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osteochondrodysplasia - Ontology Report - Rat Genome Database

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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:osteochondrodysplasia
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Accession:DOID:2256 term browser browse the term
Definition:A bone development disease that results_in defective development of cartilage or bone. (DO)
Synonyms:exact_synonym: Late Spondyloepiphyseal Dysplasia;   Multiple Epiphyseal Dysplasia;   SJA syndrome;   SOST sclerosing bone dysplasia;   cartilage development disorder;   chondrodystrophic myotonia;   chondrodystrophy;   congenital anomaly of cartilage;   dyschondroplasia;   dyschondroplasias;   late onset spondyloepiphyseal dysplasia;   myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities;   osteochondrodysplasia syndrome;   osteochondrodysplasias;   skeletal dysplasia;   spondylo-epimetaphyseal dysplasia with myotonia
 narrow_synonym: chondrodysplasia;   chondrodysplasia, disproportionate short-limbed
 broad_synonym: TRIP11-related condition
 primary_id: MESH:D010009
 alt_id: OMIA:000187;   OMIA:001315;   OMIA:001886
 xref: EFO:0005571;   GARD:6051;   ICD10CM:Q78.9;   ICD9CM:756.4;   MONDO:0005516;   NCI:C34466;   NCI:C84978
For additional species annotation, visit the Alliance of Genome Resources.

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osteochondrodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO DNA:deletion:exon RGD PMID:7920633 RGD:11570525 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:3174660 PMID:10679946 PMID:24100244 PMID:25741868 PMID:28492532 More... NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Atf2 activating transcription factor 2 ISS OMIM:215050 MouseDO NCBI chr 3:79,125,814...79,202,896
Ensembl chr 3:58,718,332...58,795,236 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17954590 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO acromesomelic chondrodysplasia and genital anomalies, OMIM:609441, DNA:deletion:exon RGD PMID:15805157 RGD:1600593 NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
G Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 ISO ClinVar Annotator: match by term: Chondrodysplasia ClinVar NCBI chr 5:22,573,241...22,600,126
Ensembl chr 5:17,772,608...17,802,570 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Multiple epiphyseal dysplasia ClinVar PMID:28492532 PMID:28742282 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISS MouseDO NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Chst11 carbohydrate sulfotransferase 11 ISO ClinVar Annotator: match by term: Chondrodysplasia ClinVar PMID:29514872 NCBI chr 7:22,412,121...22,630,577
Ensembl chr 7:20,528,100...20,743,111 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 susceptibility ISO spondyloepiphyseal dysplasia, Omani type, OMIM:608637;DNA:missense mutation:p.R304Q
ClinVar Annotator: match by term: Skeletal dysplasia
ClinVar Annotator: match by term: Chondrodysplasia | ClinVar Annotator: match by term: Skeletal dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
RGD
CTD		 PMID:15215498 PMID:25741868 PMID:28492532 PMID:30200136 PMID:15215498 RGD:1600853, RGD:1600853 NCBI chr20:28,657,308...28,694,976
Ensembl chr20:28,114,404...28,121,807 		JBrowse link
G Col10a1 collagen type X alpha 1 chain susceptibility ISO Schmid metaphyseal chondrodysplasia, OMIM:156500;DNA:deletion mutations, missense mutation: :1856delC, 1992delCT, p.C591R RGD PMID:8004099 RGD:1600880 NCBI chr20:39,737,536...39,744,518
Ensembl chr20:38,182,494...38,189,494 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:19638309 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain susceptibility ISO otospondylomegaepiphyseal dysplasia, OMIM:215150;DNA:mutations RGD PMID:10677296 RGD:1600883 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:8364588 PMID:25741868 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Skeletal dysplasia
DNA:missense mutation:cds:p.R519C(human)
DNA:mutation:cds:p.G1170S(mouse)		 CTD
ClinVar
RGD		 PMID:8486375 PMID:25741868 PMID:15476249 PMID:24475193 RGD:11667106, RGD:11667103 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain susceptibility ISO DNA:mutation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11565064 PMID:16909383 PMID:11565064 RGD:1600949 NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain susceptibility ISO DNA:splice-site mutation RGD PMID:8528240 RGD:1600952 NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO multiple epiphyseal dysplasia, OMIM:600969, DNA:splice-site mutation RGD PMID:10090888 RGD:1600695 NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO pseudoachondroplasia, OMIM:177170, D472Y, C468Y, 1400-1402delTCA
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia
multiple epiphyseal dysplasia EDM1, OMIM:132400,D342Y		 ClinVar
RGD		 PMID:9021009 PMID:9463320 PMID:11565064 PMID:12483304 PMID:14684695 More... RGD:1600702, RGD:1600705 NCBI chr16:19,081,172...19,089,548
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
G Copb1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar NCBI chr 1:177,838,751...177,876,688
Ensembl chr 1:168,404,335...168,438,416 		JBrowse link
G Cops7b COP9 signalosome subunit 7B ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 NCBI chr 9:87,238,132...87,263,967
Ensembl chr 9:87,238,375...87,263,967 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:24767306 PMID:25741868 PMID:28492532 PMID:31944631 NCBI chr 2:185,747,548...185,758,512
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 NCBI chr  X:6,788,387...6,857,845
Ensembl chr  X:4,205,490...4,271,574 		JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:87,356,457...87,736,616 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11146471 NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:83,562,014...83,569,750 		JBrowse link
G Dusp21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 NCBI chr  X:7,070,910...7,071,766
Ensembl chr  X:4,488,021...4,488,877 		JBrowse link
G Dym dymeclin ISO RGD PMID:12491225 RGD:1598787 NCBI chr18:70,879,835...71,176,006
Ensembl chr18:68,605,185...68,900,903 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Flna filamin A ISO Melnick-Needles syndrome;DNA:missense mutations:cds:p.A1188T, p.S1199L (human)
associated with Periventricular Nodular Heterotopia;DNA:missense mutation:cds:p.G208R (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12612583 PMID:12612583 PMID:25755106 RGD:1598954, RGD:11565455 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Flnb filamin B ISO atelosteogenesis type I,OMIM:108720;DNA:point mutation:exon:A173V
DNA:missense, deletion mutations:exons:		 RGD PMID:14991055 PMID:16752402 RGD:1601168, RGD:12791027 NCBI chr15:19,392,212...19,525,278
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17954590 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Fundc1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 NCBI chr  X:7,666,787...7,683,443
Ensembl chr  X:5,083,617...5,100,284 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:1522213 PMID:9298823 PMID:20574428 PMID:22521955 PMID:23137060 More... NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Chondrodysplasia ClinVar NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Glb1 galactosidase, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:817853 NCBI chr 8:122,963,718...123,036,326
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Golgb1 golgin B1 IAGP DNA:frameshift mutation:exon 13: (rat) RGD PMID:21851869 RGD:40902994 NCBI chr11:77,348,573...77,406,165
Ensembl chr11:63,843,986...63,900,770 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35253374 NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:81,342,528...81,346,232 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 susceptibility ISO Schwartz-Jampel syndrome, OMIM:255800;DNA:missense mutations, splice-site mutations
ClinVar Annotator: match by term: Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10545953 PMID:11279527 PMID:25741868 PMID:28492532 PMID:11101850 RGD:1624267 NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Dyschondroplasia ClinVar PMID:18772396 PMID:21446021 PMID:25043048 PMID:25741868 PMID:36201590 NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Dyschondroplasia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Itga10 integrin subunit alpha 10 ISO Chondrodysplasia, disproportionate short-limbed, ITGA10-related' OMIA PMID:7081383 PMID:24086591 PMID:27525650 PMID:37582787 NCBI chr 2:186,871,711...186,891,012
Ensembl chr 2:184,182,869...184,202,172 		JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 NCBI chr  X:6,920,374...7,060,027
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17954590 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Lifr LIF receptor subunit alpha ISO Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, OMIM:151443 RGD PMID:14740318 RGD:1600614 NCBI chr 2:57,951,787...58,020,357
Ensembl chr 2:56,250,120...56,286,699 		JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Multiple epiphyseal dysplasia ClinVar
RGD		 PMID:11479597 PMID:14729835 PMID:15459972 PMID:15948199 PMID:16199550 More... RGD:1599920, RGD:1599919 NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
G Mir140 microRNA 140 ISS MouseDO NCBI chr19:52,375,293...52,375,391
Ensembl chr19:35,465,577...35,465,675 		JBrowse link
G Nppc natriuretic peptide C ISS
ISO		 ClinVar Annotator: match by term: Skeletal dysplasia MouseDO
ClinVar		 PMID:25741868 NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:87,320,051...87,324,251 		JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr19:51,020,596...51,071,401
Ensembl chr19:34,110,747...34,162,577 		JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:18832389 RGD:12859038 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Pth1r parathyroid hormone 1 receptor susceptibility ISO DNA:missense mutations:exon; metaphyseal chondrodysplasia, OMIM:156400
ClinVar Annotator: match by term: Chondrodysplasia		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:8703170 RGD:1599978 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
G Rnf146 ring finger protein 146 ISS MouseDO NCBI chr 1:30,286,680...30,304,367
Ensembl chr 1:28,458,887...28,475,923 		JBrowse link
G Ryr1 ryanodine receptor 1 IEP mRNA,protein:increased expression:cartilage RGD PMID:32619649 RGD:329845531 NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO DNA:mutation
ClinVar Annotator: match by term: Osteochondrodysplasia		 ClinVar
RGD		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... RGD:1600010 NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 susceptibility ISO Camurati-Engelmann Syndrome, OMIM:131300;DNA:missense mutations: :p.R218H, p.R218C, p.C225R (human) RGD PMID:10973241 RGD:1601550 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 IEP RGD PMID:17366323 RGD:2302024 NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 IMP RGD PMID:17366323 RGD:2302024 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:207,082,014...207,099,014
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Skeletal dysplasia ClinVar PMID:25741868 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:31,617,107...31,647,035
Ensembl chr  X:27,994,054...28,015,346 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: TRIP11-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:126,760,263...126,832,619
Ensembl chr 6:120,998,733...121,067,781 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO trichorhinophalangeal syndrome type I, OMIM:190350 RGD PMID:10615131 RGD:1599670 NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:81,921,601...82,141,905 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Skeletal dysplasia		 CTD
ClinVar		 PMID:6628444 PMID:10463355 PMID:12884428 PMID:14755468 PMID:17879966 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: therapeutic CTD PMID:24235232 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Dyschondroplasia ClinVar PMID:9829912 PMID:10612827 PMID:11257211 PMID:12202531 PMID:15300849 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
acheiropody term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO
ISS		 ClinVar Annotator: match by term: Acheiropodia
OMIM:200500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:11090342 PMID:24965254 PMID:25741868 PMID:33863876 NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:5,974,750...6,146,368 		JBrowse link
achondrogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Achondrogenesis ClinVar NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Achondrogenesis ClinVar NCBI chr 6:126,760,263...126,832,619
Ensembl chr 6:120,998,733...121,067,781 		JBrowse link
achondrogenesis type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb2 ankyrin repeat and SOCS box-containing 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,239,550...128,275,833
Ensembl chr 6:122,474,756...122,510,854 		JBrowse link
G Atxn3 ataxin 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:126,837,107...126,872,919
Ensembl chr 6:121,074,448...121,107,902 		JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,685,185...127,774,947
Ensembl chr 6:121,923,023...121,972,405 		JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,217,191...125,227,855
Ensembl chr 6:119,487,621...119,498,227 		JBrowse link
G Catsperb cation channel sperm associated auxiliary subunit beta ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:126,148,156...126,526,814
Ensembl chr 6:120,418,609...120,707,182 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,899,337...126,019,162
Ensembl chr 6:120,169,738...120,289,555 		JBrowse link
G Chga chromogranin A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,460,895...127,472,238
Ensembl chr 6:121,696,051...121,707,398 		JBrowse link
G Cox8c cytochrome c oxidase subunit 8C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,793,379...127,794,702
Ensembl chr 6:122,028,566...122,029,889 		JBrowse link
G Cpsf2 cleavage and polyadenylation specific factor 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:126,885,417...126,917,634
Ensembl chr 6:121,120,569...121,151,921 		JBrowse link
G Ddx24 DEAD-box helicase 24 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,329,554...128,346,818
Ensembl chr 6:122,564,767...122,581,927 		JBrowse link
G Dglucy D-glutamate cyclase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,785,075...125,860,496
Ensembl chr 6:120,055,460...120,130,910 		JBrowse link
G Fam181a family with sequence similarity 181, member A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,230,171...128,236,193
Ensembl chr 6:122,465,391...122,471,397 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:126,664,100...126,742,847
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
G Golga5 golgin A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,377,244...127,405,404
Ensembl chr 6:121,612,529...121,640,413 		JBrowse link
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,647,389...127,663,276
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,865,205...125,895,674
Ensembl chr 6:120,135,436...120,166,089 		JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,355,312...128,361,783
Ensembl chr 6:122,590,472...122,779,294 		JBrowse link
G Ifi27l2a interferon, alpha-inducible protein 27 like 2A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,363,658...128,365,144
Ensembl chr 6:122,598,872...122,600,360 		JBrowse link
G Itpk1 inositol-tetrakisphosphate 1-kinase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,475,589...127,609,320
Ensembl chr 6:121,710,755...121,844,107 		JBrowse link
G Kcnk13 potassium two pore domain channel subfamily K member 13 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:124,970,363...125,074,919
Ensembl chr 6:119,242,188...119,345,240 		JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,308,913...127,347,355
Ensembl chr 6:121,544,053...121,582,480 		JBrowse link
G Lyset lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,649,401...127,651,143
Ensembl chr 6:121,884,643...121,886,275 		JBrowse link
G Moap1 modulator of apoptosis 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,647,389...127,649,324
Ensembl chr 6:121,882,366...121,898,643
Ensembl chr17:121,882,366...121,898,643 		JBrowse link
G Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:126,880,537...126,888,935 JBrowse link
G Nrde2 NRDE-2, necessary for RNA interference, domain containing ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,137,121...125,177,689
Ensembl chr 6:119,404,334...119,448,915 		JBrowse link
G Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,309,863...128,328,444
Ensembl chr 6:122,545,061...122,563,644 		JBrowse link
G Ppp4r3a protein phosphatase 4, regulatory subunit 3A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:126,032,068...126,098,329
Ensembl chr 6:120,302,511...120,365,891 		JBrowse link
G Ppp4r4 protein phosphatase 4, regulatory subunit 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,427,884...128,518,776
Ensembl chr 6:122,663,344...122,753,384 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,094,686...128,155,592
Ensembl chr 6:122,338,370...122,389,921 		JBrowse link
G Psmc1 proteasome 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,122,497...125,134,859
Ensembl chr 6:119,392,855...119,410,123 		JBrowse link
G Rin3 Ras and Rab interactor 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,196,648...127,305,821
Ensembl chr 6:121,431,339...121,540,957 		JBrowse link
G Rps6ka5 ribosomal protein S6 kinase A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,558,434...125,736,576
Ensembl chr 6:119,828,846...120,006,224 		JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,520,894...128,529,332
Ensembl chr 6:122,756,108...122,764,544 		JBrowse link
G Serpina1f serpin family A member 1F ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,585,697...128,591,902
Ensembl chr 6:122,820,907...122,827,112 		JBrowse link
G Serpina6 serpin family A member 6 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,544,828...128,555,064
Ensembl chr 6:122,780,043...122,790,349 		JBrowse link
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,044,470...127,184,684
Ensembl chr 6:121,280,031...121,414,949 		JBrowse link
G Tc2n tandem C2 domains, nuclear ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:126,526,006...126,622,163
Ensembl chr 6:120,761,119...120,849,326 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:124,892,821...124,960,646
Ensembl chr 6:119,163,166...119,231,021 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO
ISS		 ClinVar Annotator: match by term: Achondrogenesis Houston-Harris type | ClinVar Annotator: match by term: Achondrogenesis type 1A | ClinVar Annotator: match by term: Achondrogenesis, type IA
OMIM:200600
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 6:126,760,263...126,832,619
Ensembl chr 6:120,998,733...121,067,781 		JBrowse link
G Ttc7b tetratricopeptide repeat domain 7B ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,317,011...125,528,843
Ensembl chr 6:119,587,390...119,799,330 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,663,454...127,683,302
Ensembl chr 6:121,898,623...121,918,477 		JBrowse link
G Unc79 unc-79 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,841,671...128,092,380
Ensembl chr 6:122,080,308...122,327,591 		JBrowse link
achondrogenesis type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:		 OMIM
ClinVar
CTD
RGD		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... RGD:11068488 NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
achondrogenesis type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta
OMIM:200610
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1429602 PMID:7550321 PMID:7695699 PMID:7741714 PMID:7752132 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
achondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISS OMIM:100800 MouseDO NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO ClinVar Annotator: match by term: Achondroplasia ClinVar PMID:25741868 NCBI chr10:86,011,504...86,018,063
Ensembl chr10:85,511,160...85,517,720 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Achondroplasia ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:25741868 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 severity ISO
ISS		 DNA:missense mutation:cds:p.G380R (human)
ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome
OMIM:100800
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.K650M(human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:1598937, RGD:11568054 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Nppc natriuretic peptide C ISS OMIM:100800 MouseDO NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:87,320,051...87,324,251 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO
ISS		 DNA:missense mutation:cds:p.L885R (mouse)
OMIM:100800		 MouseDO
RGD		 PMID:15722353 RGD:1580771 NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISS OMIM:100800 MouseDO NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:180,188,792...180,199,847 		JBrowse link
G Spred2 sprouty-related, EVH1 domain containing 2 ISS OMIM:100800 MouseDO NCBI chr14:98,350,577...98,452,143
Ensembl chr14:94,148,837...94,249,162 		JBrowse link
Achondroplastic Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Achondroplastic dwarfism ClinVar PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
acrocapitofemoral dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ihh Indian hedgehog signaling molecule ISO DNA:point mutations:CDS:p.P46L (137C>T), p.V190A (T569T>C) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrocapitofemoral dysplasia		 CTD
ClinVar
OMIM
RGD		 PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144 More... RGD:1600033 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
acrodysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Acrodysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:95,136,799...95,197,176
Ensembl chr10:94,642,850...94,697,672 		JBrowse link
G Pde4d phosphodiesterase 4D ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrodysostosis		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 2:41,748,337...43,262,567
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrodysostosis | ClinVar Annotator: match by term: Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome
OMIM:101800 | OMIM:614613		 CTD
ClinVar
MouseDO		 PMID:11115848 PMID:15371594 PMID:18241045 PMID:19293268 PMID:21651393 More... NCBI chr10:95,120,537...95,139,028
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
Acrodysostosis 1, with or without Hormone Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance ClinVar NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance OMIM
ClinVar		 PMID:11115848 PMID:11200992 PMID:15371594 PMID:18241045 PMID:19293268 More... NCBI chr10:95,120,537...95,139,028
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance ClinVar NCBI chr10:95,042,451...95,079,679
Ensembl chr10:94,542,946...94,579,846 		JBrowse link
Acrodysostosis 2, with or without Hormone Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Depdc1b DEP domain containing 1B ISO ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance ClinVar PMID:21681106 PMID:24203977 NCBI chr 2:41,605,686...41,697,207
Ensembl chr 2:39,891,481...39,963,779 		JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance | ClinVar Annotator: match by term: PDE4D-related condition OMIM
ClinVar		 PMID:11200992 PMID:12121997 PMID:15025561 PMID:21681106 PMID:22464250 More... NCBI chr 2:41,748,337...43,262,567
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
acromesomelic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Acromesomelic dwarfism | ClinVar Annotator: match by term: Acromesomelic dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
acromesomelic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
acromesomelic dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkg2 protein kinase cGMP-dependent 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 4 | ClinVar Annotator: match by term: PRKG2-related condition OMIM
ClinVar		 PMID:25741868 PMID:33106379 PMID:34782440 NCBI chr14:10,864,020...10,972,617
Ensembl chr14:10,559,882...10,666,888 		JBrowse link
acromesomelic dysplasia, Grebe type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO
ISS		 OMIM:200700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 2A | ClinVar Annotator: match by term: Grebe syndrome
DNA:missense mutation:cds:c.1285T>C (p.C429R)(human)
DNA:missense mutation:cds:c.527T>C(p.L176P)(human)
DNA:insertion mutation:cds:1114insGAGT(human)		 OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 More... RGD:12487346, RGD:12437083, RGD:12437075 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type ClinVar PMID:29322508 NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO
ISS		 ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type
OMIM:201250		 OMIM
ClinVar
MouseDO		 PMID:2703235 PMID:8589725 PMID:17384641 PMID:18203755 PMID:25741868 More... NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,035,165...61,040,683
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:60,968,495...60,982,618
Ensembl chr 5:56,172,519...56,186,642 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,548,300...62,551,870
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,685,511...61,692,821
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,056,654...62,070,338
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:60,731,601...60,778,456
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:60,864,476...60,877,059
Ensembl chr 5:56,068,494...56,081,075 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:63,002,427...63,004,314
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,493,155...62,500,779
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:60,877,369...60,894,512
Ensembl chr 5:56,081,343...56,098,529 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,471,246...62,477,812
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:63,022,046...63,059,223
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,619,326...61,657,359
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,256,353...61,278,155
Ensembl chr 5:56,461,006...56,482,456 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,676,950...61,684,958
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:60,638,404...60,649,315
Ensembl chr 5:55,842,426...55,853,967 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,972,637...61,981,887
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,596,860...61,598,657
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,475,185...61,525,749
Ensembl chr 5:56,680,613...56,729,924 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,706,118...62,715,339
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:64,092,709...64,139,054
Ensembl chr 5:59,297,045...59,343,348 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:64,238,730...64,340,778
Ensembl chr 5:59,443,076...59,545,080 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,966,163...62,998,016
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,700,383...62,702,638
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,778,112...62,778,954
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,357,078...61,423,882
Ensembl chr 5:56,561,154...56,628,025 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:63,336,151...63,396,254
Ensembl chr 5:58,540,449...58,600,937 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,634,721...62,635,771
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:56,648,643...56,664,440 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,055,863...61,083,249
Ensembl chr 5:56,260,830...56,270,336 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO
ISS		 ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dwarfism Maroteux type | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: ST. HELENA DYSPLASIA
OMIM:602875
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 More... NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,424,176...61,439,018
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,876,908...62,877,867
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,757,159...62,758,097
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:63,554,784...63,741,380
Ensembl chr 5:58,765,036...58,944,326 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,939,261...61,966,879
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369 		JBrowse link
G Prss3 serine protease 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:71,169,749...71,173,223
Ensembl chr 4:70,203,088...70,206,562 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,898,717...62,965,274
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,630,253...62,638,872
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:55,321,235...55,370,819 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:63,154,507...63,263,138
Ensembl chr 5:58,361,976...58,467,446 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,674,299...61,675,844
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,536,003...62,538,230
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Smu1 SMU1, DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: ST. HELENA DYSPLASIA ClinVar PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 More... NCBI chr 5:62,697,451...62,699,664
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,861,587...61,867,724
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,995,800...61,999,889
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,462,070...61,474,832
Ensembl chr 5:56,666,058...56,678,923 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,052,042...62,055,639
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,487,763...62,493,492
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:60,408,587...60,411,841
Ensembl chr 5:55,612,568...55,615,828 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,715,238...62,744,187
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:64,158,026...64,160,857
Ensembl chr 5:59,362,240...59,365,269 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:64,344,491...64,368,175
Ensembl chr 5:59,548,869...59,572,526 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,316,650...61,357,077
Ensembl chr 5:56,520,743...56,561,152 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,144,182...61,233,355
Ensembl chr 5:56,348,246...56,437,049 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:61,082,552...61,141,099
Ensembl chr 5:56,286,725...56,345,513 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:63,787,292...63,968,960
Ensembl chr 5:58,993,290...59,173,300 		JBrowse link
acromicric dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS-like 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Geleophysic dwarfism		 CTD
ClinVar		 PMID:18677313 PMID:24014090 PMID:25741868 PMID:26879370 PMID:33369194 More... NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia
ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia | ClinVar Annotator: match by term: Geleophysic dwarfism
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:627879 PMID:948948 PMID:960337 PMID:1852206 PMID:2005308 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr18:72,124,792...72,193,345
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia ClinVar PMID:18382993 PMID:25348816 PMID:25741868 PMID:28492532 NCBI chr13:96,071,058...96,095,709
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
anauxetic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,548,300...62,551,870
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,685,511...61,692,821
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,056,654...62,070,338
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:63,002,427...63,004,314
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,493,155...62,500,779
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,471,246...62,477,812
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:63,022,046...63,059,223
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,619,326...61,657,359
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,676,950...61,684,958
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,972,637...61,981,887
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,596,860...61,598,657
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,475,185...61,525,749
Ensembl chr 5:56,680,613...56,729,924 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,706,118...62,715,339
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,966,163...62,998,016
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,700,383...62,702,638
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,778,112...62,778,954
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,634,721...62,635,771
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:56,648,643...56,664,440 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,876,908...62,877,867
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,757,159...62,758,097
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,939,261...61,966,879
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,898,717...62,965,274
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,630,253...62,638,872
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,674,299...61,675,844
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,536,003...62,538,230
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Spaar small regulatory polypeptide of amino acid response ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,985,423...57,987,482 JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,697,451...62,699,664
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,861,587...61,867,724
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31f3 SPATA31 subfamily F member 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,087,305...57,093,191
Ensembl chr 5:57,087,320...57,093,164 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,995,800...61,999,889
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:61,462,070...61,474,832
Ensembl chr 5:56,666,058...56,678,923 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,052,042...62,055,639
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,487,763...62,493,492
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,715,238...62,744,187
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
anauxetic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type ClinVar PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141 		JBrowse link
anauxetic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition OMIM
ClinVar		 PMID:21455487 PMID:21534943 PMID:25741868 PMID:27380734 PMID:28067412 More... NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141 		JBrowse link
anauxetic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtpbp8 GTP binding protein 8 ISO ClinVar Annotator: match by term: NEPRO-related condition ClinVar NCBI chr11:55,945,778...55,955,743
Ensembl chr11:55,945,795...55,955,635 		JBrowse link
G Nepro nucleolus and neural progenitor protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia 3 | ClinVar Annotator: match by term: NEPRO-related condition OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:28492532 PMID:29620724 PMID:31250547 NCBI chr11:69,464,263...69,476,429
Ensembl chr11:55,958,267...55,970,432 		JBrowse link
asphyxiating thoracic dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D14Rikl RIKEN cDNA 4933427D14 gene like ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350 NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968 		JBrowse link
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 8:13,253,697...13,273,672
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 8:13,285,702...13,313,329
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 1:164,127,304...164,225,088
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 8:13,485,211...13,552,711
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 8:13,465,016...13,483,679
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 8:87,868,294...87,922,995
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 7:130,977,561...131,006,627
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 3:70,906,587...71,102,596
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 8:12,697,160...12,718,242
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
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
DNA:missense mutations:cds:multiple(human)		 CTD
ClinVar
RGD		 PMID:3442652 PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 More... RGD:11072153 NCBI chr 8:12,473,955...12,697,075
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:25741868 PMID:28492532 PMID:29068549 More... NCBI chr 3:33,703,882...33,719,960
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...10,025,355
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 chr11:81,864,195...81,872,555
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:16199547 PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 More... NCBI chr14:77,591,581...77,679,286
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:8640234 PMID:8858131 PMID:9438390 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		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 chr13:105,117,402...105,139,780
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 1:104,515,782...104,524,591
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 3:71,150,559...71,187,321
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 1:211,010,259...211,031,013
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 chr10:14,537,134...14,624,926
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Ift172 intraflagellar transport 172 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860 		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 chr 7:111,619,145...111,635,129
Ensembl chr 7:109,738,622...109,754,416 		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 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 3:172,091,591...172,116,497
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 5:114,576,106...114,679,581
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 2:155,455,773...155,550,082
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:3196484 PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chr12:39,618,559...39,697,971
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 chr15:35,685,678...35,786,875
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 2:125,528,965...125,613,295
Ensembl chr 2:123,609,807...123,682,676 		JBrowse link
G Kiaa0586 KIAA0586 homolog 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 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 chr13:96,071,058...96,095,709
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:37,467,729...37,487,776
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 8:12,943,453...12,963,966
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 8:12,974,707...12,982,613
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 8:12,866,652...12,876,554
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 8:12,782,829...12,793,108
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 8:13,074,279...13,114,894
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 8:13,030,752...13,040,671
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 8:12,925,267...12,938,828
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 8:13,133,043...13,140,761
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 8:13,008,873...13,018,729
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:25741868 More... RGD:11072153, RGD:11069733 NCBI chr16:34,009,092...34,137,418
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G Rab34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Jeune's syndrome ClinVar PMID:25741868 PMID:37619988 NCBI chr10:63,581,542...63,585,608
Ensembl chr10:63,083,338...63,087,538 		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 3:71,360,840...71,479,870
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 3:70,710,862...70,845,569
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 3:70,554,496...70,666,198
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 3:71,553,185...71,701,377
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 SNF2 related chromatin remodeling ATPase with DExD box 1 ISS MouseDO NCBI chr 4:95,639,722...95,709,055
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 3:33,639,020...33,703,890
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 8:13,206,907...13,237,069
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:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549 NCBI chr 9:99,521,176...99,557,966
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 8:14,044,216...14,148,808
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 | ClinVar Annotator: match by term: Thoracic pelvic phalangeal dystrophy		 CTD
ClinVar		 PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 More... NCBI chr 3:71,269,425...71,343,936
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 chr14:43,396,130...43,460,012
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: 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 8:13,380,551...13,451,640
Ensembl chr 8:5,095,722...5,167,010 		JBrowse link
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name Qualifiers 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 6:15,717,936...15,743,376
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 3:70,906,587...71,102,596
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: 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 chr 8:12,473,955...12,697,075
Ensembl chr 8:4,189,257...4,412,183 		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 chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719 		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...10,025,355
Ensembl chr 6:9,992,541...10,025,336 		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 chr14:77,591,581...77,679,286
Ensembl chr14:73,367,963...73,454,516 		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 3:71,150,559...71,187,321
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Ift140 intraflagellar transport 140 ISS
ISO		 OMIM:208500
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly		 MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,032,648...14,120,433 		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 chr 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860 		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 chr 2:155,455,773...155,550,082
Ensembl chr 2:153,145,795...153,240,024 		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 chr13:96,071,058...96,095,709
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 chr16:34,009,092...34,137,418
Ensembl chr16:28,998,231...29,117,723 		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 chr10:63,581,542...63,585,608
Ensembl chr10:63,083,338...63,087,538 		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 3:71,360,840...71,479,870
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 3:70,710,862...70,845,569
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 3:70,554,496...70,666,198
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 3:71,553,185...71,701,377
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 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift80 intraflagellar transport 80 ISO
ISS		 ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY
OMIM:611263
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 2:155,455,773...155,550,082
Ensembl chr 2:153,145,795...153,240,024 		JBrowse link
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name Qualifiers 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: Short-rib polydactyly syndrome type I ClinVar PMID:19442771 PMID:23456818 PMID:25741868 PMID:28492532 NCBI chr10:13,886,948...13,944,286
Ensembl chr10:13,382,540...13,439,745 		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 chr 1:192,533,460...192,557,281
Ensembl chr 1:183,102,871...183,126,858 		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 chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO
ISS		 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:613091
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3442652 PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 8:12,473,955...12,697,075
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 Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly 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 3:33,703,882...33,719,960
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 PMID:25741868 NCBI chr11:81,864,195...81,872,555
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 2:155,455,773...155,550,082
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 5:61,357,078...61,423,882
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 Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar PMID:21211617 PMID:25741868 NCBI chr16:34,009,092...34,137,418
Ensembl chr16:28,998,231...29,117,723 		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 chr 1:95,481,298...95,491,211
Ensembl chr 1:86,353,917...86,363,739 		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 Qualifiers 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 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name Qualifiers 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 chr14:43,396,130...43,460,012
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
atelosteogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Atelosteogenesis ClinVar NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
Atelosteogenesis Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14991055 PMID:16752402 PMID:20301736 PMID:22190451 PMID:24624349 More... NCBI chr15:19,392,212...19,525,278
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
Atelosteogenesis Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1
ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III OMIM
ClinVar		 PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr15:19,392,212...19,525,278
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
autosomal dominant craniodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17853455 PMID:21221996 PMID:25741868 NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561 		JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... RGD:734571 NCBI chr 2:79,883,350...80,011,222
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chr 2:80,021,381...80,046,898
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 ClinVar PMID:25741868 NCBI chr 5:158,993,073...159,005,618
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 More... NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO
ISS		 ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2
OMIM:166600		 OMIM
ClinVar
MouseDO		 PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 More... NCBI chr10:14,656,261...14,681,632
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
Autosomal Dominant Osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 OMIM
ClinVar		 PMID:17997709 PMID:25741868 NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412 		JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
autosomal recessive osteopetrosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc154 coiled-coil domain containing 154 ISS OMIM:259700 MouseDO NCBI chr10:14,681,938...14,691,757
Ensembl chr10:14,177,278...14,187,253 		JBrowse link
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 ClinVar PMID:35342016 PMID:36195244 NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO
ISS		 DNA:deletions, snps:exons:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: Marble bones autosomal recessive | ClinVar Annotator: match by term: TCIRG1-related condition
OMIM:259700
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 More... RGD:1599350 NCBI chr 1:210,556,270...210,568,021
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
autosomal recessive osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfsf11 TNF superfamily member 11 ISO
ISS		 OMIM:259710
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor | ClinVar Annotator: match by term: TNFSF11-related condition		 OMIM
MouseDO
ClinVar		 PMID:17632511 PMID:20499338 PMID:21541994 PMID:23762088 PMID:25741868 More... NCBI chr15:60,083,008...60,114,479
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO
ISS		 ClinVar Annotator: match by term: CA2-related condition | ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
OMIM:259730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
autosomal recessive osteopetrosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2
OMIM:611490
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1516225 PMID:11207362 PMID:11468688 PMID:11741829 PMID:12929941 More... NCBI chr10:14,656,261...14,681,632
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
autosomal recessive osteopetrosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: OSTM1-related condition
OMIM:259720
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12627228 PMID:15108279 PMID:16813530 PMID:25741868 PMID:28492532 More... NCBI chr20:47,653,696...47,769,248
Ensembl chr20:46,153,075...46,187,023 		JBrowse link
autosomal recessive osteopetrosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO
ISS		 OMIM:611497
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6		 OMIM
MouseDO
CTD
ClinVar		 PMID:17404618 PMID:25741868 NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412 		JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chr13:22,442,930...22,501,257
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
autosomal recessive osteopetrosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx10 sorting nexin 10 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 | ClinVar Annotator: match by term: SNX10-related condition
OMIM:615085		 OMIM
ClinVar
MouseDO		 PMID:22499339 PMID:23123320 PMID:23280965 PMID:25212774 PMID:25590979 More... NCBI chr 4:81,943,262...82,007,667
Ensembl chr 4:80,612,669...80,676,996 		JBrowse link
Autosomal Recessive Osteopetrosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9 OMIM
ClinVar		 PMID:25741868 PMID:34668226 NCBI chr 4:11,628,860...11,646,961
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
autosomal recessive spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn6 cellular communication network factor 6 ISO ClinVar Annotator: match by term: Autosomal recessive spondyloepiphyseal dysplasia tarda ClinVar PMID:10471507 PMID:22791401 PMID:25741868 PMID:28492532 PMID:29258992 NCBI chr20:42,569,309...42,585,126
Ensembl chr20:42,569,309...42,585,126 		JBrowse link
axial spondylometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Axial SMD | ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia OMIM
ClinVar		 PMID:11702989 PMID:20503334 PMID:21910225 PMID:23105016 PMID:25741868 More... NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
Beemer-Langer syndrome term browser
Symbol Object Name Qualifiers 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 8:12,473,955...12,697,075
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 chr14:77,591,581...77,679,286
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 2:155,455,773...155,550,082
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 chr16:34,009,092...34,137,418
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 3:71,269,425...71,343,936
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 chr14:43,396,130...43,460,012
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
Beukes hip dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type ClinVar PMID:25741868 NCBI chr16:53,001,487...53,004,545
Ensembl chr16:46,268,443...46,271,963 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:53,023,623...53,048,176
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 More... NCBI chr16:53,004,590...53,023,640
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
Boomerang dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia		 OMIM
CTD
ClinVar		 PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532 NCBI chr15:19,392,212...19,525,278
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
brachyolmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25669657 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: Brachyolmia ClinVar PMID:22791835 PMID:23633440 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:239,867,597...239,952,614
Ensembl chr 1:230,454,426...230,539,331 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: BRACHYRACHIA | ClinVar Annotator: match by term: Brachyolmia | ClinVar Annotator: match by term: Brachyrachia ClinVar PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Brachyolmia Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type ClinVar PMID:4056805 PMID:6628444 PMID:8179305 PMID:12884428 PMID:14755468 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Brachyolmia Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Brachyolmia Type 3 | ClinVar Annotator: match by term: Brachyolmia autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO
ISS		 ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6
OMIM:601216
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533 		JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28150392 NCBI chr 8:131,479,340...131,550,209
Ensembl chr 8:122,601,897...122,672,750 		JBrowse link
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Brain abnormalities, neurodegeneration, and dysosteosclerosis OMIM
ClinVar		 PMID:8614507 PMID:22503135 PMID:23408870 PMID:24120500 PMID:24145216 More... NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Bruck syndrome ClinVar PMID:16199547 PMID:22689593 PMID:22949511 PMID:25741868 PMID:28492532 More... NCBI chr10:85,845,801...85,858,361
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO
ISS		 ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
OMIM:259450 | OMIM:609220		 ClinVar
MouseDO		 PMID:25086671 PMID:25741868 PMID:28492532 PMID:37076969 NCBI chr 8:101,964,318...102,047,022
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Bruck syndrome 1 ClinVar NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Arthrogryposis-like disorder | ClinVar Annotator: match by term: Bruck syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9129737 PMID:9481655 PMID:9536098 PMID:9927692 PMID:16199547 More... NCBI chr10:85,845,801...85,858,361
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Bruck syndrome 2 | ClinVar Annotator: match by term: PLOD2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 More... NCBI chr 8:101,964,318...102,047,022
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
Buschke-Ollendorff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Lemd3 LEM domain containing 3 no_association ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS
DNA:nonsense mutation:cds:c.2203C>T(human)
DNA:transversion mutation:intron: c.1921+1G>T(human)
DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human)		 OMIM
CTD
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553844, RGD:11553843, RGD:11553842, RGD:11553840 NCBI chr 7:58,300,556...58,389,485
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
Caffey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase ISO ClinVar Annotator: match by term: Infantile cortical hyperostosis ClinVar PMID:20971946 PMID:28492532 NCBI chr 7:116,248,571...116,272,917
Ensembl chr 7:114,368,276...114,396,071 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:mutation:exon:3040C>T (human)
ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:c.3040C>T(p.R836C)(human)		 ClinVar
CTD
OMIM
RGD		 PMID:1770532 PMID:2037280 PMID:2542316 PMID:2794057 PMID:2894346 More... RGD:5688296, RGD:11667069 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
calvarial doughnut lesions with bone fragility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgms2 sphingomyelin synthase 2 ISO ClinVar Annotator: match by term: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | ClinVar Annotator: match by term: Doughnut lesions of skull, familial | ClinVar Annotator: match by term: SGMS2-related condition OMIM
ClinVar		 PMID:19839042 PMID:25741868 PMID:28492532 PMID:30779713 PMID:32028018 NCBI chr 2:219,889,809...219,967,704
Ensembl chr 2:219,893,572...219,967,546 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: CDL ClinVar PMID:18414213 NCBI chr  X:24,582,732...24,627,462
Ensembl chr  X:21,103,282...21,148,056 		JBrowse link
campomelic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Camptomelic dysplasia ClinVar PMID:9002675 PMID:10213041 PMID:11371614 PMID:15060123 PMID:25983619 More... NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,060,821...96,071,445 		JBrowse link
G Sox9 SRY-box transcription factor 9 ISO
ISS		 ClinVar Annotator: match by term: Acampomelic campomelic dysplasia | ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Camptomelic dysplasia | ClinVar Annotator: match by term: SOX9-related condition
OMIM:114290
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More... NCBI chr10:98,305,744...98,311,250
Ensembl chr10:97,806,485...97,811,994 		JBrowse link
Campomelic Dysplasia with Autosomal Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal ClinVar PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More... NCBI chr10:98,305,744...98,311,250
Ensembl chr10:97,806,485...97,811,994 		JBrowse link
Camurati-Engelmann disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia ClinVar PMID:25741868 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Mitf melanocyte inducing transcription factor ISS OMIM:131300 | OMIM:606631 MouseDO NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Camurati-Engelmann Disease | ClinVar Annotator: match by term: Diaphyseal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10973241 PMID:11062463 PMID:11278244 PMID:11810278 PMID:12493741 More... NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE ClinVar PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chr 3:30,786,443...30,795,374
Ensembl chr 3:10,388,361...10,397,343 		JBrowse link
Carey-Fineman-Ziter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 OMIM
ClinVar		 PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 More... NCBI chr 3:30,786,443...30,795,374
Ensembl chr 3:10,388,361...10,397,343 		JBrowse link
Carey-Fineman-Ziter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymx myomixer, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 OMIM
ClinVar		 PMID:35642635 PMID:39668186 NCBI chr 9:22,894,524...22,895,701
Ensembl chr 9:15,397,144...15,398,263 		JBrowse link
cartilage-hair hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Cartilage-hair hypoplasia ClinVar PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | ClinVar Annotator: match by term: IARS2-related condition OMIM
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501 		JBrowse link
Catel Manzke syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME ClinVar PMID:25741868 PMID:31923704 PMID:33942433 NCBI chr 3:48,188,286...48,338,996
Ensembl chr 3:27,778,772...27,929,488 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: TGDS-related condition OMIM
ClinVar		 PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr15:101,581,765...101,602,779
Ensembl chr15:95,174,608...95,195,554 		JBrowse link
cherubism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:80,333,242...80,401,641
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,464,788...1,465,989
Ensembl chr14:1,319,868...1,321,013 		JBrowse link
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,329,073...1,360,781 JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,679,956...81,707,331
Ensembl chr14:77,455,696...77,482,821 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,203,380...1,217,536
Ensembl chr14:1,059,170...1,073,131 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:79,890,051...79,924,081
Ensembl chr14:75,666,744...75,699,386 		JBrowse link
G Fam193a family with sequence similarity 193, member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514 		JBrowse link
G Fam53a family with sequence similarity 53, member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:77,088,178...77,124,395
Ensembl chr14:77,090,723...77,124,395 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,154,275...1,166,334
Ensembl chr14:1,009,786...1,021,928 		JBrowse link
G Gak cyclin G associated kinase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,234,272...1,308,492
Ensembl chr14:1,089,866...1,216,398 		JBrowse link
G Grk4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:80,230,699...80,305,292
Ensembl chr14:76,006,218...76,080,693 		JBrowse link
G Haus3 HAUS augmin-like complex, subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:80,805,036...80,977,012
Ensembl chr14:76,580,546...76,752,463 		JBrowse link
G Hgfac HGF activator ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:79,932,219...79,938,773
Ensembl chr14:75,707,591...75,714,278 		JBrowse link
G Htt huntingtin ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:80,070,456...80,219,668
Ensembl chr14:75,845,836...75,995,070 		JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,175,994...1,203,913
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,167,268...81,206,776
Ensembl chr14:76,942,729...76,984,904 		JBrowse link
G Maea macrophage erythroblast attacher, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,581,784...81,615,246
Ensembl chr14:77,357,264...77,390,671 		JBrowse link
G Mfsd10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377 		JBrowse link
G Msantd1 Myb/SANT DNA binding domain containing 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183 		JBrowse link
G Mxd4 Max dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221 		JBrowse link
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411 		JBrowse link
G Nelfa negative elongation factor complex member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,808,920...76,832,998
Ensembl chr14:76,808,870...76,832,994 		JBrowse link
G Nicol1 NELL2 interacting cell ontogeny regulator 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,768,145...76,769,661
Ensembl chr14:76,768,146...76,773,575 		JBrowse link
G Nkx1-1 NK1 homeobox 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:77,296,676...77,300,575
Ensembl chr14:77,296,796...77,300,036 		JBrowse link
G Nop14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:80,305,912...80,327,053
Ensembl chr14:76,080,793...76,102,453 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,057,727...81,135,866
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G Pcgf3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,381,976...1,436,709
Ensembl chr14:1,233,947...1,291,793 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187 		JBrowse link
G Poln DNA polymerase nu ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 Ensembl chr14:76,580,546...76,752,463 JBrowse link
G Rgs12 regulator of G-protein signaling 12 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:79,940,561...80,048,637
Ensembl chr14:75,715,934...75,794,596 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 2:176,478,616...176,493,269
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rnf212 ring finger protein 212 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,090,752...1,132,242
Ensembl chr14:949,448...987,831 		JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:80,625,864...80,647,138
Ensembl chr14:76,401,299...76,422,566 		JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO
ISS		 ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw
OMIM:118400
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More... RGD:1599339 NCBI chr14:76,176,097...76,213,300
Ensembl chr14:76,176,101...76,213,251 		JBrowse link
G Slbp stem-loop histone mRNA binding protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,180,465...1,190,257
Ensembl chr14:1,040,243...1,045,849 		JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132 		JBrowse link
G Spon2 spondin 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,713,070...81,742,510
Ensembl chr14:77,511,901...77,517,996 		JBrowse link
G Tacc3 transforming, acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,275,755...81,289,894
Ensembl chr14:77,051,215...77,065,219 		JBrowse link
G Tmem129 transmembrane protein 129, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,289,852...81,295,416
Ensembl chr14:77,065,841...77,070,865 		JBrowse link
G Tmem175 transmembrane protein 175 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,217,911...1,234,236
Ensembl chr14:1,073,523...1,089,819 		JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:80,452,936...80,470,141
Ensembl chr14:76,228,371...76,275,265 		JBrowse link
G Uvssa UV-stimulated scaffold protein A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,535,179...81,576,444
Ensembl chr14:77,314,056...77,351,903 		JBrowse link
G Zfyve28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:80,692,997...80,778,606
Ensembl chr14:76,468,424...76,554,039 		JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr 8:119,617,077...119,623,215
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3975110 PMID:8445622 PMID:9268097 PMID:9536098 PMID:9649554 More... NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
chondrodysplasia punctata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsl arylsulfatase L susceptibility ISO RGD PMID:9409863 RGD:1599238 NCBI chr 2:119,038,803...119,047,579
Ensembl chr 2:119,038,921...119,046,846 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18176751 PMID:10391218 RGD:734908 NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
chondrodysplasia with joint dislocations gPAPP type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 ISO
ISS		 ClinVar Annotator: match by term: BPNT2-related condition | ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type
OMIM:614078		 OMIM
ClinVar
MouseDO		 PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 More... NCBI chr 5:22,573,241...22,600,126
Ensembl chr 5:17,772,608...17,802,570 		JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: HDAC6-related condition | ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type OMIM
ClinVar		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
chondrodysplasia-pseudohermaphroditism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hhat hedgehog acyltransferase ISO
ISS		 OMIM:600092
ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome | ClinVar Annotator: match by term: HHAT-related condition		 OMIM
MouseDO
ClinVar		 PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300 NCBI chr13:106,558,635...106,814,723
Ensembl chr13:104,010,916...104,282,893 		JBrowse link
cleidocranial dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO
ISS		 DNA:insertion, point mutation:exon:p.W283X (human)
ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial Dysplasia | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly
OMIM:119600 | OMIM:216330
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... RGD:1601649 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar PMID:33987976 NCBI chr 9:23,375,889...23,704,229
Ensembl chr 9:15,868,287...16,206,706 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:25209980 RGD:155641242 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
Cleidocranial Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbfb core-binding factor subunit beta ISO ClinVar Annotator: match by term: Cleidocranial dysplasia 2 OMIM
ClinVar		 PMID:25741868 PMID:36241386 NCBI chr19:49,955,133...50,002,661
Ensembl chr19:33,049,172...33,092,751 		JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: Cerebral, ocular, dental, auricular, and skeletal syndrome | ClinVar Annotator: match by term: LONP1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 More... NCBI chr 9:1,534,581...1,546,908
Ensembl chr 9:1,447,447...1,459,771 		JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features | ClinVar Annotator: match by term: Cole-Carpenter syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:106,335,300...106,346,911
Ensembl chr10:105,836,982...105,848,500 		JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:211,418,623...211,526,587 		JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 | ClinVar Annotator: match by term: P4HB-related condition OMIM
ClinVar		 PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 NCBI chr10:106,335,300...106,346,911
Ensembl chr10:105,836,982...105,848,500 		JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition OMIM
ClinVar		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:211,418,623...211,526,587 		JBrowse link
Collagenopathy, Type 2 Alpha 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Cartilage collagen ClinVar PMID:1905723 PMID:7695699 PMID:8218237 PMID:8423604 PMID:9016532 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:24033266 PMID:25741868 More... NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2363422 PMID:9536098 PMID:12786759 PMID:13524805 PMID:16470600 More... NCBI chr 8:28,939,984...28,946,639
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 OMIM
ClinVar		 PMID:1770532 PMID:2037280 PMID:2794057 PMID:2894346 PMID:7691343 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:10027910 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
Congenital Micromelic Dysplasia with Dislocation of Radius term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS ClinVar PMID:28492532 NCBI chr15:100,437,415...101,435,038
Ensembl chr15:94,029,884...95,024,006 		JBrowse link
CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Craniometadiaphyseal osteosclerosis with hip dysplasia OMIM
ClinVar		 PMID:25741868 PMID:37582359 NCBI chr10:15,667,894...15,720,092
Ensembl chr10:15,163,684...15,215,615 		JBrowse link
craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISS OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 MouseDO NCBI chr 2:79,883,350...80,011,222
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
craniotubular dysplasia Ikegawa type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem53 transmembrane protein 53 ISO
ISS		 ClinVar Annotator: match by term: Craniotubular dysplasia, Ikegawa type | ClinVar Annotator: match by term: TMEM53-related craniotubular dysplasia
OMIM:619727		 ClinVar
MouseDO
OMIM		 PMID:25741868 PMID:33824347 NCBI chr 5:135,958,344...135,974,258
Ensembl chr 5:130,721,659...130,737,692 		JBrowse link
Czech Dysplasia, Metatarsal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO DNA:missense mutation:cds:p.R275C (c.823C>T) (human)
ClinVar Annotator: match by term: Czech dysplasia, metatarsal type | ClinVar Annotator: match by term: Pseudorheumatoid dysplasia progressive, with hypoplastic toes | ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:7695699 PMID:7977371 PMID:8024616 PMID:8218237 PMID:8244341 More... RGD:8657344 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Desbuquois dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Desbuquois syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION
OMIM:251450 | OMIM:615777		 CTD
ClinVar
MouseDO		 PMID:19853239 PMID:25741868 PMID:28492532 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION		 CTD
ClinVar		 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783 		JBrowse link
Desbuquois Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr10:1,022,041...1,162,431
Ensembl chr10:531,812...655,114 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: CANT1-related condition | ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More... NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr10:1,221,294...1,243,144
Ensembl chr10:714,151...736,837 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr10:1,347,010...1,391,167
Ensembl chr10:839,788...883,869 		JBrowse link
G Nomo1 Nodal modulator 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr 1:105,641,867...105,692,708
Ensembl chr 1:96,505,484...96,556,279 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 More... NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783 		JBrowse link
Desbuquois Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2 OMIM
ClinVar		 PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783 		JBrowse link
diaphyseal medullary stenosis with malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtap methylthioadenosine phosphorylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY		 OMIM
CTD
ClinVar		 PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr 5:108,990,270...109,036,494
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
diastrophic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO
ISS		 ClinVar Annotator: match by term: Diastrophic dwarfism | ClinVar Annotator: match by term: Diastrophic dysplasia | ClinVar Annotator: match by term: Sulfate transporter-related osteochondrodysplasia
OMIM:222600
CTD Direct Evidence: marker/mechanism
DNA:deletion, insertion, missense mutations:promoter, cds:c.¿¿¿26 + 2T > C, p.R279W, 1045¿¿¿1047delGTT(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:702237 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 More... RGD:13208932, RGD:13208867 NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Diastrophic dysplasia, broad bone-platyspondylic variant ClinVar PMID:702237 PMID:8723083 PMID:10466420 PMID:12220459 PMID:20301524 NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
Dyggve-Melchior-Clausen disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:16199547 More... NCBI chr18:70,879,835...71,176,006
Ensembl chr18:68,605,185...68,900,903 		JBrowse link
Dysosteosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Dysosteosclerosis ClinVar PMID:25741868 PMID:28492532 PMID:33837634 NCBI chr20:29,191,086...29,228,299
Ensembl chr20:28,647,391...28,685,388 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:		 OMIM
ClinVar
CTD
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds:c.483_491del9 (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 More... RGD:11553863 NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
Eiken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome		 CTD
ClinVar
OMIM
RGD		 PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 More... RGD:12910707 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
Ellis-Van Creveld syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:80,333,242...80,401,641
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G Adra2c adrenoceptor alpha 2C ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:75,470,884...75,472,846
Ensembl chr14:75,471,143...75,472,846 		JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:21131972 PMID:23255504 PMID:24498942 PMID:25741868 PMID:28492532 More... NCBI chr 2:118,593,881...118,631,584
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Cytl1 cytokine like 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:77,278,635...77,283,645
Ensembl chr14:73,053,877...73,058,886 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:79,890,051...79,924,081
Ensembl chr14:75,666,744...75,699,386 		JBrowse link
G Evc EvC ciliary complex subunit 1 ISO
ISS		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ellis-van Creveld syndrome
OMIM:225500
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:c.1678G>T(human)
DNA:deletion:cds:c.731_757(human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7628126 PMID:7635486 PMID:9066272 PMID:9536098 PMID:10700162 More... RGD:1302823, RGD:155260290, RGD:155260285 NCBI chr14:77,680,901...77,722,608
Ensembl chr14:73,456,222...73,498,099 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 susceptibility ISO
ISS		 DNA:mutations
ClinVar Annotator: match by term: Ellis-van Creveld syndrome
OMIM:225500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7218275 PMID:9536098 PMID:12468274 PMID:12571802 PMID:16199547 More... RGD:1600212 NCBI chr14:77,591,581...77,679,286
Ensembl chr14:73,367,963...73,454,516 		JBrowse link
G Fam193a family with sequence similarity 193, member A ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514 		JBrowse link
G Grk4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:80,230,699...80,305,292
Ensembl chr14:76,006,218...76,080,693 		JBrowse link
G Haus3 HAUS augmin-like complex, subunit 3 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:80,805,036...80,977,012
Ensembl chr14:76,580,546...76,752,463 		JBrowse link
G Hgfac HGF activator ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:79,932,219...79,938,773
Ensembl chr14:75,707,591...75,714,278 		JBrowse link
G Htt huntingtin ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:80,070,456...80,219,668
Ensembl chr14:75,845,836...75,995,070 		JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:79,876,002...79,888,011
Ensembl chr14:75,651,376...75,665,414 		JBrowse link
G Lyar Ly1 antibody reactive ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:72,576,878...72,590,854
Ensembl chr14:72,576,879...72,590,612 		JBrowse link
G Mfsd10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377 		JBrowse link
G Msantd1 Myb/SANT DNA binding domain containing 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183 		JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:77,185,802...77,189,735
Ensembl chr14:72,961,148...72,964,966 		JBrowse link
G Mxd4 Max dimerization protein 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221 		JBrowse link
G Nop14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:80,305,912...80,327,053
Ensembl chr14:76,080,793...76,102,453 		JBrowse link
G Nsg1 neuronal vesicle trafficking associated 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:76,861,079...76,882,822
Ensembl chr14:72,648,741...72,670,514 		JBrowse link
G Otop1 otopetrin 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:76,717,330...76,744,785
Ensembl chr14:72,503,592...72,532,497 		JBrowse link
G Poln DNA polymerase nu ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... Ensembl chr14:76,580,546...76,752,463 JBrowse link
G Rgs12 regulator of G-protein signaling 12 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:79,940,561...80,048,637
Ensembl chr14:75,715,934...75,794,596 		JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:80,625,864...80,647,138
Ensembl chr14:76,401,299...76,422,566 		JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:76,176,097...76,213,300
Ensembl chr14:76,176,101...76,213,251 		JBrowse link
G Stk32b serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:12571802 PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 More... NCBI chr14:77,300,675...77,562,721
Ensembl chr14:73,078,061...73,336,458 		JBrowse link
G Stx18 syntaxin 18 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:76,883,767...76,976,442
Ensembl chr14:72,670,411...72,761,464 		JBrowse link
G Tmem128 transmembrane protein 128 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:76,751,848...76,761,576
Ensembl chr14:72,539,532...72,548,550 		JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:80,452,936...80,470,141
Ensembl chr14:76,228,371...76,275,265 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:25741868 NCBI chr 9:99,521,176...99,557,966
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
G Wdr35 WD repeat domain 35 ISO DNA:snps:introns, cds:multiple (human)
ClinVar Annotator: match by term: Ellis-van Creveld syndrome		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:25908617 RGD:11073852 NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029 		JBrowse link
G Zbtb49 zinc finger and BTB domain containing 49 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:72,590,692...72,612,404
Ensembl chr14:72,590,708...72,612,404 		JBrowse link
G Zfyve28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr14:80,692,997...80,778,606
Ensembl chr14:76,468,424...76,554,039 		JBrowse link
fibrochondrogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrochondrogenesis		 CTD
ClinVar		 PMID:21035103 PMID:23922384 PMID:28492532 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
fibrochondrogenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 ClinVar
OMIM		 PMID:9536098 PMID:10486316 PMID:17236192 PMID:17576681 PMID:17999364 More... NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
fibrochondrogenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 2 OMIM
ClinVar		 PMID:9536098 PMID:10677296 PMID:15558753 PMID:15922184 PMID:16033917 More... NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
Fibrous Dysplasia of Bone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:7739708 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Trim37 tripartite motif-containing 37 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14757854 NCBI chr10:72,440,672...72,572,831
Ensembl chr10:71,943,375...72,075,558 		JBrowse link
fibular hypoplasia and complex brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Du pan syndrome ClinVar PMID:228900 PMID:258150 NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO
ISS		 ClinVar Annotator: match by term: Acromesomelic dysplasia 2B | ClinVar Annotator: match by term: Du pan syndrome
OMIM:228900
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:T1322C (p.L441P)(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:12121354 PMID:16014698 PMID:16127465 PMID:17384641 PMID:18629880 More... RGD:12437084 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
Frank-Ter Haar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay | ClinVar Annotator: match by term: SH3PXD2B-related condition		 OMIM
CTD
ClinVar		 PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr10:17,422,906...17,538,977
Ensembl chr10:16,918,679...17,005,170 		JBrowse link
frontometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frontometaphyseal dysplasia		 CTD
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple (human)		 CTD
RGD		 PMID:27426733 RGD:11552867 NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
frontometaphyseal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1
DNA:missense mutations, deletions:cds:multiple (human)		 OMIM
ClinVar
RGD		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... RGD:11063279 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
frontometaphyseal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 OMIM
ClinVar		 PMID:25741868 PMID:25899317 PMID:27426733 PMID:28492532 NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
geleophysic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:18677313 PMID:20301776 PMID:21415077 PMID:25741868 PMID:28917829 More... NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
geleophysic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS-like 2 ISO
ISS		 ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: Geleophysic dysplasia 1
OMIM:231050		 OMIM
ClinVar
MouseDO		 PMID:18677313 PMID:20301776 PMID:21415077 PMID:24014090 PMID:25741868 More... NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
geleophysic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 2 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852206 PMID:2005308 PMID:2254511 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
geleophysic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 3 OMIM
ClinVar		 PMID:25741868 PMID:27068007 PMID:28492532 PMID:30887145 PMID:33082559 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
Ghosal hematodiaphyseal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbxas1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome | ClinVar Annotator: match by term: TBXAS1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8702713 PMID:17203301 PMID:18264100 PMID:19114962 PMID:22735388 More... NCBI chr 4:68,631,841...68,803,959
Ensembl chr 4:67,665,007...67,837,096 		JBrowse link
gnathodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO
ISS		 ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions
OMIM:166260
DNA:missense mutations:exon:p.C356R, p.C356G (human)
DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)		 OMIM
ClinVar
MouseDO
RGD		 PMID:3530687 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 More... RGD:11570566, RGD:11570556 NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Fancf FA complementation group F ISO ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia ClinVar PMID:28492532 NCBI chr 1:110,585,054...110,587,870
Ensembl chr 1:101,450,389...101,451,923 		JBrowse link
G Slc17a6 solute carrier family 17 member 6 ISO ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia ClinVar PMID:28492532 NCBI chr 1:110,348,447...110,388,499
Ensembl chr 1:101,212,489...101,252,542 		JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
DNA:mutations:cds:multiple (human)		 OMIM
ClinVar
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr13:96,071,058...96,095,709
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
hereditary multiple exostoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:87,983,788...87,990,810
Ensembl chr 7:86,094,000...86,101,019 		JBrowse link
G Col14a1 collagen type XIV alpha 1 chain ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,611,827...88,826,939
Ensembl chr 7:86,722,094...86,937,214 		JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:87,634,686...87,695,465
Ensembl chr 7:85,744,895...85,805,675 		JBrowse link
G Deptor DEP domain containing MTOR-interacting protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,404,745...88,574,065
Ensembl chr 7:86,514,988...86,667,773 		JBrowse link
G Dscc1 DNA replication and sister chromatid cohesion 1 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,372,349...88,390,815
Ensembl chr 7:86,482,588...86,498,212 		JBrowse link
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:84,980,891...85,064,284
Ensembl chr 7:83,091,039...83,174,451 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,092,140...88,214,758
Ensembl chr 7:86,202,350...86,324,827 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO
ISS		 DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis
OMIM:133700 | OMIM:133701 | OMIM:600209
DNA:missense mutation:cds:p.Y271H (human)
DNA:frameshift mutation:cds:p.S442IfsX1 (human)
DNA:frameshift mutation:cds:p.K218fsX247 (human)
DNA:nonsense mutation:cds:p.Y634X (human)
DNA:missense mutation, frameshift mutation:cds:p.R340L, p.K177KfsX15 (human)
DNA:deletion:cds:p.V545_E574del (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227 NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:133700 | OMIM:133701 | OMIM:600209
ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas		 CTD
MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:23439489 PMID:25741868 PMID:28492532 NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:79,665,415...79,798,059 		JBrowse link
G Mal2 mal, T-cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:87,790,239...87,823,219
Ensembl chr 7:85,900,453...85,933,429 		JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,894,638...85,916,373
Ensembl chr 7:84,004,722...84,026,595 		JBrowse link
G Mrpl13 mitochondrial ribosomal protein L13 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,841,265...88,862,821
Ensembl chr 7:86,951,541...86,973,577 		JBrowse link
G Mtbp MDM2 binding protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,862,939...88,945,491
Ensembl chr 7:86,973,069...87,050,827 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,177,715...85,204,657
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:86,658,709...86,953,879
Ensembl chr 7:84,768,254...85,271,766 		JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,481,864...85,517,255
Ensembl chr 7:83,591,993...83,626,305 		JBrowse link
G Sntb1 syntrophin, beta 1 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,950,642...89,219,017
Ensembl chr 7:87,060,926...87,329,315 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:81,921,601...82,141,905 		JBrowse link
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655 		JBrowse link
Hyperostosis Cranialis Interna term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Hyperostosis cranialis interna OMIM
ClinVar		 PMID:2300107 PMID:25741868 PMID:28492532 PMID:28541650 PMID:29621230 More... NCBI chr15:51,786,517...51,833,260
Ensembl chr15:45,376,917...45,423,524 		JBrowse link
hypertrichotic osteochondrodysplasia Cantu type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO
ISS		 ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type
OMIM:239850
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10398267 PMID:15034580 PMID:16199547 PMID:16835932 More... NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:239850
ClinVar Annotator: match by term: Cantu syndrome | ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type		 CTD
MouseDO
ClinVar		 PMID:24176758 PMID:24700710 PMID:25741868 PMID:28492532 PMID:28842488 More... NCBI chr 4:177,240,692...177,246,548
Ensembl chr 4:175,508,912...175,515,603 		JBrowse link
hypochondrogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: Hypochondrogenesis ClinVar
MouseDO		 PMID:1429602 PMID:2572591 PMID:3195588 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
hypochondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO
ISS		 ClinVar Annotator: match by term: Hypochondroplasia
OMIM:146000
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:c.1988 A>C(p.K650T)(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568026 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
hypomyelinating leukodystrophy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia ClinVar PMID:35325049 NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia OMIM
ClinVar		 PMID:25741868 PMID:35325049 NCBI chr 9:22,936,031...22,940,114
Ensembl chr 9:15,438,594...15,442,234 		JBrowse link
hypomyelinating leukodystrophy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:130,274,122...130,286,146 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr16:56,066...95,060
Ensembl chr16:49,521...88,172 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 More... NCBI chr 7:20,926,866...21,030,133
Ensembl chr 7:19,038,552...19,142,598 		JBrowse link
hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:56,030,409...56,072,952
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chr17:55,983,627...56,031,578
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
IMAGe syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More... NCBI chr 1:208,084,801...208,087,680
Ensembl chr 1:198,655,407...198,658,048 		JBrowse link
IMAGEI Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ClinVar
OMIM		 PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 More... NCBI chr12:52,005,155...52,053,761
Ensembl chr12:46,345,420...46,393,939 		JBrowse link
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Extl3 exostosin-like glycosyltransferase 3 ISO ClinVar Annotator: match by term: EXTL3-related condition | ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28132690 PMID:28148688 PMID:28492532 NCBI chr15:39,294,033...39,384,086
Ensembl chr15:39,293,605...39,338,898 		JBrowse link
Jansen's metaphyseal chondrodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type ClinVar NCBI chr 8:119,617,077...119,623,215
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia Murk Jansen type | ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7701349 PMID:8076140 PMID:8703170 PMID:9536098 PMID:10487664 More... NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfatc2 nuclear factor of activated T-cells 2 ISO OMIM NCBI chr 3:177,615,189...177,747,493
Ensembl chr 3:157,198,872...157,328,325 		JBrowse link
Kashin-Beck Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator ISO protein:increased expression:articular cartilage, chondrocyte RGD PMID:16511931 RGD:10054094 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO protein:increased expression:articular cartilage, chondrocyte RGD PMID:16511931 RGD:10054094 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:articular cartilage, chondrocyte RGD PMID:16511931 RGD:10054094 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
Kenny-Caffey syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome ClinVar PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 More... NCBI chr17:56,030,409...56,072,952
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome		 OMIM
CTD
ClinVar		 PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 More... NCBI chr17:55,983,627...56,031,578
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
Kenny-Caffey syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a FAM111 trypsin like peptidase A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome | ClinVar Annotator: match by term: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia		 OMIM
CTD
ClinVar		 PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chr 1:219,065,542...219,081,213
Ensembl chr 1:209,640,953...209,656,547 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:55,983,627...56,031,578
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
KINSSHIP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff3 ALF transcription elongation factor 3 ISO
ISS		 ClinVar Annotator: match by term: AFF3-related condition | ClinVar Annotator: match by term: KINSSHIP syndrome
OMIM:619297		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 PMID:29758562 PMID:31388108 PMID:33961779 NCBI chr 9:47,894,903...48,352,380
Ensembl chr 9:40,404,375...40,857,247 		JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Kniest dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:155,062,172...155,070,752
Ensembl chr 5:149,779,675...149,787,140 		JBrowse link
Langer Mesomelic Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shox1 SHOX homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Langer mesomelic dysplasia syndrome		 OMIM
CTD
ClinVar		 PMID:9590292 PMID:9590293 PMID:11889214 PMID:12116254 PMID:17935511 More... NCBI chr  X:121,553,770...121,560,788
Ensembl chr  X:116,688,163...116,695,058 		JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Larsen syndrome, dominant type ClinVar PMID:25741868 NCBI chr18:56,648,779...56,711,505
Ensembl chr18:54,378,784...54,438,994 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,657,308...28,694,976
Ensembl chr20:28,114,404...28,121,807 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr15:19,392,212...19,525,278
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
Larsen Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO DNA:deletion, missense mutations:cds: RGD PMID:16801345 RGD:12791029 NCBI chr15:19,392,212...19,525,278
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
Larsen-like syndrome B3GAT3 type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21763480 PMID:24668659 More... NCBI chr 1:215,246,453...215,253,033
Ensembl chr 1:205,817,378...205,837,807 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 More... NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,018,935...9,027,573 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:215,160,764...215,172,540
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:25741868 PMID:28492532 PMID:37644014 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695 		JBrowse link
G Ints5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:205,788,906...205,793,685
Ensembl chr 1:205,788,906...205,793,685 		JBrowse link
G Lrrn4cl LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:215,172,689...215,192,627 JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:215,253,155...215,255,163
Ensembl chr 1:205,824,052...205,826,175 		JBrowse link
G Ubxn1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:215,194,418...215,198,343
Ensembl chr 1:205,745,120...205,816,520 		JBrowse link
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 1:215,202,700...215,203,478
Ensembl chr 1:205,772,780...205,774,376 		JBrowse link
Leri-Weill dyschondrosteosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shox1 SHOX homeobox 1 ISO ClinVar Annotator: match by term: Leri-Weill dyschondrosteosis | ClinVar Annotator: match by term: Léri-Weill dyschondrosteosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9140395 PMID:9590292 PMID:9590293 PMID:11030412 PMID:11403039 More... NCBI chr  X:121,553,770...121,560,788
Ensembl chr  X:116,688,163...116,695,058 		JBrowse link
G Shox2 SHOX homeobox 2 ISS OMIM:127300 MouseDO NCBI chr 2:153,524,324...153,537,571
Ensembl chr 2:151,217,552...151,227,143 		JBrowse link
Liberfarb Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pisd phosphatidylserine decarboxylase ISO ClinVar Annotator: match by term: Liberfarb syndrome | ClinVar Annotator: match by term: PISD-related condition | ClinVar Annotator: match by term: PISD-related mitochondrial disease OMIM
ClinVar		 PMID:3561949 PMID:25741868 PMID:28492532 PMID:30488656 PMID:30858161 More... NCBI chr14:82,166,401...82,215,479
Ensembl chr14:77,941,948...77,991,003 		JBrowse link
Lowry Wood Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, microcephaly and nystagmus | ClinVar Annotator: match by term: Lowry-Wood syndrome ClinVar PMID:10189087 PMID:12605445 PMID:19288552 PMID:21474760 PMID:21474761 More... NCBI chr13:32,046,362...32,267,954
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9689990 PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 More... NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
Maffucci syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:7718873 PMID:8710906 PMID:9166859 PMID:9416844 PMID:11687599 More... NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:25741868 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:25741868 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:25741868 PMID:27993330 PMID:30231226 NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:25741868 NCBI chr 5:93,146,404...93,353,040
Ensembl chr 5:88,100,733...88,306,818 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:9067265 PMID:9663592 PMID:16884327 PMID:20151405 PMID:24728327 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
Marshall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain susceptibility ISO DNA:SNP:splice junction:
ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More... RGD:1600881 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:30,354,910...30,370,485
Ensembl chr18:30,103,728...30,119,307 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:30,381,072...30,406,859
Ensembl chr18:30,131,691...30,155,685 		JBrowse link
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 NCBI chr 2:201,432,769...201,457,015
Ensembl chr 2:201,432,684...201,456,747 		JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
McCune Albright syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Albright's disease | ClinVar Annotator: match by term: McCune-Albright syndrome		 CTD
ClinVar
OMIM		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More... NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO RGD PMID:16720661 RGD:12743609 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
Melnick-Needles syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: OSTEODYSPLASTY OF MELNICK AND NEEDLES | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles OMIM
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
melorheostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: MELORHEOSTOSIS, ISOLATED | ClinVar Annotator: match by term: Melorheostosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 More... NCBI chr 8:73,578,747...73,650,184
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Melorheostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964 		JBrowse link
Melorheostosis with Osteopoikilosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis ClinVar PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... NCBI chr 7:58,300,556...58,389,485
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
metachondromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921 		JBrowse link
Metaphyseal Anadysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp13 matrix metallopeptidase 13 ISO DNA:missense mutations: :p.F55S, p.M72T, p.H213N (human)
ClinVar Annotator: match by term: Metaphyseal anadysplasia		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:19615667 RGD:13204811 NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:missense mutations: :p.M1K (c.21T>A)(human) RGD PMID:19615667 RGD:13204811 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
Metaphyseal Anadysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Metaphyseal anadysplasia 1, autosomal dominant ClinVar PMID:13915518 PMID:19615667 PMID:24648384 PMID:25741868 PMID:27576021 More... NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
Metaphyseal Anadysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: MMP9-related condition | ClinVar Annotator: match by term: Metaphyseal anadysplasia 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16631427 PMID:18035073 PMID:19615667 PMID:20605480 PMID:22942228 More... NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
Metaphyseal Chondrodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col10a1 collagen type X alpha 1 chain ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr20:39,737,536...39,744,518
Ensembl chr20:38,182,494...38,189,494 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia ClinVar PMID:21683322 PMID:25741868 PMID:27245183 PMID:28492532 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr20:38,105,677...38,208,613
Ensembl chr20:38,105,678...38,208,591 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia ClinVar PMID:25741868 PMID:25792522 PMID:28426188 PMID:28492532 PMID:31502745 NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:81,921,601...82,141,905 		JBrowse link
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cwc27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: CWC27-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10420199 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr 2:35,764,674...35,975,908
Ensembl chr 2:35,764,686...35,975,872 		JBrowse link
Metaphyseal Chondrodysplasia, Spahr Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Spahr type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:13915518 PMID:19615667 PMID:24648384 PMID:24781753 PMID:25741868 More... NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
metaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sfrp4 secreted frizzled-related protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pyle metaphyseal dysplasia | ClinVar Annotator: match by term: Pyle's disease | ClinVar Annotator: match by term: SFRP4-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27355534 PMID:28492532 PMID:33193738 NCBI chr17:49,974,532...50,026,448
Ensembl chr17:45,234,097...45,330,736 		JBrowse link
Metaphyseal Dysplasia without Hypotrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Cartilage-hair hypoplasia variant, skeletal manifestations only ClinVar PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 PMID:11768584 More... NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly ClinVar PMID:23290074 NCBI chr 9:23,375,889...23,704,229
Ensembl chr 9:15,868,287...16,206,706 		JBrowse link
metatropic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: METATROPIC DWARFISM | ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr20:12,189,767...12,278,179
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 | ClinVar Annotator: match by term: Taybi Linder syndrome ClinVar PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More... NCBI chr13:32,046,362...32,267,954
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I ClinVar PMID:25741868 PMID:28492532 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Brachymelic primordial dwarfism ClinVar PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: MOPD I
ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I		 ClinVar PMID:25351510 PMID:25741868 PMID:26743238 PMID:28237968 PMID:28492532 More... NCBI chr17:63,081,527...63,667,141
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO
ISS		 ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities | ClinVar Annotator: match by term: OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II | ClinVar Annotator: match by term: PCNT-related condition
OMIM:210720
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human)
DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More... RGD:11537403, RGD:11537402, RGD:11537401, RGD:11537400 NCBI chr20:12,189,767...12,278,179
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism, Type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE | ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III ClinVar PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:24865609 More... NCBI chr13:32,046,362...32,267,954
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr10:1,347,010...1,391,167
Ensembl chr10:839,788...883,869 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE ClinVar PMID:25351510 PMID:25741868 PMID:28237968 PMID:28492532 PMID:31195250 More... NCBI chr17:63,081,527...63,667,141
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
microcephaly, short stature, and limb abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: DONSON-related condition | ClinVar Annotator: match by term: Microcephaly, short stature, and limb abnormalities OMIM
ClinVar		 PMID:8434992 PMID:25741868 PMID:27040692 PMID:28191891 PMID:28331220 More... NCBI chr11:44,405,794...44,419,099
Ensembl chr11:30,923,239...30,932,889 		JBrowse link
microcephaly-micromelia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Microcephaly-micromelia syndrome OMIM
ClinVar		 PMID:25741868 PMID:27040692 PMID:28191891 PMID:28331220 PMID:28492532 More... NCBI chr11:44,405,794...44,419,099
Ensembl chr11:30,923,239...30,932,889 		JBrowse link
Miura type epiphyseal chondrodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Epiphyseal chondrodysplasia, miura type | ClinVar Annotator: match by term: Tall stature-scoliosis-macrodactyly of the great toes syndrome OMIM
ClinVar		 PMID:9536098 PMID:15146390 PMID:15572448 PMID:16384845 PMID:17576681 More... NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Epiphyseal chondrodysplasia, miura type | ClinVar Annotator: match by term: Tall stature-scoliosis-macrodactyly of the great toes syndrome ClinVar PMID:15146390 PMID:15572448 PMID:16384845 PMID:18945719 PMID:22691581 More... NCBI chr 5:62,697,451...62,699,664
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
multiple epiphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Multiple epiphyseal dysplasia ClinVar PMID:28492532 PMID:28742282 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar PMID:28492532 NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Epiphyseal dysplasia ClinVar PMID:25741868 NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
G Comp cartilage oligomeric matrix protein ISS
ISO		 OMIM:132400 | OMIM:226900 | OMIM:600204 | OMIM:600969 | OMIM:607078 | OMIM:614135
ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia		 MouseDO
ClinVar		 PMID:9021009 PMID:9463320 PMID:11565064 PMID:12483304 PMID:14684695 More... NCBI chr16:19,081,172...19,089,548
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia ClinVar PMID:11479597 PMID:14729835 PMID:15459972 PMID:15948199 PMID:16199550 More... NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar NCBI chr 3:188,112,037...188,131,883
Ensembl chr 3:167,734,473...167,754,282 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029 		JBrowse link
multiple epiphyseal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 ClinVar PMID:25741868 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 1, severe | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7670471 PMID:7670472 PMID:9021009 PMID:9463320 PMID:9887340 More... NCBI chr16:19,081,172...19,089,548
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
multiple epiphyseal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3238439 PMID:8528240 PMID:9536098 PMID:10364514 PMID:11565064 More... NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677 		JBrowse link
multiple epiphyseal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a3 collagen type IX alpha 3 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with or without myopathy		 CTD
ClinVar
OMIM		 PMID:9536098 PMID:10090888 PMID:10655510 PMID:10678658 PMID:15551337 More... NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
multiple epiphyseal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with double-layered patella
CTD Direct Evidence: marker/mechanism
DN A:mutations:intron,exon:-26+2T>C,837C>T(p.R279W)(human)		 OMIM
ClinVar
CTD
RGD		 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... RGD:13208864 NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
multiple epiphyseal dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY | ClinVar Annotator: match by term: Microepiphyseal dysplasia, bilateral hereditary | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, MATN3-related
OMIM:607078		 CTD
OMIM
ClinVar
MouseDO		 PMID:11479597 PMID:12736871 PMID:12884427 PMID:13849708 PMID:14729835 More... NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029 		JBrowse link
multiple epiphyseal dysplasia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: COL9A1-related disorder | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 6 OMIM
ClinVar		 PMID:9536098 PMID:11565064 PMID:16199547 PMID:16909383 PMID:17576681 More... NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
multiple epiphyseal dysplasia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 7 OMIM
ClinVar		 PMID:20358597 PMID:21037275 PMID:21412251 PMID:25741868 PMID:28492532 More... NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
multiple epiphyseal dysplasia due to collagen 9 anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: COL9A2-related disorder ClinVar PMID:9536098 PMID:10364514 PMID:12244547 PMID:15633184 PMID:17576681 More... NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677 		JBrowse link
multiple epiphyseal dysplasia with myopia and deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Multiple Exostoses Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:79,665,415...79,798,059 		JBrowse link
Multiple Exostoses Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 OMIM
ClinVar		 PMID:3080661 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 More... NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:79,665,415...79,798,059 		JBrowse link
Nasu-Hakola disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 ClinVar PMID:3681354 PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 More... NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:12,647,259...12,654,170 		JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO
ISS		 ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | ClinVar Annotator: match by term: TYROBP-related condition
OMIM:221770
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:10888890 PMID:11109371 PMID:12370476 PMID:15883308 PMID:17125796 More... NCBI chr 1:94,800,372...94,804,307
Ensembl chr 1:85,672,994...85,676,848 		JBrowse link
Odontochondrodysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Odontochondrodysplasia 1 OMIM
ClinVar		 PMID:20089971 PMID:23956106 PMID:25741868 PMID:28492532 PMID:29872333 More... NCBI chr 6:126,760,263...126,832,619
Ensembl chr 6:120,998,733...121,067,781 		JBrowse link
Odontochondrodysplasia 2 with Hearing Loss and Diabetes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mia3 MIA SH3 domain ER export factor 3 ISO ClinVar Annotator: match by term: Odontochondrodysplasia 2 with hearing loss and diabetes OMIM
ClinVar		 PMID:25741868 NCBI chr13:97,502,040...97,547,155
Ensembl chr13:94,970,424...95,011,972 		JBrowse link
Ollier disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha ISO ClinVar Annotator: match by term: Enchondromatosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Multiple enchondromatosis		 CTD
ClinVar		 PMID:18772396 PMID:21446021 PMID:22057234 PMID:22057236 PMID:24728327 More... NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Multiple enchondromatosis		 CTD
ClinVar		 PMID:18414213 PMID:22057234 PMID:22057236 PMID:25741868 PMID:28492532 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Kast Syndrome ClinVar PMID:25741868 NCBI chr 5:93,146,404...93,353,040
Ensembl chr 5:88,100,733...88,306,818 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20577567 PMID:21533187 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar PMID:7563486 PMID:7987306 PMID:8634692 PMID:8707293 PMID:8772572 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
omodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Omodysplasia ClinVar PMID:25741868 NCBI chr15:100,437,415...101,435,038
Ensembl chr15:94,029,884...95,024,006 		JBrowse link
omodysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Autosomal recessive omodysplasia | ClinVar Annotator: match by term: GPC6-related condition | ClinVar Annotator: match by term: Omodysplasia generalized form
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19481194 PMID:25741868 PMID:28492532 NCBI chr15:100,437,415...101,435,038
Ensembl chr15:94,029,884...95,024,006 		JBrowse link
omodysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant omodysplasia | ClinVar Annotator: match by term: FZD2-related condition OMIM
ClinVar		 PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More... NCBI chr10:88,061,988...88,063,898
Ensembl chr10:87,561,326...87,565,334 		JBrowse link
Opsismodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO ClinVar Annotator: match by term: INPPL1-related condition | ClinVar Annotator: match by term: Opsismodysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17952091 PMID:23273567 PMID:23273569 PMID:25741868 PMID:25997753 More... NCBI chr 1:165,595,047...165,609,503
Ensembl chr 1:156,183,059...156,197,500 		JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO ClinVar Annotator: match by term: Delayed skeletal maturation ClinVar PMID:25741868 NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
Osteoarthritis with Mild Chondrodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1905723 PMID:1975693 PMID:1985108 PMID:7695699 PMID:7757086 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapt1 transmembrane anterior posterior transformation 1 ISO ClinVar Annotator: match by term: Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type | ClinVar Annotator: match by term: TAPT1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26365339 PMID:28492532 NCBI chr14:71,085,966...71,132,228
Ensembl chr14:66,873,459...66,919,741 		JBrowse link
Osteochondroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20577567 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
osteogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B treatment ISO RGD PMID:31419601 RGD:329853752 NCBI chr 8:128,016,589...128,056,193
Ensembl chr 8:119,138,812...119,170,458 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:1409720 PMID:8406453 PMID:8954059 PMID:9618260 PMID:9781036 More... NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta		 ClinVar PMID:22482805 PMID:24033266 PMID:24091809 PMID:24648371 PMID:25656619 More... NCBI chr15:51,961,310...52,005,597
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment
severity		 ISO
ISS		 ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta
DNA:mutation:splice junction:c.1875+1G>A (IVS 27+1G>A)(human)
DNA:mutations:exons: c.97G > A,c.1209T > A,c.3702C > T(human)
DNA:deletion: :
DNA:mutation:exon:c.3235G>A(p.G1079S)(human)
DNA:transition mutation:splice junction:
DNA:transversion mutation:intron:
CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.3207+1G>A (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:1137656 PMID:1634225 PMID:1718984 PMID:1737847 PMID:1770532 More... RGD:734802, RGD:329853752, RGD:11667068, RGD:11667066, RGD:11667065, RGD:11571620, RGD:11571617, RGD:11571614, RGD:8552657 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO
ISS		 DNA:snp:cds:p.G328S (human)
ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
DNA:mutation:exon:c.87T > C(human)
DNA:mutations, haplotype (human)
DNA:deletion:exon:3983del (mouse)		 ClinVar
MouseDO
RGD		 PMID:458828 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2824475 More... RGD:1581197, RGD:11667066, RGD:734804, RGD:7248772 NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Crtap cartilage associated protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta		 CTD
ClinVar		 PMID:16199547 PMID:17055431 PMID:17192541 PMID:18566967 PMID:18996919 More... NCBI chr 8:122,926,117...122,945,843
Ensembl chr 8:114,047,933...114,067,631 		JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:11704758 PMID:15054402 PMID:19625339 PMID:21560189 PMID:22992991 More... NCBI chr 6:110,597,979...110,604,403
Ensembl chr 6:104,866,753...104,873,353 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta		 ClinVar PMID:9129737 PMID:9481655 PMID:9536098 PMID:9927692 PMID:17576681 More... NCBI chr10:85,845,801...85,858,361
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232 		JBrowse link
G Kif5b kinesin family member 5B ISO ClinVar Annotator: match by term: KIF5B-related osteogenesis imperfecta syndrome ClinVar NCBI chr17:56,185,386...56,222,990
Ensembl chr17:51,489,944...51,527,508 		JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta		 ClinVar
RGD		 PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 PMID:15024691 More... RGD:12792279 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:41,225,956...41,290,030
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta		 CTD
ClinVar		 PMID:3545499 PMID:9536098 PMID:16199547 PMID:17277775 PMID:17576681 More... NCBI chr 5:138,127,240...138,141,974
Ensembl chr 5:132,841,928...132,856,659 		JBrowse link
G Pgghg protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 1:196,038,276...196,044,561
Ensembl chr 1:196,039,103...196,044,372 		JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28492532 More... NCBI chr 8:101,964,318...102,047,022
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:24088043 PMID:25741868 PMID:28492532 NCBI chr  X:116,401,247...116,495,898
Ensembl chr  X:111,589,254...111,683,891 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:19781681 PMID:21239989 PMID:21282188 PMID:25741868 PMID:27509835 More... NCBI chr 8:75,498,966...75,504,823
Ensembl chr 8:66,603,861...66,630,428 		JBrowse link
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha ISO ClinVar Annotator: match by term: Lobstein disease ClinVar PMID:25741868 PMID:25944380 PMID:28492532 PMID:29100083 PMID:31531803 More... NCBI chr 1:69,213,198...69,232,441
Ensembl chr 1:60,540,194...60,560,129 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Lobstein disease ClinVar PMID:10866302 PMID:17526800 PMID:17526801 PMID:21194675 PMID:22628360 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:21353196 PMID:21826736 PMID:25741868 PMID:28116328 PMID:28492532 More... NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 PMID:37270749 NCBI chr 1:163,055,630...163,063,177
Ensembl chr 1:153,643,510...153,650,801 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:52,006,274...52,009,324
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Smad4 SMAD family member 4 ISS MouseDO NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS MouseDO NCBI chr19:51,072,209...51,155,639
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:19781681 PMID:25741868 PMID:28242392 PMID:28492532 PMID:32392875 More... NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850 		JBrowse link
G Sp7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 PMID:38318288 NCBI chr 7:135,363,193...135,373,376
Ensembl chr 7:133,484,609...133,494,847 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteogenesis imperfecta		 CTD
ClinVar		 PMID:1793673 PMID:21976959 PMID:25741868 PMID:27132219 PMID:28492532 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:24835313 PMID:25741868 PMID:27441836 PMID:28492532 PMID:32123938 NCBI chr 5:73,255,662...73,291,383
Ensembl chr 5:68,460,304...68,496,025 		JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:23434763 PMID:23499309 PMID:23499310 PMID:25741868 PMID:27450065 More... NCBI chr 7:131,817,558...131,821,605
Ensembl chr 7:129,938,604...129,942,651 		JBrowse link
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr10:80,102,776...80,116,346
Ensembl chr10:79,606,007...79,619,391 		JBrowse link
osteogenesis imperfecta type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:80,001,389...80,043,796
Ensembl chr10:79,504,511...79,546,673 		JBrowse link
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:11288717 PMID:15077201 PMID:28492532 NCBI chr 4:32,659,196...32,739,228
Ensembl chr 4:32,658,748...32,739,202 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth
OMIM:166200
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I		 OMIM
ClinVar
MouseDO		 PMID:1445258 PMID:1460046 PMID:1634225 PMID:1718984 PMID:1737847 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth ClinVar PMID:458828 PMID:1634225 PMID:1642148 PMID:1978725 PMID:1990009 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:26478226 More... NCBI chr10:80,561,335...80,566,730
Ensembl chr10:80,064,489...80,069,872 		JBrowse link
G Eme1 essential meiotic structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:79,586,718...79,595,515
Ensembl chr10:79,586,729...79,595,435 		JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr10:80,486,998...80,522,548
Ensembl chr10:79,990,161...80,022,118 		JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:80,069,162...80,083,820
Ensembl chr10:79,572,317...79,602,533 		JBrowse link
G Mrpl27 mitochondrial ribosomal protein L27 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:80,092,327...80,098,105
Ensembl chr10:79,595,479...79,601,239 		JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr10:80,469,388...80,483,988
Ensembl chr10:79,972,556...79,987,085 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr10:80,434,888...80,450,919
Ensembl chr10:79,938,066...79,954,083 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta ClinVar PMID:10866302 PMID:17526800 PMID:17526801 PMID:21194675 PMID:22628360 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta ClinVar PMID:16199547 PMID:23919265 PMID:25741868 PMID:25944380 PMID:25960145 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr10:79,957,111...79,972,347
Ensembl chr10:79,957,758...79,972,341 		JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7695699 PMID:7942841 PMID:8218237 PMID:9016532 PMID:9295084 More... NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
G Sgce sarcoglycan, epsilon ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:11288717 PMID:15077201 PMID:28492532 NCBI chr 4:33,738,066...33,808,907
Ensembl chr 4:32,771,477...32,842,254 		JBrowse link
G Tmem92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:79,749,242...79,760,807 JBrowse link
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:80,102,776...80,116,346
Ensembl chr10:79,606,007...79,619,391 		JBrowse link
osteogenesis imperfecta type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinh1 serpin family H member 1 susceptibility ISS
ISO		 OMIM:613848
ClinVar Annotator: match by term: OI, TYPE X | ClinVar Annotator: match by term: Osteogenesis imperfecta type 10		 MouseDO
OMIM
ClinVar		 PMID:20188343 PMID:25510505 PMID:25741868 PMID:28492532 PMID:32161841 NCBI chr 1:163,055,630...163,063,177
Ensembl chr 1:153,643,510...153,650,801 		JBrowse link
osteogenesis imperfecta type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: FKBP10-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta type 11 OMIM
ClinVar		 PMID:9129737 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 More... NCBI chr10:85,845,801...85,858,361
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
osteogenesis imperfecta type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:22107750 PMID:22689593 More... NCBI chr10:85,845,801...85,858,361
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Sp7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 | ClinVar Annotator: match by term: SP7-related condition OMIM
ClinVar		 PMID:20579626 PMID:25741868 PMID:28492532 PMID:29382611 NCBI chr 7:135,363,193...135,373,376
Ensembl chr 7:133,484,609...133,494,847 		JBrowse link
osteogenesis imperfecta type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: BMP1-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta type 13 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii OMIM
ClinVar		 PMID:9536098 PMID:15542026 PMID:17576681 PMID:22052668 PMID:22482805 More... NCBI chr15:51,961,310...52,005,597
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii ClinVar PMID:25741868 NCBI chr15:52,006,274...52,009,324
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
osteogenesis imperfecta type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 14 | ClinVar Annotator: match by term: TMEM38B-related condition OMIM
ClinVar		 PMID:17611541 PMID:23054245 PMID:25741868 PMID:26911354 PMID:28492532 NCBI chr 5:73,255,662...73,291,383
Ensembl chr 5:68,460,304...68,496,025 		JBrowse link
osteogenesis imperfecta type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 ClinVar PMID:25741868 NCBI chr11:22,181,194...22,446,640
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: OI, TYPE XV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 | ClinVar Annotator: match by term: WNT1-related condition ClinVar
OMIM		 PMID:22653731 PMID:23434763 PMID:23499309 PMID:23499310 PMID:23656646 More... NCBI chr 7:131,817,558...131,821,605
Ensembl chr 7:129,938,604...129,942,651 		JBrowse link
osteogenesis imperfecta type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: CREB3L1-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta type 16 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29936144 PMID:30657919 NCBI chr 3:98,408,240...98,449,104
Ensembl chr 3:77,952,540...77,993,456 		JBrowse link
osteogenesis imperfecta type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sparc secreted protein acidic and cysteine rich ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 17 | ClinVar Annotator: match by term: SPARC-related condition OMIM
ClinVar		 PMID:21976959 PMID:25741868 PMID:26027498 PMID:27132219 PMID:28492532 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
osteogenesis imperfecta type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tent5a terminal nucleotidyltransferase 5A ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 18 | ClinVar Annotator: match by term: TENT5A-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29358272 NCBI chr 8:86,222,294...86,229,045
Ensembl chr 8:86,225,357...86,229,045 		JBrowse link
osteogenesis imperfecta type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19 OMIM
ClinVar		 PMID:25741868 PMID:27380894 NCBI chr  X:41,225,956...41,290,030
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19 ClinVar PMID:25741868 NCBI chr  X:41,253,481...41,257,103
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
osteogenesis imperfecta type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
OMIM:166210
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1511982 PMID:1613761 PMID:1634225 PMID:1770532 PMID:1864604 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:166210 MouseDO NCBI chr19:51,072,209...51,155,639
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
osteogenesis imperfecta type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: MESD-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta, type 20 OMIM
ClinVar		 PMID:28492532 PMID:31564437 PMID:33596325 NCBI chr 1:147,275,904...147,289,134
Ensembl chr 1:137,874,242...137,879,999 		JBrowse link
osteogenesis imperfecta type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 21 OMIM
ClinVar		 PMID:25741868 PMID:33053334 PMID:33964184 NCBI chr12:11,138,820...11,157,117
Ensembl chr12:11,138,820...11,157,153 		JBrowse link
osteogenesis imperfecta type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 22 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type XXII OMIM
ClinVar		 PMID:25741868 PMID:32181939 PMID:34204301 PMID:35019224 NCBI chr 7:115,526,537...115,539,155
Ensembl chr 7:113,644,639...113,659,050 		JBrowse link
osteogenesis imperfecta type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 23 ClinVar
OMIM		 PMID:36543534 NCBI chr 8:53,900,338...53,948,325
Ensembl chr 8:45,003,538...45,051,522 		JBrowse link
osteogenesis imperfecta type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
osteogenesis imperfecta type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr15:51,961,310...52,005,597
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Severe progressive deforming recessive osteogenesis imperfecta (type III) ClinVar PMID:25741868 PMID:32181939 PMID:34204301 PMID:35019224 NCBI chr 7:115,526,537...115,539,155
Ensembl chr 7:113,644,639...113,659,050 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III | ClinVar Annotator: match by term: Osteogenesis imperfecta, type III/IV
OMIM:259420
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1445258 PMID:1634225 PMID:1770532 PMID:2037280 PMID:2511192 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO
ISS		 ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III
OMIM:259420
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1990009 PMID:2052622 PMID:2064612 PMID:2824475 PMID:3023615 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr10:85,845,801...85,858,361
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:22615817 PMID:25741868 PMID:27864101 PMID:28492532 PMID:32770541 NCBI chr 5:138,127,240...138,141,974
Ensembl chr 5:132,841,928...132,856,659 		JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 PMID:28492532 PMID:32770541 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:259420 MouseDO NCBI chr19:51,072,209...51,155,639
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 PMID:28492532 PMID:30715774 PMID:32770541 NCBI chr 7:131,817,558...131,821,605
Ensembl chr 7:129,938,604...129,942,651 		JBrowse link
osteogenesis imperfecta type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4
OMIM:166220		 OMIM
ClinVar
MouseDO		 PMID:1634225 PMID:1718984 PMID:1770532 PMID:2037280 PMID:2542316 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 | ClinVar Annotator: match by term: Osteogenesis imperfecta with normal sclerae OMIM
ClinVar		 PMID:2064612 PMID:2897363 PMID:4795106 PMID:7695699 PMID:7860070 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV ClinVar PMID:16199547 PMID:23919265 PMID:25741868 PMID:25944380 PMID:25960145 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
osteogenesis imperfecta type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifitm5 interferon induced transmembrane protein 5 ISO
ISS		 ClinVar Annotator: match by term: IFITM5-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta type 5
OMIM:610967
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:22863190 PMID:22863195 PMID:23977282 PMID:24478195 PMID:24519609 More... NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232 		JBrowse link
G Pgghg protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 1:196,038,276...196,044,561
Ensembl chr 1:196,039,103...196,044,372 		JBrowse link
G Suco SUN domain containing ossification factor ISS OMIM:610967 MouseDO NCBI chr13:74,192,808...74,257,896
Ensembl chr13:74,193,573...74,257,896 		JBrowse link
osteogenesis imperfecta type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf1 serpin family F member 1 ISO
ISS		 ClinVar Annotator: match by term: Osteogenesis imperfecta type 6 | ClinVar Annotator: match by term: SERPINF1-related condition
OMIM:613982
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:21353196 PMID:21826736 PMID:23054245 More... NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
osteogenesis imperfecta type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crtap cartilage associated protein ISO
ISS		 ClinVar Annotator: match by term: Osteogenesis imperfecta type 7
OMIM:610682
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:12110406 PMID:16199547 PMID:17055431 PMID:17192541 More... NCBI chr 8:122,926,117...122,945,843
Ensembl chr 8:114,047,933...114,067,631 		JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 8:122,963,718...123,036,326
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 8:122,963,707...122,971,594
Ensembl chr 8:114,084,831...114,094,286 		JBrowse link
osteogenesis imperfecta type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h1 prolyl 3-hydroxylase 1 ISO
ISS		 ClinVar Annotator: match by term: OI type VIII | ClinVar Annotator: match by term: Osteogenesis imperfecta type 8 | ClinVar Annotator: match by term: P3H1-related condition
OMIM:610915
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3545499 PMID:9536098 PMID:16199547 PMID:17277775 PMID:17576681 More... NCBI chr 5:138,127,240...138,141,974
Ensembl chr 5:132,841,928...132,856,659 		JBrowse link
osteogenesis imperfecta type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppib peptidylprolyl isomerase B ISO
ISS		 OMIM:259440
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 | ClinVar Annotator: match by term: PPIB-related condition		 OMIM
MouseDO
CTD
ClinVar		 PMID:19781681 PMID:20089953 PMID:20484404 PMID:21239989 PMID:21282188 More... NCBI chr 8:75,498,966...75,504,823
Ensembl chr 8:66,603,861...66,630,428 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 | ClinVar Annotator: match by term: PPIB-related condition ClinVar PMID:19781681 PMID:25741868 PMID:28492532 PMID:29620724 NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850 		JBrowse link
osteoglophonic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Fairbank-Keats syndrome | ClinVar Annotator: match by term: Osteoglophonic dysplasia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.Y372C (1115G>A) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10629055 PMID:11173846 PMID:12627230 PMID:12952917 More... RGD:11567266 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
osteopathia striata with cranial sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amer1 APC membrane recruitment protein 1 ISO
ISS		 ClinVar Annotator: match by term: AMER1-related condition | ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis
OMIM:300373
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8723089 PMID:9327263 PMID:9383023 PMID:19079258 PMID:20209645 More... NCBI chr  X:64,310,492...64,326,377
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 PMID:25741868 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 PMID:25741868 NCBI chr  X:60,328,325...60,478,031
Ensembl chr  X:60,328,328...60,415,619 		JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687 		JBrowse link
G Spin4 spindlin family, member 4 ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 NCBI chr  X:63,898,338...63,902,427
Ensembl chr  X:59,891,581...59,892,330 		JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
G Zxda zinc finger, X-linked, duplicated A ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 NCBI chr  X:63,770,485...63,775,624
Ensembl chr  X:59,763,210...59,765,903
Ensembl chr  X:59,763,210...59,765,903 		JBrowse link
G Zxdb zinc finger, X-linked, duplicated B ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 NCBI chr  X:63,710,381...63,716,353
Ensembl chr  X:59,701,178...59,703,871
Ensembl chr  X:59,701,178...59,703,871 		JBrowse link
osteopetrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 susceptibility ISO DNA:splice-site mutation
ClinVar Annotator: match by term: Osteopetrosis		 ClinVar
RGD		 PMID:1301935 PMID:25741868 PMID:1301935 RGD:1600698 NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO RGD PMID:23580622 RGD:10401187 NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Albers-Schoenberg disease | ClinVar Annotator: match by term: Osteopetrosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11741829 PMID:14584882 PMID:15111300 PMID:16234969 PMID:17164308 More... RGD:737783 NCBI chr10:14,656,261...14,681,632
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
G Csf1 colony stimulating factor 1 IAGP
ISS		 DNA:insertion:cds (rat) MouseDO
RGD		 PMID:12379742 RGD:628338 NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Csf1tl colony stimulating factor 1; tooth less mutant IAGP RGD PMID:12379742 RGD:628338
G Ctsk cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chr 2:185,747,548...185,758,512
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Fermt3 FERM domain containing kindlin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18278053 NCBI chr 1:213,618,691...213,636,889
Ensembl chr 1:204,189,484...204,207,587 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO RGD PMID:10655067 RGD:737712 NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:202,754,529...202,764,930 		JBrowse link
G Ghr growth hormone receptor IEP protein:decreased expression:osteoclast RGD PMID:14632687 RGD:2307374 NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15314684 RGD:1549450 NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: High bone mass ClinVar PMID:11741193 PMID:12015390 PMID:25741868 PMID:28492532 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Lrrk1 leucine-rich repeat kinase 1 ISS MouseDO NCBI chr 1:129,254,815...129,390,217
Ensembl chr 1:119,845,146...119,979,734 		JBrowse link
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar PMID:25741868 NCBI chr 1:210,569,823...210,573,707
Ensembl chr 1:201,140,585...201,144,511 		JBrowse link
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar PMID:25741868 NCBI chr20:47,653,696...47,769,248
Ensembl chr20:46,153,075...46,187,023 		JBrowse link
G Snx10 sorting nexin 10 ISO ClinVar Annotator: match by term: Infantile osteopetrosis | ClinVar Annotator: match by term: Osteopetrosis ClinVar PMID:25590979 PMID:25741868 PMID:27187610 PMID:28492532 NCBI chr 4:81,943,262...82,007,667
Ensembl chr 4:80,612,669...80,676,996 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar PMID:10888887 PMID:10942435 PMID:11532986 PMID:12552563 PMID:15300850 More... NCBI chr 1:210,556,270...210,568,021
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:22,442,930...22,501,257
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteopetrosis		 CTD
ClinVar		 PMID:17632511 NCBI chr15:60,083,008...60,114,479
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
Osteopetrosis and Infantile Neuroaxonal Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Osteopetrosis and infantile neuroaxonal dystrophy ClinVar PMID:2668131 PMID:18414213 PMID:18443314 PMID:20301718 PMID:20619503 More... NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
Osteopoikilosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Osteopoikilosis ClinVar PMID:15489854 NCBI chr 7:58,300,556...58,389,485
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO
ISS		 ClinVar Annotator: match by term: Osteogenesis imperfecta ocular form | ClinVar Annotator: match by term: Osteoporosis with pseudoglioma | ClinVar Annotator: match by term: Pseudoglioma with bone fragility
OMIM:259770
DNA:mutations:cds:p.W478R,p.W504C(human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:8832721 PMID:9536098 PMID:11719191 PMID:11793484 PMID:12579474 More... RGD:12792280, RGD:12792277 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
osteosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:11741829 PMID:14584882 PMID:16234969 PMID:17164308 PMID:19543743 More... NCBI chr10:14,656,261...14,681,632
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:25741868 PMID:38173341 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:11719191 PMID:11741193 PMID:11793484 PMID:12015390 PMID:12579474 More... NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 PMID:12379497 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:25741868 NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:55,983,627...56,031,578
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:22231430 PMID:24033266 PMID:25741868 PMID:26264438 PMID:28492532 NCBI chr 1:210,556,270...210,568,021
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:22,442,930...22,501,257
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:20499338 PMID:21541994 PMID:25741868 PMID:28492532 NCBI chr15:60,083,008...60,114,479
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
osteosclerotic metaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: LRRK1-related condition | ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia OMIM
ClinVar		 PMID:8255649 PMID:25741868 PMID:27055475 PMID:27829680 PMID:28492532 More... NCBI chr 1:129,254,815...129,390,217
Ensembl chr 1:119,845,146...119,979,734 		JBrowse link
otopalatodigital syndrome spectrum disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO DNA:deletion:cds:c.4904_4912del (human)
ClinVar Annotator: match by term: Otopalatodigital syndrome spectrum disorder		 ClinVar
RGD		 PMID:15654694 PMID:16596676 PMID:15654694 RGD:11565126 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
otopalatodigital syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I
DNA:missense mutation:cds:p.P207L (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:10982489 PMID:11704759 More... RGD:1598954 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
otopalatodigital syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Andre syndrome | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD 2 syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Oto-palato-digital syndrome type 2 | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
DNA:missense mutation:cds:p.E254K (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... RGD:1598954 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation:intron		 OMIM
ClinVar
CTD
RGD		 PMID:7833911 PMID:7859284 PMID:9506662 PMID:9536098 PMID:9805126 More... RGD:12904710 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant ClinVar PMID:25741868 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO
ISS		 ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive
OMIM:215150
DNA:missense mutation:exon:p.G175R (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:7859284 PMID:9188673 PMID:9536098 PMID:10677296 PMID:15558753 More... RGD:12904710 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive		 CTD
ClinVar		 PMID:16189708 PMID:25326635 PMID:25741868 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
parastremmatic dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Parastremmatic dwarfism
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia		 OMIM
CTD
ClinVar		 PMID:14571277 NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 susceptibility ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 ClinVar
OMIM		 PMID:3681354 PMID:6681564 PMID:12080485 PMID:12754369 PMID:12883936 More... NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:12,647,259...12,654,170 		JBrowse link
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly ClinVar PMID:3681354 PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 More... NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:12,647,259...12,654,170 		JBrowse link
Progressive Diaphyseal Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE | ClinVar Annotator: match by term: Diaphyseal dysplasia 1, progressive ClinVar PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 More... NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
progressive pseudorheumatoid arthropathy of childhood term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn6 cellular communication network factor 6 ISO
ISS		 ClinVar Annotator: match by term: CCN6-related condition | ClinVar Annotator: match by term: Progressive pseudorheumatoid dysplasia
OMIM:208230
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10471507 PMID:15300964 PMID:15300987 PMID:15631777 More... NCBI chr20:42,569,309...42,585,126
Ensembl chr20:42,569,309...42,585,126 		JBrowse link
pseudoachondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comp cartilage oligomeric matrix protein ISO
ISS		 ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
OMIM:177170
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7670471 PMID:7670472 PMID:9463320 PMID:9632164 PMID:9756911 More... NCBI chr16:19,081,172...19,089,548
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
pycnodysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Pyknodysostosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:7663522 PMID:8703060 PMID:8938428 PMID:9529353 PMID:10074491 More... RGD:734856 NCBI chr 2:185,747,548...185,758,512
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO associated with Dwarfism; RGD PMID:11474477 RGD:8548826 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
CTD Direct Evidence: marker/mechanism
DNA:deletion, snps, missense mutations:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:2020859 PMID:9536098 PMID:12868469 PMID:14564151 PMID:17576681 More... RGD:11560486 NCBI chr12:20,940,654...20,999,072
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
rhizomelic chondrodysplasia punctata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agps alkylglycerone phosphate synthase ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:28492532 More... RGD:1300366 NCBI chr 3:81,154,599...81,253,099
Ensembl chr 3:60,747,323...60,845,830 		JBrowse link
G Gnpat glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:9536089 PMID:11237722 PMID:25741868 PMID:28492532 NCBI chr19:69,719,707...69,746,244
Ensembl chr19:52,822,319...52,852,361 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:26220973 NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata		 CTD
ClinVar		 PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... NCBI chr 1:16,402,319...16,466,304
Ensembl chr 1:14,582,699...14,646,748 		JBrowse link
rhizomelic chondrodysplasia punctata type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO
ISS		 ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 9 | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1
OMIM:215100
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... RGD:13208515 NCBI chr 1:16,402,319...16,466,304
Ensembl chr 1:14,582,699...14,646,748 		JBrowse link
rhizomelic chondrodysplasia punctata type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnpat glyceronephosphate O-acyltransferase ISO
ISS		 ClinVar Annotator: match by term: GNPAT-related condition | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2
OMIM:222765
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1405476 PMID:7530787 PMID:9536089 PMID:9536098 PMID:9843043 More... NCBI chr19:69,719,707...69,746,244
Ensembl chr19:52,822,319...52,852,361 		JBrowse link
rhizomelic chondrodysplasia punctata type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agps alkylglycerone phosphate synthase ISO
ISS		 ClinVar Annotator: match by term: AGPS-related condition | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3
OMIM:600121
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7807941 PMID:9536098 PMID:9553082 PMID:11152660 PMID:17576681 More... NCBI chr 3:81,154,599...81,253,099
Ensembl chr 3:60,747,323...60,845,830 		JBrowse link
rhizomelic chondrodysplasia punctata type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 ClinVar PMID:25741868 PMID:26100331 PMID:28492532 NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar		 PMID:7719337 PMID:10462504 PMID:17532062 PMID:20681997 PMID:25741868 More... NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
rhizomelic chondrodysplasia punctate type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Far1 fatty acyl CoA reductase 1 ISO ClinVar Annotator: match by term: Peroxisomal fatty acyl-coa reductase 1 disorder OMIM
ClinVar		 PMID:25439727 PMID:25741868 PMID:28492532 NCBI chr 1:177,078,973...177,140,363
Ensembl chr 1:167,644,677...167,705,730 		JBrowse link
Richieri Costa Pereira Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EIF4A3-related condition | ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome		 OMIM
CTD
ClinVar		 PMID:24360810 NCBI chr10:105,047,567...105,057,561
Ensembl chr10:104,549,038...104,559,057 		JBrowse link
Roifman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Roifman syndrome | ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY ClinVar PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:22581640 More... NCBI chr13:32,046,362...32,267,954
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:83,127,093...83,180,028 		JBrowse link
SADDAN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: SADDAN dysplasia | ClinVar Annotator: match by term: Severe achondroplasia with developmental delay and acanthosis nigricans OMIM
ClinVar		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
SAPHO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27936930 NCBI chr17:34,927,221...35,479,827
Ensembl chr17:34,718,687...35,407,524 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19779722 NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:27108452 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19779722 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Saul-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA | ClinVar Annotator: match by term: Microcephalic osteodysplastic dysplasia, Saul-Wilson type OMIM
ClinVar		 PMID:2309787 PMID:8074143 PMID:21185756 PMID:25741868 PMID:26467025 More... NCBI chr19:55,729,854...55,763,902
Ensembl chr19:38,820,501...38,854,796 		JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO
ISS		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
OMIM:242900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More... RGD:1599053 NCBI chr 9:81,689,446...81,735,406
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
Schmid metaphyseal chondrodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col10a1 collagen type X alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: COL10A1-related condition | ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
OMIM:156500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7607655 PMID:7749409 PMID:7936797 PMID:8004099 PMID:8012364 More... NCBI chr20:39,737,536...39,744,518
Ensembl chr20:38,182,494...38,189,494 		JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO ClinVar Annotator: match by term: COL10A1-related condition | ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE ClinVar PMID:7607655 PMID:7749409 PMID:7936797 PMID:8004099 PMID:8012364 More... NCBI chr20:38,105,677...38,208,613
Ensembl chr20:38,105,678...38,208,591 		JBrowse link
schneckenbecken dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35d1 solute carrier family 35 member D1 ISO
ISS		 ClinVar Annotator: match by term: Schneckenbecken dysplasia
OMIM:269250
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17952091 PMID:19508970 More... NCBI chr 5:123,157,739...123,210,350
Ensembl chr 5:117,934,352...117,981,311 		JBrowse link
Schwartz-Jampel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:8,814,285...8,828,628
Ensembl chr 7:8,162,750...8,179,812 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO
ISS		 ClinVar Annotator: match by term: HSPG2-related disorder | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1
OMIM:255800		 OMIM
ClinVar
MouseDO		 PMID:11038441 PMID:11101850 PMID:11279527 PMID:11941538 PMID:16199547 More... NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: HSPG2-related disorder | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 ClinVar PMID:11038441 PMID:11941538 PMID:24828792 PMID:25504735 PMID:25741868 More... NCBI chr 5:155,062,172...155,070,752
Ensembl chr 5:149,779,675...149,787,140 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin ClinVar PMID:25741868 NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
Schwartz-Lelek Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type ClinVar PMID:25741868 NCBI chr 2:79,883,350...80,011,222
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type ClinVar PMID:25741868 NCBI chr 2:80,021,381...80,046,898
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a7 solute carrier family 10, member 7 ISO ClinVar Annotator: match by term: SLC10A7-related condition | ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878199 PMID:30082715 NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464 		JBrowse link
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency ClinVar PMID:25741868 NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
short-rib thoracic dysplasia 10 with or without polydactyly term browser
Symbol Object Name Qualifiers 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 6:30,797,102...30,800,782
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 6:30,765,071...30,795,627
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 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860 		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 chr 2:155,455,773...155,550,082
Ensembl chr 2:153,145,795...153,240,024 		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 6:30,840,906...30,842,500
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 Qualifiers 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 chr 3:33,703,882...33,719,960
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 3:33,639,020...33,703,890
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 Qualifiers 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
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly ClinVar PMID:9769326 PMID:25741868 PMID:28492532 NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:154,815,777...154,828,762 		JBrowse link
short-rib thoracic dysplasia 14 with polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiaa0586 KIAA0586 homolog 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 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 Qualifiers 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 chr 6:15,717,936...15,743,376
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: 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 chr 6:9,992,537...10,025,355
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 Qualifiers 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 chr 3:172,091,591...172,116,497
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 Qualifiers 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 chr11:81,864,195...81,872,555
Ensembl chr11:68,358,263...68,367,499 		JBrowse link
short-rib thoracic dysplasia 18 with polydactyly term browser
Symbol Object Name Qualifiers 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 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 Qualifiers 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 chr12:39,618,559...39,697,971
Ensembl chr12:33,957,806...34,037,057 		JBrowse link
Short-Rib Thoracic Dysplasia 20 with Polydactyly term browser
Symbol Object Name Qualifiers 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 2:125,528,965...125,613,295
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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D14Rikl RIKEN cDNA 4933427D14 gene like 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 Qualifiers 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 chr10:94,393,379...94,426,579
Ensembl chr10:93,899,245...93,926,231 		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 chr16:33,625,734...33,695,067
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:24183451 PMID:25741868 PMID:26938784 More... NCBI chr 8:12,473,955...12,697,075
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...10,025,355
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 chr14:77,680,901...77,722,608
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 chr14:77,591,581...77,679,286
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 1:104,515,782...104,524,591
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 6:30,801,841...30,841,239
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 5:114,576,106...114,679,581
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 2:155,455,773...155,550,082
Ensembl chr 2:153,145,795...153,240,024 		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 OMIM
ClinVar		 PMID:263520 PMID:3014367 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr16:34,009,092...34,137,418
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 chr16:33,238,943...33,632,236
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 chr16:33,746,396...33,912,127
Ensembl chr16:28,735,440...28,901,644 		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 chr 9:99,521,176...99,557,966
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 3:71,269,425...71,343,936
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 Qualifiers 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 6:37,467,729...37,487,776
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
G Wdr35 WD repeat domain 35 ISO
ISS		 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:614091		 OMIM
ClinVar
MouseDO		 PMID:17935248 PMID:21473986 PMID:22486404 PMID:25741868 PMID:25908617 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 Qualifiers 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 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 Qualifiers 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 chr10:13,886,948...13,944,286
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 chr10:11,645,373...11,768,462
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 chr10:11,121,504...11,142,261
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 chr10:15,316,797...15,320,950
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 chr10:15,723,525...15,725,719
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 chr10:13,700,764...13,707,147
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 chr10:15,667,894...15,720,092
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 chr10:14,764,768...14,777,516
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 chr10:13,196,205...13,204,642
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 chr10:14,003,276...14,004,809
Ensembl chr10:13,498,381...13,500,259 		JBrowse link
G C10h16orf90 similar to human chromosome 16 open reading frame 90 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 C10h16orf96 similar to human chromosome 16 open reading frame 96 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,707,529...10,750,893 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 chr10:14,894,630...14,952,317
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 chr10:15,477,311...15,503,913
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 chr10:14,016,780...14,037,927
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 chr10:14,681,938...14,691,757
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 chr10:15,312,403...15,316,800
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 chr10:13,757,884...13,783,669
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 chr10:11,278,213...11,303,415
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 chr10:15,247,525...15,255,573
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 chr10:15,300,403...15,309,467
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 chr10:14,656,261...14,681,632
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 chr10:13,218,728...13,220,159 JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,094,346...12,159,440
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 chr10:14,488,292...14,536,844
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 chr10:11,842,307...11,968,266
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 chr10:15,609,389...15,617,779
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 chr10:11,107,988...11,121,475
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 chr10:11,361,168...11,386,599
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 chr10:12,005,305...12,030,615
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 chr10:13,976,012...13,978,574
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 chr10:13,978,975...13,999,646
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 chr10:13,961,250...13,974,595
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 chr10:13,353,413...13,358,484
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 chr10:14,413,661...14,420,489
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 chr10:14,378,058...14,379,497
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 chr10:15,736,741...15,768,043
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 chr10:15,333,996...15,346,253
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 chr10:13,279,232...13,298,955
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 chr10:14,223,023...14,225,736
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 chr10:11,457,594...11,484,948
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 chr10:15,245,698...15,247,602
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 chr10:14,756,685...14,761,636
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 chr10:14,379,400...14,394,046
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 chr10:15,309,469...15,313,910
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 chr10:14,286,555...14,292,660
Ensembl chr10:13,781,993...13,788,133 		JBrowse link
G Ift140 intraflagellar transport 140 ISO
ISS		 ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
OMIM:266920		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 More... NCBI chr10:14,537,134...14,624,926
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 chr10:14,397,076...14,408,439
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 chr10:15,353,460...15,356,392
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 chr10:14,467,652...14,487,769
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 chr10:13,583,781...13,609,762
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...12,767,622
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 chr10:15,094,432...15,188,665
Ensembl chr10:14,597,594...14,684,119 		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 chr10:15,777,837...15,811,586
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 chr10:14,422,936...14,463,387
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 chr10:15,388,325...15,393,302
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 chr10:12,288,514...12,303,337
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 chr10:14,336,869...14,369,566
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 chr10:15,321,200...15,323,218
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 chr10:15,393,554...15,448,003
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 chr10:14,002,927...14,008,678
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 chr10:13,164,974...13,180,503
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 chr10:15,653,006...15,656,062
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 chr10:14,420,543...14,421,674
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 chr10:15,276,489...15,285,921
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 chr10:14,269,414...14,275,140
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 chr10:12,129,026...12,149,053
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 chr10:14,253,805...14,255,966
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 chr10:14,167,005...14,177,519
Ensembl chr10:13,662,461...13,673,049 		JBrowse link
G Nlrc3 NLR family, CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,055,809...12,093,449
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 chr10:14,421,922...14,422,878
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 chr10:15,619,106...15,622,961
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 chr10:11,348,080...11,356,621
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 chr10:14,226,473...14,230,541
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 chr10:14,184,819...14,186,155
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 chr10:14,160,334...14,166,502
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 chr10:14,407,743...14,411,428
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 chr10:12,830,814...12,839,442
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 chr10:12,189,254...12,190,192
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 chr10:11,449,316...11,457,071
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 chr10:15,720,301...15,723,386
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 chr10:13,610,000...13,687,226
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 chr10:15,643,081...15,652,912
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 chr10:13,999,782...14,002,408
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 chr10:15,447,080...15,463,088
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 chr10:14,077,733...14,125,682
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 chr10:13,252,805...13,263,584
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 chr10:14,961,955...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 chr10:13,404,820...13,410,195
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 chr10:13,533,725...13,538,435
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 chr10:13,574,526...13,581,887
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 chr10:13,363,528...13,365,868
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 chr10:13,370,459...13,378,139
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 chr10:14,644,501...14,650,185
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 chr10:15,507,151...15,591,173
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 chr10:14,057,942...14,062,602
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 chr10:15,405,436...15,440,659
Ensembl chr10:14,900,929...14,936,557 		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 chr10:15,727,279...15,735,536
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 chr10:15,359,027...15,362,530
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 chr10:15,363,467...15,369,263
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 chr10:14,247,215...14,251,738
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 chr10:11,074,288...11,078,907
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 chr10:14,258,446...14,268,989
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 chr10:14,251,841...14,253,697
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 chr10:15,255,806...15,259,730
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 chr10:12,032,131...12,055,685
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 chr10:11,079,019...11,080,804 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 chr10:15,089,357...15,094,345
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 chr10:14,411,692...14,417,357
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 chr10:15,010,209...15,017,469
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 chr10:15,355,278...15,357,559
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 chr10:14,215,088...14,219,844
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 chr10:13,711,930...13,740,902
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 chr10:14,230,660...14,235,873
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 chr10:13,750,586...13,755,775
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 chr10:14,624,998...14,640,235
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 chr10:11,507,242...11,525,794
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 chr10:14,581,025...14,608,878
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 chr10:13,211,670...13,213,666
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 chr10:14,864,887...14,867,302
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 chr10:14,886,310...14,888,102
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 chr10:14,889,838...14,895,605
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 chr10:14,038,117...14,056,832
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 chr10:11,971,259...12,005,306
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 chr10:14,125,679...14,160,317
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 chr10:14,761,656...14,764,061
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 chr10:14,782,245...14,802,911
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 chr10:14,710,627...14,756,725
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 chr10:14,706,720...14,708,022
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 chr10:11,424,174...11,434,681
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 chr14:43,396,130...43,460,012
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 chr10:15,346,835...15,353,384
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 chr10:15,369,184...15,385,797
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 chr10:15,400,953...15,403,280
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 chr10:12,615,455...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...11,774,324
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 chr10:14,198,763...14,210,773
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
Shwachman-Diamond syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Shwachman syndrome | ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1		 CTD
ClinVar		 PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 More... NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752 		JBrowse link
G Sbds Sbds, ribosome maturation factor ISO
ISS		 DNA:mutations:multiple
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
OMIM:260400
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... RGD:1599541 NCBI chr12:32,056,649...32,065,816
Ensembl chr12:26,420,414...26,429,649 		JBrowse link
G Serpini2 serpin family I member 2 ISS OMIM:260400 MouseDO NCBI chr 2:160,014,721...160,044,271
Ensembl chr 2:160,014,721...160,044,280 		JBrowse link
G Srp19 signal recognition particle 19 ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr18:25,931,734...25,937,974
Ensembl chr18:25,931,589...25,938,017 		JBrowse link
G Srp54a signal recognition particle 54A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr 6:78,322,308...78,362,017
Ensembl chr 6:72,587,605...72,625,189 		JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470 		JBrowse link
Silverman-Handmaker type dyssegmental dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO
ISS		 ClinVar Annotator: match by term: Dyssegmental Dysplasia | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan
OMIM:224410
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:11279527 PMID:25741868 PMID:28492532 NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin ClinVar PMID:25741868 NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
Sketetal Dysplasia Coarse Facies Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration ClinVar PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration ClinVar PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:132,572,133...132,584,255
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
Smith-McCort dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO
ISS		 ClinVar Annotator: match by term: Smith-McCort dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:25741868 PMID:28492532 NCBI chr18:70,879,835...71,176,006
Ensembl chr18:68,605,185...68,900,903 		JBrowse link
G Rab33b RAB33B, member RAS oncogene family ISO ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar PMID:25741868 NCBI chr 2:137,678,953...137,689,581
Ensembl chr 2:135,528,116...135,538,719 		JBrowse link
Smith-McCort dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO ClinVar Annotator: match by term: DYM-related condition | ClinVar Annotator: match by term: Smith-McCort dysplasia 1 ClinVar
OMIM		 PMID:12491225 PMID:16097008 PMID:18996921 PMID:19005420 PMID:25741868 More... NCBI chr18:70,879,835...71,176,006
Ensembl chr18:68,605,185...68,900,903 		JBrowse link
Smith-McCort dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab33b RAB33B, member RAS oncogene family ISO
ISS		 OMIM:615222
ClinVar Annotator: match by term: Smith-McCort dysplasia 2		 OMIM
MouseDO
ClinVar		 PMID:16470731 PMID:22652534 PMID:23042644 PMID:25741868 PMID:28127940 More... NCBI chr 2:137,678,953...137,689,581
Ensembl chr 2:135,528,116...135,538,719 		JBrowse link
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx3-2 NK3 homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NKX3-2-related condition | ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia		 OMIM
CTD
ClinVar		 PMID:20004766 PMID:25741868 PMID:28492532 PMID:29704686 NCBI chr14:73,396,198...73,398,585
Ensembl chr14:69,183,820...69,186,061 		JBrowse link
Spondyloenchondrodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:21217752 PMID:21217755 NCBI chr 8:28,939,984...28,946,639
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
spondyloepimetaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISS MouseDO NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar PMID:23956136 PMID:25741868 PMID:31630789 NCBI chr19:68,062,442...68,065,065
Ensembl chr19:51,153,924...51,163,014
Ensembl chr 3:51,153,924...51,163,014 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity ClinVar PMID:23664117 PMID:25741868 PMID:28492532 PMID:29931299 PMID:32381727 More... NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 9:22,936,031...22,940,114
Ensembl chr 9:15,438,594...15,442,234 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures OMIM
ClinVar		 PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 More... NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations OMIM
ClinVar		 PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 More... NCBI chr 1:191,065,875...191,080,955
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc6b exocyst complex component 6B ISO ClinVar Annotator: match by term: EXOC6B-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 OMIM
ClinVar		 PMID:25741868 PMID:26669664 PMID:28492532 PMID:30284759 NCBI chr 4:118,652,279...119,107,725
Ensembl chr 4:117,094,741...117,550,180 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, MATN3-related		 CTD
OMIM
ClinVar		 PMID:11479597 PMID:14729835 PMID:15121775 PMID:15459972 PMID:16199550 More... NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type ClinVar PMID:25741868 NCBI chr16:53,023,623...53,048,176
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type OMIM
ClinVar		 PMID:21228277 PMID:25741868 PMID:28892125 PMID:32755715 NCBI chr16:53,004,590...53,023,640
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspry1 ring finger and SPRY domain containing 1 ISO ClinVar Annotator: match by term: RSPRY1-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type OMIM
ClinVar		 PMID:25741868 PMID:26365341 PMID:28492532 PMID:30063090 NCBI chr19:10,358,423...10,408,988
Ensembl chr19:10,353,821...10,401,102 		JBrowse link
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nans N-acetylneuraminate synthase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NANS-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type		 OMIM
CTD
ClinVar		 PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950 		JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: NANS-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type ClinVar PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 5:65,596,149...65,620,434
Ensembl chr 5:60,800,032...60,824,858 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: ERI1-associated disorder | ClinVar Annotator: match by term: ERI1-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Guo-Campeau type
ClinVar Annotator: match by term: ERI1-associated disorder | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Guo-Campeau type		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:37352860 NCBI chr16:56,724,101...56,744,228
Ensembl chr16:56,724,115...56,744,226 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type OMIM
ClinVar		 PMID:23956136 PMID:25741868 PMID:28492532 PMID:31630789 NCBI chr19:68,062,442...68,065,065
Ensembl chr19:51,153,924...51,163,014
Ensembl chr 3:51,153,924...51,163,014 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Krakow Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: SIK3-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Krakow type OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30232230 NCBI chr 8:55,208,969...55,419,138
Ensembl chr 8:46,311,989...46,522,444 		JBrowse link
spondyloepimetaphyseal dysplasia, Li-Shao-Li type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn2 cellular communication network factor 2 ISO OMIM NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
spondyloepimetaphyseal dysplasia, Missouri type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: MMP13-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8412645 PMID:16167086 PMID:19615667 PMID:25741868 PMID:28492532 More... NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO
ISS		 ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type
OMIM:612847
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9714015 PMID:9771708 PMID:16199547 PMID:17576681 More... NCBI chr 1:239,867,597...239,952,614
Ensembl chr 1:230,454,426...230,539,331 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Shohat Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: DDRGK1-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Shohat type OMIM
ClinVar		 PMID:8357004 PMID:25741868 PMID:28263186 PMID:28492532 NCBI chr 3:138,315,006...138,336,691
Ensembl chr 3:117,861,653...117,882,680 		JBrowse link
spondyloepimetaphyseal dysplasia, Sponastrime type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Sponastrime dysplasia | ClinVar Annotator: match by term: Spondylar and nasal alterations with striated metaphyses | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Sponastrime type | ClinVar Annotator: match by term: TONSL-related condition OMIM
ClinVar		 PMID:9536098 PMID:10797420 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 7:110,226,696...110,241,459
Ensembl chr 7:108,346,047...108,360,750 		JBrowse link
spondyloepimetaphyseal dysplasia, Strudwick type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1905723 PMID:7550321 PMID:7695699 PMID:7977371 PMID:8218237 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:1677003 PMID:15666313 PMID:25741868 PMID:28492532 PMID:29100092 More... NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:25741868 PMID:28492532 PMID:30773278 NCBI chr 7:110,226,696...110,241,459
Ensembl chr 7:108,346,047...108,360,750 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
spondyloepiphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia ClinVar PMID:25741868 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia ClinVar PMID:24033266 NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia ClinVar PMID:8922281 PMID:10841810 PMID:19472408 PMID:21497194 PMID:23831247 More... NCBI chr 8:122,963,718...123,036,326
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
spondyloepiphyseal dysplasia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bnip1 BCL2 interacting protein 1 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar PMID:25741868 NCBI chr10:16,891,317...16,903,561
Ensembl chr10:16,386,841...16,399,157 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,657,308...28,694,976
Ensembl chr20:28,114,404...28,121,807 		JBrowse link
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:30368667 More... NCBI chr13:32,046,362...32,267,954
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital type
OMIM:183900
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.G504S, p.G801S, p.G1176V (human)
DNA:missense mutation:cds:p.P986L (human)
DNA:missense mutation:cds:p.R1417C (mouse)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1905723 PMID:2339128 PMID:2543071 PMID:7695699 PMID:7752132 More... RGD:11667105, RGD:8657353, RGD:729929 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 ISS OMIM:183900 MouseDO NCBI chr 2:20,631,640...20,696,388
Ensembl chr 2:20,631,640...20,693,777 		JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita ClinVar PMID:25741868 NCBI chr  X:31,617,107...31,647,035
Ensembl chr  X:27,994,054...28,015,346 		JBrowse link
spondyloepiphyseal dysplasia Kimberley type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Kimberley type
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation:exon		 OMIM
ClinVar
CTD
RGD		 PMID:16080123 PMID:24762113 PMID:25741868 PMID:27870580 PMID:28492532 More... RGD:11570524 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
spondyloepiphyseal dysplasia Kondo-Fu type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: MBTPS1-related condition | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, kondo-fu type OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30046013 PMID:30099045 PMID:32064983 NCBI chr19:64,470,245...64,521,438
Ensembl chr19:47,561,598...47,612,791 		JBrowse link
spondyloepiphyseal dysplasia Maroteaux type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: PSEUDO-MORQUIO SYNDROME, TYPE 2 | ClinVar Annotator: match by term: SED, Maroteaux type | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type OMIM
ClinVar		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:12884428 PMID:14755468 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
spondyloepiphyseal dysplasia Nishimura type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir140 microRNA 140 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, nishimura type OMIM
ClinVar		 PMID:30804514 NCBI chr19:52,375,293...52,375,391
Ensembl chr19:35,465,577...35,465,675 		JBrowse link
G Wwp2 WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, nishimura type ClinVar PMID:30804514 NCBI chr19:52,256,563...52,380,967
Ensembl chr19:35,346,814...35,472,699 		JBrowse link
spondyloepiphyseal dysplasia Stanescu type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Stanescu type ClinVar PMID:25741868 PMID:28492532 PMID:36067040 NCBI chr 1:249,325,082...249,357,383
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: SED, STANESCU TYPE | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Stanescu type | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, stanescu type OMIM
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda ClinVar PMID:9536098 PMID:9990351 PMID:10431248 PMID:10999831 PMID:11326333 More... NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda ClinVar PMID:9536098 PMID:9990351 PMID:10431248 PMID:10999831 PMID:11326333 More... NCBI chr  X:31,617,107...31,647,035
Ensembl chr  X:27,994,054...28,015,346 		JBrowse link
spondyloepiphyseal dysplasia with congenital joint dislocations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocations OMIM
ClinVar		 PMID:112567 PMID:9039660 PMID:15098240 PMID:15215498 PMID:15368507 More... NCBI chr20:28,657,308...28,694,976
Ensembl chr20:28,114,404...28,121,807 		JBrowse link
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: SHILCA SYNDROME OMIM
ClinVar		 PMID:22842227 PMID:22842230 PMID:22842231 PMID:25741868 PMID:26018082 More... NCBI chr 5:165,193,301...165,211,213
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
spondylometaepiphyseal dysplasia, short limb-hand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: DDR2-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8434618 PMID:8818447 PMID:11375938 PMID:19110212 PMID:20223752 More... NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
spondylometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:1677003 PMID:15666313 PMID:25741868 PMID:28492532 PMID:29100092 More... NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:25741868 PMID:28492532 PMID:30773278 NCBI chr 7:110,226,696...110,241,459
Ensembl chr 7:108,346,047...108,360,750 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
spondylometaphyseal dysplasia Algerian type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
spondylometaphyseal dysplasia corner fracture type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:80,614,311...80,634,360
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type OMIM
ClinVar		 PMID:1544672 PMID:1677003 PMID:7747733 PMID:12042895 PMID:15666313 More... NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
spondylometaphyseal dysplasia Kozlowski type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: SMD Kozlowski type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Kozlowski type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:10463355 PMID:14755468 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr10:11,449,316...11,457,071
Ensembl chr10:10,943,001...10,950,649 		JBrowse link
Spondylometaphyseal Dysplasia Pagnamenta Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkg2 protein kinase cGMP-dependent 2 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, pagnamenta type OMIM
ClinVar		 PMID:34782440 NCBI chr14:10,864,020...10,972,617
Ensembl chr14:10,559,882...10,666,888 		JBrowse link
spondylometaphyseal dysplasia Sedaghatian type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: GPX4-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Sedaghatian type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:22529034 PMID:24706940 PMID:25741868 More... NCBI chr 7:10,300,833...10,303,629
Ensembl chr 7:9,650,185...9,652,982 		JBrowse link
spondylometaphyseal dysplasia with cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15326626 PMID:21412974 PMID:24387990 PMID:24387991 PMID:25741868 More... NCBI chr11:68,313,860...68,357,828
Ensembl chr11:68,313,882...68,357,357 		JBrowse link
spondylometaphyseal dysplasia with corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcb3 phospholipase C beta 3 ISO ClinVar Annotator: match by term: PLCB3-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia with corneal dystrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29122926 NCBI chr 1:213,572,499...213,589,585
Ensembl chr 1:204,144,956...204,160,228 		JBrowse link
Spondyloocular Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Spondylo-ocular syndrome | ClinVar Annotator: match by term: Spondyloocular syndrome, autosomal recessive | ClinVar Annotator: match by term: XYLT2-related condition OMIM
ClinVar		 PMID:16571645 PMID:25741868 PMID:26027496 PMID:26987875 PMID:28492532 More... NCBI chr10:80,102,776...80,116,346
Ensembl chr10:79,606,007...79,619,391 		JBrowse link
spondyloperipheral dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondyloperipheral dysplasia | ClinVar Annotator: match by term: Spondyloperipheral dysplasia with short ulna | ClinVar Annotator: match by term: Spondyloperipheral dysplasia-short ulna syndrome OMIM
ClinVar		 PMID:1905723 PMID:7550321 PMID:7695699 PMID:7752132 PMID:7977371 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Stuve-Wiedemann Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 2:57,951,787...58,020,357
Ensembl chr 2:56,250,120...56,286,699 		JBrowse link
Stuve-Wiedemann Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: LIFR-related condition | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:16969869 PMID:17576681 More... NCBI chr 2:57,951,787...58,020,357
Ensembl chr 2:56,250,120...56,286,699 		JBrowse link
Stuve-Wiedemann Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:62,471,246...62,477,812
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
TARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: RBM10-related condition ClinVar PMID:25741868 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: RBM10-related condition | ClinVar Annotator: match by term: TARP syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:4,093,914...4,126,060
Ensembl chr  X:1,540,398...1,572,575 		JBrowse link
terminal osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome OMIM
ClinVar		 PMID:9071288 PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
thanatophoric dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO
ISS		 ClinVar Annotator: match by term: Thanatophoric dwarfism
OMIM:187600 | OMIM:187601 | OMIM:273680
DNA:missense mutation:exon:p.S365C (mouse)
protein:increased expression:necleus,chondrocyte:
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:7773297 PMID:8599935 PMID:8754806 PMID:8845844 PMID:9207791 More... RGD:2289863, RGD:12910972, RGD:11568030 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISS OMIM:187600 | OMIM:187601 | OMIM:273680 MouseDO NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
Thanatophoric Dysplasia, Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL | ClinVar Annotator: match by term: Thanatophoric dysplasia with Kleeblattschaedel | ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
TIMES Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc8c leucine rich repeat containing 8 VRAC subunit C ISO ClinVar Annotator: match by term: TELANGIECTASIA, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, METAPHYSEAL DYSPLASIA, EYE ABNORMALITIES, AND SHORT STATURE OMIM
ClinVar		 PMID:39623139 NCBI chr14:4,528,721...4,621,259
Ensembl chr14:4,227,832...4,315,249 		JBrowse link
Torrance type platyspondylic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Lethal skeletal dysplasia ClinVar PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 More... NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,018,935...9,027,573 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:c.44406A>C (p.D1469A)(mouse)		 OMIM
ClinVar
CTD
RGD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... RGD:11667102 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Trichorhinophalangeal Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome | ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type I or III ClinVar PMID:25333908 PMID:25741868 PMID:28492532 PMID:29095814 NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:81,921,601...82,141,905 		JBrowse link
trichorhinophalangeal syndrome type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:75,783,689...75,822,077
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Anxa13 annexin A13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,773,844...91,826,386
Ensembl chr 7:89,884,356...89,936,907 		JBrowse link
G Atad2 ATPase family, AAA domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,523,626...91,566,238
Ensembl chr 7:89,634,123...89,676,738 		JBrowse link
G C7h8orf76 similar to human chromosome 8 open reading frame 76 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,558,890...89,569,810
Ensembl chr 7:89,558,909...89,569,810 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:87,983,788...87,990,810
Ensembl chr 7:86,094,000...86,101,019 		JBrowse link
G Col14a1 collagen type XIV alpha 1 chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:88,611,827...88,826,939
Ensembl chr 7:86,722,094...86,937,214 		JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:87,634,686...87,695,465
Ensembl chr 7:85,744,895...85,805,675 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:76,063,863...76,186,739
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Deptor DEP domain containing MTOR-interacting protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:88,404,745...88,574,065
Ensembl chr 7:86,514,988...86,667,773 		JBrowse link
G Derl1 derlin 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,293,963...91,316,639
Ensembl chr 7:89,404,417...89,427,145 		JBrowse link
G Dscc1 DNA replication and sister chromatid cohesion 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:88,372,349...88,390,815
Ensembl chr 7:86,482,588...86,498,212 		JBrowse link
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:84,980,891...85,064,284
Ensembl chr 7:83,091,039...83,174,451 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:88,092,140...88,214,758
Ensembl chr 7:86,202,350...86,324,827 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G Fam83a family with sequence similarity 83, member A ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,412,366...91,436,819
Ensembl chr 7:89,522,826...89,547,388 		JBrowse link
G Fam91a1 family with sequence similarity 91, member A1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,857,261...91,897,019
Ensembl chr 7:89,969,605...90,007,556 		JBrowse link
G Fbxo32 F-box protein 32 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,620,925...91,654,491
Ensembl chr 7:89,730,232...89,765,436 		JBrowse link
G Fer1l6 fer-1-like family member 6 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,093,567...90,216,907
Ensembl chr 7:90,061,924...90,215,214 		JBrowse link
G Has2 hyaluronan synthase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,002,929...90,028,933
Ensembl chr 7:88,113,326...88,128,933 		JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:78,495,670...78,640,896
Ensembl chr 9:71,042,440...71,190,867 		JBrowse link
G Kansl1l KAT8 regulatory NSL complex subunit 1-like ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:75,660,865...75,766,730
Ensembl chr 9:68,211,189...68,300,222 		JBrowse link
G Klhl38 kelch-like family member 38 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,744,634...91,753,843
Ensembl chr 7:89,855,148...89,864,276 		JBrowse link
G Lancl1 LanC like glutathione S-transferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,515,052...68,548,646
Ensembl chr 9:68,518,574...68,548,628 		JBrowse link
G Lratd2 LRAT domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,270,753...94,276,445
Ensembl chr 7:92,362,194...92,388,189 		JBrowse link
G Mal2 mal, T-cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:87,790,239...87,823,219
Ensembl chr 7:85,900,453...85,933,429 		JBrowse link
G Map2 microtubule-associated protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:75,173,038...75,431,606
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:85,894,638...85,916,373
Ensembl chr 7:84,004,722...84,026,595 		JBrowse link
G Mrpl13 mitochondrial ribosomal protein L13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:88,841,265...88,862,821
Ensembl chr 7:86,951,541...86,973,577 		JBrowse link
G Mtbp MDM2 binding protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:88,862,939...88,945,491
Ensembl chr 7:86,973,069...87,050,827 		JBrowse link
G Mtss1 MTSS I-BAR domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,378,228...92,517,444
Ensembl chr 7:90,488,754...90,627,968 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Myl1 myosin, light chain 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 Ensembl chr 9:68,437,517...68,458,261 JBrowse link
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,370,423...92,376,841
Ensembl chr 7:90,436,621...90,488,009 		JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,825,568...93,071,037
Ensembl chr 7:90,936,112...91,164,899 		JBrowse link
G Ntaq1 N-terminal glutamine amidase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,684,318...89,704,484
Ensembl chr 7:89,684,323...89,704,474 		JBrowse link
G Pvt1 Pvt1 oncogene ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:95,545,916...95,769,306 JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:85,177,715...85,204,657
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
G Rnf139 ring finger protein 139 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,329,201...92,340,386
Ensembl chr 7:90,436,621...90,488,009 		JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591 		JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,658,709...86,953,879
Ensembl chr 7:84,768,254...85,271,766 		JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:85,481,864...85,517,255
Ensembl chr 7:83,591,993...83,626,305 		JBrowse link
G Sntb1 syntrophin, beta 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:88,950,642...89,219,017
Ensembl chr 7:87,060,926...87,329,315 		JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:78,782,596...79,702,265
Ensembl chr 9:71,332,992...72,252,708 		JBrowse link
G Sqle squalene epoxidase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,758,175...92,773,049
Ensembl chr 7:90,868,011...90,883,618 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616 		JBrowse link
G Tatdn1 TatD DNase domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,339,452...92,370,445
Ensembl chr 7:90,441,079...90,481,133 		JBrowse link
G Tbc1d31 TBC1 domain family, member 31 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,316,905...91,396,434
Ensembl chr 7:89,426,780...89,506,894 		JBrowse link
G Tmem65 transmembrane protein 65 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,163,632...92,268,430
Ensembl chr 7:90,274,142...90,379,474 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Trib1 tribbles pseudokinase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:93,096,001...93,102,547
Ensembl chr 7:91,206,579...91,214,731 		JBrowse link
G Trmt12 tRNA methyltransferase 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,417,846...90,419,472
Ensembl chr 7:90,417,862...90,419,867 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO
ISS		 ClinVar Annotator: match by term: Trichorhinophalangeal Syndrome Type I | ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I
OMIM:190350
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:10615131 PMID:11112658 PMID:11359471 PMID:11807863 PMID:11950061 More... NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:81,921,601...82,141,905 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659 		JBrowse link
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,773,625...92,825,532
Ensembl chr 7:90,884,197...90,936,103 		JBrowse link
G Zhx1 zinc fingers and homeoboxes 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,582,363...89,611,337
Ensembl chr 7:89,582,243...89,611,264 		JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,115,894...91,263,823
Ensembl chr 7:89,226,463...89,374,378 		JBrowse link
trichorhinophalangeal syndrome type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Langer-Giedion syndrome ClinVar PMID:17301954 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Langer-Giedion syndrome | ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type 2		 CTD
ClinVar		 PMID:11112658 PMID:11708946 PMID:22964620 PMID:23451857 PMID:25741868 More... NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:81,921,601...82,141,905 		JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:87,983,788...87,990,810
Ensembl chr 7:86,094,000...86,101,019 		JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:87,634,686...87,695,465
Ensembl chr 7:85,744,895...85,805,675 		JBrowse link
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:84,980,891...85,064,284
Ensembl chr 7:83,091,039...83,174,451 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:88,092,140...88,214,758
Ensembl chr 7:86,202,350...86,324,827 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G Mal2 mal, T-cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:87,790,239...87,823,219
Ensembl chr 7:85,900,453...85,933,429 		JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:85,894,638...85,916,373
Ensembl chr 7:84,004,722...84,026,595 		JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:85,177,715...85,204,657
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:86,658,709...86,953,879
Ensembl chr 7:84,768,254...85,271,766 		JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:85,481,864...85,517,255
Ensembl chr 7:83,591,993...83,626,305 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 More... NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:81,921,601...82,141,905 		JBrowse link
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655 		JBrowse link
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Vitreoretinopathy with phalangeal epiphyseal dysplasia OMIM
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Weissenbacher-Zweymuller syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,231,558...55,236,786
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472 		JBrowse link
G Acvr2a activin A receptor type 2A ISS OMIM:261800 MouseDO NCBI chr 3:53,614,143...53,701,933
Ensembl chr 3:33,205,523...33,289,968 		JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Pierre Robin-like syndrome ClinVar NCBI chr12:29,739,138...30,830,386
Ensembl chr12:24,104,192...25,194,416 		JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,999,943...55,015,137
Ensembl chr10:54,501,093...54,516,345 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,188,670...55,190,871
Ensembl chr10:54,689,987...54,692,171 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome ClinVar PMID:9536098 PMID:10677296 PMID:15372529 PMID:15558753 PMID:16033917 More... NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781 		JBrowse link
G Dlx6 distal-less homeobox 6 ISO Cleft palate 1, DLX6-related OMIA PMID:24699068 PMID:28738009 PMID:28887848 PMID:34838248 NCBI chr 4:35,951,005...35,956,354
Ensembl chr 4:34,984,232...34,991,343 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,222,245...55,231,506
Ensembl chr10:54,723,411...54,732,820 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043 NCBI chr 1:201,426,446...201,544,444
Ensembl chr 1:191,996,730...192,114,359 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,138,821...55,143,272
Ensembl chr10:54,640,024...54,644,656 		JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923 		JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,213,465...55,216,787
Ensembl chr10:54,714,198...54,717,765 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,136,043...55,139,106
Ensembl chr10:54,637,455...54,640,650 		JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISS OMIM:261800 MouseDO NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258 		JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,042,175...55,056,578
Ensembl chr10:54,544,588...54,558,434 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,217,351...55,221,471
Ensembl chr10:54,717,724...54,722,782 		JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,064,349...55,070,120
Ensembl chr10:54,566,873...54,578,709 		JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,951,162...54,977,179
Ensembl chr10:54,452,441...54,478,455 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,164,721...55,170,289
Ensembl chr10:54,666,015...54,671,565 		JBrowse link
G Slc35g3 solute carrier family 35, member G3 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748 		JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Pierre Robin Syndrome ClinVar NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISS OMIM:261800 MouseDO NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:44,008,340...44,010,354 		JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19234473 NCBI chr10:98,305,744...98,311,250
Ensembl chr10:97,806,485...97,811,994 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,040,178...55,041,479
Ensembl chr10:54,541,471...54,546,131 		JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058 		JBrowse link
G Tfrc transferrin receptor ISS OMIM:261800 MouseDO NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,022,625...55,025,676
Ensembl chr10:54,523,585...54,525,990 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120 		JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790 		JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,070,362...55,084,383
Ensembl chr10:54,571,117...54,579,940 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:207,082,014...207,099,014
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:55,158,420...55,164,077
Ensembl chr10:54,659,719...54,665,371 		JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr10:54,979,421...55,000,215
Ensembl chr10:54,485,071...54,501,492 		JBrowse link
Wolcott-Rallison syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO
ISS		 DNA:insertion, missense mutation:1103insT, 1832G>A (p.R587Q) (human)
ClinVar Annotator: match by term: EIF2AK3-related condition | ClinVar Annotator: match by term: Wolcott-Rallison dysplasia
OMIM:226980
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7551159 PMID:9536098 PMID:10932183 PMID:11997520 PMID:12960215 More... RGD:734923 NCBI chr 4:104,363,838...104,425,271
Ensembl chr 4:102,805,510...102,866,911 		JBrowse link
Worth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Endosteal hyperostosis, Worth type | ClinVar Annotator: match by term: Endosteal hyperostosis, autosomal dominant | ClinVar Annotator: match by term: OSTEOSCLEROSIS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Osteosclerosis of the skull and enlarged mandible | ClinVar Annotator: match by term: Worth disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 More... NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
X-linked chondrodysplasia punctata 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsl arylsulfatase L ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1557308 PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 More... NCBI chr 2:119,038,803...119,047,579
Ensembl chr 2:119,038,921...119,046,846 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
X-linked chondrodysplasia punctata 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant | ClinVar Annotator: match by term: Chondrodysplasia punctata 2, X-linked dominant, atypical | ClinVar Annotator: match by term: Happle syndrome | ClinVar Annotator: match by term: Hunermann-Conradi Syndrome OMIM
ClinVar		 PMID:1355069 PMID:7677157 PMID:10391218 PMID:10391219 PMID:10710233 More... NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
X-linked spondyloepimetaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia ClinVar PMID:7825602 PMID:7849723 PMID:8040304 PMID:8651290 PMID:9088111 More... NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8064814 PMID:25741868 PMID:27236923 PMID:27632686 PMID:28492532 More... NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy ClinVar PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:132,572,133...132,584,255
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
X-linked spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked | ClinVar Annotator: match by term: TRAPPC2-related condition ClinVar PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 More... NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked | ClinVar Annotator: match by term: TRAPPC2-related condition OMIM
ClinVar		 PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 More... NCBI chr  X:31,617,107...31,647,035
Ensembl chr  X:27,994,054...28,015,346 		JBrowse link
Yunis-Varon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO
ISS		 ClinVar Annotator: match by term: Yunis-Varon syndrome
OMIM:216340
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr20:46,183,225...46,306,686
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr19:55,499,962...55,601,290
Ensembl chr19:38,590,569...38,691,909 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      bone development disease 2387
        osteochondrodysplasia 882
          Acrodysplasia Scoliosis 0
          Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 0
          Akaba Hayasaka Syndrome 0
          Auriculoosteodysplasia 0
          Beukes hip dysplasia 3
          Blount's disease 0
          Boomerang dysplasia 1
          CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
          CODAS syndrome 1
          Caffey disease + 5
          Camurati-Engelmann disease + 3
          Cartilage Hair Hypoplasia Like Syndrome 0
          Chondrodysplasia Calcificans Metaphysealis 0
          Cleidocranial Dysplasia 2 1
          Cleidorhizomelic Syndrome 0
          Cloverleaf Skull Micromelia Thoracic Dysplasia 0
          Collagenopathy, Type 2 Alpha 1 1
          Coloboma of Alar-Nasal Cartilages with Telecanthus 0
          Congenital Micromelic Dysplasia with Dislocation of Radius + 1
          Czech Dysplasia, Metatarsal Type 1
          Desbuquois dysplasia + 8
          Dyschondrosteosis and Nephritis 0
          Ehlers-Danlos syndrome spondylodysplastic type 3 1
          Eiken syndrome 1
          Ellis-Van Creveld syndrome + 50
          Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 0
          Epiphyseal Dysplasia, Baumann Type 0
          Fairbank Disease 0
          Familial Osteodysplasia, Anderson Type 0
          Faye-Petersen Ward Carey Syndrome 0
          Fibrous Dysplasia of Bone + 50
          Fraser Jequier Chen Syndrome 0
          Frontootopalatodigital Osteodysplasia 0
          Ghosal hematodiaphyseal syndrome 1
          Greenberg dysplasia 1
          Hyperostosis Frontalis Interna 0
          IMAGe syndrome 1
          Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
          Jequier Kozlowski Skeletal Dysplasia 0
          Kashin-Beck Disease 3
          Kniest dysplasia 1
          Kozlowski Tsuruta Taki Syndrome 0
          Laplane Fontaine Lagardere Syndrome 0
          Larsen Syndromes + 14
          Leri-Weill dyschondrosteosis 2
          Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 0
          Lowry Wood Syndrome 1
          Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
          Madelung Deformity 0
          Maffucci syndrome 6
          Marshall syndrome + 4
          Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 0
          Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 0
          Mesomelic Dysplasia + 2
          Metaphyseal Anadysplasia + 2
          Metaphyseal Chondrodysplasia + 7
          Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 0
          Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 0
          Metatropic Dwarfism, Type II 0
          Microcephalic Osteodysplastic Primordial Dwarfism + 6
          Micromelic Dwarfism Fryns Type 0
          Miura type epiphyseal chondrodysplasia 2
          Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 0
          OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE 1
          Ollier disease 6
          Opsismodysplasia 2
          Osebold Skeletal Dysplasia Osteolysis Syndrome 0
          Osteoarthritis with Mild Chondrodysplasia 1
          Osteochondroma + 34
          Pelvis-Shoulder Dysplasia 0
          Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 0
          Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly + 2
          Polydysspondyly 0
          Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 0
          Pubic Bone Dysplasia 0
          Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
          Roifman Syndrome 2
          SAPHO syndrome 5
          Saul-Wilson syndrome 1
          Schaefer Stein Oshman Syndrome 0
          Schwartz-Jampel syndrome 1 4
          Short Stature Syndrome, Brussels Type 0
          Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
          Silverman-Handmaker type dyssegmental dysplasia 2
          Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 0
          Sketetal Dysplasia Coarse Facies Mental Retardation 2
          Slipped Capital Femoral Epiphyses 0
          Spinal Dysplasia, Anhalt Type 0
          Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 1
          Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 0
          Spondyloocular Syndrome, Autosomal Recessive 1
          Spondylospinal Thoracic Dysostosis 0
          Stuve-Wiedemann Syndrome + 6
          Teebi Naguib Al Awadi syndrome 0
          Thoracolaryngopelvic Dysplasia 0
          Tracheobronchopathia Osteoplastica 0
          Trichorhinophalangeal Syndrome + 59
          Trichoscyphodysplasia 0
          Ulna Metaphyseal Dysplasia Syndrome 0
          Upington Disease 0
          Verloes Van Maldergem Marneffe Syndrome 0
          Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 1
          Weissenbacher-Zweymuller syndrome + 47
          Wolcott-Rallison syndrome 1
          acheiropody 1
          achondrogenesis + 45
          achondroplasia + 57
          acrocapitofemoral dysplasia 1
          acrodysostosis + 6
          acromesomelic dysplasia + 90
          acromicric dysplasia + 5
          asphyxiating thoracic dystrophy + 233
          atelosteogenesis + 2
          brachyolmia + 4
          calvarial doughnut lesions with bone fragility 2
          campomelic dysplasia + 2
          cartilage-hair hypoplasia 1
          chondrodysplasia Blomstrand type 2
          chondrodysplasia punctata + 10
          chondrodysplasia with joint dislocations gPAPP type 1
          chondrodysplasia-pseudohermaphroditism syndrome 1
          cleidocranial dysplasia + 7
          diaphyseal medullary stenosis with malignant fibrous histiocytoma 1
          diastrophic dysplasia + 1
          fibrochondrogenesis + 2
          hypertrichotic osteochondrodysplasia Cantu type 2
          hypochondrogenesis 1
          hypochondroplasia 1
          hypomyelinating leukodystrophy 26 2
          hypoparathyroidism-retardation-dysmorphism syndrome 2
          metaphyseal dysplasia + 15
          metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome 2
          microcephaly, short stature, and limb abnormalities 1
          microcephaly-micromelia syndrome 1
          midface dysplasia 0
          multiple epiphyseal dysplasia + 11
          omodysplasia + 2
          osteogenesis imperfecta + 62
          osteoglophonic dysplasia 1
          osteosclerosis + 60
          otopalatodigital syndrome spectrum disorder + 12
          otospondylomegaepiphyseal dysplasia, autosomal recessive 2
          parastremmatic dwarfism 1
          progressive pseudorheumatoid arthropathy of childhood 1
          pseudoachondroplasia 1
          pycnodysostosis 2
          schneckenbecken dysplasia 1
          spondyloepimetaphyseal dysplasia + 90
          spondyloepiphyseal dysplasia + 17
          spondylometaphyseal dysplasia + 15
          spondyloperipheral dysplasia 1
          terminal osseous dysplasia 1
          thanatophoric dysplasia + 4
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      musculoskeletal system disease 8461
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              osteochondrodysplasia 882
                Acrodysplasia Scoliosis 0
                Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 0
                Akaba Hayasaka Syndrome 0
                Auriculoosteodysplasia 0
                Beukes hip dysplasia 3
                Blount's disease 0
                Boomerang dysplasia 1
                CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
                CODAS syndrome 1
                Caffey disease + 5
                Camurati-Engelmann disease + 3
                Cartilage Hair Hypoplasia Like Syndrome 0
                Chondrodysplasia Calcificans Metaphysealis 0
                Cleidocranial Dysplasia 2 1
                Cleidorhizomelic Syndrome 0
                Cloverleaf Skull Micromelia Thoracic Dysplasia 0
                Collagenopathy, Type 2 Alpha 1 1
                Coloboma of Alar-Nasal Cartilages with Telecanthus 0
                Congenital Micromelic Dysplasia with Dislocation of Radius + 1
                Czech Dysplasia, Metatarsal Type 1
                Desbuquois dysplasia + 8
                Dyschondrosteosis and Nephritis 0
                Ehlers-Danlos syndrome spondylodysplastic type 3 1
                Eiken syndrome 1
                Ellis-Van Creveld syndrome + 50
                Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 0
                Epiphyseal Dysplasia, Baumann Type 0
                Fairbank Disease 0
                Familial Osteodysplasia, Anderson Type 0
                Faye-Petersen Ward Carey Syndrome 0
                Fibrous Dysplasia of Bone + 50
                Fraser Jequier Chen Syndrome 0
                Frontootopalatodigital Osteodysplasia 0
                Ghosal hematodiaphyseal syndrome 1
                Greenberg dysplasia 1
                Hyperostosis Frontalis Interna 0
                IMAGe syndrome 1
                Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
                Jequier Kozlowski Skeletal Dysplasia 0
                Kashin-Beck Disease 3
                Kniest dysplasia 1
                Kozlowski Tsuruta Taki Syndrome 0
                Laplane Fontaine Lagardere Syndrome 0
                Larsen Syndromes + 14
                Leri-Weill dyschondrosteosis 2
                Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 0
                Lowry Wood Syndrome 1
                Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
                Madelung Deformity 0
                Maffucci syndrome 6
                Marshall syndrome + 4
                Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 0
                Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 0
                Mesomelic Dysplasia + 2
                Metaphyseal Anadysplasia + 2
                Metaphyseal Chondrodysplasia + 7
                Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 0
                Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 0
                Metatropic Dwarfism, Type II 0
                Microcephalic Osteodysplastic Primordial Dwarfism + 6
                Micromelic Dwarfism Fryns Type 0
                Miura type epiphyseal chondrodysplasia 2
                Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 0
                OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE 1
                Ollier disease 6
                Opsismodysplasia 2
                Osebold Skeletal Dysplasia Osteolysis Syndrome 0
                Osteoarthritis with Mild Chondrodysplasia 1
                Osteochondroma + 34
                Pelvis-Shoulder Dysplasia 0
                Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 0
                Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly + 2
                Polydysspondyly 0
                Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 0
                Pubic Bone Dysplasia 0
                Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
                Roifman Syndrome 2
                SAPHO syndrome 5
                Saul-Wilson syndrome 1
                Schaefer Stein Oshman Syndrome 0
                Schwartz-Jampel syndrome 1 4
                Short Stature Syndrome, Brussels Type 0
                Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
                Silverman-Handmaker type dyssegmental dysplasia 2
                Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 0
                Sketetal Dysplasia Coarse Facies Mental Retardation 2
                Slipped Capital Femoral Epiphyses 0
                Spinal Dysplasia, Anhalt Type 0
                Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 1
                Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 0
                Spondyloocular Syndrome, Autosomal Recessive 1
                Spondylospinal Thoracic Dysostosis 0
                Stuve-Wiedemann Syndrome + 6
                Teebi Naguib Al Awadi syndrome 0
                Thoracolaryngopelvic Dysplasia 0
                Tracheobronchopathia Osteoplastica 0
                Trichorhinophalangeal Syndrome + 59
                Trichoscyphodysplasia 0
                Ulna Metaphyseal Dysplasia Syndrome 0
                Upington Disease 0
                Verloes Van Maldergem Marneffe Syndrome 0
                Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 1
                Weissenbacher-Zweymuller syndrome + 47
                Wolcott-Rallison syndrome 1
                acheiropody 1
                achondrogenesis + 45
                achondroplasia + 57
                acrocapitofemoral dysplasia 1
                acrodysostosis + 6
                acromesomelic dysplasia + 90
                acromicric dysplasia + 5
                asphyxiating thoracic dystrophy + 233
                atelosteogenesis + 2
                brachyolmia + 4
                calvarial doughnut lesions with bone fragility 2
                campomelic dysplasia + 2
                cartilage-hair hypoplasia 1
                chondrodysplasia Blomstrand type 2
                chondrodysplasia punctata + 10
                chondrodysplasia with joint dislocations gPAPP type 1
                chondrodysplasia-pseudohermaphroditism syndrome 1
                cleidocranial dysplasia + 7
                diaphyseal medullary stenosis with malignant fibrous histiocytoma 1
                diastrophic dysplasia + 1
                fibrochondrogenesis + 2
                hypertrichotic osteochondrodysplasia Cantu type 2
                hypochondrogenesis 1
                hypochondroplasia 1
                hypomyelinating leukodystrophy 26 2
                hypoparathyroidism-retardation-dysmorphism syndrome 2
                metaphyseal dysplasia + 15
                metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome 2
                microcephaly, short stature, and limb abnormalities 1
                microcephaly-micromelia syndrome 1
                midface dysplasia 0
                multiple epiphyseal dysplasia + 11
                omodysplasia + 2
                osteogenesis imperfecta + 62
                osteoglophonic dysplasia 1
                osteosclerosis + 60
                otopalatodigital syndrome spectrum disorder + 12
                otospondylomegaepiphyseal dysplasia, autosomal recessive 2
                parastremmatic dwarfism 1
                progressive pseudorheumatoid arthropathy of childhood 1
                pseudoachondroplasia 1
                pycnodysostosis 2
                schneckenbecken dysplasia 1
                spondyloepimetaphyseal dysplasia + 90
                spondyloepiphyseal dysplasia + 17
                spondylometaphyseal dysplasia + 15
                spondyloperipheral dysplasia 1
                terminal osseous dysplasia 1
                thanatophoric dysplasia + 4
paths to the root