Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 chain susceptibility IAGP
EXP
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 2:227,164,589...227,314,792
Ensembl chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP 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 2:226,970,293...227,164,482
Ensembl chr 2:227,002,714...227,164,453
Ensembl chr 2:227,002,714...227,164,453
JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP 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:108,439,838...108,697,545
Ensembl chr  X:108,439,844...108,697,545
Ensembl chr  X:108,439,844...108,697,545
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism: :HLA-DRB1*16(human) RGD PMID:15182324 RGD:7365078 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:11134255 PMID:12028435 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 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
JBrowse link
G MMP3 matrix metallopeptidase 3 IEP protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MYH9 myosin heavy chain 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
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 chain IAGP OMIM NCBI chr  X:108,155,607...108,439,493
Ensembl chr  X:108,155,607...108,439,497
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 chain IAGP ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss
ClinVar
OMIM
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 2:227,164,589...227,314,792
Ensembl chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP 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 2:226,970,293...227,164,482
Ensembl chr 2:227,002,714...227,164,453
Ensembl chr 2:227,002,714...227,164,453
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss
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 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
G MYH9 myosin heavy chain 9 IAGP DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
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 chain IAGP ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant ClinVar
OMIM
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 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,267
JBrowse link
G KRT5 keratin 5 IAGP ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042 PMID:8807337 PMID:25741868 PMID:30311386 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ClinVar
OMIM
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 2:227,164,589...227,314,792
Ensembl chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: Alport syndrome type 2
ClinVar
OMIM
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 2:226,970,293...227,164,482
Ensembl chr 2:227,002,714...227,164,453
Ensembl chr 2:227,002,714...227,164,453
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ClinVar PMID:1400291 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 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: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: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 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISS OMIM:203780 MouseDO NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
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 IAGP 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 chr15:40,470,984...40,473,158
Ensembl chr15:40,470,998...40,474,571
Ensembl chr15:40,470,998...40,474,571
JBrowse link
G PRDM5 PR/SET domain 5 IAGP ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1
ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar PMID:28492532 NCBI chr 4:120,684,906...120,922,849
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
G ZNF469 zinc finger protein 469 IAGP
EXP
ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1
ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:25741868 PMID:30311386 NCBI chr16:88,382,959...88,440,753
Ensembl chr16:88,382,989...88,440,757
Ensembl chr16:88,382,989...88,440,757
JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDM5 PR/SET domain 5 IAGP ClinVar Annotator: match by term: Brittle cornea syndrome 2 ClinVar
OMIM
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 NCBI chr 4:120,684,906...120,922,849
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP10 FKBP prolyl isomerase 10 IEA
IAGP
OMIM:259450 | OMIM:609220
ClinVar Annotator: match by term: Bruck Syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
Ensembl chr17:41,812,680...41,823,213
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IEA OMIM:259450 | OMIM:609220 MouseDO NCBI chr 3:146,069,437...146,161,184
Ensembl chr 3:146,069,440...146,163,653
JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP10 FKBP prolyl isomerase 10 IAGP ClinVar Annotator: match by term: Bruck syndrome 1
ClinVar Annotator: match by term: Kuskokwim disease
ClinVar
OMIM
PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 PMID:22949511 PMID:23712425 PMID:25741868 NCBI chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
Ensembl chr17:41,812,680...41,823,213
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 IAGP ClinVar Annotator: match by term: Bruck syndrome 2 ClinVar
OMIM
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 PMID:25741868 PMID:28492532 PMID:29178448 NCBI chr 3:146,069,437...146,161,184
Ensembl chr 3:146,069,440...146,163,653
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 subunit beta EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chr17:81,843,159...81,860,535
Ensembl chr17:81,843,161...81,860,624
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:118,722,823...118,838,683
Ensembl chr 4:118,722,823...118,838,683
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 subunit beta IAGP ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 ClinVar
OMIM
PMID:25683117 NCBI chr17:81,843,159...81,860,535
Ensembl chr17:81,843,161...81,860,624
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 homolog D, COPII coat complex component IAGP ClinVar Annotator: match by term: Cole-carpenter syndrome 2
ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar
OMIM
PMID:25683121 PMID:26467156 PMID:27942778 PMID:30462379 NCBI chr 4:118,722,823...118,838,683
Ensembl chr 4:118,722,823...118,838,683
JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPC centromere protein C IDA associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr 4:67,468,762...67,545,503
Ensembl chr 4:67,468,762...67,545,503
JBrowse link
G FBN1 fibrillin 1 IDA RGD PMID:10395706 RGD:12910471 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
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 IEP protein:decreased expression:serum RGD PMID:21615510 RGD:8694418 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G AGT angiotensinogen IEP protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility IAGP DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) RGD PMID:19815934 RGD:9684975 NCBI chr 4:101,790,482...102,074,812
Ensembl chr 4:101,411,286...102,074,812
JBrowse link
G CAV1 caveolin 1 susceptibility
no_association
IAGP 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 7:116,525,009...116,561,185
Ensembl chr 7:116,525,001...116,561,184
JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 IEP RGD PMID:18432520 RGD:5135258 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa IDA RGD PMID:8254199 RGD:5147984 NCBI chr 1:161,505,430...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism::HLA-DQA1*0501; RGD PMID:11014350 RGD:8547725 NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G IL10 interleukin 10 IEP protein:increased expression:serum RGD PMID:9034992 RGD:5684371 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL13 interleukin 13 IAGP DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) RGD PMID:16832637 RGD:5684369 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL6 interleukin 6 treatment IEP RGD PMID:20338043 RGD:12792275 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility IAGP DNA:missense mutation:cds:p.F196S (rs1059702) (human) RGD PMID:21898345 RGD:7495782 NCBI chr  X:154,010,507...154,019,984
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association
IAGP 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 2:191,029,576...191,172,684
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility IAGP RGD PMID:16112028 RGD:1578361 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,978
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility IAGP RGD PMID:16112028 RGD:1578361 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,770
JBrowse link
G TLR2 toll like receptor 2 disease_progression IAGP DNA:polymorphism:cds:p.P631H(rs5743704)(human) RGD PMID:21905008 RGD:8553044 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G WRN WRN RecQ like helicase IDA RGD PMID:16906373 RGD:10042980 NCBI chr 8:31,033,749...31,176,138
Ensembl chr 8:31,033,788...31,176,138
Ensembl chr 8:31,033,788...31,176,138
JBrowse link
Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 susceptibility IAGP RGD PMID:10417273 RGD:1598739 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 susceptibility IAGP DNA:transition:exon;808C>T RGD PMID:10473568 RGD:1599433 NCBI chr 5:177,600,102...177,610,330
Ensembl chr 5:177,600,132...177,610,330
JBrowse link
G C1R complement C1r IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO
ISS
DNA:transition mutation:splice junction:
OMIM:225400
MouseDO PMID:24443344 RGD:11571617 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP RGD PMID:15077201 RGD:1581198 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP
EXP
ISO
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:deletion:promoter, exons, introns
ClinVar
CTD
PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25846194 PMID:27011056 PMID:27964749 PMID:28492532 PMID:28748566 PMID:30374176, PMID:10706896, PMID:1370809, PMID:21071432, PMID:16012458 RGD:1300381, RGD:11041602, RGD:11041599, RGD:7257554 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP DNA:repeat:intron:IVS17 (human)
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
ClinVar PMID:8752669, PMID:10777716, PMID:11278977, PMID:12145749 RGD:734808, RGD:1581212, RGD:1581211, RGD:1581210 NCBI chr 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions RGD PMID:9425231 RGD:734809 NCBI chr 2:189,031,898...189,225,301
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G DCN decorin ISS OMIM:225400 MouseDO NCBI chr12:91,140,484...91,182,817
Ensembl chr12:91,140,484...91,183,217
Ensembl chr12:91,140,484...91,183,217
JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638
JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr 9:134,819,415...134,872,618 JBrowse link
G LOX lysyl oxidase IDA RGD PMID:8638917 RGD:1581895 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,360
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 TAS
IAGP
ISS
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
OMIM:225400
ClinVar
MouseDO
PMID:25741868 PMID:28492532, PMID:11714250 RGD:1599090 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO
EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G74D (human)
CTD PMID:18985159, PMID:18985159, PMID:18985159 RGD:11553861, RGD:11553861 NCBI chr11:47,407,132...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
G TGFB1 transforming growth factor beta 1 IEP protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TNXB tenascin XB IAGP RGD PMID:11642233 RGD:1599494 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
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 chain IAGP 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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type ClinVar NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP 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 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 2:189,031,898...189,225,301
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar PMID:10471441 PMID:15580559 PMID:22696272 PMID:25741868 PMID:28492532 NCBI chr 9:134,819,415...134,872,618 JBrowse link
Ehlers-Danlos syndrome arthrochalasia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP 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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP 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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
Ehlers-Danlos syndrome cardiac valvular type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP 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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP
EXP
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
ClinVar Annotator: match by term: Ehlers-Danlos syndrome cardiac valvular type
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
Ehlers-Danlos syndrome classic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,250,401...133,276,024
JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,414,337...133,459,403
Ensembl chr 9:133,414,358...133,459,402
JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
JBrowse link
G AK8 adenylate kinase 8 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,725,574...132,879,046
Ensembl chr 9:132,725,578...132,878,777
JBrowse link
G BARHL1 BarH like homeobox 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,582,606...132,590,252
Ensembl chr 9:132,582,606...132,590,252
JBrowse link
G BRD3 bromodomain containing 3 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:134,030,305...134,068,533
Ensembl chr 9:134,030,305...134,068,535
JBrowse link
G C9orf116 chromosome 9 open reading frame 116 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:135,495,181...135,499,869
Ensembl chr 9:135,495,181...135,501,734
JBrowse link
G C9orf62 chromosome 9 putative open reading frame 62 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:135,343,249...135,346,562
Ensembl chr 9:135,343,249...135,346,562
JBrowse link
G CACFD1 calcium channel flower domain containing 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,459,978...133,470,848
Ensembl chr 9:133,459,965...133,470,848
JBrowse link
G CASD1 CAS1 domain containing 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 7:94,509,809...94,633,465
Ensembl chr 7:94,509,219...94,557,019
JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,978...133,071,863
Ensembl chr 9:133,061,978...133,071,863
JBrowse link
G CFAP77 cilia and flagella associated protein 77 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,410,043...132,573,319
Ensembl chr 9:132,410,043...132,573,317
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP 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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP 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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP
EXP
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 Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
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 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A1-AS1 COL5A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:134,649,385...134,652,843
Ensembl chr 9:134,649,385...134,653,073
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP
ISS
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
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 2:189,031,898...189,225,301
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G DBH dopamine beta-hydroxylase IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
JBrowse link
G DDX31 DEAD-box helicase 31 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,592,997...132,670,401
Ensembl chr 9:132,592,997...132,670,401
JBrowse link
G FAM163B family with sequence similarity 163 member B IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,577,076...133,609,389
Ensembl chr 9:133,577,081...133,609,389
Ensembl chr 9:133,577,081...133,609,389
JBrowse link
G FCN1 ficolin 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:134,903,232...134,917,912
Ensembl chr 9:134,903,232...134,917,912
JBrowse link
G FCN2 ficolin 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:134,864,062...134,890,506
Ensembl chr 9:134,880,810...134,887,523
JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638
JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,152,948...133,163,914
Ensembl chr 9:133,152,948...133,163,933
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,945,531...132,991,697
Ensembl chr 9:132,944,000...132,991,687
JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:135,623,648...135,641,224
Ensembl chr 9:135,623,648...135,639,540
JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,670,035...132,694,955
Ensembl chr 9:132,670,035...132,694,953
JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,030,689...133,058,503
Ensembl chr 9:133,030,675...133,058,503
JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508
JBrowse link
G LCN1 lipocalin 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:135,521,296...135,526,540
Ensembl chr 9:135,521,438...135,526,532
JBrowse link
G LCN9 lipocalin 9 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:135,663,322...135,670,731
Ensembl chr 9:135,663,322...135,666,422
JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar PMID:7695699 PMID:8218237 PMID:8923000 PMID:9042913 PMID:10471441 PMID:10602121 PMID:10946364 PMID:15580559 PMID:19344236 PMID:19370768 PMID:22696272 PMID:23587214 PMID:25741868 PMID:28492532 PMID:29924831 NCBI chr 9:134,819,415...134,872,618 JBrowse link
G LUM lumican ISS OMIM:130000 MouseDO NCBI chr12:91,102,629...91,111,494
Ensembl chr12:91,102,629...91,111,494
JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,556...71,142,454
JBrowse link
G MED22 mediator complex subunit 22 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,338,312...133,348,131
Ensembl chr 9:133,338,312...133,348,131
JBrowse link
G MED27 mediator complex subunit 27 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:131,860,110...132,079,867
Ensembl chr 9:131,852,928...132,079,867
JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:135,499,965...135,504,673
Ensembl chr 9:135,499,984...135,504,673
JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 NCBI chr16:15,703,135...15,857,032
Ensembl chr16:15,703,135...15,857,028
JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
JBrowse link
G NTNG2 netrin G2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,161,234...132,244,534
Ensembl chr 9:132,161,676...132,244,526
JBrowse link
G OBP2A odorant binding protein 2A IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:135,544,812...135,549,969
Ensembl chr 9:135,546,139...135,549,969
JBrowse link
G OBP2B odorant binding protein 2B IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,205,279...133,223,255
Ensembl chr 9:133,205,277...133,209,250
JBrowse link
G OLFM1 olfactomedin 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:135,075,505...135,121,184
Ensembl chr 9:135,075,422...135,121,180
Ensembl chr 9:135,075,422...135,121,180
JBrowse link
G PAEP progestagen associated endometrial protein IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:135,561,627...135,566,955
Ensembl chr 9:135,561,756...135,566,955
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:135,477,650...135,488,894
Ensembl chr 9:135,479,079...135,488,893
JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,097,722...133,149,210
Ensembl chr 9:133,097,720...133,149,334
JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:131,576,770...131,740,076
Ensembl chr 9:131,576,770...131,740,074
JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,406,058...133,418,172
Ensembl chr 9:133,406,059...133,418,096
JBrowse link
G RNU6ATAC RNA, U6atac small nuclear (U12-dependent splicing) IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:134,164,440...134,164,564
Ensembl chr 9:134,164,439...134,164,564
JBrowse link
G RPL7A ribosomal protein L7a IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,348,218...133,351,426
Ensembl chr 9:133,348,218...133,351,426
JBrowse link
G RXRA retinoid X receptor alpha IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585
JBrowse link
G SARDH sarcosine dehydrogenase IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,663,074...133,739,958
Ensembl chr 9:133,663,560...133,739,955
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,261,356...132,356,726
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
G SGCE sarcoglycan epsilon IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 7:94,584,980...94,656,205
Ensembl chr 7:94,524,204...94,656,572
JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr20:46,708,358...46,736,347
Ensembl chr20:46,709,649...46,736,347
JBrowse link
G SLC2A6 solute carrier family 2 member 6 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,471,094...133,479,127
Ensembl chr 9:133,471,094...133,479,127
JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:135,691,862...135,702,112
Ensembl chr 9:135,693,407...135,704,498
Ensembl chr 9:135,693,407...135,704,498
JBrowse link
G SPACA9 sperm acrosome associated 9 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,878,320...132,890,314
Ensembl chr 9:132,878,027...132,890,201
JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,376,366...133,406,096
Ensembl chr 9:133,376,366...133,406,096
JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676
JBrowse link
G SURF2 surfeit 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,356,550...133,361,158
Ensembl chr 9:133,356,550...133,361,158
JBrowse link
G SURF4 surfeit 4 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,361,464...133,377,949
Ensembl chr 9:133,361,450...133,376,166
JBrowse link
G SURF6 surfeit 6 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,328,776...133,336,188
Ensembl chr 9:133,328,776...133,336,188
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:30675029 NCBI chr 9:99,104,038...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,891,349...132,945,269
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TTF1 transcription termination factor 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:132,375,548...132,406,840
Ensembl chr 9:132,375,548...132,406,851
JBrowse link
G UCK1 uridine-cytidine kinase 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:131,523,801...131,531,263
Ensembl chr 9:131,523,801...131,531,264
JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:133,761,894...133,992,374
Ensembl chr 9:133,761,894...133,992,604
JBrowse link
G WDR5 WD repeat domain 5 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:134,135,199...134,159,968
Ensembl chr 9:134,135,365...134,159,968
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 chain IAGP 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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP 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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL5A1 collagen type V alpha 1 chain EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome classic 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 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP 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 2:189,031,898...189,225,301
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:10471441 PMID:15580559 PMID:22696272 PMID:25741868 PMID:28492532 NCBI chr 9:134,819,415...134,872,618 JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:25741868 NCBI chr16:15,703,135...15,857,032
Ensembl chr16:15,703,135...15,857,028
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 LOC106780803 tenascin XB recombination region IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 1
ClinVar PMID:12865992 PMID:15733269 PMID:23768946 PMID:25741868 PMID:26075496 PMID:28344932 NCBI chr 6:32,041,608...32,046,122 JBrowse link
G TNXB tenascin XB IAGP ClinVar Annotator: match by term: Ehlers-Danlos-like syndrome due to tenascin-X deficiency ClinVar
OMIM
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 chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
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 IAGP ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 ClinVar
OMIM
PMID:25741868 PMID:27023906 PMID:29606302 NCBI chr 7:44,104,320...44,114,564
Ensembl chr 7:44,104,345...44,114,562
JBrowse link
Ehlers-Danlos syndrome dermatosparaxis type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP DNA:deletions: :
ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type vii, autosomal recessive
ClinVar
OMIM
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 chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
JBrowse link
G LOC112997581 Sharpr-MPRA regulatory region 9172 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar PMID:15373769 NCBI chr 5:179,198,808...179,199,102 JBrowse link
Ehlers-Danlos syndrome hypermobility type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP 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 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G TNXB tenascin XB IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
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 LOC112577486 Sharpr-MPRA regulatory region 8260 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient ClinVar NCBI chr 1:11,944,312...11,944,606 JBrowse link
G MFN2 mitofusin 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient ClinVar NCBI chr 1:11,980,215...12,013,508
Ensembl chr 1:11,980,181...12,015,211
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP
EXP
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP14 FKBP prolyl isomerase 14 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar Annotator: match by term: Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
OMIM
PMID:22265013 PMID:24677762 PMID:24773188 PMID:25741868 PMID:27149304 PMID:28492532 PMID:28617417 PMID:30311386 PMID:31132235 NCBI chr 7:30,010,587...30,026,702
Ensembl chr 7:30,010,587...30,026,702
Ensembl chr 7:30,010,587...30,026,702
JBrowse link
G FKBP14-AS1 FKBP14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:22265013 PMID:24677762 PMID:24773188 PMID:25741868 PMID:27149304 PMID:28492532 PMID:28617417 PMID:30311386 PMID:31132235 NCBI chr 7:29,988,600...30,026,079 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 IAGP
EXP
ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB
ClinVar
CTD
OMIM
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 chr15:40,470,984...40,473,158
Ensembl chr15:40,470,998...40,474,571
Ensembl chr15:40,470,998...40,474,571
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 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 ClinVar
OMIM
PMID:23704329 PMID:25703627 PMID:28492532 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
Ensembl chr 6:116,254,173...116,444,861
JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP OMIM NCBI chr 5:177,600,102...177,610,330
Ensembl chr 5:177,600,132...177,610,330
JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,292,384...1,307,930
Ensembl chr 1:1,292,390...1,309,609
JBrowse link
G AGRN agrin IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,020,102...1,056,119
Ensembl chr 1:1,020,120...1,056,118
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP 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 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
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 chr 5:177,600,102...177,610,330
Ensembl chr 5:177,600,132...177,610,330
JBrowse link
G C1orf159 chromosome 1 open reading frame 159 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,081,823...1,116,089
Ensembl chr 1:1,081,818...1,116,361
JBrowse link
G C1QTNF12 C1q and TNF related 12 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,242,448...1,247,218
Ensembl chr 1:1,242,446...1,246,722
JBrowse link
G INTS11 integrator complex subunit 11 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,311,597...1,324,660
Ensembl chr 1:1,311,585...1,324,691
Ensembl chr 1:1,311,585...1,324,691
JBrowse link
G ISG15 ISG15 ubiquitin like modifier IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540
JBrowse link
G MIR200A microRNA 200a IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952
JBrowse link
G MIR200B microRNA 200b IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
JBrowse link
G MIR429 microRNA 429 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087
JBrowse link
G PUSL1 pseudouridine synthase like 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,308,563...1,311,677
Ensembl chr 1:1,308,597...1,311,677
JBrowse link
G RNF223 ring finger protein 223 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,070,967...1,074,306
Ensembl chr 1:1,070,967...1,074,306
JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029
JBrowse link
G SDF4 stromal cell derived factor 4 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,216,908...1,232,005
Ensembl chr 1:1,216,908...1,232,067
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,203,508...1,207,901
Ensembl chr 1:1,203,508...1,206,592
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,211,326...1,216,812
Ensembl chr 1:1,211,340...1,214,153
JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,173,709...1,197,936
Ensembl chr 1:1,173,880...1,197,936
Ensembl chr 1:1,173,880...1,197,936
JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 ClinVar PMID:19492091 PMID:28492532 NCBI chr 1:1,253,912...1,273,854
Ensembl chr 1:1,253,909...1,273,885
Ensembl chr 1:1,253,909...1,273,885
JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC39A13 solute carrier family 39 member 13 IAGP DNA:deletion:cds:c.483_491del9 (human)
ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
ClinVar
OMIM
PMID:18513683 PMID:18985159 PMID:24033266 PMID:25741868 PMID:28492532, PMID:18513683 RGD:11553863 NCBI chr11:47,407,132...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP 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 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr 2:189,031,898...189,225,301
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G MIR1245A microRNA 1245a IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr 2:188,978,092...188,978,161
Ensembl chr 2:188,978,092...188,978,161
JBrowse link
G MIR1245B microRNA 1245b IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr 2:188,978,093...188,978,161
Ensembl chr 2:188,978,093...188,978,161
JBrowse link
G MIR3129 microRNA 3129 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr 2:189,133,036...189,133,111
Ensembl chr 2:189,133,036...189,133,111
JBrowse link
G MIR3606 microRNA 3606 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:1998337 PMID:2834369 PMID:20648054 PMID:28492532 NCBI chr 2:188,995,630...188,995,692
Ensembl chr 2:188,995,630...188,995,692
JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr 2:189,560,590...189,580,811
Ensembl chr 2:189,560,579...189,583,758
Ensembl chr 2:189,560,579...189,583,758
JBrowse link
G WDR75 WD repeat domain 75 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr 2:189,441,473...189,475,556
Ensembl chr 2:189,441,446...189,475,552
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 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:2404284 PMID:8347685 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP 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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient ClinVar PMID:25441681 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1R complement C1r IAGP 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 chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G C1S complement C1s IAGP ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE ClinVar PMID:27745832 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
JBrowse link
Ehlers-Danlos Syndrome, Periodontal Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1R complement C1r IAGP 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 chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G C1S complement C1s IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2 ClinVar
OMIM
PMID:25741868 PMID:27745832 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
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 chain susceptibility IAGP 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
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 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,267
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G MMP1 matrix metallopeptidase 1 severity IAGP DNA:insertion:promoter:g.-1607_-1606insG (human) OMIM PMID:18030675 RGD:8549728 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
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 chain IAGP ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant ClinVar PMID:8755915 PMID:9804332 PMID:16965329 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,267
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 chain IAGP ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant
ClinVar
OMIM
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 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,267
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 chain IAGP ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE ClinVar
OMIM
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 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,267
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 IAGP DNA:transition mutation:intron: 1522+1G>A(human) RGD PMID:17223882 RGD:11553841 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
gnathodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)
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)
ClinVar
OMIM
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:23047743, PMID:15124103 RGD:11570556, RGD:11570566 NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,799,934...22,283,357
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:3,021,467...3,022,903
Ensembl chr 1:3,021,467...3,022,903
JBrowse link
G AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 IAGP ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr 8:6,708,587...6,761,503
Ensembl chr 8:6,708,642...6,761,503
JBrowse link
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:81,867,719...81,871,337
Ensembl chr17:81,867,721...81,871,378
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G ASPN asporin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,482,506
JBrowse link
G CAPG capping actin protein, gelsolin like EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:85,394,753...85,418,467
Ensembl chr 2:85,394,753...85,418,432
JBrowse link
G CLIC1 chloride intracellular channel 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 6:31,730,581...31,737,318
Ensembl chr 6:31,730,581...31,739,763
JBrowse link
G COL1A1 collagen type I alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL3A1 collagen type III alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL5A1 collagen type V alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr15:78,340,353...78,348,225
Ensembl chr15:78,340,353...78,348,225
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463
JBrowse link
G FGG fibrinogen gamma chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
JBrowse link
G FOXL2 forkhead box L2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
JBrowse link
G FTH1 ferritin heavy chain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634
JBrowse link
G FTL ferritin light chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
JBrowse link
G HBD hemoglobin subunit delta EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr11:5,232,838...5,234,483
Ensembl chr11:5,232,678...5,243,657
JBrowse link
G LGALS1 galectin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr22:37,675,636...37,679,802
Ensembl chr22:37,675,636...37,679,802
JBrowse link
G MIF macrophage migration inhibitory factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MYDGF myeloid derived growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr19:4,657,545...4,670,391
Ensembl chr19:4,641,374...4,670,362
Ensembl chr19:4,641,374...4,670,362
JBrowse link
G MYL6B myosin light chain 6B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:56,152,587...56,157,982
Ensembl chr12:56,152,256...56,159,647
JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase EXP CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr15:55,826,917...55,993,612
Ensembl chr15:55,826,922...55,993,746
JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP ClinVar Annotator: match by term: Keloid formation ClinVar PMID:30311386 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,573...137,459,334
Ensembl chr 9:137,447,573...137,459,334
JBrowse link
G PFN1 profilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
JBrowse link
G PRDX1 peroxiredoxin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,511,036...45,523,047
JBrowse link
G PRDX2 peroxiredoxin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr19:12,796,823...12,801,800
Ensembl chr19:12,796,820...12,801,800
JBrowse link
G RAN RAN, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:130,871,879...130,877,678
Ensembl chr12:130,872,037...130,877,678
JBrowse link
G S100A10 S100 calcium binding protein A10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:151,982,915...151,993,859
Ensembl chr 1:151,982,915...151,993,859
JBrowse link
G S100A4 S100 calcium binding protein A4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:153,543,621...153,545,806
Ensembl chr 1:153,543,613...153,550,136
JBrowse link
G S100A8 S100 calcium binding protein A8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:153,390,032...153,422,583
Ensembl chr 1:153,390,032...153,391,073
JBrowse link
G S100A9 S100 calcium binding protein A9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:153,357,854...153,361,023
Ensembl chr 1:153,357,854...153,361,023
JBrowse link
G SERPINB5 serpin family B member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr18:63,476,958...63,505,085
Ensembl chr18:63,476,958...63,505,085
JBrowse link
G SERPINF1 serpin family F member 1 EXP
IEP
CTD Direct Evidence: marker/mechanism
protein:increased expression:skin of body (human)
CTD PMID:20128793, PMID:20128793 RGD:27226709 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SFN stratifin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:26,863,149...26,864,456
Ensembl chr 1:26,863,149...26,864,456
JBrowse link
G TAGLN transgelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr11:117,199,294...117,207,465
Ensembl chr11:117,199,370...117,207,464
JBrowse link
G TPM1 tropomyosin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr15:63,042,698...63,071,915
Ensembl chr15:63,042,632...63,071,915
JBrowse link
G TPSB2 tryptase beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr16:1,228,336...1,230,184
Ensembl chr16:1,227,272...1,230,184
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 chain IAGP
EXP
ClinVar Annotator: match by term: Kniest dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
limited scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV1 caveolin 1 susceptibility
no_association
IAGP 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 7:116,525,009...116,561,185
Ensembl chr 7:116,525,001...116,561,184
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA,protein:increased expression:skin RGD PMID:12925209 RGD:8661733 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,744...46,360,940
Ensembl chr 3:46,353,744...46,360,940
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:17102953 RGD:12903974 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FASLG Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G IL2 interleukin 2 susceptibility IAGP DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G JAK2 Janus kinase 2 IEP RGD PMID:20808962 RGD:4892610 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,128,183
Ensembl chr 9:4,984,390...5,128,183
JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G PGF placental growth factor IEP protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G STAT4 signal transducer and activator of transcription 4 no_association
susceptibility
IAGP 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 2:191,029,576...191,172,684
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility IAGP RGD PMID:16112028 RGD:1578361 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,770
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 chain IEP mRNA:increased expression:dermis RGD PMID:15727634 RGD:5688298 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
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 ISO mRNA,protein:increased expression:skin: RGD PMID:15803328 RGD:8662838 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,339
Ensembl chr 6:36,676,460...36,687,339
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:15863969 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G HGF hepatocyte growth factor treatment IDA RGD PMID:14712301 RGD:8548627 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP protein:increased expression:serum RGD PMID:7916356 RGD:8158116 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IL13 interleukin 13 IEP protein:increased expression:serum RGD PMID:12920362 RGD:8549537 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G LMNA lamin A/C EXP CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G MMP1 matrix metallopeptidase 1 IDA RGD PMID:9804345 RGD:1582543 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G TGFB1 transforming growth factor beta 1 IEP RGD PMID:7510487 RGD:7394847 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9843018 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 cell surface death receptor IEP protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FBN1 fibrillin 1 IDA RGD PMID:10395706 RGD:12910471 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism:cds:HLA-DRB1*04 (human) RGD PMID:12559632 RGD:5147801 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G IFNG interferon gamma IEP protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IDA RGD PMID:2968364 RGD:10448928 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C IDA associated with Hypertension, Pulmonary RGD PMID:10555891 RGD:10766447 NCBI chr 6:34,757,505...34,773,857
Ensembl chr 6:34,757,505...34,773,857
JBrowse link
G TLR3 toll like receptor 3 ISO RGD PMID:16453294 RGD:5129221 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,069,152...186,088,069
Ensembl chr 4:186,069,152...186,088,069
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP
ISO
DNA:transversion:intron:g.IVS10+3A>T (human)
ClinVar Annotator: match by term: Cutis laxa, X-linked
ClinVar Annotator: match by term: Occipital horn syndrome
ClinVar Annotator: match by term: EDS IX
DNA:snp:intron:c.2553+3A>C (mouse)
ClinVar
OMIM
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:9467005, PMID:7887410 RGD:11252184, RGD:11340205 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,656...78,050,395
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 chain IAGP ClinVar Annotator: match by term: Oi/eds combined syndrome ClinVar PMID:15728585 PMID:16407265 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
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 IAGP ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266 PMID:25741868 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
JBrowse link
G COL1A1 collagen type I alpha 1 chain severity IMP
IAGP
EXP
ISO
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Lobstein's Disease
CTD Direct Evidence: marker/mechanism
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:
DNA:snp:intron:c.3207+1G>A (human)
ClinVar
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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP
ISS
ISO
DNA:mutations, haplotype (human)
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Lobstein's Disease
ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
DNA:mutation:exon:c.87T > C(human)
DNA:deletion:exon:3983del (mouse)
DNA:snp:cds:p.G328S (human)
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:2567784, PMID:21341209, PMID:8446583, PMID:16705691 RGD:734804, RGD:11667066, RGD:7248772, RGD:1581197 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G CRTAP cartilage associated protein IAGP
EXP
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18566967 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
Ensembl chr17:41,812,680...41,823,213
JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO RGD PMID:24677211 RGD:12792279 NCBI chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G P3H1 prolyl 3-hydroxylase 1 EXP
IAGP
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 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084
JBrowse link
G PPIB peptidylprolyl isomerase B IAGP ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,812...64,163,205
Ensembl chr15:64,155,812...64,163,205
JBrowse link
G SERPINF1 serpin family F member 1 IAGP ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar PMID:25741868 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SERPINH1 serpin family H member 1 IAGP ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
JBrowse link
G SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266 PMID:25741868 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SMAD4 SMAD family member 4 ISS MouseDO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISS MouseDO NCBI chr16:68,358,327...68,448,703
Ensembl chr16:68,358,327...68,448,508
JBrowse link
G SNX22 sorting nexin 22 IAGP ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar NCBI chr15:64,151,698...64,157,481
Ensembl chr15:64,151,715...64,157,481
JBrowse link
G SP7 Sp7 transcription factor IAGP ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
JBrowse link
G SPARC secreted protein acidic and cysteine rich EXP CTD Direct Evidence: marker/mechanism CTD PMID:1793673 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
JBrowse link
G WNT1 Wnt family member 1 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620
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 chain IAGP 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
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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP 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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G ITGA3 integrin subunit alpha 3 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr17:50,056,065...50,090,481
Ensembl chr17:50,055,968...50,090,481
JBrowse link
G PDK2 pyruvate dehydrogenase kinase 2 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr17:50,094,737...50,112,152
Ensembl chr17:50,094,737...50,112,152
JBrowse link
G PPP1R9B protein phosphatase 1 regulatory subunit 9B IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr17:50,133,737...50,150,677
Ensembl chr17:50,133,737...50,150,677
JBrowse link
G SAMD14 sterile alpha motif domain containing 14 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr17:50,110,040...50,130,160
Ensembl chr17:50,110,040...50,130,160
Ensembl chr17:50,110,040...50,130,160
JBrowse link
G SGCA sarcoglycan alpha IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr17:50,165,517...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
osteogenesis imperfecta type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110121439 VISTA enhancer hs1748 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 ClinVar NCBI chr11:75,553,021...75,555,707 JBrowse link
G LOC116216154 CRISPRi-validated cis-regulatory element chr11.4355 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 ClinVar NCBI chr11:75,558,244...75,558,474 JBrowse link
G LOC116216155 CRISPRi-validated cis-regulatory element chr11.4356 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 ClinVar NCBI chr11:75,558,947...75,559,797 JBrowse link
G SERPINH1 serpin family H member 1 IAGP ClinVar Annotator: match by term: OI, TYPE X
ClinVar Annotator: match by term: Osteogenesis imperfecta type 10
ClinVar
OMIM
PMID:20188343 PMID:25510505 PMID:25741868 PMID:28492532 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
JBrowse link
osteogenesis imperfecta type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP10 FKBP prolyl isomerase 10 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta, type XI
ClinVar Annotator: match by term: OI, TYPE XI
OMIM
ClinVar
PMID:20362275 PMID:20839288 PMID:21567934 PMID:25741868 PMID:27362741 PMID:28492532 NCBI chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
Ensembl chr17:41,812,680...41,823,213
JBrowse link
osteogenesis imperfecta type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP10 FKBP prolyl isomerase 10 IAGP 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 chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
Ensembl chr17:41,812,680...41,823,213
JBrowse link
G SP7 Sp7 transcription factor IAGP ClinVar Annotator: match by term: OI, TYPE XII
ClinVar Annotator: match by term: Osteogenesis imperfecta type 12
ClinVar
OMIM
PMID:20579626 PMID:29382611 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
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 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii
ClinVar Annotator: match by term: OI, TYPE XIII
ClinVar
OMIM
PMID:15542026 PMID:22052668 PMID:22482805 PMID:24648371 PMID:25214535 PMID:25402547 PMID:28492532 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
JBrowse link
G LOC113788269 Sharpr-MPRA regulatory region 2962 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii ClinVar NCBI chr 8:22,194,376...22,194,670 JBrowse link
G SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: OI, TYPE XIII ClinVar NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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 IAGP OMIM NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629
JBrowse link
osteogenesis imperfecta type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT1 Wnt family member 1 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv ClinVar
OMIM
PMID:23434763 PMID:23499309 PMID:23499310 PMID:25741868 PMID:29481978 NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620
JBrowse link
G WNT10B Wnt family member 10B IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv ClinVar PMID:25741868 PMID:29481978 NCBI chr12:48,965,340...48,979,587
Ensembl chr12:48,965,340...48,971,735
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 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvi ClinVar
OMIM
PMID:25741868 PMID:29936144 PMID:30657919 NCBI chr11:46,277,661...46,321,409
Ensembl chr11:46,277,662...46,321,409
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 protein acidic and cysteine rich IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvii ClinVar
OMIM
PMID:26027498 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
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 IAGP ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XVIII ClinVar
OMIM
PMID:29358272 NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774
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 IAGP ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XIX ClinVar
OMIM
PMID:27380894 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
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 chain IAGP ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II
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 2, thin-bone
ClinVar
OMIM
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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II
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: OI, TYPE II
ClinVar
OMIM
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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISS OMIM:166210 MouseDO NCBI chr16:68,358,327...68,448,703
Ensembl chr16:68,358,327...68,448,508
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 IAGP ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XX OMIM
ClinVar
PMID:31564437 NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,828
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 chain IAGP ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
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 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type III
ClinVar Annotator: match by term: OI type III
ClinVar Annotator: match by term: Osteogenesis imperfecta, type III/iv
ClinVar
OMIM
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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type III
ClinVar Annotator: match by term: OI type III
ClinVar
OMIM
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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 2:189,031,898...189,225,301
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
Ensembl chr17:41,812,680...41,823,213
JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084
JBrowse link
G SERPINF1 serpin family F member 1 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISS OMIM:259420 MouseDO NCBI chr16:68,358,327...68,448,703
Ensembl chr16:68,358,327...68,448,508
JBrowse link
G WNT1 Wnt family member 1 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620
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 chain IAGP ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV
ClinVar Annotator: match by term: OI type IV
ClinVar Annotator: match by term: Osteogenesis imperfecta type 4
ClinVar
OMIM
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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type 4
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV
ClinVar Annotator: match by term: OI type IV
ClinVar
OMIM
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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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 IAGP ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE V
ClinVar Annotator: match by term: Osteogenesis imperfecta type 5
ClinVar
OMIM
PMID:22863190 PMID:22863195 PMID:23240094 PMID:23408678 PMID:23674381 PMID:24478195 PMID:24519609 PMID:24674092 PMID:25251575 PMID:25741868 PMID:28492532 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526
JBrowse link
G SUCO SUN domain containing ossification factor ISS OMIM:610967 MouseDO NCBI chr 1:172,532,349...172,611,833
Ensembl chr 1:172,532,349...172,611,833
JBrowse link
osteogenesis imperfecta type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINF1 serpin family F member 1 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta, type VI ClinVar
OMIM
PMID:21353196 PMID:23054245 PMID:25565926 PMID:25741868 PMID:27056980 PMID:27796462 PMID:28492532 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar
OMIM
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 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
JBrowse link
G GLB1 galactosidase beta 1 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 3:32,996,617...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 3:33,090,422...33,097,146
Ensembl chr 3:33,090,421...33,097,146
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 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type 8 ClinVar
OMIM
PMID:17277775 PMID:18566967 PMID:19088120 PMID:22281939 PMID:24498616 PMID:25741868 PMID:26634552 PMID:27509835 PMID:28492532 PMID:29150909 PMID:29499418 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084
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 IAGP ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar Annotator: match by term: Osteogenesis imperfecta type 9
ClinVar
OMIM
PMID:20089953 PMID:20484404 PMID:21282188 PMID:28492532 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,812...64,163,205
Ensembl chr15:64,155,812...64,163,205
JBrowse link
G SNX22 sorting nexin 22 IAGP ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar Annotator: match by term: Osteogenesis imperfecta type 9
ClinVar PMID:28492532 NCBI chr15:64,151,698...64,157,481
Ensembl chr15:64,151,715...64,157,481
JBrowse link
osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP5 LDL receptor related protein 5 IAGP
EXP
DNA:mutations:cds:
ClinVar Annotator: match by term: Osteoporosis with pseudoglioma
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:p.W478R,p.W504C(human)
ClinVar
CTD
OMIM
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:11719191, PMID:16679074 RGD:12792277, RGD:12792280 NCBI chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP 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 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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 IAGP DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
JBrowse link
G CRP C-reactive protein treatment IEP RGD PMID:2859021 RGD:9495925 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G HFE homeostatic iron regulator IAGP DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr 6:26,087,347...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G MBL2 mannose binding lectin 2 IAGP DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MMP3 matrix metallopeptidase 3 IEP RGD PMID:11796404 RGD:7241254 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 IEP protein:increased expression:plasma, endothelial microparticle (human) RGD PMID:22211720 RGD:6771319 NCBI chr17:64,319,415...64,413,844
Ensembl chr17:64,319,415...64,413,776
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 chain IAGP ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive
ClinVar Annotator: match by term: Pretibial epidermolysis bullosa
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL
ClinVar
OMIM
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 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,267
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 related polypeptide alpha ISO RGD PMID:15928032 RGD:7204486 NCBI chr11:14,966,668...14,972,361
Ensembl chr11:14,966,668...14,972,354
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 chain IAGP
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 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,267
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISS OMIM:226600 MouseDO NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
JBrowse link
G MMP1 matrix metallopeptidase 1 IEA OMIM:226600 MouseDO NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
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 IAGP ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar
PMID:20522425 PMID:25741868 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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 IAGP ClinVar Annotator: match by term: Scleroderma ClinVar PMID:30311386 NCBI chr15:65,194,760...65,213,142
Ensembl chr15:65,194,760...65,211,473
JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP ClinVar Annotator: match by term: Scleroderma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:47,407,132...47,416,500
Ensembl chr11:47,407,132...47,416,496
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 IAGP 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 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292
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 IEA
IEP
protein:decreased expression:plasma GAD
RGD
PMID:15118671, PMID:17360781 RGD:1331525, RGD:8548889 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACTA2 actin alpha 2, smooth muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 IEP protein:decreased expression:plasma (human) RGD PMID:12935979 RGD:10449040 NCBI chr 9:133,414,337...133,459,403
Ensembl chr 9:133,414,358...133,459,402
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO
IEP
protein:increased expression:serum RGD PMID:18825489, PMID:18825489 RGD:8695973, RGD:8695973 NCBI chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AGT angiotensinogen IEP protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G ANXA5 annexin A5 severity IDA RGD PMID:21124692 RGD:7242029 NCBI chr 4:121,667,946...121,696,994
Ensembl chr 4:121,667,946...121,696,995
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 IEP protein:increased expression:saliva (human) RGD PMID:17722226 RGD:11049167 NCBI chr 2:218,217,138...218,254,348
Ensembl chr 2:218,217,141...218,254,356
JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 susceptibility IAGP DNA:SNPs: :rs10516487,rs17266594(human) RGD PMID:19815934 RGD:9684975 NCBI chr 4:101,790,482...102,074,812
Ensembl chr 4:101,411,286...102,074,812
JBrowse link
G BDNF brain derived neurotrophic factor IEP protein:decreased expression:serum: RGD PMID:21085492 RGD:5144060 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G C3 complement C3 IEP protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CAV1 caveolin 1 susceptibility IAGP
IEP
DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human)
protein:decreased expression:lung, skin
RGD PMID:22402147, PMID:18759267 RGD:8661768, RGD:8661773 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,525,001...116,561,184
JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity IEP 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 chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCL20 C-C motif chemokine ligand 20 IEP mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CCL3 C-C motif chemokine ligand 3 IEP protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
JBrowse link
G CCL4 C-C motif chemokine ligand 4 IEP protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCN1 cellular communication network factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589
Ensembl chr 1:85,580,761...85,584,589
JBrowse link
G CCN2 cellular communication network factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:23142052 RGD:9479741 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,744...46,360,940
Ensembl chr 3:46,353,744...46,360,940
JBrowse link
G CCR6 C-C motif chemokine receptor 6 IEP mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,696
JBrowse link
G CD247 CD247 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 1:167,430,640...167,518,542
Ensembl chr 1:167,430,640...167,518,610
JBrowse link
G CD86 CD86 molecule IAGP DNA:snp:5' utr:g.-3479T>G (human) RGD PMID:16790753 RGD:4892554 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CFB complement factor B IEP protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,084
JBrowse link
G CHI3L1 chitinase 3 like 1 IEP protein:increased secretion:serum (human) RGD PMID:16195162 RGD:4892666 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
JBrowse link
G CLU clusterin IEP protein:increased expression:serum RGD PMID:22350181 RGD:8898558 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G COL1A1 collagen type I alpha 1 chain IEP RGD PMID:1697606 RGD:5688336 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISS OMIM:181750 MouseDO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G CSF1 colony stimulating factor 1 ISO mRNA:increased expression:skin RGD PMID:22700848 RGD:7257593 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 IEP protein:increased expression:serum RGD PMID:15608300 RGD:4891898 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 IEP
ISO
IAGP
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 3:39,263,494...39,281,735
Ensembl chr 3:39,263,494...39,281,735
Ensembl chr 3:39,263,494...39,281,735
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP protein:increased expression:serum RGD PMID:21303517, PMID:21049277 RGD:5135279, RGD:5135284 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL16 C-X-C motif chemokine ligand 16 IEP protein:increased expression:serum, skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr17:4,733,533...4,739,928
Ensembl chr17:4,733,533...4,739,928
Ensembl chr17:4,733,533...4,739,928
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 IEP protein:increased expression:serum RGD PMID:21303517, PMID:21049277 RGD:5135279, RGD:5135284 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 IEP protein:decreased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr  X:71,615,913...71,618,515
Ensembl chr  X:71,615,916...71,618,511
JBrowse link
G CXCR6 C-X-C motif chemokine receptor 6 IEP protein:increased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr 3:45,940,915...45,948,351
Ensembl chr 3:45,940,933...45,948,351
JBrowse link
G EDN1 endothelin 1 IEP protein:increased secretion:plasma (human) RGD PMID:7653485 RGD:4145072 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G ELN elastin IDA RGD PMID:22563211 RGD:9585742 NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ESR1 estrogen receptor 1 susceptibility IAGP DNA:SNP:intron: RGD PMID:19032828 RGD:8553058 NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G ESR2 estrogen receptor 2 no_association IAGP DNA:SNP:exon: RGD PMID:19032828 RGD:8553058 NCBI chr14:64,226,707...64,338,631
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G F11R F11 receptor IEP RGD PMID:19153103 RGD:7488918 NCBI chr 1:160,995,211...161,021,152
Ensembl chr 1:160,995,211...161,021,343
JBrowse link
G F2 coagulation factor II, thrombin IEP protein:increased expression:plasma: RGD PMID:9374919 RGD:11565087 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G FBN1 fibrillin 1 susceptibility ISO
ISS
IDA
IAGP
OMIM:181750
DNA:insertion:5' utr
MouseDO PMID:11123012, PMID:10395706, PMID:12384286 RGD:7387265, RGD:12910471, RGD:12904889 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISS OMIM:181750 MouseDO NCBI chr11:128,685,263...128,813,267
Ensembl chr11:128,686,535...128,813,267
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IEP protein:increased expression:skin: RGD PMID:21865112 RGD:8552335 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624
JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit ISS OMIM:181750 MouseDO NCBI chr 2:28,392,855...28,417,317
Ensembl chr 2:28,392,448...28,417,317
JBrowse link
G FSTL1 follistatin like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 3:120,392,293...120,450,993
Ensembl chr 3:120,392,293...120,450,993
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:missense mutation:cds:p.K173N (human) RGD PMID:15135176 RGD:12798510 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G HDAC5 histone deacetylase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr17:44,076,753...44,123,651
Ensembl chr17:44,076,746...44,123,702
JBrowse link
G HGF hepatocyte growth factor treatment
severity
IDA
IEP
protein:increased expression:serum:
mRNA:increased expression:skin:
RGD PMID:17049072, PMID:24387171, PMID:22286923 RGD:8548624, RGD:8548659, RGD:8548651 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism::HLA-DQA1*0501; RGD PMID:11014350 RGD:8547725 NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HMGB1 high mobility group box 1 IEP protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G HNRNPL heterogeneous nuclear ribonucleoprotein L IDA RGD PMID:21569507 RGD:9999440 NCBI chr19:38,836,370...38,852,347
Ensembl chr19:38,836,388...38,852,347
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression IEP protein:increased expression:blood RGD PMID:18759276, PMID:8099861, PMID:1371389 RGD:8158120, RGD:8547587, RGD:8547576 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IFNG interferon gamma treatment IDA RGD PMID:1418004 RGD:8157622 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP protein:increased expression:serum: RGD PMID:19004037 RGD:12743606 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G IL13 interleukin 13 no_association ISO
IAGP
IEP
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 chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 no_association IAGP DNA:SNP:intron:43163G>A (rs6646259) (human) RGD PMID:22045834 RGD:8549502 NCBI chr  X:118,726,954...118,794,533
Ensembl chr  X:118,727,133...118,794,535
JBrowse link
G IL17A interleukin 17A ISO
IEP
protein:increased expression:epidermis, endodermis, mast cell (human) RGD PMID:22833167, PMID:23335253 RGD:8696037, RGD:8696038 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL1B interleukin 1 beta susceptibility IAGP DNA:polymorphisms:promoter:-31T>C,-511C>T (human) RGD PMID:17444587 RGD:4142872 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1R1 interleukin 1 receptor type 1 IDA RGD PMID:1375465 RGD:8662902 NCBI chr 2:102,069,638...102,179,874
Ensembl chr 2:102,064,544...102,179,874
JBrowse link
G IL2 interleukin 2 IEP protein:increased expression:serum: RGD PMID:2213757 RGD:8663482 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL23R interleukin 23 receptor no_association IAGP DNA:SNPs: :rs11209026, rs11465804 (human)
DNA:SNPs: :rs11209032,rs1495965(human)
RGD PMID:19918037, PMID:18713787 RGD:5096624, RGD:8549603 NCBI chr 1:67,138,639...67,259,979
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IL27 interleukin 27 IEP protein:increased expression:serum RGD PMID:20705635 RGD:5128477 NCBI chr16:28,499,362...28,526,730
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G IL27RA interleukin 27 receptor subunit alpha IEP mRNA:increased expression:skin RGD PMID:20705635 RGD:5128477 NCBI chr19:14,031,762...14,053,218
Ensembl chr19:14,031,762...14,053,218
JBrowse link
G IL4 interleukin 4 IEP protein:increased expression:serum
mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma
RGD PMID:9034992, PMID:10473513 RGD:5684371, RGD:7829819 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 treatment IEP RGD PMID:23406616 RGD:12792238 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRF5 interferon regulatory factor 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G JAM3 junctional adhesion molecule 3 IEP protein:increased expression:skin
protein:decreased expression:skin, endothelial cell
RGD PMID:23001478, PMID:19439502 RGD:7488920, RGD:7488937 NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001
JBrowse link
G KDR kinase insert domain receptor IEP protein:decreased expression:bone marrow:
protein:increased expression:skin:
RGD PMID:22271757, PMID:21865112 RGD:8551843, RGD:8552335 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G LTA lymphotoxin alpha susceptibility IAGP DNA:SNP:intron:252A>G (human) RGD PMID:10600011 RGD:8548796 NCBI chr 6:31,560,550...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MMP1 matrix metallopeptidase 1 severity IEP mRNA:decreased expression:skin
protein:increased expression:serum
RGD PMID:22286923, PMID:12051403 RGD:8548651, RGD:8693663 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G MMP3 matrix metallopeptidase 3 severity IEP
IDA
protein:increased expression:serum RGD PMID:12051403, PMID:15498049 RGD:8693663, RGD:8693674 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MMP9 matrix metallopeptidase 9 IDA RGD PMID:15642145 RGD:1580577 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MUC1 mucin 1, cell surface associated IEP protein:increased expression:serum RGD PMID:19286849 RGD:4143496 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility IAGP DNA:polymorphism: : RGD PMID:10599336 RGD:5147680