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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: NCI:C84794;   OMIM:PS208500;   ORDO:474


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 B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008 		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 chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		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 chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		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 chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520 		JBrowse link
G Cep120 centrosomal protein 120 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964 		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 chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467 		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 chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807 		JBrowse link
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:27466187 NCBI chr 8:78,984,075...79,042,695
Ensembl chr 8:78,984,258...79,042,691 		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 chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546 		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 chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950 		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 chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar Annotator: match by term: Short ribs
DNA:missense mutations:cds:multiple(human)		 CTD
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 More... RGD:11072153 NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:19610081 PMID:24183451 PMID:28492532 PMID:29068549 PMID:29241935 More... NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:25741868 More... NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Short ribs ClinVar PMID:1908846 PMID:7773297 PMID:8858131 PMID:9677066 PMID:10073901 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Flvcr1 FLVCR 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 chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661 		JBrowse link
G Fuz fuzzy planar cell polarity protein ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr 1:95,379,542...95,384,532
Ensembl chr 1:95,379,587...95,384,530 		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 chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:33200460 NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582 		JBrowse link
G Ift140 intraflagellar transport 140 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Ift172 intraflagellar transport 172 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		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:25741868 PMID:28400947 PMID:28492532 PMID:29068549 NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257 		JBrowse link
G Ift52 intraflagellar transport 52 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome		 CTD
ClinVar		 PMID:27466190 PMID:28492532 PMID:29068549 NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833 		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 chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024 		JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		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 chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676 		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 chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy		 CTD
ClinVar		 PMID:25741868 NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962 		JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101 		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 chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		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 chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748 		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 chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		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 chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		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 chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035 		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 chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806 		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 chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		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 chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902 		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 chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO DNA:missense, frameshift, nonsense mutations:cds,splice junction:
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human)		 ClinVar
CTD
RGD		 PMID:21211617 PMID:22482978 PMID:22499340 PMID:23757202 PMID:28492532 More... RGD:11072153, RGD:11069733 NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G RGD1304728 similar to 4933427D14Rik protein ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968 		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 chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		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 chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Sltm SAFB-like, transcription modulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822 NCBI chr 8:71,215,995...71,261,821
Ensembl chr 8:71,216,612...71,261,825 		JBrowse link
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` ISS MouseDO NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563 		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 chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
G Tmem123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 NCBI chr 8:4,922,098...4,952,228
Ensembl chr 8:4,922,098...4,952,224 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:28492532 PMID:29068549 NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977 		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 chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome		 CTD
ClinVar		 PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903 		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 chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome		 CTD
ClinVar		 PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 More... NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029 		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 chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010 		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 chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		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 chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More... NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		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 chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336 		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 chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Ift140 intraflagellar transport 140 ISS OMIM:208500 MouseDO NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		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 chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723 		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 chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		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 chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		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 chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome		 CTD
ClinVar		 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903 		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 chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024 		JBrowse link
asphyxiating thoracic dystrophy 3 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: 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:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 More... NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:29068549 NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499 		JBrowse link
G Fam98c family with sequence similarity 98, member C ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr 1:84,452,806...84,456,414
Ensembl chr 1:84,452,814...84,456,385 		JBrowse link
G Ift80 intraflagellar transport 80 ISS OMIM:613091 MouseDO NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:21211617 PMID:25741868 NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120 		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 chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903 		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 chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		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 chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		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 chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516 		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 chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024 		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 chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723 		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 chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903 		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 chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
Saldino-Noonan 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: Saldino-Noonan Syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome Saldino-Noonan type ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More... NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		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 chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675 		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 chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654 		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 chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		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 chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507 		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: Short-rib thoracic dysplasia 11 with or without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19610081 PMID:24183449 PMID:24183451 More... NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121 		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 chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		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 chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964 		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 LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly OMIM
ClinVar		 PMID:2080096 PMID:9536098 PMID:17576681 PMID:20301500 PMID:24033266 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962 		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: Short-rib thoracic dysplasia 15 with polydactyly ClinVar PMID:26077881 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly OMIM
ClinVar		 PMID:8960501 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26077881 More... NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336 		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: Short-rib thoracic dysplasia 16 with or without polydactyly OMIM
ClinVar		 PMID:25741868 PMID:26880018 PMID:27466190 PMID:28492532 PMID:30242358 More... NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980 		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: Short-rib thoracic dysplasia 17 with or without polydactyly OMIM
ClinVar		 PMID:25741868 PMID:26044572 PMID:28492532 NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499 		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:25741868 PMID:28400947 PMID:28492532 NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257 		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: Short-rib thoracic dysplasia 19 with or without polydactyly OMIM
ClinVar		 PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057 		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 chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676 		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 chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029 		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 RGD1304728 similar to 4933427D14Rik protein ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34016807 More... NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968 		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 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 chr16:28,629,928...28,684,230
Ensembl chr16:28,617,224...28,645,712 		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:25741868 PMID:26938784 PMID:28492532 More... NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		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 chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336 		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 chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099 		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 chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516 		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 chr 1:95,379,542...95,384,532
Ensembl chr 1:95,379,587...95,384,530 		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 chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		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 chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833 		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 chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly OMIM
ClinVar		 PMID:3014367 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21211617 More... NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723 		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 chr16:28,228,006...28,621,349
Ensembl chr16:27,981,354...28,621,337 		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 chr16:28,735,522...28,901,690
Ensembl chr16:28,735,440...28,901,644 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly ClinVar PMID:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549 NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977 		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 chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903 		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 chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029 		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 chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | 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:24033266 PMID:25741868 More... NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029 		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:17576681 PMID:23910462 PMID:24033266 More... NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719 		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 chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066 		JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095 		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 chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806 		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 chr10:14,812,274...14,814,798
Ensembl chr10:14,812,269...14,814,193 		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 chr10:15,219,049...15,221,257
Ensembl chr10:15,219,049...15,221,213 		JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit C ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,196,204...13,202,580
Ensembl chr10:13,196,204...13,201,500 		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 chr10:15,163,684...15,215,615
Ensembl chr10:15,163,684...15,215,615 		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 chr10:14,260,269...14,273,019
Ensembl chr10:14,260,269...14,273,019 		JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,691,610...12,700,049
Ensembl chr10:12,691,610...12,700,049 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259 		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 chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376 		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 chr10:14,972,807...14,999,411
Ensembl chr10:14,972,800...14,999,508 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377 		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 chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253 		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 chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
G Cdip1 cell death-inducing p53 target 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980 		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 chr10:14,743,006...14,751,044
Ensembl chr10:14,742,621...14,751,050 		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 chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950 		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 chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,710,302...12,713,987
Ensembl chr10:12,709,960...12,715,973 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,714,137...12,715,568 JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001 		JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,983,781...14,032,409
Ensembl chr10:13,983,866...14,032,392 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		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 chr10:15,104,907...15,113,281
Ensembl chr10:15,002,926...15,118,479 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891 		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 chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974 		JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061 		JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,848,830...12,853,897
Ensembl chr10:12,848,827...12,853,635 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012 		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 chr10:15,232,267...15,263,529
Ensembl chr10:15,232,278...15,263,488 		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 chr10:14,829,453...14,841,739
Ensembl chr10:14,829,449...14,840,986 		JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,774,644...12,794,373
Ensembl chr10:12,774,653...12,794,267 		JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,798,757...12,807,082
Ensembl chr10:12,798,762...12,806,439 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578 		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 chr10:14,741,179...14,743,083
Ensembl chr10:14,741,239...14,743,083 		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 chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		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 chr10:14,804,957...14,809,495
Ensembl chr10:14,804,997...14,807,665 		JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,705,139...12,706,852
Ensembl chr10:12,705,077...12,706,850 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148 		JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133 		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:20301784 More... NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		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 chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		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 chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879 		JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,963,135...13,983,212
Ensembl chr10:13,963,137...13,983,170 		JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,079,216...13,105,197
Ensembl chr10:13,079,214...13,105,209 		JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,763,345...12,767,854
Ensembl chr10:12,763,397...12,767,854 		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 chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119 		JBrowse link
G LOC100361104 CG10869-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,707,529...10,750,893 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 chr10:15,273,340...15,307,131
Ensembl chr10:15,273,348...15,303,112 		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 chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273 		JBrowse link
G Mcrip2 MAPK regulated co-repressor 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 chr10:14,883,813...14,888,784
Ensembl chr10:14,883,813...14,894,021 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046 		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 chr10:14,816,684...14,818,702
Ensembl chr10:14,816,572...14,818,701 		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 chr10:14,894,574...14,908,067
Ensembl chr10:14,894,581...14,905,851 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128 		JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,661,297...12,676,119
Ensembl chr10:12,661,208...12,675,871 		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 chr10:15,148,670...15,151,581
Ensembl chr10:15,148,681...15,151,581 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406 		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 chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609 		JBrowse link
G Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,622,554...11,653,078
Ensembl chr10:11,587,916...11,642,755 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049 		JBrowse link
G Nhlrc4 NHL repeat containing 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More...
G Nlrc3 NLR family, CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,551,378...11,585,027
Ensembl chr10:11,551,356...11,584,398 		JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,917,309...13,918,415
Ensembl chr10:13,917,403...13,918,359 		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 chr10:15,114,624...15,118,479
Ensembl chr10:15,002,926...15,118,479 		JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,721,473...13,726,061
Ensembl chr10:13,721,473...13,726,061 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586 		JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001 		JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370 		JBrowse link
G Or1f34 olfactory receptor family 1 subfamily F member 34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,333,860...12,334,801
Ensembl chr10:12,333,860...12,334,801 		JBrowse link
G Or2c1 olfactory receptor family 2 subfamily C member 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,682,890...11,683,828
Ensembl chr10:11,681,001...11,692,105 		JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649 		JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,758,970...12,762,649
Ensembl chr10:12,758,972...12,762,584 		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 chr10:15,215,824...15,218,937
Ensembl chr10:15,215,824...15,220,931 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase-1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623 		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 chr10:15,138,918...15,151,581
Ensembl chr10:15,138,959...15,148,431 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858 		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 chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,748,221...12,758,995
Ensembl chr10:12,748,237...12,758,995 		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 chr10:14,961,957...14,966,818
Ensembl chr10:14,962,162...14,964,152 		JBrowse link
G Prss21 serine protease 21 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,899,820...12,905,612
Ensembl chr10:12,900,535...12,905,618 		JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,029,153...13,033,863
Ensembl chr10:13,029,153...13,033,863 		JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,069,959...13,077,322
Ensembl chr10:13,069,959...13,077,322 		JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,858,941...12,861,281
Ensembl chr10:12,858,941...12,861,281 		JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,865,872...12,873,552
Ensembl chr10:12,865,872...12,873,552 		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 chr10:14,140,028...14,146,163
Ensembl chr10:14,140,304...14,144,846 		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 chr10:15,002,650...15,086,382
Ensembl chr10:15,002,926...15,118,479 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030 		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 chr10:14,900,926...14,936,165
Ensembl chr10:14,900,929...14,936,557 		JBrowse link
G RGD1561796 RGD1561796 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,618,867...11,632,151
Ensembl chr10:11,618,348...11,629,910 		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 chr10:15,222,803...15,231,060
Ensembl chr10:15,222,803...15,231,060 		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 chr10:14,854,514...14,858,848
Ensembl chr10:14,854,514...14,857,430 		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 chr10:14,858,954...14,864,751
Ensembl chr10:14,858,956...14,864,751 		JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000 		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 chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452 		JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163 		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 chr10:14,751,310...14,755,213
Ensembl chr10:14,751,384...14,755,207 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,572,146...10,574,339 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 chr10:14,584,829...14,589,818
Ensembl chr10:14,584,829...14,589,818 		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 chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101 		JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751 		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 chr10:14,506,868...14,512,946
Ensembl chr10:14,506,868...14,512,946 		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 chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,710,553...13,715,312
Ensembl chr10:13,704,998...13,715,669 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372 		JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,246,032...13,251,196
Ensembl chr10:13,246,037...13,251,124 		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 chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698 		JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925 		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 chr10:14,076,518...14,104,849
Ensembl chr10:14,076,519...14,101,920 		JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,707,077...12,709,071
Ensembl chr10:12,689,890...12,709,045 		JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811 		JBrowse link
G Tpsb2 tryptase beta 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,381,779...14,383,571
Ensembl chr10:14,382,013...14,383,569 		JBrowse link
G Tpsg1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,386,352...14,390,258
Ensembl chr10:14,386,352...14,390,258 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		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 chr10:14,257,150...14,259,712
Ensembl chr10:14,257,171...14,259,561 		JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518 		JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,277,749...14,294,681
Ensembl chr10:69,701,618...69,702,443
Ensembl chr10:69,701,618...69,702,443 		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 chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225 		JBrowse link
G Uqcc4 ubiquinol-cytochrome c reductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,202,217...14,203,519
Ensembl chr10:14,202,243...14,204,029 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357 		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 chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		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 chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864 		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 chr10:14,864,672...14,881,285
Ensembl chr10:14,864,670...14,881,292 		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 chr10:14,896,442...14,898,770
Ensembl chr10:14,896,378...14,899,863 		JBrowse link
G Zfp13 zinc finger protein 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,615,470...12,623,615
Ensembl chr10:12,615,190...12,623,615 		JBrowse link
G Zfp174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,666,580...11,676,328
Ensembl chr10:11,669,913...11,676,312 		JBrowse link
G Zfp213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,592,368...12,599,296
Ensembl chr10:12,592,368...12,599,281 		JBrowse link
G Zfp263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,764,424...11,774,330
Ensembl chr10:11,764,427...11,771,235 		JBrowse link
G Zfp597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,653,169...11,658,843
Ensembl chr10:11,653,127...11,660,675 		JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,694,224...13,706,235
Ensembl chr10:13,694,286...13,706,233 		JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,970,888...12,984,170
Ensembl chr10:12,979,020...12,983,572 		JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,636,302...12,646,275
Ensembl chr10:12,636,302...12,646,275 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      asphyxiating thoracic dystrophy 227
        Beemer-Langer syndrome 6
        Saldino-Noonan syndrome 1
        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 15
        asphyxiating thoracic dystrophy 2 1
        asphyxiating thoracic dystrophy 3 9
        asphyxiating thoracic dystrophy 4 1
        asphyxiating thoracic dystrophy 5 1
        short-rib thoracic dysplasia 10 with or without polydactyly 4
        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 15
        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 159
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      musculoskeletal system disease 8193
        connective tissue disease 5724
          bone disease 4226
            bone development disease 2299
              osteochondrodysplasia 841
                asphyxiating thoracic dystrophy 227
                  Beemer-Langer syndrome 6
                  Saldino-Noonan syndrome 1
                  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 15
                  asphyxiating thoracic dystrophy 2 1
                  asphyxiating thoracic dystrophy 3 9
                  asphyxiating thoracic dystrophy 4 1
                  asphyxiating thoracic dystrophy 5 1
                  short-rib thoracic dysplasia 10 with or without polydactyly 4
                  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 15
                  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 159
paths to the root