|
G |
Cldn14 |
claudin 14 |
|
ISO |
ClinVar Annotator: match by term: Alport syndrome |
ClinVar |
PMID:30311386 |
|
NCBI chr11:46,701,940...46,799,049
|
|
G |
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:2557550 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:9724608 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:12631109 PMID:14582039 PMID:14871398 PMID:15086897 PMID:15618242 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17576681 PMID:18385178 PMID:18436078 PMID:19525337 PMID:20301386 PMID:20847057 PMID:21157337 PMID:21862460 PMID:21897443 PMID:22887978 PMID:23297803 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24033287 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:26411580 PMID:26467025 PMID:26795916 PMID:26809805 PMID:26934356 PMID:26940125 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:28968992 PMID:29098738 PMID:29127259 PMID:29204651 PMID:29270492 PMID:29271581 PMID:29644057 PMID:29742505 PMID:29801666 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30076350 PMID:30245029 PMID:30295827 PMID:30311386 PMID:30406062 PMID:30450445 PMID:30476138 PMID:30487145 PMID:30506145 PMID:30586318 PMID:30647093 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30881523 PMID:30883042 PMID:31027891 PMID:31130284 PMID:31256874 PMID:31306228 PMID:31328266 PMID:31477057 PMID:31625567 PMID:31738409 PMID:31865346 PMID:32359821 PMID:32647767 PMID:32703181 PMID:32723786 PMID:32860008 PMID:32887937 PMID:32939031 PMID:33040356 PMID:33179747 PMID:33226606 PMID:33229591 PMID:33369211 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33774048 PMID:33838161 PMID:33854215 PMID:33980730 PMID:34013111 PMID:34215756 PMID:34400539 PMID:34426522 PMID:34440452 PMID:34662886 PMID:34746741 PMID:34906502 PMID:35090027 PMID:35102923 PMID:35177655 PMID:35301649 PMID:35325889 PMID:35369551 PMID:35372954 PMID:35386907 PMID:35880347 PMID:36013122 PMID:36100708 PMID:36117978 PMID:36130833 PMID:36134775 PMID:36292665 PMID:36925663 PMID:36938085 PMID:37097554 PMID:37362409 PMID:37849993 PMID:38214412 PMID:7987301 More...
|
RGD:1600924 |
NCBI chr 9:83,875,849...84,004,955
|
|
G |
Col4a4 |
collagen type IV alpha 4 chain |
|
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:3385421 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:16338941 PMID:16467446 PMID:17216251 PMID:17396119 PMID:17576681 PMID:17942953 PMID:19129241 PMID:19675380 PMID:20029656 PMID:20301386 PMID:21196518 PMID:21897443 PMID:22887978 PMID:23349334 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24046192 PMID:24052634 PMID:24130771 PMID:24472419 PMID:24522496 PMID:24633401 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25514610 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25755845 PMID:26346198 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27365461 PMID:27859054 PMID:27884173 PMID:28059119 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28542346 PMID:28632965 PMID:28658201 PMID:28704582 PMID:28780565 PMID:28844315 PMID:28968992 PMID:28976722 PMID:29098738 PMID:29204651 PMID:29496980 PMID:29801666 PMID:29854973 PMID:29907799 PMID:29924831 PMID:30076350 PMID:30406062 PMID:30450445 PMID:30506145 PMID:30586318 PMID:30647093 PMID:30745910 PMID:30808327 PMID:30883042 PMID:30968591 PMID:31019026 PMID:31049720 PMID:31246743 PMID:31328266 PMID:31387071 PMID:31408864 PMID:31589614 PMID:31922066 PMID:32332277 PMID:32604935 PMID:32703181 PMID:32939031 PMID:33048202 PMID:33095447 PMID:33233744 PMID:33532864 PMID:33772369 PMID:33838161 PMID:33854215 PMID:34400539 PMID:34448697 PMID:34584596 PMID:34625929 PMID:34746741 PMID:34993602 PMID:35064937 PMID:35090027 PMID:35114279 PMID:35121647 PMID:35368817 PMID:35369551 PMID:35419377 PMID:35478268 PMID:35759000 PMID:36130833 PMID:36161695 PMID:36239278 PMID:36349777 PMID:36370330 PMID:36646731 PMID:36685964 PMID:36699462 PMID:36758113 PMID:36925663 PMID:37097554 PMID:37147621 PMID:37895203 PMID:38317457 More...
|
|
NCBI chr 9:83,833,173...83,875,436
|
|
G |
Col4a5 |
collagen type IV alpha 5 chain |
|
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:8455372 PMID:8651292 PMID:8651296 PMID:8940267 PMID:9195222 PMID:9848783 PMID:10094548 PMID:10563487 PMID:10752524 PMID:11223851 PMID:12028435 PMID:12105244 PMID:12796257 PMID:14514738 PMID:15044104 PMID:15780079 PMID:15954103 PMID:17396119 PMID:18083113 PMID:18343956 PMID:19344236 PMID:19728970 PMID:19919694 PMID:19965530 PMID:20301386 PMID:20378821 PMID:21332469 PMID:21505094 PMID:21688191 PMID:23144074 PMID:23572034 PMID:23720012 PMID:24033287 PMID:24046192 PMID:24077912 PMID:24130771 PMID:24304881 PMID:24470729 PMID:24854265 PMID:25525159 PMID:25572247 PMID:25741868 PMID:26063487 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27627812 PMID:28492532 PMID:28542346 PMID:28844315 PMID:28864840 PMID:29127259 PMID:29142990 PMID:29526710 PMID:29854973 PMID:30348286 PMID:30577881 PMID:30586318 PMID:30647093 PMID:30655312 PMID:30661074 PMID:30691124 PMID:30773290 PMID:30968591 PMID:31850286 PMID:31922066 PMID:32359821 PMID:32405592 PMID:33040356 PMID:33226606 PMID:33233744 PMID:33309955 PMID:33532864 PMID:33854215 PMID:34008892 PMID:34440452 PMID:35022790 PMID:35643372 PMID:36685964 PMID:37464296 PMID:38680391 PMID:2349482 More...
|
RGD:1600687 |
NCBI chr X:109,907,251...110,111,214
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
|
RGD |
PMID:22937108 |
RGD:7175090 |
NCBI chr 3:137,030,200...137,036,581
|
|
G |
Mmp12 |
matrix metallopeptidase 12 |
|
ISO |
|
RGD |
PMID:16816359 |
RGD:7241212 |
NCBI chr 8:4,581,785...4,591,687
|
|
G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:16509766 |
RGD:7241252 |
NCBI chr 8:12,925,267...12,938,828
|
|
G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10973259 |
|
NCBI chr 7:111,224,291...111,304,963
|
|
G |
Myo15a |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Alport syndrome |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr10:45,776,907...45,835,473
|
|
G |
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
|
|
|
G |
Col4a3 |
collagen type IV alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT | 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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1400291 PMID:2557550 PMID:6138234 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:9724608 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15086897 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17576681 PMID:18436078 PMID:19525337 PMID:20301386 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:25381091 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:26138234 PMID:26277931 PMID:26346198 PMID:26411580 PMID:26467025 PMID:26633401 PMID:26795916 PMID:26809805 PMID:26920127 PMID:26934356 PMID:26940125 PMID:27281700 PMID:27391953 PMID:27485810 PMID:27627812 PMID:27796712 PMID:27859054 PMID:27904025 PMID:27932480 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28600779 PMID:28632965 PMID:28658201 PMID:28704582 PMID:28780565 PMID:28844315 PMID:29089023 PMID:29098738 PMID:29127259 PMID:29204651 PMID:29271581 PMID:29644057 PMID:29801666 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30295827 PMID:30311386 PMID:30406062 PMID:30450445 PMID:30476138 PMID:30487145 PMID:30506145 PMID:30586318 PMID:30647093 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30828794 PMID:30881523 PMID:31027891 PMID:31130284 PMID:31144478 PMID:31256874 PMID:31306228 PMID:31328266 PMID:31387071 PMID:31477057 PMID:31625567 PMID:31807928 PMID:31865346 PMID:32359821 PMID:32647767 PMID:32703181 PMID:32723786 PMID:32860008 PMID:32887937 PMID:32939031 PMID:33040356 PMID:33179747 PMID:33226606 PMID:33229591 PMID:33369211 PMID:33391746 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33774048 PMID:33838161 PMID:33851121 PMID:33854215 PMID:34013111 PMID:34113375 PMID:34120753 PMID:34215756 PMID:34400539 PMID:34426522 PMID:34440452 PMID:34662886 PMID:34906502 PMID:35090027 PMID:35177655 PMID:35301649 PMID:35325889 PMID:35369551 PMID:35372954 PMID:35386907 PMID:35485766 PMID:35880347 PMID:36013122 PMID:36100708 PMID:36117978 PMID:36130833 PMID:36134775 PMID:36292665 PMID:36925663 PMID:36938085 PMID:37097554 PMID:37362409 PMID:37849993 PMID:38214412 PMID:38262496 More...
|
|
NCBI chr 9:83,875,849...84,004,955
|
|
G |
Col4a4 |
collagen type IV alpha 4 chain |
|
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 |
ClinVar |
PMID:9536098 PMID:9792860 PMID:11375996 PMID:11961012 PMID:12028435 PMID:12631110 PMID:12748344 PMID:15618242 PMID:15954103 PMID:16199547 PMID:16467446 PMID:17216251 PMID:17576681 PMID:17942953 PMID:19129241 PMID:20301386 PMID:21196518 PMID:21897443 PMID:24033266 PMID:24046192 PMID:24052634 PMID:24633401 PMID:24854265 PMID:25307543 PMID:25525159 PMID:25596306 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27859054 PMID:28492532 PMID:28632965 PMID:28658201 PMID:28704582 PMID:28844315 PMID:29801666 PMID:29854973 PMID:29924831 PMID:30745910 PMID:31312213 PMID:31934206 PMID:33233744 PMID:33369211 PMID:33532864 PMID:33772369 PMID:33838161 PMID:33854215 PMID:34746741 PMID:35759000 PMID:36100708 More...
|
|
NCBI chr 9:83,833,173...83,875,436
|
|
G |
Col4a5 |
collagen type IV alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome |
ClinVar |
PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 PMID:9195222 PMID:9848783 PMID:10752524 PMID:11223851 PMID:12028435 PMID:14514738 PMID:16199547 PMID:19344236 PMID:19965530 PMID:21505094 PMID:23144074 PMID:23720012 PMID:24046192 PMID:24304881 PMID:24854265 PMID:25741868 PMID:26809805 PMID:27627812 PMID:28492532 PMID:30577881 PMID:30773290 PMID:33369211 More...
|
|
NCBI chr X:109,907,251...110,111,214
|
|
G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
DNA:missense mutation:exon:4270G>C,D1424H (human) |
RGD |
PMID:12500226 |
RGD:6902925 |
NCBI chr 7:111,224,291...111,304,963
|
|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1680286 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7738360 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8170945 PMID:8218237 PMID:8288900 PMID:8345225 PMID:8618004 PMID:8618021 PMID:8644729 PMID:8644730 PMID:8752681 PMID:8755915 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9536098 PMID:9666834 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9856843 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10232408 PMID:10233777 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:11710955 PMID:11781296 PMID:11874498 PMID:11952672 PMID:12207583 PMID:12485454 PMID:12735646 PMID:12787275 PMID:12813757 PMID:14616374 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16484981 PMID:16557343 PMID:16965329 PMID:16971468 PMID:16971478 PMID:17336503 PMID:17425959 PMID:17576681 PMID:17916216 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19197535 PMID:19269793 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21269315 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23397949 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24317394 PMID:24599399 PMID:24794830 PMID:24947307 PMID:25201089 PMID:25222259 PMID:25525159 PMID:25741868 PMID:26039182 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:29500833 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31709745 PMID:31930626 PMID:32383240 PMID:32506467 PMID:32860008 PMID:33587123 PMID:34435747 PMID:35979658 PMID:36287101 More...
|
|
NCBI chr 8:109,604,877...109,637,249
|
|
G |
Itgb4 |
integrin subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:101,705,592...101,741,933
|
|
G |
Krt14 |
keratin 14 |
|
ISO |
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:85,137,786...85,142,054
|
|
G |
Krt5 |
keratin 5 |
|
ISO |
ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa |
ClinVar |
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 PMID:16098032 PMID:16601668 PMID:16882168 PMID:20030639 PMID:20301543 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 PMID:30515866 PMID:31579952 More...
|
|
NCBI chr 7:132,846,132...132,851,861
|
|
|
G |
Cacna1d |
calcium voltage-gated channel subunit alpha1 D |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive Alport syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr16:5,227,157...5,521,163
|
|
G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:15716328 |
RGD:5688157 |
NCBI chr 8:123,556,286...123,561,841
|
|
G |
Col4a3 |
collagen type IV alpha 3 chain |
|
ISO ISS |
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome 3b, autosomal recessive | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome OMIM:203780 |
OMIM ClinVar MouseDO |
PMID:1400291 PMID:6138234 PMID:7633417 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:9647515 PMID:9724608 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17396119 PMID:17576681 PMID:18385178 PMID:18436078 PMID:19525337 PMID:21157337 PMID:21897443 PMID:22887978 PMID:23297803 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: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:26633401 PMID:26795916 PMID:26809805 PMID:26934356 PMID:26940125 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:29098738 PMID:29100090 PMID:29127259 PMID:29204651 PMID:29270492 PMID:29271581 PMID:29644057 PMID:29801666 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30311386 PMID:30406062 PMID:30476138 PMID:30487145 PMID:30586318 PMID:30647093 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30881523 PMID:31027891 PMID:31256874 PMID:31306228 PMID:31328266 PMID:31387071 PMID:31477057 PMID:31807928 PMID:31865346 PMID:31925849 PMID:32359821 PMID:32647767 PMID:32703181 PMID:32723786 PMID:32860008 PMID:32887937 PMID:32939031 PMID:33040356 PMID:33226606 PMID:33229591 PMID:33369211 PMID:33391746 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33774048 PMID:33838161 PMID:33851121 PMID:33854215 PMID:33980730 PMID:34013111 PMID:34120753 PMID:34215756 PMID:34400539 PMID:34426522 PMID:34662886 PMID:35090027 PMID:35102923 PMID:35177655 PMID:35301649 PMID:35325889 PMID:35369551 PMID:35372954 PMID:35386907 PMID:35485766 PMID:35497790 PMID:36013122 PMID:36117978 PMID:36134775 PMID:36292665 PMID:36925663 PMID:36938085 PMID:37097554 PMID:37362409 PMID:37849993 PMID:38214412 More...
|
|
NCBI chr 9:83,875,849...84,004,955
|
|
G |
Col4a4 |
collagen type IV alpha 4 chain |
|
ISO ISS |
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome OMIM:203780 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:3385421 PMID:7987396 PMID:8787673 PMID:9195222 PMID:9536098 PMID:9792860 PMID:11375996 PMID:11961012 PMID:12028435 PMID:12325029 PMID:12631110 PMID:12748344 PMID:14582039 PMID:15618242 PMID:15954103 PMID:16199547 PMID:16338941 PMID:16467446 PMID:17216251 PMID:17396119 PMID:17576681 PMID:17942953 PMID:19129241 PMID:19675380 PMID:20029656 PMID:20301386 PMID:21196518 PMID:21897443 PMID:22887978 PMID:23349334 PMID:23551117 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24046192 PMID:24052634 PMID:24398087 PMID:24472419 PMID:24522496 PMID:24633401 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25755845 PMID:26346198 PMID:26467025 PMID:26628290 PMID:26809805 PMID:26833262 PMID:26934356 PMID:27281700 PMID:27469977 PMID:27859054 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28542346 PMID:28632965 PMID:28658201 PMID:28704582 PMID:28844315 PMID:28968992 PMID:28976722 PMID:29098738 PMID:29204651 PMID:29496980 PMID:29801666 PMID:29854973 PMID:29873249 PMID:29907799 PMID:29924831 PMID:30076350 PMID:30406062 PMID:30450445 PMID:30506145 PMID:30586318 PMID:30647093 PMID:30745910 PMID:30883042 PMID:30968591 PMID:31019026 PMID:31049720 PMID:31246743 PMID:31308072 PMID:31312213 PMID:31328266 PMID:31408864 PMID:31589614 PMID:31677115 PMID:31922066 PMID:32332277 PMID:32604935 PMID:32647767 PMID:32703181 PMID:32723786 PMID:32939031 PMID:33048202 PMID:33095447 PMID:33233744 PMID:33369211 PMID:33532864 PMID:33712733 PMID:33772369 PMID:33838161 PMID:33854215 PMID:34400539 PMID:34584596 PMID:34625929 PMID:34746741 PMID:34762194 PMID:34993602 PMID:35064937 PMID:35114279 PMID:35325889 PMID:35369551 PMID:35419377 PMID:35478268 PMID:35759000 PMID:36100708 PMID:36130833 PMID:36239278 PMID:36349777 PMID:36370330 PMID:36646731 PMID:36699462 PMID:36758113 PMID:37097554 PMID:37147621 PMID:38317457 More...
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NCBI chr 9:83,833,173...83,875,436
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G |
Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive Alport syndrome |
ClinVar |
PMID:24033266 PMID:25741868 |
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NCBI chr15:31,260,390...31,278,222
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G |
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
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G |
Sec61a1 |
SEC61 translocon subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE |
ClinVar |
PMID:27392076 PMID:33185949 |
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NCBI chr 4:120,973,519...120,987,871
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G |
Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28518168 PMID:29228253 PMID:32461654 |
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NCBI chr19:50,282,337...50,324,010
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G |
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
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G |
Zfp469 |
zinc finger protein 469 |
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ISO ISS |
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 | ClinVar Annotator: match by term: ZNF469-related condition OMIM:229200 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:23642083 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 PMID:25564447 PMID:25741868 PMID:28377322 PMID:28484309 PMID:28492532 PMID:28518168 PMID:28622062 PMID:29228253 PMID:31107761 PMID:32461654 PMID:32671420 PMID:33739556 PMID:33747040 PMID:33816482 PMID:34368841 More...
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NCBI chr19:50,282,337...50,324,010
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 2 | ClinVar Annotator: match by term: PRDM5-related condition |
OMIM ClinVar |
PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 PMID:31829210 PMID:33739556 PMID:34008892 More...
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NCBI chr 4:95,075,736...95,237,921
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G |
Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome |
ClinVar |
PMID:16199547 PMID:22689593 PMID:22949511 PMID:25741868 PMID:28492532 PMID:32770541 More...
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NCBI chr10:85,345,434...85,357,998
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G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISO ISS |
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES OMIM:259450 | OMIM:609220 |
ClinVar MouseDO |
PMID:25086671 PMID:25741868 PMID:28492532 PMID:37076969 |
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NCBI chr 8:93,084,548...93,167,255
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G |
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 4:33,518,557...33,553,484
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G |
Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis-like disorder | ClinVar Annotator: match by term: Bruck syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9129737 PMID:9481655 PMID:9536098 PMID:9927692 PMID:17576681 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:29499418 PMID:29620724 PMID:30715774 More...
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NCBI chr10:85,345,434...85,357,998
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G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 2 | ClinVar Annotator: match by term: PLOD2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28116328 PMID:28492532 PMID:29177700 PMID:29178448 PMID:31472299 PMID:31785789 PMID:32612477 PMID:32655337 PMID:33664768 PMID:33778323 PMID:35278031 PMID:37076969 More...
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NCBI chr 8:93,084,548...93,167,255
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G |
P4hb |
prolyl 4-hydroxylase subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features | ClinVar Annotator: match by term: Cole-Carpenter syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:105,836,972...105,848,583
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G |
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 2:214,103,138...214,211,155
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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 | ClinVar Annotator: match by term: P4HB-related condition |
OMIM ClinVar |
PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 |
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NCBI chr10:105,836,972...105,848,583
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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 | ClinVar Annotator: match by term: SEC24D-related condition |
OMIM ClinVar |
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 PMID:30462379 More...
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NCBI chr 2:214,103,138...214,211,155
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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:1770532 PMID:2037280 PMID:2794057 PMID:2894346 PMID:7691343 PMID:7695699 PMID:7881420 PMID:7942841 PMID:8100856 PMID:8218237 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9101304 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:11113887 PMID:11317364 PMID:12362985 PMID:15024745 PMID:15241796 PMID:15728585 PMID:15741671 PMID:16199547 PMID:16407265 PMID:16786509 PMID:17078022 PMID:17206620 PMID:17211858 PMID:17392686 PMID:17576681 PMID:18272325 PMID:18798308 PMID:18996919 PMID:19344236 PMID:19491628 PMID:19637253 PMID:20981092 PMID:21594610 PMID:21667357 PMID:22206639 PMID:22565191 PMID:22589248 PMID:22753364 PMID:23265383 PMID:23587214 PMID:23692737 PMID:24486247 PMID:24668929 PMID:24767406 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:26627451 PMID:26799614 PMID:27044453 PMID:27132807 PMID:27146342 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28102596 PMID:28378289 PMID:28436160 PMID:28492532 PMID:28498836 PMID:28725987 PMID:29150909 PMID:29499418 PMID:29595812 PMID:30614853 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 PMID:32166892 PMID:34902613 More...
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NCBI chr10:80,380,458...80,397,461
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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:9536098 PMID:10027910 PMID:10694924 PMID:10982177 PMID:11288717 PMID:11317364 PMID:16705691 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18311573 PMID:18996919 PMID:19344236 PMID:21520333 PMID:21667357 PMID:22589248 PMID:22753364 PMID:23692737 PMID:25146735 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:27056980 PMID:27510842 PMID:28378289 PMID:28492532 PMID:29150909 PMID:30715774 PMID:30821104 PMID:31141158 PMID:31794058 PMID:34422331 More...
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NCBI chr 4:33,518,557...33,553,484
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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 chr14:22,342,910...22,401,522
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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
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
severity |
ISO |
protein:decreased expression:serum |
RGD |
PMID:21615510 |
RGD:8694418 |
NCBI chr11:91,226,524...91,240,244
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G |
Agt |
angiotensinogen |
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ISO |
protein:increased expression:serum |
RGD |
PMID:14730619 |
RGD:8548886 |
NCBI chr19:69,426,540...69,447,017
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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
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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 4:46,606,538...46,639,616
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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 chr14:17,310,790...17,312,250
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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 chr13:85,813,516...85,830,269
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G |
Il10 |
interleukin 10 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:9034992 |
RGD:5684371 |
NCBI chr13:45,024,921...45,029,586
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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 chr10:38,290,926...38,293,483
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G |
Il6 |
interleukin 6 |
treatment |
ISO |
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RGD |
PMID:20338043 |
RGD:12792275 |
NCBI chr 4:5,889,999...5,894,575
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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:156,919,927...156,929,825
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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 chr14:32,572,031...32,615,204
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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
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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
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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 chr20:4,658,171...4,668,543
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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
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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 5:66,449,348...66,506,371
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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 2:171,499,189...171,504,831
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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 chr16:65,466,552...65,602,951
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G |
Stat4 |
signal transducer and activator of transcription 4 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Disabling pansclerotic morphea of childhood |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:37256972 |
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NCBI chr 9:49,472,660...49,588,540
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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 chr10:34,920,992...35,126,465
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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:75,159,635...75,267,094
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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
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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
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:126,370,348...126,372,405
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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:2238087 PMID:7691343 PMID:7695699 PMID:8079666 PMID:8218237 PMID:8456808 PMID:8799376 PMID:9016532 PMID:9536098 PMID:10739762 PMID:11090261 PMID:11317364 PMID:11432962 PMID:15741671 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17211858 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:25983617 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26633542 PMID:27011056 PMID:27380894 PMID:27510842 PMID:27519266 PMID:28102596 PMID:28492532 PMID:28748566 PMID:29543232 PMID:29946973 PMID:30665703 PMID:30715774 PMID:30886339 PMID:31299979 PMID:31584903 PMID:32166892 PMID:32981126 PMID:33939306 PMID:34422331 PMID:34426522 PMID:35128800 PMID:24443344 More...
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RGD:11571617 |
NCBI chr10:80,380,458...80,397,461
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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:2993307 PMID:3049731 PMID:3372533 PMID:3383844 PMID:3621666 PMID:3733683 PMID:4795106 PMID:6092353 PMID:7695699 PMID:7864655 PMID:8218237 PMID:8829649 PMID:9016532 PMID:9272740 PMID:9536098 PMID:11288717 PMID:15077201 PMID:16199547 PMID:16786509 PMID:16816023 PMID:17078022 PMID:17576681 PMID:18996919 PMID:19344236 PMID:21520333 PMID:21667357 PMID:22206639 PMID:24033266 PMID:24501682 PMID:25741868 PMID:25944380 PMID:26138843 PMID:26402641 PMID:26467025 PMID:27056980 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28346524 PMID:28492532 PMID:28498836 PMID:28810924 PMID:29499418 PMID:31039433 PMID:31794058 PMID:33070251 PMID:35723357 PMID:35909573 PMID:36896471 PMID:37270749 PMID:15077201 More...
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RGD:1581198 |
NCBI chr 4:33,518,557...33,553,484
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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:20301667 PMID:21086191 PMID:21984974 PMID:22001912 PMID:22019127 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24922459 PMID:25503501 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:27011056 PMID:27888582 PMID:27964749 PMID:28492532 PMID:28748566 PMID:29192238 PMID:29346445 PMID:30115950 PMID:30374176 PMID:30474650 PMID:30837697 PMID:31141158 PMID:33087929 PMID:36977837 PMID:10706896 PMID:1370809 PMID:21071432 PMID:16012458 More...
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RGD:1300381, RGD:11041602, RGD:11041599, RGD:7257554 |
NCBI chr 9:54,866,646...54,902,578
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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:16199547 PMID:16431952 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:23587214 PMID:24033266 PMID:25741868 PMID:26608033 PMID:26854089 PMID:27011056 PMID:28074886 PMID:28485813 PMID:28492532 PMID:28550590 PMID:29924831 PMID:30675029 PMID:30858776 PMID:31064749 PMID:31829210 PMID:32508047 PMID:32938213 PMID:33206719 PMID:33737726 PMID:33914963 PMID:34150014 PMID:34265140 PMID:35128800 PMID:35396906 PMID:35723357 PMID:35982159 PMID:36973604 PMID:37427422 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
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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 9:54,940,768...55,090,151
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G |
Dcn |
decorin |
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ISS |
OMIM:225400 |
MouseDO |
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NCBI chr 7:34,167,973...34,208,004
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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
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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:27854218 PMID:28492532 PMID:28831199 PMID:31096651 PMID:33435129 More...
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NCBI chr18:51,499,670...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 PMID:31428121 PMID:33587123 |
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NCBI chr 4:83,705,531...83,721,515
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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:157,159,051...157,185,559
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G |
Lox |
lysyl oxidase |
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ISO |
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RGD |
PMID:8638917 |
RGD:1581895 |
NCBI chr18:45,964,544...45,977,431
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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:1345174 PMID:3931636 PMID:8533783 PMID:9152832 PMID:9220536 PMID:9536098 PMID:9893157 PMID:10329027 PMID:10686424 PMID:10729709 PMID:10874315 PMID:11001813 PMID:14565595 PMID:15666309 PMID:16758144 PMID:17576681 PMID:21699693 PMID:25326635 PMID:25741868 PMID:28306225 PMID:28492532 PMID:32746767 PMID:33190788 More...
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NCBI chr 5:163,623,847...163,650,737
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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:26395458 PMID:28492532 PMID:33739556 PMID:34008892 More...
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NCBI chr 4:95,075,736...95,237,921
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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...77,047,528
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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 PMID:36495030 More...
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NCBI chr 8:64,126,829...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 1:90,324,312...90,340,627
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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
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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:2511639 PMID:16928994 PMID:18781618 PMID:20332227 PMID:21358634 PMID:24033266 PMID:24055113 PMID:25116393 PMID:25260786 PMID:25504618 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25907466 PMID:25985138 PMID:26017485 PMID:27011056 PMID:27153395 PMID:27647783 PMID:27879313 PMID:28492532 PMID:28550590 PMID:28655553 PMID:36937954 More...
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NCBI chr 5:66,449,348...66,506,371
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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 8:124,672,677...124,761,741
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G |
Thbs2 |
thrombospondin 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
PMID:25741868 PMID:38433265 |
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NCBI chr 1:64,343,523...64,372,918
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G |
Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar RGD |
PMID:15733269 PMID:20853426 PMID:23555315 PMID:23620400 PMID:24033266 PMID:24088041 PMID:25047945 PMID:25326637 PMID:25333069 PMID:25741868 PMID:26075496 PMID:26193622 PMID:26257771 PMID:26275793 PMID:26408188 PMID:26633545 PMID:26662719 PMID:27297501 PMID:27796757 PMID:28492532 PMID:28518168 PMID:29590070 PMID:30975432 PMID:31141158 PMID:31702543 PMID:32164334 PMID:32214361 PMID:32461654 PMID:33057194 PMID:33482002 PMID:35807105 PMID:35982159 PMID:37895187 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:23642083 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 PMID:25564447 PMID:25741868 PMID:28377322 PMID:28484309 PMID:28492532 PMID:28518168 PMID:28622062 PMID:29228253 PMID:31107761 PMID:32461654 PMID:32671420 PMID:33739556 PMID:33816482 PMID:34368841 More...
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NCBI chr19:50,282,337...50,324,010
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G |
Alb |
albumin |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type |
ClinVar |
PMID:2404284 PMID:8347685 |
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NCBI chr14:17,891,564...17,907,043
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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 type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1770532 PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 PMID:2794057 PMID:2894346 PMID:3082886 PMID:6462220 PMID:7691343 PMID:7695699 PMID:7881420 PMID:7942841 PMID:8079666 PMID:8100856 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 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:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18409203 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18798308 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:19637253 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:24486247 PMID:24668929 PMID:24767406 PMID:25086671 PMID:25146735 PMID:25436829 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:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28102596 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29150909 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30665703 PMID:30692697 PMID:30715774 PMID:30886339 PMID:31304589 PMID:31447884 PMID:31584903 PMID:32166892 PMID:32235935 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 PMID:34902613 PMID:9295084 More...
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RGD:734803 |
NCBI chr10:80,380,458...80,397,461
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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:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:25441681 PMID:25741868 PMID:28492532 PMID:31414283 PMID:31794058 PMID:33110269 PMID:36896471 PMID:37079061 More...
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NCBI chr 4:33,518,557...33,553,484
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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 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 PMID:32508047 PMID:33737726 PMID:35723357 More...
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NCBI chr 3:11,208,429...11,356,715
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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 Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:28087566 PMID:28492532 PMID:30467950 PMID:31903434 PMID:33161638 More...
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NCBI chr 9:54,940,768...55,090,151
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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, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 |
ClinVar |
PMID:7942841 PMID:9295084 PMID:9443882 PMID:18311573 PMID:21667357 PMID:22206639 PMID:25741868 PMID:25944380 PMID:26627451 PMID:28492532 PMID:32581362 More...
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NCBI chr10:80,380,458...80,397,461
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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:3372533 PMID:3621666 PMID:3680255 PMID:3733683 PMID:4742738 PMID:4795106 PMID:6092353 PMID:6773953 PMID:7695699 PMID:7860070 PMID:7864655 PMID:8071956 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9536098 PMID:9594376 PMID:9923651 PMID:10807697 PMID:10976985 PMID:11288717 PMID:11317364 PMID:12362985 PMID:15077201 PMID:15172002 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19344236 PMID:20301472 PMID:21520333 PMID:21530898 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23158907 PMID:23869235 PMID:23934635 PMID:24033266 PMID:24501682 PMID:24668929 PMID:25146735 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:27056980 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:28346524 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28518168 PMID:28725987 PMID:28810924 PMID:29150909 PMID:29499418 PMID:30715774 PMID:30821104 PMID:30984112 PMID:31218159 PMID:31319225 PMID:31414283 PMID:31429852 PMID:31447884 PMID:32123938 PMID:32166892 PMID:32461654 PMID:32659730 PMID:33070251 PMID:33939306 PMID:34317605 PMID:34422331 PMID:35052464 PMID:35723357 PMID:35909573 PMID:36951356 PMID:37270749 More...
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NCBI chr 4:33,518,557...33,553,484
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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, 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 |
PMID:1770532 PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 PMID:2794057 PMID:2894346 PMID:3082886 PMID:6462220 PMID:7691343 PMID:7695699 PMID:7881420 PMID:7942841 PMID:8079666 PMID:8100856 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 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: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:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18409203 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18798308 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:19637253 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:24486247 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:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28102596 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29150909 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30665703 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 PMID:31584903 PMID:32166892 PMID:32235935 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 PMID:34902613 More...
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NCBI chr10:80,380,458...80,397,461
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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:12362985 PMID:15077201 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:19344236 PMID:20301472 PMID:21520333 PMID:22589248 PMID:22753364 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27056980 PMID:27519266 PMID:28492532 PMID:29150909 PMID:30821104 PMID:31218159 PMID:31414283 PMID:31794058 PMID:32166892 PMID:32659730 PMID:33110269 PMID:33939306 PMID:35052464 PMID:36896471 PMID:36951356 PMID:37079061 More...
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NCBI chr 4:33,518,557...33,553,484
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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
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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
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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
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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
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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 3:32,426,892...32,542,432
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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
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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
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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
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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 PMID:29907982 |
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NCBI chr 3:29,144,318...29,206,382
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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 PMID:29907982 |
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NCBI chr 3:29,569,907...29,578,402
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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 4:33,613,805...33,705,821
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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 3:32,281,518...32,289,019
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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
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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, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 |
ClinVar |
PMID:10739762 PMID:16786509 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532 More...
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NCBI chr10:80,380,458...80,397,461
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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: EDS I | 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:4795106 PMID:6092353 PMID:6773953 PMID:7693712 PMID:7695699 PMID:7749416 PMID:7860070 PMID:7891382 PMID:7959683 PMID:8071956 PMID:8081389 PMID:8081394 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:11288717 PMID:11317364 PMID:11359465 PMID:11836364 PMID:12362985 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:20301472 PMID:21344539 PMID:21488275 PMID:21488294 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:24863959 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:28518168 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29499418 PMID:29595812 PMID:29620724 PMID:29656858 PMID:29807018 PMID:29947050 PMID:30152103 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31193991 PMID:31218159 PMID:31363794 PMID:31414283 PMID:31429852 PMID:31447884 PMID:31566912 PMID:31794058 PMID:32166892 PMID:32461654 PMID:32659730 PMID:32667677 PMID:33070251 PMID:33110269 PMID:33939306 PMID:34317605 PMID:34422331 PMID:35052464 PMID:35154279 PMID:35723357 PMID:35830949 PMID:35909573 PMID:36896471 PMID:36900016 PMID:36951356 PMID:37079061 PMID:37270749 PMID:37810882 PMID:38346409 More...
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NCBI chr 4:33,518,557...33,553,484
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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 Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:9783710 PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 More...
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NCBI chr 9:54,866,646...54,902,578
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: EDS I | 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 OMIM:130000 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 MouseDO 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:16431952 PMID:16751282 PMID:17576681 PMID:18972565 PMID:19011090 PMID:19019335 PMID:19344236 PMID:19370768 PMID:20301422 PMID:20308875 PMID:20635400 PMID:20979576 PMID:21541907 PMID:21611149 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24088041 PMID:24685354 PMID:24951259 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26188975 PMID:26608033 PMID:26633545 PMID:26854089 PMID:27011056 PMID:27959697 PMID:27975164 PMID:28074886 PMID:28166811 PMID:28306229 PMID:28454995 PMID:28485813 PMID:28492532 PMID:28550590 PMID:28714197 PMID:28748566 PMID:28914264 PMID:29578302 PMID:29907982 PMID:29924831 PMID:30467950 PMID:30675029 PMID:30858776 PMID:31064749 PMID:31141158 PMID:31239369 PMID:31625567 PMID:31660461 PMID:31829210 PMID:31903434 PMID:32467296 PMID:32508047 PMID:32581362 PMID:32720758 PMID:32766464 PMID:32938213 PMID:33161638 PMID:33206719 PMID:33656776 PMID:33726816 PMID:33737726 PMID:33834621 PMID:33914963 PMID:34041919 PMID:34150014 PMID:34265140 PMID:34422331 PMID:35128800 PMID:35396906 PMID:35599849 PMID:35723357 PMID:35982159 PMID:36411388 PMID:36973604 PMID:37079061 PMID:37427422 More...
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NCBI chr 3:11,208,429...11,356,715
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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: EDS I | 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: EDS I | 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 Annotator: match by term: EDS I | 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 ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, 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:7695699 PMID:8218237 PMID:9425231 PMID:9536098 PMID:9783710 PMID:11940702 PMID:15580559 PMID:16199547 PMID:17576681 PMID:19344236 PMID:20301422 PMID:20648054 PMID:20847697 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24922459 PMID:25326637 PMID:25741868 PMID:26188975 PMID:26608033 PMID:27011056 PMID:28087566 PMID:28132693 PMID:28166811 PMID:28213671 PMID:28485813 PMID:28492532 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:30675029 PMID:30919572 PMID:31517854 PMID:31538843 PMID:31829210 PMID:31847883 PMID:31903434 PMID:32235935 PMID:32381727 PMID:32736638 PMID:33161638 PMID:33834621 PMID:33974636 PMID:34265140 PMID:35128800 PMID:37079061 More...
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NCBI chr 9:54,940,768...55,090,151
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G |
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 3:30,886,313...30,903,313
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G |
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
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G |
Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
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NCBI chr 3:29,568,041...29,569,937
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G |
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 PMID:29907982 |
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NCBI chr 3:29,599,059...29,605,780
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G |
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
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G |
Fcnb |
ficolin B |
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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 PMID:29907982 |
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NCBI chr 3:11,393,713...11,402,198
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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:157,159,051...157,185,559
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G |
Gbgt1 |
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,826,131...11,829,745
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G |
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
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G |
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 PMID:29907982 |
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NCBI chr 3:29,026,023...29,037,010
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G |
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 PMID:29907982 |
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NCBI chr 3:29,538,929...29,565,921
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G |
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
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G |
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
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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 PMID:29907982 |
|
NCBI chr 3:29,614,868...29,627,542
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
|
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 PMID:29907982 |
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NCBI chr 3:29,081,071...29,136,902
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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 PMID:29907982 |
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NCBI chr 3:29,930,943...29,935,418
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G |
Lcn9 |
lipocalin 9 |
|
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 PMID:29907982 |
|
NCBI chr 3:29,041,710...29,050,677
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G |
Lhx3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,424,620...29,432,637
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G |
Lum |
lumican |
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ISS |
OMIM:130000 |
MouseDO |
|
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NCBI chr 7:34,245,323...34,252,510
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G |
Med12 |
mediator complex subunit 12 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr X:66,404,807...66,427,775
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G |
Med22 |
mediator complex subunit 22 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,233,754...10,238,836
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G |
Med27 |
mediator complex subunit 27 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,629,593...12,803,340
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G |
Mrps2 |
mitochondrial ribosomal protein S2 |
|
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 PMID:29907982 |
|
NCBI chr 3:32,201,037...32,204,317
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|
G |
Myh11 |
myosin heavy chain 11 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:1,250,554...1,345,681
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G |
Mymk |
myomaker, myoblast fusion factor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,388,363...10,397,294
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G |
Nacc2 |
NACC family member 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,278,077...29,345,098
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G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,676,040...29,721,613
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|
G |
Ntng2 |
netrin G2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,492,574...12,551,104
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|
G |
Obp2a |
odorant binding protein 2A |
|
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 PMID:29907982 |
|
NCBI chr 3:28,904,024...28,907,391
|
|
G |
Obp2b |
odorant binding protein 2B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,582,074...8,585,258
|
|
G |
Olfm1 |
olfactomedin 1 |
|
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 PMID:29907982 |
|
NCBI chr 3:11,520,522...11,558,240
|
|
G |
Paep |
progestagen associated endometrial protein |
|
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 PMID:29907982 |
|
NCBI chr 3:28,929,252...28,932,592
|
|
G |
Pierce1 |
piercer of microtubule wall 1 |
|
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 PMID:29907982 |
|
NCBI chr 3:11,797,031...11,801,568
|
|
G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,605,823...29,614,936
|
|
G |
Pomt1 |
protein-O-mannosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:15,520,717...15,538,579
|
|
G |
Ppp1r26 |
protein phosphatase 1, regulatory subunit 26 |
|
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 PMID:29907982 |
|
NCBI chr 3:11,781,504...11,790,076
|
|
G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,433,091...29,462,739
|
|
G |
Ralgds |
ral guanine nucleotide dissociation stimulator |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,237,644...32,278,045
|
|
G |
Rapgef1 |
Rap guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:33,296,211...33,414,119
|
|
G |
Rexo4 |
REX4 homolog, 3'-5' exonuclease |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,280,654...10,291,003
|
|
G |
Rnu6atac |
RNA, U6atac small nuclear |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:211,550,817...211,550,946
|
|
G |
Rpl7a |
ribosomal protein L7A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,239,026...10,241,703
|
|
G |
Rxra |
retinoid X receptor alpha |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:31,387,892...31,474,415
|
|
G |
Sardh |
sarcosine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,510,553...10,575,342
|
|
G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,627,779...29,662,925
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,825,771...32,878,740
|
|
G |
Sgce |
sarcoglycan, epsilon |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:32,771,477...32,842,238
|
|
G |
Slc2a10 |
solute carrier family 2 member 10 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:174,659,683...174,671,978
|
|
G |
Slc2a6 |
solute carrier family 2 member 6 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,746,472...30,753,287
|
|
G |
Slc40a1 |
solute carrier family 40 member 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:20648054 PMID:23587214 PMID:28492532 |
|
NCBI chr 9:55,525,457...55,633,463
|
|
G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,580,157...29,598,440
|
|
G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
|
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 PMID:29907982 |
|
NCBI chr 3:29,061,267...29,065,588
|
|
G |
Spaca9 |
sperm acrosome associated 9 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,019,376...12,028,801
|
|
G |
Stkld1 |
serine/threonine kinase-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,659,659...30,678,650
|
|
G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,639,868...30,642,759
|
|
G |
Surf2 |
surfeit 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,244,654...10,248,502
|
|
G |
Surf4 |
surfeit 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,248,360...10,261,537
|
|
G |
Surf6 |
surfeit 6 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,221,450...10,232,306
|
|
G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:30675029 |
|
NCBI chr 5:66,449,348...66,506,371
|
|
G |
Tmem250 |
transmembrane protein 250 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,360,770...29,364,756
|
|
G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:32,367,434...32,416,565
|
|
G |
Ttf1 |
transcription termination factor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,384,626...12,409,257
|
|
G |
Ubac1 |
UBA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:29,223,582...29,246,216
|
|
G |
Uck1 |
uridine-cytidine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:35,936,328...35,942,213
|
|
G |
Vav2 |
vav guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:30,982,754...31,152,116
|
|
G |
Wdr5 |
WD repeat domain 5 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,836,964...10,856,682
|
|
G |
Wdr75 |
WD repeat domain 75 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:20648054 PMID:23587214 PMID:28492532 |
|
NCBI chr 9:47,903,214...47,933,399
|
|
|
G |
Aebp1 |
AE binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 |
ClinVar |
|
|
NCBI chr14:80,738,800...80,748,878
|
|
G |
Col1a2 |
collagen type I alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: EDS II | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE II |
ClinVar |
PMID:458828 PMID:1978725 PMID:2010058 PMID:2824475 PMID:2985635 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:21344539 PMID:21488275 PMID:21488294 PMID:21520333 PMID:21667357 PMID:21801164 PMID:21912751 PMID:22206639 PMID:22589248 PMID:23227268 PMID:23692737 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24501682 PMID:24668929 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: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: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:34422331 More...
|
|
NCBI chr 4:33,518,557...33,553,484
|
|
G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism 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:15580559 PMID:22696272 PMID:25741868 PMID:28492532 PMID:32720758 PMID:32938213 PMID:33161638 More...
|
|
NCBI chr 3:11,208,429...11,356,715
|
|
G |
Col5a2 |
collagen type V alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: COL5A2-related condition | 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:16199547 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:31847883 PMID:31903434 PMID:32381727 PMID:33161638 PMID:33974636 PMID:37079061 More...
|
|
NCBI chr 9:54,940,768...55,090,151
|
|
|
G |
Tnxb |
tenascin XB |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 1 | ClinVar Annotator: match by term: TNX deficiency |
CTD ClinVar OMIM |
PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 PMID:20853426 PMID:23284009 PMID:23555315 PMID:23620400 PMID:23768946 PMID:24033266 PMID:24088041 PMID:25333069 PMID:25741868 PMID:25793578 PMID:26075496 PMID:26193622 PMID:26257771 PMID:26408188 PMID:26633545 PMID:26662719 PMID:27297501 PMID:27582382 PMID:27796757 PMID:28344932 PMID:28492532 PMID:28518168 PMID:29734195 PMID:29970176 PMID:30115950 PMID:31141158 PMID:31229653 PMID:31702543 PMID:31731524 PMID:31775249 PMID:32164334 PMID:32214361 PMID:32461654 PMID:32572181 PMID:33332743 PMID:33482002 PMID:35000503 PMID:35807105 PMID:35903967 PMID:35918752 PMID:37895187 More...
|
|
|
|
|
G |
Aebp1 |
AE binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: AEBP1-related condition | 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 PMID:33144682 More...
|
|
NCBI chr14:80,738,800...80,748,878
|
|
|
G |
Thbs2 |
thrombospondin 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 3 |
ClinVar |
PMID:25741868 PMID:38433265 |
|
NCBI chr 1:64,343,523...64,372,918
|
|
|
G |
Adamts2 |
ADAM metallopeptidase with thrombospondin type 1 motif, 2 |
|
ISO |
ClinVar Annotator: match by term: ADAMTS2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type CTD Direct Evidence: marker/mechanism DNA:deletions: : |
OMIM ClinVar CTD RGD |
PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 PMID:10417273 PMID:15373769 PMID:15389701 PMID:16199547 PMID:16770806 PMID:17090394 PMID:17576681 PMID:18973246 PMID:21567906 PMID:22863189 PMID:23495203 PMID:23599694 PMID:23913520 PMID:24819041 PMID:25640679 PMID:25741868 PMID:26582918 PMID:26765342 PMID:28128410 PMID:28306225 PMID:28346524 PMID:28492532 PMID:29843651 PMID:33389145 PMID:15373769 More...
|
RGD:1598738 |
NCBI chr10:34,920,992...35,126,465
|
|
G |
Arl10 |
ARF like GTPase 10 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:10,030,213...10,038,625
|
|
G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,018,514...9,027,591
|
|
G |
Canx |
calnexin |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,124,941...35,157,954
|
|
G |
Cby3 |
chibby family member 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:34,680,926...34,683,176
|
|
G |
Cdhr2 |
cadherin-related family member 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,876,853...9,913,356
|
|
G |
Clk4 |
CDC-like kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:36,024,364...36,042,366
|
|
G |
Cltb |
clathrin, light chain B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:10,001,512...10,019,201
|
|
G |
Col23a1 |
collagen type XXIII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,549,090...35,839,152
|
|
G |
Cplx2 |
complexin 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:10,219,577...10,292,835
|
|
G |
Dbn1 |
drebrin 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,150,608...9,164,982
|
|
G |
Ddx41 |
DEAD-box helicase 41 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,102,926...9,108,415
|
|
G |
Dok3 |
docking protein 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,109,633...9,115,188
|
|
G |
Eif4e1b |
eukaryotic translation initiation factor 4E family member 1B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,831,338...9,856,250
|
|
G |
F12 |
coagulation factor XII |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,212,819...9,220,664
|
|
G |
Faf2 |
Fas associated factor family member 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,947,211...9,989,474
|
|
G |
Fam193b |
family with sequence similarity 193, member B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,066,818...9,099,511
|
|
G |
Fgfr4 |
fibroblast growth factor receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,466,686...9,481,423
|
|
G |
Gprin1 |
G protein-regulated inducer of neurite outgrowth 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,863,881...9,876,832
|
|
G |
Grk6 |
G protein-coupled receptor kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,182,160...9,198,380
|
|
G |
Grm6 |
glutamate metabotropic receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,167,985...35,182,717
|
|
G |
Higd2a |
HIG1 hypoxia inducible domain family, member 2A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:10,026,961...10,027,885
|
|
G |
Hk3 |
hexokinase 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,602,119...9,620,038
|
|
G |
Hnrnpab |
heterogeneous nuclear ribonucleoprotein A/B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:36,358,004...36,363,898
|
|
G |
Hnrnph1 |
heterogeneous nuclear ribonucleoprotein H1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:34,692,868...34,702,849
|
|
G |
Kiaa1191 |
KIAA1191 homolog |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:10,049,142...10,061,819
|
|
G |
Lman2 |
lectin, mannose-binding 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,269,236...9,286,923
|
|
G |
Ltc4s |
leukotriene C4 synthase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,060,002...35,066,466
|
|
G |
Maml1 |
mastermind-like transcriptional coactivator 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:34,588,639...34,623,024
|
|
G |
Mgat4b |
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:34,548,918...34,559,229
|
|
G |
Mxd3 |
Max dimerization protein 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,301,430...9,305,156
|
|
G |
N4bp3 |
Nedd4 binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,898,031...35,906,704
|
|
G |
Nhp2 |
NHP2 ribonucleoprotein |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,877,057...35,880,399
|
|
G |
Nop16 |
NOP16 nucleolar protein |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:10,022,950...10,027,867
|
|
G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,311,963...9,426,373
|
|
G |
Pdlim7 |
PDZ and LIM domain 7 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,124,565...9,139,814
|
|
G |
Pfn3 |
profilin 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,217,595...9,218,122
|
|
G |
Phykpl |
5-phosphohydroxy-L-lysine phospho-lyase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,839,965...35,863,631
|
|
G |
Prelid1 |
PRELI domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,305,349...9,308,389
|
|
G |
Prop1 |
PROP paired-like homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,271,959...35,274,434
|
|
G |
Prr7 |
proline rich 7 (synaptic) |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,164,375...9,173,669
|
|
G |
Rab24 |
RAB24, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,313,593...9,315,675
|
|
G |
Rgs14 |
regulator of G-protein signaling 14 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,248,982...9,263,104
|
|
G |
Rmnd5b |
required for meiotic nuclear division 5 homolog B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:36,382,212...36,394,801
|
|
G |
Rnf44 |
ring finger protein 44 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,919,982...9,934,376
|
|
G |
Rufy1 |
RUN and FYVE domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:34,705,741...34,750,644
|
|
G |
Simc1 |
SUMO-interacting motifs containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:10,061,752...10,106,938
|
|
G |
Slc34a1 |
solute carrier family 34 member 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,224,010...9,238,983
|
|
G |
Sncb |
synuclein, beta |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,846,802...9,855,013
|
|
G |
Spata31d1c |
SPATA31 subfamily D member 1C |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:159,402...164,239
|
|
G |
Sqstm1 |
sequestosome 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,026,598...35,037,750
|
|
G |
Thoc3 |
THO complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:10,143,184...10,152,375
|
|
G |
Tmed9 |
transmembrane p24 trafficking protein 9 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,029,646...9,034,160
|
|
G |
Tspan17 |
tetraspanin 17 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,819,212...9,826,851
|
|
G |
Uimc1 |
ubiquitin interaction motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,523,793...9,592,810
|
|
G |
Unc5a |
unc-5 netrin receptor A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,614,841...9,670,558
|
|
G |
Zfp2 |
zinc finger protein 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,209,187...35,228,849
|
|
G |
Zfp346 |
zinc finger protein 346 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr17:9,498,933...9,528,824
|
|
G |
Zfp354a |
zinc finger protein 354A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,396,242...35,408,069
|
|
G |
Zfp354c |
zinc finger protein 354C |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,630,738...35,647,176
|
|
G |
Zfp879 |
zinc finger protein 879 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,148,679...35,158,674
|
|
G |
Znf354b |
zinc finger protein 354B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,233,783...35,251,110
|
|
G |
Znf454 |
zinc finger protein 454 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145 More...
|
|
NCBI chr10:35,183,729...35,200,450
|
|
|
G |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
DNA:missense mutation: :p.G637S (2512G>A) (human) ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type |
ClinVar RGD |
PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 PMID:29590070 PMID:30087447 PMID:31075413 PMID:31531849 PMID:7833919 More...
|
RGD:11041770 |
NCBI chr 9:54,866,646...54,902,578
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:29,676,040...29,721,613
|
|
G |
Tnxb |
tenascin XB |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 |
ClinVar |
PMID:25326637 PMID:25741868 |
|
|
|
|
G |
2510039O18Rikl |
RIKEN cDNA 2510039O18 gene like |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:163,655,082...163,661,346
|
|
G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:7581394 PMID:7668254 PMID:9425230 PMID:17372139 PMID:19129531 PMID:22280810 PMID:23566833 PMID:25741868 PMID:28492532 PMID:32003821 More...
|
|
NCBI chr X:151,428,334...151,450,115
|
|
G |
Clcn6 |
chloride voltage-gated channel 6 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:163,715,593...163,748,301
|
|
G |
Dclre1c |
DNA cross-link repair 1C |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 |
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NCBI chr17:79,684,988...79,718,399
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G |
Mfn2 |
mitofusin 2 |
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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 |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:158,304,285...158,335,502
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G |
Mthfr |
methylenetetrahydrofolate reductase |
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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 5:163,748,346...163,768,141
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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 5:163,712,184...163,713,493
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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 5:163,699,955...163,701,314
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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:10729709 PMID:10874315 PMID:11001813 PMID:14565595 PMID:15666309 PMID:15979919 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:28391405 PMID:28492532 PMID:29590070 PMID:31668813 PMID:32174067 PMID:32381727 PMID:32720365 PMID:32746767 PMID:33190788 PMID:34265140 PMID:35128800 PMID:35252061 PMID:35583931 PMID:36495030 PMID:36973604 PMID:37012328 More...
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NCBI chr 5:163,623,847...163,650,737
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G |
Aqp1 |
aquaporin 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:85,812,784...85,824,964
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G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:85,553,163...85,596,203
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G |
Fkbp14 |
FKBP prolyl isomerase 14 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
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 PMID:31428121 PMID:33587123 PMID:34504686 PMID:36054293 PMID:36553464 More...
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NCBI chr 4:83,705,531...83,721,515
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G |
Gars1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI 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, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:85,453,387...85,459,597
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G |
Ghrhr |
growth hormone releasing hormone receptor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,498,159...84,532,851
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G |
Inmt |
indolethylamine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI 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, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,358,660...84,469,189
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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, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:83,807,528...83,828,494
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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, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:85,391,142...85,442,281
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G |
Plekha8 |
pleckstrin homology domain containing A8 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:83,723,470...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, kyphoscoliotic type, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:85,274,626...85,358,083
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: CHST14-related condition | 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:25348902 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 PMID:28306225 PMID:28346368 PMID:28492532 PMID:31905796 PMID:32629534 PMID:34815299 PMID:35464846 PMID:26373698 PMID:20004762 More...
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RGD:11061906, RGD:155663488 |
NCBI chr 3:126,370,348...126,372,405
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G |
Dse |
dermatan sulfate epimerase |
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ISO |
ClinVar Annotator: match by term: DSE-related condition | 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
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G |
Tspyl1 |
TSPY-like 1 |
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ISO |
ClinVar Annotator: match by term: DSE-related condition |
ClinVar |
PMID:28492532 |
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NCBI chr20:38,082,003...38,084,562
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G |
C1r |
complement C1r |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: C1R-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 |
OMIM CTD 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
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G |
C1rl |
complement C1r subcomponent like |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 |
ClinVar |
PMID:25741868 PMID:27745832 |
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NCBI chr 4:157,394,183...157,410,771
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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
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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:25741868 PMID:27663155 PMID:27745832 More...
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NCBI chr 4:157,412,718...157,423,483
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G |
C1rl |
complement C1r subcomponent like |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 |
ClinVar |
PMID:25741868 PMID:27745832 |
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NCBI chr 4:157,394,183...157,410,771
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G |
C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: C1S-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 |
OMIM ClinVar |
PMID:9973493 PMID:11390518 PMID:19155518 PMID:25741868 PMID:27745832 PMID:28492532 More...
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NCBI chr 4:157,430,249...157,442,438
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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 5:171,866,428...171,868,564
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G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: B4GALT7-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:28306225 PMID:28492532 PMID:30914273 PMID:31278392 PMID:31614862 More...
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NCBI chr17:9,018,514...9,027,591
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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:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,783,382...171,797,709
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,518,470...170,519,870
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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:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,031,528...172,064,429
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,680,597...171,682,854
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,126,573...170,148,624
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,632,545...171,652,725
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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:26477546 PMID:27023906 PMID:28229453 PMID:28492532 PMID:28649518 PMID:29230159 PMID:29443383 PMID:29620724 PMID:29931299 PMID:31614862 PMID:31674007 PMID:32381727 PMID:32761602 PMID:33461977 PMID:33631843 PMID:34529350 PMID:35726512 PMID:35734427 PMID:35903967 PMID:35918752 More...
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NCBI chr 5:171,866,428...171,868,564
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G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
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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:16199547 PMID:17576681 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28306225 PMID:28492532 PMID:28882145 PMID:30914273 PMID:31278392 PMID:31614862 PMID:32429945 PMID:34193099 More...
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NCBI chr17:9,018,514...9,027,591
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G |
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:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,833,854...171,838,229
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G |
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:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,983,700...172,001,373
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G |
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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,867,706...169,881,820
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G |
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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,698,951...171,711,037
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G |
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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,495,042...171,521,143
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G |
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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,817,383...169,849,681
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G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,252,907...171,328,351
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G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,757,181...171,761,271
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G |
Dbn1 |
drebrin 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,150,608...9,164,982
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G |
Ddx41 |
DEAD-box helicase 41 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,102,926...9,108,415
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G |
Dok3 |
docking protein 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,109,633...9,115,188
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|
G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,738,911...171,750,967
|
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G |
Eif4e1b |
eukaryotic translation initiation factor 4E family member 1B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,831,338...9,856,250
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|
G |
F12 |
coagulation factor XII |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,212,819...9,220,664
|
|
G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,083,328...171,097,599
|
|
G |
Fam193b |
family with sequence similarity 193, member B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,066,818...9,099,511
|
|
G |
Fgfr4 |
fibroblast growth factor receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,466,686...9,481,423
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|
G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,581,960...171,584,519
|
|
G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,240,813...171,252,709
|
|
G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,357,778...171,424,489
|
|
G |
Grk6 |
G protein-coupled receptor kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,182,160...9,198,380
|
|
G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,804,511...170,807,988
|
|
G |
Hk3 |
hexokinase 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,602,119...9,620,038
|
|
G |
Ints11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,761,370...171,779,883
|
|
G |
Isg15 |
ISG15 ubiquitin-like modifier |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,066,369...172,067,656
|
|
G |
Klhl17 |
kelch-like family member 17 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,095,701...172,101,945
|
|
G |
Lman2 |
lectin, mannose-binding 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,269,236...9,286,923
|
|
G |
Lrrc47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:169,852,926...169,862,598
|
|
G |
Megf6 |
multiple EGF-like-domains 6 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,020,699...170,121,557
|
|
G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,526,037...171,542,479
|
|
G |
Mir200a |
microRNA 200a |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,930,717...171,930,805
|
|
G |
Mir200b |
microRNA 200b |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,931,495...171,931,589
|
|
G |
Mir429 |
microRNA 429 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,929,682...171,929,766
|
|
G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,713,602...170,744,058
|
|
G |
Mmp23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,521,905...171,525,007
|
|
G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,928,086...170,987,219
|
|
G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,690,664...171,695,728
|
|
G |
Mxd3 |
Max dimerization protein 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,301,430...9,305,156
|
|
G |
Mxra8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,731,153...171,735,879
|
|
G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,427,973...171,458,586
|
|
G |
Noc2l |
NOC2-like nucleolar associated transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,102,369...172,114,168
|
|
G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,311,963...9,426,373
|
|
G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,807,744...170,824,478
|
|
G |
Pdlim7 |
PDZ and LIM domain 7 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,124,565...9,139,814
|
|
G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
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:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,910,136...170,915,302
|
|
G |
Pfn3 |
profilin 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,217,595...9,218,122
|
|
G |
Plch2 |
phospholipase C, eta 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,826,543...170,885,012
|
|
G |
Plekhn1 |
pleckstrin homology domain containing N1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,087,524...172,095,566
|
|
G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,162,275...170,486,371
|
|
G |
Prelid1 |
PRELI domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,305,349...9,308,389
|
|
G |
Prkcz |
protein kinase C, zeta |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,101,774...171,212,694
|
|
G |
Prop1 |
PROP paired-like homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:35,271,959...35,274,434
|
|
G |
Prr7 |
proline rich 7 (synaptic) |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,164,375...9,173,669
|
|
G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,744,953...170,747,556
|
|
G |
Pusl1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,773,284...171,782,893
|
|
G |
Rab24 |
RAB24, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,313,593...9,315,675
|
|
G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,916,643...170,929,073
|
|
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
|
|
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:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,005,566...172,008,456
|
|
G |
Samd11 |
sterile alpha motif domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,113,900...172,142,026
|
|
G |
Sdf4 |
stromal cell derived factor 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,868,591...171,885,827
|
|
G |
Ski |
Ski proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,995,851...171,064,957
|
|
G |
Slc34a1 |
solute carrier family 34 member 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,224,010...9,238,983
|
|
G |
Slc35e2b |
solute carrier family 35, member E2B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,465,222...171,493,317
|
|
G |
Smim1 |
small integral membrane protein 1 (Vel blood group) |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:169,861,751...169,867,070
|
|
G |
Sncb |
synuclein, beta |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,846,802...9,855,013
|
|
G |
Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,595,919...171,625,675
|
|
G |
Tas1r3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,750,937...171,754,993
|
|
G |
Tmed9 |
transmembrane p24 trafficking protein 9 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,029,646...9,034,160
|
|
G |
Tmem240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,625,830...171,653,836
|
|
G |
Tmem52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,330,948...171,332,704
|
|
G |
Tmem88b |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,673,319...171,676,143
|
|
G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,768,413...170,776,749
|
|
G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,901,734...171,904,578
|
|
G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,889,134...171,891,824
|
|
G |
Tp73 |
tumor protein p73 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:169,903,801...169,988,075
|
|
G |
Tprg1l |
tumor protein p63 regulated 1-like |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,004,577...170,007,784
|
|
G |
Tspan17 |
tetraspanin 17 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,819,212...9,826,851
|
|
G |
Ttc34 |
tetratricopeptide repeat domain 34 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,693,410...170,711,215
|
|
G |
Ttll10 |
tubulin tyrosine ligase like 10 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,912,371...171,937,733
|
|
G |
Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,815,607...171,830,037
|
|
G |
Uimc1 |
ubiquitin interaction motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,523,793...9,592,810
|
|
G |
Unc5a |
unc-5 netrin receptor A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,614,841...9,670,558
|
|
G |
Vwa1 |
von Willebrand factor A domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,659,694...171,664,880
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G |
Wrap73 |
WD repeat containing, antisense to TP73 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,988,538...170,004,071
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G |
Zfp346 |
zinc finger protein 346 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,498,933...9,528,824
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G |
Slc39a13 |
solute carrier family 39 member 13 |
|
ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like CTD Direct Evidence: marker/mechanism DNA:deletion:cds:c.483_491del9 (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 PMID:25007800 PMID:25741868 PMID:28492532 PMID:32295219 PMID:18513683 More...
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RGD:11553863 |
NCBI chr 3:77,039,411...77,047,528
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G |
Col3a1 |
collagen type III alpha 1 chain |
|
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:1556139 PMID:1568754 PMID:1619632 PMID:1672129 PMID:1757960 PMID:1772601 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:2934644 PMID:2934645 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:8884076 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:16863833 PMID:17053184 PMID:17122455 PMID:17210404 PMID:17224388 PMID:17251678 PMID:17576681 PMID:17728513 PMID:18043893 PMID:18272325 PMID:18389341 PMID:19011090 PMID:19248182 PMID:19344236 PMID:19424605 PMID:19444361 PMID:19477391 PMID:19695909 PMID:19993915 PMID:20052764 PMID:20301667 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:22610159 PMID:22647446 PMID:22696272 PMID:22713205 PMID:23052746 PMID:23148498 PMID:23234825 PMID:23293852 PMID:23587214 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24650746 PMID:24922459 PMID:24932165 PMID:24951259 PMID:25149929 PMID:25205403 PMID:25326637 PMID:25355833 PMID:25503501 PMID:25525159 PMID:25526469 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:26497932 PMID:26854089 PMID:27011056 PMID:27146836 PMID:27153395 PMID:27168972 PMID:27306637 PMID:27488172 PMID:27611364 PMID:27888582 PMID:27964749 PMID:27975164 PMID:28035354 PMID:28087566 PMID:28183226 PMID:28258187 PMID:28349240 PMID:28492532 PMID:28518168 PMID:28655553 PMID:28742248 PMID:28748566 PMID:29192238 PMID:29216800 PMID:29309923 PMID:29323927 PMID:29346445 PMID:29381997 PMID:29510914 PMID:29543232 PMID:29590070 PMID:29650765 PMID:29778910 PMID:29790871 PMID:29907982 PMID:29940997 PMID:30087447 PMID:30115950 PMID:30122538 PMID:30129429 PMID:30374176 PMID:30379966 PMID:30474650 PMID:30675029 PMID:30786240 PMID:30793832 PMID:30837697 PMID:30896870 PMID:30919682 PMID:30999998 PMID:31008308 PMID:31075413 PMID:31126764 PMID:31141158 PMID:31394236 PMID:31447099 PMID:31531849 PMID:31575845 PMID:31600821 PMID:31719132 PMID:31791984 PMID:31833208 PMID:31891008 PMID:31903434 PMID:32461654 PMID:32483363 PMID:33087929 PMID:33125268 PMID:33161638 PMID:33282382 PMID:33726816 PMID:34047934 PMID:34318601 PMID:35092149 PMID:35406420 PMID:35543214 PMID:35587586 PMID:35699227 PMID:36103205 PMID:36119745 PMID:36189931 PMID:36277156 PMID:36318936 PMID:36977837 PMID:37042257 PMID:37079061 PMID:37086723 PMID:37171638 PMID:37655064 PMID:38102934 More...
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NCBI chr 9:54,866,646...54,902,578
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G |
Col5a2 |
collagen type V alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 |
|
NCBI chr 9:54,940,768...55,090,151
|
|
G |
Slc40a1 |
solute carrier family 40 member 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:20648054 PMID:23587214 PMID:24922459 PMID:28492532 |
|
NCBI chr 9:55,525,457...55,633,463
|
|
G |
Wdr75 |
WD repeat domain 75 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:20648054 PMID:23587214 PMID:24922459 PMID:28492532 |
|
NCBI chr 9:47,903,214...47,933,399
|
|
|
G |
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, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease | ClinVar Annotator: match by term: epidermolysis bullosa dystrophica, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8037207 PMID:8088783 PMID:8218237 PMID:8345225 PMID:8592061 PMID:8618004 PMID:8618018 PMID:8618021 PMID:8644729 PMID:8644730 PMID:8752681 PMID:8755915 PMID:8900535 PMID:9042157 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9536098 PMID:9666834 PMID:9668111 PMID:9740253 PMID:9804332 PMID:9856844 PMID:9881948 PMID:9892921 PMID:10084325 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10583163 PMID:10836608 PMID:10944088 PMID:10980546 PMID:11167698 PMID:11378329 PMID:11698408 PMID:11710955 PMID:11781296 PMID:11843659 PMID:11874498 PMID:12207583 PMID:12485454 PMID:12653705 PMID:12735646 PMID:12787275 PMID:12813757 PMID:15509587 PMID:15550148 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16199547 PMID:16271705 PMID:16439963 PMID:16484981 PMID:16500083 PMID:16965329 PMID:16971478 PMID:17282977 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:19197535 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:21124339 PMID:21269315 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22070715 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23397949 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24170138 PMID:24210835 PMID:24213372 PMID:24252097 PMID:24279917 PMID:24317394 PMID:24577406 PMID:24599399 PMID:24794830 PMID:24831336 PMID:24947307 PMID:25155989 PMID:25201089 PMID:25222259 PMID:25284350 PMID:25525159 PMID:25556825 PMID:25741868 PMID:25819062 PMID:25913354 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26612796 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27544590 PMID:27746867 PMID:27899325 PMID:28492532 PMID:28830826 PMID:28853495 PMID:29130490 PMID:29229433 PMID:29242947 PMID:29272047 PMID:29334134 PMID:29364557 PMID:29427316 PMID:29473190 PMID:29500833 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31090061 PMID:31670143 PMID:31709745 PMID:31786163 PMID:31930626 PMID:32383240 PMID:32484238 PMID:32506467 PMID:32860008 PMID:32947957 PMID:33274474 PMID:33587123 PMID:33969388 PMID:34046686 PMID:34230977 PMID:34435747 PMID:34674926 PMID:34826142 PMID:34948168 PMID:35432467 PMID:35885431 PMID:35979658 PMID:36287101 PMID:36430820 PMID:8275094 More...
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RGD:1600946 |
NCBI chr 8:109,604,877...109,637,249
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
mRNA,protein:decreased expression:skin: |
RGD |
PMID:15140235 |
RGD:12743601 |
NCBI chr14:86,270,208...86,277,944
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|
G |
Mir711 |
microRNA 711 |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:109,621,975...109,622,042
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
severity |
ISO |
DNA:insertion:promoter:g.-1607_-1606insG (human) ClinVar Annotator: match by term: Hallopeau-Siemens Disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:25741868 PMID:28492532 PMID:18030675 |
RGD:8549728 |
NCBI chr 8:12,943,453...12,963,966
|
|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
|
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...109,637,249
|
|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
|
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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8644730 PMID:8755915 PMID:9182828 PMID:9242516 PMID:9326325 PMID:9536098 PMID:9666834 PMID:9718359 PMID:9804332 PMID:9856844 PMID:9881948 PMID:10367729 PMID:10383749 PMID:10408773 PMID:10504458 PMID:10836608 PMID:11781296 PMID:12207583 PMID:12485454 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16199547 PMID:16271705 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17434045 PMID:17576681 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22209565 PMID:22266148 PMID:23237810 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24599399 PMID:24947307 PMID:25201089 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31930626 PMID:32383240 PMID:32484238 PMID:32860008 PMID:33274474 PMID:33587123 PMID:34046686 PMID:34435747 PMID:34597860 PMID:35598269 PMID:35979658 PMID:36287101 More...
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|
NCBI chr 8:109,604,877...109,637,249
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|
|
G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8618021 PMID:8644730 PMID:8752681 PMID:8755915 PMID:9242516 PMID:9326325 PMID:9536098 PMID:9666834 PMID:9804332 PMID:9881948 PMID:10383749 PMID:10408773 PMID:10504458 PMID:10836608 PMID:11710955 PMID:11781296 PMID:11843659 PMID:12207583 PMID:12485454 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16199547 PMID:16271705 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17576681 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24599399 PMID:24947307 PMID:25201089 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31930626 PMID:32383240 PMID:32860008 PMID:33587123 PMID:34435747 PMID:35979658 PMID:36287101 More...
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NCBI chr 8:109,604,877...109,637,249
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|
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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
|
|
|
G |
Ano5 |
anoctamin 5 |
|
ISO ISS |
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions OMIM:166260 DNA:missense mutations:exon:p.C356R, p.C356G (human) DNA:missense mutation:exon:p.T513I (c.1538C>T) (human) |
OMIM ClinVar MouseDO RGD |
PMID:3530687 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 PMID:16199547 PMID:17008331 PMID:17132147 PMID:17576681 PMID:18414213 PMID:20096397 PMID:20692837 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:26404900 PMID:26436962 PMID:26467025 PMID:26809617 PMID:26810512 PMID:26838040 PMID:26886200 PMID:26911675 PMID:27066573 PMID:27447704 PMID:27541832 PMID:27671536 PMID:27708273 PMID:27854218 PMID:27862037 PMID:27884173 PMID:27911336 PMID:28176803 PMID:28187523 PMID:28489263 PMID:28492532 PMID:28888072 PMID:29124309 PMID:29382405 PMID:29431110 PMID:29792937 PMID:30564623 PMID:30919934 PMID:31127727 PMID:31341644 PMID:31350120 PMID:31353849 PMID:31395899 PMID:31475473 PMID:31517061 PMID:31561939 PMID:31589614 PMID:31791368 PMID:31862442 PMID:31931849 PMID:32112655 PMID:32367299 PMID:32399949 PMID:32403337 PMID:32419263 PMID:32528171 PMID:32819793 PMID:32925086 PMID:33023636 PMID:33400223 PMID:33496727 PMID:33963534 PMID:34008892 PMID:34106991 PMID:34426522 PMID:34440373 PMID:35239206 PMID:35563815 PMID:35628876 PMID:35741838 PMID:36157496 PMID:36292621 PMID:36352632 PMID:36913258 PMID:37526466 PMID:15124103 PMID:23047743 More...
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RGD:11570566, RGD:11570556 |
NCBI chr 1:101,086,490...101,187,547
|
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G |
Fancf |
FA complementation group F |
|
ISO |
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:110,585,054...110,587,870
|
|
G |
Slc17a6 |
solute carrier family 17 member 6 |
|
ISO |
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:101,212,489...101,252,543
|
|
|
G |
Actrt2 |
actin-related protein T2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr 5:170,518,470...170,519,870
|
|
G |
Agpat5 |
1-acylglycerol-3-phosphate O-acyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Keloid formation |
ClinVar |
PMID:28905881 |
|
NCBI chr16:70,939,480...70,985,745
|
|
G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr14:17,891,564...17,907,043
|
|
G |
Arhgdia |
Rho GDP dissociation inhibitor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr10:106,352,858...106,356,347
|
|
G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Keloid formation |
ClinVar |
PMID:28492532 PMID:28905881 |
|
NCBI chr16:57,669,927...57,701,349
|
|
G |
Aspn |
asporin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr17:15,079,910...15,104,369
|
|
G |
Capg |
capping actin protein, gelsolin like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr 4:106,152,912...106,170,010
|
|
G |
Clic1 |
chloride intracellular channel 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr20:3,769,522...3,778,367
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr10:80,380,458...80,397,461
|
|
G |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr 9:54,866,646...54,902,578
|
|
G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr 3:11,208,429...11,356,715
|
|
G |
Crabp1 |
cellular retinoic acid binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr 8:55,138,363...55,159,360
|
|
G |
Eif5a |
eukaryotic translation initiation factor 5A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr10:55,138,821...55,143,272
|
|
G |
Fgg |
fibrinogen gamma chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr 2:168,354,880...168,362,325
|
|
G |
Foxl2 |
forkhead box L2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20711176 |
|
NCBI chr 8:99,512,971...99,514,500
|
|
G |
Fth1 |
ferritin heavy chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr 1:216,052,037...216,054,325
|
|
G |
Ftl1 |
ferritin light chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr 1:105,072,858...105,074,705
|
|
G |
Hbb-b1 |
hemoglobin, beta adult major chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr 1:167,636,064...167,643,577
|
|
G |
Lgals1 |
galectin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr 7:112,365,695...112,368,801
|
|
G |
Mif |
macrophage migration inhibitory factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr20:12,790,919...12,791,784
|
|
G |
Mydgf |
myeloid-derived growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr 9:999,659...1,008,804
|
|
G |
Myl6b |
myosin light chain 6B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr X:44,450,733...44,451,711
|
|
G |
Nedd4 |
NEDD4 E3 ubiquitin protein ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20711176 |
|
NCBI chr 8:82,264,751...82,349,642
|
|
G |
Pfn1 |
profilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr10:55,863,882...55,866,587
|
|
G |
Prdx1 |
peroxiredoxin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr 5:135,383,906...135,399,504
|
|
G |
Prdx2 |
peroxiredoxin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr19:23,180,927...23,186,217
|
|
G |
Ran |
RAN, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20128793 |
|
NCBI chr12:27,674,049...27,678,598
|
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