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ONTOLOGY REPORT - ANNOTATIONS


Term:Musculoskeletal Abnormalities
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Accession:DOID:9005004 term browser browse the term
Definition:Congenital structural abnormalities and deformities of the musculoskeletal system.
Synonyms:exact_synonym: Musculoskeletal Abnormality
 primary_id: MESH:D009139;   RDO:0000756
For additional species annotation, visit the Alliance of Genome Resources.


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Musculoskeletal Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 3 10,041,820 10,145,076 RGD:11554173
G Epas1 endothelial PAS domain protein 1 JBrowse link 6 10,306,508 10,385,239 RGD:734934
G Foxc2 forkhead box C2 JBrowse link 19 53,044,379 53,047,081 RGD:11554173
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:1600688
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:1599697
G Rarg retinoic acid receptor, gamma JBrowse link 7 143,840,739 143,863,206 RGD:11554173
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:11554173
G Tmco1 transmembrane and coiled-coil domains 1 JBrowse link 13 85,465,015 85,559,113 RGD:11554173
22q11 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:11561941
3MC syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8554872
G Ahsg alpha-2-HS-glycoprotein JBrowse link 11 81,711,269 81,717,594 RGD:8554872
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:8554872
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 JBrowse link 11 81,741,342 81,757,806 RGD:8554872
G Eif4a2 eukaryotic translation initiation factor 4A2 JBrowse link 11 81,373,047 81,379,680 RGD:8554872
G Fetub fetuin B JBrowse link 11 81,648,890 81,660,472 RGD:8554872
G Hrg histidine-rich glycoprotein JBrowse link 11 81,621,274 81,639,938 RGD:8554872
G Kng2 kininogen 2 JBrowse link 11 81,509,185 81,516,759 RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:7240710
RGD:8554872
RGD:11554173
G Rfc4 replication factor C subunit 4 JBrowse link 11 81,358,592 81,373,044 RGD:8554872
G Rpl39l ribosomal protein L39-like JBrowse link 10 5,529,580 5,533,695 RGD:8554872
G Rtp1 receptor (chemosensory) transporter protein 1 JBrowse link 11 80,823,989 80,826,505 RGD:8554872
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 JBrowse link 11 80,927,601 80,981,424 RGD:8554872
G Tbccd1 TBCC domain containing 1 JBrowse link 11 81,757,963 81,794,367 RGD:8554872
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:7240710
RGD:8554872
RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
3MC syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec10 collectin subfamily member 10 JBrowse link 7 93,975,451 94,035,999 RGD:8554872
RGD:7240710
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
Aarskog syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11554031
RGD:11554030
RGD:11554029
RGD:11554024
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
Abruzzo Erickson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx22 T-box transcription factor 22 JBrowse link X 78,731,738 78,782,542 RGD:7240710
RGD:8554872
Absence of Tibia with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:8554872
RGD:7240710
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801438
acheiropody term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
acrocapitofemoral dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:1600033
RGD:8554872
RGD:7240710
acrocephalosyndactylia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11567243
RGD:11567271
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
RGD:12801488
RGD:12801475
RGD:12801474
RGD:12801413
RGD:11554173
RGD:8547743
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:1624353
RGD:11554173
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1a RNA polymerase I subunit A JBrowse link 4 99,822,964 99,903,969 RGD:7240710
RGD:8554872
acromelic frontonasal dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zswim6 zinc finger, SWIM-type containing 6 JBrowse link 2 38,978,042 39,042,886 RGD:7240710
RGD:8554872
Acromesomelic Dysplasia, Demirhan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:7240710
RGD:8554872
RGD:11554173
acromesomelic dysplasia, Grebe type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:12487346
RGD:12437083
RGD:12437075
RGD:8554872
acromicric dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:11554173
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
RGD:8554872
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
Adams-Oliver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link 11 64,600,968 64,714,114 RGD:8554872
RGD:11554173
G Dll4 delta like canonical Notch ligand 4 JBrowse link 3 111,135,011 111,146,746 RGD:8554872
RGD:11554173
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:11554173
RGD:8554872
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 4 129,477,779 129,515,435 RGD:8554872
RGD:11554173
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:11554173
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 RGD:11554173
Adams-Oliver Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link 11 64,600,968 64,714,114 RGD:7240710
RGD:8554872
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
Adams-Oliver Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 4 129,477,779 129,515,435 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camsap1 calmodulin regulated spectrin-associated protein 1 JBrowse link 3 3,373,971 3,434,027 RGD:8554872
G Card9 caspase recruitment domain family, member 9 JBrowse link 3 3,798,346 3,806,841 RGD:8554872
G Dnlz DNL-type zinc finger JBrowse link 3 3,796,480 3,798,467 RGD:8554872
G Entr1 endosome associated trafficking regulator 1 JBrowse link 3 3,827,498 3,834,219 RGD:8554872
G Gpsm1 G-protein signaling modulator 1 JBrowse link 3 3,767,394 3,794,360 RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:8554872
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:8554872
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:8554872
G Nacc2 NACC family member 2 JBrowse link 3 3,508,084 3,574,787 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:7240710
RGD:8554872
G Pmpca peptidase, mitochondrial processing alpha subunit JBrowse link 3 3,834,262 3,842,061 RGD:8554872
G Qsox2 quiescin sulfhydryl oxidase 2 JBrowse link 3 3,662,324 3,691,972 RGD:8554872
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor JBrowse link 3 3,856,218 3,890,785 RGD:8554872
G Snapc4 small nuclear RNA activating complex, polypeptide 4 JBrowse link 3 3,808,596 3,827,425 RGD:8554872
G Tmem250 transmembrane protein 250 JBrowse link 3 3,590,783 3,594,475 RGD:8554872
G Ubac1 UBA domain containing 1 JBrowse link 3 3,453,396 3,476,242 RGD:8554872
Adams-Oliver Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll4 delta like canonical Notch ligand 4 JBrowse link 3 111,135,011 111,146,746 RGD:8554872
RGD:7240710
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
agnathia-otocephaly complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:13592920
G Prrx1 paired related homeobox 1 JBrowse link 13 81,147,038 81,215,559 RGD:7240710
RGD:8554872
RGD:11554173
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:13592920
Al Awadi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:7240710
RGD:8554872
AL-RAQAD SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcps decapping enzyme, scavenger JBrowse link 8 36,321,992 36,374,665 RGD:7240710
RGD:8554872
Alazami Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Larp7 La ribonucleoprotein 7, transcriptional regulator JBrowse link 2 231,866,888 231,882,002 RGD:7240710
RGD:8554872
ALAZAMI-YUAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:8554872
RGD:7240710
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:7240710
Amish Lethal Microcephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a19 solute carrier family 25 member 19 JBrowse link 10 104,166,594 104,179,523 RGD:8554872
RGD:7240710
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
RGD:11568643
RGD:11554173
Antley-Bixler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
RGD:8554872
RGD:12801485
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
RGD:11554173
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
G Tmem120a transmembrane protein 120A JBrowse link 12 23,989,596 23,998,257 RGD:8554872
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:11554173
Arachnodactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:11554173
RGD:8554872
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:11554173
ARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:11554173
RGD:8554872
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:8554872
RGD:11554173
Arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrg6 adhesion G protein-coupled receptor G6 JBrowse link 1 8,593,342 8,751,540 RGD:8554872
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:11554173
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:8554872
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:1600548
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:13209012
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:1599481
RGD:8554872
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:1599490
RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:1599749
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:7240710
RGD:8554872
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:8554872
RGD:7240710
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:8554872
RGD:7240710
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc35a3 solute carrier family 35 member A3 JBrowse link 2 219,705,618 219,741,886 RGD:7240710
RGD:8554872
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
RGD:7240710
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:7240710
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:8554872
RGD:7240710
Asparagine Synthetase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asns asparagine synthetase (glutamine-hydrolyzing) JBrowse link 4 33,742,876 33,761,106 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G C2cd3 C2 domain containing 3 centriole elongation regulator JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Cep120 centrosomal protein 120 JBrowse link 18 48,658,495 48,720,570 RGD:11554173
G Cilk1 ciliogenesis associated kinase 1 JBrowse link 8 85,413,998 85,473,374 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:11554173
RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:11554173
RGD:8554872
G Evc EvC ciliary complex subunit 1 JBrowse link 14 78,213,601 78,253,266 RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 JBrowse link 13 109,624,167 109,629,609 RGD:8554872
G Fuz fuzzy planar cell polarity protein JBrowse link 1 100,891,832 100,896,811 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:11554173
RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:11554173
RGD:8554872
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
G Ift52 intraflagellar transport 52 JBrowse link 3 159,388,868 159,413,358 RGD:11554173
RGD:8554872
G Ift74 intraflagellar transport 74 JBrowse link 5 113,579,065 113,682,485 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 RGD:8554872
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:8554872
G Intu inturned planar cell polarity protein JBrowse link 2 127,589,325 127,611,705 RGD:8554872
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:8554872
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:11554173
RGD:8554872
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
RGD:11554173
RGD:11069733
RGD:11072153
G RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
G Sltm SAFB-like, transcription modulator JBrowse link 8 76,977,698 77,022,847 RGD:8554872
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` JBrowse link 4 95,884,020 95,945,248 RGD:13592920
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:11554173
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:11554173
RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
RGD:11554173
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:11554173
RGD:8554872
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
RGD:7240710
G Fam98c family with sequence similarity 98, member C JBrowse link 1 88,095,240 88,098,828 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:8554872
G Tmem256 transmembrane protein 256 JBrowse link 10 56,446,022 56,447,138 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:8554872
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:8554872
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
Atelosteogenesis Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
RGD:11554173
Au-Kline Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpk heterogeneous nuclear ribonucleoprotein K JBrowse link 17 6,664,730 6,676,753 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox11 SRY-box transcription factor 11 JBrowse link 6 46,629,967 46,631,988 RGD:8554872
RGD:7240710
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:13592920
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Wnt5a Wnt family member 5A JBrowse link 16 4,469,451 4,490,271 RGD:7240710
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:8554872
RGD:7240710
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
RGD:7240710
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
Autosomal Recessive Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872
autosomal recessive Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11537348
RGD:11537347
RGD:11535948
Autosomal Recessive Robinow Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nxn nucleoredoxin JBrowse link 10 64,411,710 64,550,147 RGD:7240710
RGD:8554872
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln1 fibulin 1 JBrowse link 7 126,096,793 126,176,468 RGD:8554872
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Baller-Gerold syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:7240710
RGD:8554872
Bamforth-Lazarus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:11554173
G Foxe1 forkhead box E1 JBrowse link 5 61,954,549 61,957,357 RGD:7240710
RGD:8554872
RGD:11554173
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
RGD:13592920
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:13592920
RGD:8554872
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
Barber-Say syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:8554872
RGD:7240710
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thoc6 THO complex 6 JBrowse link 10 12,989,135 12,994,495 RGD:7240710
RGD:8554872
Beemer-Langer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
Beukes hip dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1564308 similar to LOC495042 protein JBrowse link 16 49,485,022 49,509,756 RGD:8554872
G Ufsp2 UFM1-specific peptidase 2 JBrowse link 16 49,465,958 49,484,975 RGD:7240710
RGD:8554872
Birk-Barel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnk9 potassium two pore domain channel subfamily K member 9 JBrowse link 7 113,894,918 113,938,397 RGD:7240710
RGD:8554872
blepharocheilodontic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
blepharocheilodontic syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:7240710
blepharocheilodontic syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnnd1 catenin delta 1 JBrowse link 3 72,001,904 72,053,047 RGD:8554872
RGD:7240710
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
Bohring Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asxl1 ASXL transcriptional regulator 1 JBrowse link 3 148,832,231 148,902,356 RGD:7240710
RGD:8554872
RGD:11554173
Brachycephalofrontonasal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:8554872
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps23 ribosomal protein S23 JBrowse link 2 19,823,234 19,824,804 RGD:8554872
RGD:7240710
brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:9586033
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:8554872
G Chst11 carbohydrate sulfotransferase 11 JBrowse link 7 26,641,856 26,890,503 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:11554173
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743593
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:8554872
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:8554872
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:8554872
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha JBrowse link 1 60,717,386 60,736,629 RGD:8554872
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:11072411
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:11554173
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:8554872
brachydactyly type A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:12437076
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:1600032
RGD:12910974
RGD:11535949
RGD:12910970
RGD:12910965
RGD:12910964
RGD:12910945
RGD:12910944
RGD:8554872
RGD:7240710
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12798572
RGD:13592920
brachydactyly type A1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
brachydactyly type A1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:8554872
RGD:7240710
brachydactyly type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:7240710
RGD:8554872
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:7240710
RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
brachydactyly type A4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12738470
brachydactyly type B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:7240710
RGD:8554872
RGD:11537345
RGD:11535953
RGD:11535952
RGD:11535951
RGD:11535949
brachydactyly type B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:7240710
RGD:12801483
RGD:12801481
RGD:8554872
brachydactyly type C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:12738202
RGD:12738200
RGD:12437083
RGD:8554872
brachydactyly type D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:11554173
RGD:8554872
brachydactyly type E1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:8554872
RGD:11554173
brachydactyly type E2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:7240710
RGD:8554872
Brachydactyly, Type E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:11554173
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743596
brachydactyly-syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:8554872
RGD:11554173
Brain Small Vessel Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:7240710
RGD:8554872
Bruck syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:13592920
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:8554872
RGD:13592920
Bruck Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
RGD:7240710
Bruck Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:7240710
RGD:8554872
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp2 ADNP homeobox 2 JBrowse link 18 76,637,415 76,661,186 RGD:8554872
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link 18 77,343,551 77,535,608 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Galr1 galanin receptor 1 JBrowse link 18 79,243,009 79,258,570 RGD:8554872
G Hsbp1l1 heat shock factor binding protein 1-like 1 JBrowse link 18 76,748,067 76,754,642 RGD:8554872
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 76,808,294 76,880,742 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:8554872
G Nfatc1 nuclear factor of activated T-cells 1 JBrowse link 18 77,203,517 77,322,690 RGD:8554872
G Pard6g par-6 family cell polarity regulator gamma JBrowse link 18 76,559,877 76,627,843 RGD:8554872
G Rbfa ribosome binding factor A JBrowse link 18 76,704,223 76,714,387 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Slc66a2 solute carrier family 66 member 2 JBrowse link 18 76,768,466 76,805,773 RGD:8554872
G Txnl4a thioredoxin-like 4A JBrowse link 18 76,725,221 76,740,673 RGD:8554872
RGD:7240710
G Zfp236 zinc finger protein 236 JBrowse link 18 79,447,384 79,543,271 RGD:8554872
G Zfp516 zinc finger protein 516 JBrowse link 18 79,768,387 79,857,909 RGD:8554872
campomelic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox9 SRY-box transcription factor 9 JBrowse link 10 101,288,528 101,294,030 RGD:7240710
RGD:8554872
Campomelic Dysplasia with Autosomal Sex Reversal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox9 SRY-box transcription factor 9 JBrowse link 10 101,288,528 101,294,030 RGD:8554872
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prg4 proteoglycan 4 JBrowse link 13 67,672,588 67,688,902 RGD:7240710
RGD:8554872
RGD:11554173
G Tpr translocated promoter region, nuclear basket protein JBrowse link 13 67,611,685 67,672,833 RGD:8554872
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
Camptosynpolydactyly, Complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bhlha9 basic helix-loop-helix family, member a9 JBrowse link 10 63,498,267 63,500,353 RGD:7240710
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:11576280
RGD:8554872
RGD:7240710
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Meis2 Meis homeobox 2 JBrowse link 3 107,560,172 107,762,732 RGD:8554872
RGD:7240710
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link 3 5,608,243 5,617,689 RGD:8554872
RGD:7240710
Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bag2 Bcl2-associated athanogene 2 JBrowse link 9 38,456,487 38,467,120 RGD:8554872
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:11554173
G Rab23 RAB23, member RAS oncogene family JBrowse link 9 38,469,784 38,496,185 RGD:8554872
RGD:11554173
Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab23 RAB23, member RAS oncogene family JBrowse link 9 38,469,784 38,496,185 RGD:7240710
RGD:8554872
Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:7240710
RGD:8554872
Catel Manzke Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgds TDP-glucose 4,6-dehydratase JBrowse link 15 103,319,268 103,340,239 RGD:8554872
RGD:7240710
Cenani-Lenz syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:7240710
RGD:8554872
CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mab21l1 mab-21 like 1 JBrowse link 2 145,174,876 145,177,265 RGD:7240710
RGD:8554872
G Nbea neurobeachin JBrowse link 2 145,011,648 145,513,439 RGD:8554872
cerebral cavernous malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:7240710
RGD:8554872
G Nacad NAC alpha domain containing JBrowse link 14 86,860,607 86,868,605 RGD:8554872
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:7240710
RGD:8554872
cerebrocostomandibular syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 JBrowse link 3 122,696,125 122,703,734 RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:7240710
RGD:8554872
cherubism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3bp2 SH3-domain binding protein 2 JBrowse link 14 81,435,445 81,473,013 RGD:1599339
RGD:8554872
RGD:7240710
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:7240710
RGD:11554173
RGD:8554872
CHITAYAT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erf Ets2 repressor factor JBrowse link 1 82,112,449 82,120,902 RGD:8554872
RGD:7240710
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:7240710
RGD:8554872
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:7240710
RGD:8554872
chromosome 13q14 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acod1 aconitate decarboxylase 1 JBrowse link 15 93,612,968 93,622,322 RGD:8554872
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:8554872
G Arl11 ADP-ribosylation factor like GTPase 11 JBrowse link 15 41,639,985 41,645,685 RGD:8554872
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872
G Bora bora, aurora kinase A activator JBrowse link 15 83,442,217 83,463,737 RGD:8554872
G Cab39l calcium binding protein 39-like JBrowse link 15 39,745,124 39,849,022 RGD:8554872
G Ccdc70 coiled-coil domain containing 70 JBrowse link 16 74,958,897 74,963,925 RGD:8554872
G Cdadc1 cytidine and dCMP deaminase domain containing 1 JBrowse link 15 39,865,094 39,894,122 RGD:8554872
G Ckap2 cytoskeleton associated protein 2 JBrowse link 16 74,752,655 74,779,184 RGD:8554872
G Cln5 CLN5, intracellular trafficking protein JBrowse link 15 93,634,815 93,644,146 RGD:8554872
G Cnmd chondromodulin JBrowse link 15 61,923,291 61,947,840 RGD:8554872
G Commd6 COMM domain containing 6 JBrowse link 15 86,136,096 86,142,672 RGD:8554872
G Cysltr2 cysteinyl leukotriene receptor 2 JBrowse link 15 54,903,290 54,941,742 RGD:8554872
G Dach1 dachshund family transcription factor 1 JBrowse link 15 82,095,003 82,482,272 RGD:8554872
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:8554872
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link 15 83,466,330 83,494,107 RGD:8554872
G Dleu7 deleted in lymphocytic leukemia, 7 JBrowse link 15 45,360,505 45,378,840 RGD:8554872
G Ebpl EBP like JBrowse link 15 41,668,119 41,691,518 RGD:8554872
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:8554872
G Fam124a family with sequence similarity 124 member A JBrowse link 15 45,711,994 45,780,395 RGD:8554872
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 15 93,647,307 93,667,395 RGD:8554872
G Fndc3a fibronectin type III domain containing 3a JBrowse link 15 54,378,865 54,582,954 RGD:8554872
G Ints6 integrator complex subunit 6 JBrowse link 15 45,844,050 45,929,996 RGD:8554872
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:8554872
G Kcnrg potassium channel regulator JBrowse link 15 41,937,880 41,942,205 RGD:8554872
G Kctd12 potassium channel tetramerization domain containing 12 JBrowse link 15 87,384,632 87,390,627 RGD:8554872
G Klf12 Kruppel-like factor 12 JBrowse link 15 84,316,986 84,748,549 RGD:8554872
G Klf5 Kruppel-like factor 5 JBrowse link 15 83,703,796 83,722,921 RGD:8554872
G Klhl1 kelch-like family member 1 JBrowse link 15 80,270,846 80,714,176 RGD:8554872
G Kpna3 karyopherin subunit alpha 3 JBrowse link 15 41,696,356 41,770,112 RGD:8554872
G Lmo7 LIM domain 7 JBrowse link 15 86,242,911 86,458,512 RGD:8554872
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link 15 55,126,953 55,128,762 RGD:8554872
G Med4 mediator complex subunit 4 JBrowse link 15 55,406,543 55,416,816 RGD:8554872
G Mycbp2 MYC binding protein 2 JBrowse link 15
15
87,405,472
93,678,062
87,450,812
93,901,556
RGD:8554872
G Mzt1 mitotic spindle organizing protein 1 JBrowse link 15 83,429,437 83,442,118 RGD:8554872
G Ndfip2 Nedd4 family interacting protein 2 JBrowse link 15 89,407,426 89,458,983 RGD:8554872
G Nek3 NIMA-related kinase 3 JBrowse link 16 74,781,371 74,806,567 RGD:8554872
G Nek5 NIMA-related kinase 5 JBrowse link 16 74,809,513 74,851,895 RGD:8554872
G Nudt15 nudix hydrolase 15 JBrowse link 15 55,417,774 55,456,698 RGD:8554872
G Obi1 ORC ubiquitin ligase 1 JBrowse link 15 88,632,089 88,670,325 RGD:8554872
G Olfm4 olfactomedin 4 JBrowse link 15 62,384,263 62,429,450 RGD:8554872
G Pcdh17 protocadherin 17 JBrowse link 15 67,555,835 67,647,990 RGD:8554872
G Pcdh20 protocadherin 20 JBrowse link 15 71,772,777 71,779,033 RGD:8554872
G Pcdh8 protocadherin 8 JBrowse link 15 62,196,469 62,201,498 RGD:8554872
G Pcdh9 protocadherin 9 JBrowse link 15 76,787,108 77,738,668 RGD:8554872
G Phf11 PHD finger protein 11 JBrowse link 15 38,692,817 39,683,417 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G Pou4f1 POU class 4 homeobox 1 JBrowse link 15 88,618,255 88,622,712 RGD:8554872
G Prr20e proline rich 20E JBrowse link 4 121,040,810 121,053,910 RGD:8554872
G Rb1 RB transcriptional corepressor 1 JBrowse link 15 55,081,582 55,209,060 RGD:8554872
G Rbm26 RNA binding motif protein 26 JBrowse link 15 89,262,683 89,339,323 RGD:8554872
G Rcbtb1 RCC1 and BTB domain containing protein 1 JBrowse link 15 39,622,572 39,665,335 RGD:8554872
G Rcbtb2 RCC1 and BTB domain containing protein 2 JBrowse link 15 55,029,388 55,074,728 RGD:8554872
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
G Scel sciellin JBrowse link 15 87,689,190 87,820,731 RGD:8554872
G Serpine3 serpin family E member 3 JBrowse link 15 45,827,983 45,855,952 RGD:8554872
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 JBrowse link 15 38,699,135 39,745,035 RGD:8554872
G Slain1 SLAIN motif family, member 1 JBrowse link 15 87,862,832 87,906,472 RGD:8554872
G Slitrk1 SLIT and NTRK-like family, member 1 JBrowse link 15 93,303,382 93,307,420 RGD:8554872
G Slitrk6 SLIT and NTRK-like family, member 6 JBrowse link 15 95,507,632 95,514,259 RGD:8554872
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:8554872
G Spryd7 SPRY domain containing 7 JBrowse link 15 41,871,144 41,890,879 RGD:8554872
G Sucla2 succinate-CoA ligase ADP-forming beta subunit JBrowse link 15 55,461,695 55,516,954 RGD:8554872
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone JBrowse link 15 61,873,158 61,913,983 RGD:8554872
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 15 85,927,978 86,105,829 RGD:8554872
G Tdrd3 tudor domain containing 3 JBrowse link 15 70,732,164 70,864,855 RGD:8554872
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link 16 74,680,621 74,712,368 RGD:8554872
G Trim13 tripartite motif-containing 13 JBrowse link 15 41,897,191 41,936,545 RGD:8554872
G Uchl3 ubiquitin C-terminal hydrolase L3 JBrowse link 15 86,153,624 86,198,127 RGD:8554872
G Vps36 vacuolar protein sorting 36 homolog JBrowse link 16 74,719,642 74,743,921 RGD:8554872
G Wdfy2 WD repeat and FYVE domain containing 2 JBrowse link 15 46,008,613 46,134,319 RGD:8554872
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
RGD:11554173
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp6 acid phosphatase 6, lysophosphatidic JBrowse link 2 199,284,177 199,305,793 RGD:8554872
G Bcl9 BCL9, transcription coactivator JBrowse link 2 199,334,644 199,420,083 RGD:8554872
G Chd1l chromodomain helicase DNA binding protein 1-like JBrowse link 2 199,714,044 199,792,270 RGD:8554872
G Fmo5 flavin containing dimethylaniline monoxygenase 5 JBrowse link 2 199,796,870 199,823,927 RGD:8554872
G Gja5 gap junction protein, alpha 5 JBrowse link 2 199,162,745 199,184,942 RGD:8554872
RGD:11554173
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:8554872
RGD:11554173
G Gpr89b G protein-coupled receptor 89B JBrowse link 2 198,999,945 199,038,702 RGD:8554872
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 JBrowse link 2 199,831,990 199,847,623 RGD:8554872
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc116 coiled-coil domain containing 116 JBrowse link 11 88,092,794 88,100,220 RGD:8554872
G Mapk1 mitogen activated protein kinase 1 JBrowse link 11 88,203,863 88,273,301 RGD:8554872
G Mir130b microRNA 130b JBrowse link 11 88,129,773 88,129,854 RGD:8554872
G Ppil2 peptidylprolyl isomerase like 2 JBrowse link 11 88,147,342 88,169,968 RGD:8554872
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F JBrowse link 11 88,313,709 88,343,726 RGD:8554872
G Prame preferentially expressed antigen in melanoma JBrowse link X 106,082,984 106,091,256 RGD:8554872
G Rimbp3 RIMS binding protein 3 JBrowse link 11 88,033,213 88,039,002 RGD:8554872
G Sdf2l1 stromal cell-derived factor 2-like 1 JBrowse link 11 88,122,271 88,124,513 RGD:8554872
G Tmem191c transmembrane protein 191C JBrowse link 11 87,975,508 87,982,861 RGD:8554872
G Top3b DNA topoisomerase III beta JBrowse link 11 88,346,305 88,374,896 RGD:8554872
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 JBrowse link 11 88,047,186 88,088,477 RGD:8554872
G Vpreb1 V-set pre-B cell surrogate light chain 1 JBrowse link 11 88,376,256 88,377,133 RGD:8554872
G Ydjc YdjC chitooligosaccharide deacetylase homolog JBrowse link 11 88,089,142 88,094,254 RGD:8554872
G Ypel1 yippee-like 1 JBrowse link 11 88,171,401 88,186,000 RGD:8554872
G Zfp280b zinc finger protein 280B JBrowse link 20 13,566,381 13,581,215 RGD:8554872
CK Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:7240710
RGD:8554872
cleft lip term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:11554173
G Arhgap29 Rho GTPase activating protein 29 JBrowse link 2 225,552,075 225,613,349 RGD:8554872
G Bhmt2 betaine-homocysteine S-methyltransferase 2 JBrowse link 2 23,272,320 23,289,266 RGD:11554173
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8554872
RGD:13442497
RGD:13442495
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:1599548
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:8554872
G Fgf1 fibroblast growth factor 1 JBrowse link 18 32,273,830 32,359,831 RGD:11567264
G Fgf10 fibroblast growth factor 10 JBrowse link 2 51,673,480 51,747,533 RGD:11554173
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:11554173
G Fgf3 fibroblast growth factor 3 JBrowse link 1 218,003,018 218,006,942 RGD:11554173
G Fgf7 fibroblast growth factor 7 JBrowse link 3 118,315,859 118,368,464 RGD:11554173
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11554173
RGD:11567264
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:11554173
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:12798509
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:1600214
RGD:8554872
RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11553833
G Mafb MAF bZIP transcription factor B JBrowse link 3 156,338,993 156,340,913 RGD:11554173
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:5132609
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12910961
RGD:12910962
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
RGD:11565179
G Mthfs methenyltetrahydrofolate synthetase JBrowse link 8 96,564,877 96,614,386 RGD:11554173
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:11554173
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:11554173
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:1599795
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:12801482
RGD:11251786
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11554173
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:11532685
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:11554173
G Sdc2 syndecan 2 JBrowse link 7 71,572,731 71,686,139 RGD:12798509
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:11554173
RGD:11565176
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:11554173
G Sumo1 small ubiquitin-like modifier 1 JBrowse link 9 66,453,428 66,483,614 RGD:11554173
RGD:8554872
G Tcn2 transcobalamin 2 JBrowse link 14 84,173,992 84,189,299 RGD:11554173
G Tmco1 transmembrane and coiled-coil domains 1 JBrowse link 13 85,465,015 85,559,113 RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
RGD:8554872
G Tyms thymidylate synthetase JBrowse link 9 121,918,875 121,931,564 RGD:11554173
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:7240710
RGD:11554173
RGD:8554872
cleft palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bhmt2 betaine-homocysteine S-methyltransferase 2 JBrowse link 2 23,272,320 23,289,266 RGD:11554173
G Bnc2 basonuclin 2 JBrowse link 5 102,407,508 102,807,389 RGD:11554173
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:11554173
RGD:11576291
G Cbfb core-binding factor subunit beta JBrowse link 19 37,127,508 37,171,075 RGD:11554173
G Chuk component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 1 263,848,829 263,884,354 RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:12436724
RGD:12904711
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:11554173
RGD:12436724
G Dlg1 discs large MAGUK scaffold protein 1 JBrowse link 11 72,164,566 72,378,895 RGD:11554173
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:8554872
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:11554173
G Fgf10 fibroblast growth factor 10 JBrowse link 2 51,673,480 51,747,533 RGD:11554173
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:11554173
G Fgf3 fibroblast growth factor 3 JBrowse link 1 218,003,018 218,006,942 RGD:11554173
G Fgf7 fibroblast growth factor 7 JBrowse link 3 118,315,859 118,368,464 RGD:11554173
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11554173
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:11554173
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:12791026
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:11554173
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:13208933
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:12798509
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12738224
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Golgb1 golgin B1 JBrowse link 11 66,761,646 66,819,115 RGD:13592920
G Grhl3 grainyhead-like transcription factor 3 JBrowse link 5 153,893,039 153,925,045 RGD:8554872
G Inpp1 inositol polyphosphate-1-phosphatase JBrowse link 9 53,544,602 53,574,303 RGD:8554872
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:1600214
RGD:12436724
RGD:8554872
RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11554173
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:11554173
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:5132609
RGD:11554173
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12914151
G Mthfs methenyltetrahydrofolate synthetase JBrowse link 8 96,564,877 96,614,386 RGD:11554173
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:11554173
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:11554173
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:1599795
G Nedd4l NEDD4 like E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:11554173
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
G Nfia nuclear factor I/A JBrowse link 5 116,421,895 116,750,381 RGD:8554872
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11554173
G Pax9 paired box 9 JBrowse link 6 77,607,705 77,624,453 RGD:12801424
G Pdgfra platelet derived growth factor receptor alpha JBrowse link 14 35,527,926 35,581,130 RGD:11554173
RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:12910559
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:11554173
G Rarg retinoic acid receptor, gamma JBrowse link 7 143,840,739 143,863,206 RGD:11554173
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:11535950
G Ryk receptor-like tyrosine kinase JBrowse link 8 111,326,339 111,398,640 RGD:11554173
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:11554173
RGD:8554872
G Sdc2 syndecan 2 JBrowse link 7 71,572,731 71,686,139 RGD:12798509
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801424
G Shox2 short stature homeobox 2 JBrowse link 2 164,118,175 164,126,783 RGD:12859081
G Sim2 SIM bHLH transcription factor 2 JBrowse link 11 34,315,739 34,355,183 RGD:11554173
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:11554173
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:11554173
G Sumo1 small ubiquitin-like modifier 1 JBrowse link 9 66,453,428 66,483,614 RGD:11554173
G Tbx22 T-box transcription factor 22 JBrowse link X 78,731,738 78,782,542 RGD:724722
RGD:8554872
G Tenm4 teneurin transmembrane protein 4 JBrowse link 1 161,183,858 161,885,094 RGD:8554872
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:11554173
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:12801424
RGD:11554173
G Tmco1 transmembrane and coiled-coil domains 1 JBrowse link 13 85,465,015 85,559,113 RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
G Tyms thymidylate synthetase JBrowse link 9 121,918,875 121,931,564 RGD:11554173
Cleft Palate with Ankyloglossia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx22 T-box transcription factor 22 JBrowse link X 78,731,738 78,782,542 RGD:8554872
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm1a lysine demethylase 1A JBrowse link 5 154,909,003 154,965,171 RGD:7240710
RGD:8554872
cleft palate-lateral synechia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13592920
cleft soft palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:8554872
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:13592920
cleidocranial dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cebpb CCAAT/enhancer binding protein beta JBrowse link 3 164,424,502 164,425,933 RGD:13592920
G Rnf146 ring finger protein 146 JBrowse link 1 30,856,923 30,873,814 RGD:13592920
G Runx2 RUNX family transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:1601649
RGD:8554872
RGD:11554173
RGD:7240710
G Supt3h SPT3 homolog, SAGA and STAGA complex component JBrowse link 9 18,249,565 18,604,814 RGD:8554872
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 RUNX family transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:8554872
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 RUNX family transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:8554872
CLOVES syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:7240710
RGD:8554872
RGD:13207409
clubfoot term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:11554173
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:11576307
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Fkbp8 FKBP prolyl isomerase 8 JBrowse link 16 20,645,956 20,652,890 RGD:13592920
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:12791025
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:13592920
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12738235
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:13592920
G Hoxd12 homeo box D12 JBrowse link 3 61,597,382 61,598,503 RGD:12743594
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743594
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:8554872
G Lmx1b LIM homeobox transcription factor 1 beta JBrowse link 3 12,608,748 12,686,937 RGD:11554173
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
G Pitx1 paired-like homeodomain 1 JBrowse link 17 8,873,184 8,884,428 RGD:7240710
RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:13592920
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 JBrowse link 1 219,126,687 219,139,466 RGD:13592920
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Vangl1 VANGL planar cell polarity protein 1 JBrowse link 2 204,575,592 204,625,835 RGD:8554872
cocoon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chuk component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 1 263,848,829 263,884,354 RGD:7240710
RGD:8554872
CODAS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lonp1 lon peptidase 1, mitochondrial JBrowse link 9 10,428,853 10,441,180 RGD:8554872
RGD:7240710
Coffin-Siris syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
RGD:13592920
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:11526783
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:8554872
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 10 87,116,827 87,138,890 RGD:8554872
Coffin-Siris syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:7240710
G Dpf2 double PHD fingers 2 JBrowse link 1 221,253,764 221,269,043 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
Coffin-Siris Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox4 SRY-box transcription factor 4 JBrowse link 17 37,615,022 37,619,728 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:7240710
RGD:8554872
Coffin-Siris Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 10 87,116,827 87,138,890 RGD:8554872
RGD:7240710
Coffin-Siris syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid2 AT-rich interaction domain 2 JBrowse link 7 137,680,564 137,798,329 RGD:8554872
RGD:7240710
Coffin-Siris Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpf2 double PHD fingers 2 JBrowse link 1 221,253,764 221,269,043 RGD:8554872
RGD:7240710
Coffin-Siris Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 JBrowse link 7 2,875,898 2,905,463 RGD:7240710
RGD:8554872
Cohen Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir875 microRNA 875 JBrowse link 7 74,423,233 74,423,305 RGD:8554872
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:7240710
RGD:8554872
RGD:11554173
Cohen-Gibson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eed embryonic ectoderm development JBrowse link 1 154,189,252 154,216,340 RGD:8554872
RGD:7240710
cold-induced sweating syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcf1 cardiotrophin-like cytokine factor 1 JBrowse link 1 219,468,866 219,472,445 RGD:11554173
G Crlf1 cytokine receptor-like factor 1 JBrowse link 16 20,675,042 20,686,365 RGD:11554173
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:11554173
cold-induced sweating syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crlf1 cytokine receptor-like factor 1 JBrowse link 16 20,675,042 20,686,365 RGD:7240710
RGD:8554872
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
cold-induced sweating syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcf1 cardiotrophin-like cytokine factor 1 JBrowse link 1 219,468,866 219,472,445 RGD:7240710
RGD:8554872
cold-induced sweating syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
RGD:7240710
Cole-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:8554872
RGD:11554173
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:11554173
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:7240710
RGD:8554872
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:7240710
RGD:8554872
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link 15 4,351,292 4,353,694 RGD:7240710
RGD:8554872
Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:7240710
RGD:8554872
Congenital Cataracts, Facial Dysmorphism, and Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:7240710
RGD:8554872
Congenital Contractural Arachnodactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:1300364
RGD:8554872
RGD:7240710
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:8554872
RGD:7240710
Congenital Foot Deformities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11098154
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:11554173
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
Congenital Hand Deformities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:11554173
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:11554173
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:11554173
G Sox9 SRY-box transcription factor 9 JBrowse link 10 101,288,528 101,294,030 RGD:11554173
G Tfap2b transcription factor AP-2 beta JBrowse link 9 25,410,669 25,440,568 RGD:11554173
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk13 cyclin-dependent kinase 13 JBrowse link 17 49,833,194 49,922,932 RGD:8554872
RGD:7240710
Congenital Hip Dislocation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
Congenital Limb Deformities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068432
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:1334470
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:11554173
G Chuk component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 1 263,848,829 263,884,354 RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:11554173
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
G Gpc6 glypican 6 JBrowse link 15 102,164,091 103,174,721 RGD:11554173
G Hapln1 hyaluronan and proteoglycan link protein 1 JBrowse link 2 18,354,542 18,419,077 RGD:11554173
G Hoxa11 homeobox A11 JBrowse link 4 82,296,888 82,301,419 RGD:11554173
G Hoxd11 homeobox D11 JBrowse link 3 61,604,256 61,606,874 RGD:11554173
G Hoxd12 homeo box D12 JBrowse link 3 61,597,382 61,598,503 RGD:11554173
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:11554173
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:1600214
RGD:11554173
G Sall1 spalt-like transcription factor 1 JBrowse link 19 23,387,737 23,405,025 RGD:11554173
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11554173
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801441
G Tbx3 T-box transcription factor 3 JBrowse link 12 42,479,518 42,494,588 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:11554173
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
RGD:11568637
congenital myasthenic syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit JBrowse link 10 56,390,671 56,403,255 RGD:8554872
RGD:7240710
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit JBrowse link 10 56,390,671 56,403,255 RGD:11554173
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:11554173
G Musk muscle associated receptor tyrosine kinase JBrowse link 5 75,392,790 75,498,694 RGD:11554173
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:11554173
RGD:8554872
Congenital Symmetric Circumferential Skin Creases 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb5 tubulin, beta 5 class I JBrowse link 20 3,422,448 3,426,420 RGD:7240710
Congenital Symmetric Circumferential Skin Creases 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mapre2 microtubule-associated protein, RP/EB family, member 2 JBrowse link 18 14,814,149 15,780,290 RGD:7240710
RGD:8554872
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
RGD:7240710
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igbp1 immunoglobulin binding protein 1 JBrowse link X 70,322,764 70,345,005 RGD:7240710
RGD:8554872
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd4a FERM domain containing 4A JBrowse link 17 77,642,302 77,918,210 RGD:8554872
RGD:7240710
Costello syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:11554173
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:7240710
RGD:8554872
RGD:11070051
RGD:11085804
RGD:11554173
RGD:10412308
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:11554173
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:11554173
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
Cousin Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx15 T-box transcription factor 15 JBrowse link 2 201,289,042 201,390,752 RGD:11554173
RGD:7240710
RGD:8554872
Craniodiaphyseal Dysplasia, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:7240710
RGD:8554872
Cranioectodermal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:8554872
RGD:7240710
Cranioectodermal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spag17 sperm associated antigen 17 JBrowse link 2 202,159,659 202,452,361 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:7240710
RGD:8554872
RGD:11553909
Cranioectodermal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:7240710
RGD:8554872
Cranioectodermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
RGD:11552606
Craniofacial Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:11554173
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:11554173
G Alx1 ALX homeobox 1 JBrowse link 7 44,751,865 44,771,458 RGD:11554173
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:11554173
G Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:11554173
G Anxa1 annexin A1 JBrowse link 1 237,893,983 237,910,002 RGD:11554173
G Apaf1 apoptotic peptidase activating factor 1 JBrowse link 7 31,699,309 31,784,192 RGD:11554173
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:11554173
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:11554173
G B3gat3 beta-1,3-glucuronyltransferase 3 JBrowse link 1 225,120,061 225,126,579 RGD:11554173
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:11554173
G Bmpr1a bone morphogenetic protein receptor type 1A JBrowse link 16 10,758,278 10,852,170 RGD:11554173
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:11554173
G Bnc2 basonuclin 2 JBrowse link 5 102,407,508 102,807,389 RGD:11554173
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:11554173
G Cntn4 contactin 4 JBrowse link 4 137,785,166 138,787,527 RGD:11554173
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:11554173
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:11554173
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Csnk1a1 casein kinase 1, alpha 1 JBrowse link 18 56,887,722 56,910,610 RGD:11554173
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:11554173
G Dcaf7 DDB1 and CUL4 associated factor 7 JBrowse link 10 94,231,585 94,254,046 RGD:11554173
G Dll3 delta like canonical Notch ligand 3 JBrowse link 1 85,485,875 85,493,683 RGD:11554173
G Dlx1 distal-less homeobox 1 JBrowse link 3 58,164,931 58,169,521 RGD:11554173
G Dlx2 distal-less homeobox 2 JBrowse link 3 58,180,088 58,181,971 RGD:11554173
G Dlx5 distal-less homeobox 5 JBrowse link 4 32,387,741 32,392,085 RGD:11554173
G Dlx6 distal-less homeobox 6 JBrowse link 4 32,373,096 32,377,388 RGD:11554173
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:11554173
G Dnmt3b DNA methyltransferase 3 beta JBrowse link 3 149,131,541 149,170,061 RGD:11554173
G Ece1 endothelin converting enzyme 1 JBrowse link 5 156,215,469 156,318,652 RGD:11554173
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:734913
RGD:11554173
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:11554173
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:11554173
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:11554173
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Erf Ets2 repressor factor JBrowse link 1 82,112,449 82,120,902 RGD:11554173
G Ets2 ETS proto-oncogene 2, transcription factor JBrowse link 11 36,075,709 36,092,495 RGD:11554173
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:11554173
G Fadd Fas associated via death domain JBrowse link 1 217,746,176 217,748,581 RGD:11554173
G Fam83h family with sequence similarity 83, member H JBrowse link 7 117,062,748 117,070,936 RGD:11554173
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:11554173
G Fgf3 fibroblast growth factor 3 JBrowse link 1 218,003,018 218,006,942 RGD:11554173
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11554173
RGD:11251832
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
RGD:11251832
G Fmr1 FMRP translational regulator 1 JBrowse link X 154,684,924 154,722,369 RGD:11554173
G Folr1 folate receptor alpha JBrowse link 1 166,934,457 166,945,864 RGD:11554173
G Foxc2 forkhead box C2 JBrowse link 19 53,044,379 53,047,081 RGD:11554173
G Foxi1 forkhead box I1 JBrowse link 10 19,160,566 19,164,505 RGD:11554173
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11554173
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554185
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:11554173
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:11554173
G Gata2 GATA binding protein 2 JBrowse link 4 120,129,028 120,142,490 RGD:11554173
G Gna11 G protein subunit alpha 11 JBrowse link 7 11,033,400 11,047,284 RGD:737757
G Gnaq G protein subunit alpha q JBrowse link 1 233,382,778 233,622,584 RGD:737757
RGD:11554173
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link 11 86,520,992 86,522,169 RGD:11554173
G Gpc4 glypican 4 JBrowse link X 139,354,325 139,464,876 RGD:11554173
G Gpc6 glypican 6 JBrowse link 15 102,164,091 103,174,721 RGD:11554173
G Gsc goosecoid homeobox JBrowse link 6 128,147,181 128,149,220 RGD:11554173
G Gtf2ird1 GTF2I repeat domain containing 1 JBrowse link 12 25,264,052 25,370,947 RGD:11554173
G Hapln1 hyaluronan and proteoglycan link protein 1 JBrowse link 2 18,354,542 18,419,077 RGD:11554173
G Hmx1 H6 family homeobox 1 JBrowse link 14 80,540,558 80,544,607 RGD:11554173
G Hoxa1 homeobox A1 JBrowse link 4 82,124,358 82,127,182 RGD:11554173
G Hoxa3 homeobox A3 JBrowse link 4 82,137,802 82,181,836 RGD:11554173
G Hoxb1 homeo box B1 JBrowse link 10 84,214,358 84,215,812 RGD:11554173
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:11554173
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 1 141,874,354 141,893,674 RGD:11554173
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:11554173
G Irx5 iroquois homeobox 5 JBrowse link 19 16,415,813 16,421,088 RGD:11554173
G Itgb1bp1 integrin subunit beta 1 binding protein 1 JBrowse link 6 43,348,927 43,363,633 RGD:11554173
G Jag2 jagged canonical Notch ligand 2 JBrowse link 6 137,711,144 137,733,331 RGD:11554173
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:11554173
G Kif3a kinesin family member 3a JBrowse link 10 38,918,705 38,953,958 RGD:11554173
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 JBrowse link 14 82,227,790 82,267,298 RGD:11554173
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:11554173
G Lpar1 lysophosphatidic acid receptor 1 JBrowse link 5 75,557,038 75,678,067 RGD:11554173
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:11554173
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
G Mbtps1 membrane-bound transcription factor peptidase, site 1 JBrowse link 19 52,146,507 52,206,310 RGD:11554173
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:11554173
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:11554173
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:11554173
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:11554173
G Msl3 MSL complex subunit 3 JBrowse link X 27,015,826 27,033,562 RGD:11554173
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:11554173
G Msx2 msh homeobox 2 JBrowse link 17 11,683,862 11,689,527 RGD:1600492
RGD:11554173
G Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like JBrowse link 1 40,529,092 40,719,232 RGD:12914149
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:11554173
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:11554173
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:11554173
G Nrxn1 neurexin 1 JBrowse link 6 13,886,757 15,191,660 RGD:11554173
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:11554173
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pbx4 PBX homeobox 4 JBrowse link 16 21,303,117 21,338,771 RGD:11554173
G Pdgfra platelet derived growth factor receptor alpha JBrowse link 14 35,527,926 35,581,130 RGD:11554173
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:11554173
G Prkra protein activator of interferon induced protein kinase EIF2AK2 JBrowse link 3 63,489,081 63,507,918 RGD:11554173
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:11554173
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
G Rad23b RAD23 homolog B, nucleotide excision repair protein JBrowse link 5 72,103,704 72,141,701 RGD:11554173
G Rai1 retinoic acid induced 1 JBrowse link 10 46,511,271 46,571,591 RGD:11554173
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:11554173
G Rcan1 regulator of calcineurin 1 JBrowse link 11 32,539,689 32,620,274 RGD:11554173
G Rdh10 retinol dehydrogenase 10 JBrowse link 5 2,605,265 2,631,905 RGD:11554173
G Runx2 RUNX family transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:11554173
G Ryk receptor-like tyrosine kinase JBrowse link 8 111,326,339 111,398,640 RGD:11554173
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:11554173
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11554173
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:11554173
G Sec61a1 Sec61 translocon alpha 1 subunit JBrowse link 4 120,453,577 120,467,932 RGD:11554173
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:11554173
G Sh3pxd2b SH3 and PX domains 2B JBrowse link 10 17,209,152 17,296,449 RGD:11554173
G Sim2 SIM bHLH transcription factor 2 JBrowse link 11 34,315,739 34,355,183 RGD:11554173
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:11554173
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:11554173
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:11554173
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:11554173
G Slc35d1 solute carrier family 35 member D1 JBrowse link 5 122,700,396 122,746,815 RGD:11554173
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:11554173
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:11554173
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:11554173
G Sox9 SRY-box transcription factor 9 JBrowse link 10 101,288,528 101,294,030 RGD:11554173
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:11554173
G Srp68 signal recognition particle 68 JBrowse link 10 105,123,324 105,150,080 RGD:11554173
G Stra6 stimulated by retinoic acid 6 JBrowse link 8 62,925,364 62,944,438 RGD:11554173
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:11554173
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:11554173
G Tbx1 T-box transcription factor 1 JBrowse link 11 86,552,022 86,561,647 RGD:11554173
G Tbx15 T-box transcription factor 15 JBrowse link 2 201,289,042 201,390,752 RGD:11554173
G Tcf4 transcription factor 4 JBrowse link 18 65,285,320 65,507,983 RGD:11554173
G Tcof1 treacle ribosome biogenesis factor 1 JBrowse link 18 56,081,863 56,115,719 RGD:11554173
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:11554173
G Tfap2b transcription factor AP-2 beta JBrowse link 9 25,410,669 25,440,568 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:11554173
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:11554173
G Thrb thyroid hormone receptor beta JBrowse link 15 8,890,578 9,239,815 RGD:11554173
G Tmco1 t