|
G |
Polr3gl |
RNA polymerase III subunit GL |
|
ISO |
ClinVar Annotator: match by term: Hyperostosis |
ClinVar |
PMID:25741868 PMID:31089205 |
|
NCBI chr 2:184,111,570...184,129,200
|
|
G |
Pth |
parathyroid hormone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25289773 |
|
NCBI chr 1:176,942,901...176,946,034
|
|
|
G |
A4galt |
alpha 1,4-galactosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Infantile cortical hyperostosis |
ClinVar |
PMID:20971946 PMID:28492532 |
|
NCBI chr 7:114,368,525...114,392,872
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
DNA:mutation:exon:3040C>T (human) ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:c.3040C>T(p.R836C)(human) |
ClinVar CTD OMIM RGD |
PMID:1770532 PMID:2037280 PMID:2542316 PMID:2794057 PMID:2894346 PMID:7691343 PMID:7695699 PMID:7881420 PMID:7942841 PMID:8079666 PMID:8100856 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9101304 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18798308 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:19637253 PMID:20696291 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23443412 PMID:23587214 PMID:23692737 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24390061 PMID:24486247 PMID:24668929 PMID:24767406 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26627451 PMID:26633542 PMID:26712438 PMID:27011056 PMID:27044453 PMID:27060301 PMID:27132807 PMID:27146342 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28102596 PMID:28116328 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29150909 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30665703 PMID:30692697 PMID:30715774 PMID:30886339 PMID:31304589 PMID:31447884 PMID:31584903 PMID:32166892 PMID:33110269 PMID:33228694 PMID:33772059 PMID:33928192 PMID:33939306 PMID:33942288 PMID:34902613 PMID:36709916 PMID:17309652 PMID:15864348 More...
|
RGD:5688296, RGD:11667069 |
NCBI chr10:80,380,458...80,397,461
|
|
|
G |
Myl3 |
myosin light chain 3 |
|
ISO |
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
ClinVar |
|
|
NCBI chr 8:119,617,077...119,623,215
|
|
G |
Pth1r |
parathyroid hormone 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
OMIM CTD ClinVar |
PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 PMID:10523019 PMID:17164305 PMID:17576681 PMID:18559376 PMID:21404329 PMID:23771181 PMID:25741868 PMID:28492532 PMID:31986066 More...
|
|
NCBI chr 8:119,572,295...119,597,405
|
|
|
G |
Slc29a1 |
solute carrier family 29 member 1 |
|
ISS |
OMIM:106400 |
MouseDO |
|
|
NCBI chr 9:22,897,099...22,911,640
|
|
|
G |
Cox4i2 |
cytochrome c oxidase subunit 4i2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome DNA:mutation:cds:c.412G>A (p.E138K)(human) |
OMIM CTD ClinVar RGD |
PMID:19268275 PMID:25741868 PMID:28492532 PMID:19268275 |
RGD:11344905 |
NCBI chr 3:141,228,443...141,239,337
|
|
|
G |
Ext1 |
exostosin glycosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Exostoses |
ClinVar |
PMID:10679937 PMID:11391482 PMID:16199547 PMID:18165274 PMID:19810120 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 7:86,265,651...86,544,488
|
|
G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Exostosis |
ClinVar |
PMID:25741868 |
|
NCBI chr13:29,946,882...30,163,589
|
|
|
G |
Aard |
alanine and arginine rich domain containing protein |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:85,254,322...85,259,163
|
|
G |
Ccn3 |
cellular communication network factor 3 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:87,983,788...87,990,810
|
|
G |
Col14a1 |
collagen type XIV alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:88,611,827...88,826,939
|
|
G |
Colec10 |
collectin subfamily member 10 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:87,634,686...87,695,465
|
|
G |
Deptor |
DEP domain containing MTOR-interacting protein |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:88,404,745...88,574,065
|
|
G |
Dscc1 |
DNA replication and sister chromatid cohesion 1 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:88,372,349...88,390,815
|
|
G |
Eif3h |
eukaryotic translation initiation factor 3, subunit H |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:84,980,891...85,064,284
|
|
G |
Enpp2 |
ectonucleotide pyrophosphatase/phosphodiesterase 2 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:88,092,140...88,214,758
|
|
G |
Ext1 |
exostosin glycosyltransferase 1 |
|
ISO ISS |
DNA:frameshift mutations, missense mutation:cds:multiple (human) ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis OMIM:133700 | OMIM:133701 | OMIM:600209 DNA:missense mutation:cds:p.Y271H (human) DNA:frameshift mutation:cds:p.S442IfsX1 (human) DNA:frameshift mutation:cds:p.K218fsX247 (human) DNA:nonsense mutation:cds:p.Y634X (human) DNA:missense mutation, frameshift mutation:cds:p.R340L, p.K177KfsX15 (human) DNA:deletion:cds:p.V545_E574del (human) CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 PMID:9463333 PMID:9521425 PMID:9536098 PMID:9620772 PMID:10480354 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11170095 PMID:11342960 PMID:11391482 PMID:11432960 PMID:11668521 PMID:12032595 PMID:12239711 PMID:12490068 PMID:15221792 PMID:15253765 PMID:15586175 PMID:16088908 PMID:16199547 PMID:16283885 PMID:16638657 PMID:16879194 PMID:17041877 PMID:17301954 PMID:17576681 PMID:17589361 PMID:18165274 PMID:18330718 PMID:18373409 PMID:18452536 PMID:18976157 PMID:19344451 PMID:19810120 PMID:19819120 PMID:19839753 PMID:20025490 PMID:20080592 PMID:20418910 PMID:21499719 PMID:21520333 PMID:21703028 PMID:22258776 PMID:22382802 PMID:22820392 PMID:22913777 PMID:23262345 PMID:23439489 PMID:23629877 PMID:24120389 PMID:24496678 PMID:24532482 PMID:24728327 PMID:25230886 PMID:25468659 PMID:25525159 PMID:25541963 PMID:25640679 PMID:25727835 PMID:25741868 PMID:26239617 PMID:26515642 PMID:26622573 PMID:26690531 PMID:26839764 PMID:26961984 PMID:28492532 PMID:28600779 PMID:28604967 PMID:28690282 PMID:29126381 PMID:29529714 PMID:29620724 PMID:29989442 PMID:30334991 PMID:30806661 PMID:31096510 PMID:31400121 PMID:33632255 PMID:33726816 PMID:36247276 PMID:8981950 PMID:17767039 PMID:17767039 PMID:25421355 PMID:12490068 PMID:24297320 PMID:18330718 PMID:26839764 More...
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RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227 |
NCBI chr 7:86,265,651...86,544,488
|
|
G |
Ext2 |
exostosin glycosyltransferase 2 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:133700 | OMIM:133701 | OMIM:600209 ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas |
CTD MouseDO ClinVar |
PMID:9536098 PMID:17576681 PMID:23439489 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:100,120,776...100,253,424
|
|
G |
Mal2 |
mal, T-cell differentiation protein 2 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:87,790,239...87,823,219
|
|
G |
Med30 |
mediator complex subunit 30 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:85,894,638...85,916,373
|
|
G |
Mrpl13 |
mitochondrial ribosomal protein L13 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:88,841,265...88,862,821
|
|
G |
Mtbp |
MDM2 binding protein |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:88,862,939...88,945,491
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21533187 |
|
NCBI chr12:41,026,079...41,085,577
|
|
G |
Rad21 |
RAD21 cohesin complex component |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:85,177,715...85,204,657
|
|
G |
Samd12 |
sterile alpha motif domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:86,658,709...86,953,879
|
|
G |
Slc30a8 |
solute carrier family 30 member 8 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:85,481,864...85,517,255
|
|
G |
Sntb1 |
syntrophin, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:88,950,642...89,219,017
|
|
G |
Taf2 |
TATA-box binding protein associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:88,312,374...88,369,399
|
|
G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 |
|
NCBI chr 7:87,456,318...87,484,324
|
|
G |
Trps1 |
transcriptional repressor GATA binding 1 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:83,806,121...84,032,609
|
|
G |
Utp23 |
UTP23, small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:85,074,713...85,084,766
|
|
|
G |
Slc39a14 |
solute carrier family 39 member 14 |
|
ISO |
ClinVar Annotator: match by term: Hyperostosis cranialis interna |
OMIM ClinVar |
PMID:2300107 PMID:25741868 PMID:28492532 PMID:28541650 PMID:29621230 PMID:29685658 More...
|
|
NCBI chr15:51,786,517...51,833,260
|
|
|
G |
Anxa11 |
annexin A11 |
|
ISO |
ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 PMID:34048612 More...
|
|
NCBI chr16:1,419,627...1,464,590
|
|
|
G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 |
OMIM ClinVar |
PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17763460 PMID:18341608 PMID:18845250 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:20957154 PMID:21145000 PMID:21320982 PMID:21387114 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23029473 PMID:23056506 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:26105173 PMID:26467025 PMID:26549226 PMID:26555887 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28542158 PMID:28692196 PMID:29770363 PMID:30005904 PMID:30279455 PMID:30293881 PMID:31687228 PMID:31848255 PMID:31862442 PMID:32317127 PMID:32528171 PMID:33144514 PMID:34573259 PMID:36644447 PMID:36980948 PMID:37588275 More...
|
|
NCBI chr 5:62,005,984...62,025,387
|
|
|
G |
Hnrnpa2b1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
|
ISO |
ClinVar Annotator: match by term: HNRNPA2B1-related condition | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2 |
OMIM ClinVar |
PMID:9536098 PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 PMID:25741868 PMID:27990297 PMID:28389692 PMID:28492532 PMID:29358076 PMID:35484142 More...
|
|
NCBI chr 4:81,867,354...81,875,886
|
|
|
G |
Hnrnpa1 |
heterogeneous nuclear ribonucleoprotein A1 |
|
ISO |
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 |
OMIM ClinVar |
PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 |
|
NCBI chr 7:136,253,633...136,260,085
|
|
|
G |
Egf |
epidermal growth factor |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:24119107 |
RGD:10059681 |
NCBI chr 2:220,893,660...220,976,331
|
|
G |
Hnrnpa1 |
heterogeneous nuclear ribonucleoprotein A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
CTD ClinVar |
PMID:23455423 PMID:25741868 |
|
NCBI chr 7:136,253,633...136,260,085
|
|
G |
Hnrnpa2b1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
|
ISO |
DNA:missense mutation:cds:p.D290V (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23455423 |
RGD:10395280 |
NCBI chr 4:81,867,354...81,875,886
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:24119107 |
RGD:10059681 |
NCBI chr20:3,626,685...3,629,303
|
|
G |
Vcp |
valosin-containing protein |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia |
CTD ClinVar MouseDO |
PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17576681 PMID:17763460 PMID:18341608 PMID:18845250 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:20957154 PMID:21145000 PMID:21320982 PMID:21387114 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23029473 PMID:23056506 PMID:23152587 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:25884947 PMID:26105173 PMID:26467025 PMID:26549226 PMID:26555887 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28430856 PMID:28492532 PMID:28542158 PMID:28692196 PMID:29754758 PMID:29770363 PMID:30005904 PMID:30270202 PMID:30279455 PMID:30293881 PMID:31687228 PMID:31848255 PMID:31862442 PMID:32028661 PMID:32317127 PMID:32528171 PMID:33144514 PMID:34573259 PMID:35197922 PMID:35741724 PMID:36644447 PMID:36980948 PMID:37091525 PMID:37588275 More...
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|
NCBI chr 5:62,005,984...62,025,387
|
|
|
G |
B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome |
ClinVar |
PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 PMID:25741868 PMID:27666369 More...
|
|
NCBI chr17:51,334,921...51,377,469
|
|
G |
Tbce |
tubulin folding cofactor E |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1 |
OMIM CTD ClinVar |
PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 PMID:16199547 PMID:20152369 PMID:25097779 PMID:25741868 PMID:26231322 PMID:26336027 PMID:27666369 PMID:28492532 PMID:30080992 PMID:30638765 PMID:33652732 PMID:34134906 PMID:34356170 PMID:35432193 More...
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|
NCBI chr17:51,290,143...51,336,090
|
|
|
G |
Fam111a |
FAM111 trypsin like peptidase A |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome | ClinVar Annotator: match by term: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia |
OMIM CTD ClinVar |
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 PMID:28492532 PMID:29073591 PMID:32996714 More...
|
|
NCBI chr 1:209,640,865...209,656,551
|
|
G |
Tbce |
tubulin folding cofactor E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12389028 |
|
NCBI chr17:51,290,143...51,336,090
|
|
|
G |
Hspg2 |
heparan sulfate proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Lethal Kniest-like syndrome |
ClinVar |
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29620724 PMID:29901129 PMID:30362252 PMID:31127727 PMID:34244600 PMID:34906502 PMID:35982159 More...
|
|
NCBI chr 5:154,960,818...155,061,971
|
|
G |
Ldlrad2 |
low density lipoprotein receptor class A domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Lethal Kniest-like syndrome |
ClinVar |
PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 5:155,062,172...155,070,752
|
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Metachondromatosis CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 PMID:11992261 PMID:12058348 PMID:12161469 PMID:12161596 PMID:12325025 PMID:12529711 PMID:12634870 PMID:12717436 PMID:12739139 PMID:12826400 PMID:12900909 PMID:12960218 PMID:13908956 PMID:14634749 PMID:14644997 PMID:14676626 PMID:14961557 PMID:14974085 PMID:14982869 PMID:15001945 PMID:15009076 PMID:15121796 PMID:15240615 PMID:15248152 PMID:15273746 PMID:15385933 PMID:15389709 PMID:15520399 PMID:15539800 PMID:15604238 PMID:15689434 PMID:15710330 PMID:15712196 PMID:15723289 PMID:15725481 PMID:15761018 PMID:15834506 PMID:15842656 PMID:15889278 PMID:15928039 PMID:15929108 PMID:15940693 PMID:15948193 PMID:15956085 PMID:15985475 PMID:15987685 PMID:15996221 PMID:16053901 PMID:16115145 PMID:16124853 PMID:16166557 PMID:16263833 PMID:16338218 PMID:16358218 PMID:16369799 PMID:16377799 PMID:16399795 PMID:16461457 PMID:16488201 PMID:16498234 PMID:16518851 PMID:16523510 PMID:16533526 PMID:16631468 PMID:16638574 PMID:16643459 PMID:16679933 PMID:16733669 PMID:16804314 PMID:16830086 PMID:16892325 PMID:16924159 PMID:16987887 PMID:16990350 PMID:17020470 PMID:17052965 PMID:17143285 PMID:17177198 PMID:17222357 PMID:17227708 PMID:17339163 PMID:17361219 PMID:17497712 PMID:17515436 PMID:17546245 PMID:17576681 PMID:17641779 PMID:17661820 PMID:17875892 PMID:17910045 PMID:17935252 PMID:17972951 PMID:18080325 PMID:18241070 PMID:18253957 PMID:18331608 PMID:18372317 PMID:18373317 PMID:18378677 PMID:18454468 PMID:18470943 PMID:18562489 PMID:18678287 PMID:18758896 PMID:18759865 PMID:18849586 PMID:18854871 PMID:19008228 PMID:19017799 PMID:19020799 PMID:19047918 PMID:19054014 PMID:19061217 PMID:19063751 PMID:19077116 PMID:19120036 PMID:19125092 PMID:19133693 PMID:19174044 PMID:19179468 PMID:19251646 PMID:19260062 PMID:19352411 PMID:19449407 PMID:19509418 PMID:19568997 PMID:19621452 PMID:19706403 PMID:19725129 PMID:19737548 PMID:19768645 PMID:19795160 PMID:19825837 PMID:19835954 PMID:19864201 PMID:20030748 PMID:20186801 PMID:20237506 PMID:20301303 PMID:20301557 PMID:20308328 PMID:20383758 PMID:20493809 PMID:20535210 PMID:20543023 PMID:20577567 PMID:20578946 PMID:20651068 PMID:20718194 PMID:20883402 PMID:20954246 PMID:20979190 PMID:21106241 PMID:21204800 PMID:21321969 PMID:21339643 PMID:21340158 PMID:21365175 PMID:21365683 PMID:21396583 PMID:21407260 PMID:21526175 PMID:21533187 PMID:21548061 PMID:21567923 PMID:21590266 PMID:21747628 PMID:21784453 PMID:21901340 PMID:21910226 PMID:21910245 PMID:21934682 PMID:22190897 PMID:22315187 PMID:22371576 PMID:22411627 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22551697 PMID:22555271 PMID:22585553 PMID:22681964 PMID:22711529 PMID:22781091 PMID:22822385 PMID:22847776 PMID:22848035 PMID:22923420 PMID:23297836 PMID:23317994 PMID:23321623 PMID:23334668 PMID:23446178 PMID:23457302 PMID:23513489 PMID:23584145 PMID:23624134 PMID:23673659 PMID:23726368 PMID:23756559 PMID:23771920 PMID:23813970 PMID:23832011 PMID:23996481 PMID:24030381 PMID:24033266 PMID:24037001 PMID:24039098 PMID:24072241 PMID:24150203 PMID:24183200 PMID:24219368 PMID:24401936 PMID:24451042 PMID:24458522 PMID:24628801 PMID:24718990 PMID:24728327 PMID:24754368 PMID:24767283 PMID:24775816 PMID:24803665 PMID:24820750 PMID:24891296 PMID:24896146 PMID:24935154 PMID:25097206 PMID:25156961 PMID:25231023 PMID:25326637 PMID:25337068 PMID:25383899 PMID:25395418 PMID:25425531 PMID:25500235 PMID:25533962 PMID:25544017 PMID:25595571 PMID:25612910 PMID:25722345 PMID:25731833 PMID:25741868 PMID:25741869 PMID:25742478 PMID:25862627 PMID:25884655 PMID:25912702 PMID:25914815 PMID:25917897 PMID:26084119 PMID:26206283 PMID:26242988 PMID:26286251 PMID:26337637 PMID:26372199 PMID:26456833 PMID:26467025 PMID:26495027 PMID:26556299 PMID:26607044 PMID:26633542 PMID:26645620 PMID:26673822 PMID:26785492 PMID:26817465 PMID:26822237 PMID:26918529 PMID:27030275 PMID:27038324 PMID:27069254 PMID:27104176 PMID:27117572 PMID:27149842 PMID:27153395 PMID:27193571 PMID:27238887 PMID:27276561 PMID:27353043 PMID:27460089 PMID:27484170 PMID:27521173 PMID:27562378 PMID:27626068 PMID:27659786 PMID:27884971 PMID:28051113 PMID:28074573 PMID:28135719 PMID:28191889 PMID:28363362 PMID:28483241 PMID:28492532 PMID:28628100 PMID:28650561 PMID:28681392 PMID:28748642 PMID:28911804 PMID:28921562 PMID:28957739 PMID:28991257 PMID:29038591 PMID:29057136 PMID:29146883 PMID:29212898 PMID:29214238 PMID:29263817 PMID:29276006 PMID:29346770 PMID:29356064 PMID:29493581 PMID:29517769 PMID:29555671 PMID:29620724 PMID:29693080 PMID:29703613 PMID:29848529 PMID:29907801 PMID:29988639 PMID:30025578 PMID:30029678 PMID:30050098 PMID:30055033 PMID:30287924 PMID:30294303 PMID:30311386 PMID:30325180 PMID:30355600 PMID:30410095 PMID:30417923 PMID:30455982 PMID:30515541 PMID:30541462 PMID:30544257 PMID:30602027 PMID:30604644 PMID:30692697 PMID:30693642 PMID:30732632 PMID:30784236 PMID:30896080 PMID:31040167 PMID:31064749 PMID:31164752 PMID:31219622 PMID:31370276 PMID:31560489 PMID:31564432 PMID:31573083 PMID:31637070 PMID:31827275 PMID:31941532 PMID:32059087 PMID:32164556 PMID:32233106 PMID:32368696 PMID:32371413 PMID:32410215 PMID:32581362 PMID:32719394 PMID:32737134 PMID:32746448 PMID:32824488 PMID:32860008 PMID:32901917 PMID:32963807 PMID:33091040 PMID:33318624 PMID:33568805 PMID:33726816 PMID:33811550 PMID:34006472 PMID:34008892 PMID:34143244 PMID:34194850 PMID:34356170 PMID:34411415 PMID:34782754 PMID:34974531 PMID:35418823 PMID:35858754 PMID:35885957 PMID:35904599 PMID:35979676 PMID:36135330 PMID:36474027 PMID:36567979 PMID:36939041 PMID:37019085 PMID:37493574 PMID:37525886 PMID:37568403 PMID:37605180 PMID:37987971 More...
|
|
NCBI chr12:41,026,079...41,085,577
|
|
G |
Rpl6 |
ribosomal protein L6 |
|
ISO |
ClinVar Annotator: match by term: Metachondromatosis |
ClinVar |
|
|
NCBI chr12:41,008,142...41,012,756
|
|
|
G |
Ext1 |
exostosin glycosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I |
OMIM ClinVar |
PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 PMID:9620772 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11170095 PMID:11391482 PMID:11432960 PMID:15253765 PMID:15586175 PMID:16088908 PMID:16199547 PMID:16283885 PMID:17041877 PMID:17301954 PMID:18165274 PMID:18330718 PMID:19810120 PMID:20418910 PMID:21039224 PMID:22258776 PMID:23262345 PMID:23439489 PMID:24532482 PMID:24728327 PMID:25230886 PMID:25468659 PMID:25741868 PMID:26239617 PMID:26515642 PMID:26690531 PMID:26961984 PMID:28492532 PMID:28600779 PMID:29126381 PMID:29529714 PMID:30334991 PMID:30806661 PMID:33726816 PMID:37352859 More...
|
|
NCBI chr 7:86,265,651...86,544,488
|
|
G |
Ext2 |
exostosin glycosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I |
ClinVar |
PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:100,120,776...100,253,424
|
|
|
G |
Ext2 |
exostosin glycosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 |
OMIM ClinVar |
PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 PMID:10671060 PMID:10679937 PMID:10713884 PMID:10750558 PMID:11169766 PMID:11170095 PMID:11432960 PMID:11668521 PMID:12239711 PMID:12490068 PMID:15221792 PMID:15586175 PMID:15796962 PMID:16088908 PMID:16199547 PMID:16283885 PMID:17041877 PMID:17301954 PMID:17576681 PMID:17589361 PMID:18165274 PMID:18373409 PMID:18666861 PMID:18976157 PMID:19309273 PMID:19344451 PMID:19504431 PMID:19810120 PMID:19839753 PMID:20425833 PMID:21520333 PMID:21703028 PMID:22258776 PMID:22382802 PMID:22820392 PMID:23262345 PMID:23439489 PMID:23629877 PMID:24120389 PMID:24496678 PMID:24532482 PMID:24728327 PMID:24728384 PMID:25230886 PMID:25449079 PMID:25468659 PMID:25591329 PMID:25640679 PMID:25741868 PMID:25744876 PMID:26246518 PMID:26402641 PMID:26961984 PMID:27748933 PMID:28492532 PMID:28690282 PMID:28849184 PMID:29126381 PMID:29529714 PMID:29625052 PMID:30075207 PMID:30288735 PMID:30334991 PMID:30544257 PMID:30806661 PMID:30997052 PMID:31030431 PMID:31096510 PMID:32293802 PMID:34070849 PMID:34092239 PMID:34403521 More...
|
|
NCBI chr 3:100,120,776...100,253,424
|
|
|
G |
Gh1 |
growth hormone 1 |
|
IEP |
associated with Acromegaly |
RGD |
PMID:10499542 |
RGD:10003127 |
NCBI chr10:91,727,883...91,729,860
|
|
G |
Igf1 |
insulin-like growth factor 1 |
|
IEP |
associated with Acromegaly |
RGD |
PMID:10499542 |
RGD:10003127 |
NCBI chr 7:24,169,608...24,249,446
|
|
|
G |
Csf1 |
colony stimulating factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20436471 |
|
NCBI chr 2:198,065,400...198,084,774
|
|
G |
Dcstamp |
dendrocyte expressed seven transmembrane protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21623375 |
|
NCBI chr 7:70,807,455...70,822,067
|
|
G |
Dock6 |
dedicator of cytokinesis 6 |
|
ISO |
ClinVar Annotator: match by term: Paget disease of bone |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:20,342,430...20,394,660
|
|
G |
Inpp5d |
inositol polyphosphate-5-phosphatase D |
|
ISS |
OMIM:167250 | OMIM:602080 | OMIM:606263 |
MouseDO |
|
|
NCBI chr 9:95,735,533...95,840,584
|
|
G |
Mrnip |
MRN complex interacting protein |
|
ISO |
ClinVar Annotator: match by term: Bone Paget disease |
ClinVar |
PMID:25741868 |
|
NCBI chr10:35,002,440...35,026,555
|
|
G |
Nup205 |
nucleoporin 205 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21623375 |
|
NCBI chr 4:63,854,934...63,920,852
|
|
G |
Optn |
optineurin |
|
ISO |
DNA:SNP: :rs1561570 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20436471 PMID:21059646 PMID:20436471 |
RGD:6480512 |
NCBI chr17:73,209,572...73,260,251
|
|
G |
Pml |
PML nuclear body scaffold |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21623375 |
|
NCBI chr 8:58,627,347...58,661,927
|
|
G |
Rin3 |
Ras and Rab interactor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21623375 |
|
NCBI chr 6:127,196,648...127,305,821
|
|
G |
Sqstm1 |
sequestosome 1 |
|
ISO ISS |
DNA:point mutation: :p.P392L (human) ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone, familial CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:11473345 PMID:11992264 PMID:15125799 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16813535 PMID:17229007 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20499339 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:23417734 PMID:23447461 PMID:23612225 PMID:23812289 PMID:23820649 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24486447 PMID:24899140 PMID:25241215 PMID:25382069 PMID:25512523 PMID:25741868 PMID:25796131 PMID:26467025 PMID:26627873 PMID:26713335 PMID:27275741 PMID:27594680 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29599744 PMID:30154079 PMID:31859009 PMID:32036052 PMID:36515702 PMID:11992264 More...
|
RGD:1599121 |
NCBI chr10:35,026,598...35,037,750
|
|
G |
Tnfrsf11a |
TNF receptor superfamily member 11A |
|
ISO ISS |
Paget disease of bone, OMIM:602080 ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone CTD Direct Evidence: marker/mechanism |
MouseDO ClinVar CTD RGD |
PMID:20436471 PMID:24033266 PMID:25741868 PMID:28492532 PMID:10615125 |
RGD:1599463 |
NCBI chr13:22,442,930...22,501,257
|
|
G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
susceptibility |
ISO |
DNA:deletion:exon |
RGD |
PMID:12189164 |
RGD:1620794 |
NCBI chr 7:87,456,318...87,484,324
|
|
G |
Vcp |
valosin-containing protein |
|
ISO |
IBMPFD, OMIM:167320 |
RGD |
PMID:15034582 |
RGD:1599735 |
NCBI chr 5:62,005,984...62,025,387
|
|
G |
Zfp687 |
zinc finger protein 687 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 2:182,572,893...182,581,641
|
|
|
G |
Sqstm1 |
sequestosome 1 |
|
ISO |
ClinVar Annotator: match by term: Paget disease of bone 2 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset |
ClinVar |
PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15146436 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16691492 PMID:16813535 PMID:17129171 PMID:17181397 PMID:17229007 PMID:17229008 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20200946 PMID:20499339 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:22491873 PMID:22972638 PMID:23417734 PMID:23447461 PMID:23612225 PMID:23812289 PMID:23820649 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24486447 PMID:24899140 PMID:25241215 PMID:25382069 PMID:25512523 PMID:25681989 PMID:25741868 PMID:25796131 PMID:26412716 PMID:26467025 PMID:26601740 PMID:26627873 PMID:26713335 PMID:27275741 PMID:27594680 PMID:28003435 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29525180 PMID:29599744 PMID:29895397 PMID:30154079 PMID:30679323 PMID:30842500 PMID:30954774 PMID:31859009 PMID:32036052 PMID:32397312 PMID:33601107 PMID:36515702 More...
|
|
NCBI chr10:35,026,598...35,037,750
|
|
G |
Tnfrsf11a |
TNF receptor superfamily member 11A |
|
ISO |
ClinVar Annotator: match by term: Paget disease of bone 2 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset |
OMIM ClinVar |
PMID:9536098 PMID:10615125 PMID:11771666 PMID:12568416 PMID:17447113 PMID:17576681 PMID:21472776 PMID:25063546 PMID:25741868 PMID:28492532 PMID:31923705 More...
|
|
NCBI chr13:22,442,930...22,501,257
|
|
|
G |
Mrnip |
MRN complex interacting protein |
|
ISO |
ClinVar Annotator: match by term: Paget disease of bone 3 |
ClinVar |
PMID:25741868 |
|
NCBI chr10:35,002,440...35,026,555
|
|
G |
Sqstm1 |
sequestosome 1 |
|
ISO |
ClinVar Annotator: match by term: Paget disease of bone 3 |
OMIM ClinVar |
PMID:11473345 PMID:11992264 PMID:12374763 PMID:15125799 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16199547 PMID:16813535 PMID:17129171 PMID:17188686 PMID:17229007 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20499339 PMID:21073987 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:22972638 PMID:23303844 PMID:23417734 PMID:23447461 PMID:23612225 PMID:23812289 PMID:23820649 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24486447 PMID:24899140 PMID:25241215 PMID:25382069 PMID:25433461 PMID:25512523 PMID:25681989 PMID:25741868 PMID:25796131 PMID:25852467 PMID:26208961 PMID:26467025 PMID:26627873 PMID:26713335 PMID:26836416 PMID:27156075 PMID:27163810 PMID:27275741 PMID:27594680 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29599744 PMID:30154079 PMID:30679323 PMID:31108397 PMID:31116477 PMID:31859009 PMID:32036052 PMID:32385536 PMID:32409511 PMID:32843152 PMID:36515702 More...
|
|
NCBI chr10:35,026,598...35,037,750
|
|
|
G |
Colec10 |
collectin subfamily member 10 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease |
ClinVar |
PMID:106682 PMID:12124406 |
|
NCBI chr 7:87,634,686...87,695,465
|
|
G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar Annotator: match by term: TNFRSF11B-related condition |
OMIM ClinVar |
PMID:106682 PMID:12124406 PMID:12189164 PMID:14672344 PMID:19436932 PMID:23837846 PMID:25108083 PMID:25741868 PMID:26762549 PMID:28492532 PMID:34166796 More...
|
|
NCBI chr 7:87,456,318...87,484,324
|
|
|
G |
Zfp687 |
zinc finger protein 687 |
|
ISO |
ClinVar Annotator: match by term: Paget disease of bone 6 | ClinVar Annotator: match by term: ZNF687-related condition |
OMIM ClinVar |
PMID:9536098 PMID:15123951 PMID:17576681 PMID:22936311 PMID:25741868 PMID:26849110 PMID:28492532 PMID:29493781 More...
|
|
NCBI chr 2:182,572,893...182,581,641
|
|
|
G |
Ankh |
ANKH inorganic pyrophosphate transport regulator |
|
ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:78,153,027...78,280,181
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
DNA:missense mutation: :c.716G>A (p.R239Q) (human) |
RGD |
PMID:23951358 |
RGD:8662399 |
NCBI chr20:36,302,490...36,315,010
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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 |
PMID:25741868 |
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NCBI chr 2:78,290,437...78,316,633
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G |
Lrp4 |
LDL receptor related protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:77,429,600...77,483,593
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G |
Sost |
sclerostin |
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ISO |
DNA:transition: :69C>T (human) ClinVar Annotator: match by term: CORTICAL HYPEROSTOSIS WITH SYNDACTYLY CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:25741868 PMID:28492532 PMID:11179006 |
RGD:68858 |
NCBI chr10:87,412,722...87,415,766
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G |
Sost |
sclerostin |
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ISO ISS |
ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1 OMIM:269500 |
OMIM ClinVar MouseDO |
PMID:11179006 PMID:11181578 PMID:19072561 PMID:21221996 PMID:25741868 PMID:25984533 PMID:28492532 More...
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NCBI chr10:87,412,722...87,415,766
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G |
Lrp4 |
LDL receptor related protein 4 |
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ISO ISS |
ClinVar Annotator: match by term: Sclerosteosis 2 OMIM:614305 |
OMIM ClinVar MouseDO |
PMID:7891385 PMID:9536098 PMID:11385236 PMID:17576681 PMID:21471202 PMID:24234652 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:77,429,600...77,483,593
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G |
Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
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ISO |
ClinVar Annotator: match by term: Elevated alkaline phosphatase |
ClinVar |
PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:20301711 PMID:25231362 PMID:25337607 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 PMID:31589614 PMID:32183277 PMID:32376792 PMID:33477664 PMID:35662277 PMID:36140714 More...
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NCBI chr 5:6,715,935...6,735,013
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G |
Pigv |
phosphatidylinositol glycan anchor biosynthesis, class V |
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ISO |
ClinVar Annotator: match by term: Elevated alkaline phosphatase |
ClinVar |
PMID:28492532 |
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NCBI chr 5:145,889,642...145,901,533
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G |
Sost |
sclerostin |
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ISS |
OMIM:239100 |
MouseDO |
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NCBI chr10:87,412,722...87,415,766
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G |
Hspg2 |
heparan sulfate proteoglycan 2 |
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ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:154,960,818...155,061,971
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G |
Il6st |
interleukin 6 cytokine family signal transducer |
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ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome |
ClinVar |
PMID:25741868 PMID:31914175 |
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NCBI chr 2:45,798,872...45,839,501
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G |
Lifr |
LIF receptor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome |
ClinVar |
PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 PMID:20447141 PMID:24033266 PMID:24477277 PMID:24988918 PMID:25326635 PMID:25540807 PMID:25741868 PMID:25868946 PMID:26627873 PMID:26752647 PMID:28334964 PMID:28492532 PMID:30614825 PMID:34063511 PMID:34426522 More...
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NCBI chr 2:57,951,787...58,020,357
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G |
Hspg2 |
heparan sulfate proteoglycan 2 |
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ISO |
ClinVar Annotator: match by term: Stüve-Wiedemann syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:154,960,818...155,061,971
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G |
Lifr |
LIF receptor subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 ClinVar Annotator: match by term: LIFR-related condition | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 |
OMIM CTD ClinVar |
PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 PMID:19603067 PMID:24477277 PMID:25741868 PMID:25868946 PMID:26627873 PMID:28334964 PMID:28492532 PMID:30919572 PMID:34063511 PMID:34426522 More...
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NCBI chr 2:57,951,787...58,020,357
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:37,196,765...37,285,955
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G |
Cimip2b |
ciliary microtubule inner protein 2B |
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ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:62,471,246...62,477,812
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G |
Il6st |
interleukin 6 cytokine family signal transducer |
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ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31914175 |
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NCBI chr 2:45,798,872...45,839,501
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G |
Rusc2 |
RUN and SH3 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:62,424,185...62,471,317
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G |
Lrp5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Endosteal hyperostosis, autosomal dominant | ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Osteosclerosis of the skull and enlarged mandible | ClinVar Annotator: match by term: Worth disease CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 PMID:11883972 PMID:12015390 PMID:12579474 PMID:15024691 PMID:15077203 PMID:15201508 PMID:15619672 PMID:15767861 PMID:15777745 PMID:15824851 PMID:15824861 PMID:15850991 PMID:16234968 PMID:16252235 PMID:16679074 PMID:17137849 PMID:17202888 PMID:17223614 PMID:17306638 PMID:17307038 PMID:17576681 PMID:18026682 PMID:18058054 PMID:18349089 PMID:18521528 PMID:18588671 PMID:18602879 PMID:19324841 PMID:21116122 PMID:21528003 PMID:22025579 PMID:22456437 PMID:22511589 PMID:23318847 PMID:23441120 PMID:23744590 PMID:24423337 PMID:24706814 PMID:24715757 PMID:25323851 PMID:25711638 PMID:25741868 PMID:25920554 PMID:26348019 PMID:26467025 PMID:28192794 PMID:28222408 PMID:28378289 PMID:28420620 PMID:28492532 PMID:28494495 PMID:29168297 PMID:29181528 PMID:30283887 PMID:30452590 PMID:31039433 PMID:31827910 PMID:33118644 PMID:33302760 PMID:33939331 PMID:34639175 PMID:34673960 PMID:34860240 PMID:35106624 PMID:35252483 PMID:35328049 More...
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NCBI chr 1:200,814,247...200,917,581
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