RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: arthrogryposis multiplex congenita
Accession: DOID:0080954
browse the term
Definition: A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. (DO)
Synonyms: exact_synonym: Arthrogryposis; Congenital Arthromyodysplasia; Congenital Arthromyodysplasias; Congenital Multiple Arthrogryposes; Congenital Multiple Arthrogryposis; Fibrous Ankylosis of Multiple Joints; Guerin Stern Syndrome; Guérin Stern Syndrome; Myodystrophia Fetalis Deformans; Otto syndrome; Rocher Sheldon syndrome; Rossi syndrome; amyoplasia congenita; arthrogryposes; arthrogryposis multiplex congenita (AMC); muscular dystrophy and arthrogryposis
related_synonym: arthrogryposis due to muscular dystrophy; congenital muscular dystrophy producing arthrogryposis
primary_id: MESH:D001176
alt_id: DOID:0110631; DOID:9000338; MESH:C564985
xref: EFO:0003857 ; GARD:777 ; ICD10CM:M62.8 ; NCI:C84572 ; OMIM:PS617468
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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
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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
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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
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Ecel1
endothelin converting enzyme-like 1
ISO
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
ClinVar
PMID:25741868 PMID:31694722
NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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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
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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...16,626,974
Ensembl chr10:16,531,194...16,626,957
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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
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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
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Myh8
myosin heavy chain 8
ISO
Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q
RGD
PMID:15282353
RGD:1600548
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome | ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis
ClinVar
PMID:20839240 PMID:21911697 PMID:22473935 PMID:22526018 PMID:23394784 PMID:23826317 PMID:24195946 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:28818389 PMID:30611313 PMID:30652412 PMID:31407473 PMID:31559918 PMID:31680123 PMID:32978841 PMID:34463354 More...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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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
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Sh3tc2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Guérin-Stern syndrome
ClinVar
PMID:20220177 PMID:20301641 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
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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
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Syne1
spectrin repeat containing nuclear envelope protein 1
ISO
DNA:mutation:splice junction:
RGD
PMID:19542096
RGD:13209012
NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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Tnni2
troponin I2, fast skeletal type
ISO
distal arthrogryposis type 2B, OMIM:601680 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
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
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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
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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
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Vps33b
VPS33B, late endosome and lysosome associated
ISO
ARC syndrome, OMIM:208085
RGD
PMID:15052268
RGD:1599749
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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Vipas39
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:20190753
NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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Vps33b
VPS33B, late endosome and lysosome associated
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome
CTD MouseDO ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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Otof
otoferlin
ISO
ClinVar Annotator: match by term: Trichooculodermovertebral syndrome
ClinVar
PMID:35802133 PMID:36633841
NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
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Lgi4
leucine-rich repeat LGI family, member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
OMIM CTD ClinVar
PMID:25741868 PMID:25954003 PMID:27618451 PMID:28318499 PMID:28490743 PMID:28492532 PMID:32860008 More...
NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
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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
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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
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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
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Tor1a
torsin family 1, member A
ISO
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5
OMIM ClinVar
PMID:9288096 PMID:11523564 PMID:17503336 PMID:18519876 PMID:18827015 PMID:25741868 PMID:28492532 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
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Neb
nebulin
ISO
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6
OMIM ClinVar
PMID:9536098 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
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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
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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:28492532 PMID:29432562 PMID:30904718
NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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Agl
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
ISO
ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome
ClinVar
PMID:24031089 PMID:28328131 PMID:28492532
NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
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Slc35a3
solute carrier family 35 member A3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:22406018 PMID:24031089 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28328131 PMID:28490743 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
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Nek9
NIMA-related kinase 9
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy
OMIM CTD 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
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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
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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
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Vps33b
VPS33B, late endosome and lysosome associated
ISO
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1
OMIM ClinVar
PMID:8151641 PMID:9536098 PMID:11668108 PMID:15052268 PMID:16896922 PMID:17576681 PMID:17994566 PMID:18853461 PMID:19274792 PMID:21851503 PMID:22753090 PMID:24782640 PMID:24917129 PMID:25741868 PMID:26505894 PMID:28492532 PMID:29907094 PMID:31343487 PMID:31479177 More...
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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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 PMID:31479177
NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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Fkbp10
FKBP prolyl isomerase 10
ISO
ClinVar Annotator: match by term: Bruck syndrome
ClinVar
PMID:25741868
NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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Col1a2
collagen type I alpha 2 chain
ISO
ClinVar Annotator: match by term: Bruck syndrome 1
ClinVar
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Fkbp10
FKBP prolyl isomerase 10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bruck syndrome 1
OMIM CTD 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
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Plod2
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
ISO
ClinVar Annotator: match by term: Bruck syndrome 2 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:32655337 PMID:33664768 PMID:35278031 More...
NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
DNA:missense mutations:p.R616W, p.D681N (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
CTD ClinVar OMIM RGD
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9651581 PMID:11242112 PMID:11335038 PMID:11443545 PMID:11585917 PMID:11709541 PMID:11710928 PMID:11734544 PMID:12820975 PMID:15494306 PMID:15534626 PMID:16054878 PMID:18470933 PMID:18510924 PMID:18510925 PMID:18637129 PMID:18709642 PMID:19085937 PMID:19434073 PMID:19470925 PMID:19931493 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24514865 PMID:24728327 PMID:25002996 PMID:25431422 PMID:25620205 PMID:25741868 PMID:26344056 PMID:26556299 PMID:26577220 PMID:26884178 PMID:27004399 PMID:27396511 PMID:27504877 PMID:28492532 PMID:28749383 PMID:29169765 PMID:29478780 PMID:31282071 PMID:31803976 PMID:31937902 PMID:32047639 PMID:32830346 PMID:33095795 PMID:11443545 More...
RGD:1601070
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Klc3
kinesin light chain 3
ISO
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
ClinVar
PMID:25741868
NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
OMIM CTD ClinVar
PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 PMID:33315086 More...
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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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
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Gle1
GLE1 RNA export mediator
ISO
CTD Direct Evidence: marker/mechanism 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 CTD ClinVar
PMID:7770128 PMID:16892327 PMID:18204449 PMID:22484600 PMID:24243016 PMID:24961629 PMID:24970098 PMID:25741868 PMID:27684565 PMID:28492532 PMID:28657126 PMID:28884921 PMID:29899397 PMID:32537934 PMID:32954510 PMID:33726816 PMID:33820833 PMID:34490615 More...
NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
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Fbn2
fibrillin 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | 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 Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
CTD ClinVar OMIM RGD
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 PMID:8900230 PMID:9106527 PMID:9199560 PMID:9536098 PMID:9605585 PMID:9737771 PMID:10797416 PMID:11285249 PMID:11470817 PMID:11754102 PMID:15121784 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:24585410 PMID:24833718 PMID:24899048 PMID:25046119 PMID:25326635 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:26257771 PMID:27196565 PMID:28166811 PMID:28383543 PMID:28492532 PMID:28831199 PMID:29501612 PMID:29907982 PMID:29926239 PMID:30029678 PMID:30675029 PMID:31096651 PMID:31316167 PMID:31506931 PMID:32123317 PMID:32277046 PMID:32534992 PMID:32702406 PMID:33340101 PMID:33435129 PMID:33571691 PMID:33638605 PMID:33895855 PMID:34008892 PMID:11754102 More...
RGD:1300364
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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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 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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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 chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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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
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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
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Myh3
myosin heavy chain 3
ISO
ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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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
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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
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar
PMID:25741868
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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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
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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
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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:22135276 PMID:22581970 PMID:23924366 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26629787 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 PMID:31836858 PMID:34906470 PMID:36011334 PMID:36909829 More...
NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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Usp14
ubiquitin specific peptidase 14
ISO
ClinVar Annotator: match by term: Distal arthrogryposis and CNS involvement
ClinVar
PMID:25741868 PMID:35066879
NCBI chr18:1,018,111...1,057,727
Ensembl chr18:1,019,400...1,057,519
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I
ClinVar
PMID:30777867
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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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
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Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I
ClinVar
PMID:19155175 PMID:27726070 PMID:28492532
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 11
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:30777867
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Aptx
aprataxin
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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Aqp3
aquaporin 3 (Gill blood group)
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
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Aqp7
aquaporin 7
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
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Arhgef39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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Arid3c
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
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Atosb
atos homolog B
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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B4galt1
beta-1,4-galactosyltransferase 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
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Bag1
BAG cochaperone 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
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Car9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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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
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Ccl19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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Ccl27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Cd72
Cd72 molecule
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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Chmp5
charged multivesicular body protein 5
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529
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Cimip2b
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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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
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Cntfr
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
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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
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Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
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Dcaf12
DDB1 and CUL4 associated factor 12
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456
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Dctn3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
G
Dnai1
dynein, axonemal, intermediate chain 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
G
Dnaja1
DnaJ heat shock protein family (Hsp40) member A1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967
G
Dnajb5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
G
Enho
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
G
Exosc3
exosome component 3
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
G
Fam219a
family with sequence similarity 219, member A
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924
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
Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
G
Fbxo10
F-box protein 10
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348
G
Frmpd1
FERM and PDZ domain containing 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080
G
Galt
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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...58,202,258
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
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Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
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 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
G
Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
G
Kif24
kinesin family member 24
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
G
Melk
maternal embryonic leucine zipper kinase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:30777867
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
Myorg
myogenesis regulating glycosidase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
G
Ndufb6
NADH:ubiquinone oxidoreductase subunit B6
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181
G
Nfx1
nuclear transcription factor, X-box binding 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912
G
Nol6
nucleolar protein 6
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336
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
Nudt2
nudix hydrolase 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
G
Or13c7
olfactory receptor family 13 subfamily C member 7
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
Or13j1
olfactory receptor family 13 subfamily J member 1
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
Pax5
paired box 5
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
G
Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
G
Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
G
Polr1e
RNA polymerase I subunit E
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369
G
Prss3
serine protease 3
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562
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 5:58,102,961...58,169,516
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
Rig1
RNA sensor RIG-1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
G
Rnf38
ring finger protein 38
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446
G
Rpp25l
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
G
Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
G
Sigmar1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
G
Sit1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
G
Smu1
SMU1, DNA replication regulator and spliceosomal factor
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300
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
Spata31f1
SPATA31 subfamily F member 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
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Spata31g1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
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Spink4
serine peptidase inhibitor, Kazal type 4
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795
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Spmip6
sperm microtubule inner protein 6
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923
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Stoml2
stomatin like 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
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Tesk1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
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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
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Tmem215
transmembrane protein 215
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828
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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
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Tomm5
translocase of outer mitochondrial membrane 5
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269
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Topors
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
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Tpm2
tropomyosin 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
OMIM CTD ClinVar
PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 PMID:17194691 PMID:17339586 PMID:17576681 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 PMID:18789687 PMID:19047562 PMID:19155175 PMID:20301436 PMID:22084935 PMID:22749895 PMID:22832343 PMID:22980765 PMID:23401156 PMID:23678273 PMID:23689010 PMID:23757202 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24214167 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:26467025 PMID:26708479 PMID:26752647 PMID:27726070 PMID:27854218 PMID:28492532 PMID:30545627 PMID:31966463 PMID:32092148 PMID:33060286 More...
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Trmt10b
tRNA methyltransferase 10B
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526
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Ubap1
ubiquitin-associated protein 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152
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Ubap2
ubiquitin-associated protein 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049
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Ube2r2
ubiquitin-conjugating enzyme E2R 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513
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Unc13b
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
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Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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Zbtb5
zinc finger and BTB domain containing 5
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426
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Zcchc7
zinc finger CCHC-type containing 7
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300
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Mybpc1
myosin binding protein C1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B
OMIM CTD 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
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Myl11
myosin light chain 11
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C
OMIM ClinVar
PMID:25741868 PMID:32707087
NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545
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Myh3
myosin heavy chain 3
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon)
OMIM ClinVar
PMID:9536098 PMID:16642020 PMID:17576681 PMID:18695058 PMID:25256237 PMID:25741868 PMID:28492532 PMID:29805041 PMID:30826400 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Myh3
myosin heavy chain 3
ISO
DNA:missense mutation:exon:p.A234T (769C>T) (human) ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities
ClinVar RGD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29805041 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 PMID:18695058 More...
RGD:12792960
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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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
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Tnnt3
troponin T3, fast skeletal type
ISO
ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B
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
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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 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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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:25340332 PMID:25741868 PMID:26526134 PMID:27790376 PMID:28492532 More...
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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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
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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
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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
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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:26578207 PMID:28492532 PMID:29625835 PMID:29805041 PMID:30826400 PMID:31030430 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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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
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Gordon syndrome
OMIM CTD ClinVar
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 PMID:27714920 PMID:27843126 PMID:28492532 PMID:30285720 PMID:31680123 More...
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
OMIM CTD 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 PMID:32901917 More...
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Ecel1
endothelin converting enzyme-like 1
ISO
ClinVar Annotator: match by term: Distal arthrogryposis type 5D CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18414213 PMID:23236030 PMID:23261301 PMID:24782201 PMID:25099528 PMID:25173900 PMID:25741868 PMID:26752647 PMID:28492532 PMID:31694722 PMID:32566668 PMID:33672664 PMID:33820833 More...
NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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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:16199547 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:26257771 PMID:28166811 PMID:28492532 PMID:28831199 PMID:29907982 PMID:29926239 PMID:30675029 PMID:31096651 PMID:31316167 PMID:33435129 PMID:34008892 More...
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Myh8
myosin heavy chain 8
ISO
CTD Direct Evidence: marker/mechanism 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 CTD 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
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch
OMIM CTD ClinVar
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27607563 PMID:27653382 PMID:27714920 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
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Dse
dermatan sulfate epimerase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2
OMIM CTD 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
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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:25557462 PMID:25741868 PMID:26467025 PMID:26583494 PMID:27391121 PMID:28492532 PMID:29054425 More...
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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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 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1
ClinVar
PMID:20839240 PMID:21911697 PMID:22473935 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...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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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
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Acta1
actin, alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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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
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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
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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
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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
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Ascc1
activating signal cointegrator 1 complex subunit 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123
NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
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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
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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
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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
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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
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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
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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
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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
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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
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Dok7
docking protein 7
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 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:22884442 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25557462 PMID:25625551 PMID:25741868 PMID:25849006 PMID:26436962 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28024842 PMID:28492532 PMID:28508085 PMID:28716243 PMID:29054425 PMID:29118959 PMID:29395675 PMID:30266093 PMID:31618753 PMID:31880392 PMID:32331917 PMID:33146414 More...
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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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
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Ears2
glutamyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
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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
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25558065
NCBI chr18:51,499,670...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:28492532 PMID:31680123
NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
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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
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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
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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
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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
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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
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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
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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
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Musk
muscle associated receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
OMIM CTD ClinVar
PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20371544 PMID:23326516 PMID:24122059 PMID:24183479 PMID:25262156 PMID:25537362 PMID:25612909 PMID:25640679 PMID:25695962 PMID:25741868 PMID:25900532 PMID:26467025 PMID:28492532 PMID:28518170 PMID:29663639 PMID:30429133 PMID:30719842 PMID:31750350 PMID:31974414 PMID:32253145 PMID:32732226 More...
NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
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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
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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
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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 chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
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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
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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
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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
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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
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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
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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
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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:20301347 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:30266093 PMID:30266223 PMID:31127727 PMID:31680123 PMID:31965297 PMID:32070632 PMID:32528171 PMID:33255631 PMID:33502061 PMID:34106991 More...
NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
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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
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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:22473935 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...84,423,824
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...77,047,528
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
Svep1
sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:28492532
NCBI chr 5:72,811,200...72,988,185
Ensembl chr 5:72,811,410...72,988,525
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
Txn1
thioredoxin 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:28492532
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
G
Txndc8
thioredoxin domain containing 8
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:28492532
NCBI chr 5:72,749,708...72,785,858
Ensembl chr 5:72,749,725...72,785,931
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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 3:29,214,581...29,344,890
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:15036330 PMID:15145336 PMID:15282317 PMID:18179903 PMID:18252226 PMID:19620612 PMID:21520333 PMID:22326364 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34302381 More...
NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
G
Dock7
dedicator of cytokinesis 7
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3
ClinVar
PMID:25741868
NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
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:29054425 PMID:31880392 More...
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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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
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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:23265383 PMID:25256237 PMID:25740846 PMID:25741868 PMID:26945064 PMID:26996280 PMID:28492532 PMID:28584669 PMID:29805041 PMID:30379605 PMID:30826400 PMID:31030430 PMID:32732226 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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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
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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 ISS
OMIM:162500 CTD Direct Evidence: marker/mechanism 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 MouseDO CTD ClinVar
PMID:7649472 PMID:7825607 PMID:8012388 PMID:8252046 PMID:8422677 PMID:8541860 PMID:8894410 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:20301384 PMID:20842290 PMID:21149811 PMID:21194947 PMID:21228398 PMID:21252112 PMID:21670407 PMID:21692910 PMID:21962505 PMID:23965407 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 chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
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
Gle1
GLE1 RNA export mediator
ISO
ClinVar Annotator: match by term: Lethal autosomal recessive syndrome of multiple congenital contractures | 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:7770128 PMID:16892327 PMID:18204449 PMID:24243016 PMID:24961629 PMID:25741868 PMID:28492532 PMID:28884921 PMID:29899397 PMID:32954510 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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10
OMIM CTD 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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11
OMIM CTD ClinVar
PMID:25741868 PMID:27616481 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 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3
OMIM CTD 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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4
OMIM CTD 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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5
OMIM CTD 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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6
OMIM CTD 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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7
OMIM CTD ClinVar
PMID:24319099 PMID:25741868 PMID:27668699 PMID:27818385 PMID:28254648 PMID:28374019 PMID:28492532 PMID:29882456 PMID:31395954 PMID:31397905 More...
NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
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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
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Adcy6
adenylate cyclase 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8
OMIM CTD 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
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Spmip11
sperm microtubule inner protein 11
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
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Adgrg6
adhesion G protein-coupled receptor G6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9
OMIM CTD ClinVar
PMID:25741868 PMID:26004201 PMID:26752647 PMID:28492532
NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
OMIM CTD ClinVar
PMID:6287911 PMID:7619526 PMID:7863154 PMID:8872460 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:24121633 PMID:25348405 PMID:25450229 PMID:25741868 PMID:25741885 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:29395675 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
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Chrnd
cholinergic receptor nicotinic delta subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
OMIM CTD ClinVar
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 PMID:16916845 PMID:17576681 PMID:18252226 PMID:18414213 PMID:19526372 PMID:21532570 PMID:23108489 PMID:24033266 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:29382405 PMID:29390429 PMID:30467950 PMID:31560172 PMID:32070632 PMID:32360402 PMID:32528171 More...
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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Chrng
cholinergic receptor nicotinic gamma subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
OMIM CTD ClinVar
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:24319099 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:30868735 PMID:31230720 PMID:32536119 PMID:32901917 PMID:33060286 PMID:34008892 PMID:34440395 More...
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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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
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Adgrg1
adhesion G protein-coupled receptor G1
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
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Asns
asparagine synthetase (glutamine-hydrolyzing)
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
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Cdkl5
cyclin-dependent kinase-like 5
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:25657822 PMID:25741868 PMID:27770071
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dcx
doublecortin
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 PMID:28492532 PMID:35213059 More...
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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Depdc5
DEP domain containing 5, GATOR1 subcomplex subunit
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:19806373 PMID:21441262 PMID:22190898 PMID:23757202 PMID:24836831 PMID:25741868 PMID:26344814 PMID:28492532 PMID:28661489 PMID:28851325 PMID:30533527 More...
NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:7574460 PMID:16199547 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25741868 PMID:28102150 PMID:28492532 PMID:29124671 PMID:29358611 PMID:30544257 More...
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
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Kcnc1
potassium voltage-gated channel subfamily C member 1
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:28492532
NCBI chr 1:96,902,953...96,944,744
Ensembl chr 1:96,902,953...96,944,744
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Kif2a
kinesin family member 2A
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr 2:38,367,998...38,431,237
Ensembl chr 2:38,367,998...38,431,508
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Pafah1b1
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:28492532
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:26704558 PMID:28492532
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:19366826 PMID:22228622 PMID:22729224 PMID:22949682 PMID:25157968 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28151489 PMID:28492532 PMID:28502725 PMID:28941273 PMID:30231930 PMID:32595695 PMID:33077954 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pnkp
polynucleotide kinase 3'-phosphatase
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:11112660 PMID:15749016 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29261713 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:33654647 More...
NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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Rnf113a1
ring finger protein 113A1
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762
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Scn2a
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Smpd4
sphingomyelin phosphodiesterase 4
ISO
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
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Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:25741868
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Tubb2a
tubulin, beta 2A class IIa
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
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Tubb3
tubulin, beta 3 class III
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:18414213 PMID:25741868 PMID:26130693 PMID:28492532 PMID:28677066 PMID:29261186 PMID:30667171 PMID:32570172 PMID:32901917 More...
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Wdr62
WD repeat domain 62
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532 PMID:33604570
NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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Ergic1
endoplasmic reticulum-golgi intermediate compartment 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type
OMIM CTD ClinVar
PMID:5491443 PMID:28317099
NCBI chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957
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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
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Pah
phenylalanine hydroxylase
ISO
ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
ClinVar
PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 PMID:9399896 PMID:9634518 PMID:9781015 PMID:10394930 PMID:11385716 PMID:11524738 PMID:11696894 PMID:12655546 PMID:12655553 PMID:16198137 PMID:16765994 PMID:17924342 PMID:17935162 PMID:18493213 PMID:21953985 PMID:22763404 PMID:22841515 PMID:23074961 PMID:23357515 PMID:23430918 PMID:23500595 PMID:24350308 PMID:24368688 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 More...
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
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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 PMID:34415322 More...
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
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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
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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:25590979 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 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250
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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
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Kidins220
kinase D-interacting substrate 220
ISO
ClinVar Annotator: match by term: VENTRICULOMEGALY AND ARTHROGRYPOSIS | 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
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Uba1
ubiquitin-like modifier activating enzyme 1
ISO
ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 PMID:25075304 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29034082 PMID:32165824 PMID:32181232 PMID:33108101 PMID:33369814 PMID:33690815 PMID:34048852 PMID:34647982 PMID:34649277 PMID:35793467 PMID:36038944 PMID:36662445 More...
NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
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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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
21108
physical disorder
4883
arthrogryposis multiplex congenita
232
ARC syndrome +
3
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
1
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
0
Arthrogryposis Multiplex Congenita Whistling Face
0
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
0
Arthrogryposis and Ectodermal Dysplasia
1
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
1
Arthrogryposis, Impaired Intellectual Development, and Seizures
2
Arthrogryposis, X-Linked, Type V
0
Boylan Dew Greco Syndrome
0
Bruck syndrome +
3
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement
0
Camptodactyly-Ichthyosis Syndrome
0
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
0
Congenital Arthrogryposis with Anterior Horn Cell Disease
1
Congenital Neuropathy with Arthrogryposis Multiplex
0
Cyprus Facial Neuromusculoskeletal Syndrome
0
Ehlers-Danlos syndrome musculocontractural type 2
1
German Syndrome
0
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
1
Jequier Kozlowski Skeletal Dysplasia
0
Johnston Aarons Schelley Syndrome
0
Ladda Zonana Ramer Syndrome
0
Massa Casaer Ceulemans Syndrome
0
Minicore Myopathy, Antenatal Onset, with Arthrogryposis
0
Multiple Pterygium Syndrome, Lethal Type +
4
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
27
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
2
Pelvic Dysplasia Arthrogryposis of Lower Limbs
0
Podder-Tolmie Syndrome
0
Ray Peterson Scott Syndrome
0
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
0
Spranger Schinzel Myers Syndrome
0
Ventriculomegaly and Arthrogryposis
1
X-linked Microhydranencephaly
0
arthrogryposis multiplex congenita-1
1
arthrogryposis multiplex congenita-3
2
arthrogryposis multiplex congenita-4
1
arthrogryposis multiplex congenita-5
1
arthrogryposis multiplex congenita-6
2
cerebrooculofacioskeletal syndrome 2
2
cerebrooculofacioskeletal syndrome 4
2
distal arthrogryposis +
106
fetal akinesia deformation sequence syndrome +
62
hereditary neuropathy with liability to pressure palsies
3
lethal congenital contracture syndrome +
13
neurogenic-type arthrogryposis multiplex congenita-2
2
Path 2
disease
21108
disease of anatomical entity
18147
musculoskeletal system disease
8203
connective tissue disease
5696
bone disease
4210
bone inflammation disease
1475
arthropathy
1454
arthrogryposis multiplex congenita
232
ARC syndrome +
3
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
1
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
0
Arthrogryposis Multiplex Congenita Whistling Face
0
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
0
Arthrogryposis and Ectodermal Dysplasia
1
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
1
Arthrogryposis, Impaired Intellectual Development, and Seizures
2
Arthrogryposis, X-Linked, Type V
0
Boylan Dew Greco Syndrome
0
Bruck syndrome +
3
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement
0
Camptodactyly-Ichthyosis Syndrome
0
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
0
Congenital Arthrogryposis with Anterior Horn Cell Disease
1
Congenital Neuropathy with Arthrogryposis Multiplex
0
Cyprus Facial Neuromusculoskeletal Syndrome
0
Ehlers-Danlos syndrome musculocontractural type 2
1
German Syndrome
0
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
1
Jequier Kozlowski Skeletal Dysplasia
0
Johnston Aarons Schelley Syndrome
0
Ladda Zonana Ramer Syndrome
0
Massa Casaer Ceulemans Syndrome
0
Minicore Myopathy, Antenatal Onset, with Arthrogryposis
0
Multiple Pterygium Syndrome, Lethal Type +
4
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
27
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
2
Pelvic Dysplasia Arthrogryposis of Lower Limbs
0
Podder-Tolmie Syndrome
0
Ray Peterson Scott Syndrome
0
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
0
Spranger Schinzel Myers Syndrome
0
Ventriculomegaly and Arthrogryposis
1
X-linked Microhydranencephaly
0
arthrogryposis multiplex congenita-1
1
arthrogryposis multiplex congenita-3
2
arthrogryposis multiplex congenita-4
1
arthrogryposis multiplex congenita-5
1
arthrogryposis multiplex congenita-6
2
cerebrooculofacioskeletal syndrome 2
2
cerebrooculofacioskeletal syndrome 4
2
distal arthrogryposis +
106
fetal akinesia deformation sequence syndrome +
62
hereditary neuropathy with liability to pressure palsies
3
lethal congenital contracture syndrome +
13
neurogenic-type arthrogryposis multiplex congenita-2
2