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G |
Acan |
aggrecan |
|
ISO |
DNA:deletion:exon |
RGD |
PMID:7920633 |
RGD:11570525 |
NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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G |
Adamtsl2 |
ADAMTS-like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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G |
Atf2 |
activating transcription factor 2 |
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ISS |
OMIM:215050 |
MouseDO |
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NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia |
ClinVar |
PMID:24033266 |
|
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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G |
Bcl2 |
BCL2, apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17954590 |
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NCBI chr13:22,689,783...22,853,920
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G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
acromesomelic chondrodysplasia and genital anomalies, OMIM:609441, DNA:deletion:exon |
RGD |
PMID:15805157 |
RGD:1600593 |
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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G |
Bpnt2 |
3'(2'), 5'-bisphosphate nucleotidase 2 |
|
ISO |
ClinVar Annotator: match by term: Chondrodysplasia |
ClinVar |
|
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NCBI chr 5:17,775,684...17,802,570
Ensembl chr 5:17,772,608...17,802,570
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G |
Cant1 |
calcium activated nucleotidase 1 |
|
ISO |
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia |
ClinVar |
PMID:28492532 PMID:28742282 |
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NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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G |
Chst11 |
carbohydrate sulfotransferase 11 |
|
ISO |
ClinVar Annotator: match by term: Chondrodysplasia |
ClinVar |
PMID:29514872 |
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NCBI chr 7:20,524,535...20,743,008
Ensembl chr 7:20,528,100...20,743,111
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G |
Chst3 |
carbohydrate sulfotransferase 3 |
susceptibility |
ISO |
spondyloepiphyseal dysplasia, Omani type, OMIM:608637;DNA:missense mutation:p.R304Q CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15215498 PMID:30200136 PMID:15215498 |
RGD:1600853, RGD:1600853 |
NCBI chr20:28,114,387...28,152,046
Ensembl chr20:28,114,404...28,121,807
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G |
Col10a1 |
collagen type X alpha 1 chain |
susceptibility |
ISO |
Schmid metaphyseal chondrodysplasia, OMIM:156500;DNA:deletion mutations, missense mutation: :1856delC, 1992delCT, p.C591R |
RGD |
PMID:8004099 |
RGD:1600880 |
NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494
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G |
Col11a1 |
collagen type XI alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19638309 |
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NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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G |
Col11a2 |
collagen type XI alpha 2 chain |
susceptibility |
ISO |
otospondylomegaepiphyseal dysplasia, OMIM:215150;DNA:mutations |
RGD |
PMID:10677296 |
RGD:1600883 |
NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R519C(human) DNA:mutation:cds:p.G1170S(mouse) |
CTD RGD |
PMID:8486375 PMID:15476249 PMID:24475193 |
RGD:11667106, RGD:11667103 |
NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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G |
Col9a1 |
collagen type IX alpha 1 chain |
susceptibility |
ISO |
DNA:mutation CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11565064 PMID:16909383 PMID:11565064 |
RGD:1600949 |
NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
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G |
Col9a2 |
collagen type IX alpha 2 chain |
susceptibility |
ISO |
DNA:splice-site mutation |
RGD |
PMID:8528240 |
RGD:1600952 |
NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677
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G |
Col9a3 |
collagen type IX alpha 3 chain |
|
ISO |
multiple epiphyseal dysplasia, OMIM:600969, DNA:splice-site mutation |
RGD |
PMID:10090888 |
RGD:1600695 |
NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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G |
Comp |
cartilage oligomeric matrix protein |
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ISO |
pseudoachondroplasia, OMIM:177170, D472Y, C468Y, 1400-1402delTCA ClinVar Annotator: match by term: Multiple epiphyseal dysplasia multiple epiphyseal dysplasia EDM1, OMIM:132400,D342Y |
ClinVar RGD |
PMID:9021009 PMID:9463320 PMID:11565064 PMID:12483304 PMID:14684695 PMID:17570134 PMID:21834907 PMID:21965141 PMID:23956175 PMID:24595329 PMID:25741868 PMID:28051032 PMID:28492532 PMID:32686688 PMID:7670471 PMID:7670472 More...
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RGD:1600702, RGD:1600705 |
NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
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G |
Dll3 |
delta like canonical Notch ligand 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11146471 |
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NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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G |
Dym |
dymeclin |
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ISO |
|
RGD |
PMID:12491225 |
RGD:1598787 |
NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903
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G |
Flna |
filamin A |
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ISO |
Melnick-Needles syndrome;DNA:missense mutations:cds:p.A1188T, p.S1199L (human) associated with Periventricular Nodular Heterotopia;DNA:missense mutation:cds:p.G208R (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12612583 PMID:12612583 PMID:25755106 |
RGD:1598954, RGD:11565455 |
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Flnb |
filamin B |
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ISO |
atelosteogenesis type I,OMIM:108720;DNA:point mutation:exon:A173V DNA:missense, deletion mutations:exons: |
RGD |
PMID:14991055 PMID:16752402 |
RGD:1601168, RGD:12791027 |
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17954590 |
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NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Gdf5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia |
ClinVar |
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NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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G |
Glb1 |
galactosidase, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia |
CTD ClinVar |
PMID:817853 PMID:8922281 PMID:10841810 PMID:19472408 PMID:21497194 PMID:23831247 PMID:25741868 PMID:26646981 PMID:28492532 More...
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NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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G |
Golgb1 |
golgin B1 |
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IAGP |
DNA:frameshift mutation:exon 13: (rat) |
RGD |
PMID:21851869 |
RGD:40902994 |
NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
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G |
Hspg2 |
heparan sulfate proteoglycan 2 |
susceptibility |
ISO |
Schwartz-Jampel syndrome, OMIM:255800;DNA:missense mutations, splice-site mutations ClinVar Annotator: match by term: Chondrodystrophic myotonia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:10545953 PMID:11279527 PMID:25741868 PMID:11101850 |
RGD:1624267 |
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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G |
Itga10 |
integrin subunit alpha 10 |
|
ISO |
Chondrodysplasia, disproportionate short-limbed |
OMIA |
PMID:7081383 PMID:24086591 |
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NCBI chr 2:184,182,869...184,202,172
Ensembl chr 2:184,182,869...184,202,172
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17954590 |
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NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Lifr |
LIF receptor subunit alpha |
|
ISO |
Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, OMIM:151443 |
RGD |
PMID:14740318 |
RGD:1600614 |
NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699
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G |
Matn3 |
matrilin 3 |
|
ISO |
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia |
ClinVar RGD |
PMID:11479597 PMID:14729835 PMID:15459972 PMID:15948199 PMID:16199550 PMID:16287128 PMID:17517694 PMID:18205203 PMID:18518980 PMID:20301302 PMID:20428984 PMID:21922596 PMID:21965141 PMID:25741868 PMID:28492532 PMID:31724101 PMID:11479597 PMID:15121775 More...
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RGD:1599920, RGD:1599919 |
NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
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G |
Mir140 |
microRNA 140 |
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ISS |
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MouseDO |
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NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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G |
Nppc |
natriuretic peptide C |
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ISS |
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MouseDO |
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NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
|
RGD |
PMID:18832389 |
RGD:12859038 |
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Pth1r |
parathyroid hormone 1 receptor |
susceptibility |
ISO |
DNA:missense mutations:exon; metaphyseal chondrodysplasia, OMIM:156400 ClinVar Annotator: match by term: Chondrodysplasia |
ClinVar RGD |
PMID:8703170 |
RGD:1599978 |
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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G |
Slc26a2 |
solute carrier family 26 member 2 |
|
ISO |
DNA:mutation ClinVar Annotator: match by term: Osteochondrodysplasia |
ClinVar RGD |
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:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301524 PMID:20525296 PMID:20592910 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:31880411 PMID:8571951 More...
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RGD:1600010 |
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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G |
Tgfb1 |
transforming growth factor, beta 1 |
susceptibility |
ISO |
Camurati-Engelmann Syndrome, OMIM:131300;DNA:missense mutations: :p.R218H, p.R218C, p.C225R (human) |
RGD |
PMID:10973241 |
RGD:1601550 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfb2 |
transforming growth factor, beta 2 |
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IEP |
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RGD |
PMID:17366323 |
RGD:2302024 |
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
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IMP |
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RGD |
PMID:17366323 |
RGD:2302024 |
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Trappc2 |
trafficking protein particle complex subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr X:28,004,051...28,015,336
Ensembl chr X:27,994,054...28,015,346
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G |
Trps1 |
transcriptional repressor GATA binding 1 |
|
ISO |
trichorhinophalangeal syndrome type I, OMIM:190350 |
RGD |
PMID:10615131 |
RGD:1599670 |
NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18587396 |
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24235232 |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Acheiropodia |
OMIM ClinVar |
PMID:11090342 PMID:33863876 |
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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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 chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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G |
Trip11 |
thyroid hormone receptor interactor 11 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis |
ClinVar |
|
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NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
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G |
Trip11 |
thyroid hormone receptor interactor 11 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
OMIM ClinVar |
PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20089971 PMID:23956106 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600779 PMID:29620724 PMID:29872333 PMID:30728324 PMID:34057271 More...
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NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
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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 DNA:mutations:cds: |
OMIM ClinVar RGD |
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:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:17393463 PMID:17576681 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301524 PMID:20525296 PMID:20592910 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23369989 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 PMID:31880411 PMID:8528239 More...
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RGD:11068488 |
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7695699 PMID:7741714 PMID:7752132 PMID:7757081 PMID:7829510 PMID:8218237 PMID:8325895 PMID:9101290 PMID:10612821 PMID:10982970 PMID:11007540 PMID:12429249 PMID:12544472 PMID:12939326 PMID:15054848 PMID:15895462 PMID:16199547 PMID:17994563 PMID:18276201 PMID:19344236 PMID:20179744 PMID:20301479 PMID:21472893 PMID:21924244 PMID:22496037 PMID:22522174 PMID:23592912 PMID:25735649 PMID:25741868 PMID:26443184 PMID:26747767 PMID:27390512 PMID:28492532 PMID:28559085 PMID:29453956 PMID:30181686 PMID:31755234 More...
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NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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G |
Acan |
aggrecan |
|
ISS |
OMIM:100800 |
MouseDO |
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NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Achondroplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
severity |
ISO |
DNA:missense mutation:cds:p.G380R (human) ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome DNA:mutation:cds:p.K650M(human) |
ClinVar OMIM RGD |
PMID:1908846 PMID:4697848 PMID:7649548 PMID:7670477 PMID:7758520 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8599370 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9842995 PMID:9843059 PMID:9950359 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10395236 PMID:10471491 PMID:10587515 PMID:10607835 PMID:10696568 PMID:10777366 PMID:10861678 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17526800 PMID:17552943 PMID:17875876 PMID:17895900 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:22628360 PMID:23149434 PMID:23165795 PMID:23573386 PMID:24715719 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25741868 PMID:25741874 PMID:25809207 PMID:26380986 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:8078586 PMID:10377013 More...
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RGD:1598937, RGD:11568054 |
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Nppc |
natriuretic peptide C |
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ISS |
OMIM:100800 |
MouseDO |
|
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NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO ISS |
DNA:missense mutation:cds:p.L885R (mouse) OMIM:100800 |
MouseDO RGD |
PMID:15722353 |
RGD:1580771 |
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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Pthlh |
parathyroid hormone-like hormone |
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ISS |
OMIM:100800 |
MouseDO |
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NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Spred2 |
sprouty-related, EVH1 domain containing 2 |
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ISS |
OMIM:100800 |
MouseDO |
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NCBI chr14:94,226,312...94,248,162
Ensembl chr14:94,148,837...94,249,162
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Achondroplastic dwarfism |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:20453470 PMID:21510009 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28492532 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Ihh |
Indian hedgehog signaling molecule |
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ISO |
DNA:point mutations:CDS:p.P46L (137C>T), p.V190A (T569T>C) (human) ClinVar Annotator: match by term: Acrocapitofemoral dysplasia |
ClinVar OMIM RGD |
PMID:12632327 PMID:25741868 PMID:28492532 PMID:12632327 |
RGD:1600033 |
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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Fam20a |
FAM20A, golgi associated secretory pathway pseudokinase |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis |
ClinVar |
PMID:28492532 |
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NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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G |
Pde4d |
phosphodiesterase 4D |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acrodysostosis |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
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G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:25741868 PMID:27825928 PMID:28492532 |
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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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:11200992 PMID:21651393 PMID:22464250 PMID:22464252 PMID:23043190 PMID:23425300 PMID:25741868 PMID:26405036 PMID:27589370 PMID:28051113 PMID:28166811 PMID:28492532 PMID:28804209 PMID:29264456 More...
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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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 chr 2:39,891,163...39,963,779
Ensembl chr 2:39,891,481...39,963,779
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G |
Pde4d |
phosphodiesterase 4D |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance |
OMIM ClinVar |
PMID:11200992 PMID:12121997 PMID:15025561 PMID:21681106 PMID:22464250 PMID:23033274 PMID:24033266 PMID:24203977 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
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Gdf5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia |
ClinVar |
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NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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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 chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:26105076 PMID:28492532 More...
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NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Prkg2 |
protein kinase cGMP-dependent 2 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 4 |
OMIM ClinVar |
PMID:33106379 |
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NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888
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Gdf5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Grebe syndrome DNA:missense mutation:cds:c.1285T>C (p.C429R)(human) DNA:missense mutation:cds:c.527T>C(p.L176P)(human) DNA:insertion mutation:cds:1114insGAGT(human) |
OMIM ClinVar RGD |
PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 PMID:28492532 PMID:18979166 PMID:23812741 PMID:19038017 More...
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RGD:12487346, RGD:12437083, RGD:12437075 |
NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type |
CTD ClinVar |
PMID:29322508 |
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NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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G |
Gdf5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type |
OMIM ClinVar |
PMID:964999 PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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Npr2 |
natriuretic peptide receptor 2 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
OMIM ClinVar |
PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:17576681 PMID:18945719 PMID:22691581 PMID:23065701 PMID:24001744 PMID:24471569 PMID:25703509 PMID:25741868 PMID:25959430 PMID:26075495 PMID:26284228 PMID:27994189 PMID:28492532 PMID:30408610 PMID:31990356 PMID:32506268 PMID:34008892 More...
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NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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Spag8 |
sperm associated antigen 8 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:15146390 PMID:18945719 PMID:22691581 PMID:25741868 PMID:28492532 PMID:30408610 More...
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NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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Adamtsl2 |
ADAMTS-like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia |
OMIM ClinVar |
PMID:1852206 PMID:2005308 PMID:3495735 PMID:3536967 PMID:4750422 PMID:7738200 PMID:7802039 PMID:7870075 PMID:8004112 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:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10633129 PMID:10679954 PMID:10694921 PMID:11068200 PMID:11143906 PMID:11524736 PMID:11700157 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:16220557 PMID:16222657 PMID:16273536 PMID:16333834 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16835936 PMID:16971892 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:18310266 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19353630 PMID:19370756 PMID:19396033 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20200614 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 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: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: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:26026792 PMID:26188975 PMID:26272055 PMID:26332594 PMID:26333736 PMID:26498160 PMID:26621581 PMID:26684006 PMID:26787436 PMID:26875674 PMID:26928463 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27353645 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27930701 PMID:27959697 PMID:28050602 PMID:28098115 PMID:28166811 PMID:28254189 PMID:28301460 PMID:28492532 PMID:28497567 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28973303 PMID:29168297 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29848614 PMID:29907982 PMID:30341550 PMID:30675029 PMID:30739908 PMID:31008308 PMID:31053375 PMID:31098894 PMID:31163209 PMID:31211626 PMID:31227806 PMID:31296287 PMID:31322791 PMID:31506931 PMID:31751304 PMID:32123317 PMID:32679894 PMID:32938213 PMID:34498425 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Smad2 |
SMAD family member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia |
ClinVar |
PMID:25348816 PMID:25741868 PMID:28492532 |
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NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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G |
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 chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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G |
Car9 |
carbonic anhydrase 9 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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G |
Ccdc107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 More...
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NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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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 chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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G |
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 chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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G |
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 chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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G |
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 chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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G |
Cd72 |
Cd72 molecule |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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G |
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 chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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G |
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 chr 5:57,817,835...57,823,171
Ensembl chr 5:57,817,832...57,824,390
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G |
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 chr 5:57,176,840...57,185,492
Ensembl chr 5:57,176,845...57,185,490
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G |
Fam166b |
family with sequence similarity 166, member B |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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G |
Fam205a |
family with sequence similarity 205, member A |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,065,739...57,071,880
Ensembl chr 5:57,065,747...57,071,738
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G |
Fam205c |
family with sequence similarity 205, member C |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,087,305...57,093,191
Ensembl chr 5:57,087,320...57,093,164
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G |
Fam214b |
family with sequence similarity 214, member B |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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G |
Fam221b |
family with sequence similarity 221, member B |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
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G |
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 chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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G |
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 chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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G |
Gba2 |
glucosylceramidase beta 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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G |
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 chr 5:58,170,417...58,200,947
Ensembl chr 5:58,170,425...58,202,272
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G |
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 chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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G |
Hint2 |
histidine triad nucleotide binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
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G |
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 chr 5:57,982,409...57,983,186
Ensembl chr 5:57,982,470...57,982,790
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G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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G |
LOC100360821 |
rCG55159-like |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,199,931...57,203,964
Ensembl chr 5:57,200,000...57,204,070
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G |
Msmp |
microseminoprotein, prostate associated |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
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G |
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 chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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G |
Olr834 |
olfactory receptor 834 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
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G |
Olr840 |
olfactory receptor 840 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
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G |
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 chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
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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 chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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G |
Reck |
reversion-inducing-cysteine-rich protein with kazal motifs |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502
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G |
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 chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
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G |
Rusc2 |
RUN and SH3 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
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G |
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 chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
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G |
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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NCBI chr 5:57,985,569...57,991,972
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G |
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 chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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G |
Stoml2 |
stomatin like 2 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
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G |
Tesk1 |
testis associated actin remodelling kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
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G |
Tln1 |
talin 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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G |
Tmem8b |
transmembrane protein 8B |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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G |
Unc13b |
unc-13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
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G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Ccdc107 |
coiled-coil domain containing 107 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia 1 |
ClinVar |
PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 More...
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NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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G |
Pop1 |
POP1 homolog, ribonuclease P/MRP subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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G |
Pop1 |
POP1 homolog, ribonuclease P/MRP subunit |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia 2 |
OMIM ClinVar |
PMID:21455487 PMID:25741868 PMID:27380734 PMID:28067412 PMID:30408610 |
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NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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G |
Nepro |
nucleolus and neural progenitor protein |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia 3 |
OMIM ClinVar |
PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547 |
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NCBI chr11:55,958,265...55,970,432
Ensembl chr11:55,958,267...55,970,432
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G |
B9d1 |
B9 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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G |
Birc2 |
baculoviral IAP repeat-containing 2 |
|
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 chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
|
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 chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26092869 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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G |
Cep120 |
centrosomal protein 120 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964
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G |
Cep126 |
centrosomal protein 126 |
|
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 chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
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G |
Cfap300 |
cilia and flagella associated protein 300 |
|
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 chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
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G |
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 chr 8:78,984,075...79,042,695
Ensembl chr 8:78,984,258...79,042,691
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G |
Col2a1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:25741868 |
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NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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 chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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G |
Dcun1d5 |
defective in cullin neddylation 1 domain containing 5 |
|
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 chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24759409 PMID:24781753 PMID:25356970 PMID:25492405 PMID:25741868 PMID:25982780 PMID:26826164 PMID:26938784 PMID:27925158 PMID:28492532 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29453417 PMID:29947050 PMID:31413057 PMID:32753734 More...
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Dync2i1 |
dynein 2 intermediate chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:29068549 |
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NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
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G |
Dync2i2 |
dynein 2 intermediate chain 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:19610081 PMID:24183451 PMID:29068549 |
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NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
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G |
Dynlt2b |
dynein light chain Tctex-type 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
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G |
Evc2 |
EvC ciliary complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:28492532 PMID:29068549 More...
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NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11241532 PMID:11529856 PMID:12833394 PMID:15772091 PMID:16841094 PMID:18642369 PMID:25157968 PMID:25606676 PMID:25741868 PMID:26619011 PMID:28492532 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Flvcr1 |
FLVCR 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 chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661
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G |
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 chr 1:95,379,542...95,384,532
Ensembl chr 1:95,379,587...95,384,530
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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 chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Grk2 |
G protein-coupled receptor kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:33200460 |
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NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD 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 More...
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Ift43 |
intraflagellar transport 43 |
|
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 chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
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G |
Ift52 |
intraflagellar transport 52 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
CTD ClinVar |
PMID:27466190 PMID:28492532 PMID:29068549 |
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NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980
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G |
Ift74 |
intraflagellar transport 74 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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G |
Ift80 |
intraflagellar transport 80 |
|
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 More...
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Ift81 |
intraflagellar transport 81 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 |
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NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057
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G |
Ift88 |
intraflagellar transport 88 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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G |
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 chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
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G |
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:29068549 |
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NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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G |
LOC690035 |
similar to Protein KIAA0586 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:25741868 |
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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G |
Matn3 |
matrilin 3 |
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ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
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 chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp10 |
matrix metallopeptidase 10 |
|
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 chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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G |
Mmp12 |
matrix metallopeptidase 12 |
|
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 chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp13 |
matrix metallopeptidase 13 |
|
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 chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp20 |
matrix metallopeptidase 20 |
|
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 chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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G |
Mmp27 |
matrix metallopeptidase 27 |
|
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 chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
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 chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp7 |
matrix metallopeptidase 7 |
|
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 chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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G |
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 chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
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Nek1 |
NIMA-related kinase 1 |
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ISO |
DNA:missense, frameshift, nonsense mutations:cds,splice junction: ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome CTD Direct Evidence: marker/mechanism DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human) |
ClinVar CTD RGD |
PMID:21211617 PMID:22482978 PMID:22499340 PMID:23757202 PMID:28492532 PMID:29068549 PMID:22499340 PMID:21211617 More...
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RGD:11072153, RGD:11069733 |
NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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G |
RGD1304728 |
similar to 4933427D14Rik protein |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 |
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NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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 chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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 chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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 chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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 chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Sltm |
SAFB-like, transcription modulator |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:27666822 |
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NCBI chr 8:71,215,995...71,261,821
Ensembl chr 8:71,216,612...71,261,825
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G |
Smarcad1 |
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` |
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ISS |
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MouseDO |
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NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
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G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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G |
Tmem123 |
transmembrane protein 123 |
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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 chr 8:4,922,098...4,952,228
Ensembl chr 8:4,922,098...4,952,224
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G |
Traf3ip1 |
TRAF3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:28492532 PMID:29068549 |
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NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
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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 chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 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:26068938 PMID:26489029 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:32173348 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's 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 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Wdr35 |
WD repeat domain 35 |
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ISO |
CTD Direct Evidence: marker/mechanism 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 |
CTD 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 chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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G |
Yap1 |
Yes1 associated transcriptional regulator |
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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 chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:26077881 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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 chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:26077881 PMID:28492532 PMID:32815859 |
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NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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 chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Ift140 |
intraflagellar transport 140 |
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ISS |
OMIM:208500 |
MouseDO |
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:29068549 |
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NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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G |
Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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 chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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 chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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 chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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 chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
CTD ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
Wdr19 |
WD repeat domain 19 |
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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 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22486404 PMID:24033266 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 |
OMIM ClinVar |
PMID:11727201 PMID:12673792 PMID:16199547 PMID:17468754 PMID:19610081 PMID:19648123 PMID:20301601 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30767363 More...
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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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-polydactyly syndrome, Verma-Naumoff type | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
OMIM ClinVar |
PMID:19361615 PMID:19442771 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24759409 PMID:25326635 PMID:25356970 PMID:25741868 PMID:25741887 PMID:25741891 PMID:26826164 PMID:26938784 PMID:27925158 PMID:28492532 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29453417 PMID:30655312 PMID:32753734 PMID:33532864 More...
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Dync2i1 |
dynein 2 intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Verma-Naumoff type |
ClinVar |
PMID:29068549 |
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NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
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G |
Dync2i2 |
dynein 2 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Verma-Naumoff type |
ClinVar |
PMID:29068549 |
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NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
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G |
Dynlt2b |
dynein light chain Tctex-type 2B |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
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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 chr 1:84,452,806...84,456,414
Ensembl chr 1:84,452,814...84,456,385
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G |
Ift80 |
intraflagellar transport 80 |
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ISS |
OMIM:613091 |
MouseDO |
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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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 chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
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G |
Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:21211617 PMID:25741868 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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G |
Tmem256 |
transmembrane protein 256 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
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G |
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:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:32173348 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
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:24027800 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:29801666 PMID:30266093 PMID:31837199 PMID:32037395 PMID:32165824 PMID:33532864 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Flnb |
filamin B |
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ISS |
OMIM:108720 | OMIM:108721 | OMIM:256050 |
MouseDO |
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NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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G |
Slc26a2 |
solute carrier family 26 member 2 |
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ISO ISS |
ClinVar Annotator: match by term: Atelosteogenesis OMIM:108720 | OMIM:108721 | OMIM:256050 |
ClinVar MouseDO |
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NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Flnb |
filamin B |
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ISO |
ClinVar Annotator: match by term: Atelosteogenesis type I CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:14991055 PMID:16752402 PMID:22190451 PMID:24624349 PMID:25741868 PMID:28492532 More...
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NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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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: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1 | ClinVar Annotator: match by term: de la Chapelle dysplasia |
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:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301524 PMID:20525296 PMID:20592910 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:31880411 More...
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NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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G |
Flnb |
filamin B |
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ISO |
ClinVar Annotator: match by term: Atelosteogenesis type III CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:14991055 PMID:25741868 PMID:28492532 |
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NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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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 |
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NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
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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 |
ClinVar OMIM RGD |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:26467025 PMID:28492532 PMID:11326272 More...
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RGD:734571 |
NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
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G |
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:28492532 More...
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NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
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G |
Lrp5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 |
OMIM ClinVar |
PMID:1002767 PMID:10434540 PMID:11701785 PMID:11741193 PMID:12015390 PMID:12054167 PMID:12579474 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Clcn7 |
chloride voltage-gated channel 7 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 |
OMIM ClinVar |
PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 PMID:15111300 PMID:17164308 PMID:17576681 PMID:19238435 PMID:19543743 PMID:21527911 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 chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
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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 |
ClinVar OMIM |
PMID:17997709 |
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NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412
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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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Ccdc154 |
coiled-coil domain containing 154 |
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ISS |
OMIM:259700 |
MouseDO |
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NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253
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G |
Tcirg1 |
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 |
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ISO |
DNA:deletions, snps:exons:multiple (human) ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 |
ClinVar OMIM RGD |
PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 PMID:12507890 PMID:12552563 PMID:12566520 PMID:14675409 PMID:15300850 PMID:16199547 PMID:17576681 PMID:18715141 PMID:19448635 PMID:19507210 PMID:20424301 PMID:21042819 PMID:22231430 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:29363653 PMID:29431110 PMID:30431110 PMID:30537558 PMID:30539151 PMID:30898715 PMID:31567691 PMID:31589614 PMID:31949009 PMID:31949762 PMID:10888887 More...
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RGD:1599350 |
NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
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Tnfsf11 |
TNF superfamily member 11 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 |
OMIM ClinVar |
PMID:17632511 PMID:20499338 PMID:21541994 PMID:23762088 PMID:25741868 PMID:28492532 More...
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NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445
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G |
Car2 |
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 chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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G |
Clcn7 |
chloride voltage-gated channel 7 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 |
OMIM ClinVar |
PMID:1516225 PMID:11207362 PMID:11468688 PMID:11741829 PMID:17033731 PMID:23296056 PMID:25741868 PMID:26056022 PMID:28492532 PMID:30229577 PMID:199553639 More...
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NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
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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 |
OMIM ClinVar |
PMID:12627228 PMID:16813530 PMID:28492532 PMID:28612835 |
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NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023
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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 |
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NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412
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G |
Tnfrsf11a |
TNF receptor superfamily member 11A |
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ISO |
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 chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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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:25741868 PMID:28492532 |
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NCBI chr 4:80,612,648...80,677,005
Ensembl chr 4:80,612,669...80,676,996
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G |
Cfap410 |
cilia and flagella associated protein 410 |
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ISO |
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 More...
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NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
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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:26826164 PMID:28492532 PMID:29068549 |
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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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:28492532 PMID:29068549 |
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NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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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 chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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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:29068549 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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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:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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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 chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Ufsp2 |
UFM1-specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type |
OMIM ClinVar |
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28892125 |
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NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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G |
Flnb |
filamin B |
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ISO |
ClinVar Annotator: match by term: Boomerang dysplasia |
OMIM ClinVar |
PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 |
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NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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G |
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 chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
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:28492532 |
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NCBI chr 1:230,454,314...230,539,332
Ensembl chr 1:230,454,426...230,539,331
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISS ISO |
OMIM:113500 | OMIM:271530 | OMIM:271630 | OMIM:613678 ClinVar Annotator: match by term: Brachyolmia | ClinVar Annotator: match by term: Brachyrachia |
MouseDO 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: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:28166811 PMID:28492532 PMID:28898540 PMID:29858556 PMID:30230566 PMID:30373780 More...
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia Type 2 | 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:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 More...
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
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: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:28166811 PMID:28492532 PMID:28898540 PMID:29858556 PMID:30230566 PMID:30373780 More...
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome |
OMIM ClinVar |
PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 PMID:19344874 PMID:25669657 PMID:25741868 PMID:25899461 PMID:28492532 PMID:29625025 PMID:30887145 More...
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Csf1r |
colony stimulating factor 1 receptor |
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ISO |
ClinVar Annotator: match by term: Brain abnormalities, neurodegeneration, and dysosteosclerosis |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30982608 PMID:30982609 |
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NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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G |
Fkbp10 |
FKBP prolyl isomerase 10 |
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ISS ISO |
OMIM:259450 | OMIM:609220 ClinVar Annotator: match by term: Bruck syndrome | ClinVar Annotator: match by term: Osteogenesis imperfecta with congenital joint contractures |
MouseDO ClinVar |
PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 More...
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NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISS |
OMIM:259450 | OMIM:609220 |
MouseDO |
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NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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G |
Fkbp10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 1 |
OMIM ClinVar |
PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:23712425 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 PMID:30715774 More...
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NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 2 |
OMIM ClinVar |
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28116328 PMID:28492532 PMID:29177700 PMID:29178448 PMID:32655337 More...
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NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
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G |
Eln |
elastin |
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ISO |
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RGD |
PMID:1629625 |
RGD:9585749 |
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
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: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS DNA:nonsense mutation:cds:c.2203C>T(human) DNA:transversion mutation:intron: c.1921+1G>T(human) DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human) |
OMIM ClinVar RGD |
PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 PMID:17223882 PMID:19438932 PMID:25741868 PMID:28166811 PMID:28434888 PMID:28492532 PMID:20678097 PMID:21985280 PMID:20083694 PMID:19438932 More...
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RGD:11553844, RGD:11553843, RGD:11553842, RGD:11553840 |
NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
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G |
A4galt |
alpha 1,4-galactosyltransferase (P blood group) |
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ISO |
ClinVar Annotator: match by term: Infantile cortical hyperostosis |
ClinVar |
PMID:20971946 |
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NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
DNA:mutation:exon:3040C>T (human) ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis DNA:missense mutation:exon:c.3040C>T(p.R836C)(human) |
ClinVar OMIM RGD |
PMID:2037280 PMID:2542316 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17309652 PMID:17392686 PMID:18028452 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19550437 PMID:20696291 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22589248 PMID:22753364 PMID:24147872 PMID:24390061 PMID:24668929 PMID:24767406 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26633542 PMID:27044453 PMID:27060301 PMID:27132807 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27549894 PMID:27748872 PMID:28166811 PMID:28378289 PMID:28492532 PMID:28810924 PMID:29499418 PMID:29543232 PMID:29946973 PMID:30692697 PMID:30715774 PMID:31304589 PMID:32166892 PMID:33228694 PMID:33928192 PMID:33939306 PMID:17309652 PMID:15864348 More...
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RGD:5688296, RGD:11667069 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
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:30779713 |
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NCBI chr 2:219,889,809...219,967,704
Ensembl chr 2:219,893,572...219,967,546
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G |
Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: CDL |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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G |
Smc3 |
structural maintenance of chromosomes 3 |
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ISO |
ClinVar Annotator: match by term: CDL |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:252,601,422...252,644,522
Ensembl chr 1:252,601,753...252,644,522
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G |
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: Camptomelic dysplasia |
OMIM ClinVar |
PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:10951468 PMID:11323423 PMID:11371614 PMID:11446414 PMID:12783851 PMID:15300742 PMID:15806394 PMID:19033726 PMID:19449405 PMID:19921652 PMID:21218044 PMID:21373255 PMID:23564514 PMID:24038782 PMID:24451061 PMID:25741868 PMID:25983619 PMID:26633542 PMID:26740947 PMID:28166811 PMID:28492532 PMID:31389106 PMID:32595695 More...
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NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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G |
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:15806394 PMID:25741868 PMID:26633542 PMID:28492532 More...
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NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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G |
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 chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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G |
Mitf |
melanocyte inducing transcription factor |
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ISS |
OMIM:131300 | OMIM:606631 |
MouseDO |
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G |
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:12843182 PMID:15103729 PMID:15326622 PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:19584867 PMID:23846138 PMID:25099136 PMID:25741868 PMID:28492532 PMID:30034812 More...
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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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 |
OMIM ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 More...
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NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
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G |
Ccdc107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, McKusick type |
ClinVar |
PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 More...
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NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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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 More...
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NCBI chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501
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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 chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
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G |
Tgds |
TDP-glucose 4,6-dehydratase |
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ISO |
ClinVar Annotator: match by term: Catel-Manzke syndrome |
OMIM ClinVar |
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 PMID:26366375 More...
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NCBI chr15:95,174,607...95,195,577
Ensembl chr15:95,174,608...95,195,554
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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 chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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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 chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013
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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 chr14:1,184,638...1,216,392
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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 chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
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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 chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131
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G |
Dok7 |
docking protein 7 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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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 chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514
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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 chr14:77,088,178...77,124,395
Ensembl chr14:77,090,723...77,124,395
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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 chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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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 chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
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G |
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 chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398
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G |
Grk4 |
G protein-coupled receptor kinase 4 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693
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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 chr14:76,580,549...76,599,542
Ensembl chr14:76,580,546...76,752,463
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G |
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 chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278
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G |
Htt |
huntingtin |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
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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 chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
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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 chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
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G |
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 chr14:77,357,261...77,390,683
Ensembl chr14:77,357,264...77,390,671
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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 chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377
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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 chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183
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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 chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221
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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 chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411
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G |
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 chr14:76,808,920...76,832,998
Ensembl chr14:76,808,870...76,832,994
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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 chr14:77,296,676...77,300,575
Ensembl chr14:77,296,796...77,300,036
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G |
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 chr14:76,081,318...76,102,454
Ensembl chr14:76,080,793...76,102,453
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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 chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
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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 chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793
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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 chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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G |
Pigg |
phosphatidylinositol glycan anchor biosynthesis, class G |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
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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 chr14:76,579,983...76,752,460
Ensembl chr14:76,580,546...76,752,463
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G |
RGD1560394 |
RGD1560394 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:76,768,145...76,769,774
Ensembl chr14:76,768,146...76,773,575
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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 chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596
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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 |
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NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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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 chr14:949,397...988,377
Ensembl chr14:949,448...987,831
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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 chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566
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G |
Sh3bp2 |
SH3-domain binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar OMIM RGD |
PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:16786512 PMID:17321449 PMID:17576681 PMID:18596838 PMID:21045962 PMID:21794028 PMID:22153076 PMID:22153077 PMID:22795151 PMID:23298620 PMID:24033266 PMID:24382142 PMID:24608212 PMID:24916406 PMID:25144740 PMID:25741868 PMID:26064398 PMID:27272835 PMID:28166811 PMID:28492532 PMID:28644570 PMID:30236129 PMID:11381256 More...
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RGD:1599339 |
NCBI chr14:76,176,097...76,213,331
Ensembl chr14:76,176,101...76,213,251
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G |
Slbp |
stem-loop binding protein |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906
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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 chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
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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 chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132
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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 chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996
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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 chr14:77,051,209...77,065,343
Ensembl chr14:77,051,215...77,065,219
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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 chr14:77,065,391...77,070,871
Ensembl chr14:77,065,841...77,070,865
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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 chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819
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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 chr14:76,228,283...76,246,609
Ensembl chr14:76,228,371...76,275,265
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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 chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903
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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 chr14:76,468,424...76,554,039
Ensembl chr14:76,468,424...76,554,039
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G |
Pth1r |
parathyroid hormone 1 receptor |
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ISO |
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:25741868 PMID:28492532 More...
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NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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Arsl |
arylsulfatase L |
susceptibility |
ISO |
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RGD |
PMID:9409863 |
RGD:1599238 |
NCBI chr 2:119,038,803...119,047,579
Ensembl chr 2:119,038,921...119,046,846
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Ebp |
EBP, cholestenol delta-isomerase |
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ISO |
CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18176751 PMID:10391218 |
RGD:734908 |
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
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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 |
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NCBI chr 5:17,775,684...17,802,570
Ensembl chr 5:17,772,608...17,802,570
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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 chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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Hhat |
hedgehog acyltransferase |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome |
OMIM ClinVar |
PMID:24784881 PMID:30912300 |
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NCBI chr13:104,024,507...104,283,581
Ensembl chr13:104,010,916...104,282,893
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Agt |
angiotensinogen |
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ISO |
ClinVar Annotator: match by term: Large fontanelles |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Cebpb |
CCAAT/enhancer binding protein beta |
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ISS |
OMIM:119600 | OMIM:216330 |
MouseDO |
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NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Rnf146 |
ring finger protein 146 |
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ISS |
OMIM:119600 | OMIM:216330 |
MouseDO |
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NCBI chr 1:28,458,864...28,475,758
Ensembl chr 1:28,458,887...28,475,923
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Runx2 |
RUNX family transcription factor 2 |
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ISO |
DNA:insertion, point mutation:exon:p.W283X (human) ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste | ClinVar Annotator: match by term: Cleidocranial dysplasia, severe, with osteoporosis and scoliosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:11857736 PMID:12081718 PMID:12424590 PMID:14688224 PMID:15629837 PMID:15952089 PMID:17022082 PMID:19515746 PMID:19767586 PMID:20357738 PMID:20648631 PMID:24222232 PMID:24634175 PMID:25741868 PMID:26380986 PMID:27993330 PMID:28166811 PMID:28492532 PMID:31548836 PMID:33987976 PMID:9182765 More...
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RGD:1601649 |
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Supt3h |
SPT3 homolog, SAGA and STAGA complex component |
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ISO |
ClinVar Annotator: match by term: Cleidocranial dysostosis |
ClinVar |
PMID:25741868 PMID:33987976 |
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NCBI chr 9:15,878,296...16,206,768
Ensembl chr 9:15,868,287...16,206,706
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Runx2 |
RUNX family transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, dental anomalies only |
ClinVar |
PMID:10545612 |
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NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Runx2 |
RUNX family transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, with brachydactyly |
ClinVar |
PMID:9182765 |
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NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Lonp1 |
lon peptidase 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: CODAS syndrome |
OMIM ClinVar |
PMID:1887855 PMID:5574826 PMID:25574826 PMID:25741868 PMID:25741869 PMID:25808063 PMID:27878435 PMID:28492532 More...
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NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771
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P4hb |
prolyl 4-hydroxylase subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cole-Carpenter syndrome |
CTD ClinVar |
PMID:25741868 |
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NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
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Sec24d |
SEC24 homolog D, COPII coat complex component |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587
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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 |
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NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
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Sec24d |
SEC24 homolog D, COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 |
OMIM ClinVar |
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 PMID:30462379 More...
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NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Cartilage collagen |
ClinVar |
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NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Mitf |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
OMIM ClinVar |
PMID:27889061 PMID:30311386 PMID:34599368 |
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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Acp5 |
acid phosphatase 5, tartrate resistant |
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ISO |
ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation |
OMIM ClinVar |
PMID:2363422 PMID:9536098 PMID:12786759 PMID:13524805 PMID:16470600 PMID:17576681 PMID:18924170 PMID:21217752 PMID:21217755 PMID:24033266 PMID:25741868 PMID:26346816 PMID:26789720 PMID:26951490 PMID:27125509 PMID:27718324 PMID:28492532 PMID:31286717 More...
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NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929
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Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 |
OMIM ClinVar |
PMID:15728585 PMID:16407265 PMID:17206620 PMID:23692737 PMID:25944380 PMID:28492532 More...
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 |
OMIM ClinVar |
PMID:10982177 PMID:11288717 PMID:23692737 PMID:25741868 PMID:25944380 PMID:28492532 More...
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Ankh |
ANKH inorganic pyrophosphate transport regulator |
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ISS |
OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 |
MouseDO |
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NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
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Tmem53 |
transmembrane protein 53 |
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ISO |
ClinVar Annotator: match by term: TMEM53-related craniotubular dysplasia |
ClinVar OMIM |
PMID:25741868 PMID:33824347 |
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NCBI chr 5:130,721,780...130,737,692
Ensembl chr 5:130,721,659...130,737,692
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
DNA:missense mutation:cds:p.R275C (c.823C>T) (human) ClinVar Annotator: match by term: Czech dysplasia, metatarsal type | ClinVar Annotator: match by term: Pseudorheumatoid dysplasia progressive, with hypoplastic toes |
ClinVar OMIM RGD |
PMID:7695699 PMID:8218237 PMID:8244341 PMID:10612821 PMID:17726487 PMID:19344236 PMID:19764028 PMID:22791362 PMID:25741868 PMID:25967556 PMID:26443184 PMID:26626311 PMID:28492532 PMID:32071555 PMID:18553548 More...
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RGD:8657344 |
NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Cant1 |
calcium activated nucleotidase 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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Xylt1 |
xylosyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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Abcc1 |
ATP binding cassette subfamily C member 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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Abcc6 |
ATP binding cassette subfamily C member 6 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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Cant1 |
calcium activated nucleotidase 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 PMID:21037275 PMID:21412251 PMID:21654728 PMID:22539336 PMID:25741868 PMID:28492532 PMID:28742282 PMID:31988067 PMID:34270679 More...
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NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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Cep20 |
centrosomal protein 20 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837
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Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Nde1 |
nudE neurodevelopment protein 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Xylt1 |
xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:9536098 PMID:16571645 PMID:17576681 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28462984 PMID:28492532 More...
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NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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Xylt1 |
xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 2 |
OMIM ClinVar |
PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 PMID:28462984 PMID:28492532 PMID:30554721 More...
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NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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Mtap |
methylthioadenosine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY |
OMIM ClinVar |
PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 PMID:16419137 PMID:22464254 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:103,873,020...103,939,406
Ensembl chr 5:103,873,020...103,939,406
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Slc26a2 |
solute carrier family 26 member 2 |
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ISO |
ClinVar Annotator: match by term: Diastrophic dwarfism | ClinVar Annotator: match by term: Diastrophic dysplasia DNA:deletion, insertion, missense mutations:promoter, cds:c.¿¿¿26 + 2T > C, p.R279W, 1045¿¿¿1047delGTT(human) |
OMIM ClinVar RGD |
PMID:702237 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723083 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10466420 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:12220459 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301524 PMID:20525296 PMID:20592910 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23369989 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:26752647 PMID:27065010 PMID:28492532 PMID:29024831 PMID:31880411 PMID:10482955 PMID:15703192 More...
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RGD:13208932, RGD:13208867 |
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Slc26a2 |
solute carrier family 26 member 2 |
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ISO |
ClinVar Annotator: match by term: Diastrophic dysplasia, broad bone-platyspondylic variant |
ClinVar |
PMID:702237 PMID:8723083 PMID:10466420 PMID:12220459 |
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NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Dym |
dymeclin |
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ISO |
ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome |
OMIM ClinVar |
PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:18996921 PMID:22090722 PMID:25741868 PMID:28492532 More...
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NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903
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Slc29a3 |
solute carrier family 29 member 3 |
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ISO |
ClinVar Annotator: match by term: Dysosteosclerosis |
ClinVar |
PMID:28492532 PMID:33837634 |
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NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 DNA:mutation:splicing site: |
OMIM ClinVar RGD |
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:29077208 PMID:16333836 More...
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RGD:12791265 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Slc39a13 |
solute carrier family 39 member 13 |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like DNA:deletion:cds:c.483_491del9 (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 PMID:25007800 PMID:25741868 PMID:28492532 PMID:18513683 More...
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RGD:11553863 |
NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
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Pth1r |
parathyroid hormone 1 receptor |
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ISO |
DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human) ClinVar Annotator: match by term: Eiken syndrome |
ClinVar OMIM RGD |
PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 PMID:15525660 More...
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RGD:12910707 |
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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Add1 |
adducin 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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Adra2c |
adrenoceptor alpha 2C |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,471,143...75,472,846
Ensembl chr14:75,471,143...75,472,846
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Ccdc39 |
coiled-coil domain containing 39 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:23255504 PMID:24498942 PMID:25741868 PMID:28492532 PMID:31980526 |
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NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
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Cytl1 |
cytokine like 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:73,053,876...73,058,886
Ensembl chr14:73,053,877...73,058,886
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Dok7 |
docking protein 7 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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Evc |
EvC ciliary complex subunit 1 |
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ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar OMIM RGD |
PMID:7628126 PMID:7635486 PMID:9066272 PMID:9536098 PMID:10700162 PMID:10700184 PMID:14217223 PMID:16199547 PMID:17024374 PMID:17576681 PMID:18454448 PMID:18947413 PMID:19251731 PMID:19744229 PMID:19810119 PMID:19876929 PMID:20184732 PMID:22190900 PMID:23220543 PMID:23924873 PMID:24431330 PMID:25174843 PMID:25492405 PMID:25640679 PMID:25741868 PMID:26621368 PMID:26625674 PMID:26748586 PMID:28492532 PMID:28854412 PMID:29068549 PMID:29229899 PMID:29321360 PMID:30805457 PMID:31028937 PMID:31319225 PMID:31338997 PMID:10700184 More...
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RGD:1302823 |
NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
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Evc2 |
EvC ciliary complex subunit 2 |
susceptibility |
ISO |
DNA:mutations ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar OMIM RGD |
PMID:7218275 PMID:9536098 PMID:12468274 PMID:12571802 PMID:16199547 PMID:16404586 PMID:17024374 PMID:17576681 PMID:18454448 PMID:19251731 PMID:19810119 PMID:19876929 PMID:20184732 PMID:21199751 PMID:21815252 PMID:22190900 PMID:22406498 PMID:23026208 PMID:23220543 PMID:24033266 PMID:25047945 PMID:25174843 PMID:25326635 PMID:25500235 PMID:25525159 PMID:25640679 PMID:25741868 PMID:26064711 PMID:26580685 PMID:26748586 PMID:26818569 PMID:27168972 PMID:27280866 PMID:28492532 PMID:29068549 PMID:29456477 PMID:32369273 PMID:12571802 More...
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RGD:1600212 |
NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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Fam193a |
family with sequence similarity 193, member A |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514
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Grk4 |
G protein-coupled receptor kinase 4 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693
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Haus3 |
HAUS augmin-like complex, subunit 3 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,580,549...76,599,542
Ensembl chr14:76,580,546...76,752,463
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Hgfac |
HGF activator |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278
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Htt |
huntingtin |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
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Lrpap1 |
LDL receptor related protein associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414
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Lyar |
Ly1 antibody reactive |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,576,878...72,590,854
Ensembl chr14:72,576,879...72,590,612
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Mfsd10 |
major facilitator superfamily domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377
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Msantd1 |
Myb/SANT DNA binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183
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Msx1 |
msh homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
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Mxd4 |
Max dimerization protein 4 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221
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Nop14 |
NOP14 nucleolar protein |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,081,318...76,102,454
Ensembl chr14:76,080,793...76,102,453
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Nsg1 |
neuronal vesicle trafficking associated 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,648,771...72,670,521
Ensembl chr14:72,648,741...72,670,514
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Otop1 |
otopetrin 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,505,036...72,532,497
Ensembl chr14:72,503,592...72,532,497
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Poln |
DNA polymerase nu |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,579,983...76,752,460
Ensembl chr14:76,580,546...76,752,463
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Rgs12 |
regulator of G-protein signaling 12 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596
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Rnf4 |
ring finger protein 4 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566
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Sh3bp2 |
SH3-domain binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,176,097...76,213,331
Ensembl chr14:76,176,101...76,213,251
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Stk32b |
serine/threonine kinase 32B |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:73,077,944...73,336,128
Ensembl chr14:73,078,061...73,336,458
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Stx18 |
syntaxin 18 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,670,683...72,761,423
Ensembl chr14:72,670,411...72,761,464
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Tmem128 |
transmembrane protein 128 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,539,530...72,548,623
Ensembl chr14:72,539,532...72,548,550
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Tnip2 |
TNFAIP3 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,228,283...76,246,609
Ensembl chr14:76,228,371...76,275,265
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Traf3ip1 |
TRAF3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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Wdr35 |
WD repeat domain 35 |
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ISO |
DNA:snps:introns, cds:multiple (human) ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar RGD |
PMID:25741868 PMID:25908617 |
RGD:11073852 |
NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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Zbtb49 |
zinc finger and BTB domain containing 49 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,590,675...72,612,404
Ensembl chr14:72,590,708...72,612,404
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Zfyve28 |
zinc finger FYVE-type containing 28 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,468,424...76,554,039
Ensembl chr14:76,468,424...76,554,039
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Col11a1 |
collagen type XI alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrochondrogenesis |
CTD ClinVar |
PMID:21035103 PMID:28492532 |
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NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Col11a1 |
collagen type XI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 1 |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:9536098 PMID:10486316 PMID:10612821 PMID:15922184 PMID:17576681 PMID:17999364 PMID:19344236 PMID:23967202 PMID:25240749 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30245029 More...
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NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Fibrochondrogenesis 2 |
OMIM ClinVar |
PMID:9536098 PMID:15922184 PMID:17576681 PMID:22246659 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:26467025 PMID:26691295 PMID:28492532 PMID:30311386 More...
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NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7739708 |
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NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Trim37 |
tripartite motif-containing 37 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14757854 |
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NCBI chr10:71,943,384...72,075,567
Ensembl chr10:71,943,375...72,075,558
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Gdf5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 2B DNA:missense mutation:cds:T1322C (p.L441P)(human) |
OMIM ClinVar RGD |
PMID:12121354 PMID:16014698 PMID:16127465 PMID:16222676 PMID:17384641 PMID:18629880 PMID:25741868 PMID:28492532 PMID:12121354 More...
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