ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant disease
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Accession:DOID:0050736 term browser browse the term
Definition:An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (DO)
Synonyms:primary_id: RDO:9002039
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant disease 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:13592920
ABCD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:7240710
RGD:8554872
abdominal obesity-metabolic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctf1 cardiotrophin 1 JBrowse link 1 199,162,319 199,168,296 RGD:13592920
G Gucy2c guanylate cyclase 2C JBrowse link 4 170,659,993 170,740,274 RGD:13592920
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:13592920
G Neil1 nei-like DNA glycosylase 1 JBrowse link 8 61,817,258 61,824,023 RGD:13592920
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 7 126,618,872 126,687,282 RGD:11554173
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:13592920
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:7241841
G Prkci protein kinase C, iota JBrowse link 2 115,941,998 116,002,550 RGD:13592920
G Sirt3 sirtuin 3 JBrowse link 1 213,613,502 213,636,061 RGD:13592920
abdominal obesity-metabolic syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 39,553,903 39,603,326 RGD:13782087
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:13792503
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:13792503
G Fadd Fas associated via death domain JBrowse link 1 217,746,176 217,748,581 RGD:13792503
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:13792561
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:13592920
G Lpl lipoprotein lipase JBrowse link 16 22,537,687 22,561,487 RGD:13794382
G Mttp microsomal triglyceride transfer protein JBrowse link 2 243,366,181 243,407,608 RGD:8554872
RGD:7240710
G Tp53inp1 tumor protein p53 inducible nuclear protein 1 JBrowse link 5 24,402,895 24,419,651 RGD:13592920
abdominal obesity-metabolic syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahdc1 AT hook, DNA binding motif, containing 1 JBrowse link 5 151,209,894 151,277,192 RGD:8554872
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B JBrowse link 1 85,112,819 85,120,840 RGD:7240710
RGD:8554872
Abdominal Obesity-Metabolic Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipe lipase E, hormone sensitive type JBrowse link 1 82,248,031 82,266,727 RGD:8554872
ablepharon macrostomia 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:7240710
RGD:8554872
achondrogenesis type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
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
acrokeratosis verruciformis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 39,553,903 39,603,326 RGD:8554872
RGD:7240710
adult hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:7240710
RGD:8554872
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
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:10044243
RGD:8554872
RGD:7240710
advanced sleep phase syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aanat aralkylamine N-acetyltransferase JBrowse link 10 105,568,091 105,572,407 RGD:1300232
RGD:7240710
RGD:11554173
G Bhlhe40 basic helix-loop-helix family, member e40 JBrowse link 4 140,703,619 140,709,319 RGD:11554173
G Cry1 cryptochrome circadian regulator 1 JBrowse link 7 24,534,593 24,634,098 RGD:7240710
RGD:11554173
G Nfil3 nuclear factor, interleukin 3 regulated JBrowse link 17 12,261,102 12,276,316 RGD:11554173
G Per2 period circadian regulator 2 JBrowse link 9 98,555,154 98,597,362 RGD:1600411
RGD:8554872
G Per3 period circadian regulator 3 JBrowse link 5 168,088,126 168,123,482 RGD:1358557
G Rorc RAR-related orphan receptor C JBrowse link 2 195,612,471 195,636,797 RGD:11554173
advanced sleep phase syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csnk1d casein kinase 1, delta JBrowse link 10 110,147,786 110,182,413 RGD:11554173
G Per2 period circadian regulator 2 JBrowse link 9 98,555,154 98,597,362 RGD:7240710
RGD:8554872
G Per3 period circadian regulator 3 JBrowse link 5 168,088,126 168,123,482 RGD:11554173
advanced sleep phase syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csnk1d casein kinase 1, delta JBrowse link 10 110,147,786 110,182,413 RGD:7240710
RGD:8554872
advanced sleep phase syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Per3 period circadian regulator 3 JBrowse link 5 168,088,126 168,123,482 RGD:8554872
RGD:7240710
age related macular degeneration 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:8554872
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:13592920
G Ccr2 C-C motif chemokine receptor 2 RGD:13592920
G Cd46 CD46 molecule JBrowse link 13 113,786,525 113,818,741 RGD:13592920
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:8554872
G Mdm1 Mdm1 nuclear protein JBrowse link 7 61,165,652 61,200,865 RGD:13592920
G RGD1564614 similar to complement factor H-related protein JBrowse link 13 56,889,669 56,958,549 RGD:8554872
age related macular degeneration 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:7240710
RGD:8554872
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:7240710
G Cryba1 crystallin, beta A1 JBrowse link 10 65,160,777 65,167,504 RGD:13592920
G Hmcn1 hemicentin 1 JBrowse link 13 67,799,791 68,360,664 RGD:7240710
RGD:8554872
G RGD1564614 similar to complement factor H-related protein JBrowse link 13 56,889,669 56,958,549 RGD:7240710
RGD:8554872
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:13592920
age related macular degeneration 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7240710
age related macular degeneration 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cst3 cystatin C JBrowse link 3 143,219,671 143,223,544 RGD:7240710
RGD:8554872
age related macular degeneration 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:7240710
age related macular degeneration 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:7240710
RGD:8554872
age related macular degeneration 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2 complement C2 JBrowse link 20 4,542,340 4,561,152 RGD:7240710
RGD:8554872
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7240710
RGD:8554872
age related macular degeneration 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C9 complement C9 JBrowse link 2 55,775,562 55,823,807 RGD:8554872
RGD:7240710
age related macular degeneration 2 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:7240710
RGD:8554872
Age Related Macular Degeneration 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:7240710
RGD:8554872
age related macular degeneration 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:7240710
RGD:8554872
age related macular degeneration 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
age related macular degeneration 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7401252
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7401252
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7240710
RGD:8554872
RGD:7394722
RGD:7394721
RGD:7394719
RGD:7394713
RGD:7387295
age related macular degeneration 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7240710
RGD:8554872
Alexander Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:7240710
RGD:8554872
Alzheimer's disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A2m alpha-2-macroglobulin JBrowse link 4 154,309,426 154,359,138 RGD:7240710
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:8554872
RGD:7240710
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:7240710
G Mpo myeloperoxidase JBrowse link 10 75,087,892 75,098,260 RGD:7240710
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:7240710
G Plau plasminogen activator, urokinase JBrowse link 15 3,644,296 3,650,765 RGD:7240710
Alzheimer's disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:7240710
RGD:8554872
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:8554872
Alzheimer's disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif5c kinesin family member 5C JBrowse link 3 35,014,157 35,257,417 RGD:12859086
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:7240710
RGD:8554872
Alzheimer's disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11554173
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:8554872
G Psen2 presenilin 2 JBrowse link 13 98,513,600 98,539,347 RGD:7240710
RGD:8554872
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:8554872
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:11554173
RGD:8554872
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:8554872
amelogenesis imperfecta type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb3 laminin subunit beta 3 JBrowse link 13 112,031,614 112,073,187 RGD:7240710
RGD:8554872
amelogenesis imperfecta type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx3 distal-less homeobox 3 JBrowse link 10 82,937,971 82,943,367 RGD:8554872
G Enam enamelin JBrowse link 14 21,194,635 21,219,529 RGD:1598908
RGD:8554872
RGD:7240710
amelogenesis imperfecta type 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam83h family with sequence similarity 83, member H JBrowse link 7 117,062,748 117,070,936 RGD:7240710
RGD:8554872
amelogenesis imperfecta type 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amtn amelotin JBrowse link 14 21,282,488 21,301,966 RGD:7240710
amelogenesis imperfecta type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx3 distal-less homeobox 3 JBrowse link 10 82,937,971 82,943,367 RGD:7240710
RGD:8554872
Andersen-Tawil syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj2 potassium voltage-gated channel subfamily J member 2 JBrowse link 10 99,429,337 99,442,520 RGD:7240710
RGD:8554872
RGD:11554173
G Kcnj5 potassium voltage-gated channel subfamily J member 5 JBrowse link 8 33,435,493 33,463,410 RGD:8554872
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
Anterior Segment Dysgenesis 3 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:7240710
RGD:8554872
Anterior Segment Dysgenesis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
APP-related cerebral amyloid angiopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:11554173
RGD:8554872
RGD:7240710
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg2 desmoglein 2 JBrowse link 18 15,579,322 15,637,720 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:7240710
RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
arrhythmogenic right ventricular dysplasia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg2 desmoglein 2 JBrowse link 18 15,579,322 15,637,720 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsc2 desmocollin 2 JBrowse link 18 11,826,705 11,858,801 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnna3 catenin alpha 3 JBrowse link 20 25,063,124 26,640,428 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpsa ribosomal protein SA JBrowse link 8 128,806,053 128,809,987 RGD:13592920
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Dsc2 desmocollin 2 JBrowse link 18 11,826,705 11,858,801 RGD:8554872
G Fgd4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 11 88,699,222 88,796,677 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:7240710
RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872
atrial heart septal defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7240710
RGD:8554872
atrial heart septal defect 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:7240710
RGD:8554872
atrial heart septal defect 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tll1 tolloid-like 1 JBrowse link 16 27,399,467 27,597,240 RGD:7240710
RGD:8554872
atrial heart septal defect 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:7240710
RGD:8554872
atrial heart septal defect 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:7240710
RGD:8554872
atrial heart septal defect 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:7240710
RGD:8554872
autoimmune lymphoproliferative syndrome type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:7240710
RGD:8554872
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:7240710
RGD:8554872
autosomal dominant Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:6902925
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:7240710
RGD:8554872
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:7240710
RGD:8554872
autosomal dominant cutis laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:8554872
RGD:11554173
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:8554872
RGD:11554173
autosomal dominant cutis laxa 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:8554872
RGD:7240710
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:8554872
autosomal dominant cutis laxa 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:7240710
RGD:8554872
autosomal dominant cutis laxa 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:7240710
RGD:8554872
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dspp dentin sialophosphoprotein JBrowse link 14 6,926,972 6,933,079 RGD:7240710
RGD:8554872
RGD:12910984
Autosomal Dominant Deafness 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh14 myosin heavy chain 14 JBrowse link 1 100,608,975 100,671,086 RGD:8554872
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actrt3 actin-related protein T3 JBrowse link 2 116,416,561 116,418,521 RGD:8554872
G Inpp4a inositol polyphosphate-4-phosphatase type I A JBrowse link 9 43,889,887 44,006,593 RGD:8554872
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:8554872
RGD:11554173
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
RGD:11554173
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:8554872
RGD:11554173
autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:7240710
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:13592920
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:13592920
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
RGD:7240710
autosomal dominant dyskeratosis congenita 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:7240710
RGD:8554872
autosomal dominant dyskeratosis congenita 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:7240710
RGD:8554872
autosomal dominant dyskeratosis congenita 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acd ACD, shelterin complex subunit and telomerase recruitment factor JBrowse link 19 37,665,289 37,668,043 RGD:7240710
RGD:8554872
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:7240710
RGD:2306094
RGD:12791273
RGD:11062274
RGD:12791020
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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:8554872
RGD:7240710
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syne2 spectrin repeat containing nuclear envelope protein 2 JBrowse link 6 98,884,269 99,153,551 RGD:8554872
RGD:7240710
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:7240710
RGD:8554872
autosomal dominant familial periodic fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:7240710
RGD:8554872
autosomal dominant hypocalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amelx amelogenin, X-linked JBrowse link X 26,439,197 26,450,495 RGD:1599092
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483581
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:1598940
RGD:8554872
RGD:7205656
RGD:7205497
RGD:7204717
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:734871
G Gcm2 glial cells missing transcription factor 2 JBrowse link 17 21,490,402 21,499,516 RGD:8554872
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242904
RGD:8554872
autosomal dominant hypocalcemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:8554872
RGD:7240710
autosomal dominant hypocalcemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gna11 G protein subunit alpha 11 JBrowse link 7 11,033,400 11,047,284 RGD:7240710
RGD:8554872
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:8554872
RGD:11554173
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:1598933
RGD:8554872
RGD:10044239
RGD:7240710
autosomal dominant isolated ectopia lentis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7364809
RGD:8554872
RGD:7364885
RGD:7240710
RGD:7364889
RGD:7364813
RGD:7364811
autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:7240710
RGD:8554872
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnpo3 transportin 3 JBrowse link 4 56,820,023 56,897,310 RGD:7240710
RGD:8554872
autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like JBrowse link 14 11,199,114 11,204,670 RGD:7240710
RGD:8554872
autosomal dominant macrothrombocytopenia TUBB1-related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb1 tubulin, beta 1 class VI JBrowse link 3 172,550,252 172,558,089 RGD:7240710
RGD:8554872
autosomal dominant mental retardation 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mef2c myocyte enhancer factor 2C JBrowse link 2 11,658,534 11,822,788 RGD:7240710
RGD:8554872
autosomal dominant mental retardation 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cic capicua transcriptional repressor JBrowse link 1 82,135,440 82,163,007 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 JBrowse link 9 27,565,869 28,141,114 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stag1 stromal antigen 1 JBrowse link 8 108,958,099 109,342,738 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rac1 Rac family small GTPase 1 JBrowse link 12 13,090,316 13,111,841 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip12 thyroid hormone receptor interactor 12 JBrowse link 9 92,305,059 92,435,388 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit JBrowse link 2 140,471,437 140,534,259 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt5b lysine methyltransferase 5B JBrowse link 1 219,000,844 219,050,211 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ash1l ASH1 like histone lysine methyltransferase JBrowse link 2 188,252,592 188,389,251 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camk2a calcium/calmodulin-dependent protein kinase II alpha JBrowse link 18 56,193,978 56,295,869 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camk2b calcium/calmodulin-dependent protein kinase II beta JBrowse link 14 86,208,876 86,297,727 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 20 33,557,052 33,584,011 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cltc clathrin heavy chain JBrowse link 10 74,014,560 74,070,578 RGD:8554872
RGD:7240710
G Mmp20 matrix metallopeptidase 20 JBrowse link 8 5,823,147 5,875,555 RGD:8554872
Autosomal Dominant Mental Retardation 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tlk2 tousled-like kinase 2 JBrowse link 10 93,410,181 93,507,277 RGD:8554872
RGD:7240710
Autosomal Dominant Mental Retardation 58 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Set SET nuclear proto-oncogene JBrowse link 19 58,420,635 58,422,153 RGD:8554872
RGD:7240710
autosomal dominant nocturnal frontal lobe epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit JBrowse link 15 42,808,897 42,825,179 RGD:8554872
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:8554872
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 2 189,088,570 189,096,785 RGD:737782
RGD:8554872
G Crh corticotropin releasing hormone JBrowse link 2 104,459,999 104,461,863 RGD:8554872
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor JBrowse link 3 176,690,507 176,692,272 RGD:8554872
G Prima1 proline rich membrane anchor 1 JBrowse link 6 127,075,954 127,127,985 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
G Tbx19 T-box 19 JBrowse link 13 83,403,263 83,426,305 RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:7240710
RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 2 189,088,570 189,096,785 RGD:7240710
RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit JBrowse link 15 42,808,897 42,825,179 RGD:7240710
RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:7240710
RGD:8554872
G Spag1 sperm associated antigen 1 JBrowse link 7 74,994,379 75,054,294 RGD:8554872
autosomal dominant non-syndromic intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auts2 activator of transcription and developmental regulator AUTS2 JBrowse link 12 27,155,362 28,252,752 RGD:13592920
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Mbd5 methyl-CpG binding domain protein 5 JBrowse link 3 33,364,812 33,504,144 RGD:13592920
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 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 Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:13592920
G Zfp462 zinc finger protein 462 JBrowse link 5 71,679,841 71,824,077 RGD:8554872
autosomal dominant non-syndromic intellectual disability 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvr2a activin A receptor type 2A JBrowse link 3 32,947,901 33,034,598 RGD:8554872
G Arhgap15 Rho GTPase activating protein 15 JBrowse link 3 28,626,987 29,236,225 RGD:8554872
G Epc2 enhancer of polycomb homolog 2 JBrowse link 3 33,641,616 33,741,219 RGD:8554872
G Gtdc1 glycosyltransferase-like domain containing 1 JBrowse link 3 29,410,426 29,705,981 RGD:8554872
G Kif5c kinesin family member 5C JBrowse link 3 35,014,157 35,257,417 RGD:8554872
G Kynu kynureninase JBrowse link 3 28,416,926 28,566,939 RGD:8554872
G Mbd5 methyl-CpG binding domain protein 5 JBrowse link 3 33,364,812 33,504,144 RGD:7240710
RGD:8554872
RGD:11554204
G Orc4 origin recognition complex, subunit 4 JBrowse link 3 33,034,913 33,075,833 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:8554872
autosomal dominant non-syndromic intellectual disability 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 JBrowse link 7 119,228,112 119,353,332 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epb41l1 erythrocyte membrane protein band 4.1-like 1 JBrowse link 3 152,492,725 152,622,047 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creb3l4 cAMP responsive element binding protein 3-like 4 JBrowse link 2 189,596,657 189,602,243 RGD:8554872
G Crtc2 CREB regulated transcription coactivator 2 JBrowse link 2 189,615,928 189,625,646 RGD:8554872
G Dennd4b DENN domain containing 4B JBrowse link 2 189,626,922 189,642,732 RGD:8554872
G Gatad2b GATA zinc finger domain containing 2B JBrowse link 2 189,654,871 189,735,056 RGD:7240710
RGD:8554872
G Jtb jumping translocation breakpoint JBrowse link 2 189,591,707 189,595,926 RGD:8554872
G Nup210l nucleoporin 210-like JBrowse link 2 189,453,932 189,571,918 RGD:8554872
G Rab13 RAB13, member RAS oncogene family JBrowse link 2 189,581,209 189,586,358 RGD:8554872
G Rps27 ribosomal protein S27 JBrowse link 2 189,572,175 189,573,280 RGD:8554872
G Slc39a1 solute carrier family 39 member 1 JBrowse link 2 189,609,766 189,615,367 RGD:8554872
autosomal dominant non-syndromic intellectual disability 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camta1 calmodulin binding transcription activator 1 JBrowse link 5 168,138,207 169,017,295 RGD:8554872
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:7240710
autosomal dominant non-syndromic intellectual disability 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctcf CCCTC-binding factor JBrowse link 19 37,600,151 37,649,674 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setd5 SET domain containing 5 JBrowse link 4 145,017,549 145,095,247 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Deaf1 DEAF1 transcription factor JBrowse link 1 214,283,787 214,317,466 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auts2 activator of transcription and developmental regulator AUTS2 JBrowse link 12 27,155,362 28,252,752 RGD:8554872
RGD:7240710
G Kmt2d lysine methyltransferase 2D JBrowse link 7 140,507,137 140,542,479 RGD:8554872
autosomal dominant non-syndromic intellectual disability 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox11 SRY box 11 JBrowse link 6 46,629,967 46,631,988 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh15 cadherin 15 JBrowse link 19 55,669,661 55,689,986 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zmynd11 zinc finger, MYND-type containing 11 JBrowse link 17 63,825,616 63,914,740 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pura purine rich element binding protein A JBrowse link 18 29,104,712 29,114,918 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpp6 dipeptidyl peptidase like 6 JBrowse link 4 4,021,021 4,943,675 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3bp collagen type IV alpha 3 binding protein JBrowse link 2 27,365,145 27,469,797 RGD:7240710
RGD:8554872
G Polk DNA polymerase kappa JBrowse link 2 27,305,718 27,364,906 RGD:8554872
autosomal dominant non-syndromic intellectual disability 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mea1 male-enhanced antigen 1 JBrowse link 9 16,610,312 16,614,153 RGD:8554872
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta JBrowse link 9 16,580,995 16,610,425 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha JBrowse link 1 60,717,386 60,736,629 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myt1l myelin transcription factor 1-like JBrowse link 6 48,452,385 48,843,443 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kirrel3 kirre like nephrin family adhesion molecule 3 JBrowse link 8 35,692,525 36,254,755 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Champ1 chromosome alignment maintaining phosphoprotein 1 JBrowse link 16 80,839,373 80,850,340 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1 X-linked receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:7240710
autosomal dominant non-syndromic intellectual disability 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hivep2 human immunodeficiency virus type I enhancer binding protein 2 JBrowse link 1 8,129,354 8,333,890 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trio trio Rho guanine nucleotide exchange factor JBrowse link 2 80,471,398 80,769,313 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A JBrowse link 11 34,858,339 34,958,733 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crym crystallin, mu JBrowse link 1 189,944,895 189,960,069 RGD:8554872
G Pde1c phosphodiesterase 1C JBrowse link 4 86,359,762 86,925,044 RGD:8554872
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph1 diaphanous-related formin 1 JBrowse link 18 30,972,907 31,071,371 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 23,237,617 23,611,580 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tecta tectorin alpha JBrowse link 8 46,603,728 46,675,658 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pou4f3 POU class 4 homeobox 3 JBrowse link 18 36,713,869 36,716,461 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gcdh glutaryl-CoA dehydrogenase JBrowse link 19 26,000,497 26,006,970 RGD:8554872
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link 13 73,929,136 73,941,522 RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:8554872
G Strc stereocilin JBrowse link 3 113,324,403 113,343,513 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 20 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
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc17a8 solute carrier family 17 member 8 JBrowse link 7 30,215,231 30,274,993 RGD:7240710
RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:13592920
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rest RE1-silencing transcription factor JBrowse link 14 33,131,985 33,152,019 RGD:7240710
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl2 grainyhead-like transcription factor 2 JBrowse link 7 76,058,623 76,197,360 RGD:1599382
RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 5 139,625,783 139,677,300 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmc1 transmembrane channel-like 1 JBrowse link 1 238,336,919 238,525,792 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crym crystallin, mu JBrowse link 1 189,944,895 189,960,069 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P2rx2 purinergic receptor P2X 2 JBrowse link 12 52,397,666 52,401,005 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc50 coiled-coil domain containing 50 JBrowse link 11 76,742,179 76,804,695 RGD:7240710
RGD:9685138
RGD:8554872
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo1a myosin IA JBrowse link 7 71,000,299 71,019,386 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ceacam16 carcinoembryonic antigen-related cell adhesion molecule 16 JBrowse link 1 80,773,819 80,783,898 RGD:13592920
G Myh14 myosin heavy chain 14 JBrowse link 1 100,608,975 100,671,086 RGD:7240710
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ceacam16 carcinoembryonic antigen-related cell adhesion molecule 16 JBrowse link 1 80,773,819 80,783,898 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsdme gasdermin E JBrowse link 4 79,934,075 79,999,678 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir96 microRNA 96 JBrowse link 4 57,463,366 57,463,471 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tjp2 tight junction protein 2 JBrowse link 1 241,945,816 242,084,044 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pou4f3 POU class 4 homeobox 3 JBrowse link 18 36,713,869 36,716,461 RGD:7240710
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pappa1 pappalysin 1 JBrowse link 5 80,919,932 81,153,904 RGD:8554872
G Tnc tenascin C JBrowse link 5 79,789,686 79,874,555 RGD:7240710
RGD:8554872
G Tnfsf8 TNF superfamily member 8 JBrowse link 5 79,664,779 79,691,547 RGD:8554872
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diablo diablo, IAP-binding mitochondrial protein JBrowse link 12 38,490,230 38,503,344 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd164 CD164 molecule JBrowse link 20 46,250,418 46,261,994 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Osbpl2 oxysterol binding protein-like 2 JBrowse link 3 175,493,650 175,538,965 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Homer2 homer scaffold protein 2 JBrowse link 1 143,443,300 143,535,579 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kitlg KIT ligand JBrowse link 7 42,269,784 42,351,054 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm2 minichromosome maintenance complex component 2 JBrowse link 4 120,825,699 120,840,221 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmxl2 Dmx-like 2 JBrowse link 8 58,932,575 59,077,788 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc44a4 solute carrier family 44, member 4 JBrowse link 20 4,593,389 4,609,641 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptprq protein tyrosine phosphatase, receptor type, Q JBrowse link 7 49,763,657 50,034,932 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde1c phosphodiesterase 1C JBrowse link 4 86,359,762 86,925,044 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coch cochlin JBrowse link 6 72,359,702 72,373,710 RGD:7240710
RGD:8554872
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:7240710
RGD:8554872
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn7 chloride voltage-gated channel 7 JBrowse link 10 14,492,844 14,518,167 RGD:7240710
RGD:8554872
autosomal dominant Parkinson's disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:7240710
RGD:8554872
autosomal dominant Parkinson's disease 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 JBrowse link 9 101,388,148 101,388,819 RGD:7240710
RGD:8554872
autosomal dominant Parkinson's disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:7240710
autosomal dominant Parkinson's disease 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrk2 leucine-rich repeat kinase 2 JBrowse link 7 132,857,311 133,018,549 RGD:5508405
RGD:8554872
RGD:7240710
autosomal dominant polycystic kidney disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Angpt2 angiopoietin 2 JBrowse link 16 75,966,480 76,016,147 RGD:2314213
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 JBrowse link 5 62,642,974 62,684,387 RGD:11554173
G Bicc1 BicC family RNA binding protein 1 JBrowse link 20 18,780,605 18,940,429 RGD:13592920
G Brd4 bromodomain containing 4 JBrowse link 7 14,222,101 14,303,055 RGD:11554173
G C9 complement C9 JBrowse link 2 55,775,562 55,823,807 RGD:8661641
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:7204130
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:2289666
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:8661641
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:4144854
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 109,300,433 109,303,299 RGD:7242198
G Ganab glucosidase II alpha subunit JBrowse link 1 225,096,558 225,116,384 RGD:11554173
RGD:8554872
G Havcr1 hepatitis A virus cellular receptor 1 JBrowse link 10 31,813,819 31,860,934 RGD:7245969
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:6909172
G Itga8 integrin subunit alpha 8 JBrowse link 17 79,321,893 79,676,927 RGD:7257723
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:1641842
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207194
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:7207194
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:7245504
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:7207457
RGD:11554173
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:13592920
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:5131995
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:1601399
RGD:8554872
RGD:11554173
RGD:7175280
RGD:7175279
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link 14 6,602,004 6,645,257 RGD:7175273
RGD:8554872
RGD:11554173
RGD:7175279
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:11554173
G Rps6kb1 ribosomal protein S6 kinase B1 JBrowse link 10 73,824,200 73,865,503 RGD:1643017
G Serping1 serpin family G member 1 JBrowse link 3 72,161,230 72,171,109 RGD:8661641
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242933
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:5131995
G Stat6 signal transducer and activator of transcription 6 JBrowse link 7 70,946,228 70,963,542 RGD:7243978
autosomal dominant pseudohypoaldosteronism type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul3 cullin 3 JBrowse link 9 86,044,485 86,129,066 RGD:8554872
G Klhl3 kelch-like family member 3 JBrowse link 17 6,924,423 7,029,374 RGD:8554872
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 JBrowse link 19 34,408,275 34,761,003 RGD:1600930
RGD:8554872
RGD:7240710
G Stx16 syntaxin 16 JBrowse link 3 172,154,739 172,183,699 RGD:8554872
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 dominant sensory ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 RGD:7240710
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspa9 heat shock protein family A (Hsp70) member 9 JBrowse link 18 27,731,072 27,749,235 RGD:8554872
RGD:7240710
autosomal dominant type IV Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:7240710
Axenfeld-Rieger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dact1 dishevelled-binding antagonist of beta-catenin 1 JBrowse link 6 93,740,440 93,751,003 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8554872
RGD:12904045
RGD:12904044
RGD:12904042
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
RGD:12910560
RGD:12910558
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 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
Axenfeld-Rieger syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adarb1 adenosine deaminase, RNA-specific, B1 JBrowse link 20 11,972,352 12,101,022 RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13592920
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:8554872
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:8554872
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:8554872
G Dip2a disco-interacting protein 2 homolog A JBrowse link 20 13,044,056 13,127,971 RGD:8554872
G Fam207a family with sequence similarity 207, member A JBrowse link 20 11,863,145 11,896,833 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:7240710
RGD:8554872
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:8554872
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872
G LOC108348157 speriolin-like protein JBrowse link 20 13,164,610 13,173,791 RGD:8554872
G Lss lanosterol synthase JBrowse link 20 12,844,522 12,870,474 RGD:8554872
G Mcm3ap minichromosome maintenance complex component 3 associated protein JBrowse link 20 12,879,304 12,917,069 RGD:8554872
G Pcbp3 poly(rC) binding protein 3 JBrowse link 20 12,429,255 12,629,985 RGD:8554872
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:8554872
G Pofut2 protein O-fucosyltransferase 2 JBrowse link 20 12,117,811 12,128,747 RGD:8554872
G Prmt2 protein arginine methyltransferase 2 JBrowse link 20 13,154,513 13,212,613 RGD:8554872
G RGD1564149 similar to Protein C21orf58 JBrowse link 20 12,927,310 12,938,891 RGD:8554872
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872
G Ybey ybeY metalloendoribonuclease JBrowse link 20 12,917,111 12,926,587 RGD:8554872
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
Bart-Pumphrey syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
RGD:7364821
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
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
Birt-Hogg-Dube syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flcn folliculin JBrowse link 10 46,153,185 46,172,331 RGD:1598946
RGD:8554872
RGD:11554173
RGD:7240710
Blau syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8547518
RGD:8547515
RGD:8158051
RGD:8158040
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, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:1598958
RGD:11554173
RGD:8554872
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
blue color blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1sw opsin 1, short wave sensitive JBrowse link 4 56,653,840 56,656,980 RGD:7240710
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 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
branchiooculofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
RGD:7240710
branchiootic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:7240710
RGD:8554872
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:13592920
Branchiootic Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:7240710
RGD:8554872
branchiootorenal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:1598917
RGD:8554872
RGD:11554173
RGD:8554897
RGD:8554880
RGD:7240710
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:8554876
RGD:8554872
RGD:11554173
RGD:11064057
RGD:8554882
RGD:8554880
RGD:8554879
G Six5 SIX homeobox 5 JBrowse link 1 80,000,106 80,005,303 RGD:7240710
RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:11554173
Brooke-Spiegler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyld CYLD lysine 63 deubiquitinase JBrowse link 19 19,264,984 19,323,817 RGD:7240710
RGD:8554872
RGD:11554173
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:11554173
G Slc52a3 solute carrier family 52 member 3 JBrowse link 3 147,503,266 147,517,935 RGD:8554872
RGD:11554173
Brown-Vialetto-Van Laere Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Slc52a3 solute carrier family 52 member 3 JBrowse link 3 147,503,266 147,517,935 RGD:8554872
RGD:7240710
Brown-Vialetto-Van Laere Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:7240710
RGD:8554872
Brugada syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap9 A-kinase anchoring protein 9 JBrowse link 4 27,195,346 27,331,582 RGD:8554872
G Kcna5 potassium voltage-gated channel subfamily A member 5 JBrowse link 4 159,077,195 159,079,003 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Kcnj8 potassium voltage-gated channel subfamily J member 8 JBrowse link 4 176,783,287 176,789,143 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
RGD:7240710
Brugada syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn3b sodium voltage-gated channel beta subunit 3 JBrowse link 8 44,136,413 44,159,011 RGD:7240710
RGD:8554872
Brugada syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnd3 potassium voltage-gated channel subfamily D member 3 JBrowse link 2 207,923,775 208,140,727 RGD:7240710
RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Krt2 keratin 2 JBrowse link 7 143,412,858 143,420,463 RGD:7240710
RGD:8554872
CADASIL 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:7240710
RGD:8554872
CADASIL 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:8554872
RGD:7240710
campomelic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox9 SRY box 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 9 JBrowse link 10 101,288,528 101,294,030 RGD:8554872
Carney complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:13592920
RGD:8554872
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:7240710
RGD:8554872
RGD:11554173
Carney Complex Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:7240710
RGD:8554872
Carney Triad term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
Carney-Stratakis Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:7240710
RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:7240710
RGD:8554872
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:7240710
RGD:8554872
Carotid Body Tumor term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A3galt2 alpha 1,3-galactosyltransferase 2 JBrowse link 5 146,933,592 146,945,882 RGD:8554872
G Adprhl2 ADP-ribosylhydrolase like 2 JBrowse link 5 144,336,312 144,341,586 RGD:8554872
G Ago1 argonaute RISC component 1 JBrowse link 5 144,444,390 144,479,430 RGD:8554872
G Ago3 argonaute RISC catalytic component 3 JBrowse link 5 144,355,792 144,436,509 RGD:8554872
G Ago4 argonaute RISC component 4 JBrowse link 5 144,501,875 144,557,165 RGD:8554872
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:8554872
G Akirin1 akirin 1 JBrowse link 5 141,415,226 141,430,627 RGD:8554872
G Akr1a1 aldo-keto reductase family 1 member A1 JBrowse link 5 135,482,068 135,498,693 RGD:8554872
G Armh1 armadillo-like helical domain containing 1 JBrowse link 5 136,073,056 136,112,344 RGD:8554872
G Artn artemin JBrowse link 5 136,759,717 136,765,036 RGD:8554872
G Atp6v0b ATPase H+ transporting V0 subunit B JBrowse link 5 136,718,352 136,719,868 RGD:8554872
G Azin2 antizyme inhibitor 2 JBrowse link 5 147,120,128 147,148,576 RGD:8554872
G B4galt2 beta-1,4-galactosyltransferase 2 JBrowse link 5 136,707,510 136,717,345 RGD:8554872
G Best4 bestrophin 4 JBrowse link 5 136,013,978 136,017,742 RGD:8554872
G Bmp8a bone morphogenetic protein 8a JBrowse link 5 141,007,462 141,033,511 RGD:8554872
G Btbd19 BTB domain containing 19 JBrowse link 5 135,988,549 135,994,985 RGD:8554872
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 JBrowse link 5 140,559,195 140,585,494 RGD:8554872
G Ccdc17 coiled-coil domain containing 17 JBrowse link 5 135,440,276 135,445,794 RGD:8554872
G Ccdc24 coiled-coil domain containing 24 JBrowse link 5 136,691,655 136,707,197 RGD:8554872
G Ccdc30 coiled-coil domain containing 30 JBrowse link 5 138,364,211 138,462,922 RGD:8554872
G Cdc20 cell division cycle 20 JBrowse link 5 137,260,728 137,264,931 RGD:8554872
G Cdca8 cell division cycle associated 8 JBrowse link 5 142,911,310 142,933,536 RGD:8554872
G Cfap57 cilia and flagella associated protein 57 JBrowse link 5
5
137,383,065
137,652,118
137,458,594
137,670,067
RGD:8554872
G Cited4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 JBrowse link 5 139,597,731 139,598,622 RGD:8554872
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:8554872
G Clspn claspin JBrowse link 5 144,577,670 144,617,507 RGD:8554872
G Col8a2 collagen type VIII alpha 2 chain JBrowse link 5 144,308,527 144,335,142 RGD:8554872
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:8554872
G Csf3r colony stimulating factor 3 receptor JBrowse link 5 144,031,353 144,051,966 RGD:8554872
G Csmd2 CUB and Sushi multiple domains 2 JBrowse link 5 146,091,167 146,743,436 RGD:8554872
G Ctps1 CTP synthase 1 JBrowse link 5 139,475,934 139,505,065 RGD:8554872
G Dlgap3 DLG associated protein 3 JBrowse link 5 145,234,757 145,304,536 RGD:8554872
G Dmap1 DNA methyltransferase 1-associated protein 1 JBrowse link 5 136,533,791 136,541,795 RGD:8554872
G Dnali1 dynein, axonemal, light intermediate chain 1 JBrowse link 5 143,053,365 143,062,203 RGD:8554872
G Dph2 diphthamide biosynthesis 2 JBrowse link 5 136,723,398 136,726,358 RGD:8554872
G Ebna1bp2 EBNA1 binding protein 2 JBrowse link 5 137,458,692 137,463,255 RGD:8554872
G Edn2 endothelin 2 JBrowse link 5 139,098,472 139,106,396 RGD:8554872
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 5 135,882,946 135,949,276 RGD:8554872
G Elovl1 ELOVL fatty acid elongase 1 JBrowse link 5 137,255,868 137,260,486 RGD:8554872
G Epha10 EPH receptor A10 JBrowse link 5 142,875,171 142,910,537 RGD:8554872
G Eri3 ERI1 exoribonuclease family member 3 JBrowse link 5 136,406,009 136,533,408 RGD:8554872
G Ermap erythroblast membrane associated protein (Scianna blood group) JBrowse link 5 138,227,168 138,240,509 RGD:8554872
G Eva1b eva-1 homolog B JBrowse link 5 144,160,026 144,161,421 RGD:8554872
G Exo5 exonuclease 5 JBrowse link 5 139,849,930 139,853,247 RGD:8554872
G Fam183a family with sequence similarity 183 member A JBrowse link 10 44,736,547 44,746,907 RGD:8554872
G Fhl3 four and a half LIM domains 3 JBrowse link 5 142,688,962 142,696,330 RGD:8554872
G Fndc5 fibronectin type III domain containing 5 JBrowse link 5 147,323,240 147,330,266 RGD:8554872
G Foxj3 forkhead box J3 JBrowse link 5 138,587,968 138,676,948 RGD:8554872
G Foxo6 forkhead box O6 JBrowse link 5 139,208,153 139,227,288 RGD:8554872
G Gja4 gap junction protein, alpha 4 JBrowse link 5 145,374,688 145,377,221 RGD:8554872
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:8554872
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:8554872
G Gjb5 gap junction protein, beta 5 JBrowse link 5 145,422,034 145,440,558 RGD:8554872
G Gnl2 G protein nucleolar 2 JBrowse link 5 143,027,970 143,053,418 RGD:8554872
G Gpbp1l1 GC-rich promoter binding protein 1-like 1 JBrowse link 5 135,398,926 135,439,772 RGD:8554872
G Grik3 glutamate ionotropic receptor kainate type subunit 3 JBrowse link 5 143,500,441 143,715,546 RGD:8554872
G Guca2a guanylate cyclase activator 2A JBrowse link 5 138,685,634 138,687,476 RGD:8554872
G Guca2b guanylate cyclase activator 2B JBrowse link 5 138,695,591 138,697,641 RGD:8554872
G Hectd3 HECT domain E3 ubiquitin protein ligase 3 JBrowse link 5 135,860,578 135,870,535 RGD:8554872
G Heyl hes-related family bHLH transcription factor with YRPW motif-like JBrowse link 5 140,923,914 140,940,905 RGD:8554872
G Hivep3 human immunodeficiency virus type I enhancer binding protein 3 JBrowse link 5 138,774,501 139,077,403 RGD:8554872
G Hmgb4 high-mobility group box 4 JBrowse link 5 146,445,545 146,446,227 RGD:8554872
G Hpca hippocalcin JBrowse link 5 147,295,124 147,305,757 RGD:8554872
G Hpcal4 hippocalcin-like 4 JBrowse link 5 140,870,127 140,882,242 RGD:8554872
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like JBrowse link 5 135,675,826 135,677,432 RGD:8554872
G Hyi hydroxypyruvate isomerase JBrowse link 5 137,189,440 137,192,125 RGD:8554872
G Inpp5b inositol polyphosphate-5-phosphatase B JBrowse link 5 142,731,767 142,796,305 RGD:8554872
G Ipo13 importin 13 JBrowse link 5 136,728,744 136,749,187 RGD:8554872
G Ipp intracisternal A particle-promoted polypeptide JBrowse link 5 135,351,767 135,390,363 RGD:8554872
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 5 139,625,783 139,677,300 RGD:8554872
G Kdm4a lysine demethylase 4A JBrowse link 5 136,967,650 137,014,402 RGD:8554872
G Kif2c kinesin family member 2C JBrowse link 5 136,027,923 136,053,268 RGD:8554872
G Klf17 Kruppel-like factor 17 JBrowse link 5 136,602,472 136,610,058 RGD:8554872
G LOC100294508 dyslexia susceptibility 2-like JBrowse link 5 144,779,306 144,872,271 RGD:8554872
G LOC100361083 hypothetical LOC100361083 JBrowse link 5 141,096,801 141,100,963 RGD:8554872
G LOC100912566 UPF0500 protein C1orf216 homolog JBrowse link 5 146,320,693 146,342,159 RGD:8554872
G LOC682102 hypothetical protein LOC682102 JBrowse link 5 146,023,695 146,069,623 RGD:8554872
G Lsm10 LSM10, U7 small nuclear RNA associated JBrowse link 5 144,106,339 144,108,703 RGD:8554872
G Macf1 microtubule-actin crosslinking factor 1 JBrowse link 5 141,039,455 141,363,524 RGD:8554872
G Maneal mannosidase, endo-alpha-like JBrowse link 5 142,850,139 142,857,292 RGD:8554872
G Map7d1 MAP7 domain containing 1 JBrowse link 5 144,250,416 144,274,981 RGD:8554872
G Mast2 microtubule associated serine/threonine kinase 2 JBrowse link 5 135,149,336 135,285,337 RGD:8554872
G Meaf6 MYST/Esa1-associated factor 6 JBrowse link 5 143,081,298 143,103,225 RGD:8554872
G Mfsd2a major facilitator superfamily domain containing 2A JBrowse link 5 140,642,865 140,657,759 RGD:8554872
G Mir30c1 microRNA 30c-1 JBrowse link 5 139,699,877 139,699,965 RGD:8554872
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:8554872
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:8554872
G Mrps15 mitochondrial ribosomal protein S15 JBrowse link 5 144,054,452 144,065,045 RGD:8554872
G Mtf1 metal-regulatory transcription factor 1 JBrowse link 5 142,797,340 142,843,896 RGD:8554872
G Mutyh mutY DNA glycosylase JBrowse link 5 135,663,328 135,675,348 RGD:8554872
G Mycbp Myc binding protein JBrowse link 5 141,560,192 141,567,399 RGD:8554872
G Mycl MYCL proto-oncogene, bHLH transcription factor JBrowse link 5 140,691,947 140,698,837 RGD:8554872
G Nasp nuclear autoantigenic sperm protein JBrowse link 5 135,446,485 135,472,113 RGD:8554872
G Ncdn neurochondrin JBrowse link 5 144,769,452 144,779,271 RGD:8554872
G Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 JBrowse link 5 141,390,577 141,405,507 RGD:8554872
G Nfyc nuclear transcription factor Y subunit gamma JBrowse link 5 139,687,442 139,760,154 RGD:8554872
G Nt5c1a 5'-nucleotidase, cytosolic IA JBrowse link 5 140,888,862 140,909,322 RGD:8554872
G Oscp1 organic solute carrier partner 1 JBrowse link 5 144,067,391 144,099,693 RGD:8554872
G Oxct2b 3-oxoacid CoA transferase 2B JBrowse link 5 140,813,957 140,815,711 RGD:8554872
G P3h1 prolyl 3-hydroxylase 1 JBrowse link 5 138,279,597 138,294,280 RGD:8554872
G Pabpc4 poly(A) binding protein, cytoplasmic 4 JBrowse link 5 140,978,893 140,994,732 RGD:8554872
G Phc2 polyhomeotic homolog 2 JBrowse link 5 146,832,552 146,931,444 RGD:8554872
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 JBrowse link 5 135,069,972 135,145,633 RGD:8554872
G Plk3 polo-like kinase 3 JBrowse link 5 135,997,725 136,002,900 RGD:8554872
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Pou3f1 POU class 3 homeobox 1 JBrowse link 5 142,643,599 142,646,580 RGD:8554872
G Ppcs phosphopantothenoylcysteine synthetase JBrowse link 5 138,466,298 138,470,108 RGD:8554872
G Ppie peptidylprolyl isomerase E JBrowse link 5 140,822,141 140,835,244 RGD:8554872
G Ppih peptidylprolyl isomerase H JBrowse link 5 138,343,934 138,361,743 RGD:8554872
G Ppt1 palmitoyl-protein thioesterase 1 JBrowse link 5 140,538,260 140,558,163 RGD:8554872
G Prdx1 peroxiredoxin 1 JBrowse link 5 135,536,413 135,551,986 RGD:8554872
G Psmb2 proteasome subunit beta 2 JBrowse link 5 144,702,004 144,734,220 RGD:8554872
G Ptch2 patched 2 JBrowse link 5 135,962,252 135,983,816 RGD:8554872
G Ptprf protein tyrosine phosphatase, receptor type, F JBrowse link 5 137,036,936 137,112,930 RGD:8554872
G RGD1305347 similar to RIKEN cDNA 2610528J11 JBrowse link 5 137,356,777 137,360,636 RGD:8554872
G RGD1559909 RGD1559909 JBrowse link 5 142,844,079 142,845,116 RGD:8554872
G RGD1560436 similar to hypothetical protein FLJ20508 JBrowse link 5 142,933,619 142,940,807 RGD:8554872
G RGD1564804 similar to chromosome 1 open reading frame 50 JBrowse link 5 138,274,907 138,279,285 RGD:8554872
G Rhbdl2 rhomboid like 2 JBrowse link 5 141,462,579 141,511,893 RGD:8554872
G Rimkla ribosomal modification protein rimK-like family member A JBrowse link 5 138,518,559 138,545,577 RGD:8554872
G Rims3 regulating synaptic membrane exocytosis 3 JBrowse link 5 139,790,395 139,819,014 RGD:8554872
G Rlf rearranged L-myc fusion JBrowse link 5 140,107,144 140,162,698 RGD:8554872
G Rnf19b ring finger protein 19B JBrowse link 5 147,246,032 147,270,892 RGD:8554872
G Rnf220 ring finger protein 220 JBrowse link 5 136,129,457 136,351,752 RGD:8554872
G Rps8 ribosomal protein S8 JBrowse link 5 136,020,941 136,023,511 RGD:8554872
G Rragc Ras-related GTP binding C JBrowse link 5 141,572,536 141,590,784 RGD:8554872
G Rspo1 R-spondin 1 JBrowse link 5 142,986,526 143,007,847 RGD:8554872
G S100pbp S100P binding protein JBrowse link 5 147,333,890 147,375,151 RGD:8554872
G Scmh1 Scm polycomb group protein homolog 1 JBrowse link 5 139,379,256 139,466,805 RGD:8554872
G Sf3a3 splicing factor 3a, subunit 3 JBrowse link 5 142,702,721 142,722,350 RGD:8554872
G Sfpq splicing factor proline and glutamine rich JBrowse link 5 145,079,803 145,088,517 RGD:8554872
G Sh3d21 SH3 domain containing 21 JBrowse link 5 144,161,881 144,178,161 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
G Slfnl1 schlafen-like 1 JBrowse link 5 139,467,933 139,473,599 RGD:8554872
G Smap2 small ArfGAP2 JBrowse link 5 139,885,321 139,931,366 RGD:8554872
G Smim12 small integral membrane protein 12 JBrowse link 5 145,311,317 145,315,185 RGD:8554872
G Snip1 Smad nuclear interacting protein 1 JBrowse link 15 19,275,273 19,282,753 RGD:8554872
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:8554872
G Stk40 serine/threonine kinase 40 JBrowse link 5 144,112,612 144,150,653 RGD:8554872
G Svbp small vasohibin binding protein JBrowse link 5 138,245,639 138,251,353 RGD:8554872
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 RGD:8554872
G Tctex1d4 Tctex1 domain containing 4 JBrowse link 5 135,995,128 135,997,807 RGD:8554872
G Tekt2 tektin 2 JBrowse link 5 144,341,955 144,345,500 RGD:8554872
G Tesk2 testis associated actin remodelling kinase 2 JBrowse link 5 135,574,172 135,659,842 RGD:8554872
G Tfap2e transcription factor AP-2 epsilon JBrowse link 5 144,740,950 144,761,787 RGD:8554872
G Thrap3 thyroid hormone receptor associated protein 3 JBrowse link 5 144,178,248 144,221,318 RGD:8554872
G Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 JBrowse link 5 137,294,544 137,321,116 RGD:8554872
G Tmco2 transmembrane and coiled-coil domains 2 JBrowse link 5 140,019,871 140,024,458 RGD:8554872
G Tmem125 transmembrane protein 125 JBrowse link 5 137,371,825 137,373,229 RGD:8554872
G Tmem35b transmembrane protein 35B JBrowse link 5 145,188,323 145,191,953 RGD:8554872
G Tmem53 transmembrane protein 53 JBrowse link 5 136,112,417 136,127,976 RGD:8554872
G Tmem54 transmembrane protein 54 JBrowse link 5 147,288,700 147,295,191 RGD:8554872
G Tmem69 transmembrane protein 69 JBrowse link 5 135,394,013 135,397,591 RGD:8554872
G Toe1 target of EGR1, exonuclease JBrowse link 5 135,659,733 135,663,299 RGD:8554872
G Trappc3 trafficking protein particle complex 3 JBrowse link 5 144,281,720 144,295,306 RGD:8554872
G Trim62 tripartite motif-containing 62 JBrowse link 5 147,068,725 147,099,024 RGD:8554872
G Trit1 tRNA isopentenyltransferase 1 JBrowse link 5 140,711,943 140,756,893 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:8554872
G Utp11 UTP11, small subunit processome component JBrowse link 5 142,666,288 142,681,173 RGD:8554872
G Yars tyrosyl-tRNA synthetase JBrowse link 5 147,375,350 147,403,578 RGD:7240710
RGD:8554872
G Ybx1 Y box binding protein 1 JBrowse link 5 138,319,754 138,336,721 RGD:8554872
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing JBrowse link 5 142,845,265 142,850,110 RGD:8554872
G Zc3h12a zinc finger CCCH type containing 12A JBrowse link 5 143,111,342 143,120,131 RGD:8554872
G Zfp362 zinc finger protein 362 JBrowse link 5 146,951,195 146,985,450 RGD:8554872
G Zfp69 zinc finger protein 69 JBrowse link 5 139,856,457 139,871,896 RGD:8554872
G Zfp691 zinc finger protein 691 JBrowse link 5 138,217,841 138,222,534 RGD:8554872
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:8554872
G Zmym1 zinc finger MYM-type containing 1 JBrowse link 5 145,106,518 145,123,869 RGD:8554872
G Zmym4 zinc finger MYM-type containing 4 JBrowse link 5 144,878,212 144,996,431 RGD:8554872
G Zmym6 zinc finger MYM-type containing 6 JBrowse link 5 145,138,667 145,186,285 RGD:8554872
G Zmynd12 zinc finger, MYND-type containing 12 JBrowse link 5 138,470,165 138,505,928 RGD:8554872
G Zscan20 zinc finger and SCAN domain containing 20 JBrowse link 5 146,760,822 146,788,945 RGD:8554872
G Zswim5 zinc finger, SWIM-type containing 5 JBrowse link 5 135,735,825 135,854,525 RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inf2 inverted formin, FH2 and WH2 domain containing JBrowse link 6 137,162,593 137,180,198 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease dominant intermediate F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnb4 G protein subunit beta 4 JBrowse link 2 118,978,965 119,007,877 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
childhood hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:7240710
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
Clouston syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:13592920
RGD:8554872
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 2