RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | collagen disease |
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Accession: | DOID:854
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browse the term
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Definition: | A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. (DO) |
Synonyms: | exact_synonym: | collagen diseases; collagen disorder |
| primary_id: | MESH:D003095 |
| xref: | NCI:C27204 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Cldn14 |
claudin 14 |
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ISO |
ClinVar Annotator: match by term: Alport syndrome |
ClinVar |
PMID:30311386 |
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NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
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Col4a3 |
collagen type IV alpha 3 chain |
susceptibility |
ISO |
DNA:deletion, nonsense mutations ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1400291 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:12631109 PMID:14582039 PMID:14871398 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:18385178 PMID:18436078 PMID:19525337 PMID:20847057 PMID:21157337 PMID:21862460 PMID:21897443 PMID:22887978 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24052634 PMID:24130771 PMID:24633401 PMID:24854265 PMID:24944784 PMID:25229338 PMID:25307543 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25888712 PMID:26277931 PMID:26346198 PMID:26467025 PMID:26795916 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27391953 PMID:27485810 PMID:27627812 PMID:27859054 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28632965 PMID:28658201 PMID:28780565 PMID:29098738 PMID:29127259 PMID:29204651 PMID:29270492 PMID:29271581 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30245029 PMID:30295827 PMID:30311386 PMID:30406062 PMID:30476138 PMID:30487145 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30881523 PMID:30883042 PMID:31027891 PMID:31256874 PMID:31477057 PMID:31865346 PMID:32860008 PMID:33040356 PMID:33369211 PMID:33532864 PMID:34013111 PMID:34426522 PMID:35177655 PMID:7987301 More...
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RGD:1600924 |
NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane |
ClinVar |
PMID:1721625 PMID:9536098 PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 PMID:12325029 PMID:12631110 PMID:14582039 PMID:14871398 PMID:15618242 PMID:15880327 PMID:16199547 PMID:17216251 PMID:17396119 PMID:17576681 PMID:19129241 PMID:19675380 PMID:20029656 PMID:21196518 PMID:22887978 PMID:23349334 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24472419 PMID:24522496 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25514610 PMID:25575550 PMID:25741868 PMID:25755845 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27365461 PMID:27884173 PMID:28059119 PMID:28476686 PMID:28492532 PMID:28632965 PMID:28780565 PMID:28844315 PMID:28968992 PMID:29098738 PMID:29496980 PMID:29742505 PMID:29924831 PMID:30406062 PMID:30647093 PMID:30745910 PMID:30968591 PMID:31049720 PMID:31408864 PMID:31922066 PMID:32332277 PMID:32703181 PMID:32939031 PMID:33048202 PMID:33532864 PMID:33772369 PMID:33838161 More...
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
Alport Syndrome, OMIM:301050, DNA:deletion:exons ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane |
ClinVar RGD |
PMID:2349482 PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651292 PMID:8651296 PMID:8940267 PMID:9195222 PMID:9848783 PMID:10563487 PMID:10752524 PMID:11223851 PMID:12028435 PMID:14514738 PMID:15044104 PMID:15780079 PMID:15954103 PMID:17396119 PMID:18083113 PMID:19344236 PMID:19728970 PMID:19919694 PMID:19965530 PMID:20301386 PMID:20378821 PMID:21332469 PMID:23144074 PMID:23572034 PMID:23720012 PMID:24046192 PMID:24077912 PMID:24130771 PMID:24304881 PMID:24470729 PMID:24854265 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27627812 PMID:28492532 PMID:28542346 PMID:28844315 PMID:29127259 PMID:29142990 PMID:29526710 PMID:29854973 PMID:30577881 PMID:30655312 PMID:30691124 PMID:30773290 PMID:31850286 PMID:31922066 PMID:32405592 PMID:33532864 PMID:34008892 PMID:2349482 More...
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RGD:1600687 |
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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Il1b |
interleukin 1 beta |
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ISO |
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RGD |
PMID:22937108 |
RGD:7175090 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mmp12 |
matrix metallopeptidase 12 |
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ISO |
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RGD |
PMID:16816359 |
RGD:7241212 |
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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Mmp3 |
matrix metallopeptidase 3 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:16509766 |
RGD:7241252 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Myh9 |
myosin, heavy chain 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10973259 |
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NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Myo15a |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Alport syndrome |
ClinVar |
PMID:30311386 |
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NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism: :HLA-DRB1*16 (human) |
RGD |
PMID:15182324 |
RGD:7365078 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Col4a6 |
collagen type IV alpha 6 chain |
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ISO |
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OMIM |
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NCBI chr X:104,766,463...105,117,499
Ensembl chr X:104,766,957...105,117,500
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Col4a3 |
collagen type IV alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss |
OMIM ClinVar |
PMID:1400291 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17576681 PMID:18436078 PMID:19525337 PMID:20177710 PMID:20301386 PMID:20847057 PMID:21157337 PMID:21897443 PMID:22887978 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24262798 PMID:24633401 PMID:24854265 PMID:24944784 PMID:25229338 PMID:25307543 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25525159 PMID:25741868 PMID:26138234 PMID:26277931 PMID:26346198 PMID:26467025 PMID:26795916 PMID:26809805 PMID:26920127 PMID:26934356 PMID:27281700 PMID:27391953 PMID:27485810 PMID:27627812 PMID:27796712 PMID:27859054 PMID:27904025 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28632965 PMID:28658201 PMID:28780565 PMID:28844315 PMID:29098738 PMID:29204651 PMID:29271581 PMID:29801666 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30311386 PMID:30406062 PMID:30476138 PMID:30487145 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30828794 PMID:30881523 PMID:31027891 PMID:31256874 PMID:31387071 PMID:31477057 PMID:31807928 PMID:31865346 PMID:32860008 PMID:33040356 PMID:33369211 PMID:33391746 PMID:33532864 PMID:33838161 PMID:33854215 PMID:34013111 PMID:34113375 PMID:34426522 PMID:34906502 PMID:35177655 More...
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NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome |
ClinVar |
PMID:9536098 PMID:9792860 PMID:11961012 PMID:12631110 PMID:12748344 PMID:14582039 PMID:15618242 PMID:15954103 PMID:17576681 PMID:19129241 PMID:20301386 PMID:21196518 PMID:21897443 PMID:24033266 PMID:24052634 PMID:24522496 PMID:24633401 PMID:24854265 PMID:25307543 PMID:25525159 PMID:25596306 PMID:25741868 PMID:26467025 PMID:26809805 PMID:27281700 PMID:28492532 PMID:28632965 PMID:28844315 PMID:29801666 PMID:29854973 PMID:30745910 PMID:31934206 PMID:33369211 PMID:33532864 PMID:33772369 More...
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Alport syndrome |
ClinVar |
PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 PMID:9848783 PMID:12028435 PMID:14514738 PMID:19344236 PMID:19965530 PMID:23144074 PMID:23720012 PMID:24046192 PMID:25741868 PMID:27627812 PMID:28492532 PMID:30577881 PMID:30773290 More...
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NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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Myh9 |
myosin, heavy chain 9 |
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ISO |
DNA:missense mutation:exon:4270G>C,D1424H (human) |
RGD |
PMID:12500226 |
RGD:6902925 |
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant |
OMIM ClinVar |
PMID:1680286 PMID:7577595 PMID:7695699 PMID:7861014 PMID:8170945 PMID:8218237 PMID:8288900 PMID:8345225 PMID:8644729 PMID:8755915 PMID:9215684 PMID:9347800 PMID:9536098 PMID:9668111 PMID:9856843 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10232408 PMID:10233777 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:11781296 PMID:11874498 PMID:11952672 PMID:12485454 PMID:12735646 PMID:12787275 PMID:14616374 PMID:15888141 PMID:16189623 PMID:16484981 PMID:16557343 PMID:16965329 PMID:16971478 PMID:17336503 PMID:17425959 PMID:17576681 PMID:18429782 PMID:19197535 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20598510 PMID:21448560 PMID:22058051 PMID:22266148 PMID:24033266 PMID:24794830 PMID:25741868 PMID:26076072 PMID:26148662 PMID:26467025 PMID:28492532 PMID:28830826 PMID:30280950 PMID:32860008 PMID:35979658 More...
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NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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Ccr1 |
C-C motif chemokine receptor 1 |
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ISO |
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RGD |
PMID:15716328 |
RGD:5688157 |
NCBI chr 8:123,556,286...123,561,841
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Col4a3 |
collagen type IV alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome |
OMIM ClinVar |
PMID:1400291 PMID:7633417 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:9647515 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17396119 PMID:17576681 PMID:18385178 PMID:18436078 PMID:20847057 PMID:21157337 PMID:21897443 PMID:22887978 PMID:23297803 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24262798 PMID:24633401 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25888712 PMID:26138234 PMID:26277931 PMID:26346198 PMID:26467025 PMID:26594346 PMID:26795916 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27485810 PMID:27627812 PMID:27796712 PMID:27859054 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28632965 PMID:28658201 PMID:28780565 PMID:29204651 PMID:29271581 PMID:29801666 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30311386 PMID:30406062 PMID:30487145 PMID:30773290 PMID:30819905 PMID:30881523 PMID:31027891 PMID:31256874 PMID:31477057 PMID:31807928 PMID:31865346 PMID:32860008 PMID:33369211 PMID:33391746 PMID:33532864 PMID:33772369 PMID:33838161 PMID:33854215 PMID:34013111 PMID:34400539 PMID:34426522 PMID:35177655 More...
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NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome |
OMIM ClinVar |
PMID:7987396 PMID:8787673 PMID:9195222 PMID:9536098 PMID:9792860 PMID:11961012 PMID:12028435 PMID:12325029 PMID:12631110 PMID:12748344 PMID:14582039 PMID:15618242 PMID:15954103 PMID:16199547 PMID:16338941 PMID:17216251 PMID:17396119 PMID:17576681 PMID:19129241 PMID:19675380 PMID:20029656 PMID:20301386 PMID:21196518 PMID:21897443 PMID:22887978 PMID:23349334 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24472419 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:26628290 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27469977 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28542346 PMID:28632965 PMID:28844315 PMID:28968992 PMID:29098738 PMID:29496980 PMID:29742505 PMID:29801666 PMID:29854973 PMID:29873249 PMID:30406062 PMID:30647093 PMID:30745910 PMID:30883042 PMID:30968591 PMID:31049720 PMID:31408864 PMID:31922066 PMID:32332277 PMID:32703181 PMID:32939031 PMID:33048202 PMID:33369211 PMID:33532864 PMID:33772369 PMID:33838161 PMID:33854215 PMID:34625929 PMID:34746741 PMID:35369551 More...
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive Alport syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive Alport syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Mpv17 |
mitochondrial inner membrane protein MPV17 |
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ISS |
OMIM:203780 |
MouseDO |
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NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 PMID:25564447 PMID:25741868 PMID:28377322 PMID:28484309 PMID:28492532 PMID:29228253 PMID:31107761 PMID:32671420 PMID:33739556 PMID:33747040 PMID:33816482 PMID:34368841 More...
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NCBI chr19:50,282,434...50,324,010
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 2 |
OMIM ClinVar |
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556 PMID:34008892 More...
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 1 |
ClinVar |
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 1 |
OMIM ClinVar |
PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:23712425 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 PMID:30715774 More...
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NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 2 |
OMIM ClinVar |
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28116328 PMID:28492532 PMID:29177700 PMID:29178448 PMID:32655337 More...
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NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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P4hb |
prolyl 4-hydroxylase subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cole-Carpenter syndrome |
CTD ClinVar |
PMID:25741868 |
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NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
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Sec24d |
SEC24 homolog D, COPII coat complex component |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587
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G |
P4hb |
prolyl 4-hydroxylase subunit beta |
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ISO |
ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 |
OMIM ClinVar |
PMID:25683117 PMID:25741868 PMID:28492532 |
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NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
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G |
Sec24d |
SEC24 homolog D, COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 |
OMIM ClinVar |
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 PMID:30462379 More...
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NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 |
OMIM ClinVar |
PMID:7695699 PMID:7942841 PMID:8218237 PMID:8456808 PMID:8613526 PMID:8808594 PMID:9016532 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:11113887 PMID:11317364 PMID:12362985 PMID:15024745 PMID:15241796 PMID:15728585 PMID:15741671 PMID:16407265 PMID:17078022 PMID:17206620 PMID:17392686 PMID:17576681 PMID:18272325 PMID:18996919 PMID:19344236 PMID:19491628 PMID:20981092 PMID:21594610 PMID:21667357 PMID:22206639 PMID:23265383 PMID:23587214 PMID:23692737 PMID:24767406 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26467025 PMID:26627451 PMID:27044453 PMID:27132807 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28436160 PMID:28492532 PMID:28498836 PMID:28725987 PMID:29499418 PMID:29595812 PMID:30614853 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 More...
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2 |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:10027910 PMID:10982177 PMID:11288717 PMID:11317364 PMID:16705691 PMID:16786509 PMID:17078022 PMID:18311573 PMID:18996919 PMID:19344236 PMID:21520333 PMID:21667357 PMID:22589248 PMID:23692737 PMID:25146735 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26371943 PMID:26432670 PMID:26467025 PMID:27510842 PMID:28378289 PMID:28492532 PMID:29150909 PMID:30715774 PMID:30821104 More...
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Cenpc |
centromere protein C |
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ISO |
associated with Anticentromere antibody positivity |
RGD |
PMID:25220385 |
RGD:27372886 |
NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476
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G |
Fbn1 |
fibrillin 1 |
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ISO |
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RGD |
PMID:10395706 |
RGD:12910471 |
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
severity |
ISO |
protein:decreased expression:serum |
RGD |
PMID:21615510 |
RGD:8694418 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Agt |
angiotensinogen |
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ISO |
protein:increased expression:serum |
RGD |
PMID:14730619 |
RGD:8548886 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Bank1 |
B-cell scaffold protein with ankyrin repeats 1 |
susceptibility |
ISO |
DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) |
RGD |
PMID:19815934 |
RGD:9684975 |
NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
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G |
Cav1 |
caveolin 1 |
susceptibility no_association |
ISO |
DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human) DNA:SNPs:enhancer, intron:multiple |
RGD |
PMID:22402147 PMID:22402147 |
RGD:8661768, RGD:8661768 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
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ISO |
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RGD |
PMID:18432520 |
RGD:5135258 |
NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
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G |
Fcgr2a |
Fc gamma receptor 2A |
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ISO |
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RGD |
PMID:8254199 |
RGD:5147984 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Il10 |
interleukin 10 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:9034992 |
RGD:5684371 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il13 |
interleukin 13 |
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ISO |
DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) |
RGD |
PMID:16832637 |
RGD:5684369 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il6 |
interleukin 6 |
treatment |
ISO |
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RGD |
PMID:20338043 |
RGD:12792275 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
susceptibility |
ISO |
DNA:missense mutation:cds:p.F196S (rs1059702) (human) |
RGD |
PMID:21898345 |
RGD:7495782 |
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
Kdr |
kinase insert domain receptor |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:19886888 |
RGD:8551850 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphism::HLA-DQA1*0501; |
RGD |
PMID:11014350 |
RGD:8547725 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
Stat4 |
signal transducer and activator of transcription 4 |
susceptibility no_association |
ISO |
DNA:SNP:introns: (rs7574865, rs10168266) (human) DNA:SNP:intron: (rs7574865) (human) DNA:SNP:intron: (rs3821236) (human) |
RGD |
PMID:23755762 PMID:19286670 PMID:23755762 |
RGD:8661701, RGD:8661714, RGD:8661701 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
susceptibility |
ISO |
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RGD |
PMID:16112028 |
RGD:1578361 |
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
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RGD |
PMID:16112028 |
RGD:1578361 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27228633 |
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NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Tlr2 |
toll-like receptor 2 |
disease_progression |
ISO |
DNA:polymorphism:cds:p.P631H(rs5743704)(human) |
RGD |
PMID:21905008 |
RGD:8553044 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Wrn |
WRN RecQ like helicase |
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ISO |
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RGD |
PMID:16906373 |
RGD:10042980 |
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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G |
Adamts2 |
ADAM metallopeptidase with thrombospondin type 1 motif, 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
RGD ClinVar |
PMID:10417273 PMID:22863189 PMID:25741868 PMID:28346524 PMID:28492532 PMID:29843651 More...
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RGD:1598739 |
NCBI chr10:34,920,996...35,126,465
Ensembl chr10:34,921,049...35,123,821
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G |
Atp7a |
ATPase copper transporting alpha |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:10570920 PMID:11241493 PMID:18414213 PMID:20045993 PMID:23281160 PMID:25741868 PMID:28492532 More...
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NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
susceptibility |
ISO |
DNA:transition:exon;808C>T ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:31278392 PMID:31614862 PMID:10473568 |
RGD:1599433 |
NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:25188385 PMID:25741868 PMID:28492532 PMID:32214361 |
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NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO ISS |
DNA:transition mutation:splice junction: ClinVar Annotator: match by term: Ehlers-Danlos syndrome OMIM:225400 |
ClinVar MouseDO RGD |
PMID:7691343 PMID:7695699 PMID:8079666 PMID:8218237 PMID:8456808 PMID:9016532 PMID:9536098 PMID:10739762 PMID:11090261 PMID:11317364 PMID:11432962 PMID:15741671 PMID:16474405 PMID:16773572 PMID:16786509 PMID:16879195 PMID:17056636 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18996919 PMID:19344236 PMID:19550437 PMID:19751715 PMID:20696291 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22753364 PMID:23265383 PMID:23587214 PMID:24147872 PMID:24668929 PMID:25146735 PMID:25525159 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26633542 PMID:27011056 PMID:27380894 PMID:27510842 PMID:27519266 PMID:28492532 PMID:28748566 PMID:29543232 PMID:29946973 PMID:30715774 PMID:31584903 PMID:32166892 PMID:34422331 PMID:34426522 PMID:24443344 More...
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RGD:11571617 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar RGD |
PMID:1577745 PMID:1634225 PMID:1712342 PMID:1990839 PMID:3049731 PMID:3383844 PMID:3621666 PMID:3733683 PMID:7864655 PMID:9536098 PMID:15077201 PMID:16786509 PMID:17576681 PMID:18996919 PMID:21239989 PMID:21520333 PMID:24033266 PMID:25741868 PMID:25944380 PMID:26402641 PMID:26467025 PMID:27056980 PMID:28492532 PMID:34025714 PMID:15077201 More...
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RGD:1581198 |
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Col3a1 |
collagen type III alpha 1 chain |
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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 RGD |
PMID:2049575 PMID:2235526 PMID:8514866 PMID:9036918 PMID:9399899 PMID:18272325 PMID:19424605 PMID:21086191 PMID:21984974 PMID:22001912 PMID:22019127 PMID:24033266 PMID:24036952 PMID:24055113 PMID:25503501 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:27011056 PMID:27888582 PMID:27964749 PMID:28492532 PMID:28748566 PMID:29192238 PMID:30115950 PMID:30374176 PMID:31141158 PMID:10706896 PMID:1370809 PMID:21071432 PMID:16012458 More...
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RGD:1300381, RGD:11041602, RGD:11041599, RGD:7257554 |
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome DNA:repeat:intron:IVS17 (human) |
ClinVar RGD |
PMID:10471441 PMID:10602121 PMID:10777716 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26608033 PMID:26854089 PMID:28492532 PMID:28550590 PMID:29924831 PMID:30858776 PMID:31064749 PMID:32938213 PMID:33206719 PMID:12145749 PMID:11278977 PMID:10777716 PMID:8752669 More...
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RGD:1581210, RGD:1581211, RGD:1581212, RGD:734808 |
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO |
EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar RGD |
PMID:2855059 PMID:9536098 PMID:11940702 PMID:17576681 PMID:25741868 PMID:28132693 PMID:28492532 PMID:28550590 PMID:9425231 More...
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RGD:734809 |
NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
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G |
Dcn |
decorin |
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ISS |
OMIM:225400 |
MouseDO |
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NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
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G |
Dse |
dermatan sulfate epimerase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
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G |
Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:19006240 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25525159 PMID:25741868 PMID:26038974 PMID:26257771 PMID:28492532 PMID:28831199 PMID:31096651 PMID:32534992 PMID:33435129 More...
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NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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G |
Fkbp14 |
FKBP prolyl isomerase 14 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Lox |
lysyl oxidase |
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ISO |
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RGD |
PMID:8638917 |
RGD:1581895 |
NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISS ISO |
OMIM:225400 ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
MouseDO ClinVar |
PMID:9220536 PMID:9536098 PMID:9893157 PMID:10329027 PMID:10686424 PMID:10874315 PMID:11001813 PMID:14565595 PMID:16758144 PMID:17576681 PMID:21699693 PMID:25326635 PMID:25741868 PMID:28306225 PMID:28492532 More...
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NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:21664999 PMID:25741868 PMID:28492532 PMID:33739556 PMID:34008892 |
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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G |
Slc39a13 |
solute carrier family 39 member 13 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.G74D (human) |
ClinVar CTD RGD |
PMID:18985159 PMID:25741868 PMID:28492532 PMID:18985159 PMID:18985159 |
RGD:11553861, RGD:11553861 |
NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
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G |
Smad3 |
SMAD family member 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:15350224 PMID:21217753 PMID:22167769 PMID:23554019 PMID:24033266 PMID:25644172 PMID:25741868 PMID:25944730 PMID:28185953 PMID:28492532 PMID:29392890 PMID:29510914 PMID:29717556 PMID:30661052 PMID:30787465 PMID:32154675 More...
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NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:24399159 |
RGD:11073604 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfb2 |
transforming growth factor, beta 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:22772371 PMID:24465802 PMID:25741868 PMID:26017485 PMID:28139901 PMID:28492532 PMID:28633253 PMID:28655553 PMID:29543232 More...
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:16928994 PMID:18781618 PMID:20332227 PMID:24033266 PMID:24055113 PMID:25116393 PMID:25260786 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25907466 PMID:25985138 PMID:26017485 PMID:27011056 PMID:27153395 PMID:28492532 PMID:28655553 More...
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NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:8246946 PMID:9395234 PMID:9590282 PMID:11212236 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17344846 PMID:17935258 PMID:18781618 PMID:21251594 PMID:21524434 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24941995 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:27930701 PMID:28492532 PMID:32560555 More...
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NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar RGD |
PMID:11642233 PMID:15733269 PMID:20649799 PMID:20853426 PMID:23555315 PMID:23620400 PMID:24033266 PMID:24088041 PMID:25047945 PMID:25326637 PMID:25333069 PMID:25741868 PMID:26075496 PMID:26257771 PMID:26275793 PMID:26408188 PMID:26633545 PMID:26662719 PMID:29590070 PMID:30975432 PMID:31141158 PMID:31702543 PMID:32164334 PMID:32214361 PMID:11642233 More...
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RGD:1599494 |
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G |
Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:24082139 PMID:24895405 PMID:25097247 PMID:25564447 PMID:25741868 PMID:28377322 PMID:28484309 PMID:28492532 PMID:28622062 PMID:29228253 PMID:31107761 PMID:32671420 PMID:33739556 PMID:33816482 PMID:34368841 More...
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NCBI chr19:50,282,434...50,324,010
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: EDS VII, MUTANT PROCOLLAGEN TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 |
ClinVar OMIM RGD |
PMID:2037280 PMID:2542316 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16474405 PMID:16773572 PMID:16786509 PMID:16879195 PMID:17056636 PMID:17078022 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:20696291 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23587214 PMID:23692737 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24390061 PMID:24668929 PMID:24767406 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:27011056 PMID:27044453 PMID:27132807 PMID:27146342 PMID:27509835 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 PMID:31584903 PMID:32166892 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 PMID:9295084 More...
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RGD:734803 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 |
ClinVar |
PMID:25441681 PMID:25741868 PMID:28492532 |
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 |
ClinVar |
PMID:9536098 PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 PMID:17576681 PMID:19019335 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:24033266 PMID:24685354 PMID:24951259 PMID:25741868 PMID:26608033 PMID:26854089 PMID:27011056 PMID:28166811 PMID:28492532 PMID:29924831 PMID:30858776 More...
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28087566 PMID:28492532 PMID:30467950 PMID:33161638 More...
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NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 |
ClinVar |
PMID:25741868 PMID:25944380 PMID:28492532 PMID:32581362 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 |
OMIM ClinVar |
PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 PMID:2454224 PMID:2777808 PMID:2985635 PMID:2993307 PMID:3621666 PMID:3680255 PMID:3733683 PMID:4742738 PMID:6773953 PMID:7695699 PMID:7860070 PMID:7864655 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8456808 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9536098 PMID:9594376 PMID:9923651 PMID:10976985 PMID:11317364 PMID:15172002 PMID:16705691 PMID:16786509 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18996919 PMID:19344236 PMID:21520333 PMID:21884818 PMID:22589248 PMID:23158907 PMID:24033266 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27011056 PMID:27056980 PMID:27519266 PMID:28017821 PMID:28346524 PMID:28492532 PMID:29150909 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30984112 PMID:31319225 PMID:32659730 More...
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Alb |
albumin |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type |
ClinVar |
PMID:2404284 PMID:8347685 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type |
ClinVar |
PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 PMID:3082886 PMID:6462220 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16474405 PMID:16773572 PMID:16786509 PMID:16879195 PMID:17056636 PMID:17078022 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18409203 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:20696291 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23587214 PMID:23692737 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24390061 PMID:24668929 PMID:24767406 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:27011056 PMID:27044453 PMID:27060301 PMID:27132807 PMID:27146342 PMID:27509835 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 PMID:31584903 PMID:32166892 PMID:32235935 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 More...
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | 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 |
OMIM ClinVar CTD |
PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:9016532 PMID:9272740 PMID:9295084 PMID:9536098 PMID:9594376 PMID:15077201 PMID:16705691 PMID:16786509 PMID:16816023 PMID:17078022 PMID:17576681 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25441681 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26307460 PMID:26371943 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27519266 PMID:28492532 PMID:29150909 PMID:30821104 PMID:32659730 More...
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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G |
Adamtsl2 |
ADAMTS-like 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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G |
Aebp1 |
AE binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:25741868 PMID:30759870 |
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NCBI chr14:80,738,800...80,748,878
Ensembl chr14:80,738,892...80,748,877
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G |
Ak8 |
adenylate kinase 8 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465
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G |
Barhl1 |
BarH-like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649
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G |
Brd3 |
bromodomain containing 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577
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G |
Cacfd1 |
calcium channel flower domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,335,881...10,352,437
Ensembl chr 3:10,335,881...10,343,406
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G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072
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G |
Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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G |
Casd1 |
CAS1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 4:32,658,888...32,739,224
Ensembl chr 4:32,658,748...32,739,202
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G |
Cel |
carboxyl ester lipase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
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G |
Cfap77 |
cilia and flagella associated protein 77 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,258,453...12,381,319
Ensembl chr 3:12,258,453...12,381,319
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
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, type 1 |
ClinVar |
PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532 More...
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC 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, type 1 ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | 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, type 1 |
ClinVar |
PMID:458828 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2052622 PMID:2454224 PMID:2777808 PMID:2824475 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3680255 PMID:4742738 PMID:6092353 PMID:6773953 PMID:7693712 PMID:7695699 PMID:7749416 PMID:7860070 PMID:7891382 PMID:8071956 PMID:8081389 PMID:8081394 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:9016532 PMID:9099837 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651 PMID:10027910 PMID:11288717 PMID:11317364 PMID:11359465 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:19594296 PMID:21344539 PMID:21520333 PMID:21667357 PMID:21801164 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 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:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26551090 PMID:26604951 PMID:26627451 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:28346524 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29595812 PMID:29620724 PMID:29656858 PMID:29807018 PMID:29947050 PMID:30152103 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30886339 PMID:31039433 PMID:31141158 PMID:31363794 PMID:31414283 PMID:31566912 PMID:31794058 PMID:32659730 PMID:32667677 More...
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Col3a1 |
collagen type III alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 |
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NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | 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, type 1 ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC 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, type 1 |
CTD ClinVar OMIM |
PMID:7695699 PMID:8218237 PMID:8575750 PMID:8752669 PMID:8923000 PMID:8950675 PMID:9042913 PMID:9536098 PMID:9683580 PMID:10471441 PMID:10602121 PMID:10777716 PMID:10796876 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15264295 PMID:15580559 PMID:16199547 PMID:16751282 PMID:17576681 PMID:18972565 PMID:19011090 PMID:19019335 PMID:19344236 PMID:19370768 PMID:20301422 PMID:20635400 PMID:20979576 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24088041 PMID:24685354 PMID:24951259 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26608033 PMID:26633545 PMID:26854089 PMID:27011056 PMID:27959697 PMID:27975164 PMID:28166811 PMID:28454995 PMID:28492532 PMID:28550590 PMID:28748566 PMID:29578302 PMID:29924831 PMID:30467950 PMID:30858776 PMID:31064749 PMID:31141158 PMID:31625567 PMID:31903434 PMID:32581362 PMID:32720758 PMID:32766464 PMID:32938213 PMID:33161638 PMID:33206719 PMID:35723357 More...
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISS ISO |
OMIM:130000 ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | 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, type 1 |
MouseDO ClinVar |
PMID:2855059 PMID:9425231 PMID:9536098 PMID:9783710 PMID:11940702 PMID:15580559 PMID:16199547 PMID:17576681 PMID:20301422 PMID:20648054 PMID:20847697 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24922459 PMID:25326637 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28166811 PMID:28213671 PMID:28492532 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:31829210 PMID:31847883 PMID:31903434 PMID:33161638 More...
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NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
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Dbh |
dopamine beta-hydroxylase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
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Ddx31 |
DEAD-box helicase 31 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,172,829...12,238,392
Ensembl chr 3:12,172,836...12,238,873
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Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551
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Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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Fam163b |
family with sequence similarity 163, member B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,437,383...10,466,458
Ensembl chr 3:10,437,383...10,466,458
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G |
Fcnb |
ficolin B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,393,771...11,402,198
Ensembl chr 3:11,393,739...11,402,151
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Gbgt1 |
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,826,131...11,829,745
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Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Glt6d1 |
glycosyltransferase 6 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335
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Gpsm1 |
G-protein signaling modulator 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
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Gtf3c4 |
general transcription factor IIIC subunit 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,154,803...12,172,795
Ensembl chr 3:12,154,805...12,172,725
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Gtf3c5 |
general transcription factor IIIC subunit 5 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,893,867...11,914,187
Ensembl chr 3:11,893,875...11,914,180
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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G |
Lcn1 |
lipocalin 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
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Lcn9 |
lipocalin 9 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200
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G |
Lhx3 |
LIM homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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G |
Lum |
lumican |
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ISS |
OMIM:130000 |
MouseDO |
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NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,404,622...66,427,772
Ensembl chr X:66,404,760...66,428,387
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G |
Med22 |
mediator complex subunit 22 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,233,754...10,238,836
Ensembl chr 3:10,233,754...10,238,836
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G |
Med27 |
mediator complex subunit 27 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,629,593...12,803,340
Ensembl chr 3:12,629,603...12,803,339
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G |
Mrps2 |
mitochondrial ribosomal protein S2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,801,310...11,806,341
Ensembl chr 3:11,801,310...11,806,313
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Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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G |
Mymk |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
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G |
Nacc2 |
NACC family member 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Ntng2 |
netrin G2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
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G |
Obp2a |
odorant binding protein 2A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,505,990...8,509,269
Ensembl chr 3:8,505,990...8,509,269
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G |
Obp2b |
odorant binding protein 2B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,582,074...8,585,258
Ensembl chr 3:8,582,074...8,585,258
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G |
Olfm1 |
olfactomedin 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239
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G |
Paep |
progestagen associated endometrial protein |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430
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G |
Pierce1 |
piercer of microtubule wall 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568
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G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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G |
Pomt1 |
protein-O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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G |
Ppp1r26 |
protein phosphatase 1, regulatory subunit 26 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073
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G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
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G |
Ralgds |
ral guanine nucleotide dissociation stimulator |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,839,686...11,880,059
Ensembl chr 3:11,839,416...11,880,059
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G |
Rapgef1 |
Rap guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984
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G |
Rexo4 |
REX4 homolog, 3'-5' exonuclease |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,280,654...10,291,003
Ensembl chr 3:10,280,654...10,290,996
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G |
Rnu6atac |
RNA, U6atac small nuclear |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 2:211,550,817...211,550,946
Ensembl chr 2:211,550,817...211,550,946
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G |
Rpl7a |
ribosomal protein L7A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,239,026...10,241,703
Ensembl chr 3:10,239,001...10,241,716
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G |
Rxra |
retinoid X receptor alpha |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
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G |
Sardh |
sarcosine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874
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G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
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G |
Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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G |
Sgce |
sarcoglycan, epsilon |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 4:32,771,477...32,842,238
Ensembl chr 4:32,771,477...32,842,254
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G |
Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
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NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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G |
Slc2a6 |
solute carrier family 2 member 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,348,395...10,355,208
Ensembl chr 3:10,348,395...10,355,208
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G |
Slc40a1 |
solute carrier family 40 member 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:20648054 PMID:23587214 PMID:28492532 |
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NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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G |
Spaca9 |
sperm acrosome associated 9 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119
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G |
Stkld1 |
serine/threonine kinase-like domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,261,583...10,280,850
Ensembl chr 3:10,261,828...10,280,566
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G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
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G |
Surf2 |
surfeit 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,244,654...10,248,502
Ensembl chr 3:10,244,654...10,250,077
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G |
Surf4 |
surfeit 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,248,360...10,261,537
Ensembl chr 3:10,241,837...10,263,315
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G |
Surf6 |
surfeit 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,221,450...10,232,306
Ensembl chr 3:10,221,452...10,232,251
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:30675029 |
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NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Tmem250 |
transmembrane protein 250 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
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G |
Tsc1 |
TSC complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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G |
Ttf1 |
transcription termination factor 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257
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G |
Ubac1 |
UBA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
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G |
Uck1 |
uridine-cytidine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,538,580...15,544,465
Ensembl chr 3:15,538,591...15,544,465
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G |
Vav2 |
vav guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,584,688...10,754,128
Ensembl chr 3:10,584,688...10,754,052
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G |
Wdr5 |
WD repeat domain 5 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,836,964...10,856,682
Ensembl chr 3:10,837,025...10,856,671
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G |
Wdr75 |
WD repeat domain 75 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:20648054 PMID:23587214 PMID:28492532 |
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NCBI chr 9:47,903,166...47,933,399
Ensembl chr 9:47,903,200...47,933,399
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 |
CTD ClinVar |
PMID:8752669 PMID:9042913 PMID:25741868 PMID:28492532 PMID:32720758 PMID:32938213 PMID:33161638 More...
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MILD CLASSIC TYPE | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 |
OMIM ClinVar |
PMID:2855059 PMID:9536098 PMID:11940702 PMID:17576681 PMID:20847697 PMID:22696272 PMID:23587214 PMID:24033266 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28492532 PMID:28550590 PMID:30467950 PMID:31829210 PMID:33161638 More...
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NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
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G |
Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency |
OMIM ClinVar |
PMID:1620134 PMID:9288108 PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 PMID:20649799 PMID:20853426 PMID:23284009 PMID:23555315 PMID:23620400 PMID:23768946 PMID:24033266 PMID:24088041 PMID:25333069 PMID:25741868 PMID:26075496 PMID:26257771 PMID:26408188 PMID:26633545 PMID:26662719 PMID:28344932 PMID:30115950 PMID:31141158 PMID:31702543 PMID:31731524 PMID:32164334 PMID:32214361 More...
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G |
Aebp1 |
AE binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2 |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29606302 PMID:30548383 More...
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NCBI chr14:80,738,800...80,748,878
Ensembl chr14:80,738,892...80,748,877
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G |
Adamts2 |
ADAM metallopeptidase with thrombospondin type 1 motif, 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type DNA:deletions: : |
OMIM ClinVar RGD |
PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 PMID:10417273 PMID:15373769 PMID:15389701 PMID:16199547 PMID:17576681 PMID:18973246 PMID:22863189 PMID:23495203 PMID:25640679 PMID:25741868 PMID:28346524 PMID:28492532 PMID:29843651 PMID:15373769 More...
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RGD:1598738 |
NCBI chr10:34,920,996...35,126,465
Ensembl chr10:34,921,049...35,123,821
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G |
Canx |
calnexin |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
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NCBI chr10:34,623,865...34,656,866
Ensembl chr10:34,625,191...34,656,821
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G |
Cby3 |
chibby family member 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
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NCBI chr10:34,680,926...34,683,176
Ensembl chr10:34,677,770...34,682,784
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G |
Grm6 |
glutamate metabotropic receptor 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
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NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
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G |
Hnrnph1 |
heterogeneous nuclear ribonucleoprotein H1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
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NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
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G |
Ltc4s |
leukotriene C4 synthase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
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NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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G |
Maml1 |
mastermind-like transcriptional coactivator 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
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NCBI chr10:34,588,639...34,624,298
Ensembl chr10:34,588,646...34,623,338
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G |
Mgat4b |
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
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NCBI chr10:34,548,918...34,559,229
Ensembl chr10:34,549,433...34,559,229
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G |
Rufy1 |
RUN and FYVE domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
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NCBI chr10:34,705,741...34,750,644
Ensembl chr10:34,705,741...34,750,644
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G |
Spata31d1c |
spermatogenesis associated 31 subfamily D, member 1C |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
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NCBI chr17:160,144...164,208
Ensembl chr17:159,398...164,270
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G |
Sqstm1 |
sequestosome 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
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NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673
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G |
Zfp354c |
zinc finger protein 354C |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
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NCBI chr10:35,129,720...35,145,717
Ensembl chr10:35,132,959...35,145,661
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G |
Zfp879 |
zinc finger protein 879 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
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NCBI chr10:35,148,679...35,158,674
Ensembl chr10:35,148,679...35,158,674
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G |
Col3a1 |
collagen type III alpha 1 chain |
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ISO |
DNA:missense mutation: :p.G637S (2512G>A) (human) ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type |
ClinVar RGD |
PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 PMID:29590070 PMID:30087447 PMID:31075413 PMID:31531849 PMID:7833919 More...
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RGD:11041770 |
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 |
ClinVar |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 |
ClinVar |
PMID:25326637 PMID:25741868 |
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G |
Kiaa2013 |
KIAA2013 homolog |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195
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G |
Mfn2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient |
ClinVar |
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NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Nppa |
natriuretic peptide A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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G |
Nppb |
natriuretic peptide B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 | ClinVar Annotator: match by term: Nevo syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 PMID:4373475 PMID:5016372 PMID:6089551 PMID:7977351 PMID:8163671 PMID:8449506 PMID:8533783 PMID:8574422 PMID:8981946 PMID:9152832 PMID:9220536 PMID:9450904 PMID:9536098 PMID:9617436 PMID:9893157 PMID:10329027 PMID:10502784 PMID:10686424 PMID:10874315 PMID:11001813 PMID:14565595 PMID:15666309 PMID:16199547 PMID:16758144 PMID:17576681 PMID:19320026 PMID:21699693 PMID:22001912 PMID:25277362 PMID:25326635 PMID:25637337 PMID:25640679 PMID:25741868 PMID:28306225 PMID:28384719 PMID:28492532 More...
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NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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G |
Aqp1 |
aquaporin 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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G |
Fkbp14 |
FKBP prolyl isomerase 14 |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 More...
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NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
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G |
Gars1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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G |
Ggct |
gamma-glutamyl cyclotransferase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,122,921...84,129,327
Ensembl chr 4:84,123,118...84,129,277
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G |
Ghrhr |
growth hormone releasing hormone receptor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,498,159...84,532,847
Ensembl chr 4:84,500,212...84,532,776
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G |
Inmt |
indolethylamine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,318,197...84,322,493
Ensembl chr 4:84,318,197...84,322,493
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G |
Mindy4 |
MINDY lysine 48 deubiquitinase 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,358,660...84,469,189
Ensembl chr 4:84,358,902...84,463,395
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G |
Mturn |
maturin, neural progenitor differentiation regulator homolog |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:83,807,528...83,828,494
Ensembl chr 4:83,807,579...83,824,950
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G |
Nod1 |
nucleotide-binding oligomerization domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
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G |
Plekha8 |
pleckstrin homology domain containing A8 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:83,723,470...83,774,081
Ensembl chr 4:83,723,561...83,774,081
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G |
Znrf2 |
zinc and ring finger 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:83,950,406...84,032,676
Ensembl chr 4:83,949,309...84,027,818
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1 DNA:frameshift mutations, missense mutations:CDS:multiple (human) DNA:missense mutations, deletion:CDS:multiple (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:1184396 PMID:2202212 PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:22581468 PMID:25188385 PMID:25348902 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 PMID:28306225 PMID:28346368 PMID:28492532 PMID:31905796 PMID:32214361 PMID:32629534 PMID:26373698 PMID:20004762 More...
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RGD:11061906, RGD:155663488 |
NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
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G |
Dse |
dermatan sulfate epimerase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 |
OMIM ClinVar |
PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 |
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NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 |
OMIM ClinVar |
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 PMID:27663155 PMID:27745832 PMID:33268848 PMID:34324282 More...
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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G |
C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 |
ClinVar |
PMID:27745832 |
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NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 |
ClinVar |
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:27663155 PMID:27745832 More...
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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G |
C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 |
OMIM ClinVar |
PMID:25741868 PMID:27745832 PMID:28492532 |
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NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 |
OMIM ClinVar |
PMID:1221956 PMID:1640425 PMID:9536098 PMID:15211654 PMID:17576681 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:31278392 PMID:31614862 More...
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NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
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G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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G |
Actrt2 |
actin-related protein T2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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G |
Agrn |
agrin |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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G |
Ankrd65 |
ankyrin repeat domain 65 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
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G |
Atad3a |
ATPase family, AAA domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
OMIM ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:23664117 PMID:24766538 PMID:25149931 PMID:25741868 PMID:27023906 PMID:28229453 PMID:28492532 PMID:28649518 PMID:29230159 PMID:29443383 PMID:29620724 PMID:29931299 PMID:31674007 More...
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NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:1221956 PMID:1640425 PMID:3631078 PMID:9536098 PMID:10473568 PMID:10506123 PMID:15211654 PMID:17576681 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:28882145 PMID:30914273 PMID:31278392 PMID:31614862 PMID:32429945 More...
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NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
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C1qtnf12 |
C1q and TNF related 12 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
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C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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Ccdc27 |
coiled-coil domain containing 27 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
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Ccnl2 |
cyclin L2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
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Cdk11b |
cyclin-dependent kinase 11B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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Cep104 |
centrosomal protein 104 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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Cfap74 |
cilia and flagella associated protein 74 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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Cptp |
ceramide-1-phosphate transfer protein |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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Dbn1 |
drebrin 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984
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Ddx41 |
DEAD-box helicase 41 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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Dok3 |
docking protein 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,109,633...9,115,188
Ensembl chr17:9,109,597...9,115,188
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Dvl1 |
dishevelled segment polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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Eif4e1b |
eukaryotic translation initiation factor 4E family member 1B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,831,338...9,856,250
Ensembl chr17:9,832,230...9,835,137
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F12 |
coagulation factor XII |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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Faap20 |
FA core complex associated protein 20 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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Fam193b |
family with sequence similarity 193, member B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,066,818...9,099,511
Ensembl chr17:9,066,707...9,099,508
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Fgfr4 |
fibroblast growth factor receptor 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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Fndc10 |
fibronectin type III domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
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Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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Gnb1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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Grk6 |
G protein-coupled receptor kinase 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,177,018...9,192,644
Ensembl chr17:9,177,019...9,192,644
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Hes5 |
hes family bHLH transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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Hk3 |
hexokinase 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863
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Ints11 |
integrator complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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Isg15 |
ISG15 ubiquitin-like modifier |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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G |
Klhl17 |
kelch-like family member 17 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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Lman2 |
lectin, mannose-binding 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265
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Lrrc47 |
leucine rich repeat containing 47 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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G |
Megf6 |
multiple EGF-like-domains 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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Mib2 |
MIB E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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Mir200a |
microRNA 200a |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,648,494...166,648,582
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Mir200b |
microRNA 200b |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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Mir429 |
microRNA 429 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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G |
Mmp23 |
matrix metallopeptidase 23 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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G |
Morn1 |
MORN repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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Mrpl20 |
mitochondrial ribosomal protein L20 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
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G |
Mxd3 |
Max dimerization protein 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157
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Mxra8 |
matrix remodeling associated 8 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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Nadk |
NAD kinase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
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Noc2l |
NOC2-like nucleolar associated transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,820,075...166,831,951
Ensembl chr 5:166,820,161...166,831,949
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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G |
Pank4 |
pantothenate kinase 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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G |
Pdlim7 |
PDZ and LIM domain 7 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,124,565...9,139,814
Ensembl chr17:9,124,649...9,139,811
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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G |
Pfn3 |
profilin 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,217,595...9,218,122
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G |
Plch2 |
phospholipase C, eta 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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G |
Plekhn1 |
pleckstrin homology domain containing N1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
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G |
Prdm16 |
PR/SET domain 16 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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Prelid1 |
PRELI domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407
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G |
Prkcz |
protein kinase C, zeta |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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G |
Prop1 |
PROP paired-like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434
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G |
Prr7 |
proline rich 7 (synaptic) |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,164,375...9,173,669
Ensembl chr17:9,165,269...9,172,536
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G |
Prxl2b |
peroxiredoxin like 2B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,462,610...165,465,213
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G |
Pusl1 |
pseudouridine synthase like 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
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G |
Rab24 |
RAB24, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,308,363...9,310,568
Ensembl chr17:9,308,525...9,310,553
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G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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G |
Rgs14 |
regulator of G-protein signaling 14 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,248,982...9,263,104
Ensembl chr17:9,249,019...9,263,104
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G |
Rnf223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,720,408...166,726,236
Ensembl chr 5:166,724,984...166,725,751
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Samd11 |
sterile alpha motif domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,831,663...166,859,805
Ensembl chr 5:166,831,663...166,850,009
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Sdf4 |
stromal cell derived factor 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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Ski |
Ski proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Slc35e2b |
solute carrier family 35, member E2B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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G |
Smim1 |
small integral membrane protein 1 (Vel blood group) |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,579,327...164,584,650
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Sncb |
synuclein, beta |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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Tas1r3 |
taste 1 receptor member 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
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Tmed9 |
transmembrane p24 trafficking protein 9 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,029,646...9,034,160
Ensembl chr17:9,029,646...9,034,176
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Tmem240 |
transmembrane protein 240 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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Tmem52 |
transmembrane protein 52 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
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Tmem88b |
transmembrane protein 88B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
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Tnfrsf14 |
TNF receptor superfamily member 14 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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Tnfrsf18 |
TNF receptor superfamily member 18 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Tnfrsf4 |
TNF receptor superfamily member 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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Tp73 |
tumor protein p73 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Tprg1l |
tumor protein p63 regulated 1-like |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
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Tspan17 |
tetraspanin 17 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,819,212...9,826,851
Ensembl chr17:9,819,202...9,826,834
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Ttc34 |
tetratricopeptide repeat domain 34 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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Ttll10 |
tubulin tyrosine ligase like 10 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
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Uimc1 |
ubiquitin interaction motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,523,793...9,592,810
Ensembl chr17:9,527,794...9,592,799
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Unc5a |
unc-5 netrin receptor A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,614,841...9,670,558
Ensembl chr17:9,614,838...9,670,526
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Vwa1 |
von Willebrand factor A domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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Wrap73 |
WD repeat containing, antisense to TP73 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
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Zfp346 |
zinc finger protein 346 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,493,789...9,523,681
Ensembl chr17:9,493,803...9,523,635
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Slc39a13 |
solute carrier family 39 member 13 |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like DNA:deletion:cds:c.483_491del9 (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 PMID:25007800 PMID:25741868 PMID:28492532 PMID:18513683 More...
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RGD:11553863 |
NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
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Col3a1 |
collagen type III alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
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:7665911 PMID:7695699 PMID:7749417 PMID:7912131 PMID:8098182 PMID:8218237 PMID:8320698 PMID:8477261 PMID:8514866 PMID:8664902 PMID:8680408 PMID:8881656 PMID:8990011 PMID:9036918 PMID:9143932 PMID:9147870 PMID:9399899 PMID:9536098 PMID:9546243 PMID:9841712 PMID:10051163 PMID:10706896 PMID:10923041 PMID:10928898 PMID:11359405 PMID:11577371 PMID:12131463 PMID:12488462 PMID:12694234 PMID:12786757 PMID:16199547 PMID:16751282 PMID:17053184 PMID:17122455 PMID:17251678 PMID:17576681 PMID:18043893 PMID:18272325 PMID:19011090 PMID:19344236 PMID:19424605 PMID:19444361 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:22065459 PMID:22492385 PMID:22647446 PMID:22696272 PMID:22713205 PMID:23148498 PMID:23234825 PMID:23293852 PMID:23587214 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24650746 PMID:24922459 PMID:24951259 PMID:25149929 PMID:25205403 PMID:25326637 PMID:25503501 PMID:25525159 PMID:25637381 PMID:25640679 PMID:25644172 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25848751 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26333736 PMID:26854089 PMID:27011056 PMID:27153395 PMID:27168972 PMID:27488172 PMID:27888582 PMID:27964749 PMID:28035354 PMID:28087566 PMID:28166811 PMID:28258187 PMID:28349240 PMID:28492532 PMID:28742248 PMID:28748566 PMID:29192238 PMID:29309923 PMID:29346445 PMID:29510914 PMID:29590070 PMID:29650765 PMID:29778910 PMID:29940997 PMID:30087447 PMID:30115950 PMID:30122538 PMID:30129429 PMID:30374176 PMID:30379966 PMID:30474650 PMID:30675029 PMID:30793832 PMID:30919682 PMID:30999998 PMID:31075413 PMID:31126764 PMID:31141158 PMID:31531849 PMID:31600821 PMID:31719132 PMID:31903434 PMID:32483363 PMID:33087929 PMID:33282382 More...
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NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 |
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NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
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G |
Slc40a1 |
solute carrier family 40 member 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:20648054 PMID:23587214 PMID:28492532 |
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NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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G |
Wdr75 |
WD repeat domain 75 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:20648054 PMID:23587214 PMID:28492532 |
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NCBI chr 9:47,903,166...47,933,399
Ensembl chr 9:47,903,200...47,933,399
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Col7a1 |
collagen type VII alpha 1 chain |
susceptibility |
ISO |
DNA:insertion-deletion ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease |
ClinVar OMIM RGD |
PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8037207 PMID:8088783 PMID:8218237 PMID:8345225 PMID:8618004 PMID:8618018 PMID:8618021 PMID:8644729 PMID:8644730 PMID:8755915 PMID:8900535 PMID:9042157 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9536098 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:10944088 PMID:10980546 PMID:11167698 PMID:11710955 PMID:11781296 PMID:11843659 PMID:11874498 PMID:12207583 PMID:12485454 PMID:12653705 PMID:12735646 PMID:12787275 PMID:12813757 PMID:15550148 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16439963 PMID:16484981 PMID:16500083 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17495952 PMID:17501948 PMID:17576681 PMID:17916216 PMID:18030675 PMID:18414213 PMID:18429782 PMID:18440202 PMID:18450758 PMID:18558993 PMID:18565177 PMID:18951764 PMID:19344236 PMID:19439919 PMID:19665875 PMID:19681861 PMID:19694003 PMID:19694005 PMID:19726672 PMID:19814614 PMID:20108398 PMID:20108428 PMID:20184583 PMID:20357813 PMID:20585476 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22070715 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24252097 PMID:24279917 PMID:24577406 PMID:24794830 PMID:24831336 PMID:24947307 PMID:25155989 PMID:25525159 PMID:25556825 PMID:25741868 PMID:25819062 PMID:25913354 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27544590 PMID:27746867 PMID:27899325 PMID:28492532 PMID:28830826 PMID:28853495 PMID:29130490 PMID:29334134 PMID:29427316 PMID:29473190 PMID:30280950 PMID:31001817 PMID:31090061 PMID:31930626 PMID:32860008 PMID:35979658 PMID:8275094 More...
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RGD:1600946 |
NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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Igfbp3 |
insulin-like growth factor binding protein 3 |
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ISO |
mRNA,protein:decreased expression:skin: |
RGD |
PMID:15140235 |
RGD:12743601 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Mir711 |
microRNA 711 |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:109,621,975...109,622,042
Ensembl chr 8:109,621,975...109,622,042
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G |
Mmp1 |
matrix metallopeptidase 1 |
severity |
ISO |
DNA:insertion:promoter:g.-1607_-1606insG (human) |
OMIM RGD |
PMID:18030675 |
RGD:8549728 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant |
ClinVar |
PMID:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332 PMID:10408773 PMID:10504458 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16271705 PMID:16484981 PMID:16965329 PMID:16971478 PMID:17576681 PMID:18565177 PMID:19344236 PMID:19681861 PMID:20598510 PMID:22058051 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31001817 PMID:31930626 PMID:35979658 More...
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NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:8755915 PMID:9182828 PMID:9242516 PMID:9326325 PMID:9718359 PMID:9856844 PMID:9881948 PMID:10367729 PMID:10383749 PMID:10408773 PMID:10504458 PMID:10836608 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16199547 PMID:16271705 PMID:16965329 PMID:16971478 PMID:17434045 PMID:18429782 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20598510 PMID:21448560 PMID:22058051 PMID:22209565 PMID:22266148 PMID:24033266 PMID:25741868 PMID:26076072 PMID:26148662 PMID:26467025 PMID:27899325 PMID:28492532 PMID:28830826 PMID:30280950 PMID:32484238 PMID:32860008 PMID:35979658 More...
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NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE |
OMIM ClinVar |
PMID:2425097 PMID:5910871 PMID:7695699 PMID:8218237 PMID:8618021 PMID:8755915 PMID:9881948 PMID:10408773 PMID:10836608 PMID:11710955 PMID:11781296 PMID:11843659 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16965329 PMID:16971478 PMID:18429782 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20598510 PMID:22058051 PMID:22266148 PMID:24033266 PMID:25741868 PMID:26076072 PMID:26148662 PMID:26467025 PMID:28492532 PMID:28830826 PMID:30280950 PMID:32860008 PMID:35979658 More...
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NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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G |
Lemd3 |
LEM domain containing 3 |
|
ISO |
DNA:transition mutation:intron: 1522+1G>A(human) |
RGD |
PMID:17223882 |
RGD:11553841 |
NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
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Ano5 |
anoctamin 5 |
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ISO |
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions DNA:missense mutations:exon:p.C356R, p.C356G (human) DNA:missense mutation:exon:p.T513I (c.1538C>T) (human) |
OMIM ClinVar RGD |
PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 PMID:16199547 PMID:17008331 PMID:17132147 PMID:17576681 PMID:18414213 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:23169617 PMID:23193613 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:25640679 PMID:25741868 PMID:25864073 PMID:25891276 PMID:26436962 PMID:26467025 PMID:26809617 PMID:26810512 PMID:26838040 PMID:26886200 PMID:26911675 PMID:27447704 PMID:27671536 PMID:27708273 PMID:27854218 PMID:27862037 PMID:27884173 PMID:27911336 PMID:28176803 PMID:28187523 PMID:28492532 PMID:28888072 PMID:29382405 PMID:29792937 PMID:30564623 PMID:30919934 PMID:31350120 PMID:31353849 PMID:31395899 PMID:31517061 PMID:31589614 PMID:31931849 PMID:32112655 PMID:32367299 PMID:32403337 PMID:32419263 PMID:32528171 PMID:32819793 PMID:34008892 PMID:35563815 PMID:15124103 PMID:23047743 More...
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RGD:11570566, RGD:11570556 |
NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
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Actrt2 |
actin-related protein T2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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G |
Agpat5 |
1-acylglycerol-3-phosphate O-acyltransferase 5 |
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ISO |
ClinVar Annotator: match by term: Keloid formation |
ClinVar |
PMID:28905881 |
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NCBI chr16:70,939,480...70,985,761
Ensembl chr16:70,943,135...70,985,560
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Arhgdia |
Rho GDP dissociation inhibitor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
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G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Keloid formation |
ClinVar |
PMID:28492532 PMID:28905881 |
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NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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G |
Aspn |
asporin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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G |
Capg |
capping actin protein, gelsolin like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 4:104,594,743...104,611,856
Ensembl chr 4:104,594,753...104,611,856
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G |
Clic1 |
chloride intracellular channel 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Crabp1 |
cellular retinoic acid binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360
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G |
Eif5a |
eukaryotic translation initiation factor 5A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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G |
Fgg |
fibrinogen gamma chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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G |
Foxl2 |
forkhead box L2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20711176 |
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NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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G |
Fth1 |
ferritin heavy chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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G |
Ftl1 |
ferritin light chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725 Ensembl chr10:95,936,387...95,939,725
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G |
Hbb-b1 |
hemoglobin, beta adult major chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012
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G |
Lgals1 |
galectin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
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G |
Mif |
macrophage migration inhibitory factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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G |
Mydgf |
myeloid-derived growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 9:999,659...1,008,895
Ensembl chr 9:1,000,722...1,008,822
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G |
Myl6b |
myosin light chain 6B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr X:40,572,012...40,572,991
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G |
Nedd4 |
NEDD4 E3 ubiquitin protein ligase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20711176 |
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NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951
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G |
Pfn1 |
profilin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
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G |
Prdx1 |
peroxiredoxin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 5:130,147,276...130,162,850
Ensembl chr 5:130,147,204...130,162,856
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G |
Prdx2 |
peroxiredoxin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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G |
Ran |
RAN, member RAS oncogene family |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr12:27,674,049...27,678,598
Ensembl chr12:27,674,050...27,678,276
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G |
S100a10 |
S100 calcium binding protein A10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
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G |
S100a4 |
S100 calcium-binding protein A4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
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G |
S100a8 |
S100 calcium binding protein A8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
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G |
S100a9 |
S100 calcium binding protein A9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
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G |
Serpinb5 |
serpin family B member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756
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G |
Serpinf1 |
serpin family F member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:skin of body (human) |
CTD RGD |
PMID:20128793 PMID:20128793 |
RGD:27226709 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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G |
Sfn |
stratifin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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Ensembl chr 5:145,826,201...145,831,314
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Tagln |
transgelin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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G |
Tpm1 |
tropomyosin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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G |
Tpsb2 |
tryptase beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
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NCBI chr10:14,381,779...14,383,571
Ensembl chr10:14,382,013...14,383,569
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Kniest dysplasia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:10406661 PMID:11297324 PMID:12995812 PMID:17078022 PMID:17347327 PMID:18272325 PMID:18276201 PMID:19344236 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26467025 PMID:28492532 PMID:29620724 PMID:30408610 More...
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NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Cav1 |
caveolin 1 |
susceptibility no_association |
ISO |
DNA:SNPs:enhancer, intron:multiple DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human) |
RGD |
PMID:22402147 PMID:22402147 |
RGD:8661768, RGD:8661768 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
mRNA,protein:increased expression:skin: |
RGD |
PMID:12925209 |
RGD:8661733 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
mRNA,protein:increased expression:skin: |
RGD |
PMID:12925209 |
RGD:8661733 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Fas |
Fas cell surface death receptor |
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ISO |
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RGD |
PMID:17102953 |
RGD:12903974 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
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ISO |
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RGD |
PMID:17102953 |
RGD:12903974 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
DNA:polymorphism::-384T>G(human) |
RGD |
PMID:17444587 |
RGD:4142872 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Jak2 |
Janus kinase 2 |
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ISO |
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RGD |
PMID:20808962 |
RGD:4892610 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kdr |
kinase insert domain receptor |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:19886888 |
RGD:8551850 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Pgf |
placental growth factor |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:22461185 |
RGD:6483571 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
mRNA,protein:increased expression:skin: |
RGD |
PMID:15730388 |
RGD:13208597 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Stat4 |
signal transducer and activator of transcription 4 |
no_association susceptibility |
ISO |
DNA:SNPs:introns: (rs10168266, rs3821236) (human) DNA:SNP:intron: (rs7574865) (human) |
RGD |
PMID:23755762 PMID:23755762 PMID:19286670 |
RGD:8661701, RGD:8661701, RGD:8661714 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tap2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
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RGD |
PMID:16112028 |
RGD:1578361 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
mRNA:increased expression:dermis |
RGD |
PMID:15727634 |
RGD:5688298 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
mRNA,protein:increased expression:skin: |
RGD |
PMID:15803328 |
RGD:8662838 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15863969 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Hgf |
hepatocyte growth factor |
treatment |
ISO |
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RGD |
PMID:14712301 |
RGD:8548627 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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G |
Icam1 |
intercellular adhesion molecule 1 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:7916356 |
RGD:8158116 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il13 |
interleukin 13 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12920362 |
RGD:8549537 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Lmna |
lamin A/C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15726408 |
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Mmp1 |
matrix metallopeptidase 1 |
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ISO |
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RGD |
PMID:9804345 |
RGD:1582543 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
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RGD |
PMID:7510487 |
RGD:7394847 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9843018 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Fas |
Fas cell surface death receptor |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:9182923 |
RGD:8662437 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fbn1 |
fibrillin 1 |
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ISO |
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RGD |
PMID:10395706 |
RGD:12910471 |
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Ifng |
interferon gamma |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:19684145 |
RGD:8142347 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
DNA:polymorphism:cds:HLA-DRB1*04 (human) |
RGD |
PMID:12559632 |
RGD:5147801 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Snrpb |
small nuclear ribonucleoprotein polypeptides B and B1 |
|
ISO |
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RGD |
PMID:2968364 |
RGD:10448928 |
NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
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Snrpc |
small nuclear ribonucleoprotein polypeptide C |
|
ISO |
associated with Hypertension, Pulmonary |
RGD |
PMID:10555891 |
RGD:10766447 |
NCBI chr20:5,888,453...5,906,638
Ensembl chr20:5,888,453...5,906,638
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G |
Tlr3 |
toll-like receptor 3 |
|
ISO |
|
RGD |
PMID:16453294 |
RGD:5129221 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:19684145 |
RGD:8142347 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Atp7a |
ATPase copper transporting alpha |
|
ISO |
ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: Occipital horn syndrome DNA:snp:intron:c.2553+3A>C (mouse) DNA:transversion:intron:g.IVS10+3A>T (human) |
OMIM ClinVar RGD |
PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:9880610 PMID:10739752 PMID:11241493 PMID:11431706 PMID:16199547 PMID:17108763 PMID:18414213 PMID:19153371 PMID:20170900 PMID:20652413 PMID:24033266 PMID:25741868 PMID:28492532 PMID:7887410 PMID:9467005 More...
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RGD:11340205, RGD:11252184 |
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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G |
Alpl |
alkaline phosphatase, biomineralization associated |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:1409720 PMID:8406453 PMID:8954059 PMID:9618260 PMID:9781036 PMID:9814472 PMID:10094560 PMID:10332035 PMID:10679946 PMID:10839996 PMID:11438998 PMID:11479741 PMID:11855933 PMID:12357339 PMID:12412800 PMID:12638946 PMID:15300736 PMID:15660230 PMID:15671102 PMID:15694177 PMID:16769381 PMID:17229666 PMID:17253930 PMID:17719863 PMID:18523927 PMID:18559907 PMID:18769927 PMID:19232125 PMID:19335222 PMID:19500388 PMID:20089612 PMID:20739387 PMID:21228398 PMID:21956185 PMID:22014174 PMID:22397652 PMID:22913777 PMID:22995991 PMID:23791648 PMID:24022022 PMID:24033266 PMID:24276437 PMID:24378058 PMID:24569605 PMID:25023282 PMID:25731960 PMID:25741868 PMID:26272126 PMID:26432670 PMID:26467025 PMID:26783040 PMID:27884173 PMID:27920814 PMID:28127875 PMID:28492530 PMID:28492532 PMID:28506345 PMID:28580391 PMID:28663156 PMID:29159075 PMID:29236161 PMID:29354166 PMID:30283912 PMID:30576866 PMID:31707452 PMID:32066479 PMID:32160374 More...
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NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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G |
Bmp1 |
bone morphogenetic protein 1 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776
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G |
Col1a1 |
collagen type I alpha 1 chain |
severity |
ISO |
ClinVar Annotator: match by term: Lobstein disease | 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: Osteogenesis imperfecta ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta DNA:mutation:splice junction:c.1875+1G>A (IVS 27+1G>A)(human) DNA:mutations:exons: c.97G > A,c.1209T > A,c.3702C > T(human) DNA:deletion: : DNA:mutation:exon:c.3235G>A(p.G1079S)(human) DNA:transition mutation:splice junction: DNA:transversion mutation:intron: CTD Direct Evidence: marker/mechanism DNA:snp:intron:c.3207+1G>A (human) |
ClinVar CTD RGD |
PMID:1137656 PMID:2037280 PMID:2542316 PMID:3722186 PMID:7691343 PMID:7695699 PMID:7881420 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8757037 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9101304 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:11704682 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15106082 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16474405 PMID:16705691 PMID:16773572 PMID:16786509 PMID:16879195 PMID:17056636 PMID:17078022 PMID:17206620 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:19751715 PMID:20301472 PMID:20696291 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22570641 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23443412 PMID:23529829 PMID:23587214 PMID:23692737 PMID:23729740 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24390061 PMID:24501682 PMID:24668929 PMID:24767406 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25597651 PMID:25741868 PMID:25742658 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26627451 PMID:26633542 PMID:26712438 PMID:27011056 PMID:27044453 PMID:27059743 PMID:27060301 PMID:27132807 PMID:27146342 PMID:27380894 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28102596 PMID:28116328 PMID:28166811 PMID:28378289 PMID:28436160 PMID:28492532 PMID:28498836 PMID:28725987 PMID:28748566 PMID:28810924 PMID:28991257 PMID:29150909 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30692697 PMID:30715774 PMID:30886339 PMID:31304589 PMID:31319225 PMID:31363794 PMID:31414283 PMID:31429852 PMID:31447884 PMID:31584903 PMID:31680973 PMID:32166892 PMID:32235935 PMID:32581362 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 PMID:34091789 PMID:34249109 PMID:34422331 PMID:34426522 PMID:35918752 PMID:9448299 PMID:18755172 PMID:21341209 PMID:21113976 PMID:23079818 PMID:24443344 PMID:18248096 PMID:22565191 More...
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RGD:734802, RGD:11667068, RGD:11667066, RGD:11667065, RGD:11571620, RGD:11571617, RGD:11571614, RGD:8552657 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO ISS |
DNA:snp:cds:p.G328S (human) ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild DNA:mutation:exon:c.87T > C(human) DNA:mutations, haplotype (human) DNA:deletion:exon:3983del (mouse) |
ClinVar MouseDO RGD |
PMID:458828 PMID:1978725 PMID:1990009 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:8829655 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651 PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:21344539 PMID:21520333 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23692737 PMID:23934635 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:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:28346524 PMID:28378289 PMID:28396251 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29595812 PMID:29656858 PMID:29947050 PMID:30152103 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31414283 PMID:31566912 PMID:31794058 PMID:32659730 PMID:32667677 PMID:16705691 PMID:21341209 PMID:2567784 PMID:8446583 More...
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RGD:1581197, RGD:11667066, RGD:734804, RGD:7248772 |
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Crtap |
cartilage associated protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta |
CTD ClinVar |
PMID:16199547 PMID:17055431 PMID:17192541 PMID:18566967 PMID:18996919 PMID:19550437 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:114,047,929...114,067,648
Ensembl chr 8:114,047,933...114,067,631
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G |
Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:9481655 PMID:9927692 PMID:20839288 PMID:22949511 PMID:25741868 PMID:26538303 PMID:28492532 PMID:30715774 More...
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NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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G |
Ifitm5 |
interferon induced transmembrane protein 5 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 PMID:28492532 PMID:31099171 PMID:31159867 PMID:32383316 More...
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NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232
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G |
Lrp5 |
LDL receptor related protein 5 |
treatment |
ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar RGD |
PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 PMID:15024691 PMID:15077203 PMID:15201508 PMID:15346351 PMID:15619672 PMID:15767861 PMID:15777745 PMID:15824851 PMID:15824861 PMID:15850991 PMID:15981244 PMID:16234968 PMID:16252235 PMID:16679074 PMID:17086708 PMID:17137849 PMID:17202888 PMID:17223614 PMID:17241106 PMID:17306638 PMID:17307038 PMID:17395706 PMID:17505772 PMID:17766366 PMID:18058054 PMID:18349089 PMID:18493104 PMID:18588671 PMID:18721193 PMID:18932002 PMID:19023643 PMID:24706814 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30452590 PMID:30894705 PMID:24677211 More...
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RGD:12792279 |
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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G |
Mbtps2 |
membrane-bound transcription factor peptidase, site 2 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:37,410,914...37,461,130
Ensembl chr X:37,410,811...37,464,430
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G |
P3h1 |
prolyl 3-hydroxylase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17277775 PMID:17576681 PMID:18566967 PMID:19088120 PMID:22281939 PMID:24498616 PMID:25741868 PMID:26634552 PMID:27509835 PMID:28492532 PMID:29150909 PMID:31319225 More...
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NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659
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G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29178448 PMID:32655337 More...
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NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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G |
Pls3 |
plastin 3 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:24088043 PMID:25741868 PMID:28492532 |
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NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891
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G |
Ppib |
peptidylprolyl isomerase B |
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ISO |
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:19781681 PMID:25741868 PMID:28492532 |
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NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428
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G |
Serpinf1 |
serpin family F member 1 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:25741868 PMID:28116328 PMID:28492532 PMID:29150909 PMID:29807018 PMID:30968248 PMID:32413570 PMID:33093841 More...
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NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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G |
Serpinh1 |
serpin family H member 1 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
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G |
Sftpc |
surfactant protein C |
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ISO |
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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G |
Smad4 |
SMAD family member 4 |
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ISS |
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MouseDO |
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NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Smpd3 |
sphingomyelin phosphodiesterase 3 |
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ISS |
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MouseDO |
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NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
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G |
Snx22 |
sorting nexin 22 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:19781681 PMID:25741868 PMID:28492532 |
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NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850
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G |
Sp7 |
Sp7 transcription factor |
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ISO |
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:133,484,609...133,494,788
Ensembl chr 7:133,484,609...133,494,847
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G |
Sparc |
secreted protein acidic and cysteine rich |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Osteogenesis imperfecta |
CTD ClinVar |
PMID:1793673 PMID:25741868 PMID:28492532 |
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NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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G |
Tmem38b |
transmembrane protein 38B |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:24835313 PMID:25741868 PMID:27441836 PMID:28492532 PMID:32123938 |
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NCBI chr 5:68,460,304...68,496,026
Ensembl chr 5:68,460,304...68,496,025
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G |
Wnt1 |
Wnt family member 1 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:25741868 PMID:27450065 PMID:28492532 PMID:28725987 PMID:29499418 PMID:30715774 PMID:30913006 PMID:33195954 More...
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NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651
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G |
Xylt2 |
xylosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta |
ClinVar |
PMID:16571645 PMID:25741868 PMID:28492532 |
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NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | 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 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
OMIM ClinVar |
PMID:1445258 PMID:1634225 PMID:1737847 PMID:1770532 PMID:1867198 PMID:1988452 PMID:2035536 PMID:2037280 PMID:2295701 PMID:2542316 PMID:2709835 PMID:2767050 PMID:2794057 PMID:3016737 PMID:3082886 PMID:3403550 PMID:6462220 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:8456808 PMID:8456809 PMID:8613526 PMID:8669434 PMID:8757037 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9101304 PMID:9295084 PMID:9443882 PMID:9536098 PMID:9600458 PMID:10408781 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:11826020 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15106082 PMID:15235039 PMID:15241796 PMID:15728585 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16474405 PMID:16638323 PMID:16705691 PMID:16773572 PMID:16786509 PMID:16879195 PMID:17056636 PMID:17078022 PMID:17206620 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 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:20696291 PMID:20981092 PMID:21239989 PMID:21249479 PMID:21344539 PMID:21520333 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22565191 PMID:22570641 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23054245 PMID:23079818 PMID:23265383 PMID:23443412 PMID:23529829 PMID:23587214 PMID:23692737 PMID:23729740 PMID:24088041 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24273577 PMID:24390061 PMID:24486247 PMID:24501682 PMID:24668929 PMID:24767406 PMID:24891183 PMID:25086671 PMID:25146735 PMID:25324685 PMID:25436829 PMID:25525159 PMID:25597651 PMID:25640679 PMID:25696019 PMID:25741868 PMID:25742658 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:27146342 PMID:27335225 PMID:27380894 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28102596 PMID:28116328 PMID:28166811 PMID:28173822 PMID:28326186 PMID:28378289 PMID:28436160 PMID:28492532 PMID:28498836 PMID:28528406 PMID:28725987 PMID:28748566 PMID:28810924 PMID:28991257 PMID:29150909 PMID:29432813 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29669177 PMID:29695797 PMID:29807018 PMID:29946973 PMID:30266093 PMID:30614853 PMID:30675999 PMID:30692697 PMID:30715774 PMID:30886339 PMID:31055083 PMID:31218168 PMID:31236376 PMID:31304589 PMID:31363794 PMID:31414283 PMID:31429852 PMID:31447884 PMID:31584903 PMID:31680973 PMID:31737030 PMID:31994750 PMID:32166892 PMID:32235935 PMID:32581362 PMID:32595695 PMID:32627857 PMID:32667677 PMID:32860008 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 PMID:34008892 PMID:34091789 PMID:34249109 PMID:34422331 PMID:34426522 PMID:35918752 More...
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth |
ClinVar |
PMID:458828 PMID:1642148 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2454224 PMID:2777808 PMID:2824475 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3680255 PMID:4742738 PMID:6092353 PMID:6773953 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:8829655 PMID:9016532 PMID:9099837 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651 PMID:10027910 PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:19594296 PMID:21344539 PMID:21520333 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23158907 PMID:23227268 PMID:23443412 PMID:23548243 PMID:23692737 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24342908 PMID:24501682 PMID:24668929 PMID:25146735 PMID:25289482 PMID:25326637 PMID:25441681 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:26627451 PMID:26788535 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27264419 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:28346524 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29499418 PMID:29595812 PMID:29656858 PMID:29669177 PMID:29947050 PMID:30152103 PMID:30283887 PMID:30311386 PMID:30715774 PMID:30821104 PMID:30886339 PMID:31039433 PMID:31141158 PMID:31363794 PMID:31414283 PMID:31447884 PMID:31566912 PMID:31794058 PMID:32659730 PMID:32667677 PMID:32770541 PMID:33070251 More...
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Itga3 |
integrin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:25944380 |
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NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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G |
Pdk2 |
pyruvate dehydrogenase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:25944380 |
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NCBI chr10:79,972,550...79,987,074
Ensembl chr10:79,972,556...79,987,085
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G |
Ppp1r9b |
protein phosphatase 1, regulatory subunit 9B |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:25944380 |
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NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
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G |
Samd14 |
sterile alpha motif domain containing 14 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:25944380 |
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NCBI chr10:79,957,111...79,972,347
Ensembl chr10:79,957,758...79,972,341
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G |
Sgca |
sarcoglycan, alpha |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type I |
ClinVar |
PMID:25944380 |
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NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813
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G |
Serpinh1 |
serpin family H member 1 |
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ISO |
ClinVar Annotator: match by term: OI, TYPE X | ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 |
OMIM ClinVar |
PMID:20188343 PMID:25510505 PMID:25741868 PMID:28492532 |
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NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
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G |
Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type 11 |
OMIM ClinVar |
PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:25741868 PMID:26538303 PMID:26639818 PMID:27362741 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 PMID:30715774 More...
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NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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G |
Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 |
ClinVar |
PMID:20362275 PMID:20839288 PMID:21567934 PMID:22107750 PMID:22689593 PMID:22949511 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 More...
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NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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Sp7 |
Sp7 transcription factor |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 |
OMIM ClinVar |
PMID:20579626 PMID:25741868 PMID:28492532 PMID:29382611 |
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NCBI chr 7:133,484,609...133,494,788
Ensembl chr 7:133,484,609...133,494,847
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G |
Bmp1 |
bone morphogenetic protein 1 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type 13 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii |
OMIM ClinVar |
PMID:15542026 PMID:22052668 PMID:22482805 PMID:24648371 PMID:25214535 PMID:25402547 PMID:25741868 PMID:28492532 More...
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NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776
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G |
Sftpc |
surfactant protein C |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii |
ClinVar |
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NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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G |
Tmem38b |
transmembrane protein 38B |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta type 14 |
OMIM ClinVar |
PMID:17611541 PMID:23054245 PMID:25741868 PMID:26911354 PMID:28492532 |
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NCBI chr 5:68,460,304...68,496,026
Ensembl chr 5:68,460,304...68,496,025
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