Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive disease
go back to main search page
Accession:DOID:0050737 term browser browse the term
Definition:An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. (DO)
Synonyms:primary_id: RDO:9002040
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
autosomal recessive disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like JBrowse link 1 80,271,288 80,290,946 RGD:13592920
3-M syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc8 coiled-coil domain containing 8 JBrowse link 1 78,933,372 78,936,700 RGD:13592920
G Cul7 cullin 7 JBrowse link 9 16,629,491 16,643,527 RGD:8554872
RGD:11554173
G Obsl1 obscurin like cytoskeletal adaptor 1 JBrowse link 9 82,673,871 82,699,577 RGD:8554872
RGD:13592920
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:8554872
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:8554872
3-methylglutaconic aciduria type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auh AU RNA binding methylglutaconyl-CoA hydratase JBrowse link 17 12,310,178 12,405,224 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 2 120,503,093 120,531,782 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra2 HtrA serine peptidase 2 JBrowse link 4 113,883,671 113,886,833 RGD:8554872
RGD:7240710
G Loxl3 lysyl oxidase-like 3 JBrowse link 4 113,866,782 113,883,713 RGD:8554872
3-methylglutaconic aciduria type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm50 translocase of inner mitochondrial membrane 50 JBrowse link 1 85,470,810 85,480,813 RGD:8554872
RGD:7240710
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpb ClpB homolog, mitochondrial AAA ATPase chaperonin JBrowse link 1 166,739,372 166,866,095 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serac1 serine active site containing 1 JBrowse link 1 46,934,499 46,978,264 RGD:7240710
RGD:8554872
3MC syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8554872
G Ahsg alpha-2-HS-glycoprotein JBrowse link 11 81,711,269 81,717,594 RGD:8554872
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:8554872
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 JBrowse link 11 81,741,342 81,757,806 RGD:8554872
G Eif4a2 eukaryotic translation initiation factor 4A2 JBrowse link 11 81,373,047 81,379,680 RGD:8554872
G Fetub fetuin B JBrowse link 11 81,648,890 81,660,472 RGD:8554872
G Hrg histidine-rich glycoprotein JBrowse link 11 81,621,274 81,639,938 RGD:8554872
G Kng2 kininogen 2 JBrowse link 11 81,509,185 81,516,759 RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:7240710
RGD:8554872
RGD:11554173
G Rfc4 replication factor C subunit 4 JBrowse link 11 81,358,592 81,373,044 RGD:8554872
G Rpl39l ribosomal protein L39-like JBrowse link 10 5,529,580 5,533,695 RGD:8554872
G Rtp1 receptor (chemosensory) transporter protein 1 JBrowse link 11 80,823,989 80,826,505 RGD:8554872
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 JBrowse link 11 80,927,601 80,981,424 RGD:8554872
G Tbccd1 TBCC domain containing 1 JBrowse link 11 81,757,963 81,794,367 RGD:8554872
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:7240710
RGD:8554872
RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
3MC syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec10 collectin subfamily member 10 JBrowse link 7 93,975,451 94,035,999 RGD:8554872
RGD:7240710
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
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
abetalipoproteinemia 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:8554872
G Mttp microsomal triglyceride transfer protein JBrowse link 2 243,366,181 243,407,608 RGD:1581045
RGD:8554872
RGD:7240710
RGD:1581043
RGD:1581044
aceruloplasminemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:7240710
RGD:8554872
RGD:11554173
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:8554872
G Slc40a1 solute carrier family 40 member 1 JBrowse link 9 52,819,451 52,830,461 RGD:11554173
acheiropody term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
achondrogenesis type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip11 thyroid hormone receptor interactor 11 JBrowse link 6 125,741,520 125,812,926 RGD:7240710
RGD:8554872
achondrogenesis type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:7240710
RGD:8554872
RGD:11068488
achromatopsia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:7240710
RGD:8554872
achromatopsia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:7240710
RGD:8554872
achromatopsia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:7240710
RGD:8554872
acrocapitofemoral dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:1600033
RGD:8554872
RGD:7240710
acromesomelic dysplasia, Grebe type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:12487346
RGD:12437083
RGD:12437075
RGD:8554872
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:11554173
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:7240710
RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 RGD:8554872
acute chest syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450838
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450838
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:10449047
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:10755560
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11533931
RGD:11533934
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11075233
RGD:11075235
adult spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smn1 survival of motor neuron 1, telomeric JBrowse link 2 30,360,101 30,371,147 RGD:7240710
RGD:8554872
agammaglobulinemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Blnk B-cell linker JBrowse link 1 260,187,023 260,254,490 RGD:7240710
RGD:8554872
G Zfp518a zinc finger protein 518A JBrowse link 1 260,152,881 260,178,360 RGD:8554872
AGAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Duox1 dual oxidase 1 JBrowse link 3 114,251,794 114,286,827 RGD:8554872
G Duox2 dual oxidase 2 JBrowse link 3 114,218,187 114,237,808 RGD:8554872
G Duoxa1 dual oxidase maturation factor 1 JBrowse link 3 114,241,057 114,251,720 RGD:8554872
G Duoxa2 dual oxidase maturation factor 2 JBrowse link 3 114,236,718 114,240,086 RGD:8554872
G Gatm glycine amidinotransferase JBrowse link 3 114,711,570 114,728,155 RGD:7240710
RGD:8554872
G Shf Src homology 2 domain containing F JBrowse link 3 114,288,021 114,307,334 RGD:8554872
G Slc28a2 solute carrier family 28 member 2 JBrowse link 3 114,355,003 114,647,382 RGD:8554872
G Sord sorbitol dehydrogenase JBrowse link 3 114,176,127 114,207,368 RGD:8554872
G Terb2 telomere repeat binding bouquet formation protein 2 JBrowse link 3 114,129,387 114,147,943 RGD:8554872
agenesis of the corpus callosum with peripheral neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emc4 ER membrane protein complex subunit 4 JBrowse link 3 103,852,139 103,857,172 RGD:8554872
G Nop10 NOP10 ribonucleoprotein JBrowse link 3 103,747,654 103,748,739 RGD:8554872
G Slc12a6 solute carrier family 12, member 6 JBrowse link 3 103,752,213 103,852,686 RGD:1580594
RGD:8554872
RGD:7240710
alopecia universalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hr HR, lysine demethylase and nuclear receptor corepressor JBrowse link 15 52,241,801 52,261,276 RGD:7240710
RGD:8554872
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:7829773
alpha thalassemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11352811
G Hba-a1 hemoglobin alpha, adult chain 1 JBrowse link 10 15,602,794 15,603,649 RGD:10449442
RGD:11353869
RGD:10755575
RGD:10755570
RGD:10755568
RGD:10755567
G Hba-a2 hemoglobin alpha, adult chain 2 JBrowse link 10 15,589,364 15,590,207 RGD:1599361
RGD:8554872
RGD:11554173
RGD:7240710
RGD:10449442
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:11353869
RGD:8554872
RGD:11554173
G Hbq1b hemoglobin subunit theta 1B JBrowse link 10 15,599,821 15,602,680 RGD:8554872
G Hbz hemoglobin subunit zeta JBrowse link 10 15,609,348 15,610,826 RGD:8554872
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:11041792
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:8554872
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:7240710
RGD:8554872
RGD:9586030
RGD:9586029
RGD:9586027
alpha-2-plasmin inhibitor deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinf2 serpin family F member 2 JBrowse link 10 62,264,247 62,272,353 RGD:7240710
RGD:8554872
Alpha-Thalassemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hba-a2 hemoglobin alpha, adult chain 2 JBrowse link 10 15,589,364 15,590,207 RGD:8554872
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:8554872
Alpha-Thalassemia Myelodysplasia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:7240710
RGD:8554872
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hba-a2 hemoglobin alpha, adult chain 2 JBrowse link 10 15,589,364 15,590,207 RGD:8554872
Alstrom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alms1 ALMS1, centrosome and basal body associated protein JBrowse link 4 117,371,544 117,472,310 RGD:1601169
RGD:8554872
RGD:11554173
RGD:8696018
RGD:8696016
RGD:8696015
RGD:8696013
RGD:7240710
amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp20 matrix metallopeptidase 20 JBrowse link 8 5,823,147 5,875,555 RGD:7240710
RGD:8554872
amelogenesis imperfecta hypomaturation type 2A3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr72 WD repeat domain 72 JBrowse link 8 80,965,734 81,125,710 RGD:7240710
RGD:8554872
amelogenesis imperfecta hypomaturation type 2A4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Odaph odontogenesis associated phosphoprotein JBrowse link 14 17,575,295 17,583,214 RGD:7240710
RGD:8554872
amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc24a4 solute carrier family 24 member 4 JBrowse link 6 126,015,799 126,158,727 RGD:7240710
RGD:8554872
amelogenesis imperfecta type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enam enamelin JBrowse link 14 21,194,635 21,219,529 RGD:7240710
RGD:8554872
G Mmp20 matrix metallopeptidase 20 JBrowse link 8 5,823,147 5,875,555 RGD:8554872
G Wdr72 WD repeat domain 72 JBrowse link 8 80,965,734 81,125,710 RGD:8554872
amelogenesis imperfecta type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ambn ameloblastin JBrowse link 14 21,239,887 21,252,534 RGD:7240710
RGD:8554872
amelogenesis imperfecta type 1G 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:7240710
RGD:8554872
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:8554872
amelogenesis imperfecta type 1H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itgb6 integrin subunit beta 6 JBrowse link 3 46,652,624 46,775,362 RGD:7240710
RGD:8554872
amelogenesis imperfecta type 2A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klk4 kallikrein-related peptidase 4 JBrowse link 1 99,828,944 99,834,642 RGD:8554872
RGD:7240710
Amelogenesis Imperfecta Type 3C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Relt RELT, TNF receptor JBrowse link 1 165,884,407 165,902,022 RGD:7240710
RGD:8554872
Antley-Bixler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
RGD:8554872
RGD:12801485
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
RGD:11554173
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
G Tmem120a transmembrane protein 120A JBrowse link 12 23,989,596 23,998,257 RGD:8554872
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:11554173
ARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:11554173
RGD:8554872
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:8554872
RGD:11554173
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
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:8554872
RGD:7240710
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:7240710
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:8554872
RGD:7240710
asphyxiating thoracic dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G C2cd3 C2 domain containing 3 centriole elongation regulator JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Cep120 centrosomal protein 120 JBrowse link 18 48,658,495 48,720,570 RGD:11554173
G Cilk1 ciliogenesis associated kinase 1 JBrowse link 8 85,413,998 85,473,374 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:11554173
RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:11554173
RGD:8554872
G Evc EvC ciliary complex subunit 1 JBrowse link 14 78,213,601 78,253,266 RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 JBrowse link 13 109,624,167 109,629,609 RGD:8554872
G Fuz fuzzy planar cell polarity protein JBrowse link 1 100,891,832 100,896,811 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:11554173
RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:11554173
RGD:8554872
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
G Ift52 intraflagellar transport 52 JBrowse link 3 159,388,868 159,413,358 RGD:11554173
RGD:8554872
G Ift74 intraflagellar transport 74 JBrowse link 5 113,579,065 113,682,485 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 RGD:8554872
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:8554872
G Intu inturned planar cell polarity protein JBrowse link 2 127,589,325 127,611,705 RGD:8554872
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:8554872
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:11554173
RGD:8554872
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
RGD:11554173
RGD:11069733
RGD:11072153
G RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
G Sltm SAFB-like, transcription modulator JBrowse link 8 76,977,698 77,022,847 RGD:8554872
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` JBrowse link 4 95,884,020 95,945,248 RGD:13592920
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:11554173
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:11554173
RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
RGD:11554173
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:11554173
RGD:8554872
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
RGD:7240710
G Fam98c family with sequence similarity 98, member C JBrowse link 1 88,095,240 88,098,828 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:8554872
G Tmem256 transmembrane protein 256 JBrowse link 10 56,446,022 56,447,138 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:8554872
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:8554872
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:7240710
RGD:8554872
RGD:12879399
RGD:11554173
RGD:10053611
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo RGD:12879399
G Bak1 BCL2-antagonist/killer 1 JBrowse link 20 5,609,620 5,618,899 RGD:14394817
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:14394817
G Bik BCL2-interacting killer JBrowse link 7 124,390,924 124,410,449 RGD:14394817
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:9681455
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8693328
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8693328
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11529801
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mre11 MRE11 homolog, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8554872
RGD:11554173
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:11554173
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:7240710
RGD:8554872
RGD:10054301
RGD:10054300
RGD:1599207
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8554872
ataxia with oculomotor apraxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:7240710
RGD:8554872
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 JBrowse link 10 55,013,686 55,078,986 RGD:7240710
RGD:8554872
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mre11 MRE11 homolog, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:7240710
RGD:8554872
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa1 homeobox A1 JBrowse link 4 82,124,358 82,127,182 RGD:8554872
RGD:7240710
RGD:11553818
RGD:11554173
G Hoxa2 homeobox A2 JBrowse link 4 82,130,441 82,134,846 RGD:8554872
atransferrinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11041615
G Tf transferrin JBrowse link 8 111,694,570 111,721,275 RGD:7240710
RGD:8554872
RGD:11554173
atrichia with papular lesions term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hr HR, lysine demethylase and nuclear receptor corepressor JBrowse link 15 52,241,801 52,261,276 RGD:7240710
RGD:8554872
G Odc1 ornithine decarboxylase 1 JBrowse link 6 42,852,529 42,859,142 RGD:13592920
autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casp8 caspase 8 JBrowse link 9 65,614,142 65,662,624 RGD:8554872
RGD:7240710
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkcd protein kinase C, delta JBrowse link 16 6,655,131 6,675,746 RGD:7240710
RGD:8554872
autosomal recessive Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr1 C-C motif chemokine receptor 1 JBrowse link 8 132,996,646 133,002,201 RGD:5688157
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:7240710
RGD:8554872
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:13592920
autosomal recessive centronuclear myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bin1 bridging integrator 1 JBrowse link 18 25,163,575 25,222,139 RGD:8554872
RGD:11554173
G Speg striated muscle enriched protein kinase JBrowse link 9 82,571,333 82,628,684 RGD:11554173
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
autosomal recessive cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:8554872
G Tdp1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 6 123,895,860 123,963,688 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
autosomal recessive chronic granulomatous disease cytochrome b-negative term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyba cytochrome b-245 alpha chain JBrowse link 19 55,249,634 55,257,824 RGD:7240710
RGD:8554872
G Mvd mevalonate diphosphate decarboxylase JBrowse link 19 55,258,910 55,268,933 RGD:8554872
autosomal recessive chronic granulomatous disease cytochrome b-positive type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:7240710
RGD:8554872
autosomal recessive chronic granulomatous disease cytochrome b-positive type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncf2 neutrophil cytosolic factor 2 JBrowse link 13 70,226,441 70,259,019 RGD:7240710
RGD:8554872
autosomal recessive chronic granulomatous disease cytochrome b-positive type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:8554872
G Ncf4 neutrophil cytosolic factor 4 JBrowse link 7 119,481,711 119,499,426 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:8554872
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:8554872
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:8554872
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:2316868
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601069
G Nipal4 NIPA-like domain containing 4 JBrowse link 10 31,241,394 31,258,105 RGD:8554872
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:2316868
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 20 6,101,061 6,143,762 RGD:8554872
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 JBrowse link 7 71,152,366 71,169,510 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 RGD:8554872
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:1598548
RGD:11554173
G Abhd5 abhydrolase domain containing 5 JBrowse link 8 130,973,222 131,001,448 RGD:1598668
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:11554173
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:1599073
RGD:8554872
RGD:11554173
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 RGD:1599417
RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 20 6,101,061 6,143,762 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St14 suppression of tumorigenicity 14 JBrowse link 8 32,240,113 32,280,813 RGD:8554872
RGD:11554173
RGD:7240710
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casp14 caspase 14 JBrowse link 7 13,938,376 13,944,286 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 JBrowse link 7 71,152,366 71,169,510 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:7240710
RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:11554173
RGD:8554872
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:7240710
RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:7240710
RGD:8554872
G Cst6 cystatin E/M JBrowse link 1 220,727,292 220,729,000 RGD:13592920
G Piga phosphatidylinositol glycan anchor biosynthesis, class A JBrowse link X 31,786,823 31,799,751 RGD:13592920
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:13592920
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nipal4 NIPA-like domain containing 4 JBrowse link 10 31,241,394 31,258,105 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipn lipase, family member N JBrowse link 1 252,375,941 252,394,226 RGD:7240710
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cers3 ceramide synthase 3 JBrowse link 1 127,706,618 127,781,041 RGD:7240710
RGD:8554872
Autosomal Recessive 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:8554872
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 1 220,853,695 220,861,420 RGD:8554872
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:11554173
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:8554872
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:8554872
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:8554872
autosomal recessive cutis laxa type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 1 220,853,695 220,861,420 RGD:8554872
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:7240710
RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:8554872
autosomal recessive cutis laxa type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
G Banf1 barrier to autointegration factor 1 JBrowse link 1 220,744,195 220,746,224 RGD:8554872
G Bles03 basophilic leukemia expressed protein BLES03 JBrowse link 1 220,806,563 220,808,817 RGD:8554872
G Brms1 BRMS1, transcriptional repressor and anoikis regulator JBrowse link 1 220,325,352 220,334,616 RGD:8554872
G Catsper1 cation channel, sperm associated 1 JBrowse link 1 220,715,000 220,724,235 RGD:8554872
G Ccdc85b coiled-coil domain containing 85B JBrowse link 1 220,835,647 220,837,220 RGD:8554872
G Cd248 CD248 molecule JBrowse link 1 220,353,308 220,355,872 RGD:8554872
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 JBrowse link 1 220,474,485 220,480,723 RGD:8554872
G Cst6 cystatin E/M JBrowse link 1 220,727,292 220,729,000 RGD:8554872
G Ctsw cathepsin W JBrowse link 1 220,844,579 220,847,967 RGD:8554872
G Drap1 Dr1 associated protein 1 JBrowse link 1 220,803,783 220,806,480 RGD:8554872
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 1 220,853,695 220,861,420 RGD:7240710
RGD:8554872
G Eif1ad eukaryotic translation initiation factor 1A domain containing JBrowse link 1 220,746,387 220,751,687 RGD:8554872
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
G Fosl1 FOS like 1, AP-1 transcription factor subunit JBrowse link 1 220,826,560 220,835,066 RGD:8554872
G Gal3st3 galactose-3-O-sulfotransferase 3 JBrowse link 1 220,668,544 220,678,300 RGD:8554872
G Klc2 kinesin light chain 2 JBrowse link 1 220,492,174 220,502,397 RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:8554872
G Pacs1 phosphofurin acidic cluster sorting protein 1 JBrowse link 1 220,515,117 220,645,611 RGD:8554872
G Rab1b RAB1B, member RAS oncogene family JBrowse link 1 220,483,529 220,491,469 RGD:8554872
G Rin1 Ras and Rab interactor 1 JBrowse link 1 220,335,036 220,342,319 RGD:8554872
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP JBrowse link 1 220,762,496 220,771,158 RGD:8554872
G Sf3b2 splicing factor 3b, subunit 2 JBrowse link 1 220,645,685 220,665,611 RGD:8554872
G Tmem151a transmembrane protein 151A JBrowse link 1 220,373,288 220,378,080 RGD:8554872
G Tsga10ip testis specific 10 interacting protein JBrowse link 1 220,772,592 220,786,952 RGD:8554872
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein JBrowse link 1 220,470,070 220,474,131 RGD:8554872
autosomal recessive cutis laxa type IC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp4 latent transforming growth factor beta binding protein 4 JBrowse link 1 84,118,046 84,152,095 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 JBrowse link 4 153,351,434 153,373,558 RGD:8554872
RGD:7240710
autosomal recessive cutis laxa type IID term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1a ATPase H+ transporting V1 subunit A JBrowse link 11 61,531,386 61,584,634 RGD:8554872
RGD:7240710
autosomal recessive cutis laxa type III 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:8554872
RGD:13434923
RGD:13434922
autosomal recessive cutis laxa type IIIA 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:13439710
RGD:8554872
RGD:7240710
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:7240710
RGD:8554872
Autosomal Recessive Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
G Nhp2 NHP2 ribonucleoprotein JBrowse link 10 34,975,701 34,979,082 RGD:8554872
RGD:11554173
G Nop10 NOP10 ribonucleoprotein JBrowse link 3 103,747,654 103,748,739 RGD:8554872
RGD:11554173
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link 10 55,571,881 55,593,384 RGD:8554872
G Rmnd5b required for meiotic nuclear division 5 homolog B JBrowse link 10 34,979,902 34,990,985 RGD:8554872
G Slc12a6 solute carrier family 12, member 6 JBrowse link 3 103,752,213 103,852,686 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
G Wrap53 WD repeat containing, antisense to TP53 JBrowse link 10 56,169,024 56,185,800 RGD:8554872
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhp2 NHP2 ribonucleoprotein JBrowse link 10 34,975,701 34,979,082 RGD:8554872
RGD:13592920
G Nop10 NOP10 ribonucleoprotein JBrowse link 3 103,747,654 103,748,739 RGD:8554872
RGD:7240710
G Rmnd5b required for meiotic nuclear division 5 homolog B JBrowse link 10 34,979,902 34,990,985 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhp2 NHP2 ribonucleoprotein JBrowse link 10 34,975,701 34,979,082 RGD:8554872
RGD:7240710
G Rmnd5b required for meiotic nuclear division 5 homolog B JBrowse link 10 34,979,902 34,990,985 RGD:8554872
autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wrap53 WD repeat containing, antisense to TP53 JBrowse link 10 56,169,024 56,185,800 RGD:7240710
RGD:8554872
autosomal recessive dyskeratosis congenita 4 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
autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfrp1 ADP-ribosylation factor related protein 1 JBrowse link 3 176,857,667 176,865,105 RGD:8554872
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:7240710
RGD:8554872
autosomal recessive dyskeratosis congenita 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Parn poly(A)-specific ribonuclease JBrowse link 10 1,309,724 1,461,123 RGD:8554872
RGD:7240710
Autosomal Recessive Dyskeratosis Congenita 7 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:8554872
autosomal recessive Emery-Dreifuss muscular dystrophy 3 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
autosomal recessive hyaline body myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710
RGD:8554872
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:8554872
RGD:13592920
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:8554872
RGD:13592920
autosomal recessive isolated ectopia lentis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:8554872
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 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 Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:11532762
RGD:8554872
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Uck1 uridine-cytidine kinase 1 JBrowse link 3 11,271,874 11,277,757 RGD:8554872
Autosomal Recessive Limb-Girdle Muscular Dystrophy 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:7240710
RGD:8554872
RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13210781
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:7240710
RGD:8554872
RGD:13605619
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11073211
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:7240710
RGD:8554872
RGD:13605612
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:7240710
RGD:8554872
RGD:13605613
RGD:13605614
autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:7240710
RGD:8554872
RGD:11554173
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:1598944
RGD:8554872
RGD:11063285
RGD:11667967
RGD:11667966
RGD:11667965
RGD:11667964
RGD:11667963
RGD:11667961
RGD:7240710
G Strn4 striatin 4 JBrowse link 1 78,739,930 78,765,696 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:7240710
RGD:8554872
RGD:11570561
RGD:11570558
RGD:11066746
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:11576328
autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:7240710
RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adck5 aarF domain containing kinase 5 JBrowse link 7 117,643,976 117,661,789 RGD:8554872
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:8554872
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:8554872
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:8554872
G Exosc4 exosome component 4 JBrowse link 7 117,390,302 117,393,044 RGD:8554872
G Fbxl6 F-box and leucine-rich repeat protein 6 JBrowse link 7 117,602,056 117,604,954 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 7 117,304,742 117,307,916 RGD:8554872
G Hgh1 HGH1 homolog JBrowse link 7 117,434,419 117,437,208 RGD:8554872
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:8554872
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 7 117,417,643 117,420,722 RGD:8554872
G Mroh1 maestro heat-like repeat family member 1 JBrowse link 7 117,445,191 117,472,418 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
G Scrt1 scratch family transcriptional repressor 1 JBrowse link 7 117,583,453 117,587,103 RGD:8554872
G Scx scleraxis bHLH transcription factor JBrowse link 7 117,519,075 117,521,093 RGD:8554872
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:8554872
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:8554872
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Spatc1 spermatogenesis and centriole associated 1 JBrowse link 7 117,326,279 117,349,957 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:8554872
G Vps28 VPS28 subunit of ESCRT-I JBrowse link 7 117,684,339 117,688,187 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2S term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trappc11 trafficking protein particle complex 11 JBrowse link 16 47,874,993 47,920,822 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr17 G protein-coupled receptor 17 JBrowse link 18 24,733,306 24,739,194 RGD:8554872
G Lims2 LIM zinc finger domain containing 2 JBrowse link 18 24,707,951 24,746,159 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bves blood vessel epicardial substance JBrowse link 20 50,439,885 50,474,678 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1aip1 torsin 1A interacting protein 1 JBrowse link 13 73,670,649 73,704,668 RGD:8554872
RGD:7240710
G Tor1aip2 torsin 1A interacting protein 2 JBrowse link 13 73,704,088 73,735,339 RGD:8554872
autosomal recessive mental retardation 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rusc2 RUN and SH3 domain containing 2 JBrowse link 5 58,860,444 58,883,152 RGD:8554872
RGD:7240710
autosomal recessive non-syndromic intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ank3 ankyrin 3 JBrowse link 20 19,948,767 20,480,628 RGD:13592920
G Cc2d1a coiled-coil and C2 domain containing 1A JBrowse link 19 25,246,912 25,261,965 RGD:8554872
RGD:13592920
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain JBrowse link 7 36,395,665 36,408,588 RGD:13592920
G Crbn cereblon JBrowse link 4 138,864,910 138,885,786 RGD:13592920
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Eef1d eukaryotic translation elongation factor 1 delta JBrowse link 7 116,928,264 116,942,981 RGD:8554872
G Grik2 glutamate ionotropic receptor kainate type subunit 2 JBrowse link 20 53,791,428 54,517,691 RGD:13592920
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:13592920
G Kptn kaptin (actin binding protein) JBrowse link 1 78,015,714 78,016,508 RGD:13592920
G Lins1 lines homolog 1 JBrowse link 1 127,599,647 127,625,583 RGD:13592920
G Med23 mediator complex subunit 23 JBrowse link 1 21,539,765 21,587,675 RGD:13592920
G Mettl23 methyltransferase like 23 JBrowse link 10 105,787,935 105,793,307 RGD:13592920
G Mroh6 maestro heat-like repeat family member 6 JBrowse link 7 116,914,826 116,921,487 RGD:8554872
G Nsun2 NOP2/Sun RNA methyltransferase 2 JBrowse link 1 36,295,650 36,319,906 RGD:13592920
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 JBrowse link 9 61,066,170 61,134,963 RGD:13592920
G Prss12 serine protease 12 JBrowse link 2 227,657,983 227,717,884 RGD:13592920
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:13592920
G Taf2 TATA-box binding protein associated factor 2 JBrowse link 7 94,698,987 94,755,924 RGD:13592920
G Tecr trans-2,3-enoyl-CoA reductase JBrowse link 19 24,705,478 24,732,024 RGD:13592920
G Tti2 TELO2 interacting protein 2 JBrowse link 16 64,737,342 64,745,207 RGD:13592920
G Tusc3 tumor suppressor candidate 3 JBrowse link 16 56,248,125 56,396,491 RGD:13592920
G Washc4 WASH complex subunit 4 JBrowse link 7 26,309,279 26,361,221 RGD:13592920
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 JBrowse link 4 115,417,100 115,435,754 RGD:13592920
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8662281
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:8554872
G Gpsm2 G-protein signaling modulator 2 JBrowse link 2 211,480,120 211,528,096 RGD:8554872
G Loxhd1 lipoxygenase homology domains 1 JBrowse link 18 73,645,365 73,812,271 RGD:8554872
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:8554872
G Otof otoferlin JBrowse link 6 27,328,343 27,424,864 RGD:9479154
RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:8554872
Autosomal Recessive Nonsyndromic Deafness 100 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 JBrowse link 9 111,232,967 111,249,613 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 JBrowse link 18 36,308,925 36,334,643 RGD:8554872
RGD:7240710
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eps8 epidermal growth factor receptor pathway substrate 8 JBrowse link 4 171,475,155 171,645,620 RGD:8554872
RGD:7240710
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clic5 chloride intracellular channel 5 JBrowse link 9 19,121,676 19,372,673 RGD:8554872
RGD:7240710
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripor2 RHO family interacting cell polarization regulator 2 JBrowse link 17 42,324,594 42,549,907 RGD:8554872
RGD:7240710
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eps8 epidermal growth factor receptor pathway substrate 8 JBrowse link 4 171,475,155 171,645,620 RGD:8554872
G Eps8l2 EPS8-like 2 JBrowse link 1 214,327,992 214,353,466 RGD:8554872
RGD:7240710
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wbp2 WW domain binding protein 2 JBrowse link 10 104,629,563 104,637,906 RGD:8554872
RGD:7240710
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ror1 receptor tyrosine kinase-like orphan receptor 1 JBrowse link 5 118,892,874 119,239,528 RGD:8554872
RGD:7240710
Autosomal Recessive Nonsyndromic Deafness 109 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esrp1 epithelial splicing regulatory protein 1 JBrowse link 5 24,576,988 24,631,758 RGD:8554872
RGD:7240710
Autosomal Recessive Nonsyndromic Deafness 110 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coch cochlin JBrowse link 6 72,359,702 72,373,710 RGD:8554872
Autosomal Recessive Nonsyndromic Deafness 111 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpzl2 myelin protein zero-like 2 JBrowse link 8 49,342,067 49,353,080 RGD:8554872
RGD:7240710
Autosomal Recessive Nonsyndromic Deafness 112 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB JBrowse link 2 30,248,458 30,340,211 RGD:8554872
RGD:7240710
Autosomal Recessive Nonsyndromic Deafness 113 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component JBrowse link 1 80,773,819 80,783,898 RGD:7240710
RGD:8554872
Autosomal Recessive Nonsyndromic Deafness 114 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grap GRB2-related adaptor protein JBrowse link 10 47,930,633 47,949,774 RGD:7240710
RGD:8554872
Autosomal Recessive Nonsyndromic Deafness 115 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spns2 sphingolipid transporter 2 JBrowse link 10 59,010,428 59,049,482 RGD:7240710
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 JBrowse link 4 145,704,779 145,948,997 RGD:7240710
RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:7240710
RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gipc3 GIPC PDZ domain containing family, member 3 JBrowse link 7 11,245,160 11,253,080 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Catsper2 cation channel, sperm associated 2 JBrowse link 3 113,357,361 113,379,498 RGD:8554872
G Ckmt1 creatine kinase, mitochondrial 1 JBrowse link 3 113,318,559 113,324,459 RGD:8554872
G Strc stereocilin JBrowse link 3 113,324,403 113,343,513 RGD:7240710
RGD:8554872
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8554872
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:7240710
RGD:8554872
RGD:8694458
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otog otogelin JBrowse link 1 102,258,124 102,327,201 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryl1 crystallin, lambda 1 JBrowse link 15 37,543,727 37,663,586 RGD:8554872
G Eef1akmt1 EEF1A lysine methyltransferase 1 JBrowse link 15 37,813,115 37,830,932 RGD:8554872
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:7240710
RGD:8554872
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:7240710
RGD:8554872
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:8554872
G Il17d interleukin 17D JBrowse link 15 37,790,211 37,807,653 RGD:8554872
G Xpo4 exportin 4 JBrowse link 15 37,835,580 37,926,715 RGD:8554872
autosomal recessive nonsyndromic deafness 1B 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:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 2 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
G Tmc1 transmembrane channel-like 1 JBrowse link 1 238,336,919 238,525,792 RGD:8554872
autosomal recessive nonsyndromic deafness 21 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 recessive nonsyndromic deafness 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otoa otoancorin JBrowse link 1 191,029,861 191,097,524 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rdx radixin JBrowse link 8 56,570,728 56,612,851 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 JBrowse link 14 41,663,688 41,787,331 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gab1 GRB2-associated binding protein 1 JBrowse link 19 30,794,290 30,903,819 RGD:8554872
RGD:7240710
autosomal recessive nonsyndromic deafness 28 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
G Triobp TRIO and F-actin binding protein JBrowse link 7 120,173,892 120,237,145 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn14 claudin 14 JBrowse link 11 34,132,581 34,142,813 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 3 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
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo3a myosin IIIA JBrowse link 17 88,952,635 89,167,538 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc14a cell division cycle 14A JBrowse link 2 219,302,577 219,458,345 RGD:8554872
RGD:7240710
RGD:11554173
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esrrb estrogen-related receptor beta JBrowse link 6 110,360,940 110,458,406 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 37 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 recessive nonsyndromic deafness 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:7240710
RGD:8554872
RGD:8548545
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Foxi1 forkhead box I1 JBrowse link 10 19,160,566 19,164,505 RGD:7240710
RGD:8554872
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 JBrowse link 13 90,722,945 90,753,338 RGD:7240710
RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:7240710
RGD:8554872
RGD:7421508
RGD:7411671
RGD:7411556
RGD:7411543
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ildr1 immunoglobulin-like domain containing receptor 1 JBrowse link 11 67,004,042 67,037,115 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy1 adenylate cyclase 1 JBrowse link 14 87,311,970 87,429,880 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cib2 calcium and integrin binding family member 2 JBrowse link 8 59,123,078 59,139,946 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Marveld2 MARVEL domain containing 2 JBrowse link 2 30,612,746 30,634,308 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 53 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 Recessive Nonsyndromic Deafness 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdzd7 PDZ domain containing 7 JBrowse link 1 264,776,393 264,796,206 RGD:8554872
RGD:7240710
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pjvk pejvakin JBrowse link 3 63,508,386 63,518,163 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmie transmembrane inner ear JBrowse link 8 119,142,116 119,157,071 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a5 solute carrier family 26 member 5 JBrowse link 4 9,795,811 9,860,904 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anapc15 anaphase promoting complex subunit 15 JBrowse link 1 166,981,738 166,985,363 RGD:8554872
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing JBrowse link 1 166,985,468 166,989,681 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcdc2 doublecortin domain containing 2 JBrowse link 17 41,838,201 42,031,265 RGD:7240710
RGD:8554872
RGD:10412291
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lhfpl5 LHFPL tetraspan subfamily member 5 JBrowse link 20 5,815,837 5,826,137 RGD:7240710
RGD:11554173
RGD:8554872
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G S1pr2 sphingosine-1-phosphate receptor 2 JBrowse link 8 21,984,914 21,995,806 RGD:8554872
RGD:7240710
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tecta tectorin alpha JBrowse link 8 46,603,728 46,675,658 RGD:8554872
G Tmc1 transmembrane channel-like 1 JBrowse link 1 238,336,919 238,525,792 RGD:7240710
RGD:8554872
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:8554872
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 JBrowse link 14 113,530,470 113,561,645 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msrb3 methionine sulfoxide reductase B3 JBrowse link 7 62,850,506 62,972,487 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syne4 spectrin repeat containing nuclear envelope family member 4 JBrowse link 1 88,772,729 88,777,044 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component JBrowse link 1 80,773,819 80,783,898 RGD:8554872
G Loxhd1 lipoxygenase homology domains 1 JBrowse link 18 73,645,365 73,812,271 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tprn taperin JBrowse link 3 2,480,232 2,487,710 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmprss3 transmembrane serine protease 3 JBrowse link 20 9,910,522 9,929,705 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 84A 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:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otogl otogelin-like JBrowse link 7 51,768,469 51,935,442 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 86 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 recessive nonsyndromic deafness 88 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elmod3 ELMO domain containing 3 JBrowse link 4 100,422,256 100,465,152 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kars lysyl-tRNA synthetase JBrowse link 19 44,212,205 44,231,209 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igsf6 immunoglobulin superfamily, member 6 JBrowse link 1 190,997,029 191,007,503 RGD:8554872
G Mettl9 methyltransferase like 9 JBrowse link 1 190,962,935 191,009,926 RGD:8554872
G Otoa otoancorin JBrowse link 1 191,029,861 191,097,524 RGD:8554872
G Otof otoferlin JBrowse link 6 27,328,343 27,424,864 RGD:7240710
RGD:8554872
RGD:9585724
RGD:9491826
RGD:9491386
RGD:9479161
RGD:9479157
RGD:737640
RGD:9479156
RGD:9479153
G Rai1 retinoic acid induced 1 JBrowse link 10 46,511,271 46,571,591 RGD:8554872
G Tecta tectorin alpha JBrowse link 8 46,603,728 46,675,658 RGD:8554872
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinb6a serpin family B member 6A JBrowse link 17 32,154,747 32,209,598 RGD:8554872
RGD:7240710
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cabp2 calcium binding protein 2 JBrowse link 1 219,329,186 219,335,046 RGD:7240710
RGD:8554872
Autosomal Recessive Nonsyndromic Deafness 94 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 1 161,922,132 162,035,817 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tspear thrombospondin-type laminin G domain and EAR repeats JBrowse link 20 11,501,510 11,529,210 RGD:7240710
RGD:8554872
Autosomal Recessive Nonsyndromic Deafness 99 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem132e transmembrane protein 132E JBrowse link 10 69,735,534 69,794,975 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc154 coiled-coil domain containing 154 JBrowse link 10 14,518,240 14,529,920 RGD:13592920
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 JBrowse link 1 219,126,687 219,139,466 RGD:1599350
RGD:8554872
RGD:7240710
autosomal recessive osteopetrosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfsf11 TNF superfamily member 11 JBrowse link 15 60,482,527 60,512,704 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Car2 carbonic anhydrase 2 JBrowse link 2 88,097,740 88,112,868 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 4 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 recessive osteopetrosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ostm1 osteoclastogenesis associated transmembrane protein 1 JBrowse link 20 47,394,979 47,430,304 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhm1 pleckstrin homology and RUN domain containing M1 JBrowse link 10 91,451,890 91,500,675 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snx10 sorting nexin 10 JBrowse link 4 81,311,490 81,375,248 RGD:7240710
RGD:8554872
autosomal recessive polycystic kidney disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:2325220
RGD:12879406
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:10040950
G Aqp1 aquaporin 1 (Colton blood group) JBrowse link 4 85,551,503 85,563,683 RGD:2307071
RGD:11554173
G Arl3 ADP ribosylation factor like GTPase 3 JBrowse link 1 266,287,015 266,333,099 RGD:13592920
G Bicc1 BicC family RNA binding protein 1 JBrowse link 20 18,780,605 18,940,429 RGD:13592920
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7175542
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:7204130
G Cdc25a cell division cycle 25A JBrowse link 8 117,953,223 117,971,552 RGD:14700990
G Cftr CF transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:2307071
RGD:11554173
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 JBrowse link 5 134,492,734 134,507,158 RGD:2303380
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 JBrowse link 5 134,196,910 134,207,888 RGD:2303380
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 JBrowse link 5 134,468,666 134,484,851 RGD:2303380
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 JBrowse link 5 133,978,953 134,008,255 RGD:2303380
G Cys1 cystin 1 JBrowse link 6 43,844,937 43,862,131 RGD:7175541
RGD:13592920
G Dzip1l DAZ interacting zinc finger protein 1-like JBrowse link 8 107,875,659 107,916,298 RGD:11554173
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:7207865
G Gpbar1 G protein-coupled bile acid receptor 1 JBrowse link 9 81,555,914 81,560,931 RGD:14700993
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:11554173
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:10040950
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:7207453
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:13592920
G Nek8 NIMA-related kinase 8 JBrowse link 10 65,404,489 65,439,059 RGD:13592920
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:10040950
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
RGD:13592920
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link 14 6,602,004 6,645,257 RGD:8554872
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:70439
RGD:8554872
RGD:11062506
RGD:14700917
RGD:11554173
RGD:1642441
G Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease RGD:70439
G Sclt1 sodium channel and clathrin linker 1 JBrowse link 2 128,523,376 128,675,668 RGD:13592920
G Slc4a2 solute carrier family 4 member 2 JBrowse link 4 7,264,677 7,282,355 RGD:2307071
RGD:11554173
G Src SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link 3 153,547,807 153,595,643 RGD:11554173
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:13592920
autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbr lymphotoxin beta receptor JBrowse link 4 157,822,838 157,829,291 RGD:8554872
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:8554872
RGD:7240710
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:8554872
RGD:7240710
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:8554872
RGD:7240710
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:8554872
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:8554872
RGD:11554173
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 RGD:7240710
RGD:8554872
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:8554872
RGD:7240710
autosomal recessive Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11537348
RGD:11537347
RGD:11535948
Autosomal Recessive Robinow Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nxn nucleoredoxin JBrowse link 10 64,411,710 64,550,147 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syt14 synaptotagmin 14 JBrowse link 13 111,630,005 111,766,334 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rubcn rubicon autophagy regulator JBrowse link 11 71,150,506 71,199,254 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jmjd8 jumonji domain containing 8 JBrowse link 10 15,195,954 15,198,870 RGD:8554872
G Stub1 STIP1 homology and U-box containing protein 1 JBrowse link 10 15,197,754 15,200,035 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cwf19l1 CWF19 like cell cycle control factor 1 JBrowse link 1 263,887,014 263,910,251 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grid2 glutamate ionotropic receptor delta type subunit 2 JBrowse link 4 94,068,112 95,476,864 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a1 solute carrier family 9 member A1 JBrowse link 5 151,573,122 151,626,360 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmpca peptidase, mitochondrial processing alpha subunit JBrowse link 3 3,834,262 3,842,061 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Snx14 sorting nexin 14 JBrowse link 8 96,018,943 96,088,405 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scyl1 SCY1 like pseudokinase 1 JBrowse link 1 221,115,992 221,129,668 RGD:7240710
RGD:8554872
Autosomal Recessive Spinocerebellar Ataxia 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vwa3b von Willebrand factor A domain containing 3B JBrowse link 9 43,607,066 43,779,466 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atg5 autophagy related 5 JBrowse link 20 49,301,783 49,393,147 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xrcc1 X-ray repair cross complementing 1 JBrowse link 1 81,412,635 81,441,680 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpp1 tripeptidyl peptidase 1 JBrowse link 1 170,588,036 170,594,159 RGD:7240710
RGD:8554872
Autosomal Recessive Spinocerebellar Ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Fbxo5 F-box protein 5 JBrowse link 1 42,461,277 42,467,646 RGD:8554872
G Mtrf1l mitochondrial translational release factor 1-like JBrowse link 1 42,475,791 42,485,999 RGD:8554872
G Myct1 myc target 1 JBrowse link 1 42,121,572 42,132,131 RGD:8554872
G Rgs17 regulator of G-protein signaling 17 JBrowse link 1 42,491,566 42,587,735 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:7240710
RGD:8554872
RGD:13209001
G Vip vasoactive intestinal peptide JBrowse link 1 42,169,307 42,177,582 RGD:8554872
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tdp1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 6 123,895,860 123,963,688 RGD:8554872
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa7 cytochrome c oxidase assembly factor 7 JBrowse link 5 127,925,726 127,936,516 RGD:7240710
RGD:8554872
Bardet-Biedl syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Arl6 ADP-ribosylation factor like GTPase 6 JBrowse link 11 42,858,476 42,884,324 RGD:1578724
RGD:8554872
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Bbip1 BBSome interacting protein 1 JBrowse link 1 274,649,085 274,663,544 RGD:8554872
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:1579969
RGD:8554872
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
RGD:11352646
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
RGD:70665
G Bbs4 Bardet-Biedl syndrome 4 JBrowse link 8 64,115,005 64,154,432 RGD:8554872
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:1579974
RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:1579975
RGD:8554872
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:9684996
RGD:8554872
G Ccdc28b coiled coil domain containing 28B JBrowse link 5 147,823,446 147,828,449 RGD:9685059
RGD:8554872
G Cep19 centrosomal protein 19 JBrowse link 11 71,921,713 71,938,335 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:11554173
G Eml5 EMAP like 5 JBrowse link 6 122,768,939 122,898,046 RGD:8554872
G Gli1 GLI family zinc finger 1 JBrowse link 7 70,620,794 70,633,171 RGD:8554872
G Higd2al1 HIG1 hypoxia inducible domain family, member 2A-like 1 JBrowse link 12 4,546,240 4,546,871 RGD:8554872
G Htr2b 5-hydroxytryptamine receptor 2B JBrowse link 9 93,112,781 93,130,135 RGD:8554872
G Ift27 intraflagellar transport 27 JBrowse link 7 119,393,384 119,409,710 RGD:8554872
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:1601414
RGD:8554872
RGD:1581208
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:11070512
RGD:8554872
RGD:11554173
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:11352646
G Psmd1 proteasome 26S subunit, non-ATPase 1 JBrowse link 9 93,080,618 93,155,033 RGD:8554872
G Ptpn21 protein tyrosine phosphatase, non-receptor type 21 JBrowse link 6 122,656,500 122,721,496 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
G Spata7 spermatogenesis associated 7 JBrowse link 6 122,603,248 122,648,718 RGD:8554872
G Tbc1d32 TBC1 domain family, member 32 JBrowse link 20 37,463,879 37,701,268 RGD:13592920
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:11070512
RGD:8554872
RGD:11554173
G Trappc3 trafficking protein particle complex 3 JBrowse link 5 144,281,720 144,295,306 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:1624129
RGD:8554872
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:1624198
RGD:8554872
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
G Zc3h14 zinc finger CCCH type containing 14 JBrowse link 6 122,729,834 122,767,462 RGD:8554872
G Zdhhc24 zinc finger, DHHC-type containing 24 JBrowse link 1 220,137,280 220,143,387 RGD:8554872
Bardet-Biedl syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl6 ADP-ribosylation factor like GTPase 6 JBrowse link 11 42,858,476 42,884,324 RGD:8554872
RGD:7240710
G Bbip1 BBSome interacting protein 1 JBrowse link 1 274,649,085 274,663,544 RGD:8554872
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:8554872
RGD:7240710
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
G Bbs4 Bardet-Biedl syndrome 4 JBrowse link 8 64,115,005 64,154,432 RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:8554872
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:8554872
G Ccdc28b coiled coil domain containing 28B JBrowse link 5 147,823,446 147,828,449 RGD:7240710
RGD:8554872
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:8554872
G Stx3 syntaxin 3 JBrowse link 1 228,137,781 228,195,004 RGD:11532386
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:11532386
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
G Zdhhc24 zinc finger, DHHC-type containing 24 JBrowse link 1 220,137,280 220,143,387 RGD:8554872
Bardet-Biedl Syndrome 1/2, Digenic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2