|
G |
Adgrg6 |
adhesion G protein-coupled receptor G6 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:26004201 PMID:26752647 |
|
NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123
|
|
G |
Aven |
apoptosis and caspase activation inhibitor |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634
|
|
G |
Chrng |
cholinergic receptor nicotinic gamma subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16826520 PMID:16826531 |
|
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
|
|
G |
Ecel1 |
endothelin converting enzyme-like 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31694722 |
|
NCBI chr 9:87,814,434...87,829,154
Ensembl chr 9:87,816,718...87,826,675
|
|
G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18628313 |
|
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
|
|
G |
Ergic1 |
endoplasmic reticulum-golgi intermediate compartment 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28317099 PMID:31230720 |
|
NCBI chr10:16,531,192...16,627,183
Ensembl chr10:16,531,194...16,626,957
|
|
G |
Gle1 |
GLE1 RNA export mediator |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
|
|
G |
Kif1b |
kinesin family member 1B |
|
ISO |
ClinVar Annotator: match by term: Guérin-Stern syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
|
|
G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
|
|
G |
Myh8 |
myosin heavy chain 8 |
|
ISO ISS |
Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q |
MouseDO RGD |
PMID:15282353 |
RGD:1600548 |
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
|
|
G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome |
ClinVar |
PMID:20839240 PMID:21911697 PMID:23394784 PMID:23826317 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:28818389 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 More...
|
|
NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
|
|
G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
|
|
G |
Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
|
ISO |
ClinVar Annotator: match by term: Guérin-Stern syndrome |
ClinVar |
PMID:20220177 PMID:21291453 PMID:22950825 PMID:23806086 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26794302 PMID:28492532 More...
|
|
NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
|
|
G |
Slc35a3 |
solute carrier family 35 member A3 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319
|
|
G |
Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
|
ISO ISS |
DNA:mutation:splice junction: |
MouseDO RGD |
PMID:19542096 |
RGD:13209012 |
NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
|
|
G |
Tnni2 |
troponin I2, fast skeletal type |
|
ISO ISS |
distal arthrogryposis type 2B, OMIM:601680 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
MouseDO ClinVar RGD |
PMID:25741868 PMID:12592607 |
RGD:1599481 |
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
|
|
G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
distal arthrogryposis type 2B, OMIM:601680 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:12865991 |
RGD:1599490 |
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
|
|
G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
|
|
G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO ISS |
ARC syndrome, OMIM:208085 |
MouseDO RGD |
PMID:15052268 |
RGD:1599749 |
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
|
|
|
G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20190753 |
|
NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
|
|
G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
|
|
|
G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis |
ClinVar |
PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 PMID:31559918 More...
|
|
NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
|
|
|
G |
Neb |
nebulin |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 |
OMIM ClinVar |
PMID:9536098 PMID:10051637 PMID:12207937 PMID:15221447 PMID:16199547 PMID:17576681 PMID:19232495 PMID:19346529 PMID:21798101 PMID:22183965 PMID:22367672 PMID:23572184 PMID:24033266 PMID:25079567 PMID:25205138 PMID:25205148 PMID:25741868 PMID:25741874 PMID:26403434 PMID:26467025 PMID:26578207 PMID:26841830 PMID:27933661 PMID:28336317 PMID:28492532 PMID:29274205 PMID:32222963 PMID:32721234 PMID:33376055 More...
|
|
NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
|
|
G |
Rif1 |
replication timing regulatory factor 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617
|
|
|
G |
Lgi4 |
leucine-rich repeat LGI family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect |
OMIM ClinVar |
PMID:25741868 PMID:28318499 PMID:32860008 |
|
NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
|
|
|
G |
Esr1 |
estrogen receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type |
ClinVar |
PMID:25741868 PMID:27782104 |
|
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
|
|
G |
Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type |
OMIM ClinVar |
PMID:19542096 PMID:24319099 PMID:24838835 PMID:25741868 PMID:26467025 PMID:27086870 PMID:27178001 PMID:27782104 PMID:28492532 More...
|
|
NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
|
|
|
G |
Scyl2 |
SCY1 like pseudokinase 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum |
OMIM ClinVar |
PMID:25741868 PMID:31960134 |
|
NCBI chr 7:24,064,404...24,117,338
Ensembl chr 7:24,064,404...24,117,305
|
|
|
G |
Tor1a |
torsin family 1, member A |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 |
OMIM ClinVar |
PMID:18827015 PMID:25741868 PMID:28516161 PMID:29053766 PMID:30244176 PMID:34008892 More...
|
|
NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691
|
|
|
G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development |
OMIM ClinVar |
PMID:25741868 PMID:29432562 |
|
NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
|
|
|
G |
Agl |
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
|
ISO |
ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome |
ClinVar |
PMID:19299494 PMID:24031089 PMID:28328131 PMID:28492532 |
|
NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
|
|
G |
Slc35a3 |
solute carrier family 35 member A3 |
|
ISO |
ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19299494 PMID:19763152 PMID:20307669 PMID:22406018 PMID:24031089 PMID:25741868 PMID:28328131 PMID:28492532 PMID:28777481 PMID:33416188 More...
|
|
NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319
|
|
|
G |
Nek9 |
NIMA-related kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy |
OMIM ClinVar |
PMID:25741868 PMID:26633546 PMID:28492532 |
|
NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
|
|
|
G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
|
|
G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 PMID:31319225 |
|
NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
|
|
G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
OMIM ClinVar |
PMID:8151641 PMID:11668108 PMID:15052268 PMID:16896922 PMID:17994566 PMID:18853461 PMID:19274792 PMID:21851503 PMID:22753090 PMID:24782640 PMID:24917129 PMID:25741868 PMID:26505894 PMID:28492532 PMID:31479177 More...
|
|
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
|
|
|
G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 |
OMIM ClinVar |
PMID:20190753 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
|
|
|
G |
Fkbp10 |
FKBP prolyl isomerase 10 |
|
ISS ISO |
OMIM:259450 | OMIM:609220 ClinVar Annotator: match by term: Bruck syndrome |
MouseDO ClinVar |
PMID:25741868 |
|
NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
|
|
G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
|
ISS |
OMIM:259450 | OMIM:609220 |
MouseDO |
|
|
NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
|
|
|
G |
Fkbp10 |
FKBP prolyl isomerase 10 |
|
ISO |
ClinVar Annotator: match by term: Bruck syndrome 1 |
OMIM ClinVar |
PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:23712425 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 PMID:30715774 More...
|
|
NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
|
|
|
G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Bruck syndrome 2 |
OMIM ClinVar |
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28116328 PMID:28492532 PMID:29177700 PMID:29178448 PMID:32655337 More...
|
|
NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
|
|
|
G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
DNA:missense mutations:p.R616W, p.D681N (human) ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 |
ClinVar OMIM RGD |
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:9651581 PMID:11443545 PMID:11710928 PMID:11734544 PMID:12820975 PMID:15494306 PMID:18510925 PMID:18637129 PMID:19434073 PMID:19470925 PMID:19931493 PMID:19934020 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24728327 PMID:25620205 PMID:25741868 PMID:26344056 PMID:26556299 PMID:26884178 PMID:27004399 PMID:27396511 PMID:28492532 PMID:29169765 PMID:29478780 PMID:11443545 More...
|
RGD:1601070 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
|
|
|
G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 |
OMIM ClinVar |
PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 |
|
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
|
|
G |
Polr1g |
RNA polymerase I subunit G |
|
ISO |
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33116287 |
|
NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
|
|
|
G |
Gle1 |
GLE1 RNA export mediator |
|
ISO |
ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease |
OMIM ClinVar |
PMID:18204449 PMID:24243016 PMID:24961629 PMID:25741868 PMID:27684565 PMID:28492532 PMID:28657126 PMID:28884921 PMID:29899397 More...
|
|
NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
|
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly |
ClinVar OMIM RGD |
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 PMID:8900230 PMID:9106527 PMID:9199560 PMID:9536098 PMID:9737771 PMID:10797416 PMID:11285249 PMID:11470817 PMID:11754102 PMID:16199547 PMID:16531736 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:20301560 PMID:20799338 PMID:22325249 PMID:22438950 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25326635 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:28166811 PMID:28383543 PMID:28492532 PMID:29501612 PMID:29926239 PMID:30675029 PMID:31316167 PMID:32534992 PMID:34008892 PMID:11754102 More...
|
RGD:1300364 |
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
|
|
|
G |
Ecel1 |
endothelin converting enzyme-like 1 |
|
ISS |
OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 |
MouseDO |
|
|
NCBI chr 9:87,814,434...87,829,154
Ensembl chr 9:87,816,718...87,826,675
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISS |
OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 |
MouseDO |
|
|
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
|
|
G |
Klhl7 |
kelch-like family member 7 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:18414213 PMID:25741868 PMID:29074562 |
|
NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
|
|
G |
Mybpc1 |
myosin binding protein C1 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957
|
|
G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
|
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
|
|
G |
Myl11 |
myosin light chain 11 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:32707087 |
|
NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545
|
|
G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
|
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
|
|
G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
|
|
G |
Tnni2 |
troponin I2, fast skeletal type |
|
ISS ISO |
OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis |
MouseDO ClinVar |
PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 |
|
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
|
|
G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:22581970 PMID:23924366 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 PMID:31836858 More...
|
|
NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
|
|
|
G |
Myh8 |
myosin heavy chain 8 |
|
ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I |
ClinVar |
PMID:25741868 |
|
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
|
|
|
G |
Ccin |
calicin |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
|
|
G |
Clta |
clathrin, light chain A |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
|
|
G |
Cntnap1 |
contactin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 |
|
NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
|
|
G |
Creb3 |
cAMP responsive element binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,817,835...57,823,171
Ensembl chr 5:57,817,832...57,824,390
|
|
G |
Fam221b |
family with sequence similarity 221, member B |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
|
|
G |
Gba2 |
glucosylceramidase beta 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
|
|
G |
Glipr2 |
GLI pathogenesis-related 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,170,417...58,200,947
Ensembl chr 5:58,170,425...58,202,272
|
|
G |
Gne |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
|
|
G |
Hint2 |
histidine triad nucleotide binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
|
|
G |
Hrct1 |
histidine rich carboxyl terminus 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,982,409...57,983,186
Ensembl chr 5:57,982,470...57,982,790
|
|
G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
|
|
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
|
|
G |
Msmp |
microseminoprotein, prostate associated |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
|
|
G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:25741868 |
|
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
|
|
G |
Myh8 |
myosin heavy chain 8 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:25741868 |
|
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
|
|
G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
|
|
G |
Olr834 |
olfactory receptor 834 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
|
|
G |
Olr840 |
olfactory receptor 840 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
|
|
G |
Reck |
reversion-inducing-cysteine-rich protein with kazal motifs |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502
|
|
G |
Rgp1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
|
|
G |
Spag8 |
sperm associated antigen 8 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
|
|
G |
Tln1 |
talin 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
|
|
G |
Tmem8b |
transmembrane protein 8B |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
|
|
G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
OMIM ClinVar |
PMID:7977374 PMID:11738357 PMID:12592607 PMID:17194691 PMID:17339586 PMID:17846275 PMID:18414213 PMID:18422639 PMID:19155175 PMID:22084935 PMID:22832343 PMID:23678273 PMID:23689010 PMID:23757202 PMID:23886664 PMID:24033266 PMID:24657080 PMID:24692096 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27726070 PMID:27854218 PMID:28492532 PMID:31966463 PMID:32092148 More...
|
|
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
|
|
|
G |
Mybpc1 |
myosin binding protein C1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B |
OMIM ClinVar |
PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 PMID:25741868 PMID:26287277 PMID:28492532 More...
|
|
NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957
|
|
|
G |
Myl11 |
myosin light chain 11 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C |
OMIM ClinVar |
PMID:32707087 |
|
NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545
|
|
|
G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) |
OMIM ClinVar |
PMID:16642020 PMID:18695058 PMID:25256237 PMID:25741868 PMID:30826400 |
|
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
|
|
|
G |
Myh3 |
myosin heavy chain 3 |
|
ISO ISS |
DNA:missense mutation:exon:p.A234T (769C>T) (human) ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities |
MouseDO ClinVar RGD |
PMID:25741868 PMID:18695058 |
RGD:12792960 |
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
|
|
G |
Tnni2 |
troponin I2, fast skeletal type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
|
|
G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO ISS |
ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B |
ClinVar MouseDO |
PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:25337069 PMID:25741868 More...
|
|
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
|
|
|
G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 |
ClinVar |
PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:19142688 PMID:25741868 PMID:28492532 PMID:28779239 PMID:29805041 PMID:32902138 More...
|
|
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
|
|
G |
Tnni2 |
troponin I2, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 |
OMIM ClinVar |
PMID:12592607 PMID:17101001 PMID:17194691 PMID:23401156 PMID:23850728 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
|
|
G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
|
|
G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
|
|
|
G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 |
OMIM ClinVar |
PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:25337069 PMID:25741868 More...
|
|
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
|
|
|
G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall) |
OMIM ClinVar |
PMID:16642020 PMID:18414213 PMID:18695058 PMID:25256237 PMID:25741868 PMID:28492532 PMID:29625835 PMID:29805041 PMID:30826400 More...
|
|
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
|
|
|
G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4 |
ClinVar |
PMID:17339586 PMID:23678273 PMID:24692096 PMID:25741868 PMID:27726070 PMID:28492532 PMID:30285720 PMID:32092148 More...
|
|
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
|
|
|
G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Gordon syndrome |
OMIM ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:28492532 PMID:30285720 PMID:31680123 More...
|
|
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
|
|
|
G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome |
OMIM ClinVar |
PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 PMID:23487782 PMID:24726473 PMID:25741868 PMID:27714920 PMID:28492532 PMID:31680123 PMID:32860008 More...
|
|
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
|
|
|
G |
Ecel1 |
endothelin converting enzyme-like 1 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 5D |
OMIM ClinVar |
PMID:18414213 PMID:23236030 PMID:23261301 PMID:25099528 PMID:25173900 PMID:25741868 PMID:26752647 PMID:31694722 More...
|
|
NCBI chr 9:87,814,434...87,829,154
Ensembl chr 9:87,816,718...87,826,675
|
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome |
ClinVar |
PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098 PMID:11754102 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:28166811 PMID:28492532 PMID:29926239 PMID:34008892 More...
|
|
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
|
|
G |
Myh8 |
myosin heavy chain 8 |
|
ISO |
ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human) |
OMIM ClinVar RGD |
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 PMID:15590965 PMID:17041932 PMID:18049072 PMID:18414213 PMID:20949528 PMID:25305228 PMID:25741868 PMID:28492532 PMID:17041932 More...
|
RGD:12914760 |
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
|
|
|
G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch |
OMIM ClinVar |
PMID:25741868 PMID:27607563 PMID:27653382 PMID:27843126 PMID:27974811 PMID:28492532 PMID:31680123 More...
|
|
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
|
|
|
G |
Dse |
dermatan sulfate epimerase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 |
OMIM ClinVar |
PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 |
|
NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
|
|
|
G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:2261499 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 PMID:18165682 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:25033858 PMID:25237101 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26583494 PMID:27391121 PMID:28492532 More...
|
|
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
|
|
G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:2245297 PMID:12651869 PMID:15145336 PMID:15282317 PMID:19620612 PMID:22326364 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
|
|
G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 |
ClinVar |
PMID:20839240 PMID:21911697 PMID:23394784 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 More...
|
|
NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
|
|
|
G |
Acp2 |
acid phosphatase 2, lysosomal |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680
|
|
G |
Acta1 |
actin, alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
|
|
G |
Adss1 |
adenylosuccinate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 |
|
NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
|
|
G |
Aldh5a1 |
aldehyde dehydrogenase 5 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
|
|
G |
Arfgap2 |
ADP-ribosylation factor GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455
|
|
G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
|
|
G |
Ascc1 |
activating signal cointegrator 1 complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28749478 PMID:31680123 |
|
NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
|
|
G |
Aspm |
assembly factor for spindle microtubules |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
|
|
G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
|
|
G |
Aven |
apoptosis and caspase activation inhibitor |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634
|
|
G |
Bltp1 |
bridge-like lipid transfer protein family member 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695
|
|
G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
|
|
G |
Cntnap1 |
contactin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
|
|
G |
Cstpp1 |
centriolar satellite-associated tubulin polyglutamylase complex regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274
|
|
G |
Ddb2 |
damage specific DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631
|
|
G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:17576681 PMID:18161030 PMID:18165682 PMID:18414213 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20603078 PMID:20610155 PMID:21041412 PMID:21520333 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25849006 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28492532 PMID:28508085 PMID:28716243 PMID:29054425 PMID:29118959 PMID:29395675 PMID:30266093 PMID:31618753 PMID:31880392 More...
|
|
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
|
|
G |
Dqx1 |
DEAQ box RNA-dependent ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590
|
|
G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
|
|
G |
Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
|
|
G |
Exosc3 |
exosome component 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:22544365 PMID:23883322 PMID:25741868 PMID:28053271 PMID:28492532 PMID:30221345 More...
|
|
NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
|
|
G |
Fbln1 |
fibulin 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25558065 |
|
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
|
|
G |
Gbe1 |
1,4-alpha-glucan branching enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
|
|
G |
Gcn1 |
GCN1 activator of EIF2AK4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr12:40,991,512...41,052,661
Ensembl chr12:40,991,512...41,052,555
|
|
G |
Gfra4 |
GDNF family receptor alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329
|
|
G |
Gldn |
gliomedin |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
|
|
G |
Iqsec3 |
IQ motif and Sec7 domain ArfGEF 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310
|
|
G |
Lgi4 |
leucine-rich repeat LGI family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
|
|
G |
Madd |
MAP-kinase activating death domain |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
|
|
G |
Magi3 |
membrane associated guanylate kinase, WW and PDZ domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735
|
|
G |
Musk |
muscle associated receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
OMIM ClinVar |
PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 PMID:17576681 PMID:18414213 PMID:23326516 PMID:24122059 PMID:25262156 PMID:25537362 PMID:25612909 PMID:25640679 PMID:25695962 PMID:25741868 PMID:25900532 PMID:26467025 PMID:28492532 PMID:29663639 PMID:30429133 PMID:31750350 PMID:32253145 More...
|
|
NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
|
|
G |
Mybpc3 |
myosin binding protein C3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
|
|
G |
Naga |
alpha-N-acetylgalactosaminidase |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
|
|
G |
Nalcn |
sodium leak channel, non-selective |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:27214504 PMID:31680123 |
|
NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
|
|
G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
|
|
G |
Pacsin3 |
protein kinase C and casein kinase substrate in neurons 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811
|
|
G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:27974811 PMID:31680123 More...
|
|
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
|
|
G |
Prg4 |
proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
|
|
G |
Prickle1 |
prickle planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
|
|
G |
Psmc3 |
proteasome 26S subunit, ATPase 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
|
|
G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders |
ClinVar |
PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15145336 PMID:15282317 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16199547 PMID:16931511 PMID:16945936 PMID:17190963 PMID:17576681 PMID:17594401 PMID:17686188 PMID:17878953 PMID:18179903 PMID:19620612 PMID:20157724 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:21520333 PMID:22326364 PMID:22678886 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:25741902 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:27966543 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:29478601 PMID:30124556 PMID:30266223 PMID:31680123 PMID:32070632 PMID:32528171 PMID:33502061 PMID:34106991 More...
|
|
NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
|
|
G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
|
|
G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence |
ClinVar |
PMID:20839240 PMID:21911697 PMID:23394784 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 More...
|
|
NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
|
|
G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
|
|
G |
Scn4a |
sodium voltage-gated channel alpha subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
|
|
G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
|
|
G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
|
|
G |
Setbp1 |
SET binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 PMID:31680123 PMID:34782754 More...
|
|
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
|
|
G |
Slc39a13 |
solute carrier family 39 member 13 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
|
|
G |
Spag16 |
sperm associated antigen 16 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 9:71,333,005...72,252,772
Ensembl chr 9:71,332,992...72,252,708
|
|
G |
Spi1 |
Spi-1 proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:17686188 PMID:28492532 |
|
NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
|
|
G |
Tmpo |
thymopoietin |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
|
|
G |
Unc50 |
unc-50 inner nuclear membrane RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 9:39,664,944...39,674,369
Ensembl chr 9:39,664,971...39,672,890
|
|
G |
Vps13d |
vacuolar protein sorting 13 homolog D |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
|
|
G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
|
|
|
G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 |
OMIM ClinVar |
PMID:2245297 PMID:12651869 PMID:14504330 PMID:15145336 PMID:15282317 PMID:18179903 PMID:18252226 PMID:19620612 PMID:22326364 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
|
|
|
G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 |
OMIM ClinVar |
PMID:2261499 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 PMID:18165682 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:25033858 PMID:25237101 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26583494 PMID:27391121 PMID:28492532 PMID:31880392 More...
|
|
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
|
|
|
G |
Nup88 |
nucleoporin 88 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 |
OMIM ClinVar |
PMID:25741868 PMID:30543681 |
|
NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257
|
|
G |
Rabep1 |
rabaptin, RAB GTPase binding effector protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 |
ClinVar |
PMID:25741868 |
|
NCBI chr10:55,566,156...55,667,595
Ensembl chr10:55,566,185...55,665,973
|
|
|
G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome |
CTD ClinVar |
PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18695058 PMID:19142688 PMID:20924721 PMID:25256237 PMID:25740846 PMID:25741868 PMID:26945064 PMID:28492532 PMID:29805041 PMID:30379605 PMID:30826400 PMID:32902138 More...
|
|
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
|
|
|
G |
Cacna1s |
calcium voltage-gated channel subunit alpha1 S |
|
ISO |
ClinVar Annotator: match by term: Hereditary liability to pressure palsies |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
|
|
G |
Lmna |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Hereditary liability to pressure palsies |
ClinVar |
PMID:16288874 |
|
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
|
|
G |
Pmp22 |
peripheral myelin protein 22 |
|
ISO |
ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies | ClinVar Annotator: match by term: Hereditary liability to pressure palsies | ClinVar Annotator: match by term: Tomaculous neuropathy |
OMIM ClinVar |
PMID:7649472 PMID:7825607 PMID:8012388 PMID:8252046 PMID:8422677 PMID:8541860 PMID:8988161 PMID:9040737 PMID:9371959 PMID:9452099 PMID:9678704 PMID:9712007 PMID:10078969 PMID:10211478 PMID:10586280 PMID:11081809 PMID:12439896 PMID:12796555 PMID:14502374 PMID:15205993 PMID:15474367 PMID:15537650 PMID:15955700 PMID:16288874 PMID:16437560 PMID:17620487 PMID:18698610 PMID:19067730 PMID:19691535 PMID:20842290 PMID:21194947 PMID:21228398 PMID:21252112 PMID:21670407 PMID:21692910 PMID:21962505 PMID:24239057 PMID:24646194 PMID:25400662 PMID:25741868 PMID:26012543 PMID:26102530 PMID:26392352 PMID:26467025 PMID:28333917 PMID:28374912 PMID:28492532 PMID:30675404 PMID:31664448 PMID:32513719 PMID:32719652 More...
|
|
NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
|
|
|
G |
Nalcn |
sodium leak channel, non-selective |
|
ISO |
ClinVar Annotator: match by term: Intellectual disability with episodic ataxia and congenital arthrogryposis |
ClinVar |
PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:28454995 PMID:28492532 More...
|
|
NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
|
|
|
G |
Adcy6 |
adenylate cyclase 6 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 7:129,742,827...129,763,922
Ensembl chr 7:129,742,838...129,763,754
|
|
G |
Adgrg6 |
adhesion G protein-coupled receptor G6 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123
|
|
G |
Cntnap1 |
contactin associated protein 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
|
|
G |
Dnm2 |
dynamin 2 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
|
|
G |
Gldn |
gliomedin |
|
ISS |
|
MouseDO |
|
|
NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
|
|
G |
Gle1 |
GLE1 RNA export mediator |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome |
ClinVar |
|
|
NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
|
|
G |
Nek9 |
NIMA-related kinase 9 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
|
|
G |
Zbtb42 |
zinc finger and BTB domain containing 42 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685
|
|
|
G |
Gle1 |
GLE1 RNA export mediator |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18204449 PMID:24243016 PMID:24961629 PMID:25741868 PMID:28492532 PMID:28884921 PMID:29899397 More...
|
|
NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
|
|
|
G |
Nek9 |
NIMA-related kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10 |
OMIM ClinVar |
PMID:25741868 PMID:26908619 |
|
NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
|
|
|
G |
Gldn |
gliomedin |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11 |
OMIM ClinVar |
PMID:25741868 PMID:27616481 PMID:28492532 PMID:28726266 PMID:31680123 PMID:31680349 PMID:32860008 More...
|
|
NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
|
|
|
G |
Erbb3 |
erb-b2 receptor tyrosine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2 | ClinVar Annotator: match by term: Multiple contracture syndrome, Israeli Bedouin type |
OMIM ClinVar |
PMID:17701904 PMID:25741868 |
|
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
|
|
|
G |
Pip5k1c |
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 |
OMIM ClinVar |
PMID:17701898 PMID:25741868 |
|
NCBI chr 7:8,397,406...8,426,030
Ensembl chr 7:8,397,406...8,425,988
|
|
|
G |
Mybpc1 |
myosin binding protein C1 |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4 |
OMIM ClinVar |
PMID:18414213 PMID:22610851 PMID:25741868 |
|
NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957
|
|
|
G |
Dnm2 |
dynamin 2 |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5 |
OMIM ClinVar |
PMID:23092955 PMID:25741868 |
|
NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
|
|
|
G |
Zbtb42 |
zinc finger and BTB domain containing 42 |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6 |
OMIM ClinVar |
PMID:25055871 PMID:25741868 |
|
NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685
|
|
|
G |
Cntnap1 |
contactin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 |
OMIM ClinVar |
PMID:24319099 PMID:25741868 PMID:27668699 PMID:27818385 PMID:28254648 PMID:28374019 PMID:28492532 More...
|
|
NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
|
|
G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 |
ClinVar |
|
|
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
|
|
|
G |
Adcy6 |
adenylate cyclase 6 |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 |
OMIM ClinVar |
PMID:23806086 PMID:24088041 PMID:24319099 PMID:25741868 PMID:26257172 PMID:31846058 More...
|
|
NCBI chr 7:129,742,827...129,763,922
Ensembl chr 7:129,742,838...129,763,754
|
|
G |
Tex49 |
testis expressed 49 |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 |
ClinVar |
PMID:24319099 |
|
NCBI chr 7:129,720,950...129,742,485
Ensembl chr 7:129,720,950...129,742,485
|
|
|
G |
Adgrg6 |
adhesion G protein-coupled receptor G6 |
|
ISO |
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9 |
OMIM ClinVar |
PMID:25741868 PMID:26004201 PMID:26752647 |
|
NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123
|
|
|
G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
|
ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
OMIM ClinVar |
PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 PMID:9536098 PMID:10195214 PMID:14719537 PMID:15907919 PMID:16199547 PMID:17576681 PMID:18252226 PMID:18806275 PMID:22406191 PMID:22728938 PMID:23037934 PMID:25348405 PMID:25450229 PMID:25741868 PMID:25741885 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:30177536 PMID:31680349 PMID:33216040 More...
|
|
NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
|
|
G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
|
ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
OMIM ClinVar |
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 PMID:16916845 PMID:17576681 PMID:18252226 PMID:18414213 PMID:19526372 PMID:21532570 PMID:24033266 PMID:25264167 PMID:25741868 PMID:26467025 PMID:28024842 PMID:28492532 PMID:31560172 PMID:32070632 PMID:32528171 More...
|
|
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
|
|
G |
Chrng |
cholinergic receptor nicotinic gamma subunit |
|
ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
OMIM ClinVar |
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:31680349 PMID:33060286 PMID:34440395 More...
|
|
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
|
|
G |
Prss56 |
serine protease 56 |
|
ISO |
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome |
ClinVar |
PMID:19526372 PMID:21532570 PMID:24033266 PMID:28492532 |
|
NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
|
|
|
G |
Smpd4 |
sphingomyelin phosphodiesterase 4 |
|
ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies |
OMIM ClinVar |
PMID:25741868 PMID:31495489 |
|
NCBI chr11:83,362,534...83,386,257
Ensembl chr11:83,362,534...83,386,250
|
|
|
G |
Ergic1 |
endoplasmic reticulum-golgi intermediate compartment 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type |
OMIM ClinVar |
PMID:5491443 PMID:28317099 |
|
NCBI chr10:16,531,192...16,627,183
Ensembl chr10:16,531,194...16,626,957
|
|
G |
Lgi4 |
leucine-rich repeat LGI family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
|
|
|
G |
Pi4ka |
phosphatidylinositol 4-kinase alpha |
|
ISO |
ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
OMIM ClinVar |
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 |
|
NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
|
|
|
G |
Cyfip1 |
cytoplasmic FMR1 interacting protein 1 |
|
ISO |
associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) |
RGD |
PMID:17435464 |
RGD:11558012 |
NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
|
|
G |
Magel2 |
MAGE family member L2 |
|
ISO |
ClinVar Annotator: match by term: Schaaf-Yang syndrome |
OMIM ClinVar |
PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25741868 PMID:26365340 PMID:26633545 PMID:27195816 PMID:27632685 PMID:28281571 PMID:28492532 PMID:29581464 PMID:29599419 PMID:29660409 PMID:30302899 PMID:31152388 PMID:31397880 PMID:31680349 PMID:32860008 PMID:33371171 More...
|
|
NCBI chr 1:115,880,137...115,884,680
Ensembl chr 1:115,880,474...115,884,250
|
|
G |
Sim1 |
SIM bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Schaaf-Yang syndrome |
ClinVar |
|
|
NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
|
|
|
G |
Kidins220 |
kinase D-interacting substrate 220 |
|
ISO |
ClinVar Annotator: match by term: VENTRICULOMEGALY AND ARTHROGRYPOSIS |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28934391 PMID:32909676 PMID:33205811 |
|
NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256
|
|
|
G |
Uba1 |
ubiquitin-like modifier activating enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18179898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29034082 PMID:32181232 PMID:33108101 PMID:33690815 More...
|
|
NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
|
|
G |
Zc4h2 |
zinc finger C4H2-type containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23623388 |
|
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
|
|