ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked monogenic disease
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Accession:DOID:0050735 term browser browse the term
Definition:Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
Synonyms:exact_synonym: Genetic Diseases, X Chromosome Linked;   X-linked disease;   X-linked genetic disease;   X-linked inheritance
 primary_id: MESH:D040181
 alt_id: RDO:0000273
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked monogenic disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Avpr2 arginine vasopressin receptor 2 JBrowse link X 156,889,006 156,892,707 RGD:11554173
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Msl3 MSL complex subunit 3 JBrowse link X 27,015,826 27,033,562 RGD:11554173
Aarskog syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11554031
RGD:11554030
RGD:11554029
RGD:11554024
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
Abruzzo Erickson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx22 T-box 22 JBrowse link X 78,731,738 78,782,542 RGD:7240710
RGD:8554872
adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 3 160,115,840 160,139,947 RGD:7240710
RGD:8554872
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
adrenoleukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd1 ATP binding cassette subfamily D member 1 JBrowse link X 157,073,860 157,095,652 RGD:1598655
RGD:8554872
RGD:11554173
RGD:7240710
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 JBrowse link 8 59,184,111 59,240,133 RGD:11065111
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Mmp10 matrix metallopeptidase 10 JBrowse link 8 5,734,348 5,742,243 RGD:13204814
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:13204814
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204814
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:11554173
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204814
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:10044243
RGD:8554872
RGD:7240710
Agammaglobulinemia, X-Linked, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 JBrowse link X 37,790,004 38,196,365 RGD:7240710
RGD:8554872
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872
RGD:13782379
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a2 solute carrier family 16 member 2 JBrowse link X 74,578,600 74,706,068 RGD:7240710
RGD:8554872
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-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
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:7240710
amelogenesis imperfecta type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amelx amelogenin, X-linked JBrowse link X 26,439,197 26,450,495 RGD:7240710
RGD:8554872
G Arhgap6 Rho GTPase activating protein 6 JBrowse link X 26,314,561 26,845,242 RGD:8554872
androgen insensitivity syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:7240710
RGD:8554872
RGD:11576240
RGD:11576235
RGD:11576233
RGD:11576232
RGD:11571628
RGD:11571627
RGD:11571622
RGD:11554173
G Fkbp4 FKBP prolyl isomerase 4 JBrowse link 4 161,748,993 161,757,447 RGD:13592920
G Kat7 lysine acetyltransferase 7 JBrowse link 10 83,095,067 83,128,342 RGD:9681005
Androgen Insensitivity Syndrome due to Coactivator Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:8554872
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
Arts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:12910562
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
Atkin Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqsec2 IQ motif and Sec7 domain 2 JBrowse link X 22,212,137 22,293,810 RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
Atypical Mycobacteriosis, Familial, X-Linked 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
Atypical Mycobacteriosis, Familial, X-Linked 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cybb cytochrome b-245 beta chain JBrowse link X 14,578,330 14,610,049 RGD:7240710
RGD:8554872
Barth syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Fkbp1a FKBP prolyl isomerase 1A JBrowse link 3 147,042,944 147,062,725 RGD:13592920
G Mest mesoderm specific transcript JBrowse link 4 58,052,786 58,063,227 RGD:13592920
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:7240710
RGD:8554872
RGD:11554173
blue cone monochromacy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:7240710
RGD:8554872
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phf6 PHD finger protein 6 JBrowse link X 158,698,353 158,739,855 RGD:7240710
RGD:8554872
Brunner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maoa monoamine oxidase A JBrowse link X 6,554,698 6,620,722 RGD:7240710
RGD:8554872
Bruton-type agammaglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:7240710
RGD:8554872
RGD:11040698
RGD:11040588
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 31,742,326 31,826,882 RGD:13592920
Cardiac Valvular Dysplasia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11565121
cataract 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:7240710
RGD:8554872
CD40 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:8554872
RGD:13592920
CD40 ligand deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:5490298
RGD:8554872
RGD:11554173
RGD:11039457
RGD:8547781
RGD:8547779
RGD:7240710
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
Charcot-Marie-Tooth disease X-linked dominant 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdk3 pyruvate dehydrogenase kinase 3 JBrowse link X 62,836,131 62,904,114 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:7240710
RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:7240710
RGD:11554173
RGD:8554872
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:7240710
RGD:8554872
Choroideremia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chm CHM Rab escort protein JBrowse link X 84,666,900 84,821,775 RGD:7240710
RGD:8554872
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:7240710
RGD:8554872
Chromosome Xp11.3 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rp2 RP2 activator of ARL3 GTPase JBrowse link X 2,066,298 2,116,661 RGD:7240710
CK Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:7240710
RGD:8554872
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:7240710
RGD:8554872
RGD:12904735
RGD:12904728
RGD:11568595
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:11554173
Cleft Palate with Ankyloglossia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx22 T-box 22 JBrowse link X 78,731,738 78,782,542 RGD:8554872
Coffin-Lowry syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:7240710
RGD:8554872
RGD:11554173
Combined Cellular and Humoral Immune Defects with Granulomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:7240710
RGD:8554872
combined T cell and B cell immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase, RNA-specific JBrowse link 2 189,045,551 189,085,448 RGD:8554872
G Bcl11b BAF chromatin remodeling complex subunit BCL11B JBrowse link 6 131,834,097 131,927,251 RGD:8554872
G Carmil2 capping protein regulator and myosin 1 linker 2 JBrowse link 19 37,652,383 37,665,333 RGD:8554872
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:5490593
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 JBrowse link 12 19,074,288 19,114,491 RGD:8554872
G Il2rg interleukin 2 receptor subunit gamma JBrowse link X 71,165,378 71,169,078 RGD:7240710
RGD:8554872
RGD:2316325
G Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo RGD:2316325
G Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo RGD:2316325
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Myoc myocilin JBrowse link 13 80,517,531 80,527,928 RGD:8554872
G Rac2 Rac family small GTPase 2 JBrowse link 7 119,769,708 119,797,111 RGD:8554872
G Stat1 signal transducer and activator of transcription 1 JBrowse link 9 54,287,540 54,327,958 RGD:8554872
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:8554872
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:8554872
G Zscan25 zinc finger and SCAN domain containing 25 JBrowse link 12 11,774,920 11,785,530 RGD:8554872
Congenital Adrenal Hypoplasia with Precocious Puberty term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 JBrowse link X 54,734,385 54,738,513 RGD:8554872
congenital disorder of glycosylation type IIm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc120 coiled-coil domain containing 120 JBrowse link X 15,610,230 15,616,727 RGD:8554872
G Eras ES cell expressed Ras JBrowse link X 15,318,215 15,322,601 RGD:8554872
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:8554872
G Glod5 glyoxalase domain containing 5 JBrowse link X 15,225,645 15,240,458 RGD:8554872
G Gripap1 GRIP1 associated protein 1 JBrowse link X 15,523,929 15,553,702 RGD:8554872
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:8554872
G Kcnd1 potassium voltage-gated channel subfamily D member 1 JBrowse link X 15,506,724 15,520,712 RGD:8554872
G Otud5 OTU deubiquitinase 5 JBrowse link X 15,471,212 15,504,372 RGD:8554872
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor JBrowse link X 15,324,263 15,327,705 RGD:8554872
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase JBrowse link X 15,462,621 15,467,890 RGD:8554872
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:8554872
G Praf2 PRA1 domain family, member 2 JBrowse link X 15,618,324 15,620,992 RGD:8554872
G Slc35a2 solute carrier family 35 member A2 JBrowse link X 15,453,184 15,461,990 RGD:7240710
RGD:8554872
G Suv39h1 suppressor of variegation 3-9 homolog 1 JBrowse link X 146,532,002 146,533,538 RGD:8554872
G Tfe3 transcription factor binding to IGHM enhancer 3 JBrowse link X 15,574,579 15,587,826 RGD:8554872
G Timm17b translocase of inner mitochondrial membrane 17b JBrowse link X 15,441,369 15,448,452 RGD:8554872
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:8554872
RGD:7240710
Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
congenital stationary night blindness 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:7240710
RGD:8554872
congenital stationary night blindness 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872
Cornelia de Lange syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqsec2 IQ motif and Sec7 domain 2 JBrowse link X 22,212,137 22,293,810 RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
RGD:7240710
Cornelia de Lange syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmrtc1a DMRT-like family C1a JBrowse link X 72,624,660 72,654,258 RGD:8554872
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
RGD:13208817
RGD:11068490
RGD:7240710
G Nap1l2 nucleosome assembly protein 1-like 2 JBrowse link X 73,997,274 73,999,677 RGD:8554872
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A JBrowse link X 73,894,603 73,895,742 RGD:8554872
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:8554872
coronin-1A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:7240710
RGD:8554872
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 1 198,199,032 198,209,178 RGD:8554872
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:8554872
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 1 198,219,012 198,225,775 RGD:8554872
G Rhoh ras homolog family member H JBrowse link 14 43,961,756 43,992,587 RGD:8554872
G Tbx6 T-box 6 JBrowse link 1 198,214,797 198,218,706 RGD:8554872
G Ypel3 yippee-like 3 JBrowse link 1 198,210,525 198,213,821 RGD:8554872
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igbp1 immunoglobulin binding protein 1 JBrowse link X 70,322,764 70,345,005 RGD:7240710
RGD:8554872
Corpus Callosum, Partial Agenesis of, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:7240710
RGD:8554872
craniofrontonasal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efnb1 ephrin B1 JBrowse link X 68,891,227 68,904,034 RGD:7240710
RGD:8554872
RGD:11554173
creatine transporter deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:7240710
RGD:8554872
RGD:11554173
Danon disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap14 A-kinase anchoring protein 14 JBrowse link X 123,773,430 123,788,898 RGD:8554872
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 JBrowse link X 124,631,544 124,652,520 RGD:8554872
G Lamp2 lysosomal-associated membrane protein 2 JBrowse link X 124,722,628 124,766,079 RGD:7240710
RGD:8554872
RGD:13703117
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 RGD:13703117
G LOC100364002 reproductive homeobox 9-like JBrowse link X 123,999,683 124,002,081 RGD:8554872
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 123,803,109 123,806,760 RGD:8554872
G Nkap NFKB activating protein JBrowse link X 123,751,196 123,770,595 RGD:8554872
G Rhox10 reproductive homeobox 10 JBrowse link X 124,207,017 124,211,455 RGD:8554872
G Rnf113a1 ring finger protein 113A1 JBrowse link X 123,806,922 123,808,049 RGD:8554872
G Tmem255a transmembrane protein 255A JBrowse link X 124,400,686 124,465,156 RGD:8554872
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:8554872
G Zbtb33 zinc finger and BTB domain containing 33 JBrowse link X 124,319,299 124,326,506 RGD:8554872
Deafness, High-Frequency Sensorineural, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:8554872
Deafness, X-Linked 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:11061884
RGD:8554872
Deafness, X-Linked 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smpx small muscle protein, X-linked JBrowse link X 40,029,200 40,086,870 RGD:7240710
RGD:8554872
Deafness, X-Linked 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
RGD:7240710
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
Deafness, X-Linked 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:7240710
RGD:8554872
Dent disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:11554173
RGD:8554872
G Ocrl OCRL, inositol polyphosphate-5-phosphatase JBrowse link X 134,742,226 134,793,411 RGD:13592920
Dent Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:7240710
RGD:8554872
G Mir188 microRNA 188 JBrowse link X 16,110,270 16,110,349 RGD:8554872
G Mir500 microRNA 500 JBrowse link X 16,121,332 16,121,411 RGD:8554872
G Mir532 microRNA 532 JBrowse link X 16,109,870 16,109,948 RGD:8554872
Dent Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inpp5b inositol polyphosphate-5-phosphatase B JBrowse link 5 142,731,767 142,796,305 RGD:8554872
G Ocrl OCRL, inositol polyphosphate-5-phosphatase JBrowse link X 134,742,226 134,793,411 RGD:7240710
RGD:8554872
Dilated Cardiomyopathy 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
Dilated Cardiomyopathy with Left Ventricular Noncompaction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:8554872
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Ctnna3 catenin alpha 3 JBrowse link 20 25,063,124 26,640,428 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Dtna dystrobrevin, alpha JBrowse link 18 14,544,725 14,671,514 RGD:8554872
G Fhl2 four and a half LIM domains 2 JBrowse link 9 49,920,611 49,994,906 RGD:8554872
G Jph2 junctophilin 2 JBrowse link 3 159,709,998 159,776,536 RGD:8554872
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Rbm20 RNA binding motif protein 20 JBrowse link 1 274,391,932 274,589,816 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Vcl vinculin JBrowse link 15 3,455,211 3,544,738 RGD:8554872
Distal Arthrogryposis Multiplex Congenita, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uba1 ubiquitin-like modifier activating enzyme 1 JBrowse link X 1,723,135 1,745,147 RGD:7240710
RGD:8554872
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
DNA ligase IV deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lig4 DNA ligase 4 JBrowse link 16 85,331,771 85,339,496 RGD:7240710
RGD:8554872
RGD:13204717
RGD:13204707
RGD:8694074
Duchenne muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap6 A-kinase anchoring protein 6 JBrowse link 6 73,553,111 73,991,992 RGD:14349026
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:11554173
G Cd4 Cd4 molecule JBrowse link 4 157,381,862 157,408,357 RGD:11554173
G Ctss cathepsin S JBrowse link 2 197,655,780 197,679,768 RGD:13592920
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11073211
RGD:11552581
RGD:11537476
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:1580859
RGD:8554872
RGD:12880034
RGD:12880014
RGD:12880007
RGD:11040981
RGD:12879862
RGD:11554173
RGD:737706
RGD:7240710
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang RGD:12880034
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi RGD:11040981
G Itga7 integrin subunit alpha 7 JBrowse link 7 3,355,079 3,383,886 RGD:13601981
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204809
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:13825135
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:12910703
G Postn periostin JBrowse link 2 143,656,820 143,688,087 RGD:11554173
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
G Stx1b syntaxin 1B JBrowse link 1 199,251,842 199,270,465 RGD:12903957
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:12903957
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link 10 107,338,465 107,386,072 RGD:1580161
G Utrn utrophin JBrowse link 1 6,451,809 6,970,040 RGD:737706
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bend2 BEN domain containing 2 JBrowse link X 35,151,376 35,200,501 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
RGD:7240710
RGD:12791015
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
G Rai2 retinoic acid induced 2 JBrowse link X 34,731,891 34,794,589 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Scml1 Scm polycomb group protein like 1 JBrowse link X 34,676,728 34,694,251 RGD:8554872
G Scml2 Scm polycomb group protein like 2 JBrowse link X 35,305,235 35,431,271 RGD:8554872
early infantile epileptic encephalopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 JBrowse link X 64,249,576 64,428,444 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:7240710
RGD:8554872
G Srpx2 sushi-repeat-containing protein, X-linked 2 JBrowse link X 104,734,035 104,760,658 RGD:8554872
G Tnmd tenomodulin JBrowse link X 104,684,676 104,700,173 RGD:8554872
G Tspan6 tetraspanin 6 JBrowse link X 104,719,930 104,729,606 RGD:8554872
Early Onset Parkinsonism with Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clic2 chloride intracellular channel 2 JBrowse link 20 295,338 310,363 RGD:8554872
Ectodermal Dysplasia 1, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eda ectodysplasin-A JBrowse link X 69,730,123 70,222,693 RGD:1598881
RGD:8554872
RGD:7240710
G Eda2r ectodysplasin A2 receptor JBrowse link X 66,560,200 66,602,509 RGD:8554872
Encephalopathy, Neonatal Severe, due to Mecp2 Mutations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd1 ATP binding cassette subfamily D member 1 JBrowse link X 157,073,860 157,095,652 RGD:8554872
G Arhgap4 Rho GTPase activating protein 4 JBrowse link X 156,873,094 156,888,762 RGD:8554872
G Atp6ap1 ATPase H+ transporting accessory protein 1 JBrowse link X 156,407,973 156,415,053 RGD:8554872
G Avpr2 arginine vasopressin receptor 2 JBrowse link X 156,889,006 156,892,707 RGD:8554872
G Bcap31 B-cell receptor-associated protein 31 JBrowse link X 157,094,365 157,126,397 RGD:8554872
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
G Fam3a family with sequence similarity 3, member A JBrowse link X 156,319,687 156,328,974 RGD:8554872
G Fam50a family with sequence similarity 50, member A JBrowse link X 156,392,646 156,399,763 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Gdi1 GDP dissociation inhibitor 1 JBrowse link X 156,400,734 156,407,396 RGD:8554872
G Hcfc1 host cell factor C1 JBrowse link X 156,812,012 156,837,227 RGD:8554872
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 gamma JBrowse link X 156,999,803 157,008,735 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:8554872
G Irak1 interleukin-1 receptor-associated kinase 1 JBrowse link X 156,716,469 156,726,367 RGD:8554872
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:8554872
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:7240710
RGD:8554872
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:8554872
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:8554872
G Pdzd4 PDZ domain containing 4 JBrowse link X 156,963,343 156,993,591 RGD:8554872
G Plxna3 plexin A3 JBrowse link X 156,363,400 156,379,433 RGD:8554872
G Plxnb3 plexin B3 JBrowse link X 157,015,297 157,030,147 RGD:8554872
G Renbp renin binding protein JBrowse link X 156,854,490 156,863,548 RGD:8554872
G Rpl10 ribosomal protein L10 JBrowse link X 156,438,251 156,440,461 RGD:8554872
G Slc10a3 solute carrier family 10, member 3 JBrowse link X 156,335,385 156,340,256 RGD:8554872
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:8554872
G Srpk3 SRSF protein kinase 3 JBrowse link X 157,008,773 157,014,342 RGD:8554872
G Ssr4 signal sequence receptor subunit 4 JBrowse link X 156,995,763 156,999,702 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tex28 testis expressed 28 JBrowse link X 156,540,442 156,569,272 RGD:8554872
G Tktl1 transketolase-like 1 JBrowse link X 156,507,797 156,540,733 RGD:8554872
G Ubl4a ubiquitin-like 4A JBrowse link X 156,340,919 156,343,771 RGD:8554872
Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:7240710
RGD:8554872
Fabry 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:12879402
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:13432161
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:11576234
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:1601350
RGD:8554872
RGD:11554173
RGD:7240710
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 JBrowse link X 105,417,603 105,423,531 RGD:8554872
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:6907117
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13432071
Fabry Disease, Cardiac Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:8554872
Facial Ectodermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:7240710
RGD:8554872
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcfd2 multiple coagulation factor deficiency 2 JBrowse link 6 10,887,303 10,899,221 RGD:7240710
RGD:11062141
RGD:8554872
factor VIII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11041156
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:11041156
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352263
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:11041156
G Cfp complement factor properdin JBrowse link X 1,311,121 1,316,683 RGD:11041156
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11565076
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:1582357
RGD:8554872
RGD:7245964
RGD:11554173
RGD:11530071
RGD:10450758
RGD:10450757
RGD:7240710
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb RGD:7245964
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:11554173
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11040767
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:10755564
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11055683
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049183
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:10449409
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11552591
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:11041784
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11060141
RGD:11060256
RGD:11060147
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11055683
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:11073776
Factor VIII Deficiency, Acquired term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:11554173
Familial Exudative Vitreoretinopathy, X-Linked Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:8694209
RGD:8554872
RGD:7240710
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lman1 lectin, mannose-binding, 1 JBrowse link 18 61,683,377 61,707,344 RGD:7240710
RGD:8554872
G Mcfd2 multiple coagulation factor deficiency 2 JBrowse link 6 10,887,303 10,899,221 RGD:8554872
favism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:11554173
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:11554173
RGD:8554872
RGD:7240710
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:8554872
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:7240710
RGD:8554872
RGD:11576290
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11554173
G Gpr34 G protein-coupled receptor 34 JBrowse link X 10,022,986 10,043,504 RGD:8554872
G Gpr82 G protein-coupled receptor 82 JBrowse link X 9,992,832 10,001,036 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910952
RGD:12910948
RGD:11554173
G Med14 mediator complex subunit 14 JBrowse link X 10,964,035 11,082,403 RGD:8554872
G Mpc1l mitochondrial pyruvate carrier 1-like JBrowse link X 11,098,849 11,105,312 RGD:8554872
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:8554872
G RGD1565685 similar to RIKEN cDNA 1810030O07 JBrowse link X 11,082,668 11,105,588 RGD:8554872
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:8554872
focal dermal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Porcn porcupine O-acyltransferase JBrowse link X 15,035,569 15,048,440 RGD:7240710
RGD:8554872
RGD:11554173
Focal Facial Dermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:11554173
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:7240710
RGD:8554872
fragile X syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgb androglobin JBrowse link 1 4,445,039 4,588,507 RGD:8554872
G Aff2 AF4/FMR2 family, member 2 JBrowse link X 153,539,951 154,051,022 RGD:7240710
RGD:8554872
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:11554173
G Cyfip1 cytoplasmic FMR1 interacting protein 1 JBrowse link 1 114,258,773 114,347,138 RGD:11558008
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:10401097
G Fmr1 fragile X mental retardation 1 JBrowse link X 154,684,924 154,722,369 RGD:1601178
RGD:8554872
RGD:11554173
RGD:11566052
RGD:11566028
RGD:7240710
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:8554872
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204755
RGD:11572344
G Nrxn3 neurexin 3 JBrowse link 6 112,133,204 114,069,589 RGD:11554325
G Rab32 RAB32, member RAS oncogene family JBrowse link 1 4,638,663 4,653,220 RGD:8554872
G Serpina1 serpin family A member 1 JBrowse link 6 127,610,241 127,632,265 RGD:8554872
fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fmr1 fragile X mental retardation 1 JBrowse link X 154,684,924 154,722,369 RGD:7240710
RGD:12050151
RGD:11554173
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655858
glycogen storage disease IXa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phka2 phosphorylase kinase regulatory subunit alpha 2 JBrowse link X 35,970,650 36,926,616 RGD:7240710
RGD:8554872
glycogen storage disease IXd term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:7240710
RGD:8554872
hemophilia B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11565076
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:9685705
RGD:8554872
RGD:11554173
RGD:10450764
RGD:10450762
RGD:10450761
RGD:10450760
RGD:10450759
RGD:7240710
hereditary spastic paraplegia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plp1 proteolipid protein 1 JBrowse link X 107,494,326 107,511,355 RGD:7240710
RGD:8554872
G Rab9b RAB9B, member RAS oncogene family JBrowse link X 107,531,404 107,542,510 RGD:8554872
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1b DNA cross-link repair 1B JBrowse link 2 206,285,085 206,293,599 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
Hypogammaglobulinemia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:8554872
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
RGD:12791265
Hypospadias 1, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:7240710
RGD:8554872
Idiopathic Short Stature, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC691272 similar to reproductive homeobox on X chromosome, 11 JBrowse link X 124,045,727 124,052,708 RGD:7240710
RGD:8554872
IGSF1 deficiency syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igsf1 immunoglobulin superfamily, member 1 JBrowse link X 136,792,637 136,808,107 RGD:7240710
RGD:8554872
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orai1 ORAI calcium release-activated calcium modulator 1 JBrowse link 12 38,981,903 38,995,570 RGD:7240710
RGD:8554872
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:7240710
RGD:8554872
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp3 forkhead box P3 JBrowse link X 15,753,175 15,768,648 RGD:1598959
RGD:8554872
RGD:7240710
Immunodeficiency 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:7240710
RGD:8554872
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Extl3 exostosin-like glycosyltransferase 3 JBrowse link 15 48,420,419 48,465,171 RGD:8554872
RGD:7240710
Inherited Thyroxine-Binding Globulin Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpina7 serpin family A member 7 JBrowse link X 110,226,565 110,232,202 RGD:8554872
isolated growth hormone deficiency type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:7240710
RGD:8554872
Isolated Noncompaction of the Ventricular Myocardium term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr2c2 nuclear receptor subfamily 2, group C, member 2 JBrowse link 4 124,005,287 124,030,349 RGD:7775017
janus kinase-3 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:13592920
Joubert syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:7240710
RGD:8554872
RGD:11535965
RGD:11535963
Kennedy's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:734599
RGD:8554872
RGD:11576241
RGD:11576229
RGD:7240710
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:6218978
Keratosis Follicularis Spinulosa Decalvans, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:7240710
RGD:8554872
left ventricular noncompaction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:8554872
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
G Dtna dystrobrevin, alpha JBrowse link 18 14,544,725 14,671,514 RGD:13592920
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 JBrowse link 8 63,599,907 63,637,327 RGD:8554872
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon JBrowse link 10 63,884,338 63,921,709 RGD:13592920
Left Ventricular Noncompaction 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtna dystrobrevin, alpha JBrowse link 18 14,544,725 14,671,514 RGD:8554872
RGD:7240710
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
Left Ventricular Noncompaction 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:7240710
RGD:8554872
Left Ventricular Noncompaction 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
Left Ventricular Noncompaction 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mib1 mindbomb E3 ubiquitin protein ligase 1 JBrowse link 18 1,970,914 2,094,920 RGD:7240710
RGD:8554872
Left Ventricular Noncompaction 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm16 PR/SET domain 16 JBrowse link 5 171,662,277 171,711,561 RGD:7240710
RGD:8554872
Leigh Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:8554872
Lesch-Nyhan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hprt1 hypoxanthine phosphoribosyltransferase 1 JBrowse link X 158,196,640 158,228,815 RGD:7240710
RGD:8554872
RGD:13463104
RGD:13462064
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:7247657
Lesch-Nyhan Syndrome, Neurologic Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hprt1 hypoxanthine phosphoribosyltransferase 1 JBrowse link X 158,196,640 158,228,815 RGD:8554872
RGD:13463104
Linear Skin Defects with Multiple Congenital Anomalies 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 1,787,266 1,789,524 RGD:7240710
RGD:8554872
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:8554872
Lissencephaly, X-Linked, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
RGD:11565832
Lubs Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:8554872
Lujan Fryns Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910949
Macular Degeneration, X-Linked Atrophic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:7240710
RGD:8554872
MASA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:6483061
RGD:8554872
RGD:11570406
RGD:11064095
RGD:11554173
RGD:7240710
megalocornea term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrdl1 chordin-like 1 JBrowse link X 114,554,359 114,658,975 RGD:8554872
RGD:7240710
MEHMO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma JBrowse link X 63,268,106 63,291,125 RGD:8554872
RGD:7240710
MEND SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:8554872
RGD:7240710
Menkes disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:734621
RGD:8554872
RGD:12879459
RGD:11554173
RGD:11340200
RGD:11252186
RGD:11252183
RGD:11252182
RGD:7240710
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:11554173
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:1581895
RGD:13592920
Mental Retardation, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agtr2 angiotensin II receptor, type 2 JBrowse link X 119,389,480 119,393,845 RGD:11554173
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 JBrowse link X 159,722,031 159,841,344 RGD:8554872
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 JBrowse link X 64,249,576 64,428,444 RGD:11554173
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:1599257
RGD:11565836
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:11040586
RGD:11554173
G Brwd3 bromodomain and WD repeat domain containing 3 JBrowse link X 79,817,968 79,909,891 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:11554173
G Dipk2b divergent protein kinase domain 2B JBrowse link X 4,691,406 4,743,999 RGD:11554173
G Dlg3 discs large MAGUK scaffold protein 3 JBrowse link X 70,596,246 70,648,529 RGD:1300392
RGD:11554173
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:11554173
G Gdi1 GDP dissociation inhibitor 1 JBrowse link X 156,400,734 156,407,396 RGD:11554173
RGD:13208827
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 JBrowse link X 55,439,388 57,004,865 RGD:11554173
RGD:8554872
G Iqsec2 IQ motif and Sec7 domain 2 JBrowse link X 22,212,137 22,293,810 RGD:11554173
G LOC100363372 zinc finger protein 81 (HFZ20)-like JBrowse link X 1,034,455 1,112,282 RGD:8554872
G Maoa monoamine oxidase A JBrowse link X 6,554,698 6,620,722 RGD:11554173
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:1601320
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:12910947
RGD:12910952
G Ophn1 oligophrenin 1 JBrowse link X 68,185,865 68,579,518 RGD:11554173
RGD:13207442
RGD:13207441
G Pak3 p21 (RAC1) activated kinase 3 JBrowse link X 114,784,452 115,042,683 RGD:8554872
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:11554173
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:11554173
G Ptchd1 patched domain containing 1 JBrowse link X 42,558,912 42,610,430 RGD:11554173
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:11554173
G Syp synaptophysin JBrowse link X 15,694,699 15,709,244 RGD:11554173
RGD:8554872
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:11554173
RGD:8554872
G Zfp711 zinc finger protein 711 JBrowse link X 84,062,363 84,095,888 RGD:11554173
RGD:8554872
MENTAL RETARDATION, X-LINKED 100 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif4a kinesin family member 4A JBrowse link X 70,461,700 70,561,084 RGD:7240710
MENTAL RETARDATION, X-LINKED 101 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid2 midline 2 JBrowse link X 112,019,897 112,121,980 RGD:8554872
RGD:7240710
Mental Retardation, X-Linked 102 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:7240710
RGD:8554872
MENTAL RETARDATION, X-LINKED 103 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl15 kelch-like family member 15 JBrowse link X 63,342,277 63,390,915 RGD:8554872
RGD:7240710
MENTAL RETARDATION, X-LINKED 104 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmpd4 FERM and PDZ domain containing 4 JBrowse link X 27,231,648 28,206,890 RGD:8554872
RGD:7240710
MENTAL RETARDATION, X-LINKED 105 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Usp27x ubiquitin specific peptidase 27, X-linked JBrowse link X 15,987,964 15,991,149 RGD:8554872
RGD:7240710
MENTAL RETARDATION, X-LINKED 107 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1564541 similar to hypothetical protein FLJ22965 JBrowse link X 123,460,280 123,486,814 RGD:8554872
RGD:7240710
MENTAL RETARDATION, X-LINKED 108 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a7 solute carrier family 9 member A7 JBrowse link X 2,434,918 2,615,936 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thoc2 THO complex 2 JBrowse link X 128,153,824 128,268,327 RGD:8554872
RGD:7240710
Mental Retardation, X-Linked 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 JBrowse link X 55,439,388 57,004,865 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpt centromere protein T JBrowse link 19 37,813,284 37,819,782 RGD:8554872
G Hcfc1 host cell factor C1 JBrowse link X 156,812,012 156,837,227 RGD:7240710
RGD:8554872
G Thap11 THAP domain containing 11 JBrowse link 19 37,825,576 37,827,393 RGD:8554872
Mental Retardation, X-Linked 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 JBrowse link X 21,696,796 21,699,241 RGD:7240710
Mental Retardation, X-Linked 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100363372 zinc finger protein 81 (HFZ20)-like JBrowse link X 1,034,455 1,112,282 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 JBrowse link X 159,722,031 159,841,344 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pak3 p21 (RAC1) activated kinase 3 JBrowse link X 114,784,452 115,042,683 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn4 chloride voltage-gated channel 4 JBrowse link X 25,016,177 25,082,563 RGD:8554872
RGD:7240710
Mental Retardation, X-Linked 58 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tspan7 tetraspanin 7 JBrowse link X 13,261,551 13,282,886 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rlim ring finger protein, LIM domain interacting JBrowse link X 73,757,664 73,778,763 RGD:8554872
RGD:7240710
Mental Retardation, X-Linked 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsl4 acyl-CoA synthetase long-chain family member 4 JBrowse link X 113,596,247 113,660,024 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 78 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqsec2 IQ motif and Sec7 domain 2 JBrowse link X 22,212,137 22,293,810 RGD:7240710
RGD:8554872
RGD:11554173
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
Mental Retardation, X-Linked 88 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agtr2 angiotensin II receptor, type 2 JBrowse link X 119,389,480 119,393,845 RGD:8554872
Mental Retardation, X-Linked 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 JBrowse link X 14,993,685 15,006,010 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 91 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zdhhc15 zinc finger, DHHC-type containing 15 JBrowse link X 75,433,957 75,566,531 RGD:7240710
Mental Retardation, X-Linked 93 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brwd3 bromodomain and WD repeat domain containing 3 JBrowse link X 79,817,968 79,909,891 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 95 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Magt1 magnesium transporter 1 JBrowse link X 77,023,423 77,061,603 RGD:7240710
Mental Retardation, X-Linked 96 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syp synaptophysin JBrowse link X 15,694,699 15,709,244 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 97 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp711 zinc finger protein 711 JBrowse link X 84,062,363 84,095,888 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 98 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nexmif neurite extension and migration factor JBrowse link X 74,943,440 75,053,559 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 99 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:8554872
RGD:7240710
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:8554872
RGD:7240710
Mental Retardation, X-Linked, 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdi1 GDP dissociation inhibitor 1 JBrowse link X 156,400,734 156,407,396 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked, 90 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlg3 discs large MAGUK scaffold protein 3 JBrowse link X 70,596,246 70,648,529 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked, Syndromic 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked, Syndromic 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf1 TATA-box binding protein associated factor 1 JBrowse link X 71,412,291 71,486,456 RGD:8554872
RGD:7240710
Mental Retardation, X-Linked, Syndromic, Bain Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 JBrowse link X 105,417,603 105,423,531 RGD:8554872
RGD:7240710
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox3 SRY-box 3 JBrowse link X 144,035,162 144,037,364 RGD:8554872
RGD:11535974
Mental Retardation, X-Linked, with or without Seizures, Arx-Related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked, with Panhypopituitarism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox3 SRY-box 3 JBrowse link X 144,035,162 144,037,364 RGD:7240710
RGD:8554872
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 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
RGD:13442490
RGD:11040909
RGD:1599406
MHC class I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tap1 transporter 1, ATP binding cassette subfamily B member JBrowse link 20 3,979,302 3,989,669 RGD:7240710
RGD:8554872
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link 20 3,995,544 4,009,587 RGD:7240710
RGD:8554872
G Tapbp TAP binding protein JBrowse link 20 5,468,056 5,476,007 RGD:7240710
RGD:8554872
MHC class II deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Borcs8 BLOC-1 related complex subunit 8 JBrowse link 16 21,022,500 21,029,163 RGD:8554872
G Ciita class II, major histocompatibility complex, transactivator JBrowse link 10 5,212,621 5,260,641 RGD:1600188
RGD:8554872
RGD:7240710
RGD:5491200
G Nr2c2ap nuclear receptor 2C2-associated protein JBrowse link 16 21,036,648 21,039,481 RGD:8554872
G Rfx5 regulatory factor X5 JBrowse link 2 196,119,054 196,128,109 RGD:8554872
RGD:7240710
G Rfxank regulatory factor X-associated ankyrin-containing protein JBrowse link 16 21,029,449 21,037,080 RGD:8554872
RGD:7240710
G Rfxap regulatory factor X-associated protein JBrowse link 2 144,003,453 144,007,636 RGD:8554872
RGD:7240710
Microphthalmia, Syndromic 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox7b cytochrome c oxidase subunit 7B JBrowse link X 77,065,427 77,071,676 RGD:11554173
G Hccs holocytochrome c synthase JBrowse link X 26,294,028 26,303,461 RGD:7240710
RGD:8554872
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 1,787,266 1,789,524 RGD:11554173
RGD:8554872
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710
Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
RGD:8554872
RGD:7240710
mucopolysaccharidosis II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ids iduronate 2-sulfatase JBrowse link 8 69,447,971 69,466,708 RGD:1599819
RGD:8554872
RGD:12910721
RGD:7240710
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piga phosphatidylinositol glycan anchor biosynthesis, class A JBrowse link X 31,786,823 31,799,751 RGD:7240710
RGD:8554872
Myopathy, Reducing Body, X-Linked, Childhood-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:7240710
RGD:8554872
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:7240710
RGD:8554872
MYOPIA 26, X-LINKED, FEMALE-LIMITED term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arr3 arrestin 3 JBrowse link X 70,438,590 70,452,140 RGD:8554872
RGD:7240710
Nance-Horan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:1598795
RGD:8554872
RGD:7240710
Nasodigitoacoustic Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc4 glypican 4 JBrowse link X 139,354,325 139,464,876 RGD:8554872
Nephrogenic Syndrome of Inappropriate Antidiuresis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Avpr2 arginine vasopressin receptor 2 JBrowse link X 156,889,006 156,892,707 RGD:7240710
RGD:8554872
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:7240710
RGD:8554872
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stag2 stromal antigen 2 JBrowse link X 128,493,603 128,624,418 RGD:7240710
non-syndromic X-linked intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsl4 acyl-CoA synthetase long-chain family member 4 JBrowse link X 113,596,247 113,660,024 RGD:8554872
RGD:13592920
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 JBrowse link X 159,722,031 159,841,344 RGD:8554872
G Brwd3 bromodomain and WD repeat domain containing 3 JBrowse link X 79,817,968 79,909,891 RGD:8554872
RGD:13592920
G Clcn4 chloride voltage-gated channel 4 JBrowse link X 25,016,177 25,082,563 RGD:13592920
G Dlg3 discs large MAGUK scaffold protein 3 JBrowse link X 70,596,246 70,648,529 RGD:13592920
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:11554032
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 JBrowse link X 14,993,685 15,006,010 RGD:13592920
G Gdi1 GDP dissociation inhibitor 1 JBrowse link X 156,400,734 156,407,396 RGD:13208823
RGD:13592920
RGD:13208831
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 JBrowse link X 55,439,388 57,004,865 RGD:8554872
RGD:13592920
G Iqsec2 IQ motif and Sec7 domain 2 JBrowse link X 22,212,137 22,293,810 RGD:13592920
G Kif4a kinesin family member 4A JBrowse link X 70,461,700 70,561,084 RGD:13592920
G LOC100363372 zinc finger protein 81 (HFZ20)-like JBrowse link X 1,034,455 1,112,282 RGD:8554872
G Nexmif neurite extension and migration factor JBrowse link X 74,943,440 75,053,559 RGD:13592920
G Pak3 p21 (RAC1) activated kinase 3 JBrowse link X 114,784,452 115,042,683 RGD:8554872
RGD:13592920
G Pof1b POF1B, actin binding protein JBrowse link X 84,099,618 84,167,717 RGD:8554872
G Rlim ring finger protein, LIM domain interacting JBrowse link X 73,757,664 73,778,763 RGD:8554872
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:13592920
G Syp synaptophysin JBrowse link X 15,694,699 15,709,244 RGD:8554872
RGD:13592920
G Tspan7 tetraspanin 7 JBrowse link X 13,261,551 13,282,886 RGD:13592920
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:8554872
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:13592920
G Zdhhc15 zinc finger, DHHC-type containing 15 JBrowse link X 75,433,957 75,566,531 RGD:13592920
G Zfp711 zinc finger protein 711 JBrowse link X 84,062,363 84,095,888 RGD:8554872
RGD:13592920
Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
Norrie disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:13592920
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:7240710
RGD:8554872
G Tspan12 tetraspanin 12 JBrowse link 4 48,852,823 48,953,240 RGD:8554872
Nystagmus 1, Congenital, X- Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd7 FERM domain containing 7 JBrowse link X 138,095,707 138,149,702 RGD:7240710
RGD:11554173
RGD:8554872
oculocerebrorenal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actrt1 actin-related protein T1 JBrowse link X 133,227,699 133,229,052 RGD:8554872
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 JBrowse link X 131,340,045 131,344,038 RGD:8554872
G Ocrl OCRL, inositol polyphosphate-5-phosphatase JBrowse link X 134,742,226 134,793,411 RGD:7240710
RGD:8554872
RGD:11554173
G Prr32 proline rich 32 JBrowse link X 131,617,765 131,619,762 RGD:8554872
G Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 JBrowse link X 134,634,651 134,719,503 RGD:8554872
Ogden syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:7240710
RGD:8554872
Omenn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:7240710
RGD:8554872
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:1599403
RGD:7240710
Opitz GBBB Syndrome, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:7240710
RGD:8554872
ornithine carbamoyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743607
G Otc ornithine carbamoyltransferase JBrowse link X 13,524,804 13,601,074 RGD:4144079
RGD:8554872
RGD:7240710
RGD:11554173
RGD:1600999
RGD:1600998
RGD:4144085
orofaciodigital syndrome I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:7240710
RGD:8554872
RGD:11535968
RGD:11535966
RGD:11535960
RGD:11535958
RGD:11535957
ovarian dysgenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp15 bone morphogenetic protein 15 JBrowse link X 17,016,831 17,021,894 RGD:7240710
RGD:8554872
Partington syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
RGD:11565843
Pelizaeus-Merzbacher disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:8554872
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:11554173
G Plp1 proteolipid protein 1 JBrowse link X 107,494,326 107,511,355 RGD:1358783
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1358559
G Rab9b RAB9B, member RAS oncogene family JBrowse link X 107,531,404 107,542,510 RGD:8554872
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
RGD:11554173
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acox1 acyl-CoA oxidase 1 JBrowse link 10 104,724,534 104,748,003 RGD:7240710
RGD:8554872
G Ten1 TEN1 subunit of CST complex JBrowse link 10 105,073,077 105,095,094 RGD:8554872
Peroxisome Biogenesis Disorder 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:7240710
RGD:8554872
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) JBrowse link 15 34,216,735 34,224,357 RGD:8554872
RGD:7240710
Phosphoglycerate Kinase 1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cysltr1 cysteinyl leukotriene receptor 1 JBrowse link X 77,671,028 77,700,491 RGD:8554872
G Lpar4 lysophosphatidic acid receptor 4 JBrowse link X 78,042,859 78,056,347 RGD:8554872
G P2ry10 P2Y receptor family member 10 JBrowse link X 78,158,729 78,210,413 RGD:8554872
G Pgk1 phosphoglycerate kinase 1 JBrowse link X 77,263,399 77,279,373 RGD:7240710
RGD:8554872
G Rtl3 retrotransposon Gag like 3 JBrowse link X 77,953,574 77,957,261 RGD:8554872
Premature Ovarian Failure 2a term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph2 diaphanous-related formin 2 JBrowse link X 99,722,910 100,363,228 RGD:7240710
Primary Ovarian Insufficiency, Fragile X-Associated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadac arylacetamide deacetylase JBrowse link 2 150,146,234 150,157,480 RGD:8554872
G Fmr1 fragile X mental retardation 1 JBrowse link X 154,684,924 154,722,369 RGD:12050152
Progressive Hearing Loss Stapes Fixation 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:11554173
RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:11554173
RGD:8554872
G Pou3f4 POU class 3 homeobox 4 JBrowse link X 82,143,789 82,145,066 RGD:7240710
RGD:8554872
Properdin Deficiency, Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfp complement factor properdin JBrowse link X 1,311,121 1,316,683 RGD:8554872
Properdin Deficiency, Type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfp complement factor properdin JBrowse link X 1,311,121 1,316,683 RGD:8554872
Properdin Deficiency, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfp complement factor properdin JBrowse link X 1,311,121 1,316,683 RGD:8554872
RGD:7240710
RGD:11554173
Proud Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
purine nucleoside phosphorylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnp purine nucleoside phosphorylase JBrowse link 15 27,875,883 27,883,566 RGD:7240710
RGD:8554872
pyruvate decarboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apip APAF1 interacting protein JBrowse link 3 92,969,128 92,998,104 RGD:8554872
G Dlat dihydrolipoamide S-acetyltransferase JBrowse link 8 55,062,549 55,087,832 RGD:8554872
RGD:13592920
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:8554872
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:731230
RGD:8554872
RGD:13207454
RGD:13207453
RGD:11554173
RGD:7240710
G Pdhb pyruvate dehydrogenase E1 beta subunit JBrowse link 15 18,540,826 18,546,855 RGD:1599115
RGD:8554872
RGD:11554173
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
RGD:13592920
G Pdp1 pyruvate dehyrogenase phosphatase catalytic subunit 1 JBrowse link 5 25,577,593 25,584,325 RGD:13592920
G Pih1d2 PIH1 domain containing 2 JBrowse link 8 55,050,284 55,060,289 RGD:8554872
G Slc16a2 solute carrier family 16 member 2 JBrowse link X 74,578,600 74,706,068 RGD:8554872
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:8554872
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdhb pyruvate dehydrogenase E1 beta subunit JBrowse link 15 18,540,826 18,546,855 RGD:7240710
RGD:8554872
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlat dihydrolipoamide S-acetyltransferase JBrowse link 8 55,062,549 55,087,832 RGD:7240710
RGD:8554872
G Pih1d2 PIH1 domain containing 2 JBrowse link 8 55,050,284 55,060,289 RGD:8554872
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
RGD:7240710
recombinase activating gene 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:8554872
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:7240710
RGD:8554872
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:8554872
Renpenning syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:7240710
RGD:8554872
RGD:11554173
reticular dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:7240710
RGD:8554872
RGD:11100026
Reticulate Pigmentary Disorder, with Systemic Manifestations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pola1 DNA polymerase alpha 1, catalytic subunit JBrowse link X 62,382,604 62,698,830 RGD:8554872
RGD:7240710
retinitis pigmentosa 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:11352374
RGD:11537386
G Rp2 RP2 activator of ARL3 GTPase JBrowse link X 2,066,298 2,116,661 RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:7240710
RGD:8554872
RGD:8553233
RGD:8553228
RGD:8553210
RGD:8553208
RGD:8553206
RGD:8553204
RGD:8553202
RGD:8553198
RGD:8553196
RGD:8553229
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11352374
Rett syndrome 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:5686812
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:11554173
RGD:11070543
RGD:8554872
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:11554173
G Foxg1 forkhead box G1 JBrowse link 6 69,971,227 69,974,037 RGD:13592920
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 JBrowse link 5 62,276,100 62,621,737 RGD:8554872
G Irak1 interleukin-1 receptor-associated kinase 1 JBrowse link X 156,716,469 156,726,367 RGD:8554872
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8662896
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:1601319
RGD:8554872
RGD:11554173
RGD:12790974
RGD:12743654
RGD:7240710
RGD:1601318
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 JBrowse link 3 164,665,462 164,711,936 RGD:11554173
G Rhobtb2 Rho-related BTB domain containing 2 JBrowse link 15 51,465,148 51,485,562 RGD:8554872
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 JBrowse link 2 196,495,867 196,527,412 RGD:9590158
Rett Syndrome, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
Rett Syndrome, Congenital Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxg1 forkhead box G1 JBrowse link 6 69,971,227 69,974,037 RGD:7240710
RGD:8554872
Rett Syndrome, Zappella Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
Roifman Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clasp1 cytoplasmic linker associated protein 1 JBrowse link 13 34,365,038 34,584,651 RGD:8554872
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srpx2 sushi-repeat-containing protein, X-linked 2 JBrowse link X 104,734,035 104,760,658 RGD:7240710
RGD:8554872
Selective Tooth Agenesis, X-Linked, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eda ectodysplasin-A JBrowse link X 69,730,123 70,222,693 RGD:7240710
RGD:8554872
severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 3 160,115,840 160,139,947 RGD:1300353
RGD:8554872
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:11554173
G Cd247 Cd247 molecule JBrowse link 13 83,996,045 84,071,408 RGD:8554872
G Cd3d CD3d molecule JBrowse link 8 49,282,502 49,287,095 RGD:1549420
RGD:8554872
RGD:11554173
G Cd3e CD3e molecule JBrowse link 8 49,297,604 49,309,370 RGD:8554872
RGD:11554173
G Cd3g CD3g molecule JBrowse link 8 49,274,553 49,280,943 RGD:8554872
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:1601049
RGD:8554872
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:2313831
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:1600060
G Il2rg interleukin 2 receptor subunit gamma JBrowse link X 71,165,378 71,169,078 RGD:1600009
RGD:8554872
G Il7r interleukin 7 receptor RGD:1600151
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
RGD:11554173
RGD:11531109
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Myoc myocilin JBrowse link 13 80,517,531 80,527,928 RGD:8554872
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link 11 89,293,547 89,510,948 RGD:1599202
RGD:8696027
G Ptprc protein tyrosine phosphatase, receptor type, C JBrowse link 13 55,061,561 55,174,150 RGD:1599983
G Rac2 Rac family small GTPase 2 JBrowse link 7 119,769,708 119,797,111 RGD:8554872
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:1599402
RGD:8554872
RGD:7204131
RGD:1599403
G Rag1em1Ang recombination activating gene 1; zinc finger nuclease induced mutant 1, Ignacio Anegon RGD:7204134
G Rag1em1Ztm recombination activating gene 1; zinc finger nuclease induced mutant 1, Zentrales Tierlaboratorium, Medizinische Hochschule Hannover RGD:7204131
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:1599402
RGD:8554872
G Rfx5 regulatory factor X5 JBrowse link 2 196,119,054 196,128,109 RGD:1599743
RGD:1599742
G Rfxank regulatory factor X-associated ankyrin-containing protein JBrowse link 16 21,029,449 21,037,080 RGD:1599746
G RGD1309730 similar to RIKEN cDNA B230118H07 JBrowse link 3 91,086,186 91,195,981 RGD:8554872
G Tapbp TAP binding protein JBrowse link 20 5,468,056 5,476,007 RGD:1599296
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11554173
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:1599880
RGD:8554872
RGD:11554173
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:7240710
RGD:8554872
severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:7240710
RGD:8554872
G Lig4 DNA ligase 4 JBrowse link 16 85,331,771 85,339,496 RGD:8554872
Severe Combined Immunodeficiency, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:8554872
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link 11 89,293,547 89,510,948 RGD:13592920
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:7240710
RGD:8554872
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:1600254
RGD:7240710
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd3d CD3d molecule JBrowse link 8 49,282,502 49,287,095 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:13592920
G Il7r interleukin 7 receptor RGD:7240710
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:13592920
G Ptprc protein tyrosine phosphatase, receptor type, C JBrowse link 13 55,061,561 55,174,150 RGD:7240710
RGD:8554872
Severe Congenital Neutropenia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:7240710
RGD:8554872
RGD:11554173
sideroblastic anemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11035244
RGD:11035243
RGD:11035241
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 RGD:8554872
Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc3 glypican 3 JBrowse link X 139,579,268 139,947,093 RGD:7240710
RGD:8554872
G Gpc4 glypican 4 JBrowse link X 139,354,325 139,464,876 RGD:11554173
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Retsat retinol saturase JBrowse link 4 100,465,365 100,474,128 RGD:11554173
Simpson-Golabi-Behmel syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:7240710
RGD:8554872
Spinal Muscular Atrophy, Distal, X-Linked 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:7240710
RGD:8554872
RGD:11340198
RGD:11252181
Spinocerebellar Ataxia, X-Linked 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP binding cassette subfamily B member 7 JBrowse link X 75,150,511 75,291,950 RGD:8554872
G Amer1 APC membrane recruitment protein 1 JBrowse link X 64,686,620 64,702,504 RGD:8554872
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 157,236,400 157,312,028 RGD:7240710
RGD:8554872
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:8554872
G Nhsl2 NHS-like 2 JBrowse link X 71,895,202 71,980,019 RGD:8554872
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:8554872
G Rtl9 retrotransposon Gag like 9 JBrowse link X 114,367,028 114,379,646 RGD:8554872
Spondyloepimetaphyseal Dysplasia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bgn biglycan JBrowse link X 157,319,042 157,331,204 RGD:8554872
RGD:7240710
spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Trappc2 trafficking protein particle complex 2 JBrowse link X 29,550,871 29,562,135 RGD:8554872
RGD:7240710
Stocco dos Santos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shroom4 shroom family member 4 JBrowse link X 16,723,360 16,929,829 RGD:7240710
RGD:8554872
subcortical band heterotopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:12904717
G Eml1 EMAP like 1 JBrowse link 6 132,367,342 132,450,488 RGD:8554872
RGD:7240710
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:8554872
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:12904718
RGD:12904762
RGD:12904725
Surfactant Metabolism Dysfunction, Pulmonary, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf2ra colony stimulating factor 2 receptor alpha subunit JBrowse link 14 1,462,292 1,467,264 RGD:7240710
RGD:8554872
syndromic X-linked intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:13592920
syndromic X-linked intellectual disability 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:13592920
RGD:8554872
syndromic X-linked intellectual disability 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nono non-POU domain containing, octamer-binding JBrowse link X 71,324,365 71,342,225 RGD:8554872
RGD:7240710
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 JBrowse link X 32,329,883 32,376,301 RGD:7240710
RGD:8554872
RGD:11554173
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:8554872
syndromic X-linked intellectual disability 94 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G