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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:asphyxiating thoracic dystrophy
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Accession:DOID:0050592 term browser browse the term
Definition:A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. (DO)
Synonyms:exact_synonym: Jeune syndrome;   Jeune thoracic dysplasia;   Jeune thoracic dystrophy;   Jeune's syndrome;   asphyxiating thoracic dystrophy (ATD);   short rib polydactyly syndrome, Majewski type;   short rib-polydactyly syndrome;   short rib-polydactyly syndromes;   short-rib thoracic dysplasia with or without polydactyly;   thoracic pelvic phalangeal dystrophy
 narrow_synonym: short ribs
 primary_id: MESH:D012779
 xref: MIM:PS208500;   NCI:C84794;   ORDO:474

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show annotations for term's descendants           Sort by:
asphyxiating thoracic dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl5 angiopoietin like 5 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004624878:966,017...993,251 JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 NCBI chrNW_004624849:5,635,996...5,644,139
Ensembl chrNW_004624849:5,633,076...5,644,221 		JBrowse link
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 NCBI chrNW_004624878:476,460...514,637 JBrowse link
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 NCBI chrNW_004624878:516,750...541,475
Ensembl chrNW_004624878:523,300...536,062 		JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:26092869 NCBI chrNW_004624817:2,880,775...3,060,399
Ensembl chrNW_004624817:2,880,976...3,042,004 		JBrowse link
G Cep120 centrosomal protein 120 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624774:18,587,363...18,654,726
Ensembl chrNW_004624774:18,587,485...18,654,897 		JBrowse link
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 NCBI chrNW_004624878:871,394...960,728
Ensembl chrNW_004624878:872,383...960,436 		JBrowse link
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 NCBI chrNW_004624878:801,173...830,479
Ensembl chrNW_004624878:801,132...830,574 		JBrowse link
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27466187 NCBI chrNW_004624850:219,042...286,756
Ensembl chrNW_004624850:218,958...278,199 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Short ribs ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624787:3,308,502...3,506,450
Ensembl chrNW_004624787:3,308,484...3,500,852 		JBrowse link
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 NCBI chrNW_004624918:2,090,727...2,123,926
Ensembl chrNW_004624918:2,090,733...2,123,926 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome 		ClinVar PMID:3442652 PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624918:1,730,675...2,071,231
Ensembl chrNW_004624918:1,730,708...2,071,072 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chrNW_004624800:213,589...301,066
Ensembl chrNW_004624800:209,737...300,606 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 More... NCBI chrNW_004624760:6,321,195...6,331,784
Ensembl chrNW_004624760:6,321,172...6,331,532 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624738:25,245,792...25,298,397
Ensembl chrNW_004624738:25,245,890...25,283,706 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624730:61,467,262...61,479,848
Ensembl chrNW_004624730:61,467,510...61,479,756 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:16199547 PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 More... NCBI chrNW_004624755:22,326,321...22,429,141
Ensembl chrNW_004624755:22,331,117...22,428,873 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Short ribs ClinVar PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27666822 NCBI chrNW_004624771:18,239,437...18,270,408 JBrowse link
G Fuz fuzzy planar cell polarity protein ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chrNW_004624832:4,509,118...4,514,180
Ensembl chrNW_004624832:4,509,505...4,514,183 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624787:3,557,946...3,613,235
Ensembl chrNW_004624787:3,559,903...3,591,615 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:33200460 NCBI chrNW_004624767:19,212,218...19,231,218
Ensembl chrNW_004624767:19,210,965...19,231,082 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chrNW_004624913:616,283...712,040
Ensembl chrNW_004624913:621,203...711,493 		JBrowse link
G Ift172 intraflagellar transport 172 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624738:9,510,452...9,546,985
Ensembl chrNW_004624738:9,510,512...9,545,933 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:16199547 PMID:24488770 PMID:25446516 PMID:25741868 PMID:28492532 NCBI chrNW_004624752:11,005,101...11,020,493
Ensembl chrNW_004624752:11,004,841...11,021,250 		JBrowse link
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 NCBI chrNW_004624734:25,628,737...25,713,924
Ensembl chrNW_004624734:25,628,899...25,713,875 		JBrowse link
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27466190 PMID:28492532 PMID:29068549 NCBI chrNW_004624790:10,674,002...10,726,292
Ensembl chrNW_004624790:10,678,911...10,726,265 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chrNW_004624736:31,188,963...31,308,872
Ensembl chrNW_004624736:31,188,987...31,306,815 		JBrowse link
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 More... NCBI chrNW_004624730:38,003,437...38,144,312
Ensembl chrNW_004624730:38,003,902...38,144,277 		JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:3196484 PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chrNW_004624747:21,624,322...21,698,195
Ensembl chrNW_004624747:21,624,862...21,698,202 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chrNW_004624776:16,954,368...17,086,377
Ensembl chrNW_004624776:16,954,507...17,086,337 		JBrowse link
G Intu inturned planar cell polarity protein 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 NCBI chrNW_004624777:8,585,777...8,674,887
Ensembl chrNW_004624777:8,596,178...8,675,295 		JBrowse link
G Kiaa0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 NCBI chrNW_004624884:3,477,240...3,624,420
Ensembl chrNW_004624884:3,478,065...3,625,711 		JBrowse link
G Kiaa0753 KIAA0753 ortholog ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29138412 PMID:31042466 PMID:31816441 More... NCBI chrNW_004624786:7,399,057...7,468,621 JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chrNW_004624835:6,469,677...6,489,790 JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624738:2,722,247...2,740,153
Ensembl chrNW_004624738:2,723,038...2,743,572 		JBrowse link
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 NCBI chrNW_004624878:71,642...79,660
Ensembl chrNW_004624878:71,642...79,602 		JBrowse link
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 NCBI chrNW_004624878:107,330...117,654
Ensembl chrNW_004624878:107,361...117,459 		JBrowse link
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 NCBI chrNW_004624878:6,017...17,368
Ensembl chrNW_004624878:6,035...17,445 		JBrowse link
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 NCBI chrNW_004624918:2,228,688...2,239,852 JBrowse link
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 NCBI chrNW_004624878:277,569...320,093
Ensembl chrNW_004624878:277,558...320,093 		JBrowse link
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 NCBI chrNW_004624878:180,919...190,525
Ensembl chrNW_004624878:180,939...190,271 		JBrowse link
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 NCBI chrNW_004624878:39,282...47,386
Ensembl chrNW_004624878:39,358...47,075 		JBrowse link
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 NCBI chrNW_004624878:345,038...364,986
Ensembl chrNW_004624878:345,038...361,652 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004624878:124,396...174,584
Ensembl chrNW_004624878:164,171...175,654 		JBrowse link
G Nek1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:22499340 PMID:23757202 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chrNW_004624769:945,788...1,146,921
Ensembl chrNW_004624769:945,644...1,147,246 		JBrowse link
G Rab34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Jeune's syndrome ClinVar PMID:25741868 PMID:37619988 NCBI chrNW_004624786:1,286,886...1,291,582
Ensembl chrNW_004624786:1,286,887...1,291,419 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624787:3,767,405...3,939,065
Ensembl chrNW_004624787:3,768,120...3,908,889 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624732:222,657...330,959
Ensembl chrNW_004624732:251,860...328,917 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624787:3,995,319...4,148,230
Ensembl chrNW_004624787:3,997,887...4,085,449 		JBrowse link
G Sltm SAFB like transcription modulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822 NCBI chrNW_004624781:13,042,831...13,090,493 JBrowse link
G Smarcad1 SNF2 related chromatin remodeling ATPase with DExD box 1 ISO MouseDO NCBI chrNW_004624757:22,038,421...22,103,266
Ensembl chrNW_004624757:22,038,542...22,103,960 		JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:24183451 PMID:28492532 PMID:29068549 NCBI chrNW_004624760:6,331,554...6,388,953
Ensembl chrNW_004624760:6,331,554...6,386,216 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549 NCBI chrNW_004624847:3,424,388...3,469,708
Ensembl chrNW_004624847:3,424,365...3,472,075 		JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004624878:1,321,022...1,469,964
Ensembl chrNW_004624878:1,321,497...1,468,865 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar Annotator: match by term: Thoracic pelvic phalangeal dystrophy 		ClinVar PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 More... NCBI chrNW_004624787:3,685,700...3,745,018
Ensembl chrNW_004624787:3,686,088...3,744,895 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24504730 More... NCBI chrNW_004624840:7,624,744...7,702,283
Ensembl chrNW_004624840:7,624,687...7,699,997 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 More... NCBI chrNW_004624738:2,618,464...2,720,567
Ensembl chrNW_004624738:2,618,738...2,623,166
Ensembl chrNW_004624738:2,618,738...2,623,166 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chrNW_004624878:621,214...776,363 JBrowse link
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:26077881 NCBI chrNW_004624738:25,287,574...25,310,643
Ensembl chrNW_004624738:25,287,841...25,309,828 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624787:3,308,502...3,506,450
Ensembl chrNW_004624787:3,308,484...3,500,852 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 More... NCBI chrNW_004624918:1,730,675...2,071,231
Ensembl chrNW_004624918:1,730,708...2,071,072 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chrNW_004624800:213,589...301,066
Ensembl chrNW_004624800:209,737...300,606 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 More... NCBI chrNW_004624738:25,245,792...25,298,397
Ensembl chrNW_004624738:25,245,890...25,283,706 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:25741868 More... NCBI chrNW_004624755:22,326,321...22,429,141
Ensembl chrNW_004624755:22,331,117...22,428,873 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624787:3,557,946...3,613,235
Ensembl chrNW_004624787:3,559,903...3,591,615 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:9536098 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:616,283...712,040
Ensembl chrNW_004624913:621,203...711,493 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624738:9,510,452...9,546,985
Ensembl chrNW_004624738:9,510,512...9,545,933 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:9536098 PMID:17576681 PMID:19648123 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624730:38,003,437...38,144,312
Ensembl chrNW_004624730:38,003,902...38,144,277 		JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chrNW_004624835:6,469,677...6,489,790 JBrowse link
G Nek1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 NCBI chrNW_004624769:945,788...1,146,921
Ensembl chrNW_004624769:945,644...1,147,246 		JBrowse link
G Rab34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:37619988 NCBI chrNW_004624786:1,286,886...1,291,582
Ensembl chrNW_004624786:1,286,887...1,291,419 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624787:3,767,405...3,939,065
Ensembl chrNW_004624787:3,768,120...3,908,889 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624732:222,657...330,959
Ensembl chrNW_004624732:251,860...328,917 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624787:3,995,319...4,148,230
Ensembl chrNW_004624787:3,997,887...4,085,449 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624787:3,685,700...3,745,018
Ensembl chrNW_004624787:3,686,088...3,744,895 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chrNW_004624840:7,624,744...7,702,283
Ensembl chrNW_004624840:7,624,687...7,699,997 		JBrowse link
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chrNW_004624730:38,003,437...38,144,312
Ensembl chrNW_004624730:38,003,902...38,144,277 		JBrowse link
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I ClinVar PMID:19442771 PMID:23456818 PMID:25741868 PMID:28492532 NCBI chrNW_004624824:85,369...144,053
Ensembl chrNW_004624824:84,430...144,062 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I ClinVar PMID:21361913 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624737:27,171,402...27,195,008
Ensembl chrNW_004624737:27,171,402...27,195,004 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624734:2,253,931...2,311,341
Ensembl chrNW_004624734:2,254,085...2,311,177 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-related disorder | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly OMIM
ClinVar		 PMID:3442652 PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624918:1,730,675...2,071,231
Ensembl chrNW_004624918:1,730,708...2,071,072 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chrNW_004624800:213,589...301,066
Ensembl chrNW_004624800:209,737...300,606 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:29068549 NCBI chrNW_004624760:6,321,195...6,331,784
Ensembl chrNW_004624760:6,321,172...6,331,532 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:25741868 NCBI chrNW_004624730:61,467,262...61,479,848
Ensembl chrNW_004624730:61,467,510...61,479,756 		JBrowse link
G Fam98c family with sequence similarity 98 member C ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chrNW_004624794:11,864,635...11,868,418 JBrowse link
G Ift80 intraflagellar transport 80 ISO OMIM:613091 MouseDO NCBI chrNW_004624730:38,003,437...38,144,312
Ensembl chrNW_004624730:38,003,902...38,144,277 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chrNW_004624736:38,633,343...38,745,404
Ensembl chrNW_004624736:38,635,037...38,738,885 		JBrowse link
G Nek1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar PMID:21211617 PMID:25741868 NCBI chrNW_004624769:945,788...1,146,921
Ensembl chrNW_004624769:945,644...1,147,246 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I ClinVar PMID:19442771 PMID:19710327 PMID:23456818 PMID:25741868 PMID:28218389 More... NCBI chrNW_004624794:8,439,609...8,449,731
Ensembl chrNW_004624794:8,439,600...8,450,179 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chrNW_004624786:10,017,349...10,018,658
Ensembl chrNW_004624786:10,017,352...10,018,582 		JBrowse link
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B 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 More... NCBI chrNW_004624787:3,685,700...3,745,018
Ensembl chrNW_004624787:3,686,088...3,744,895 		JBrowse link
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 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 More... NCBI chrNW_004624840:7,624,744...7,702,283
Ensembl chrNW_004624840:7,624,687...7,699,997 		JBrowse link
Beemer-Langer syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:26826164 PMID:28492532 PMID:29068549 NCBI chrNW_004624918:1,730,675...2,071,231
Ensembl chrNW_004624918:1,730,708...2,071,072 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:17024374 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624755:22,326,321...22,429,141
Ensembl chrNW_004624755:22,331,117...22,428,873 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:28492532 PMID:29068549 NCBI chrNW_004624730:38,003,437...38,144,312
Ensembl chrNW_004624730:38,003,902...38,144,277 		JBrowse link
G Nek1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:25741868 PMID:29068549 NCBI chrNW_004624769:945,788...1,146,921
Ensembl chrNW_004624769:945,644...1,147,246 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chrNW_004624787:3,685,700...3,745,018
Ensembl chrNW_004624787:3,686,088...3,744,895 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome ClinVar PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:26275793 More... NCBI chrNW_004624840:7,624,744...7,702,283
Ensembl chrNW_004624840:7,624,687...7,699,997 		JBrowse link
short-rib thoracic dysplasia 10 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fndc4 fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chrNW_004624738:9,547,801...9,550,310 JBrowse link
G Gckr glucokinase regulator ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chrNW_004624738:9,552,260...9,574,082
Ensembl chrNW_004624738:9,552,386...9,574,082 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004624738:9,510,452...9,546,985
Ensembl chrNW_004624738:9,510,512...9,545,933 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624730:38,003,437...38,144,312
Ensembl chrNW_004624730:38,003,902...38,144,277 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24140113 More... NCBI chrNW_004624738:9,508,571...9,510,376
Ensembl chrNW_004624738:9,508,599...9,509,970 		JBrowse link
short-rib thoracic dysplasia 11 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: DYNC2I2-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19610081 PMID:24183449 More... NCBI chrNW_004624760:6,321,195...6,331,784
Ensembl chrNW_004624760:6,321,172...6,331,532 		JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly ClinVar PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 PMID:29068549 More... NCBI chrNW_004624760:6,331,554...6,388,953
Ensembl chrNW_004624760:6,331,554...6,386,216 		JBrowse link
short-rib thoracic dysplasia 13 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep120 centrosomal protein 120 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25251415 PMID:25361962 More... NCBI chrNW_004624774:18,587,363...18,654,726
Ensembl chrNW_004624774:18,587,485...18,654,897 		JBrowse link
short-rib thoracic dysplasia 14 with polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiaa0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: KIAA0586-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly OMIM
ClinVar		 PMID:2080096 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301500 More... NCBI chrNW_004624884:3,477,240...3,624,420
Ensembl chrNW_004624884:3,478,065...3,625,711 		JBrowse link
Short-Rib Thoracic Dysplasia 15 with Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: DYNC2LI1-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly ClinVar PMID:11138003 PMID:17228349 PMID:17976197 PMID:19111681 PMID:20521169 More... NCBI chrNW_004624738:25,287,574...25,310,643
Ensembl chrNW_004624738:25,287,841...25,309,828 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: DYNC2LI1-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly OMIM
ClinVar		 PMID:8960501 PMID:9536098 PMID:11138003 PMID:17228349 PMID:17576681 More... NCBI chrNW_004624738:25,245,792...25,298,397
Ensembl chrNW_004624738:25,245,890...25,283,706 		JBrowse link
Short-Rib Thoracic Dysplasia 16 with or without Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: IFT52-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly OMIM
ClinVar		 PMID:25741868 PMID:26880018 PMID:27466190 PMID:28492532 PMID:30242358 More... NCBI chrNW_004624790:10,674,002...10,726,292
Ensembl chrNW_004624790:10,678,911...10,726,265 		JBrowse link
Short-Rib Thoracic Dysplasia 17 with or without Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: DYNLT2B-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26044572 PMID:27021811 More... NCBI chrNW_004624730:61,467,262...61,479,848
Ensembl chrNW_004624730:61,467,510...61,479,756 		JBrowse link
short-rib thoracic dysplasia 18 with polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly OMIM
ClinVar		 PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 NCBI chrNW_004624734:25,628,737...25,713,924
Ensembl chrNW_004624734:25,628,899...25,713,875 		JBrowse link
short-rib thoracic dysplasia 19 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: IFT81-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 19 with or without polydactyly OMIM
ClinVar		 PMID:3196484 PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chrNW_004624747:21,624,322...21,698,195
Ensembl chrNW_004624747:21,624,862...21,698,202 		JBrowse link
Short-Rib Thoracic Dysplasia 20 with Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 20 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic OMIM
ClinVar		 PMID:25741868 PMID:27158779 PMID:28492532 NCBI chrNW_004624777:8,585,777...8,674,887
Ensembl chrNW_004624777:8,596,178...8,675,295 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic ClinVar PMID:25741868 PMID:27158779 PMID:28400947 PMID:29068549 NCBI chrNW_004624738:2,618,464...2,720,567
Ensembl chrNW_004624738:2,618,738...2,623,166
Ensembl chrNW_004624738:2,618,738...2,623,166 		JBrowse link
Short-Rib Thoracic Dysplasia 21 without Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiaa0753 KIAA0753 ortholog ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29138412 PMID:31042466 PMID:31816441 More... NCBI chrNW_004624786:7,399,057...7,468,621 JBrowse link
short-rib thoracic dysplasia 6 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624870:2,803,743...2,832,489
Ensembl chrNW_004624870:2,800,873...2,832,626 		JBrowse link
G Cbr4 carbonyl reductase 4 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:22499340 PMID:28492532 PMID:29068549 NCBI chrNW_004624769:564,148...603,402
Ensembl chrNW_004624769:581,800...604,075 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:16199547 PMID:23339108 PMID:24183451 PMID:25741868 PMID:26938784 More... NCBI chrNW_004624918:1,730,675...2,071,231
Ensembl chrNW_004624918:1,730,708...2,071,072 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:29068549 NCBI chrNW_004624738:25,245,792...25,298,397
Ensembl chrNW_004624738:25,245,890...25,283,706 		JBrowse link
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:9066272 PMID:9536098 PMID:10700162 PMID:10700184 PMID:14217223 More... NCBI chrNW_004624755:22,432,174...22,478,595
Ensembl chrNW_004624755:22,437,167...22,478,591 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:12571802 PMID:17024374 PMID:19810119 PMID:19876929 PMID:21199751 More... NCBI chrNW_004624755:22,326,321...22,429,141
Ensembl chrNW_004624755:22,331,117...22,428,873 		JBrowse link
G Fuz fuzzy planar cell polarity protein ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:29068549 NCBI chrNW_004624832:4,509,118...4,514,180
Ensembl chrNW_004624832:4,509,505...4,514,183 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:24140113 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chrNW_004624738:9,510,452...9,546,985
Ensembl chrNW_004624738:9,510,512...9,545,933 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:29068549 NCBI chrNW_004624736:31,188,963...31,308,872
Ensembl chrNW_004624736:31,188,987...31,306,815 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:19648123 PMID:28492532 PMID:29068549 PMID:30266093 NCBI chrNW_004624730:38,003,437...38,144,312
Ensembl chrNW_004624730:38,003,902...38,144,277 		JBrowse link
G Nek1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: NEK1-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar
OMIM		 PMID:263520 PMID:3014367 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624769:945,788...1,146,921
Ensembl chrNW_004624769:945,644...1,147,246 		JBrowse link
G Palld palladin, cytoskeletal associated protein ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:22499340 PMID:28492532 PMID:29068549 NCBI chrNW_004624769:150,800...560,163
Ensembl chrNW_004624769:150,738...559,045 		JBrowse link
G Sh3rf1 SH3 domain containing ring finger 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:22499340 PMID:28492532 PMID:29068549 NCBI chrNW_004624769:668,175...834,863
Ensembl chrNW_004624769:666,406...834,156 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:16199547 PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 More... NCBI chrNW_004624847:3,424,388...3,469,708
Ensembl chrNW_004624847:3,424,365...3,472,075 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chrNW_004624787:3,685,700...3,745,018
Ensembl chrNW_004624787:3,686,088...3,744,895 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 PMID:28870638 PMID:29068549 NCBI chrNW_004624738:2,618,464...2,720,567
Ensembl chrNW_004624738:2,618,738...2,623,166
Ensembl chrNW_004624738:2,618,738...2,623,166 		JBrowse link
short-rib thoracic dysplasia 7 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624738:2,722,247...2,740,153
Ensembl chrNW_004624738:2,723,038...2,743,572 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly OMIM
ClinVar		 PMID:17935248 PMID:21473986 PMID:22486404 PMID:25741868 PMID:25908617 More... NCBI chrNW_004624738:2,618,464...2,720,567
Ensembl chrNW_004624738:2,618,738...2,623,166
Ensembl chrNW_004624738:2,618,738...2,623,166 		JBrowse link
short-rib thoracic dysplasia 8 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly OMIM
ClinVar		 PMID:9068549 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23910462 More... NCBI chrNW_004624800:213,589...301,066
Ensembl chrNW_004624800:209,737...300,606 		JBrowse link
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:85,369...144,053
Ensembl chrNW_004624824:84,430...144,062 		JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,777,141...1,902,324
Ensembl chrNW_004624824:1,777,141...1,939,071 		JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:273,036...282,866
Ensembl chrNW_004624824:271,884...282,866 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,478,608...2,507,287
Ensembl chrNW_004624824:2,478,608...2,505,257 		JBrowse link
G Antkmt adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,528,289...1,531,333
Ensembl chrNW_004624913:1,529,628...1,531,333 		JBrowse link
G Arhgdig Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,133,381...1,135,386
Ensembl chrNW_004624913:1,133,421...1,135,403 		JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:267,102...272,893
Ensembl chrNW_004624824:267,102...272,893 		JBrowse link
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,139,165...1,195,477
Ensembl chrNW_004624913:1,139,165...1,195,230 		JBrowse link
G Baiap3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:2,045,702...2,060,092
Ensembl chrNW_004624913:2,045,721...2,060,092 		JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:772,466...779,707
Ensembl chrNW_004624824:772,471...779,192 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:48,445...50,752
Ensembl chrNW_004624913:48,343...50,669 		JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,926,405...1,952,426
Ensembl chrNW_004624913:1,891,156...1,949,633 		JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,343,471...1,367,998
Ensembl chrNW_004624913:1,356,143...1,366,817 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:62,217...79,228
Ensembl chrNW_004624913:62,332...77,819 		JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:2,134,763...2,142,446
Ensembl chrNW_004624913:2,134,780...2,141,780 		JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,531,325...1,535,637
Ensembl chrNW_004624913:1,531,511...1,535,067 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:181,696...204,045
Ensembl chrNW_004624824:181,735...204,029 		JBrowse link
G Cdip1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,317,562...2,338,983 JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,594,754...1,603,587 JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,538,561...1,553,409
Ensembl chrNW_004624913:1,538,546...1,553,415 		JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:2,140,358...2,194,695
Ensembl chrNW_004624913:2,142,633...2,174,034 		JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:760,251...764,101
Ensembl chrNW_004624824:760,798...763,142 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:757,962...759,818
Ensembl chrNW_004624824:758,662...759,315 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,299,426...1,352,019
Ensembl chrNW_004624824:1,300,137...1,351,129 		JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:551,610...616,009
Ensembl chrNW_004624913:553,470...614,680 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G CUNH16orf90 chromosome unknown C16orf90 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,289,352...1,295,555 JBrowse link
G CUNH16orf91 chromosome unknown C16orf91 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:2,117,412...2,119,350
Ensembl chrNW_004624913:2,118,207...2,119,306 		JBrowse link
G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,354,149...2,399,147 JBrowse link
G Decr2 2,4-dienoyl-CoA reductase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,237,797...1,246,723
Ensembl chrNW_004624913:1,238,173...1,244,374 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,507,454...2,518,610 JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,215,337...2,259,696
Ensembl chrNW_004624824:2,214,240...2,259,696 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,429,078...1,446,881
Ensembl chrNW_004624824:1,443,451...1,446,881 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:49,877...53,383
Ensembl chrNW_004624824:49,949...53,375 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:38,062...50,183
Ensembl chrNW_004624824:38,146...49,019 		JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:53,174...66,986
Ensembl chrNW_004624824:53,458...66,946 		JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:590,541...593,704
Ensembl chrNW_004624824:590,334...596,494 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:475,618...478,959 JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:432,780...434,359 JBrowse link
G Fam234a family with sequence similarity 234 member A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,082,352...1,123,458
Ensembl chrNW_004624913:1,086,514...1,119,752 		JBrowse link
G Fbxl16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,504,301...1,516,321
Ensembl chrNW_004624913:1,502,408...1,516,413 		JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:659,892...695,997
Ensembl chrNW_004624824:680,554...695,025 		JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:643,576...655,515
Ensembl chrNW_004624824:643,419...658,292 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:273,126...276,353
Ensembl chrNW_004624913:273,705...275,693 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,106,261...2,127,740
Ensembl chrNW_004624824:2,098,384...2,127,733 		JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,603,548...1,605,542
Ensembl chrNW_004624913:1,603,542...1,605,522 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:2,062,607...2,071,603
Ensembl chrNW_004624913:2,062,255...2,071,336 		JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:426,554...446,061
Ensembl chrNW_004624913:434,537...446,061 		JBrowse link
G Haghl hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,535,751...1,538,516
Ensembl chrNW_004624913:1,536,147...1,537,803 		JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:766,548...768,058
Ensembl chrNW_004624824:766,772...767,800 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,272,515...2,317,115 JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:323,778...330,347
Ensembl chrNW_004624913:323,854...331,489 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:19561590 More... NCBI chrNW_004624913:616,283...712,040
Ensembl chrNW_004624913:621,203...711,493 		JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:460,862...464,457
Ensembl chrNW_004624913:458,844...465,193 		JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,494,168...1,495,864
Ensembl chrNW_004624913:1,494,168...1,495,801 		JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:531,797...551,032
Ensembl chrNW_004624913:531,797...551,176 		JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:383,389...411,824
Ensembl chrNW_004624824:383,434...410,257 		JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:702,648...711,615
Ensembl chrNW_004624824:707,798...711,643 		JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,651,435...1,750,767
Ensembl chrNW_004624913:1,655,386...1,762,094 		JBrowse link
G LOC101704312 olfactory receptor 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,161,671...1,167,369
Ensembl chrNW_004624824:1,166,431...1,167,369 		JBrowse link
G Luc7l LUC7 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,047,942...1,075,588
Ensembl chrNW_004624913:1,045,658...1,075,538 		JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:481,236...529,083
Ensembl chrNW_004624913:481,207...529,070 		JBrowse link
G Mcrip2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,448,489...1,461,734
Ensembl chrNW_004624913:1,456,432...1,461,734 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:389,772...426,196
Ensembl chrNW_004624913:394,154...426,196 		JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,524,641...1,526,850
Ensembl chrNW_004624913:1,524,721...1,526,984 		JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,446,569...1,448,089
Ensembl chrNW_004624913:1,446,569...1,447,985 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,419,973...2,473,580
Ensembl chrNW_004624824:2,420,203...2,470,627 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:50,622...54,643
Ensembl chrNW_004624913:47,962...55,048 		JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:787,159...803,765
Ensembl chrNW_004624824:791,236...804,591 		JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,206,459...1,209,695
Ensembl chrNW_004624913:1,206,808...1,209,374 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:479,012...480,067
Ensembl chrNW_004624913:479,011...480,067 		JBrowse link
G Msln mesothelin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,566,516...1,576,605
Ensembl chrNW_004624913:1,570,832...1,580,058 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:310,708...315,383 JBrowse link
G Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,255,274...1,289,413
Ensembl chrNW_004624824:1,264,660...1,286,925 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:297,657...300,348
Ensembl chrNW_004624913:297,732...300,213 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:210,315...220,936
Ensembl chrNW_004624913:210,315...221,538 		JBrowse link
G Nlrc3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,356,587...1,375,403
Ensembl chrNW_004624824:1,357,326...1,375,688 		JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:479,893...481,023
Ensembl chrNW_004624913:480,190...481,023 		JBrowse link
G Nme4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,234,292...1,237,602
Ensembl chrNW_004624913:1,234,191...1,237,602 		JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,243,184...2,272,379
Ensembl chrNW_004624824:2,262,961...2,272,376 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:280,502...282,723
Ensembl chrNW_004624913:279,130...282,790 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:226,325...227,938
Ensembl chrNW_004624913:226,418...227,190 		JBrowse link
G Nthl1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:203,065...209,758
Ensembl chrNW_004624913:202,988...209,289 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:221,296...244,014
Ensembl chrNW_004624824:221,724...225,260 		JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:465,097...469,663
Ensembl chrNW_004624913:465,894...469,389 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,476,144...2,478,650 JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624746:18,235,774...18,237,603 JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:711,755...715,815
Ensembl chrNW_004624824:712,355...715,700 		JBrowse link
G Pdia2 protein disulfide isomerase family A member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,135,498...1,138,900
Ensembl chrNW_004624913:1,135,536...1,138,819 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:279,893...383,220
Ensembl chrNW_004624824:293,374...383,156 		JBrowse link
G Pgap6 post-GPI attachment to proteins 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,210,631...1,219,111 JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:45,439...48,259
Ensembl chrNW_004624913:45,499...49,060 		JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,380,178...1,397,399
Ensembl chrNW_004624913:1,383,624...1,397,396 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859 		JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:715,818...724,535
Ensembl chrNW_004624824:715,770...724,530 		JBrowse link
G Prr35 proline rich 35 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,373,946...1,378,699
Ensembl chrNW_004624913:1,373,867...1,378,797 		JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:445,535...449,984
Ensembl chrNW_004624824:445,680...450,083 		JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:412,947...419,024
Ensembl chrNW_004624824:412,249...416,085 		JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:568,647...571,453
Ensembl chrNW_004624824:568,654...575,272 		JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:732,810...742,648
Ensembl chrNW_004624913:736,680...739,342 		JBrowse link
G Rab11fip3 RAB11 family interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,258,743...1,340,349 JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:101,788...107,267
Ensembl chrNW_004624913:101,900...107,691 		JBrowse link
G Rab40c RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,402,655...1,441,509
Ensembl chrNW_004624913:1,403,374...1,442,382 		JBrowse link
G Rgs11 regulator of G protein signaling 11 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,121,987...1,132,313
Ensembl chrNW_004624913:1,122,704...1,130,869 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,486,699...1,490,326
Ensembl chrNW_004624913:1,486,584...1,490,333 		JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,480,569...1,486,502 JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:290,919...294,116
Ensembl chrNW_004624913:291,753...293,519 		JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:67,927...78,276
Ensembl chrNW_004624824:67,927...78,180 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,649,694...2,655,728
Ensembl chrNW_004624824:2,650,116...2,655,716 		JBrowse link
G Rpl3l ribosomal protein L3 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:301,921...310,655
Ensembl chrNW_004624913:301,938...310,469 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:295,554...297,588
Ensembl chrNW_004624913:295,563...300,676 		JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,590,158...1,594,497
Ensembl chrNW_004624913:1,589,335...1,594,641 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,633,025...2,645,557
Ensembl chrNW_004624824:2,633,154...2,644,880 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,398,258...1,423,652
Ensembl chrNW_004624824:1,395,434...1,420,622 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,645,488...2,649,428
Ensembl chrNW_004624824:2,648,641...2,649,427 		JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,759,460...1,764,242
Ensembl chrNW_004624913:1,759,548...1,764,344 		JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:469,732...475,767
Ensembl chrNW_004624913:470,002...475,765 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,979,539...2,041,085
Ensembl chrNW_004624824:1,981,609...2,021,159 		JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:594,203...613,225
Ensembl chrNW_004624824:594,790...609,750 		JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,812,539...1,832,566
Ensembl chrNW_004624913:1,825,435...1,832,501 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,491,873...1,494,249
Ensembl chrNW_004624913:1,491,991...1,494,249 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:266,296...270,420
Ensembl chrNW_004624913:265,316...270,491 		JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:245,717...251,603
Ensembl chrNW_004624824:243,939...254,249 		JBrowse link
G Tbl3 transducin beta like 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:282,883...289,523
Ensembl chrNW_004624913:282,887...289,407 		JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:209,758...215,362
Ensembl chrNW_004624824:209,879...218,659 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:711,588...729,209 JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,044,322...2,105,571
Ensembl chrNW_004624824:2,044,235...2,058,662 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:764,185...772,426
Ensembl chrNW_004624824:768,082...774,688
Ensembl chrNW_004624824:768,082...774,688 		JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:666,884...692,476
Ensembl chrNW_004624913:666,884...693,072 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:79,423...100,301
Ensembl chrNW_004624913:79,423...100,279 		JBrowse link
G Trap1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,446,827...1,511,062
Ensembl chrNW_004624824:1,446,827...1,511,225 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953 		JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:2,059,904...2,062,578
Ensembl chrNW_004624913:2,060,114...2,062,308 		JBrowse link
G Ubald1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,409,845...2,415,211 JBrowse link
G Ube2i ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:2,025,241...2,041,394
Ensembl chrNW_004624913:2,025,528...2,041,690 		JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:2,071,512...2,114,712
Ensembl chrNW_004624913:2,071,629...2,114,718 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:2,154,646...2,164,796
Ensembl chrNW_004624824:2,155,589...2,164,796 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chrNW_004624840:7,624,744...7,702,283
Ensembl chrNW_004624840:7,624,687...7,699,997 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,496,029...1,501,822
Ensembl chrNW_004624913:1,496,029...1,501,800 		JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,462,629...1,480,252
Ensembl chrNW_004624913:1,462,657...1,479,961 		JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:1,442,351...1,446,249
Ensembl chrNW_004624913:1,443,399...1,448,669 		JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:516,134...520,668 JBrowse link
G Znf174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,197,475...1,210,405
Ensembl chrNW_004624824:1,197,233...1,206,214 		JBrowse link
G Znf200 zinc finger protein 200 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,000,895...1,023,963
Ensembl chrNW_004624824:1,000,627...1,022,920 		JBrowse link
G Znf205 zinc finger protein 205 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:837,369...852,439
Ensembl chrNW_004624824:837,373...852,710 		JBrowse link
G Znf213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:867,742...873,996
Ensembl chrNW_004624824:869,450...873,151 		JBrowse link
G Znf263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,067,811...1,074,910
Ensembl chrNW_004624824:1,067,773...1,074,907 		JBrowse link
G Znf597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,235,666...1,255,332
Ensembl chrNW_004624824:1,235,356...1,254,877 		JBrowse link
G Znf598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624913:237,668...249,786
Ensembl chrNW_004624913:237,658...252,189 		JBrowse link
G Znf75a zinc finger protein 75a ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:1,086,123...1,137,317 JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004624824:814,332...820,032
Ensembl chrNW_004624824:814,537...819,806 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    syndrome 9756
      asphyxiating thoracic dystrophy 225
        Beemer-Langer syndrome 6
        Short-Rib Thoracic Dysplasia 15 with Polydactyly 2
        Short-Rib Thoracic Dysplasia 16 with or without Polydactyly 1
        Short-Rib Thoracic Dysplasia 17 with or without Polydactyly 1
        Short-Rib Thoracic Dysplasia 20 with Polydactyly 2
        Short-Rib Thoracic Dysplasia 21 without Polydactyly 1
        asphyxiating thoracic dystrophy 1 18
        asphyxiating thoracic dystrophy 2 1
        asphyxiating thoracic dystrophy 3 13
        asphyxiating thoracic dystrophy 4 1
        asphyxiating thoracic dystrophy 5 1
        short-rib thoracic dysplasia 10 with or without polydactyly 5
        short-rib thoracic dysplasia 11 with or without polydactyly 2
        short-rib thoracic dysplasia 13 with or without polydactyly 1
        short-rib thoracic dysplasia 14 with polydactyly 1
        short-rib thoracic dysplasia 18 with polydactyly 1
        short-rib thoracic dysplasia 19 with or without polydactyly 1
        short-rib thoracic dysplasia 6 with or without polydactyly 16
        short-rib thoracic dysplasia 7 with or without polydactyly 2
        short-rib thoracic dysplasia 8 with or without polydactyly 1
        short-rib thoracic dysplasia 9 with or without polydactyly 152
Path 2
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      musculoskeletal system disease 7383
        connective tissue disease 5040
          bone disease 3686
            bone development disease 2183
              osteochondrodysplasia 805
                asphyxiating thoracic dystrophy 225
                  Beemer-Langer syndrome 6
                  Short-Rib Thoracic Dysplasia 15 with Polydactyly 2
                  Short-Rib Thoracic Dysplasia 16 with or without Polydactyly 1
                  Short-Rib Thoracic Dysplasia 17 with or without Polydactyly 1
                  Short-Rib Thoracic Dysplasia 20 with Polydactyly 2
                  Short-Rib Thoracic Dysplasia 21 without Polydactyly 1
                  asphyxiating thoracic dystrophy 1 18
                  asphyxiating thoracic dystrophy 2 1
                  asphyxiating thoracic dystrophy 3 13
                  asphyxiating thoracic dystrophy 4 1
                  asphyxiating thoracic dystrophy 5 1
                  short-rib thoracic dysplasia 10 with or without polydactyly 5
                  short-rib thoracic dysplasia 11 with or without polydactyly 2
                  short-rib thoracic dysplasia 13 with or without polydactyly 1
                  short-rib thoracic dysplasia 14 with polydactyly 1
                  short-rib thoracic dysplasia 18 with polydactyly 1
                  short-rib thoracic dysplasia 19 with or without polydactyly 1
                  short-rib thoracic dysplasia 6 with or without polydactyly 16
                  short-rib thoracic dysplasia 7 with or without polydactyly 2
                  short-rib thoracic dysplasia 8 with or without polydactyly 1
                  short-rib thoracic dysplasia 9 with or without polydactyly 152
paths to the root