PMID:29098738 NCBI chr 1:82,448,419...82,587,034
Ensembl chr 1:82,448,423...82,586,849
JBrowse link
G Col4a5 collagen, type IV, alpha 5 ISO Alport Syndrome, OMIM:301050, DNA:deletion:exons
ClinVar Annotator: match by term: Alport syndrome
ClinVar PMID:8651292, PMID:9848783, PMID:10563487, PMID:11223851, PMID:18083113, PMID:19919694, PMID:23572034, PMID:25741868, PMID:26467025, PMID:27627812, PMID:28492532, PMID:2349482 RGD:1600687 NCBI chr  X:141,475,370...141,689,236
Ensembl chr  X:141,475,385...141,689,234
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism: :HLA-DRB1*16 (human) RGD PMID:15182324 RGD:7365078 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:22937108 RGD:7175090 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Mmp12 matrix metallopeptidase 12 IEP RGD PMID:16816359 RGD:7241212 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen, type IV, alpha 6 ISO OMIM NCBI chr  X:141,165,403...141,474,095
Ensembl chr  X:141,165,403...141,474,076
JBrowse link
autosomal dominant Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen, type IV, alpha 3 ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
OMIM
ClinVar
PMID:1400291, PMID:7987301, PMID:7987396, PMID:9195222, PMID:9269635, PMID:11044206, PMID:11134255, PMID:11961012, PMID:12028435, PMID:14582039, PMID:14871398, PMID:15954103, PMID:17216251, PMID:20847057, PMID:21897443, PMID:22887978, PMID:24033266, PMID:24052634, PMID:24130771, PMID:24633401, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25575550, PMID:25596306, PMID:25741868, PMID:26346198, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27281700, PMID:27391953, PMID:27932480, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28658201, PMID:29098738, PMID:29204651, PMID:29271581, PMID:29854973, PMID:30311386, PMID:30406062, PMID:30828794, PMID:31306228 NCBI chr 1:82,586,921...82,722,059
Ensembl chr 1:82,586,921...82,722,059
JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar PMID:9792860, PMID:11961012, PMID:12631110, PMID:12748344, PMID:15618242, PMID:19129241, PMID:21897443, PMID:24033266, PMID:24052634, PMID:24633401, PMID:25525159, PMID:25596306, PMID:25741868, PMID:26467025, PMID:26809805, PMID:28492532 NCBI chr 1:82,448,419...82,587,034
Ensembl chr 1:82,448,423...82,586,849
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant
ClinVar Annotator: match by OMIM:131750
OMIM
ClinVar
PMID:1680286, PMID:2653224, PMID:7577595, PMID:7861014, PMID:8170945, PMID:8288900, PMID:8755915, PMID:9347800, PMID:9668111, PMID:9856844, PMID:9892921, PMID:10084325, PMID:10408773, PMID:10469344, PMID:11781296, PMID:11874498, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16557343, PMID:16965329, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:24794830, PMID:25741868, PMID:28492532, PMID:28830826, PMID:30311386, PMID:32860008 NCBI chr 9:108,953,586...108,984,875
Ensembl chr 9:108,953,586...108,984,875
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042, PMID:8807337, PMID:25741868, PMID:30311386 NCBI chr15:101,707,069...101,712,905
Ensembl chr15:101,707,070...101,712,898
JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr1 chemokine (C-C motif) receptor 1 IMP RGD PMID:15716328 RGD:5688157 NCBI chr 9:123,962,126...123,968,692
Ensembl chr 9:123,962,124...123,968,692
JBrowse link
G Col4a3 collagen, type IV, alpha 3 ISO
IEA
ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
OMIM:203780
OMIM
ClinVar
MouseDO
PMID:1400291, PMID:7633417, PMID:7780062, PMID:7987301, PMID:7987396, PMID:8956999, PMID:9195222, PMID:9269635, PMID:9647515, PMID:11044206, PMID:11134255, PMID:11961012, PMID:12028435, PMID:14582039, PMID:14871398, PMID:15954103, PMID:17216251, PMID:17396119, PMID:18436078, PMID:20847057, PMID:21897443, PMID:22887978, PMID:23297803, PMID:23927549, PMID:23967202, PMID:24033266, PMID:24033287, PMID:24052634, PMID:24130771, PMID:24633401, PMID:24854265, PMID:24944784, PMID:25229338, PMID:25307543, PMID:25381091, PMID:25407002, PMID:25450602, PMID:25525159, PMID:25575550, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26277931, PMID:26346198, PMID:26467025, PMID:26594346, PMID:26795916, PMID:26809805, PMID:27281700, PMID:27627812, PMID:27796712, PMID:27859054, PMID:27932480, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28570636, PMID:28658201, PMID:29127259, PMID:29204651, PMID:29270492, PMID:29271581, PMID:29854973, PMID:29946535, PMID:30311386, PMID:30406062, PMID:30881523, PMID:31807928, PMID:32860008 NCBI chr 1:82,586,921...82,722,059
Ensembl chr 1:82,586,921...82,722,059
JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO
IEA
ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: Alport syndrome type 2
OMIM:203780
OMIM
ClinVar
MouseDO
PMID:7987396, PMID:8787673, PMID:9195222, PMID:9792860, PMID:11961012, PMID:12028435, PMID:12325029, PMID:12631110, PMID:12748344, PMID:14582039, PMID:15618242, PMID:15954103, PMID:16338941, PMID:17216251, PMID:17396119, PMID:19129241, PMID:19675380, PMID:20029656, PMID:21196518, PMID:21897443, PMID:22887978, PMID:23349334, PMID:23967202, PMID:24033266, PMID:24033287, PMID:24052634, PMID:24522496, PMID:24633401, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25381091, PMID:25514610, PMID:25525159, PMID:25596306, PMID:25741868, PMID:25755845, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27281700, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28632965, PMID:28968992, PMID:29098738, PMID:29801666, PMID:30311386 NCBI chr 1:82,448,419...82,587,034
Ensembl chr 1:82,448,423...82,586,849
JBrowse link
G Mpv17 MpV17 mitochondrial inner membrane protein IEA OMIM:203780 MouseDO NCBI chr 5:31,140,663...31,154,251
Ensembl chr 5:31,140,654...31,154,251
JBrowse link
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: EHLERS-DANLOS SYNDROME, TYPE VIB
ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar 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 2:118,926,497...118,928,585
Ensembl chr 2:118,926,496...118,928,585
JBrowse link
G Prdm5 PR domain containing 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 6:65,777,656...65,937,622
Ensembl chr 6:65,778,988...65,937,010
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
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:30311386 NCBI chr 8:122,043,123...122,272,650
Ensembl chr 8:122,258,620...122,272,650
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 domain containing 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 NCBI chr 6:65,777,656...65,937,622
Ensembl chr 6:65,778,988...65,937,010
JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FK506 binding protein 10 ISS
ISO
OMIM:259450 | OMIM:609220
ClinVar Annotator: match by term: Bruck Syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr 9:92,539,636...92,608,428
Ensembl chr 9:92,542,223...92,608,428
JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bruck syndrome 1
ClinVar Annotator: match by term: Kuskokwim disease
ClinVar Annotator: match by OMIM:259450
ClinVar
OMIM
PMID:9129737, PMID:9481655, PMID:9927692, PMID:20362275, PMID:20696291, PMID:20839288, PMID:21567934, PMID:22949511, PMID:23712425, PMID:25741868 NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Bruck syndrome 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609220
OMIM
ClinVar
PMID:9927692, PMID:12881513, PMID:15523624, PMID:22689593, PMID:25086671, PMID:25741868, PMID:28492532, PMID:29178448 NCBI chr 9:92,539,636...92,608,428
Ensembl chr 9:92,542,223...92,608,428
JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253
JBrowse link
G Sec24d Sec24 related gene family, member D (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:123,264,801...123,365,641
Ensembl chr 3:123,267,455...123,365,641
JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar
PMID:25683117 NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253
JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d Sec24 related gene family, member D (S. cerevisiae) ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar Annotator: match by term: Cole-carpenter syndrome 2
OMIM
ClinVar
PMID:25683121, PMID:26467156, PMID:27942778, PMID:30462379 NCBI chr 3:123,264,801...123,365,641
Ensembl chr 3:123,267,455...123,365,641
JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc1 centromere protein C1 ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr 5:86,012,018...86,065,962
Ensembl chr 5:86,012,024...86,065,583
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
diffuse scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing severity ISO protein:decreased expression:serum RGD PMID:21615510 RGD:8694418 NCBI chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Bank1 B cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) RGD PMID:19815934 RGD:9684975 NCBI chr 3:136,053,363...136,326,141
Ensembl chr 3:136,053,363...136,326,066
JBrowse link
G Cav1 caveolin 1, caveolae protein susceptibility
no_association
ISO DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human)
DNA:SNPs:enhancer, intron:multiple
RGD PMID:22402147, PMID:22402147 RGD:8661768, RGD:8661768 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Cxcl5 chemokine (C-X-C motif) ligand 5 ISO RGD PMID:18432520 RGD:5135258 NCBI chr 5:90,759,298...90,761,625
Ensembl chr 5:90,759,360...90,761,624
JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III ISO RGD PMID:8254199 RGD:5147984 NCBI chr 1:171,051,169...171,065,915
Ensembl chr 1:171,051,174...171,064,935
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphism::HLA-DQA1*0501; RGD PMID:11014350 RGD:8547725 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9034992 RGD:5684371 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il13 interleukin 13 ISO DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) RGD PMID:16832637 RGD:5684369 NCBI chr11:53,631,323...53,634,702
Ensembl chr11:53,631,324...53,634,702
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:20338043 RGD:12792275 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 susceptibility ISO DNA:missense mutation:cds:p.F196S (rs1059702) (human) RGD PMID:21898345 RGD:7495782 NCBI chr  X:74,013,914...74,023,921
Ensembl chr  X:74,013,914...74,023,918
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO DNA:SNP:introns: (rs7574865, rs10168266) (human)
DNA:SNP:intron: (rs7574865) (human)
DNA:SNP:intron: (rs3821236) (human)
RGD PMID:23755762, PMID:19286670, PMID:23755762 RGD:8661701, RGD:8661714, RGD:8661701 NCBI chr 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr17:34,187,556...34,197,225
Ensembl chr17:34,187,553...34,197,225
JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr17:34,204,479...34,216,321
Ensembl chr17:34,203,527...34,216,321
JBrowse link
G Tlr2 toll-like receptor 2 disease_progression ISO DNA:polymorphism:cds:p.P631H(rs5743704)(human) RGD PMID:21905008 RGD:8553044 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Wrn Werner syndrome RecQ like helicase ISO RGD PMID:16906373 RGD:10042980 NCBI chr 8:33,234,372...33,385,543
Ensembl chr 8:33,234,384...33,385,527
JBrowse link
Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2 susceptibility ISO RGD PMID:10417273 RGD:1598739 NCBI chr11:50,602,085...50,807,573
Ensembl chr11:50,602,084...50,807,573
JBrowse link
G B4galt7 xylosylprotein beta1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) susceptibility ISO DNA:transition:exon;808C>T RGD PMID:10473568 RGD:1599433 NCBI chr13:55,599,896...55,610,443
Ensembl chr13:55,599,896...55,610,443
JBrowse link
G C1rb complement component 1, r subcomponent B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr 6:124,570,430...124,581,044
Ensembl chr 6:124,570,294...124,581,171
JBrowse link
G Col1a1 collagen, type I, alpha 1 IAGP
IEA
DNA:transition mutation:splice junction:
OMIM:225400
MouseDO PMID:24443344 RGD:11571617 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO RGD PMID:15077201 RGD:1581198 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO
IAGP
DNA:mutation
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:deletion:promoter, exons, introns
DNA:mutations:multiple (human)
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:16012458, PMID:1370809, PMID:21071432, PMID:10706896 RGD:7257554, RGD:11041602, RGD:11041599, RGD:1300381 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:10777716, PMID:12145749, PMID:11278977 RGD:1581212, RGD:1581210, RGD:1581211 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions RGD PMID:9425231 RGD:734809 NCBI chr 1:45,374,331...45,503,282
Ensembl chr 1:45,374,321...45,503,282
JBrowse link
G Dcn decorin IEA OMIM:225400 MouseDO NCBI chr10:97,479,500...97,518,163
Ensembl chr10:97,479,609...97,518,143
JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
JBrowse link
G Lox lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chr18:52,516,060...52,529,867
Ensembl chr18:52,516,067...52,529,867
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 IEA
ISO
OMIM:225400
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
MouseDO
ClinVar
PMID:25741868, PMID:28492532 NCBI chr 4:147,909,753...147,936,776
Ensembl chr 4:147,909,753...147,936,767
JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 IMP
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 2:91,061,781...91,070,441
Ensembl chr 2:91,061,791...91,070,417
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tnxb tenascin XB ISO RGD PMID:11642233 RGD:1599494 NCBI chr17:34,660,453...34,719,815
Ensembl chr17:34,660,457...34,719,815
JBrowse link
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 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A
ClinVar Annotator: match by term: Arthrochalasis multiplex congenita
ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type
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:28378289, PMID:28492532, PMID:29543232, PMID:9295084 RGD:734803 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by OMIM:130060 ClinVar NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Col5a1 collagen, type V, alpha 1 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:28492532, PMID:30311386, PMID:30858776 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:45,374,331...45,503,282
Ensembl chr 1:45,374,321...45,503,282
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 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 chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 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
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:9594376, PMID:9923651, PMID:10976985, PMID:11288717, PMID:11317364, PMID:15077201, PMID:15172002, PMID:16705691, PMID:16816023, PMID:17078022, 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:30311386, PMID:31319225 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
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 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:28378289, PMID:28492532, PMID:29543232 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO 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, PMID:30311386 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
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 1700007K13Rik RIKEN cDNA 1700007K13 gene ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,462,001...28,466,324
Ensembl chr 2:28,462,001...28,466,332
JBrowse link
G Abo ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase, transferase B, alpha 1-3-galactosyltransferase) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,842,496...26,864,995
Ensembl chr 2:26,842,503...26,864,979
JBrowse link
G Adamts13 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,973,361...27,009,625
Ensembl chr 2:26,973,416...27,009,628
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,079,336...27,108,981
Ensembl chr 2:27,079,379...27,108,981
JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,698,275...28,813,165
Ensembl chr 2:28,700,164...28,813,165
JBrowse link
G Barhl1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,907,680...28,917,984
Ensembl chr 2:28,907,679...28,916,668
JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,445,576...27,507,657
Ensembl chr 2:27,445,579...27,507,662
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 2:27,009,855...27,021,090
Ensembl chr 2:27,009,926...27,021,089
JBrowse link
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 6:4,600,911...4,643,355
Ensembl chr 6:4,600,839...4,643,355
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,555,819...28,563,403
Ensembl chr 2:28,555,795...28,563,403
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 2:28,955,481...29,055,066
Ensembl chr 2:28,926,949...29,055,066
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:10739762, PMID:17211858, PMID:23587214, PMID:25597651, PMID:25741868, PMID:28102596, PMID:28492532, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 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:458828, PMID:1978725, PMID:1990009, PMID:2010058, PMID:2454224, PMID:2824475, PMID:2985635, PMID:2993307, PMID:3372533, PMID:3680255, PMID:6092353, PMID:6773953, PMID:7693712, PMID:7695699, PMID:7749416, PMID:7860070, PMID:7891382, PMID:8071956, PMID:8081389, PMID:8094076, PMID:8218237, PMID:8829649, PMID:9016532, PMID:9099837, PMID:9272740, PMID:9295084, PMID:9399846, PMID:9557891, 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:18028452, PMID:18311573, PMID:18996919, PMID:19344236, PMID:19594296, PMID:21344539, PMID:21520333, PMID:21667357, PMID:21801164, PMID:21912751, PMID:22206639, PMID:22589248, PMID:22753364, PMID:23548243, PMID:23692737, PMID:23934635, PMID:24033266, PMID:24140640, 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:28625337, PMID:28725987, PMID:28810924, PMID:28916840, PMID:29595812, PMID:29807018, PMID:30311386, PMID:30715774 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO
IEA
ClinVar Annotator: match by OMIM:130000
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
MouseDO
CTD
PMID:7695699, PMID:8218237, PMID:8575750, PMID:8752669, PMID:8923000, PMID:8950675, PMID:9042913, PMID:9683580, PMID:10471441, PMID:10602121, PMID:10777716, PMID:10796876, PMID:10946364, PMID:11992482, PMID:12145749, PMID:15264295, PMID:15580559, PMID:19019335, PMID:19344236, PMID:19370768, PMID:20635400, PMID:20979576, PMID:22696272, PMID:23587214, PMID:24033266, PMID:24088041, PMID:24685354, PMID:24951259, PMID:25741868, PMID:26188975, PMID:26608033, PMID:26633545, PMID:26854089, PMID:27011056, PMID:28454995, PMID:28485813, PMID:28492532, PMID:28550590, PMID:28714197, PMID:28750028, PMID:29924831, PMID:30311386, PMID:30858776, PMID:31064749, PMID:32581362, PMID:32720758 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO
IEA
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
OMIM:130000
ClinVar
MouseDO
PMID:2855059, PMID:7695699, PMID:8168810, PMID:8218237, PMID:9425231, PMID:9783710, PMID:11006503, PMID:11940702, PMID:15580559, PMID:19344236, PMID:20301422, PMID:22696272, PMID:23587214, PMID:25741868, PMID:28132693, PMID:28492532, PMID:28550590, PMID:28991257, PMID:30311386 NCBI chr 1:45,374,331...45,503,282
Ensembl chr 1:45,374,321...45,503,282
JBrowse link
G Dbh dopamine beta hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,165,507...27,183,204
Ensembl chr 2:27,165,233...27,183,200
JBrowse link
G Ddx31 DEAD/H box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,840,406...28,905,575
Ensembl chr 2:28,840,406...28,905,571
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 2:27,110,379...27,142,477
Ensembl chr 2:27,110,380...27,142,491
JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,076,479...28,084,910
Ensembl chr 2:28,076,378...28,084,885
JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,479,354...28,506,030
Ensembl chr 2:28,496,891...28,505,415
JBrowse link
G Gfi1b growth factor independent 1B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,609,450...28,621,982
Ensembl chr 2:28,609,450...28,621,982
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 2:25,783,462...25,815,896
Ensembl chr 2:25,793,859...25,815,848
JBrowse link
G Gm25541 predicted gene, 25541 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,539,805...27,539,930
Ensembl chr 2:27,539,805...27,539,930
JBrowse link
G Gtf3c4 general transcription factor IIIC, polypeptide 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,822,299...28,840,360
Ensembl chr 2:28,822,299...28,840,360
JBrowse link
G Gtf3c5 general transcription factor IIIC, polypeptide 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,566,245...28,583,279
Ensembl chr 2:28,566,311...28,583,751
JBrowse link
G Kcnt1 potassium channel, subfamily T, member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:25,863,791...25,918,273
Ensembl chr 2:25,863,734...25,918,273
JBrowse link
G Lcn11 lipocalin 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:25,777,017...25,780,279
Ensembl chr 2:25,777,017...25,780,279
JBrowse link
G Lcn3 lipocalin 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:25,765,533...25,768,098
Ensembl chr 2:25,765,569...25,768,099
JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:25,823,088...25,825,546
Ensembl chr 2:25,823,153...25,825,537
JBrowse link
G Lum lumican IEA OMIM:130000 MouseDO NCBI chr10:97,565,501...97,572,703
Ensembl chr10:97,565,128...97,572,703
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:101,274,091...101,298,934
Ensembl chr  X:101,274,030...101,297,465
JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,905,267...26,910,642
Ensembl chr 2:26,905,262...26,910,677
JBrowse link
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:29,346,810...29,524,790
Ensembl chr 2:29,346,819...29,524,793
JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,465,951...28,471,177
Ensembl chr 2:28,468,066...28,471,178
JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 NCBI chr16:14,194,527...14,292,188
Ensembl chr16:14,194,535...14,291,372
JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,061,636...27,072,161
Ensembl chr 2:27,061,636...27,072,179
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:29,194,726...29,248,099
Ensembl chr 2:29,194,541...29,253,005
JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:25,697,577...25,703,326
Ensembl chr 2:25,700,043...25,703,326
JBrowse link
G Obp2b odorant binding protein 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:25,714,109...25,740,124
Ensembl chr 2:25,737,009...25,740,097
JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,193,093...28,230,736
Ensembl chr 2:28,192,992...28,230,736
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:32,236,590...32,255,005
Ensembl chr 2:32,236,590...32,255,005
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 2:28,446,493...28,455,508
Ensembl chr 2:28,446,800...28,455,508
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 2:28,513,089...28,553,082
Ensembl chr 2:28,513,125...28,553,081
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor (GEF) 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:29,619,720...29,740,364
Ensembl chr 2:29,619,720...29,740,978
JBrowse link
G Rexo4 REX4, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,953,559...26,964,386
Ensembl chr 2:26,953,563...26,964,386
JBrowse link
G Rpl7a ribosomal protein L7A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,910,685...26,913,312
Ensembl chr 2:26,910,764...26,913,318
JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,676,445...27,763,319
Ensembl chr 2:27,676,440...27,762,957
JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,188,393...27,248,332
Ensembl chr 2:27,188,393...27,248,337
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:29,123,588...29,182,471
Ensembl chr 2:29,124,181...29,182,471
JBrowse link
G Sgce sarcoglycan, epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 6:4,674,350...4,747,204
Ensembl chr 6:4,674,350...4,747,207
JBrowse link
G Slc2a10 solute carrier family 2 (facilitated glucose transporter), member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr 2:165,503,897...165,519,917
Ensembl chr 2:165,503,787...165,519,917
JBrowse link
G Slc2a6 solute carrier family 2 (facilitated glucose transporter), member 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,021,363...27,028,000
Ensembl chr 2:27,021,363...27,027,998
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 2:25,842,995...25,847,248
Ensembl chr 2:25,842,995...25,847,248
JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,692,080...28,699,651
Ensembl chr 2:28,692,080...28,699,727
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 2:26,933,521...26,953,496
Ensembl chr 2:26,934,047...26,953,496
JBrowse link
G Surf1 surfeit gene 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,913,378...26,916,610
Ensembl chr 2:26,913,381...26,916,530
JBrowse link
G Surf2 surfeit gene 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,916,372...26,920,187
Ensembl chr 2:26,916,367...26,920,183
JBrowse link
G Surf4 surfeit gene 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,920,041...26,933,776
Ensembl chr 2:26,920,040...26,933,928
JBrowse link
G Surf6 surfeit gene 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:26,890,418...26,902,887
Ensembl chr 2:26,888,628...26,902,879
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:30675029 NCBI chr 4:47,353,222...47,414,926
Ensembl chr 4:47,353,222...47,414,931
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:28,640,993...28,691,172
Ensembl chr 2:28,641,228...28,691,167
JBrowse link
G Ttf1 transcription termination factor, RNA polymerase I ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:29,060,199...29,087,656
Ensembl chr 2:29,060,262...29,087,656
JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:32,255,002...32,260,105
Ensembl chr 2:32,255,002...32,260,159
JBrowse link
G Vav2 vav 2 oncogene ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,262,104...27,427,608
Ensembl chr 2:27,262,104...27,427,033
JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 2:27,515,147...27,536,535
Ensembl chr 2:27,515,157...27,536,535
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 Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:10739762, PMID:17211858, PMID:23587214, PMID:25597651, PMID:25741868, PMID:28102596, PMID:28492532, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:2993307, PMID:3372533, PMID:6092353, PMID:7695699, PMID:7860070, PMID:8094076, PMID:8218237, PMID:8829649, PMID:9016532, PMID:9272740, PMID:9594376, PMID:11288717, PMID:15077201, PMID:15241796, PMID:16705691, PMID:16816023, PMID:17078022, PMID:19344236, PMID:21520333, PMID:21667357, PMID:22206639, PMID:22589248, PMID:23692737, PMID:24501682, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26138843, PMID:26177859, PMID:26604951, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28492532, PMID:28498836, PMID:28810924, PMID:29595812, PMID:30311386 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2
CTD
ClinVar
PMID:7695699, PMID:8218237, PMID:8752669, PMID:9042913, PMID:10471441, PMID:10602121, PMID:10946364, PMID:11992482, PMID:15580559, PMID:19019335, PMID:19344236, PMID:19370768, PMID:20635400, PMID:20979576, PMID:22696272, PMID:23587214, PMID:24033266, PMID:24951259, PMID:25741868, PMID:26608033, PMID:26854089, PMID:28454995, PMID:28492532, PMID:28550590, PMID:29924831, PMID:30311386, PMID:30858776, PMID:31064749 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Col5a2 collagen, type V, alpha 2 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:25741868, PMID:28132693, PMID:28492532, PMID:28550590, PMID:30311386 NCBI chr 1:45,374,331...45,503,282
Ensembl chr 1:45,374,321...45,503,282
JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:25741868 NCBI chr16:14,194,527...14,292,188
Ensembl chr16:14,194,535...14,291,372
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-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:23284009, PMID:23768946, PMID:24033266, PMID:24088041, PMID:25741868, PMID:26075496, PMID:26633545, PMID:28344932 NCBI chr17:34,660,453...34,719,815
Ensembl chr17:34,660,457...34,719,815
JBrowse link
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 chr11:5,861,866...5,872,248
Ensembl chr11:5,861,947...5,872,088
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 a disintegrin-like and metallopeptidase (reprolysin type) 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:10417273, PMID:15373769, PMID:15389701, PMID:18973246, PMID:23495203, PMID:25741868, PMID:26765342, PMID:28492532, PMID:15373769 RGD:1598738 NCBI chr11:50,602,085...50,807,573
Ensembl chr11:50,602,084...50,807,573
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 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:28492532, PMID:7833919 RGD:11041770 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar NCBI chr 2:26,457,902...26,503,822
Ensembl chr 2:26,457,903...26,516,663
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637 NCBI chr17:34,660,453...34,719,815
Ensembl chr17:34,660,457...34,719,815
JBrowse link
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 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
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:9617436, PMID:9893157, PMID:10329027, PMID:10874315, PMID:11001813, PMID:14565595, PMID:15666309, PMID:15979919, PMID:16758144, PMID:19320026, PMID:21699693, PMID:22001912, PMID:25277362, PMID:25326635, PMID:25637337, PMID:25741868, PMID:28384719, PMID:28492532 NCBI chr 4:147,909,753...147,936,776
Ensembl chr 4:147,909,753...147,936,767
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 FK506 binding protein 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:22265013, PMID:24677762, PMID:24773188, PMID:25741868, PMID:27149304, PMID:28492532, PMID:28617417, PMID:30311386, PMID:31132235 NCBI chr 6:54,577,602...54,597,344
Ensembl chr 6:54,577,604...54,597,308
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 2:118,926,497...118,928,585
Ensembl chr 2:118,926,496...118,928,585
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:28492532 NCBI chr10:34,151,389...34,208,282
Ensembl chr10:34,151,393...34,207,715
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 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:155,989,466...155,992,678
Ensembl chr 4:155,989,466...155,992,649
JBrowse link
G B4galt7 xylosylprotein beta1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) ISO OMIM NCBI chr13:55,599,896...55,610,443
Ensembl chr13:55,599,896...55,610,443
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 9430015G10Rik RIKEN cDNA 9430015G10 gene ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 4:156,109,998...156,127,265
Ensembl chr 4:156,109,982...156,127,265
JBrowse link
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 4:155,891,875...155,907,251
Ensembl chr 4:155,891,822...155,907,251
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 4:156,165,290...156,197,533
Ensembl chr 4:156,165,290...156,197,488
JBrowse link
G B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar
OMIM
PMID:19492091, PMID:23664117, PMID:25149931, PMID:25741868, PMID:27023906, PMID:28492532, PMID:29443383, PMID:29620724, PMID:29931299 NCBI chr 4:155,989,466...155,992,678
Ensembl chr 4:155,989,466...155,992,649
JBrowse link
G B4galt7 xylosylprotein beta1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) ISO ClinVar Annotator: match by OMIM:130070
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES
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 chr13:55,599,896...55,610,443
Ensembl chr13:55,599,896...55,610,443
JBrowse link
G C1qtnf12 C1q and tumor necrosis factor related 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 4:155,962,312...155,966,629
Ensembl chr 4:155,962,318...155,966,629
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 4:155,869,547...155,889,103
Ensembl chr 4:155,869,546...155,889,103
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 4:156,199,424...156,200,818
Ensembl chr 4:156,199,455...156,200,796
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 4:156,054,896...156,054,985
Ensembl chr 4:156,054,896...156,054,985
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 4:156,055,681...156,055,750
Ensembl chr 4:156,055,681...156,055,750
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 4:156,053,905...156,053,987
Ensembl chr 4:156,053,905...156,053,987
JBrowse link
G Pusl1 pseudouridylate synthase-like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 4:155,888,857...155,891,858
Ensembl chr 4:155,887,879...155,891,781
JBrowse link
G Rnf223 ring finger 223 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 4:156,130,515...156,133,417
Ensembl chr 4:156,130,513...156,133,420
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 4:155,992,843...156,013,610
Ensembl chr 4:155,992,872...156,013,610
JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 4:156,026,322...156,028,894
Ensembl chr 4:156,026,164...156,028,895
JBrowse link
G Tnfrsf4 tumor necrosis factor receptor superfamily, member 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 4:156,013,595...156,016,613
Ensembl chr 4:156,013,843...156,016,612
JBrowse link
G Ttll10 tubulin tyrosine ligase-like family, member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 4:156,034,835...156,050,817
Ensembl chr 4:156,034,840...156,059,414
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2J 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091, PMID:28492532 NCBI chr 4:155,943,813...155,959,604
Ensembl chr 4:155,943,831...155,959,604
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 (metal ion transporter), 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 2:91,061,781...91,070,441
Ensembl chr 2:91,061,791...91,070,417
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 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:7833919, 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:9546243, PMID:9557891, PMID:9712532, 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:17728513, PMID:18043893, PMID:18272325, PMID:19011090, PMID:19248182, PMID:19344236, PMID:19424605, PMID:19455184, 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:23688910, PMID:24033266, PMID:24036952, PMID:24055113, PMID:24399159, PMID:24922459, 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:26497932, PMID:26666608, PMID:26854089, PMID:27011056, PMID:27153395, PMID:27168972, PMID:27306637, PMID:27611364, PMID:27888582, PMID:27964749, PMID:28258187, PMID:28349240, PMID:28492532, PMID:28655553, PMID:28742248, PMID:28748566, PMID:29216800, PMID:29543232, PMID:29778910, PMID:30115950, PMID:30122538, PMID:30311386, PMID:30374176, PMID:30379966, PMID:30675029, PMID:30793832, PMID:30919682, PMID:31719132 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054, PMID:28492532 NCBI chr 1:45,374,331...45,503,282
Ensembl chr 1:45,374,321...45,503,282
JBrowse link
G Slc40a1 solute carrier family 40 (iron-regulated transporter), member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054, PMID:28492532 NCBI chr 1:45,908,070...45,926,532
Ensembl chr 1:45,908,068...45,926,523
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 1:45,795,153...45,823,638
Ensembl chr 1:45,795,166...45,823,619
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 chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:1867198, PMID:2037280, PMID:2767050, PMID:3082886, PMID:6462220, PMID:6876111, PMID:7691343, PMID:7695699, PMID:7942841, PMID:8079666, PMID:8218237, PMID:8408653, PMID:8613526, PMID:8669434, PMID:8808594, PMID:9016532, PMID:9067755, PMID:9295084, PMID:9443882, PMID:10073586, PMID:10739762, PMID:10931857, PMID:11090261, PMID:11317364, PMID:11432962, PMID:12590186, PMID:13431894, 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:20087402, PMID:20696291, PMID:21249479, PMID:21344539, PMID:21567126, PMID:21667357, PMID:21801164, PMID:21884818, PMID:22174522, PMID:22570641, PMID:22589248, PMID:22753364, PMID:23047998, PMID:23522764, PMID:23735642, PMID:24147872, PMID:24389367, PMID:24390061, PMID:24668929, PMID:24715559, PMID:24891183, PMID:24964776, 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:27748872, PMID:28378289, PMID:28492532, PMID:28668235, PMID:29543232, PMID:29946973 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:25441681 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1rb complement component 1, r subcomponent B ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE
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 6:124,570,430...124,581,044
Ensembl chr 6:124,570,294...124,581,171
JBrowse link
G C1s2 complement component 1, s subcomponent 2 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE ClinVar PMID:27745832 NCBI chr 6:124,624,625...124,636,085
Ensembl chr 6:124,624,625...124,636,085
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 C1rb complement component 1, r subcomponent B 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 6:124,570,430...124,581,044
Ensembl chr 6:124,570,294...124,581,171
JBrowse link
G C1s2 complement component 1, s subcomponent 2 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 6:124,624,625...124,636,085
Ensembl chr 6:124,624,625...124,636,085
JBrowse link
epidermolysis bullosa dystrophica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen, type VII, alpha 1 susceptibility ISO DNA:insertion-deletion
ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis Bullosa Dystrophica
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR
ClinVar Annotator: match by term: Hallopeau-Siemens Disease
ClinVar Annotator: match by OMIM:226600
ClinVar
OMIM
PMID:3771648, PMID:7577595, PMID:7833933, PMID:8755915, PMID:9242516, PMID:9326325, PMID:9668111, PMID:9740253, PMID:9804332, PMID:10084325, PMID:10408773, PMID:10469344, PMID:10504458, PMID:10944088, PMID:11781296, PMID:11843659, PMID:12485454, PMID:12653705, PMID:12787275, PMID:12813757, PMID:15550148, PMID:15816848, PMID:15888141, PMID:16271705, PMID:16439963, PMID:16484981, PMID:16500083, PMID:16971478, PMID:17425959, PMID:17501948, PMID:17916216, PMID:18414213, PMID:18440202, PMID:18558993, PMID:18565177, PMID:18951764, PMID:19026465, PMID:19439919, PMID:19681861, PMID:19814614, PMID:20184583, PMID:20357813, PMID:20507384, PMID:20585476, PMID:20598510, PMID:21448560, PMID:21471992, PMID:22070715, PMID:22266148, PMID:23237810, PMID:24032424, PMID:24033266, PMID:24210835, PMID:24279917, PMID:24831336, PMID:24947307, PMID:25155989, PMID:25525159, PMID:25741868, PMID:25819062, PMID:26064063, PMID:26076072, PMID:26102279, PMID:26763448, PMID:27153395, PMID:27544590, PMID:27899325, PMID:28492532, PMID:28853495, PMID:29130490, PMID:30311386, PMID:8275094 RGD:1600946 NCBI chr 9:108,953,586...108,984,875
Ensembl chr 9:108,953,586...108,984,875
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human) OMIM PMID:18030675 RGD:8549728 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by null ClinVar PMID:8755915, PMID:9804332, PMID:16965329 NCBI chr 9:108,953,586...108,984,875
Ensembl chr 9:108,953,586...108,984,875
JBrowse link
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant
OMIM
ClinVar
PMID:8755915, PMID:9182828, PMID:9242516, PMID:9718359, PMID:9856844, PMID:9881948, PMID:10383749, PMID:10408773, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16965329, PMID:16971478, PMID:17434045, PMID:19681861, PMID:20598510, PMID:21448560, PMID:22266148, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:108,953,586...108,984,875
Ensembl chr 9:108,953,586...108,984,875
JBrowse link
epidermolysis bullosa with congenital localized absence of skin and deformity of nails term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE OMIM
ClinVar
PMID:3771648, PMID:5910871, PMID:8618021, PMID:8755915, PMID:10408773, PMID:11781296, PMID:11843659, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19026465, PMID:19681861, PMID:20507384, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:26064063, PMID:28492532, PMID:30311386 NCBI chr 9:108,953,586...108,984,875
Ensembl chr 9:108,953,586...108,984,875
JBrowse link
Familial Cutaneous Collagenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO DNA:transition mutation:intron: 1522+1G>A(human) RGD PMID:17223882 RGD:11553841 NCBI chr10:120,923,411...120,979,396
Ensembl chr10:120,923,413...120,979,332
JBrowse link
gnathodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia
ClinVar Annotator: match by term: Osteogenesis imperfecta Levin type
DNA:missense mutations:exon:p.C356R, p.C356G (human)
DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)
ClinVar Annotator: match by OMIM:166260
OMIM
ClinVar
PMID:5816667, PMID:9673985, PMID:15124103, PMID:17008331, PMID:17132147, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23047743, PMID:23530687, PMID:23606453, PMID:23607914, PMID:23663589, PMID:23670307, PMID:23757202, PMID:24022920, PMID:24033266, PMID:24232312, PMID:24239059, PMID:24803842, PMID:24843231, PMID:25046369, PMID:25135358, PMID:25326637, PMID:25741868, PMID:25864073, PMID:25891276, PMID:26404900, PMID:26467025, PMID:26810512, PMID:26838040, PMID:26886200, PMID:26911675, PMID:27708273, PMID:27854218, PMID:27862037, PMID:27884173, PMID:27911336, PMID:28492532, PMID:28888072, PMID:29124309, PMID:29382405, PMID:30311386, PMID:30564623, PMID:30919934, PMID:31395899, PMID:15124103, PMID:23047743 RGD:11570566, RGD:11570556 NCBI chr 7:51,510,007...51,598,707
Ensembl chr 7:51,511,029...51,598,709
JBrowse link
Keloid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt2 actin-related protein T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:154,666,428...154,667,867
Ensembl chr 4:154,666,433...154,667,867
JBrowse link
G Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr 8:18,846,279...18,884,413
Ensembl chr 8:18,846,277...18,891,361
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Arhgdia Rho GDP dissociation inhibitor (GDI) alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr11:120,578,099...120,581,624
Ensembl chr11:120,578,104...120,581,624
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr 8:41,340,646...41,397,644
Ensembl chr 8:41,340,197...41,374,773
JBrowse link
G Aspn asporin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr13:49,544,443...49,567,565
Ensembl chr13:49,544,443...49,567,565
JBrowse link
G Capg capping protein (actin filament), gelsolin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 6:72,538,282...72,562,983
Ensembl chr 6:72,544,391...72,562,983
JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:35,050,243...35,058,719
Ensembl chr17:35,049,966...35,058,749
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Crabp1 cellular retinoic acid binding protein I ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:54,764,748...54,773,110
Ensembl chr 9:54,764,748...54,773,110
JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr11:69,916,712...69,921,958
Ensembl chr11:69,916,714...69,921,958
JBrowse link
G Fgg fibrinogen gamma chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:83,007,724...83,015,056
Ensembl chr 3:83,007,724...83,015,049
JBrowse link
G Foxl2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr 9:98,955,607...98,958,126
Ensembl chr 9:98,955,288...98,958,543
JBrowse link
G Fth1 ferritin heavy polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr19:9,980,600...9,985,111
Ensembl chr19:9,980,598...9,985,098
JBrowse link
G Ftl1 ferritin light polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 7:45,457,944...45,459,886
Ensembl chr 7:45,457,944...45,459,884
JBrowse link
G Hbb-bt hemoglobin, beta adult t chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 7:103,812,524...103,813,923
Ensembl chr 7:103,812,524...103,813,996
JBrowse link
G Lgals1 lectin, galactose binding, soluble 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr15:78,926,725...78,930,465
Ensembl chr15:78,926,725...78,930,465
JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:75,859,353...75,860,277
Ensembl chr10:75,859,353...75,860,240
JBrowse link
G Mydgf myeloid derived growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:56,176,541...56,183,920
Ensembl chr17:56,175,744...56,183,920
JBrowse link
G Myl6b myosin, light polypeptide 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:128,494,157...128,498,685
Ensembl chr10:128,494,157...128,498,685
JBrowse link
G Nedd4 neural precursor cell expressed, developmentally down-regulated 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr 9:72,662,331...72,749,851
Ensembl chr 9:72,662,346...72,749,852
JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:30311386 NCBI chr 2:25,054,361...25,062,881
Ensembl chr 2:25,054,355...25,062,881
JBrowse link
G Pfn1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr11:70,651,844...70,656,799
Ensembl chr11:70,651,850...70,654,644
JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:116,685,599...116,700,000
Ensembl chr 4:116,685,544...116,700,822
JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 8:84,969,622...84,974,811
Ensembl chr 8:84,969,587...84,974,834
JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:129,020,156...129,024,322
Ensembl chr 5:129,020,069...129,024,323
JBrowse link
G S100a10 S100 calcium binding protein A10 (calpactin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:93,555,117...93,564,645
Ensembl chr 3:93,555,080...93,564,643
JBrowse link
G S100a4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:90,603,770...90,606,045
Ensembl chr 3:90,603,771...90,606,045
JBrowse link
G S100a8 S100 calcium binding protein A8 (calgranulin A) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:90,669,071...90,670,034
Ensembl chr 3:90,668,978...90,670,035
JBrowse link
G S100a9 S100 calcium binding protein A9 (calgranulin B) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:90,692,630...90,695,721
Ensembl chr 3:90,692,632...90,695,721
JBrowse link
G Serpinb5 serine (or cysteine) peptidase inhibitor, clade B, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:106,861,175...106,883,348
Ensembl chr 1:106,861,173...106,883,348
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:skin of body (human)
CTD PMID:20128793, PMID:20128793 RGD:27226709 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:133,600,556...133,602,168
Ensembl chr 4:133,600,556...133,602,168
JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:45,929,628...45,936,058
Ensembl chr 9:45,929,619...45,936,058
JBrowse link
G Tpm1 tropomyosin 1, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:67,022,590...67,049,672
Ensembl chr 9:67,022,590...67,049,406
JBrowse link
G Tpsb2 tryptase beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:25,366,308...25,368,096
Ensembl chr17:25,366,305...25,369,098
JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Kniest dysplasia
ClinVar Annotator: match by OMIM:156550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4014370, PMID:4214536, PMID:7752132, PMID:7849719, PMID:7874117, PMID:7981752, PMID:8325895, PMID:9066888, PMID:9101290, PMID:9468540, PMID:10406661, PMID:11297324, PMID:12995812, PMID:23188137, PMID:25741868, PMID:28492532 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
limited scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1, caveolae protein susceptibility
no_association
ISO DNA:SNPs:enhancer, intron:multiple
DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)
RGD PMID:22402147, PMID:22402147 RGD:8661768, RGD:8661768 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 IMP
IEP
mRNA,protein:increased expression:skin: RGD PMID:12925209, PMID:12925209 RGD:8661733, RGD:8661733 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 IEP mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) IMP RGD PMID:17102953 RGD:12903974 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) IMP RGD PMID:17102953 RGD:12903974 NCBI chr 1:161,780,691...161,788,495
Ensembl chr 1:161,780,689...161,788,495
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chr19:29,251,803...29,313,095
Ensembl chr19:29,251,828...29,313,080
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr12:85,166,637...85,177,785
Ensembl chr12:85,166,635...85,177,790
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 IEP mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Stat4 signal transducer and activator of transcription 4 no_association
susceptibility
ISO DNA:SNPs:introns: (rs10168266, rs3821236) (human)
DNA:SNP:intron: (rs7574865) (human)
RGD PMID:23755762, PMID:23755762, PMID:19286670 RGD:8661701, RGD:8661701, RGD:8661714 NCBI chr 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr17:34,204,479...34,216,321
Ensembl chr17:34,203,527...34,216,321
JBrowse link
Lipodermatosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO mRNA:increased expression:dermis RGD PMID:15727634 RGD:5688298 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
localized scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) IEP mRNA,protein:increased expression:skin: RGD PMID:15803328 RGD:8662838 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:15863969 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:14712301 RGD:8548627 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7916356 RGD:8158116 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12920362 RGD:8549537 NCBI chr11:53,631,323...53,634,702
Ensembl chr11:53,631,324...53,634,702
JBrowse link
G Lmna lamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO RGD PMID:9804345 RGD:1582543 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:7510487 RGD:7394847 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843018 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
mixed connective tissue disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas (TNF receptor superfamily member 6) ISO protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphism:cds:HLA-DRB1*04 (human) RGD PMID:12559632 RGD:5147801 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Snrpb small nuclear ribonucleoprotein B ISO RGD PMID:2968364 RGD:10448928 NCBI chr 2:130,171,636...130,179,382
Ensembl chr 2:130,171,414...130,179,403
JBrowse link
G Snrpc U1 small nuclear ribonucleoprotein C ISO associated with Hypertension, Pulmonary RGD PMID:10555891 RGD:10766447 NCBI chr17:27,840,028...27,851,968
Ensembl chr17:27,838,150...27,851,968
JBrowse link
G Tlr3 toll-like receptor 3 IMP RGD PMID:16453294 RGD:5129221 NCBI chr 8:45,395,665...45,411,075
Ensembl chr 8:45,395,665...45,411,080
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO
IAGP
ClinVar Annotator: match by term: Occipital horn syndrome
ClinVar Annotator: match by term: Cutis laxa, X-linked
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:28492532, PMID:7887410, PMID:9467005 RGD:11340205, RGD:11252184 NCBI chr  X:106,027,224...106,128,161
Ensembl chr  X:106,027,276...106,124,926
JBrowse link
OI/EDS Combined Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by null ClinVar PMID:15728585, PMID:16407265 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
osteogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266, PMID:25741868 NCBI chr14:70,474,555...70,520,716
Ensembl chr14:70,474,558...70,520,234
JBrowse link
G Col1a1 collagen, type I, alpha 1 severity ISO
IEA
IAGP
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Lobstein's Disease
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
DNA:mutation:splice junction:c.1875+1G>A (IVS 27+1G>A)(human)
DNA:mutations:exons: c.97G > A,c.1209T > A,c.3702C > T(human)
DNA:deletion: :
DNA:mutation:exon:c.3235G>A(p.G1079S)(human)
DNA:transition mutation:splice junction:
DNA:transversion mutation:intron:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:166200
DNA:snp:intron:c.3207+1G>A (human)
ClinVar
MouseDO
CTD
PMID:1137656, PMID:2037280, PMID:3722186, PMID:6876111, PMID:7691343, PMID:7695699, PMID:7942841, PMID:8079666, PMID:8218237, PMID:8408653, PMID:8613526, PMID:8669434, PMID:8757037, PMID:8808594, PMID:9016532, PMID:9067755, PMID:9101304, PMID:9295084, PMID:9443882, PMID:10073586, PMID:10739762, PMID:10931857, PMID:11090261, PMID:11113887, PMID:11317364, PMID:11432962, PMID:12590186, PMID:13431894, PMID:15024692, PMID:15024745, PMID:15241796, PMID:15741671, PMID:15864348, PMID:15931785, PMID:16705691, PMID:16786509, PMID:16879195, PMID:17078022, PMID:17211858, PMID:17309652, PMID:17392686, PMID:18028452, PMID:18272325, PMID:18412368, PMID:18553566, PMID:18670065, PMID:18704262, PMID:18996919, PMID:19344236, PMID:19358256, PMID:19550437, PMID:19751715, PMID:20087402, PMID:20696291, PMID:21249479, PMID:21344539, PMID:21567126, PMID:21667357, PMID:21801164, PMID:21884818, PMID:22174522, PMID:22570641, PMID:22589248, PMID:22753364, PMID:23047998, PMID:23522764, PMID:23587214, PMID:23735642, PMID:24147872, PMID:24389367, PMID:24390061, PMID:24668929, PMID:24715559, PMID:24891183, PMID:24964776, PMID:25086671, PMID:25146735, PMID:25525159, PMID:25597651, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26188975, PMID:26235824, PMID:26467025, PMID:26627451, PMID:26633542, PMID:26712438, PMID:27044453, PMID:27059743, PMID:27060301, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28102596, PMID:28116328, PMID:28378289, PMID:28492532, PMID:28668235, PMID:29150909, PMID:29543232, PMID:29946973, PMID:30311386, PMID:31319225, PMID:9448299, PMID:18755172, PMID:21341209, PMID:21113976, PMID:23079818, PMID:24443344, PMID:18248096, PMID:22565191 RGD:734802, RGD:11667068, RGD:11667066, RGD:11667065, RGD:11571620, RGD:11571617, RGD:11571614, RGD:8552657 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO
IEA
IAGP
DNA:snp:cds:p.G328S (human)
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein's Disease
DNA:mutation:exon:c.87T > C(human)
ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
DNA:mutations, haplotype (human)
DNA:deletion:exon:3983del (mouse)
ClinVar
MouseDO
PMID:458828, PMID:1978725, PMID:2010058, PMID:2824475, PMID:2985635, PMID:2993307, PMID:3372533, PMID:3403536, PMID:6092353, PMID:7695699, PMID:7860070, PMID:8071956, PMID:8094076, PMID:8218237, PMID:8456808, PMID:8829649, PMID:9016532, PMID:9272740, PMID:9295084, PMID:9399846, PMID:9557891, PMID:9594376, PMID:9923651, PMID:10976985, PMID:11288717, PMID:11317364, PMID:15077201, PMID:15172002, PMID:15241796, PMID:16705691, PMID:16816023, PMID:17078022, PMID:18028452, PMID:18272325, PMID:18311573, PMID:18996919, PMID:19344236, PMID:21344539, PMID:21520333, PMID:21667357, PMID:21801164, PMID:21884818, PMID:21912751, PMID:22206639, PMID:22589248, PMID:23692737, PMID:24033266, PMID:24140640, PMID:24501682, PMID:24668929, PMID:24767406, PMID:25326637, PMID:25450603, PMID:25633413, PMID:25741868, PMID:25835785, PMID:25944380, PMID:26138843, PMID:26177859, PMID:26432670, PMID:26467025, PMID:26604951, PMID:27056980, PMID:27146342, PMID:27509835, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28378289, PMID:28396251, PMID:28492532, PMID:28498836, PMID:28625337, PMID:28810924, PMID:28916840, PMID:29595812, PMID:30311386, PMID:16705691, PMID:21341209, PMID:2567784, PMID:8446583 RGD:1581197, RGD:11667066, RGD:734804, RGD:7248772 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Crtap cartilage associated protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
CTD
ClinVar
PMID:18566967 NCBI chr 9:114,375,131...114,390,712
Ensembl chr 9:114,375,134...114,390,675
JBrowse link
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 treatment IMP RGD PMID:24677211 RGD:12792279 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564
JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta
CTD
ClinVar
PMID:18566967, PMID:24498616, PMID:25741868, PMID:26634552, PMID:28492532, PMID:31319225 NCBI chr 4:119,232,915...119,248,977
Ensembl chr 4:119,232,915...119,248,975
JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar NCBI chr 9:66,060,169...66,066,629
Ensembl chr 9:66,060,222...66,066,623
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar PMID:25741868 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Serpinh1 serine (or cysteine) peptidase inhibitor, clade H, member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr 7:99,345,375...99,353,239
Ensembl chr 7:99,345,376...99,353,239
JBrowse link
G Sftpc surfactant associated protein C ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266, PMID:25741868 NCBI chr14:70,520,941...70,524,081
Ensembl chr14:70,520,949...70,524,081
JBrowse link
G Smad4 SMAD family member 4 IEA MouseDO NCBI chr18:73,634,790...73,703,791
Ensembl chr18:73,639,009...73,703,780
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3, neutral IEA MouseDO NCBI chr 8:106,252,548...106,337,965
Ensembl chr 8:106,252,548...106,337,988
JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar NCBI chr 9:66,065,174...66,069,759
Ensembl chr 9:66,065,176...66,069,719
JBrowse link
G Sp7 Sp7 transcription factor 7 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr15:102,356,603...102,367,035
Ensembl chr15:102,356,606...102,367,182
JBrowse link
G Sparc secreted acidic cysteine rich glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:1793673 NCBI chr11:55,394,159...55,420,080
Ensembl chr11:55,394,500...55,423,183
JBrowse link
G Wnt1 wingless-type MMTV integration site family, member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 NCBI chr15:98,789,857...98,793,830
Ensembl chr15:98,789,857...98,793,837
JBrowse link
osteogenesis imperfecta 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 IEA
ISO
OMIM:166200
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1, mild
MouseDO
ClinVar
OMIM
PMID:1445258, PMID:1634225, PMID:1737847, PMID:1988452, PMID:2035536, PMID:2037280, PMID:2295701, PMID:2542316, PMID:2794057, PMID:3016737, PMID:3403550, PMID:6876111, PMID:7487936, PMID:7691343, PMID:7695699, PMID:7789952, PMID:7881420, PMID:7942841, PMID:8079666, PMID:8094076, PMID:8125479, PMID:8218237, PMID:8349697, PMID:8408653, PMID:8456809, PMID:8613526, PMID:8669434, PMID:8757037, PMID:8808594, PMID:9016532, PMID:9067755, PMID:9101304, PMID:9295084, PMID:9443882, PMID:9600458, PMID:10073586, PMID:10408781, PMID:10739762, PMID:10931857, PMID:11090261, PMID:11113887, PMID:11317364, PMID:11432962, PMID:11826020, PMID:12590186, PMID:13431894, PMID:15024692, PMID:15024745, PMID:15235039, PMID:15241796, PMID:15728585, PMID:15741671, PMID:15864348, PMID:15931785, PMID:16705691, PMID:16786509, PMID:16879195, PMID:17078022, PMID:17206620, PMID:17211858, PMID:17309652, PMID:17392686, PMID:17875077, PMID:18028452, PMID:18272325, PMID:18311573, PMID:18412368, PMID:18553566, PMID:18670065, PMID:18704262, PMID:18798308, PMID:18845533, PMID:18996919, PMID:19199251, PMID:19344236, PMID:19358256, PMID:19491628, PMID:19550437, PMID:19637253, PMID:19751715, PMID:20087402, PMID:20696291, PMID:21249479, PMID:21344539, PMID:21520333, PMID:21567126, PMID:21594610, PMID:21667357, PMID:21801164, PMID:21884818, PMID:22174522, PMID:22206639, PMID:22565191, PMID:22570641, PMID:22589248, PMID:22753364, PMID:23047998, PMID:23054245, PMID:23079818, PMID:23265383, PMID:23522764, PMID:23529829, PMID:23587214, PMID:23692737, PMID:23735642, PMID:24088041, PMID:24147872, PMID:24273577, PMID:24389367, PMID:24390061, PMID:24486247, PMID:24501682, PMID:24668929, PMID:24715559, PMID:24891183, PMID:24964776, PMID:25086671, PMID:25146735, PMID:25324685, PMID:25436829, PMID:25525159, PMID:25597651, PMID:25696019, PMID:25741868, PMID:25944380, PMID:25963598, PMID:25983617, PMID:26138843, PMID:26177859, PMID:26188975, PMID:26235824, PMID:26264579, PMID:26467025, PMID:26604951, PMID:26627451, PMID:26633542, PMID:26633545, PMID:26712438, PMID:27011056, PMID:27044453, PMID:27059743, PMID:27060301, PMID:27090748, PMID:27132807, PMID:27335225, PMID:27380894, PMID:27484908, PMID:27509835, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28102596, PMID:28116328, PMID:28173822, PMID:28326186, PMID:28378289, PMID:28436160, PMID:28492532, PMID:28498836, PMID:28668235, PMID:28725987, PMID:28810924, PMID:29150909, PMID:29432813, PMID:29499418, PMID:29543232, PMID:29669177, PMID:29807018, PMID:29946973, PMID:30266093, PMID:30311386, PMID:30614853, PMID:30675999, PMID:32581362, PMID:32860008 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta
ClinVar PMID:2993307, PMID:3372533, PMID:6092353, PMID:7695699, PMID:7860070, PMID:8094076, PMID:8218237, PMID:8829649, PMID:9016532, PMID:9272740, PMID:9594376, PMID:11288717, PMID:11317364, PMID:15077201, PMID:15241796, PMID:16705691, PMID:16816023, PMID:16879195, PMID:17078022, PMID:19344236, PMID:21520333, PMID:21667357, PMID:22206639, PMID:22589248, PMID:22753364, PMID:23692737, PMID:24501682, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26138843, PMID:26177859, PMID:26604951, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28492532, PMID:28498836, PMID:28810924, PMID:29595812, PMID:30311386 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Itga3 integrin alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:95,044,475...95,076,844
Ensembl chr11:95,044,474...95,076,801
JBrowse link
G Pdk2 pyruvate dehydrogenase kinase, isoenzyme 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:95,026,258...95,041,371
Ensembl chr11:95,026,258...95,041,354
JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:94,991,212...95,006,898
Ensembl chr11:94,991,035...95,006,899
JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:95,009,395...95,026,087
Ensembl chr11:95,009,879...95,026,087
JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:94,962,777...94,976,327
Ensembl chr11:94,962,791...94,976,327
JBrowse link
osteogenesis imperfecta type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinh1 serine (or cysteine) peptidase inhibitor, clade H, member 1 ISO
IEA
ClinVar Annotator: match by term: Osteogenesis imperfecta type 10
ClinVar Annotator: match by term: OI, TYPE X
OMIM:613848
ClinVar Annotator: match by OMIM:613848
OMIM
ClinVar
MouseDO
PMID:20188343, PMID:25510505, PMID:25741868, PMID:28492532 NCBI chr 7:99,345,375...99,353,239
Ensembl chr 7:99,345,376...99,353,239
JBrowse link
osteogenesis imperfecta type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type XI
ClinVar Annotator: match by term: OI, TYPE XI
ClinVar Annotator: match by OMIM:610968
OMIM
ClinVar
PMID:20362275, PMID:20839288, PMID:21567934, PMID:25741868, PMID:27362741, PMID:28492532 NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
osteogenesis imperfecta type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by term: OI, TYPE XII
ClinVar Annotator: match by term: Osteogenesis imperfecta, type XII
ClinVar PMID:20362275, PMID:20839288, PMID:21567934, PMID:22107750, PMID:22949511, PMID:25741868 NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
G Sp7 Sp7 transcription factor 7 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 12
ClinVar Annotator: match by OMIM:613849
OMIM
ClinVar
PMID:20579626, PMID:29382611 NCBI chr15:102,356,603...102,367,035
Ensembl chr15:102,356,606...102,367,182
JBrowse link
osteogenesis imperfecta type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii
ClinVar Annotator: match by term: OI, TYPE XIII
ClinVar Annotator: match by OMIM:614856
OMIM
ClinVar
PMID:15542026, PMID:22052668, PMID:22482805, PMID:24648371, PMID:25214535, PMID:25402547, PMID:28492532 NCBI chr14:70,474,555...70,520,716
Ensembl chr14:70,474,558...70,520,234
JBrowse link
G Sftpc surfactant associated protein C ISO ClinVar Annotator: match by term: OI, TYPE XIII ClinVar NCBI chr14:70,520,941...70,524,081
Ensembl chr14:70,520,949...70,524,081
JBrowse link
osteogenesis imperfecta type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem38b transmembrane protein 38B ISO OMIM NCBI chr 4:53,825,988...53,862,019
Ensembl chr 4:53,826,045...53,862,019
JBrowse link
osteogenesis imperfecta type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt1 wingless-type MMTV integration site family, member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv
ClinVar Annotator: match by OMIM:615220
OMIM
ClinVar
PMID:23434763, PMID:23499309, PMID:23499310, PMID:25741868, PMID:29481978 NCBI chr15:98,789,857...98,793,830
Ensembl chr15:98,789,857...98,793,837
JBrowse link
G Wnt10b wingless-type MMTV integration site family, member 10B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv ClinVar PMID:25741868, PMID:29481978 NCBI chr15:98,770,712...98,778,206
Ensembl chr15:98,770,712...98,778,150
JBrowse link
osteogenesis imperfecta type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvi ClinVar
OMIM
PMID:25741868, PMID:29936144, PMID:30657919 NCBI chr 2:91,982,328...92,024,170
Ensembl chr 2:91,982,328...92,024,502
JBrowse link
osteogenesis imperfecta type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sparc secreted acidic cysteine rich glycoprotein ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvii OMIM
ClinVar
PMID:26027498 NCBI chr11:55,394,159...55,420,080
Ensembl chr11:55,394,500...55,423,183
JBrowse link
osteogenesis imperfecta type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tent5a terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XVIII ClinVar
OMIM
PMID:29358272 NCBI chr 9:85,320,439...85,327,150
Ensembl chr 9:85,320,439...85,327,348
JBrowse link
osteogenesis imperfecta type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XIX ClinVar
OMIM
PMID:27380894 NCBI chr  X:157,547,822...157,598,715
Ensembl chr  X:157,535,371...157,598,715
JBrowse link
osteogenesis imperfecta 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 ISO
IEA
ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II
OMIM:166210
ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone
ClinVar Annotator: match by OMIM:166210
OMIM
ClinVar
MouseDO
PMID:1511982, PMID:1613761, PMID:1864604, PMID:1874719, PMID:2035536, PMID:2037280, PMID:2121988, PMID:2220807, PMID:2298750, PMID:2309707, PMID:2339700, PMID:2500431, PMID:2794057, PMID:2894346, PMID:2913053, PMID:3016737, PMID:3108247, PMID:3198624, PMID:3403550, PMID:3667599, PMID:3722184, PMID:6702894, PMID:7695699, PMID:7816518, PMID:7881420, PMID:7942841, PMID:8097422, PMID:8100209, PMID:8100856, PMID:8218237, PMID:8364588, PMID:8408653, PMID:8613526, PMID:8669434, PMID:8808594, PMID:8950680, PMID:9016532, PMID:9067755, PMID:9143923, PMID:9295084, PMID:9443882, PMID:10931857, PMID:11317364, PMID:12538651, PMID:12590186, PMID:15024692, PMID:15024745, PMID:15741671, PMID:15864348, PMID:15931785, PMID:17078022, PMID:17309652, PMID:18412368, PMID:18553566, PMID:18704262, PMID:18996919, PMID:19344236, PMID:19358256, PMID:21249479, PMID:21567126, PMID:21667357, PMID:21834035, PMID:22589248, PMID:22753364, PMID:24390061, PMID:25086671, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26264579, PMID:26467025, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27748872, PMID:28116328, PMID:28378289, PMID:28492532, PMID:29432813, PMID:30266093, PMID:30311386, PMID:32860008 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
ClinVar Annotator: match by term: OI, TYPE II
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II
ClinVar Annotator: match by OMIM:166210
OMIM
ClinVar
PMID:1301191, PMID:1385413, PMID:1711048, PMID:1874719, PMID:2777764, PMID:2839839, PMID:2914942, PMID:3372533, PMID:7695699, PMID:7860070, PMID:7959683, PMID:8094076, PMID:8218237, PMID:9016532, PMID:9272740, PMID:9594376, PMID:9923651, PMID:16705691, PMID:17078022, PMID:19344236, PMID:21520333, PMID:22589248, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26604951, PMID:26938784, PMID:27519266, PMID:28492532, PMID:30311386 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3, neutral IEA OMIM:166210 MouseDO NCBI chr 8:106,252,548...106,337,965
Ensembl chr 8:106,252,548...106,337,988
JBrowse link
osteogenesis imperfecta type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XX OMIM
ClinVar
PMID:31564437 NCBI chr 7:83,883,866...83,900,311
Ensembl chr 7:83,884,466...83,901,532
JBrowse link
osteogenesis imperfecta type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
osteogenesis imperfecta type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr14:70,474,555...70,520,716
Ensembl chr14:70,474,558...70,520,234
JBrowse link
G Col11a1 collagen, type XI, alpha 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 3:114,030,479...114,220,756
Ensembl chr 3:114,030,540...114,220,718
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO
IEA
ClinVar Annotator: match by term: OI type III
ClinVar Annotator: match by term: Osteogenesis imperfecta type III
OMIM:259420
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE III/IV
ClinVar Annotator: match by OMIM:259420
OMIM
ClinVar
MouseDO
PMID:1445258, PMID:1770532, PMID:2037280, PMID:2511192, PMID:2794057, PMID:7691343, PMID:7695699, PMID:7789952, PMID:7942841, PMID:8094076, PMID:8125479, PMID:8218237, PMID:8408653, PMID:8456809, PMID:8613526, PMID:8669434, PMID:8723681, PMID:8786074, PMID:8808594, PMID:8910493, PMID:9016532, PMID:9067755, PMID:9101304, PMID:9295084, PMID:9443882, PMID:10408781, PMID:10931857, PMID:11286507, PMID:12590186, PMID:15024692, PMID:15024745, PMID:15741671, PMID:15864348, PMID:15931785, PMID:17078022, PMID:17309652, PMID:18412368, PMID:18553566, PMID:18670065, PMID:18704262, PMID:18798308, PMID:19344236, PMID:19358256, PMID:21249479, PMID:21567126, PMID:21667357, PMID:22589248, PMID:22753364, PMID:24390061, PMID:24668929, PMID:25086671, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26467025, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27748872, PMID:28378289, PMID:28492532, PMID:29150909, PMID:29499418, PMID:29807018, PMID:30675999 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO
IEA
ClinVar Annotator: match by term: OI type III
ClinVar Annotator: match by term: Osteogenesis imperfecta type III
OMIM:259420
ClinVar Annotator: match by OMIM:259420
OMIM
ClinVar
MouseDO
PMID:2064612, PMID:2824475, PMID:3023615, PMID:3995789, PMID:6092353, PMID:7695699, PMID:7749416, PMID:7860070, PMID:7881420, PMID:8081394, PMID:8094076, PMID:8218237, PMID:8444468, PMID:8728690, PMID:8829649, PMID:9016532, PMID:9143923, PMID:9272740, PMID:9594376, PMID:10807697, PMID:16705691, PMID:17078022, PMID:19208385, PMID:19344236, PMID:21520333, PMID:21667357, PMID:22206639, PMID:22589248, PMID:24501682, PMID:25326635, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26138843, PMID:26604951, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28492532, PMID:28498836, PMID:28810924, PMID:30311386, PMID:30715774 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 1:45,374,331...45,503,282
Ensembl chr 1:45,374,321...45,503,282
JBrowse link
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 4:119,232,915...119,248,977
Ensembl chr 4:119,232,915...119,248,975
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3, neutral IEA OMIM:259420 MouseDO NCBI chr 8:106,252,548...106,337,965
Ensembl chr 8:106,252,548...106,337,988
JBrowse link
G Wnt1 wingless-type MMTV integration site family, member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr15:98,789,857...98,793,830
Ensembl chr15:98,789,857...98,793,837
JBrowse link
osteogenesis imperfecta type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO
IEA
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV
ClinVar Annotator: match by term: OI type IV
OMIM:166220
ClinVar Annotator: match by term: Osteogenesis imperfecta type 4
ClinVar Annotator: match by OMIM:166220
OMIM
ClinVar
MouseDO
PMID:1718984, PMID:2037280, PMID:2745420, PMID:2794057, PMID:7695699, PMID:7942841, PMID:8218237, PMID:8408653, PMID:8456809, PMID:8613526, PMID:8669434, PMID:8786074, PMID:8808594, PMID:9007315, PMID:9016532, PMID:9067755, PMID:9101304, PMID:9295084, PMID:9443882, PMID:10417276, PMID:10931857, PMID:11317364, PMID:12590186, PMID:15024692, PMID:15024745, PMID:15741671, PMID:15864348, PMID:15931785, PMID:17078022, PMID:17309652, PMID:18412368, PMID:18553566, PMID:18704262, PMID:19344236, PMID:19358256, PMID:21249479, PMID:21567126, PMID:21667357, PMID:21884818, PMID:22589248, PMID:22753364, PMID:24390061, PMID:25086671, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26467025, PMID:26627451, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28378289, PMID:28492532, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: OI type IV
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV
ClinVar Annotator: match by OMIM:166220
OMIM
ClinVar
PMID:2064612, PMID:2897363, PMID:2993307, PMID:3372533, PMID:6092353, PMID:7695699, PMID:7860070, PMID:7881420, PMID:8094076, PMID:8218237, PMID:8456807, PMID:8786065, PMID:8829649, PMID:8829655, PMID:9016532, PMID:9143923, PMID:9268111, PMID:9272740, PMID:9594376, PMID:11288717, PMID:11836364, PMID:15077201, PMID:15241796, PMID:16705691, PMID:16816023, PMID:17078022, PMID:19344236, PMID:21520333, PMID:21667357, PMID:22206639, PMID:22589248, PMID:24501682, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26138843, PMID:26177859, PMID:26604951, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28492532, PMID:28498836, PMID:28810924, PMID:29595812, PMID:30311386 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
osteogenesis imperfecta type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 5
ClinVar Annotator: match by OMIM:610967
OMIM
ClinVar
PMID:22863190, PMID:22863195, PMID:23240094, PMID:23408678, PMID:23674381, PMID:24478195, PMID:24519609, PMID:24674092, PMID:25251575, PMID:25741868, PMID:28492532 NCBI chr 7:140,948,958...140,950,243
Ensembl chr 7:140,948,958...140,950,291
JBrowse link
G Suco SUN domain containing ossification factor IEA OMIM:610967 MouseDO NCBI chr 1:161,816,112...161,876,837
Ensembl chr 1:161,816,114...161,876,682
JBrowse link
osteogenesis imperfecta type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO
IEA
ClinVar Annotator: match by term: Osteogenesis imperfecta, type VI
OMIM:613982
ClinVar Annotator: match by OMIM:613982
OMIM
ClinVar
MouseDO
PMID:21353196, PMID:23054245, PMID:25565926, PMID:25741868, PMID:27056980, PMID:27796462, PMID:28492532 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
osteogenesis imperfecta type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crtap cartilage associated protein ISO
IEA
ClinVar Annotator: match by term: Osteogenesis imperfecta type 7
OMIM:610682
ClinVar Annotator: match by OMIM:610682
OMIM
ClinVar
MouseDO
PMID:12110406, PMID:17055431, PMID:17192541, PMID:18414213, PMID:18996919, PMID:19550437, PMID:19846465, PMID:23054245, PMID:24033266, PMID:25604815, PMID:25741868, PMID:28492532 NCBI chr 9:114,375,131...114,390,712
Ensembl chr 9:114,375,134...114,390,675
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 9:114,401,078...114,474,379
Ensembl chr 9:114,401,076...114,474,898
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 9:114,401,095...114,411,201
Ensembl chr 9:114,401,105...114,407,276
JBrowse link
osteogenesis imperfecta type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h1 prolyl 3-hydroxylase 1 ISO
IEA
ClinVar Annotator: match by term: Osteogenesis imperfecta type 8
OMIM:610915
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE VIII
ClinVar Annotator: match by OMIM:610915
OMIM
ClinVar
MouseDO
PMID:17277775, PMID:18566967, PMID:19088120, PMID:22281939, PMID:24498616, PMID:25741868, PMID:26634552, PMID:27509835, PMID:28492532, PMID:29150909, PMID:29499418 NCBI chr 4:119,232,915...119,248,977
Ensembl chr 4:119,232,915...119,248,975
JBrowse link
osteogenesis imperfecta type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppib peptidylprolyl isomerase B ISO
IEA
ClinVar Annotator: match by term: Osteogenesis imperfecta type 9
OMIM:259440
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar Annotator: match by OMIM:259440
OMIM
ClinVar
MouseDO
PMID:20089953, PMID:20484404, PMID:21282188, PMID:28492532 NCBI chr 9:66,060,169...66,066,629
Ensembl chr 9:66,060,222...66,066,623
JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar Annotator: match by term: Osteogenesis imperfecta type 9
ClinVar PMID:28492532 NCBI chr 9:66,065,174...66,069,759
Ensembl chr 9:66,065,176...66,069,719
JBrowse link
osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 low density lipoprotein receptor-related protein 5 ISO
IEA
ClinVar Annotator: match by term: Osteoporosis with pseudoglioma
OMIM:259770
DNA:mutations:cds:p.W478R,p.W504C(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:259770
OMIM
ClinVar
MouseDO
CTD
PMID:11719191, PMID:11793484, PMID:12579474, PMID:14727154, PMID:15024691, PMID:15077203, PMID:15201508, PMID:15619672, PMID:15767861, PMID:15777745, PMID:15824851, PMID:15824861, PMID:15850991, PMID:15981244, PMID:16252235, PMID:16679074, PMID:17086708, PMID:17137849, PMID:17202888, PMID:17223614, PMID:17241106, PMID:17306638, PMID:17307038, PMID:17505772, PMID:17766366, PMID:18058054, PMID:18349089, PMID:18493104, PMID:18588671, PMID:18825883, PMID:18932002, PMID:19023643, PMID:20034086, PMID:25741868, PMID:26467025, PMID:28492532, PMID:16679074, PMID:11719191 RGD:12792280, RGD:12792277 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564
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 ISO 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 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
polymyalgia rheumatica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 3:19,693,401...19,695,396
Ensembl chr 3:19,693,401...19,695,396
JBrowse link
G Crp C-reactive protein, pentraxin-related treatment ISO RGD PMID:2859021 RGD:9495925 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr13:23,702,034...23,710,854
Ensembl chr13:23,702,034...23,710,854
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 ISO protein:increased expression:plasma, endothelial microparticle (human) RGD PMID:22211720 RGD:6771319 NCBI chr11:106,654,213...106,715,281
Ensembl chr11:106,654,217...106,750,628
JBrowse link
Pretibial Epidermolysis Bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: Pretibial epidermolysis bullosa
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL
ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive
ClinVar Annotator: match by OMIM:131850
OMIM
ClinVar
PMID:7861014, PMID:8541842, PMID:8755915, PMID:9215684, PMID:9892921, PMID:10408773, PMID:10583163, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:24794830, PMID:25741868, PMID:28492532, PMID:28830826, PMID:30311386 NCBI chr 9:108,953,586...108,984,875
Ensembl chr 9:108,953,586...108,984,875
JBrowse link
Progressive Renal Failure with Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calca calcitonin/calcitonin-related polypeptide, alpha IMP RGD PMID:15928032 RGD:7204486 NCBI chr 7:114,625,981...114,636,910
Ensembl chr 7:114,631,478...114,636,357
JBrowse link
recessive dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen, type VII, alpha 1 ISO
ISS
IEA
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive
ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
ClinVar Annotator: match by term: RDEB, severe generalized
OMIM:226600
ClinVar
MouseDO
PMID:3771648, PMID:7577595, PMID:7695699, PMID:7833933, PMID:7883979, PMID:8037207, PMID:8088783, PMID:8218237, PMID:8513326, PMID:8644729, PMID:8755915, PMID:8900535, PMID:9215684, PMID:9242516, PMID:9326325, PMID:9668111, PMID:9740253, PMID:9804332, PMID:10084325, PMID:10408773, PMID:10469344, PMID:10504458, PMID:10583163, PMID:10944088, PMID:11000732, PMID:11167698, PMID:11781296, PMID:11843659, PMID:12485454, PMID:12787275, PMID:12813757, PMID:15888141, PMID:16271705, PMID:16971478, PMID:17425959, PMID:17495952, PMID:17501948, PMID:17916216, PMID:18030675, PMID:18414213, PMID:18558993, PMID:18951764, PMID:19026465, PMID:19344236, PMID:19643583, PMID:19681861, PMID:20184583, PMID:20357813, PMID:20507384, PMID:20598510, PMID:20920254, PMID:21448560, PMID:21471992, PMID:22058051, PMID:22266148, PMID:24032424, PMID:24033266, PMID:24947307, PMID:25525159, PMID:25741868, PMID:26064063, PMID:26076072, PMID:26102279, PMID:26763448, PMID:27153395, PMID:27746867, PMID:27899325, PMID:28492532, PMID:28830826, PMID:29531004, PMID:30311386, PMID:32860008 NCBI chr 9:108,953,586...108,984,875
Ensembl chr 9:108,953,586...108,984,875
JBrowse link
G Grip1 glutamate receptor interacting protein 1 IEA OMIM:226600 MouseDO NCBI chr10:119,453,238...120,087,267
Ensembl chr10:119,453,830...120,087,261
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISS OMIM:226600 MouseDO NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar
PMID:20522425, PMID:25741868 NCBI chr 1:181,815,315...181,842,401
Ensembl chr 1:181,815,335...181,843,046
JBrowse link
scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cilp cartilage intermediate layer protein, nucleotide pyrophosphohydrolase ISO ClinVar Annotator: match by term: Scleroderma ClinVar PMID:30311386 NCBI chr 9:65,265,180...65,280,614
Ensembl chr 9:65,265,180...65,280,605
JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 ISO ClinVar Annotator: match by term: Scleroderma ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:91,061,781...91,070,441
Ensembl chr 2:91,061,791...91,070,417
JBrowse link
Sclerotylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities OMIM
ClinVar
PMID:4298032, PMID:8731679, PMID:10631162, PMID:24909267, PMID:29409814 NCBI chr 6:65,042,591...65,116,061
Ensembl chr 6:65,042,583...65,116,061
JBrowse link
systemic scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO protein:decreased expression:plasma GAD
RGD
PMID:15118671, PMID:17360781 RGD:1331525, RGD:8548889 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Acta2 actin, alpha 2, smooth muscle, aorta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr19:34,240,336...34,255,585
Ensembl chr19:34,241,090...34,255,590
JBrowse link
G Adamts13 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 ISO protein:decreased expression:plasma (human) RGD PMID:12935979 RGD:10449040 NCBI chr 2:26,973,361...27,009,625
Ensembl chr 2:26,973,416...27,009,628
JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP
ISO
protein:increased expression:serum RGD PMID:18825489, PMID:18825489 RGD:8695973, RGD:8695973 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Anxa5 annexin A5 severity ISO RGD PMID:21124692 RGD:7242029 NCBI chr 3:36,448,923...36,475,887
Ensembl chr 3:36,448,923...36,475,894
JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO protein:increased expression:saliva (human) RGD PMID:17722226 RGD:11049167 NCBI chr 1:74,236,490...74,268,209
Ensembl chr 1:74,236,084...74,268,209
JBrowse link
G Bank1 B cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs: :rs10516487,rs17266594(human) RGD PMID:19815934 RGD:9684975 NCBI chr 3:136,053,363...136,326,141
Ensembl chr 3:136,053,363...136,326,066
JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21085492 RGD:5144060 NCBI chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
JBrowse link
G C3 complement component 3 ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Cav1 caveolin 1, caveolae protein susceptibility ISO DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human)
protein:decreased expression:lung, skin
RGD PMID:22402147, PMID:18759267 RGD:8661768, RGD:8661773 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 severity ISO protein:increased expression:respiratory system fluid/secretion
protein:increased expression:serum
RGD PMID:19615053, PMID:21049277, PMID:21285114 RGD:4891453, RGD:5135284, RGD:5683876 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccl20 chemokine (C-C motif) ligand 20 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Ccl3 chemokine (C-C motif) ligand 3 ISO protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr11:83,647,843...83,649,378
Ensembl chr11:83,647,844...83,649,355
JBrowse link
G Ccl4 chemokine (C-C motif) ligand 4 ISO protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr11:83,648,624...83,664,683
Ensembl chr11:83,662,584...83,664,683
JBrowse link
G Ccn1 cellular communication network factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 3:145,646,971...145,649,985
Ensembl chr 3:145,646,976...145,649,981
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr10:24,595,442...24,598,683
Ensembl chr10:24,595,442...24,598,683
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 IMP RGD PMID:23142052 RGD:9479741 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Ccr6 chemokine (C-C motif) receptor 6 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr17:8,236,041...8,258,519
Ensembl chr17:8,236,043...8,257,141
JBrowse link
G Cd247 CD247 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 1:165,779,952...165,871,153
Ensembl chr 1:165,788,681...165,877,277
JBrowse link
G Cd86 CD86 antigen ISO DNA:snp:5' utr:g.-3479T>G (human) RGD PMID:16790753 RGD:4892554 NCBI chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
JBrowse link
G Cfb complement factor B ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr17:34,856,374...34,862,514
Ensembl chr17:34,856,374...34,862,518
JBrowse link
G Chil1 chitinase-like 1 ISO protein:increased secretion:serum (human) RGD PMID:16195162 RGD:4892666 NCBI chr 1:134,182,156...134,190,031
Ensembl chr 1:134,182,176...134,190,181
JBrowse link
G Clu clusterin ISO protein:increased expression:serum RGD PMID:22350181 RGD:8898558 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO RGD PMID:1697606 RGD:5688336 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Col3a1 collagen, type III, alpha 1 IEA OMIM:181750 MouseDO NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
G Csf1 colony stimulating factor 1 (macrophage) ISO mRNA:increased expression:skin RGD PMID:22700848 RGD:7257593 NCBI chr 3:107,741,048...107,760,469
Ensembl chr 3:107,741,048...107,760,469
JBrowse link
G Cx3cl1 chemokine (C-X3-C motif) ligand 1 ISO protein:increased expression:serum RGD PMID:15608300 RGD:4891898 NCBI chr 8:94,772,180...94,782,427
Ensembl chr 8:94,772,009...94,782,427
JBrowse link
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 ISO
IMP
protein:increased expression:lung, skin
DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD PMID:15608300, PMID:23142052, PMID:16584113 RGD:4891898, RGD:9479741, RGD:4891896 NCBI chr 9:120,048,683...120,068,296
Ensembl chr 9:119,901,616...120,069,879
JBrowse link
G Cxcl10 chemokine (C-X-C motif) ligand 10 ISO protein:increased expression:serum RGD PMID:21303517, PMID:21049277 RGD:5135279, RGD:5135284 NCBI chr 5:92,346,638...92,348,889
Ensembl chr 5:92,346,638...92,348,889
JBrowse link
G Cxcl16 chemokine (C-X-C motif) ligand 16 ISO protein:increased expression:serum, skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr11:70,454,389...70,459,984
Ensembl chr11:70,453,983...70,459,984
JBrowse link
G Cxcl9 chemokine (C-X-C motif) ligand 9 ISO protein:increased expression:serum RGD PMID:21303517, PMID:21049277 RGD:5135279, RGD:5135284 NCBI chr 5:92,321,331...92,328,079
Ensembl chr 5:92,321,347...92,328,079
JBrowse link
G Cxcr3 chemokine (C-X-C motif) receptor 3 ISO protein:decreased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr  X:101,731,535...101,734,147
Ensembl chr  X:101,731,535...101,734,269
JBrowse link
G Cxcr6 chemokine (C-X-C motif) receptor 6 ISO protein:increased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr 9:123,806,477...123,811,754
Ensembl chr 9:123,806,475...123,811,760
JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:7653485 RGD:4145072 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Eln elastin ISO RGD PMID:22563211 RGD:9585742 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323
JBrowse link
G Esr1 estrogen receptor 1 (alpha) susceptibility ISO DNA:SNP:intron: RGD PMID:19032828 RGD:8553058 NCBI chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Esr2 estrogen receptor 2 (beta) no_association ISO DNA:SNP:exon: RGD PMID:19032828 RGD:8553058 NCBI chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G F11r F11 receptor ISO RGD PMID:19153103 RGD:7488918 NCBI chr 1:171,437,561...171,464,593
Ensembl chr 1:171,437,535...171,464,603
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma: RGD PMID:9374919 RGD:11565087 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G Fbn1 fibrillin 1 susceptibility IMP
IEA
ISO
OMIM:181750
DNA:insertion:5' utr
MouseDO PMID:11123012, PMID:10395706, PMID:12384286 RGD:7387265, RGD:12910471, RGD:12904889 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
G Fli1 Friend leukemia integration 1 IEA OMIM:181750 MouseDO NCBI chr 9:32,422,204...32,543,432
Ensembl chr 9:32,422,204...32,542,861
JBrowse link
G Flt4 FMS-like tyrosine kinase 4 ISO protein:increased expression:skin: RGD PMID:21865112 RGD:8552335 NCBI chr11:49,609,679...49,652,739
Ensembl chr11:49,609,263...49,652,739
JBrowse link
G Fosl2 fos-like antigen 2 IEA OMIM:181750 MouseDO NCBI chr 5:32,136,472...32,157,840
Ensembl chr 5:32,135,801...32,157,842
JBrowse link
G Fstl1 follistatin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr16:37,777,055...37,836,516
Ensembl chr16:37,776,873...37,836,514
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:missense mutation:cds:p.K173N (human) RGD PMID:15135176 RGD:12798510 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphism::HLA-DQA1*0501; RGD PMID:11014350 RGD:8547725 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr11:102,195,747...102,230,172
Ensembl chr11:102,194,432...102,230,166
JBrowse link
G Hgf hepatocyte growth factor treatment
severity
ISO protein:increased expression:serum:
mRNA:increased expression:skin:
RGD PMID:17049072, PMID:24387171, PMID:22286923 RGD:8548624, RGD:8548659, RGD:8548651 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
JBrowse link
G Hmgb1 high mobility group box 1 IEP protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chr 5:149,046,702...149,053,057
Ensembl chr 5:149,046,702...149,184,489
JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO RGD PMID:21569507 RGD:9999440 NCBI chr 7:28,808,546...28,822,268
Ensembl chr 7:28,808,541...28,822,266
JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO protein:increased expression:blood RGD PMID:18759276, PMID:8099861, PMID:1371389 RGD:8158120, RGD:8547587, RGD:8547576 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Ifng interferon gamma treatment ISO RGD PMID:1418004 RGD:8157622 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:19004037 RGD:12743606 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Il13 interleukin 13 no_association IEP
ISO
mRNA, protein:increased expression:skin
DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human)
protein:increased expression:serum
RGD PMID:15564778, PMID:22045834, PMID:9034992 RGD:5684370, RGD:8549502, RGD:5684371 NCBI chr11:53,631,323...53,634,702
Ensembl chr11:53,631,324...53,634,702
JBrowse link
G Il13ra1 interleukin 13 receptor, alpha 1 no_association ISO DNA:SNP:intron:43163G>A (rs6646259) (human) RGD PMID:22045834 RGD:8549502 NCBI chr  X:36,112,108...36,171,262
Ensembl chr  X:36,112,110...36,171,259
JBrowse link
G Il17a interleukin 17A IMP
ISO
protein:increased expression:epidermis, endodermis, mast cell (human) RGD PMID:22833167, PMID:23335253 RGD:8696037, RGD:8696038 NCBI chr 1:20,730,905...20,734,496
Ensembl chr 1:20,730,905...20,734,496
JBrowse link
G Il1b interleukin 1 beta susceptibility ISO DNA:polymorphisms:promoter:-31T>C,-511C>T (human) RGD PMID:17444587 RGD:4142872 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1r1 interleukin 1 receptor, type I ISO RGD PMID:1375465 RGD:8662902 NCBI chr 1:40,222,480...40,316,201
Ensembl chr 1:40,225,080...40,317,257
JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:2213757 RGD:8663482 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs: :rs11209026, rs11465804 (human)
DNA:SNPs: :rs11209032,rs1495965(human)
RGD PMID:19918037, PMID:18713787 RGD:5096624, RGD:8549603 NCBI chr 6:67,422,932...67,491,855
Ensembl chr 6:67,422,932...67,491,855
JBrowse link
G Il27 interleukin 27 ISO protein:increased expression:serum RGD PMID:20705635 RGD:5128477 NCBI chr 7:126,589,009...126,595,035
Ensembl chr 7:126,589,010...126,594,941
JBrowse link
G Il27ra interleukin 27 receptor, alpha ISO mRNA:increased expression:skin RGD PMID:20705635 RGD:5128477 NCBI chr 8:84,030,286...84,042,600
Ensembl chr 8:84,030,294...84,042,589
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum
mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma
RGD PMID:9034992, PMID:10473513 RGD:5684371, RGD:7829819 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:23406616 RGD:12792238 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Irf5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 6:29,526,130...29,541,869
Ensembl chr 6:29,526,625...29,541,871
JBrowse link
G Jam3 junction adhesion molecule 3 ISO protein:increased expression:skin
protein:decreased expression:skin, endothelial cell
RGD PMID:23001478, PMID:19439502 RGD:7488920, RGD:7488937 NCBI chr 9:27,097,384...27,155,421
Ensembl chr 9:27,097,384...27,155,421
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:decreased expression:bone marrow:
protein:increased expression:skin:
RGD PMID:22271757, PMID:21865112 RGD:8551843, RGD:8552335 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Lta lymphotoxin A susceptibility ISO DNA:SNP:intron:252A>G (human) RGD PMID:10600011 RGD:8548796 NCBI chr17:35,203,165...35,205,578
Ensembl chr17:35,203,165...35,205,351
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) severity ISO mRNA:decreased expression:skin
protein:increased expression:serum
RGD PMID:22286923, PMID:12051403 RGD:8548651, RGD:8693663 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp3 matrix metallopeptidase 3 severity ISO protein:increased expression:serum RGD PMID:12051403, PMID:15498049 RGD:8693663, RGD:8693674 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:15642145 RGD:1580577 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Muc1 mucin 1, transmembrane ISO protein:increased expression:serum RGD PMID:19286849 RGD:4143496 NCBI chr 3:89,229,056...89,233,381
Ensembl chr 3:89,229,057...89,233,381
JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphism: : RGD PMID:10599336 RGD:5147680 NCBI chr 8:67,494,875...67,502,644
Ensembl chr 8:67,494,858...67,502,584
JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 7:19,716,644...19,749,573
Ensembl chr 7:19,716,644...19,750,483
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum RGD PMID:21085492 RGD:5144060 NCBI chr 3:102,469,919...102,521,013
Ensembl chr 3:102,469,919...102,521,013
JBrowse link
G Notch4 notch 4 ISO DNA: SNPs: non-coding :multiple RGD PMID:21779181 RGD:6480691 NCBI chr17:34,564,286...34,588,543
Ensembl chr17:34,564,268...34,588,503
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 IEP protein:decreased expression:superficial vasculature (human) RGD PMID:20228226 RGD:11541095 NCBI chr11:106,654,213...106,715,281
Ensembl chr11:106,654,217...106,750,628
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21979415 RGD:5508306 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA: snp: cds: rs2476601
DNA:missense mutation:cds:p.R620W (rs2476601) (human)
RGD PMID:21131644, PMID:16464986 RGD:6484551, RGD:7829741 NCBI chr 3:103,856,575...103,912,252
Ensembl chr 3:103,859,795...103,912,247
JBrowse link
G Rhob ras homolog family member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr12:8,497,661...8,500,009
Ensembl chr12:8,497,661...8,500,009
JBrowse link
G S1pr5 sphingosine-1-phosphate receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29033951 NCBI chr 9:21,242,917...21,248,443
Ensembl chr 9:21,242,912...21,248,443
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:dermis,microvessel: RGD PMID:26414805 RGD:11343779 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Serpinf2 serine (or cysteine) peptidase inhibitor, clade F, member 2 ISO protein:increased expression:plasma RGD PMID:12595617 RGD:1625530 NCBI chr11:75,431,736...75,439,501
Ensembl chr11:75,431,732...75,439,591
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25707573 NCBI chr10:63,319,005...63,339,035
Ensembl chr10:63,319,005...63,381,704
JBrowse link
G Sirt7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25707573 NCBI chr11:120,618,371...120,625,014
Ensembl chr11:120,618,372...120,625,240
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO DNA:repeat, polymorphism:promoter, intron: (human) RGD PMID:17876529 RGD:5684940 NCBI chr 1:74,375,014...74,386,057
Ensembl chr 1:74,375,195...74,386,062
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNP:intron: (rs7574865) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs11889341) (human)
CTD PMID:20383147, PMID:19644887, PMID:19950257 RGD:8661700, RGD:8661711 NCBI chr 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I IEA OMIM:181750 MouseDO NCBI chr 4:47,353,222...47,414,926
Ensembl chr 4:47,353,222...47,414,931
JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr11:54,910,787...54,962,956
Ensembl chr11:54,910,785...54,962,917
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:skin
protein:increased expression:bone marrow:
protein:increased expression:serum:
mRNA,protein:increased expression:skin:
RGD PMID:16426919, PMID:22271757, PMID:24387171, PMID:21636803 RGD:5684416, RGD:8551843, RGD:8548659, RGD:7421579 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vwf Von Willebrand factor severity ISO RGD PMID:22596213 RGD:7205639 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
JBrowse link
transient bullous dermolysis of the newborn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form
ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:131705
OMIM
ClinVar
PMID:8345225, PMID:8755915, PMID:9406826, PMID:9856844, PMID:10408773, PMID:10504458, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16225626, PMID:16971478, PMID:17434045, PMID:19681861, PMID:20598510, PMID:22266148, PMID:23786535, PMID:24033266, PMID:24317394, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:108,953,586...108,984,875
Ensembl chr 9:108,953,586...108,984,875
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 IEA
ISO
OMIM:130050
ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type
MouseDO
ClinVar
OMIM
PMID:2049575, PMID:2235526, PMID:2349939, PMID:7695699, PMID:7833919, PMID:8218237, PMID:8514866, PMID:8881656, PMID:8990011, PMID:9036918, PMID:9399899, PMID:9557891, PMID:9712532, PMID:10706896, PMID:10923041, PMID:11577371, PMID:16751282, PMID:17053184, PMID:18043893, PMID:18272325, PMID:19011090, PMID:19344236, PMID:19424605, PMID:19455184, PMID:20052764, PMID:20518783, PMID:21086191, PMID:21520333, PMID:21533953, PMID:21637106, PMID:21984974, PMID:22001912, PMID:22019127, PMID:22713205, PMID:23148498, PMID:23234825, PMID:23688910, PMID:24033266, PMID:24036952, PMID:24055113, PMID:24399159, PMID:24922459, PMID:25503501, PMID:25637381, PMID:25741868, PMID:25758994, PMID:25776230, PMID:25834947, PMID:25846194, PMID:25944730, PMID:26017485, PMID:26188975, PMID:26332594, PMID:26666608, PMID:26854089, PMID:27011056, PMID:27153395, PMID:27306637, PMID:27888582, PMID:27964749, PMID:28492532, PMID:28655553, PMID:28742248, PMID:28748566, PMID:29543232, PMID:29778910, PMID:30115950, PMID:30122538, PMID:30374176, PMID:30379966, PMID:30793832, PMID:30919682, PMID:31719132 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor family, member 2 ISO ClinVar Annotator: match by term: Warburg-Cinotti syndrome ClinVar
OMIM
PMID:17103436, PMID:23637089, PMID:30449416 NCBI chr 1:169,972,307...170,110,836
Ensembl chr 1:169,972,307...170,110,762
JBrowse link
X-linked Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: NEPHROPATHY AND DEAFNESS, X-LINKED ClinVar NCBI chr  X:140,953,845...141,164,194
Ensembl chr  X:140,956,907...141,164,270
JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435, PMID:17396119, PMID:19129241, PMID:19675380, PMID:2002