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G |
Bmp4 |
bone morphogenetic protein 4 |
treatment |
ISO |
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RGD |
PMID:16447218 |
RGD:8699518 |
NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
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G |
Col11a2 |
collagen type XI alpha 2 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11668593 |
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NCBI chrNW_004936476:25,663,563...25,692,315
Ensembl chrNW_004936476:25,663,755...25,691,344
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G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27028940 |
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NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853
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G |
Edn1 |
endothelin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20707411 |
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NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772
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G |
Fgf14 |
fibroblast growth factor 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11241832 |
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NCBI chrNW_004936472:8,601,968...9,233,704
Ensembl chrNW_004936472:8,602,365...9,227,600
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G |
Gata2 |
GATA binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20707411 |
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NCBI chrNW_004936798:406,258...414,785
Ensembl chrNW_004936798:406,258...414,931
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G |
Nppc |
natriuretic peptide C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17676597 |
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NCBI chrNW_004936525:5,092,675...5,099,344
Ensembl chrNW_004936525:5,092,635...5,099,331
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G |
Lmbr1 |
limb development membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Acheiropodia |
OMIM ClinVar |
PMID:11090342 PMID:33863876 |
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NCBI chrNW_004936797:745,851...873,388
Ensembl chrNW_004936797:745,845...868,632
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G |
Slc26a2 |
solute carrier family 26 member 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis |
ClinVar |
|
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NCBI chrNW_004936504:4,990,996...5,005,658
Ensembl chrNW_004936504:4,991,080...5,005,877
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G |
Trip11 |
thyroid hormone receptor interactor 11 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis |
ClinVar |
|
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NCBI chrNW_004936733:233,723...300,150
Ensembl chrNW_004936733:234,531...299,639
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G |
Asb2 |
ankyrin repeat and SOCS box containing 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:1,813,569...1,849,805
Ensembl chrNW_004936733:1,813,548...1,849,806
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G |
Atxn3 |
ataxin 3 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:306,400...347,161
Ensembl chrNW_004936733:310,836...347,112
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G |
Btbd7 |
BTB domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:1,157,143...1,217,111
Ensembl chrNW_004936733:1,153,955...1,266,934
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G |
Calm1 |
calmodulin 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936488:17,580,425...17,588,480
Ensembl chrNW_004936488:17,580,454...17,588,507
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G |
Catsperb |
cation channel sperm associated auxiliary subunit beta |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936488:18,501,602...18,595,781
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G |
Ccdc88c |
coiled-coil domain containing 88C |
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ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936488:18,288,504...18,402,125
Ensembl chrNW_004936488:18,289,651...18,402,115
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G |
Chga |
chromogranin A |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:915,700...927,220
Ensembl chrNW_004936733:915,830...927,409
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G |
Cpsf2 |
cleavage and polyadenylation specific factor 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:367,082...397,242
Ensembl chrNW_004936733:367,109...397,242
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G |
Ddx24 |
DEAD-box helicase 24 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:1,913,439...1,932,027
Ensembl chrNW_004936733:1,913,437...1,932,869
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G |
Dglucy |
D-glutamate cyclase |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936488:18,201,543...18,253,261
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G |
Fam181a |
family with sequence similarity 181 member A |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:1,808,204...1,810,451
Ensembl chrNW_004936733:1,808,476...1,810,141
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G |
Fbln5 |
fibulin 5 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:136,374...200,106
Ensembl chrNW_004936733:137,207...209,473
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G |
Golga5 |
golgin A5 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:831,247...867,207
Ensembl chrNW_004936733:831,076...867,207
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G |
Gon7 |
GON7 subunit of KEOPS complex |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:1,109,456...1,127,176
Ensembl chrNW_004936733:1,124,039...1,127,566
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G |
Gpr68 |
G protein-coupled receptor 68 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936488:18,257,765...18,278,530
Ensembl chrNW_004936488:18,259,866...18,260,993
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G |
Ifi27l2 |
interferon alpha inducible protein 27 like 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:1,964,545...1,966,157
Ensembl chrNW_004936733:1,961,616...1,966,265
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G |
Itpk1 |
inositol-tetrakisphosphate 1-kinase |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:930,986...1,064,223
Ensembl chrNW_004936733:930,972...1,064,229
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G |
Kcnk13 |
potassium two pore domain channel subfamily K member 13 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936488:17,410,165...17,411,040
Ensembl chrNW_004936488:17,322,431...17,411,923
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G |
Lgmn |
legumain |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:772,764...792,792
Ensembl chrNW_004936733:772,708...792,995
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G |
LOC101973017 |
corticosteroid-binding globulin |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:2,141,484...2,148,129
Ensembl chrNW_004936733:2,141,392...2,148,151
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G |
Lyset |
lysosomal enzyme trafficking factor |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:1,113,681...1,115,446
Ensembl chrNW_004936733:1,113,755...1,118,094
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G |
Moap1 |
modulator of apoptosis 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:1,111,256...1,113,651
Ensembl chrNW_004936733:1,111,958...1,113,010
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G |
Ndufb1 |
NADH:ubiquinone oxidoreductase subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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G |
Nrde2 |
NRDE-2, necessary for RNA interference, domain containing |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936488:17,473,787...17,519,278
Ensembl chrNW_004936488:17,473,607...17,519,536
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G |
Otub2 |
OTU deubiquitinase, ubiquitin aldehyde binding 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:1,891,198...1,913,389
Ensembl chrNW_004936733:1,891,132...1,909,392
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G |
Ppp4r3a |
protein phosphatase 4 regulatory subunit 3A |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936488:18,423,353...18,467,363
Ensembl chrNW_004936488:18,422,741...18,467,430
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G |
Ppp4r4 |
protein phosphatase 4 regulatory subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936733:2,007,843...2,119,766
Ensembl chrNW_004936733:2,007,839...2,119,503
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G |
Prima1 |
proline rich membrane anchor 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936733:1,667,191...1,713,517
Ensembl chrNW_004936733:1,670,004...1,712,558
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G |
Psmc1 |
proteasome 26S subunit, ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936488:17,455,612...17,468,933
Ensembl chrNW_004936488:17,455,461...17,469,527
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G |
Rin3 |
Ras and Rab interactor 3 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:683,309...765,897
Ensembl chrNW_004936733:683,272...765,906
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G |
Rps6ka5 |
ribosomal protein S6 kinase A5 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936488:17,937,421...18,132,845
Ensembl chrNW_004936488:17,940,327...18,132,970
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G |
Serpina10 |
serpin family A member 10 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936733:2,121,875...2,129,988
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G |
Slc24a4 |
solute carrier family 24 member 4 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936733:515,546...639,699
Ensembl chrNW_004936733:515,510...639,705
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G |
Tc2n |
tandem C2 domains, nuclear |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936733:70,608...106,247
Ensembl chrNW_004936733:72,304...99,767
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G |
Tdp1 |
tyrosyl-DNA phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936488:17,237,002...17,311,325
Ensembl chrNW_004936488:17,236,703...17,311,310
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G |
Trip11 |
thyroid hormone receptor interactor 11 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis Houston-Harris type | ClinVar Annotator: match by term: Achondrogenesis type 1A | ClinVar Annotator: match by term: Achondrogenesis, type IA |
OMIM ClinVar |
PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20089971 PMID:20307669 PMID:22406018 PMID:23956106 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600779 PMID:29620724 PMID:29872333 PMID:30609409 PMID:30728324 PMID:31903676 PMID:33578785 PMID:34057271 More...
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NCBI chrNW_004936733:233,723...300,150
Ensembl chrNW_004936733:234,531...299,639
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G |
Ttc7b |
tetratricopeptide repeat domain 7B |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936488:17,673,852...17,882,229
Ensembl chrNW_004936488:17,674,321...17,882,715
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G |
Ubr7 |
ubiquitin protein ligase E3 component n-recognin 7 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936733:1,127,150...1,147,192
Ensembl chrNW_004936733:1,127,145...1,147,210
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G |
Unc79 |
unc-79 homolog, NALCN channel complex subunit |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936733:1,387,951...1,657,176
Ensembl chrNW_004936733:1,388,163...1,656,184
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G |
Slc26a2 |
solute carrier family 26 member 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB |
OMIM ClinVar |
PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:9536098 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:11727031 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:15720248 PMID:16642506 PMID:17393463 PMID:17576681 PMID:18708426 PMID:18925670 PMID:19344236 PMID:19763152 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20307669 PMID:20525296 PMID:20592910 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:22406018 PMID:23369989 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:26077908 PMID:27065010 PMID:28492532 PMID:29024831 PMID:30423444 PMID:30462520 PMID:31880411 PMID:32295296 PMID:32619261 PMID:33728303 PMID:34064542 PMID:34094714 PMID:34557487 PMID:34627339 PMID:34958143 More...
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NCBI chrNW_004936504:4,990,996...5,005,658
Ensembl chrNW_004936504:4,991,080...5,005,877
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G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta |
OMIM ClinVar |
PMID:7695699 PMID:7752132 PMID:7757081 PMID:7829510 PMID:7977371 PMID:8024616 PMID:8218237 PMID:8244341 PMID:8325895 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9101290 PMID:9536098 PMID:10612821 PMID:10797431 PMID:10982970 PMID:11007540 PMID:12429249 PMID:12544472 PMID:12939326 PMID:15054848 PMID:15895462 PMID:16199547 PMID:16752401 PMID:16755660 PMID:17078022 PMID:17347327 PMID:17576681 PMID:17726487 PMID:17994563 PMID:18272325 PMID:18276201 PMID:18553548 PMID:19344236 PMID:19764028 PMID:20179744 PMID:20301479 PMID:20513134 PMID:21472893 PMID:21924244 PMID:22496037 PMID:22522174 PMID:23592912 PMID:24736929 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25735649 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26443184 PMID:26467025 PMID:26626311 PMID:26747767 PMID:27234559 PMID:27390512 PMID:28492532 PMID:28559085 PMID:28738883 PMID:29453956 PMID:29620724 PMID:30138938 PMID:30181686 PMID:30792901 PMID:31755234 PMID:32071555 PMID:32756486 PMID:33249554 PMID:34394176 PMID:34529350 PMID:34573377 More...
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NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853
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G |
Acan |
aggrecan |
|
ISO |
OMIM:100800 |
MouseDO |
|
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NCBI chrNW_004936483:14,811,152...14,846,305
Ensembl chrNW_004936483:14,811,152...14,846,305
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Achondroplasia |
ClinVar |
PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:25741868 PMID:28492532 PMID:28855619 More...
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NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
severity |
ISO |
ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome DNA:mutation:cds:p.K650M(human) |
OMIM ClinVar RGD |
PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7758520 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8599370 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9790257 PMID:9842995 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10377013 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10587515 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10893668 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12009017 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17256796 PMID:17384684 PMID:17509076 PMID:17526800 PMID:17552943 PMID:17875876 PMID:17895900 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22529939 PMID:22622662 PMID:22628360 PMID:23045425 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23573386 PMID:23972473 PMID:24715719 PMID:24728327 PMID:24863959 PMID:25157968 PMID:25271085 PMID:25505835 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25777271 PMID:25809207 PMID:26126848 PMID:26220993 PMID:26380986 PMID:26467025 PMID:26619011 PMID:26740388 PMID:26818779 PMID:26887047 PMID:26992226 PMID:28230213 PMID:28454995 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30160829 PMID:30355600 PMID:30692697 PMID:31130284 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36373817 PMID:36474027 PMID:36714562 More...
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RGD:11568054 |
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
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Nppc |
natriuretic peptide C |
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ISO |
OMIM:100800 |
MouseDO |
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NCBI chrNW_004936525:5,092,675...5,099,344
Ensembl chrNW_004936525:5,092,635...5,099,331
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Npr2 |
natriuretic peptide receptor 2 |
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ISO |
DNA:missense mutation:cds:p.L885R (mouse) OMIM:100800 |
RGD MouseDO |
PMID:15722353 |
RGD:1580771 |
NCBI chrNW_004936524:3,779,398...3,798,074
Ensembl chrNW_004936524:3,779,392...3,798,501
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Pthlh |
parathyroid hormone like hormone |
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ISO |
OMIM:100800 |
MouseDO |
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NCBI chrNW_004936760:197,525...209,212
Ensembl chrNW_004936760:197,525...209,518
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Spred2 |
sprouty related EVH1 domain containing 2 |
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ISO |
OMIM:100800 |
MouseDO |
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NCBI chrNW_004936491:10,053,546...10,170,950
Ensembl chrNW_004936491:10,053,545...10,170,976
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Achondroplastic dwarfism |
ClinVar |
PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9790257 PMID:9842995 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12009017 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17256796 PMID:17384684 PMID:17509076 PMID:17526800 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:22628360 PMID:23045425 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23573386 PMID:23972473 PMID:24715719 PMID:24728327 PMID:24863959 PMID:25157968 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26220993 PMID:26380986 PMID:26619011 PMID:26740388 PMID:26818779 PMID:26992226 PMID:28230213 PMID:28454995 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30355600 PMID:30692697 PMID:31130284 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36474027 More...
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NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
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Ihh |
Indian hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Acrocapitofemoral dysplasia |
OMIM ClinVar |
PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144 |
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NCBI chrNW_004936569:1,474,693...1,480,562
Ensembl chrNW_004936569:1,474,665...1,480,568
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Fam20a |
FAM20A golgi associated secretory pathway pseudokinase |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936541:7,867,856...7,916,145
Ensembl chrNW_004936541:7,867,303...7,916,154
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Pde4d |
phosphodiesterase 4D |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936480:8,123,437...9,235,586
Ensembl chrNW_004936480:8,204,701...9,234,865
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Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis | ClinVar Annotator: match by term: Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome |
ClinVar |
PMID:11115848 PMID:15371594 PMID:18241045 PMID:19293268 PMID:21651393 PMID:22464250 PMID:22785148 PMID:23043190 PMID:23942052 PMID:25637381 PMID:25741868 PMID:26405036 PMID:27589370 PMID:28051113 PMID:28492532 PMID:28518168 PMID:28804209 PMID:29264456 PMID:32191290 PMID:32287321 PMID:32461654 PMID:34313605 More...
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NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709
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Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance |
OMIM ClinVar |
PMID:11115848 PMID:11200992 PMID:15371594 PMID:18241045 PMID:19293268 PMID:20358582 PMID:21651393 PMID:22464250 PMID:22464252 PMID:22785148 PMID:23043190 PMID:23425300 PMID:23942052 PMID:25637381 PMID:25741868 PMID:26405036 PMID:27589370 PMID:28051113 PMID:28492532 PMID:28518168 PMID:28804209 PMID:29264456 PMID:30426508 PMID:32191290 PMID:32287321 PMID:32461654 PMID:34313605 More...
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NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709
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Depdc1b |
DEP domain containing 1B |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance |
ClinVar |
PMID:21681106 PMID:24203977 |
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NCBI chrNW_004936480:7,750,244...7,841,556
Ensembl chrNW_004936480:7,750,241...7,841,536
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Pde4d |
phosphodiesterase 4D |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance | ClinVar Annotator: match by term: PDE4D-related condition |
OMIM ClinVar |
PMID:11200992 PMID:12121997 PMID:15025561 PMID:21681106 PMID:22464250 PMID:22464252 PMID:23033274 PMID:24033266 PMID:24203977 PMID:25044890 PMID:25064455 PMID:25741868 PMID:28492532 PMID:30006632 PMID:33858404 More...
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NCBI chrNW_004936480:8,123,437...9,235,586
Ensembl chrNW_004936480:8,204,701...9,234,865
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Gdf5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dwarfism | ClinVar Annotator: match by term: Acromesomelic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721
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Npr2 |
natriuretic peptide receptor 2 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,779,398...3,798,074
Ensembl chrNW_004936524:3,779,392...3,798,501
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Gdf5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Grebe syndrome |
OMIM ClinVar |
PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721
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Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type |
ClinVar |
PMID:29322508 |
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NCBI chrNW_004936687:2,346,601...2,595,283
Ensembl chrNW_004936687:2,503,777...2,597,522
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Gdf5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type |
OMIM ClinVar |
PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721
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Aptx |
aprataxin |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:1,569,610...1,582,103
Ensembl chrNW_004936524:1,570,627...1,576,329
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Aqp3 |
aquaporin 3 (Gill blood group) |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:1,963,427...1,969,977
Ensembl chrNW_004936524:1,963,247...1,969,998
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Aqp7 |
aquaporin 7 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:1,898,635...1,915,078
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Arhgef39 |
Rho guanine nucleotide exchange factor 39 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,660,364...3,663,664
Ensembl chrNW_004936524:3,660,454...3,663,696
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Arid3c |
AT-rich interaction domain 3C |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,705,112...2,711,557
Ensembl chrNW_004936524:2,705,121...2,711,557
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Atosb |
atos homolog B |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,133,288...3,144,726
Ensembl chrNW_004936524:3,133,288...3,140,193
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B4galt1 |
beta-1,4-galactosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:1,659,791...1,713,971
Ensembl chrNW_004936524:1,659,608...1,714,102
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Bag1 |
BAG cochaperone 1 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:1,793,001...1,804,145
Ensembl chrNW_004936524:1,791,119...1,804,151
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Ca9 |
carbonic anhydrase 9 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,672,393...3,678,630
Ensembl chrNW_004936524:3,672,541...3,678,433
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Ccdc107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,657,094...3,659,851
Ensembl chrNW_004936524:3,657,170...3,659,821
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Ccin |
calicin |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:4,143,238...4,145,183
Ensembl chrNW_004936524:4,143,347...4,145,113
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Ccl19 |
C-C motif chemokine ligand 19 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,765,271...2,767,259
Ensembl chrNW_004936524:2,765,267...2,767,385
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Ccl21 |
C-C motif chemokine ligand 21 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,787,963...2,789,116
Ensembl chrNW_004936524:2,788,341...2,789,016
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Ccl27 |
C-C motif chemokine ligand 27 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,743,106...2,743,759
Ensembl chrNW_004936524:2,743,068...2,743,746
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Cd72 |
CD72 molecule |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,620,464...3,629,065
Ensembl chrNW_004936524:3,620,912...3,629,065
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Chmp5 |
charged multivesicular body protein 5 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:1,804,643...1,820,491
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Cimip2b |
ciliary microtubule inner protein 2B |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,594,530...3,597,055
Ensembl chrNW_004936524:3,594,552...3,596,371
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Clta |
clathrin light chain A |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:4,170,425...4,191,951
Ensembl chrNW_004936524:4,169,732...4,191,951
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Cntfr |
ciliary neurotrophic factor receptor |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,636,166...2,674,488
Ensembl chrNW_004936524:2,636,166...2,674,192
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Creb3 |
cAMP responsive element binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,727,104...3,730,962
Ensembl chrNW_004936524:3,727,098...3,730,975
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Dcaf12 |
DDB1 and CUL4 associated factor 12 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,239,972...2,272,885
Ensembl chrNW_004936524:2,238,602...2,273,349
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Dctn3 |
dynactin subunit 3 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,696,096...2,704,162
Ensembl chrNW_004936524:2,696,053...2,704,213
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Dnai1 |
dynein axonemal intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,551,431...2,614,245
Ensembl chrNW_004936524:2,572,956...2,614,026
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Dnaja1 |
DnaJ heat shock protein family (Hsp40) member A1 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:1,599,883...1,611,302
Ensembl chrNW_004936524:1,599,913...1,610,682
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Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,038,489...3,047,546
Ensembl chrNW_004936524:3,039,183...3,048,803
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Enho |
energy homeostasis associated |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,614,299...2,616,073
Ensembl chrNW_004936524:2,614,299...2,616,073
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G |
Exosc3 |
exosome component 3 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:5,580,855...5,586,170
Ensembl chrNW_004936524:5,581,090...5,586,128
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Fam219a |
family with sequence similarity 219 member A |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,494,954...2,550,992
Ensembl chrNW_004936524:2,492,634...2,551,147
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G |
Fancg |
FA complementation group G |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,103,912...3,110,246
Ensembl chrNW_004936524:3,104,176...3,109,779
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G |
Fbxo10 |
F-box protein 10 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:5,285,844...5,355,212
Ensembl chrNW_004936524:5,283,828...5,355,392
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G |
Frmpd1 |
FERM and PDZ domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:5,469,495...5,557,109
Ensembl chrNW_004936524:5,469,422...5,557,117
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G |
Galt |
galactose-1-phosphate uridylyltransferase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:2,726,795...2,730,049
Ensembl chrNW_004936524:2,726,749...2,730,564
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G |
Gba2 |
glucosylceramidase beta 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531
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G |
Glipr2 |
GLI pathogenesis related 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:4,118,964...4,139,901
Ensembl chrNW_004936524:4,118,697...4,139,942
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G |
Gne |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:4,184,831...4,234,257
Ensembl chrNW_004936524:4,196,830...4,252,163
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|
G |
Grhpr |
glyoxylate and hydroxypyruvate reductase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970
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|
G |
Hrct1 |
histidine rich carboxyl terminus 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,912,344...3,913,231
Ensembl chrNW_004936524:3,912,416...3,912,796
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|
G |
Il11ra |
interleukin 11 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:2,732,477...2,743,044
Ensembl chrNW_004936524:2,735,507...2,742,660
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|
G |
Kif24 |
kinesin family member 24 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:2,375,133...2,417,096
Ensembl chrNW_004936524:2,375,981...2,417,096
|
|
G |
LOC101958294 |
histidine triad nucleotide-binding protein 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,807,426...3,816,391
Ensembl chrNW_004936524:3,807,494...3,813,535 Ensembl chrNW_004936524:3,807,494...3,813,535
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|
G |
Melk |
maternal embryonic leucine zipper kinase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:4,479,639...4,544,561
Ensembl chrNW_004936524:4,469,256...4,544,290
|
|
G |
Msmp |
microseminoprotein, prostate associated |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,746,426...3,751,124
Ensembl chrNW_004936524:3,746,502...3,747,525
|
|
G |
Myorg |
myogenesis regulating glycosidase (putative) |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:2,472,611...2,494,478
Ensembl chrNW_004936524:2,472,624...2,492,768 Ensembl chrNW_004936524:2,472,624...2,492,768
|
|
G |
Ndufb6 |
NADH:ubiquinone oxidoreductase subunit B6 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:1,231,744...1,243,783
Ensembl chrNW_004936524:1,231,852...1,243,659
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|
G |
Nfx1 |
nuclear transcription factor, X-box binding 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:1,824,629...1,886,726
Ensembl chrNW_004936524:1,823,813...1,886,721
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|
G |
Nol6 |
nucleolar protein 6 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:1,981,832...1,997,153
Ensembl chrNW_004936524:1,982,898...1,997,054
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|
G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dwarfism Maroteux type | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type | ClinVar Annotator: match by term: ST. HELENA DYSPLASIA |
OMIM ClinVar |
PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:17576681 PMID:18945719 PMID:22691581 PMID:23065701 PMID:24001744 PMID:24259409 PMID:24471569 PMID:25387261 PMID:25703509 PMID:25741868 PMID:25959430 PMID:26075495 PMID:26284228 PMID:26349192 PMID:26567084 PMID:26633542 PMID:26980729 PMID:27994189 PMID:28492532 PMID:30359775 PMID:30408610 PMID:30602027 PMID:30622824 PMID:31960617 PMID:31990356 PMID:32506268 PMID:32694885 PMID:32720985 PMID:33205215 PMID:33288834 PMID:34006472 PMID:34008892 PMID:34162036 PMID:34217350 PMID:35368703 PMID:35455946 More...
|
|
NCBI chrNW_004936524:3,779,398...3,798,074
Ensembl chrNW_004936524:3,779,392...3,798,501
|
|
G |
Nudt2 |
nudix hydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:2,438,947...2,452,647
Ensembl chrNW_004936524:2,441,860...2,454,174
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|
G |
Pax5 |
paired box 5 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:4,700,815...4,887,035
Ensembl chrNW_004936524:4,700,841...4,887,106
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|
G |
Phf24 |
PHD finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,020,421...3,031,720
Ensembl chrNW_004936524:3,005,705...3,031,744
|
|
G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis class O |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,116,627...3,126,681
Ensembl chrNW_004936524:3,118,010...3,125,587
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|
G |
Polr1e |
RNA polymerase I subunit E |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:5,265,489...5,284,231
Ensembl chrNW_004936524:5,265,441...5,288,417
|
|
G |
Reck |
reversion inducing cysteine rich protein with kazal motifs |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:4,021,666...4,099,703
Ensembl chrNW_004936524:4,021,660...4,099,705
|
|
G |
Rgp1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,742,590...3,746,371
Ensembl chrNW_004936524:3,742,596...3,750,742
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|
G |
Rigi |
RNA sensor RIG-I |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:1,141,840...1,200,638
Ensembl chrNW_004936524:1,140,971...1,200,638
|
|
G |
Rnf38 |
ring finger protein 38 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:4,281,124...4,359,378
Ensembl chrNW_004936524:4,281,224...4,337,733
|
|
G |
Rpp25l |
ribonuclease P/MRP subunit p25 like |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:2,692,179...2,694,461
|
|
G |
Rusc2 |
RUN and SH3 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,535,122...3,594,452
Ensembl chrNW_004936524:3,535,175...3,596,077
|
|
G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:2,717,885...2,720,874
Ensembl chrNW_004936524:2,715,769...2,721,085
|
|
G |
Sit1 |
signaling threshold regulating transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,649,195...3,650,792
Ensembl chrNW_004936524:3,649,714...3,650,679
|
|
G |
Smu1 |
SMU1 DNA replication regulator and spliceosomal factor |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:1,615,299...1,639,133
Ensembl chrNW_004936524:1,615,129...1,639,193
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|
G |
Spag8 |
sperm associated antigen 8 |
|
ISO |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type |
ClinVar |
PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 PMID:22691581 PMID:25387261 PMID:25741868 PMID:26567084 PMID:26633542 PMID:28492532 PMID:30359775 PMID:30408610 PMID:30622824 PMID:31960617 PMID:32720985 PMID:33288834 More...
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|
NCBI chrNW_004936524:3,798,144...3,801,479
Ensembl chrNW_004936524:3,798,281...3,800,704
|
|
G |
Spata31f1 |
SPATA31 subfamily F member 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:2,804,957...2,810,940
|
|
G |
Spata31g1 |
SPATA31 subfamily G member 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,074,901...3,079,980
Ensembl chrNW_004936524:3,075,250...3,079,233
|
|
G |
Spink4 |
serine peptidase inhibitor Kazal type 4 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:1,784,805...1,789,464
Ensembl chrNW_004936524:1,785,415...1,790,954
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G |
Stoml2 |
stomatin like 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,129,149...3,132,405
Ensembl chrNW_004936524:3,129,148...3,133,056
|
|
G |
Tesk1 |
testis associated actin remodelling kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,615,933...3,620,384
Ensembl chrNW_004936524:3,615,927...3,621,474
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G |
Tln1 |
talin 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,693,679...3,727,055
Ensembl chrNW_004936524:3,693,679...3,727,098
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G |
Tmem215 |
transmembrane protein 215 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:1,395,860...1,402,013
Ensembl chrNW_004936524:1,400,526...1,401,233
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G |
Tmem8b |
transmembrane protein 8B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,816,524...3,840,959
Ensembl chrNW_004936524:3,816,490...3,843,349
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G |
Tomm5 |
translocase of outer mitochondrial membrane 5 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:5,371,768...5,375,443
Ensembl chrNW_004936524:5,371,775...5,375,443
|
|
G |
Topors |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:1,219,101...1,229,937
Ensembl chrNW_004936524:1,219,907...1,229,723
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,679,719...3,687,828
Ensembl chrNW_004936524:3,679,560...3,688,308
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G |
Trmt10b |
tRNA methyltransferase 10B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:5,561,622...5,579,263
Ensembl chrNW_004936524:5,561,647...5,579,230
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G |
Ubap1 |
ubiquitin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:2,322,653...2,373,685
Ensembl chrNW_004936524:2,322,634...2,374,349
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G |
Ubap2 |
ubiquitin associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:2,107,263...2,210,200
Ensembl chrNW_004936524:2,107,230...2,210,225
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G |
Ube2r2 |
ubiquitin conjugating enzyme E2 R2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:2,005,508...2,103,878
Ensembl chrNW_004936524:2,005,590...2,103,389
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G |
Unc13b |
unc-13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,320,859...3,369,865
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G |
Vcp |
valosin containing protein |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466
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G |
Zbtb5 |
zinc finger and BTB domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:5,220,785...5,253,812
Ensembl chrNW_004936524:5,222,968...5,253,812
|
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G |
Zcchc7 |
zinc finger CCHC-type containing 7 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:4,927,956...5,154,225
Ensembl chrNW_004936524:4,927,836...5,168,337
|
|
|
G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
|
ISO |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES |
OMIM ClinVar |
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:26105076 PMID:28492532 PMID:35034853 More...
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|
NCBI chrNW_004936687:2,346,601...2,595,283
Ensembl chrNW_004936687:2,503,777...2,597,522
|
|
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G |
Prkg2 |
protein kinase cGMP-dependent 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 4 |
OMIM ClinVar |
PMID:25741868 PMID:33106379 PMID:34782440 |
|
NCBI chrNW_004936749:900,208...991,891
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|
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G |
Adamtsl2 |
ADAMTS like 2 |
|
ISO |
ClinVar Annotator: match by term: Geleophysic dwarfism |
ClinVar |
PMID:24014090 PMID:25741868 PMID:26879370 PMID:33369194 PMID:36474027 |
|
NCBI chrNW_004936669:3,363,991...3,397,099
Ensembl chrNW_004936669:3,363,867...3,397,402
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia | ClinVar Annotator: match by term: Geleophysic dwarfism |
OMIM ClinVar |
PMID:627879 PMID:948948 PMID:960337 PMID:1852206 PMID:2005308 PMID:2254511 PMID:3212331 PMID:3495735 PMID:3536967 PMID:4750422 PMID:7738200 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8281141 PMID:8430317 PMID:8541880 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8791520 PMID:8941093 PMID:8988160 PMID:9150726 PMID:9338581 PMID:9338588 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10198291 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:10679954 PMID:10694921 PMID:11068200 PMID:11139245 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12651868 PMID:12938084 PMID:14598350 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15598221 PMID:15880509 PMID:15980072 PMID:15983637 PMID:16061422 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16273536 PMID:16333834 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19396033 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20200614 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20699357 PMID:20886638 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23133647 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:23684891 PMID:23719250 PMID:23794388 PMID:23897642 PMID:24033266 PMID:24039054 PMID:24055113 PMID:24161884 PMID:24199744 PMID:24311428 PMID:24339047 PMID:24564502 PMID:24635535 PMID:24665001 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25326635 PMID:25363768 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25736269 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26017485 PMID:26026792 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26332594 PMID:26333736 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26684006 PMID:26764160 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27245183 PMID:27274304 PMID:27353645 PMID:27382527 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27935852 PMID:27959697 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28254189 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28497567 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29168297 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29845260 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30086531 PMID:30341550 PMID:30471092 PMID:30513137 PMID:30542390 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30796334 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31506931 PMID:31605817 PMID:31727422 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32679894 PMID:32730690 PMID:32938213 PMID:32939518 PMID:33082559 PMID:33100332 PMID:33243733 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34008892 PMID:34135346 PMID:34281902 PMID:34422331 PMID:34456093 PMID:34498425 PMID:34653508 PMID:34818515 PMID:35234813 PMID:35531120 PMID:35877578 PMID:36973604 PMID:37042257 PMID:37460677 PMID:37684520 More...
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NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
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Smad2 |
SMAD family member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chrNW_004936497:14,723,199...14,812,160
Ensembl chrNW_004936497:14,723,199...14,801,697
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Tgfb1 |
transforming growth factor beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia |
ClinVar |
PMID:18382993 PMID:25348816 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936526:2,254,463...2,282,785
Ensembl chrNW_004936526:2,254,449...2,282,785
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Arhgef39 |
Rho guanine nucleotide exchange factor 39 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,660,364...3,663,664
Ensembl chrNW_004936524:3,660,454...3,663,696
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Arid3c |
AT-rich interaction domain 3C |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,705,112...2,711,557
Ensembl chrNW_004936524:2,705,121...2,711,557
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Atosb |
atos homolog B |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,133,288...3,144,726
Ensembl chrNW_004936524:3,133,288...3,140,193
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Ca9 |
carbonic anhydrase 9 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,672,393...3,678,630
Ensembl chrNW_004936524:3,672,541...3,678,433
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Ccdc107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:18804272 PMID:25741868 PMID:28094436 PMID:28492532 More...
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NCBI chrNW_004936524:3,657,094...3,659,851
Ensembl chrNW_004936524:3,657,170...3,659,821
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Ccin |
calicin |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:4,143,238...4,145,183
Ensembl chrNW_004936524:4,143,347...4,145,113
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Ccl19 |
C-C motif chemokine ligand 19 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,765,271...2,767,259
Ensembl chrNW_004936524:2,765,267...2,767,385
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Ccl21 |
C-C motif chemokine ligand 21 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,787,963...2,789,116
Ensembl chrNW_004936524:2,788,341...2,789,016
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Ccl27 |
C-C motif chemokine ligand 27 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,743,106...2,743,759
Ensembl chrNW_004936524:2,743,068...2,743,746
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Cd72 |
CD72 molecule |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,620,464...3,629,065
Ensembl chrNW_004936524:3,620,912...3,629,065
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Cimip2b |
ciliary microtubule inner protein 2B |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,594,530...3,597,055
Ensembl chrNW_004936524:3,594,552...3,596,371
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Clta |
clathrin light chain A |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:4,170,425...4,191,951
Ensembl chrNW_004936524:4,169,732...4,191,951
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Cntfr |
ciliary neurotrophic factor receptor |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,636,166...2,674,488
Ensembl chrNW_004936524:2,636,166...2,674,192
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Creb3 |
cAMP responsive element binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,727,104...3,730,962
Ensembl chrNW_004936524:3,727,098...3,730,975
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Dctn3 |
dynactin subunit 3 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,696,096...2,704,162
Ensembl chrNW_004936524:2,696,053...2,704,213
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Dnai1 |
dynein axonemal intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,551,431...2,614,245
Ensembl chrNW_004936524:2,572,956...2,614,026
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Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,038,489...3,047,546
Ensembl chrNW_004936524:3,039,183...3,048,803
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Enho |
energy homeostasis associated |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,614,299...2,616,073
Ensembl chrNW_004936524:2,614,299...2,616,073
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Fam219a |
family with sequence similarity 219 member A |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,494,954...2,550,992
Ensembl chrNW_004936524:2,492,634...2,551,147
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Fancg |
FA complementation group G |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,103,912...3,110,246
Ensembl chrNW_004936524:3,104,176...3,109,779
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Galt |
galactose-1-phosphate uridylyltransferase |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,726,795...2,730,049
Ensembl chrNW_004936524:2,726,749...2,730,564
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Gba2 |
glucosylceramidase beta 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531
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Glipr2 |
GLI pathogenesis related 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:4,118,964...4,139,901
Ensembl chrNW_004936524:4,118,697...4,139,942
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Gne |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:4,184,831...4,234,257
Ensembl chrNW_004936524:4,196,830...4,252,163
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Hrct1 |
histidine rich carboxyl terminus 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,912,344...3,913,231
Ensembl chrNW_004936524:3,912,416...3,912,796
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Il11ra |
interleukin 11 receptor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,732,477...2,743,044
Ensembl chrNW_004936524:2,735,507...2,742,660
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LOC101958294 |
histidine triad nucleotide-binding protein 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,807,426...3,816,391
Ensembl chrNW_004936524:3,807,494...3,813,535 Ensembl chrNW_004936524:3,807,494...3,813,535
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LOC101971023 |
uncharacterized LOC101971023 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,743,047...2,747,684
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Msmp |
microseminoprotein, prostate associated |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,746,426...3,751,124
Ensembl chrNW_004936524:3,746,502...3,747,525
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Myorg |
myogenesis regulating glycosidase (putative) |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,472,611...2,494,478
Ensembl chrNW_004936524:2,472,624...2,492,768 Ensembl chrNW_004936524:2,472,624...2,492,768
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Npr2 |
natriuretic peptide receptor 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,779,398...3,798,074
Ensembl chrNW_004936524:3,779,392...3,798,501
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Phf24 |
PHD finger protein 24 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,020,421...3,031,720
Ensembl chrNW_004936524:3,005,705...3,031,744
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Pigo |
phosphatidylinositol glycan anchor biosynthesis class O |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,116,627...3,126,681
Ensembl chrNW_004936524:3,118,010...3,125,587
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Reck |
reversion inducing cysteine rich protein with kazal motifs |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:4,021,666...4,099,703
Ensembl chrNW_004936524:4,021,660...4,099,705
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Rgp1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,742,590...3,746,371
Ensembl chrNW_004936524:3,742,596...3,750,742
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Rpp25l |
ribonuclease P/MRP subunit p25 like |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,692,179...2,694,461
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Rusc2 |
RUN and SH3 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,535,122...3,594,452
Ensembl chrNW_004936524:3,535,175...3,596,077
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Sigmar1 |
sigma non-opioid intracellular receptor 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,717,885...2,720,874
Ensembl chrNW_004936524:2,715,769...2,721,085
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Sit1 |
signaling threshold regulating transmembrane adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,649,195...3,650,792
Ensembl chrNW_004936524:3,649,714...3,650,679
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Spaar |
small regulatory polypeptide of amino acid response |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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Spag8 |
sperm associated antigen 8 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,798,144...3,801,479
Ensembl chrNW_004936524:3,798,281...3,800,704
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Spata31f1 |
SPATA31 subfamily F member 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,804,957...2,810,940
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Spata31f3 |
SPATA31 subfamily F member 3 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:2,930,870...2,937,132
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Spata31g1 |
SPATA31 subfamily G member 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,074,901...3,079,980
Ensembl chrNW_004936524:3,075,250...3,079,233
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Stoml2 |
stomatin like 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,129,149...3,132,405
Ensembl chrNW_004936524:3,129,148...3,133,056
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Tesk1 |
testis associated actin remodelling kinase 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,615,933...3,620,384
Ensembl chrNW_004936524:3,615,927...3,621,474
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Tln1 |
talin 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,693,679...3,727,055
Ensembl chrNW_004936524:3,693,679...3,727,098
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Tmem8b |
transmembrane protein 8B |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,816,524...3,840,959
Ensembl chrNW_004936524:3,816,490...3,843,349
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Tpm2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,679,719...3,687,828
Ensembl chrNW_004936524:3,679,560...3,688,308
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Unc13b |
unc-13 homolog B |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,320,859...3,369,865
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Vcp |
valosin containing protein |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466
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Ccdc107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type |
ClinVar |
PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:18804272 PMID:25741868 PMID:28094436 PMID:28492532 More...
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NCBI chrNW_004936524:3,657,094...3,659,851
Ensembl chrNW_004936524:3,657,170...3,659,821
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Pop1 |
POP1 homolog, ribonuclease P/MRP subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936470:44,676,798...44,710,397
Ensembl chrNW_004936470:44,676,776...44,710,716
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Pop1 |
POP1 homolog, ribonuclease P/MRP subunit |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition |
OMIM ClinVar |
PMID:21455487 PMID:21534943 PMID:25741868 PMID:27380734 PMID:28067412 PMID:28492532 PMID:30408610 More...
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NCBI chrNW_004936470:44,676,798...44,710,397
Ensembl chrNW_004936470:44,676,776...44,710,716
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Nepro |
nucleolus and neural progenitor protein |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia 3 |
OMIM ClinVar |
PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547 |
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NCBI chrNW_004936536:641,085...655,177
Ensembl chrNW_004936536:638,961...655,159
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Angptl5 |
angiopoietin like 5 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,923,148...5,945,927
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B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936881:396,930...411,059
Ensembl chrNW_004936881:396,930...411,031
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Birc2 |
baculoviral IAP repeat containing 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,515,904...5,535,864
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Birc3 |
baculoviral IAP repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,544,047...5,556,550
Ensembl chrNW_004936551:5,544,065...5,556,555
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C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26092869 |
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NCBI chrNW_004936498:3,099,419...3,242,334
Ensembl chrNW_004936498:3,099,396...3,242,335
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Cep120 |
centrosomal protein 120 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936575:3,695,473...3,770,522
Ensembl chrNW_004936575:3,695,377...3,770,687
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Cep126 |
centrosomal protein 126 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,843,852...5,917,028
Ensembl chrNW_004936551:5,843,765...5,917,068
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Cfap300 |
cilia and flagella associated protein 300 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,766,757...5,797,491
Ensembl chrNW_004936551:5,766,610...5,797,531
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Cilk1 |
ciliogenesis associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27466187 |
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NCBI chrNW_004936476:7,830,714...7,869,533
Ensembl chrNW_004936476:7,813,064...7,869,545
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 PMID:29620724 More...
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NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853
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Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936469:13,628,830...13,808,970
Ensembl chrNW_004936469:13,631,182...13,770,257
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Dcun1d5 |
defective in cullin neddylation 1 domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:4,936,337...4,966,053
Ensembl chrNW_004936551:4,936,293...4,966,088
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Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:19763152 PMID:20307669 PMID:21211617 PMID:22406018 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24183451 PMID:24759409 PMID:24781753 PMID:25356970 PMID:25410398 PMID:25492405 PMID:25640679 PMID:25741868 PMID:25982780 PMID:26489029 PMID:26826164 PMID:26874042 PMID:26938784 PMID:27323140 PMID:27353043 PMID:27925158 PMID:28492532 PMID:28518170 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29096039 PMID:29359448 PMID:29453417 PMID:29620724 PMID:29947050 PMID:30190612 PMID:30655312 PMID:30773290 PMID:31413057 PMID:31415973 PMID:31730820 PMID:31935347 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33452237 PMID:33532864 PMID:33694158 PMID:33726816 PMID:33755199 PMID:33846808 PMID:33875766 PMID:34040173 PMID:34529350 PMID:34627339 PMID:34675960 PMID:34740920 PMID:34788402 PMID:34958143 PMID:35277174 PMID:35506549 PMID:35587316 PMID:35627109 PMID:35929941 PMID:36599940 More...
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NCBI chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825
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Dync2i1 |
dynein 2 intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chrNW_004936856:724,863...792,490
Ensembl chrNW_004936856:725,076...792,725
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Dync2i2 |
dynein 2 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29241935 PMID:32576942 More...
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NCBI chrNW_004936487:16,142,659...16,157,929
Ensembl chrNW_004936487:16,142,658...16,157,804
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Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936508:8,119,733...8,149,022
Ensembl chrNW_004936508:8,118,589...8,149,035
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Dynlt2b |
dynein light chain Tctex-type 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936784:940,300...954,959
Ensembl chrNW_004936784:940,168...955,412
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Evc2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16199547 PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936477:17,835,479...17,938,014
Ensembl chrNW_004936477:17,837,964...17,937,975
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11241532 PMID:11529856 PMID:12833394 PMID:15772091 PMID:16841094 PMID:18642369 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:36135330 PMID:36474027 More...
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NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
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Flvcr1 |
FLVCR choline and heme transporter 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27666822 |
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NCBI chrNW_004936557:693,445...727,166
Ensembl chrNW_004936557:692,489...726,965
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Fuz |
fuzzy planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chrNW_004936664:3,596,764...3,601,676
Ensembl chrNW_004936664:3,596,952...3,601,342
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Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657
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Grk2 |
G protein-coupled receptor kinase 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:33200460 |
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NCBI chrNW_004936599:2,437,061...2,456,141
Ensembl chrNW_004936599:2,437,032...2,456,147
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Ift140 |
intraflagellar transport 140 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29688594 PMID:30773290 PMID:32483926 PMID:34429528 PMID:34890546 More...
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NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520
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Ift172 |
intraflagellar transport 172 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160
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Ift43 |
intraflagellar transport 43 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 PMID:29068549 |
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NCBI chrNW_004936488:5,011,792...5,090,980
Ensembl chrNW_004936488:5,011,642...5,091,007
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Ift52 |
intraflagellar transport 52 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27466190 PMID:28492532 PMID:29068549 |
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NCBI chrNW_004936530:2,965,587...3,003,758
Ensembl chrNW_004936530:2,967,533...3,003,980
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Ift74 |
intraflagellar transport 74 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chrNW_004936611:2,588,711...2,660,496
Ensembl chrNW_004936611:2,588,695...2,660,532
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Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome |
ClinVar |
PMID:9536098 PMID:11727201 PMID:12673792 PMID:16199547 PMID:16385454 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:19763152 PMID:20301601 PMID:20307669 PMID:21227999 PMID:22406018 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29658880 PMID:29923190 PMID:30266093 PMID:30767363 PMID:33957996 More...
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NCBI chrNW_004936708:238,302...362,537
Ensembl chrNW_004936708:238,268...362,519
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Ift81 |
intraflagellar transport 81 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 |
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NCBI chrNW_004936558:3,177,418...3,251,439
Ensembl chrNW_004936558:3,179,951...3,250,870
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Ift88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chrNW_004936720:1,041,216...1,168,725
Ensembl chrNW_004936720:1,041,211...1,168,748
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Intu |
inturned planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:27158779 PMID:29068549 |
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NCBI chrNW_004936642:2,950,197...3,025,079
Ensembl chrNW_004936642:2,921,852...3,025,083
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Kiaa0586 |
KIAA0586 ortholog |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936495:2,799,738...2,933,157
Ensembl chrNW_004936495:2,800,384...2,931,856
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Kiaa0753 |
KIAA0753 ortholog |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350 |
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NCBI chrNW_004936677:1,354,601...1,415,462
Ensembl chrNW_004936677:1,360,003...1,415,652
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Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 |
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NCBI chrNW_004936526:2,254,463...2,282,785
Ensembl chrNW_004936526:2,254,449...2,282,785
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Matn3 |
matrilin 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936493:11,352,206...11,371,596
Ensembl chrNW_004936493:11,352,206...11,371,349
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Mmp1 |
matrix metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857
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Mmp10 |
matrix metallopeptidase 10 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,188,395...5,197,477
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Mmp12 |
matrix metallopeptidase 12 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,107,567...5,117,843
Ensembl chrNW_004936551:5,106,285...5,117,843
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Mmp13 |
matrix metallopeptidase 13 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,040,084...5,050,384
Ensembl chrNW_004936551:5,040,084...5,050,384
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Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,310,426...5,352,883
Ensembl chrNW_004936551:5,310,426...5,352,883
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Mmp27 |
matrix metallopeptidase 27 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,253,762...5,262,426
Ensembl chrNW_004936551:5,253,762...5,262,426
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Mmp7 |
matrix metallopeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,388,456...5,395,071
Ensembl chrNW_004936551:5,388,459...5,395,071
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Mmp8 |
matrix metallopeptidase 8 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,228,950...5,238,948
Ensembl chrNW_004936551:5,228,950...5,238,948
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Nek1 |
NIMA related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:22499340 PMID:23757202 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chrNW_004936516:1,508,800...1,666,841
Ensembl chrNW_004936516:1,508,811...1,666,869
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G |
Rab34 |
RAB34, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Jeune's syndrome |
ClinVar |
PMID:25741868 PMID:37619988 |
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NCBI chrNW_004936538:4,923,740...4,928,798
Ensembl chrNW_004936538:4,923,424...4,928,809
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936469:14,072,182...14,180,552
Ensembl chrNW_004936469:14,101,868...14,179,998
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936469:13,063,971...13,153,030
Ensembl chrNW_004936469:13,064,043...13,152,974
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G |
Sltm |
SAFB like transcription modulator |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:27666822 |
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NCBI chrNW_004936471:20,038,137...20,082,410
Ensembl chrNW_004936471:20,039,081...20,081,721
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G |
Smarcad1 |
SNF2 related chromatin remodeling ATPase with DExD box 1 |
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ISO |
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MouseDO |
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NCBI chrNW_004936687:1,728,848...1,803,992
Ensembl chrNW_004936687:1,729,417...1,803,992
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G |
Sptan1 |
spectrin alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:24183451 PMID:28492532 PMID:29068549 |
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NCBI chrNW_004936487:16,071,043...16,142,662
Ensembl chrNW_004936487:16,070,996...16,142,662
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G |
Tmem123 |
transmembrane protein 123 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,433,528...5,495,529
Ensembl chrNW_004936551:5,447,563...5,495,530
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G |
Traf3ip1 |
TRAF3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549 |
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NCBI chrNW_004936525:115,614...174,641
Ensembl chrNW_004936525:115,479...174,694
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G |
Trpc6 |
transient receptor potential cation channel subfamily C member 6 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chrNW_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar Annotator: match by term: Thoracic pelvic phalangeal dystrophy |
ClinVar |
PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24033266 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25640679 PMID:25741868 PMID:25741905 PMID:26068938 PMID:26294094 PMID:26489029 PMID:26940125 PMID:27491411 PMID:28124483 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:32173348 PMID:33323469 PMID:33532864 PMID:33547761 PMID:33875766 PMID:36263627 More...
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NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340
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G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26275793 PMID:26489029 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 PMID:31216405 PMID:33875766 More...
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NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
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G |
Wdr35 |
WD repeat domain 35 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936493:11,374,681...11,435,792
Ensembl chrNW_004936493:11,374,671...11,436,233
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G |
Yap1 |
Yes1 associated transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chrNW_004936551:5,638,383...5,740,523
Ensembl chrNW_004936551:5,634,751...5,740,567
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:26077881 |
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NCBI chrNW_004936508:8,093,804...8,117,467
Ensembl chrNW_004936508:8,093,804...8,116,877
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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|
NCBI chrNW_004936469:13,628,830...13,808,970
Ensembl chrNW_004936469:13,631,182...13,770,257
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 PMID:28492532 PMID:29068549 PMID:34740920 More...
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|
NCBI chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825
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G |
Dync2i1 |
dynein 2 intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
|
NCBI chrNW_004936856:724,863...792,490
Ensembl chrNW_004936856:725,076...792,725
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 PMID:32815859 More...
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|
NCBI chrNW_004936508:8,119,733...8,149,022
Ensembl chrNW_004936508:8,118,589...8,149,035
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G |
Evc2 |
EvC ciliary complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936477:17,835,479...17,938,014
Ensembl chrNW_004936477:17,837,964...17,937,975
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657
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G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29688594 PMID:30773290 More...
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|
NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520
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G |
Ift172 |
intraflagellar transport 172 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160
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G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19648123 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 More...
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|
NCBI chrNW_004936708:238,302...362,537
Ensembl chrNW_004936708:238,268...362,519
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G |
Lbr |
lamin B receptor |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 |
|
NCBI chrNW_004936526:2,254,463...2,282,785
Ensembl chrNW_004936526:2,254,449...2,282,785
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G |
Nek1 |
NIMA related kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936516:1,508,800...1,666,841
Ensembl chrNW_004936516:1,508,811...1,666,869
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G |
Rab34 |
RAB34, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:37619988 |
|
NCBI chrNW_004936538:4,923,740...4,928,798
Ensembl chrNW_004936538:4,923,424...4,928,809
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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|
NCBI chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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|
NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chrNW_004936469:14,072,182...14,180,552
Ensembl chrNW_004936469:14,101,868...14,179,998
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chrNW_004936469:13,063,971...13,153,030
Ensembl chrNW_004936469:13,064,043...13,152,974
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340
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G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 PMID:31216405 More...
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|
NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
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|
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G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 PMID:30767363 More...
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|
NCBI chrNW_004936708:238,302...362,537
Ensembl chrNW_004936708:238,268...362,519
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G |
Bag3 |
BAG cochaperone 3 |
|
ISO |
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I |
ClinVar |
PMID:21361913 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936486:8,985,871...9,007,461
Ensembl chrNW_004936486:8,985,761...9,007,502
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-related disorder | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
OMIM ClinVar |
PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24183451 PMID:24759409 PMID:25326635 PMID:25356970 PMID:25410398 PMID:25492405 PMID:25741868 PMID:25741887 PMID:25741891 PMID:26489029 PMID:26826164 PMID:26874042 PMID:26938784 PMID:27353043 PMID:27925158 PMID:28492532 PMID:28518170 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29453417 PMID:29947050 PMID:30190612 PMID:30655312 PMID:30773290 PMID:31415973 PMID:31730820 PMID:31935347 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33532864 PMID:33694158 PMID:33755199 PMID:33875766 PMID:34040173 PMID:34529350 PMID:34627339 PMID:34740920 PMID:34788402 PMID:34853893 PMID:34958143 PMID:35587316 PMID:35627109 PMID:35929941 PMID:36352425 PMID:36599940 PMID:36797717 PMID:37091781 More...
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|
NCBI chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825
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G |
Dync2i1 |
dynein 2 intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chrNW_004936856:724,863...792,490
Ensembl chrNW_004936856:725,076...792,725
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G |
Dync2i2 |
dynein 2 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:29068549 |
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NCBI chrNW_004936487:16,142,659...16,157,929
Ensembl chrNW_004936487:16,142,658...16,157,804
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Dynlt2b |
dynein light chain Tctex-type 2B |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936784:940,300...954,959
Ensembl chrNW_004936784:940,168...955,412
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G |
Fam98c |
family with sequence similarity 98 member C |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chrNW_004936801:1,162,178...1,166,621
Ensembl chrNW_004936801:1,162,132...1,167,090
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
OMIM:613091 |
MouseDO |
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NCBI chrNW_004936708:238,302...362,537
Ensembl chrNW_004936708:238,268...362,519
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G |
Kif24 |
kinesin family member 24 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chrNW_004936524:2,375,133...2,417,096
Ensembl chrNW_004936524:2,375,981...2,417,096
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Nek1 |
NIMA related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
ClinVar |
PMID:21211617 PMID:25741868 |
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NCBI chrNW_004936516:1,508,800...1,666,841
Ensembl chrNW_004936516:1,508,811...1,666,869
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Tmem256 |
transmembrane protein 256 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chrNW_004936595:686,786...687,926
Ensembl chrNW_004936595:686,789...687,909
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:22773737 PMID:23559409 PMID:24033266 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26294094 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:33532864 PMID:36263627 More...
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NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340
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Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26355662 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:29121203 PMID:29801666 PMID:30266093 PMID:30586318 PMID:31054281 PMID:31216405 PMID:31725169 PMID:31837199 PMID:32037395 PMID:32165824 PMID:32483926 PMID:33002628 PMID:33517396 PMID:33532864 PMID:33875766 PMID:34295353 PMID:34529350 PMID:34906470 PMID:36909829 More...
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NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
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Slc26a2 |
solute carrier family 26 member 2 |
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ISO |
ClinVar Annotator: match by term: Atelosteogenesis |
ClinVar |
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NCBI chrNW_004936504:4,990,996...5,005,658
Ensembl chrNW_004936504:4,991,080...5,005,877
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Flnb |
filamin B |
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ISO |
ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia |
OMIM ClinVar |
PMID:14991055 PMID:16752402 PMID:20301736 PMID:22190451 PMID:24624349 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936473:8,268,326...8,413,955
Ensembl chrNW_004936473:8,268,496...8,411,975
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G |
Slc26a2 |
solute carrier family 26 member 2 |
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ISO |
ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1 |
OMIM ClinVar |
PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:11727031 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:15720248 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 PMID:30423444 PMID:31880411 PMID:34064542 More...
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NCBI chrNW_004936504:4,990,996...5,005,658
Ensembl chrNW_004936504:4,991,080...5,005,877
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G |
Flnb |
filamin B |
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ISO |
ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III |
OMIM ClinVar |
PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:22190451 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936473:8,268,326...8,413,955
Ensembl chrNW_004936473:8,268,496...8,411,975
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G |
Sost |
sclerostin |
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ISO |
ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant |
OMIM ClinVar |
PMID:17853455 PMID:21221996 PMID:25741868 |
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NCBI chrNW_004936541:313,308...318,109
Ensembl chrNW_004936541:313,287...318,176
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Ankh |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant |
OMIM ClinVar |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31130284 More...
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NCBI chrNW_004936665:1,520,800...1,654,388
Ensembl chrNW_004936665:1,520,800...1,653,816
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Otulin |
OTU deubiquitinase with linear linkage specificity |
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ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant |
ClinVar |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:28492532 PMID:31130284 More...
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NCBI chrNW_004936665:1,654,045...1,690,955
Ensembl chrNW_004936665:1,668,311...1,690,918
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Lrp5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I |
OMIM ClinVar |
PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 PMID:11741193 PMID:12015390 PMID:12054167 PMID:12579474 PMID:15024691 PMID:15077203 PMID:15201508 PMID:15619672 PMID:15767861 PMID:15777745 PMID:15824851 PMID:15824861 PMID:15850991 PMID:16234968 PMID:16252235 PMID:16679074 PMID:17137849 PMID:17202888 PMID:17223614 PMID:17306638 PMID:17307038 PMID:17576681 PMID:18058054 PMID:18349089 PMID:18521528 PMID:18588671 PMID:18602879 PMID:19324841 PMID:21528003 PMID:22456437 PMID:23318847 PMID:23441120 PMID:24423337 PMID:24706814 PMID:24715757 PMID:25711638 PMID:25741868 PMID:25920554 PMID:26348019 PMID:26467025 PMID:28192794 PMID:28378289 PMID:28420620 PMID:28492532 PMID:28494495 PMID:29168297 PMID:29181528 PMID:30283887 PMID:30452590 PMID:31039433 PMID:33118644 PMID:33939331 PMID:34639175 PMID:34860240 PMID:35106624 More...
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NCBI chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321
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Clcn7 |
chloride voltage-gated channel 7 |
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ISO |
ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 |
OMIM ClinVar |
PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 PMID:15111300 PMID:16118345 PMID:17164308 PMID:17576681 PMID:19238435 PMID:19543743 PMID:19953639 PMID:20301306 PMID:21527911 PMID:21947783 PMID:21962762 PMID:23296056 PMID:23983121 PMID:25741868 PMID:26056022 PMID:26365571 PMID:28492532 PMID:29620724 PMID:30229577 PMID:30942407 PMID:31412925 PMID:32369273 PMID:32552793 PMID:32860008 More...
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NCBI chrNW_004936694:2,444,321...2,467,734
Ensembl chrNW_004936694:2,444,343...2,467,733
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G |
Plekhm1 |
pleckstrin homology and RUN domain containing M1 |
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ISO |
ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 |
OMIM ClinVar |
PMID:17997709 PMID:25741868 |
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NCBI chrNW_004936541:1,685,902...1,732,361
Ensembl chrNW_004936541:1,685,923...1,732,420
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G |
Gja1 |
gap junction protein alpha 1 |
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ISO |
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive |
OMIM ClinVar |
PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987
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G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC |
OMIM ClinVar |
PMID:16199547 PMID:19836010 PMID:22829427 PMID:24033266 PMID:25741868 PMID:25882708 PMID:28492532 PMID:31115174 PMID:35972031 More...
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NCBI chrNW_004936661:2,919,444...2,945,847
Ensembl chrNW_004936661:2,919,550...2,945,599
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Ccdc154 |
coiled-coil domain containing 154 |
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ISO |
OMIM:259700 |
MouseDO |
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NCBI chrNW_004936694:2,468,281...2,475,901
Ensembl chrNW_004936694:2,468,281...2,475,487
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G |
Plekhm1 |
pleckstrin homology and RUN domain containing M1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 |
ClinVar |
PMID:35342016 PMID:36195244 |
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NCBI chrNW_004936541:1,685,902...1,732,361
Ensembl chrNW_004936541:1,685,923...1,732,420
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G |
Tcirg1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: Marble bones autosomal recessive | ClinVar Annotator: match by term: TCIRG1-related condition |
OMIM ClinVar |
PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 PMID:12507890 PMID:12552563 PMID:12566520 PMID:14675409 PMID:15300850 PMID:16199547 PMID:16840787 PMID:17400532 PMID:17576681 PMID:18715141 PMID:19448635 PMID:19507210 PMID:20424301 PMID:21042819 PMID:22231430 PMID:22685294 PMID:23412864 PMID:23721911 PMID:24033266 PMID:24101165 PMID:24108692 PMID:24535484 PMID:24753205 PMID:24989235 PMID:25018813 PMID:25326635 PMID:25525159 PMID:25741868 PMID:25829125 PMID:26264438 PMID:26777052 PMID:27229898 PMID:28492532 PMID:28604959 PMID:28816234 PMID:29363653 PMID:29431110 PMID:29723947 PMID:30084437 PMID:30431110 PMID:30537558 PMID:30539151 PMID:30898715 PMID:31111556 PMID:31319225 PMID:31501239 PMID:31567691 PMID:31589614 PMID:31949009 PMID:31949762 PMID:32411386 PMID:34753502 PMID:35915932 More...
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NCBI chrNW_004936599:2,070,211...2,079,169
Ensembl chrNW_004936599:2,066,847...2,079,206
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Tnfsf11 |
TNF superfamily member 11 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor |
OMIM ClinVar |
PMID:17632511 PMID:20499338 PMID:21541994 PMID:23762088 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936747:1,255,803...1,288,252
Ensembl chrNW_004936747:1,255,803...1,288,252
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Ca2 |
carbonic anhydrase 2 |
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ISO |
ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis |
OMIM ClinVar |
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 PMID:7627193 PMID:8127074 PMID:8128957 PMID:8834238 PMID:12566520 PMID:15300855 PMID:18060825 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936544:362,591...379,151
Ensembl chrNW_004936544:362,591...380,223
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Clcn7 |
chloride voltage-gated channel 7 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2 |
OMIM ClinVar |
PMID:1516225 PMID:11207362 PMID:11468688 PMID:11741829 PMID:14584882 PMID:16118345 PMID:16234969 PMID:17033731 PMID:17164308 PMID:19543743 PMID:19953639 PMID:20301306 PMID:21527911 PMID:21947783 PMID:21962762 PMID:23296056 PMID:23983121 PMID:25741868 PMID:26056022 PMID:26365571 PMID:28492532 PMID:29620724 PMID:30229577 PMID:30942407 PMID:31412925 PMID:32369273 PMID:32552793 PMID:32860008 PMID:199553639 More...
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NCBI chrNW_004936694:2,444,321...2,467,734
Ensembl chrNW_004936694:2,444,343...2,467,733
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G |
Ostm1 |
osteoclastogenesis associated transmembrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3 |
OMIM ClinVar |
PMID:12627228 PMID:16813530 PMID:25741868 PMID:28492532 PMID:28612835 PMID:34753502 More...
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NCBI chrNW_004936564:4,301,569...4,332,070
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G |
Plekhm1 |
pleckstrin homology and RUN domain containing M1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6 |
OMIM ClinVar |
PMID:17404618 PMID:25741868 |
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NCBI chrNW_004936541:1,685,902...1,732,361
Ensembl chrNW_004936541:1,685,923...1,732,420
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G |
Tnfrsf11a |
TNF receptor superfamily member 11a |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 |
OMIM ClinVar |
PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936497:2,944,841...2,986,113
Ensembl chrNW_004936497:2,945,010...2,995,207
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G |
Snx10 |
sorting nexin 10 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 |
OMIM ClinVar |
PMID:22499339 PMID:23123320 PMID:23280965 PMID:25212774 PMID:25590979 PMID:25741868 PMID:25811986 PMID:27187610 PMID:28492532 More...
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NCBI chrNW_004936478:3,048,801...3,113,610
Ensembl chrNW_004936478:3,048,691...3,114,876
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G |
Slc4a2 |
solute carrier family 4 member 2 |
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ISO |
ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9 |
OMIM ClinVar |
PMID:25741868 PMID:34668226 |
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NCBI chrNW_004936527:6,485,566...6,499,901
Ensembl chrNW_004936527:6,485,511...6,499,924
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G |
Ccn6 |
cellular communication network factor 6 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spondyloepiphyseal dysplasia tarda |
ClinVar |
PMID:10471507 PMID:22791401 PMID:25741868 PMID:28492532 PMID:29258992 |
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NCBI chrNW_004936679:751,664...767,126
Ensembl chrNW_004936679:750,934...769,242
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G |
Cfap410 |
cilia and flagella associated protein 410 |
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ISO |
ClinVar Annotator: match by term: Axial SMD | ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia |
OMIM ClinVar |
PMID:11702989 PMID:20503334 PMID:21910225 PMID:23105016 PMID:25741868 PMID:26167768 PMID:26974433 PMID:27548899 PMID:27596865 PMID:28041643 PMID:28422394 PMID:28492532 PMID:33307614 PMID:34906470 More...
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NCBI chrNW_004936500:82,702...90,525
Ensembl chrNW_004936500:82,716...90,523
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:26826164 PMID:28492532 PMID:29068549 |
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NCBI chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825
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G |
Evc2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:17024374 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936477:17,835,479...17,938,014
Ensembl chrNW_004936477:17,837,964...17,937,975
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:28492532 PMID:29068549 |
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NCBI chrNW_004936708:238,302...362,537
Ensembl chrNW_004936708:238,268...362,519
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G |
Nek1 |
NIMA related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:29068549 |
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NCBI chrNW_004936516:1,508,800...1,666,841
Ensembl chrNW_004936516:1,508,811...1,666,869
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 PMID:25492405 PMID:25741868 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
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G |
Ankrd37 |
ankyrin repeat domain 37 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936554:3,945,343...3,948,155
Ensembl chrNW_004936554:3,944,205...3,948,450
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Cfap96 |
cilia and flagella associated protein 96 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chrNW_004936554:3,908,570...3,925,957
Ensembl chrNW_004936554:3,908,413...3,925,942
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Ufsp2 |
UFM1 specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip |
OMIM ClinVar |
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 PMID:28892125 PMID:33473208 More...
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NCBI chrNW_004936554:3,926,046...3,945,575
Ensembl chrNW_004936554:3,925,982...3,948,450
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Flnb |
filamin B |
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ISO |
ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia |
OMIM ClinVar |
PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936473:8,268,326...8,413,955
Ensembl chrNW_004936473:8,268,496...8,411,975
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Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25669657 |
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NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471
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Papss2 |
3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia |
ClinVar |
PMID:22791835 PMID:23633440 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936735:1,437,108...1,516,382
Ensembl chrNW_004936735:1,436,153...1,516,378
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Trpv4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia | ClinVar Annotator: match by term: Brachyrachia |
ClinVar |
PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21964574 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24577120 PMID:24677493 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25703509 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28898540 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31475037 PMID:32376792 PMID:34529350 PMID:37091313 PMID:39033378 More...
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NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516
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Trpv4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type |
ClinVar |
PMID:4056805 PMID:6628444 PMID:8179305 PMID:12884428 PMID:14755468 PMID:17879966 PMID:19232556 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25802885 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 PMID:34529350 PMID:39033378 More...
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NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516
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Trpv4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia Type 3 | ClinVar Annotator: match by term: Brachyolmia autosomal dominant |
OMIM ClinVar |
PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21964574 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24577120 PMID:24677493 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25703509 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28898540 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31475037 PMID:32376792 PMID:34529350 PMID:37091313 PMID:39033378 More...
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NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516
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Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6 |
OMIM ClinVar |
PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 PMID:19344874 PMID:25640679 PMID:25669657 PMID:25741868 PMID:25899461 PMID:28492532 PMID:29625025 PMID:30887145 PMID:33082559 PMID:34906192 PMID:35998423 More...
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NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471
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Scyl1 |
SCY1 like pseudokinase 1 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936599:3,918,325...3,928,415
Ensembl chrNW_004936599:3,918,469...3,928,421
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Kif15 |
kinesin family member 15 |
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ISO |
ClinVar Annotator: match by term: Braddock-carey syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:28150392 |
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NCBI chrNW_004936695:861,324...919,368
Ensembl chrNW_004936695:861,550...919,368
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Csf1r |
colony stimulating factor 1 receptor |
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ISO |
ClinVar Annotator: match by term: Brain abnormalities, neurodegeneration, and dysosteosclerosis |
OMIM ClinVar |
PMID:8614507 PMID:22503135 PMID:23408870 PMID:24120500 PMID:24145216 PMID:24336230 PMID:25012610 PMID:25563800 PMID:25741868 PMID:28492532 PMID:30982608 PMID:30982609 PMID:32055602 PMID:36943150 More...
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NCBI chrNW_004936504:4,898,947...4,927,195
Ensembl chrNW_004936504:4,898,945...4,928,923
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Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Bronchomalacia |
ClinVar |
PMID:16835904 PMID:24033266 PMID:25741868 |
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NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289
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Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome |
ClinVar |
PMID:16199547 PMID:22689593 PMID:22949511 PMID:25741868 PMID:28492532 PMID:32770541 More...
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NCBI chrNW_004936490:16,712,843...16,720,438
Ensembl chrNW_004936490:16,712,761...16,720,499
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Plod2 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES |
ClinVar |
PMID:25086671 PMID:25741868 PMID:28492532 PMID:37076969 |
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NCBI chrNW_004936519:9,053,192...9,139,221
Ensembl chrNW_004936519:9,053,033...9,140,059
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 1 |
ClinVar |
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NCBI chrNW_004936585:5,650,322...5,686,393
Ensembl chrNW_004936585:5,651,180...5,685,923
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Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis-like disorder | ClinVar Annotator: match by term: Bruck syndrome 1 |
OMIM ClinVar |
PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:23712425 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 PMID:29620724 PMID:30715774 More...
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NCBI chrNW_004936490:16,712,843...16,720,438
Ensembl chrNW_004936490:16,712,761...16,720,499
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Plod2 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 2 | ClinVar Annotator: match by term: PLOD2-related condition |
OMIM ClinVar |
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28116328 PMID:28492532 PMID:29177700 PMID:29178448 PMID:31472299 PMID:31785789 PMID:32655337 PMID:33664768 PMID:33778323 PMID:35278031 PMID:37076969 More...
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NCBI chrNW_004936519:9,053,192...9,139,221
Ensembl chrNW_004936519:9,053,033...9,140,059
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Eln |
elastin |
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ISO |
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RGD |
PMID:1629625 |
RGD:9585749 |
NCBI chrNW_004936543:3,135,169...3,165,023
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Lemd3 |
LEM domain containing 3 |
no_association |
ISO |
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS |
OMIM ClinVar RGD |
PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 PMID:17223882 PMID:19438932 PMID:20083694 PMID:25741868 PMID:27382493 PMID:28434888 PMID:28492532 More...
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RGD:11553842 |
NCBI chrNW_004936545:3,385,821...3,453,861
Ensembl chrNW_004936545:3,385,062...3,454,243
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A4galt |
alpha 1,4-galactosyltransferase (P1PK blood group) |
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ISO |
ClinVar Annotator: match by term: Infantile cortical hyperostosis |
ClinVar |
PMID:20971946 PMID:28492532 |
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NCBI chrNW_004936718:594,462...630,926
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Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis |
OMIM ClinVar |
PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:20696291 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23443412 PMID:23587214 PMID:23692737 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24390061 PMID:24668929 PMID:24767406 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26627451 PMID:26633542 PMID:26712438 PMID:27011056 PMID:27044453 PMID:27060301 PMID:27132807 PMID:27146342 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28102596 PMID:28116328 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30665703 PMID:30692697 PMID:30715774 PMID:30886339 PMID:31304589 PMID:31447884 PMID:31584903 PMID:32166892 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 More...
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NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
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Sgms2 |
sphingomyelin synthase 2 |
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ISO |
ClinVar Annotator: match by term: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | ClinVar Annotator: match by term: Doughnut lesions of skull, familial |
OMIM ClinVar |
PMID:19839042 PMID:25741868 PMID:28492532 PMID:30779713 PMID:32028018 |
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NCBI chrNW_004936818:687,695...726,123
Ensembl chrNW_004936818:683,659...726,174
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Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: CDL |
ClinVar |
PMID:18414213 |
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NCBI chrNW_004936751:332,351...388,756
Ensembl chrNW_004936751:349,597...388,755
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Kcnj2 |
potassium inwardly rectifying channel subfamily J member 2 |
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ISO |
ClinVar Annotator: match by term: Camptomelic dysplasia |
ClinVar |
PMID:9002675 PMID:10213041 PMID:11371614 PMID:15060123 PMID:25983619 PMID:28492532 More...
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NCBI chrNW_004936655:3,447,026...3,459,569
Ensembl chrNW_004936655:3,447,321...3,458,312
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Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: Acampomelic campomelic dysplasia | ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Camptomelic dysplasia | ClinVar Annotator: match by term: SOX9-related condition |
OMIM ClinVar |
PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:9452058 PMID:9536098 PMID:10213041 PMID:10951468 PMID:11076045 PMID:11323423 PMID:11371614 PMID:12783851 PMID:12810722 PMID:15060123 PMID:15300742 PMID:15806394 PMID:16199547 PMID:17576681 PMID:19033726 PMID:19449405 PMID:19921652 PMID:20301724 PMID:20513132 PMID:21218044 PMID:21373255 PMID:21412441 PMID:21614988 PMID:23564514 PMID:24038782 PMID:24451061 PMID:25741868 PMID:25983619 PMID:26078652 PMID:26633542 PMID:26740947 PMID:27899157 PMID:28492532 PMID:29542186 PMID:31389106 PMID:32381727 PMID:32595695 PMID:34092239 More...
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NCBI chrNW_004936655:1,849,044...1,852,648
Ensembl chrNW_004936655:1,847,272...1,852,705
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Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal |
ClinVar |
PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:11076045 PMID:11323423 PMID:12810722 PMID:15806394 PMID:20301724 PMID:21412441 PMID:25741868 PMID:26078652 PMID:26633542 PMID:28492532 PMID:31389106 PMID:34092239 More...
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NCBI chrNW_004936655:1,849,044...1,852,648
Ensembl chrNW_004936655:1,847,272...1,852,705
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Lrp5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Diaphyseal dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321
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Mitf |
melanocyte inducing transcription factor |
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ISO |
OMIM:131300 | OMIM:606631 |
MouseDO |
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NCBI chrNW_004936603:1,682,411...1,858,295
Ensembl chrNW_004936603:1,682,513...1,858,173
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Tgfb1 |
transforming growth factor beta 1 |
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ISO |
ClinVar Annotator: match by term: Diaphyseal dysplasia |
OMIM ClinVar |
PMID:10973241 PMID:11062463 PMID:11278244 PMID:11810278 PMID:12493741 PMID:12843182 PMID:15103729 PMID:15326622 PMID:16207846 PMID:17206397 PMID:17293864 PMID:18292811 PMID:18424453 PMID:19584867 PMID:19654961 PMID:20308061 PMID:23846138 PMID:24154985 PMID:25099136 PMID:25741868 PMID:28492532 PMID:30034812 PMID:30690794 PMID:30721323 PMID:32154989 PMID:35315241 PMID:35415221 PMID:36339419 More...
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NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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G |
Mymk |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE |
ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 More...
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NCBI chrNW_004936669:3,404,729...3,413,123
Ensembl chrNW_004936669:3,404,704...3,413,136
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Mymk |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 |
OMIM ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 |
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NCBI chrNW_004936669:3,404,729...3,413,123
Ensembl chrNW_004936669:3,404,704...3,413,136
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Mymx |
myomixer, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 |
OMIM ClinVar |
PMID:35642635 |
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NCBI chrNW_004936476:15,863,807...15,864,357
Ensembl chrNW_004936476:15,863,807...15,864,161
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Ccdc107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Cartilage-hair hypoplasia |
ClinVar |
PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:18804272 PMID:25741868 PMID:28094436 PMID:28492532 More...
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NCBI chrNW_004936524:3,657,094...3,659,851
Ensembl chrNW_004936524:3,657,170...3,659,821
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G |
Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
OMIM ClinVar |
PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 PMID:30041933 PMID:30419932 PMID:33327715 PMID:33972171 More...
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NCBI chrNW_004936650:2,056,921...2,112,487
Ensembl chrNW_004936650:2,056,921...2,112,767
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G |
Kynu |
kynureninase |
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ISO |
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME |
ClinVar |
PMID:25741868 PMID:31923704 PMID:33942433 |
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NCBI chrNW_004936469:33,632,885...33,805,158
Ensembl chrNW_004936469:33,632,892...33,734,433
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G |
Tgds |
TDP-glucose 4,6-dehydratase |
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ISO |
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome |
OMIM ClinVar |
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 PMID:26366375 PMID:28422407 PMID:28492532 PMID:31769200 PMID:31833187 More...
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NCBI chrNW_004936472:14,993,579...15,016,270
Ensembl chrNW_004936472:14,993,710...15,014,408
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G |
Add1 |
adducin 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:20,695,109...20,766,053
Ensembl chrNW_004936477:20,691,951...20,766,152
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G |
Atp5me |
ATP synthase membrane subunit e |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,416,505...22,417,543
Ensembl chrNW_004936477:22,416,539...22,417,543
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G |
Cplx1 |
complexin 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,315,827...22,338,488
Ensembl chrNW_004936477:22,316,018...22,338,475
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G |
Ctbp1 |
C-terminal binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,032,712...22,055,160
Ensembl chrNW_004936477:22,032,664...22,055,187
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G |
Dgkq |
diacylglycerol kinase theta |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,225,624...22,238,825
Ensembl chrNW_004936477:22,225,618...22,238,803
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G |
Fam193a |
family with sequence similarity 193 member A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:20,874,889...20,964,328
Ensembl chrNW_004936477:20,871,241...20,964,352
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G |
Fam53a |
family with sequence similarity 53 member A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,688,240...21,719,612
Ensembl chrNW_004936477:21,692,283...21,719,860
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
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G |
Fgfrl1 |
fibroblast growth factor receptor like 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,177,473...22,189,554
Ensembl chrNW_004936477:22,177,457...22,189,655
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Gak |
cyclin G associated kinase |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,254,109...22,300,827
Ensembl chrNW_004936477:22,253,471...22,300,932
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G |
Haus3 |
HAUS augmin like complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,250,707...21,265,997
Ensembl chrNW_004936477:21,241,328...21,265,988
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Hgfac |
HGF activator |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:20,291,791...20,298,764
Ensembl chrNW_004936477:20,291,852...20,298,764
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G |
Idua |
alpha-L-iduronidase |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,200,471...22,215,473
Ensembl chrNW_004936477:22,200,474...22,215,077
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G |
Letm1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,550,104...21,589,662
Ensembl chrNW_004936477:21,550,013...21,587,007
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G |
LOC101966195 |
huntingtin |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:20,443,101...20,577,167
Ensembl chrNW_004936477:20,443,113...20,577,071 Ensembl chrNW_004936477:20,443,113...20,577,071
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Maea |
macrophage erythroblast attacher, E3 ubiquitin ligase |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,959,465...21,996,395
Ensembl chrNW_004936477:21,959,465...21,996,937
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G |
Mfsd10 |
major facilitator superfamily domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:20,691,433...20,694,513
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G |
Msantd1 |
Myb/SANT DNA binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:20,431,866...20,438,330
Ensembl chrNW_004936477:20,431,861...20,440,848
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G |
Mxd4 |
MAX dimerization protein 4 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,233,026...21,246,202
Ensembl chrNW_004936477:21,235,288...21,246,202
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G |
Myl5 |
myosin light chain 5 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,410,303...22,416,940
Ensembl chrNW_004936477:22,410,270...22,413,184
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G |
Nat8l |
N-acetyltransferase 8 like |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,397,729...21,405,098
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Nelfa |
negative elongation factor complex member A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,442,493...21,459,999
Ensembl chrNW_004936477:21,442,380...21,464,005
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G |
Nkx1-1 |
NK1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,909,542...21,910,599
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Nop14 |
NOP14 nucleolar protein |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:20,668,817...20,689,931
Ensembl chrNW_004936477:20,668,688...20,691,694
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G |
Nsd2 |
nuclear receptor binding SET domain protein 2 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,460,442...21,531,563
Ensembl chrNW_004936477:21,460,478...21,534,909
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G |
Pcgf3 |
polycomb group ring finger 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,349,166...22,373,256
Ensembl chrNW_004936477:22,349,171...22,373,393
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G |
Pde6b |
phosphodiesterase 6B |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185
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G |
Pigg |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,524,227...22,563,536
Ensembl chrNW_004936477:22,523,729...22,563,708
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G |
Poln |
DNA polymerase nu |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,268,236...21,396,526
Ensembl chrNW_004936477:21,268,244...21,396,256
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G |
Rgs12 |
regulator of G protein signaling 12 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:20,300,528...20,388,212
Ensembl chrNW_004936477:20,300,521...20,388,221 Ensembl chrNW_004936477:20,300,521...20,388,221
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G |
Rit1 |
Ras like without CAAX 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936580:5,157,351...5,166,790
Ensembl chrNW_004936580:5,156,565...5,167,040
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G |
Rnf212 |
ring finger protein 212 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,122,854...22,173,324
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G |
Rnf4 |
ring finger protein 4 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,025,040...21,055,821
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G |
Sh3bp2 |
SH3 domain binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
OMIM ClinVar |
PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 PMID:16199547 PMID:16786512 PMID:17218256 PMID:17321449 PMID:17576681 PMID:18596838 PMID:19017279 PMID:19576004 PMID:20002873 PMID:20117257 PMID:21045962 PMID:21794028 PMID:22153076 PMID:22153077 PMID:22640988 PMID:22795151 PMID:23298620 PMID:24033266 PMID:24382142 PMID:24608212 PMID:24916406 PMID:25144740 PMID:25741868 PMID:26064398 PMID:27272835 PMID:28492532 PMID:28644570 PMID:28904407 PMID:30236129 PMID:34573280 More...
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NCBI chrNW_004936477:20,774,386...20,794,958
Ensembl chrNW_004936477:20,773,016...20,807,722
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G |
Slbp |
stem-loop histone mRNA binding protein |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,672,143...21,680,899
Ensembl chrNW_004936477:21,671,842...21,680,915
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G |
Slc26a1 |
solute carrier family 26 member 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,209,445...22,213,592
Ensembl chrNW_004936477:22,208,451...22,213,592
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G |
Slc49a3 |
solute carrier family 49 member 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,403,186...22,410,563
Ensembl chrNW_004936477:22,403,239...22,409,878
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G |
Spon2 |
spondin 2 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,087,450...22,093,677
Ensembl chrNW_004936477:22,087,394...22,093,723
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G |
Tacc3 |
transforming acidic coiled-coil containing protein 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,648,958...21,665,855
Ensembl chrNW_004936477:21,648,716...21,665,625
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G |
Tmem129 |
transmembrane protein 129, E3 ubiquitin ligase |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,665,955...21,670,667
Ensembl chrNW_004936477:21,665,275...21,670,668
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G |
Tmem175 |
transmembrane protein 175 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:22,239,093...22,254,028
Ensembl chrNW_004936477:22,239,093...22,254,439
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G |
Tnip2 |
TNFAIP3 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:20,810,188...20,841,537
Ensembl chrNW_004936477:20,834,849...20,841,535
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G |
Uvssa |
UV stimulated scaffold protein A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,918,091...21,950,895
Ensembl chrNW_004936477:21,918,062...21,950,904
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G |
Zfyve28 |
zinc finger FYVE-type containing 28 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936477:21,103,336...21,225,497
Ensembl chrNW_004936477:21,103,323...21,224,468
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G |
Erf |
ETS2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Chitayat syndrome |
OMIM ClinVar |
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 More...
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NCBI chrNW_004936706:255,479...263,154
Ensembl chrNW_004936706:255,407...263,179
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G |
Myl3 |
myosin light chain 3 |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
ClinVar |
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NCBI chrNW_004936596:649,887...655,110
Ensembl chrNW_004936596:649,875...655,110
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G |
Pth1r |
parathyroid hormone 1 receptor |
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ISO |
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
OMIM ClinVar |
PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 PMID:10523019 PMID:17164305 PMID:17576681 PMID:18559376 PMID:21404329 PMID:23771181 PMID:25741868 PMID:28492532 PMID:31986066 More...
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NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213
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G |
Ebp |
EBP cholestenol delta-isomerase |
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ISO |
CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10391218 PMID:18176751 |
RGD:734908 |
NCBI chrNW_004936721:508,716...515,968
Ensembl chrNW_004936721:509,374...515,918
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G |
Bpnt2 |
3'(2'), 5'-bisphosphate nucleotidase 2 |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type |
OMIM ClinVar |
PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 PMID:31130284 More...
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NCBI chrNW_004936496:3,498,534...3,521,939
Ensembl chrNW_004936496:3,500,303...3,521,673
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G |
Hdac6 |
histone deacetylase 6 |
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ISO |
ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
OMIM ClinVar |
PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936721:757,500...778,416
Ensembl chrNW_004936721:758,181...778,053
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G |
Hhat |
hedgehog acyltransferase |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome | ClinVar Annotator: match by term: Pseudohermaphrodism and chondrodysplasia |
OMIM ClinVar |
PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300 |
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NCBI chrNW_004936557:2,677,630...2,793,478
Ensembl chrNW_004936557:2,497,710...2,793,441
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G |
Agt |
angiotensinogen |
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ISO |
ClinVar Annotator: match by term: Large fontanelles |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
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G |
Runx2 |
RUNX family transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly |
OMIM ClinVar |
PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 PMID:11321595 PMID:11768584 PMID:11857736 PMID:12081718 PMID:12132307 PMID:12196916 PMID:12424590 PMID:15301373 PMID:15952089 PMID:16199547 PMID:16221346 PMID:19515746 PMID:19767586 PMID:20648631 PMID:20702542 PMID:21734816 PMID:22023169 PMID:23290074 PMID:24138303 PMID:24222232 PMID:24634175 PMID:25741868 PMID:26279653 PMID:26380986 PMID:27993330 PMID:28056872 PMID:28492532 PMID:28505335 PMID:28738062 PMID:29758562 PMID:29891876 PMID:30391578 PMID:31548836 PMID:32360898 PMID:33987976 More...
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NCBI chrNW_004936476:14,695,965...14,818,246
Ensembl chrNW_004936476:14,695,965...14,905,157
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G |
Supt3h |
SPT3 homolog, SAGA and STAGA complex component |
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ISO |
ClinVar Annotator: match by term: Cleidocranial dysostosis |
ClinVar |
PMID:33987976 |
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NCBI chrNW_004936476:14,857,428...15,336,145
Ensembl chrNW_004936476:14,866,970...15,334,893
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G |
Tbx1 |
T-box transcription factor 1 |
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ISO |
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RGD |
PMID:25209980 |
RGD:155641242 |
NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525
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G |
Cbfb |
core-binding factor subunit beta |
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ISO |
ClinVar Annotator: match by term: Cleidocranial dysplasia 2 |
OMIM ClinVar |
PMID:25741868 PMID:36241386 |
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NCBI chrNW_004936475:17,537,273...17,589,383
Ensembl chrNW_004936475:17,537,236...17,589,330
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G |
Lonp1 |
lon peptidase 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: Cerebral, ocular, dental, auricular, and skeletal syndrome | ClinVar Annotator: match by term: LONP1-related condition |
OMIM ClinVar |
PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 PMID:25741868 PMID:25741869 PMID:25808063 PMID:26034137 PMID:27878435 PMID:28492532 PMID:29408517 PMID:30304514 PMID:31636596 PMID:31923470 PMID:34547244 More...
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NCBI chrNW_004936588:3,265,344...3,287,035
Ensembl chrNW_004936588:3,265,512...3,287,181
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G |
P4hb |
prolyl 4-hydroxylase subunit beta |
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ISO |
ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features | ClinVar Annotator: match by term: Cole-Carpenter syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936594:5,368,199...5,379,215
Ensembl chrNW_004936594:5,367,816...5,379,252
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G |
Sec24d |
SEC24 homolog D, COPII coat complex component |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936869:485,706...566,591
Ensembl chrNW_004936869:522,706...563,704
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G |
P4hb |
prolyl 4-hydroxylase subunit beta |
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ISO |
ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 |
OMIM ClinVar |
PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 |
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NCBI chrNW_004936594:5,368,199...5,379,215
Ensembl chrNW_004936594:5,367,816...5,379,252
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G |
Sec24d |
SEC24 homolog D, COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition |
OMIM ClinVar |
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 PMID:30462379 More...
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NCBI chrNW_004936869:485,706...566,591
Ensembl chrNW_004936869:522,706...563,704
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G |
Col2a1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Cartilage collagen |
ClinVar |
PMID:1905723 PMID:7695699 PMID:8218237 PMID:8423604 PMID:9016532 PMID:10612821 PMID:15895462 PMID:17078022 PMID:17163530 PMID:17347327 PMID:19344236 PMID:20179744 PMID:20301479 PMID:22791362 PMID:25604898 PMID:25741868 PMID:26377240 PMID:26402641 PMID:26443184 PMID:26626311 PMID:27234559 PMID:27888646 PMID:28492532 PMID:30138938 PMID:30792901 PMID:32200603 PMID:33249554 PMID:34008892 PMID:34394176 PMID:35052477 More...
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NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853
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G |
Mitf |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
ClinVar OMIM |
PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27884168 PMID:27889061 PMID:28492532 PMID:30311386 PMID:34599368 More...
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NCBI chrNW_004936603:1,682,411...1,858,295
Ensembl chrNW_004936603:1,682,513...1,858,173
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