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ONTOLOGY REPORT - ANNOTATIONS


Term:syndromic intellectual disability
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Accession:DOID:0050888 term browser browse the term
Definition:An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. (DO)
Synonyms:primary_id: RDO:9003344
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brpf1 bromodomain and PHD finger containing, 1 JBrowse link 4 145,264,445 145,280,943 RGD:13592920
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 JBrowse link 8 90,343,307 90,360,085 RGD:8554872
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:8554872
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:8554872
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:8554872
G Ophn1 oligophrenin 1 JBrowse link X 68,185,865 68,579,518 RGD:13592920
G Phip pleckstrin homology domain interacting protein JBrowse link 8 90,387,339 90,483,964 RGD:8554872
G Pth2r parathyroid hormone 2 receptor JBrowse link 9 72,052,966 72,158,343 RGD:8554872
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:8554872
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
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
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
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 Il1rapl1 interleukin 1 receptor accessory protein-like 1 JBrowse link X 55,439,388 57,004,865 RGD:8554872
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
autosomal dominant mental retardation 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 20 33,557,052 33,584,011 RGD:8554872
RGD:7240710
RGD:13592920
autosomal dominant mental retardation 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cltc clathrin heavy chain JBrowse link 10 74,014,560 74,070,578 RGD:8554872
RGD:7240710
RGD:13592920
G Mmp20 matrix metallopeptidase 20 JBrowse link 8 5,823,147 5,875,555 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
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
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, ARL3 GTPase activating protein 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
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
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
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
developmental delay and seizures with or without movement abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhdds dehydrodolichyl diphosphate synthase subunit JBrowse link 5 152,200,681 152,227,669 RGD:8554872
RGD:7240710
RGD:13592920
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
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 3 (NAD), gamma JBrowse link X 156,999,803 157,008,735 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase 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
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
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
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
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
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
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
RGD:11554173
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
G Zfp819 zinc finger protein 819 JBrowse link 1 99,521,177 99,539,232 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
RGD:11554173
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:11554173
RGD:7240710
RGD:8554872
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
RGD:11554173
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 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 52 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
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
RGD:11554173
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 methyltransferase homolog 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 92 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp819 zinc finger protein 819 JBrowse link 1 99,521,177 99,539,232 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
RGD:11554173
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
RGD:11554173
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
RGD:11554173
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, X-Linked, with Short Stature term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 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
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
neurodevelopmental disorder with midbrain and hindbrain malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 2 187,964,100 188,022,847 RGD:8554872
RGD:7240710
RGD:13592920
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 JBrowse link 5 62,276,100 62,621,737 RGD:8554872
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 methyltransferase homolog 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
G Zfp819 zinc finger protein 819 JBrowse link 1 99,521,177 99,539,232 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
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 CST complex subunit 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
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
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
RGD:11554173
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
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 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
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
RGD:11554173
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
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
RGD:11554173
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 Gria3 glutamate ionotropic receptor AMPA type subunit 3 JBrowse link X 127,561,843 127,829,763 RGD:7240710
RGD:8554872
syndromic X-linked intellectual disability Cabezas type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:7240710
RGD:8554872
syndromic X-linked intellectual disability Claes-Jensen type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm5c lysine demethylase 5C JBrowse link X 22,302,664 22,349,298 RGD:7240710
RGD:8554872
RGD:9587779
syndromic X-linked intellectual disability Hedera type 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:11565831
RGD:11565840
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:7240710
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:8554872
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:8554872
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 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
syndromic X-linked intellectual disability Lubs type 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:7240710
RGD:8554872
syndromic X-linked intellectual disability Najm type 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:7240710
RGD:8554872
syndromic X-linked intellectual disability Nascimento type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ube2a ubiquitin-conjugating enzyme E2A JBrowse link X 123,486,988 123,497,726 RGD:7240710
RGD:8554872
syndromic X-linked intellectual disability Raymond type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zdhhc9 zinc finger, DHHC-type containing 9 JBrowse link X 135,005,171 135,041,207 RGD:7240710
RGD:8554872
syndromic X-linked intellectual disability Shashi type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbmx RNA binding motif protein, X-linked JBrowse link X 159,881,835 159,891,405 RGD:7240710
RGD:8554872
syndromic X-linked intellectual disability Siderius type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phf8 PHD finger protein 8 JBrowse link X 21,063,487 21,168,750 RGD:7240710
RGD:8554872
syndromic X-linked intellectual disability Snyder type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sms spermine synthase JBrowse link X 40,363,646 40,415,110 RGD:8554872
RGD:7240710
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Huwe1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase JBrowse link X 21,474,627 21,603,348 RGD:7240710
RGD:8554872
syndromic X-linked intellectual disability type 10 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
RGD:8554872
RGD:11554173
syndromic X-linked mental retardation 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl10 ribosomal protein L10 JBrowse link X 156,438,251 156,440,461 RGD:8554872
RGD:7240710
RGD:13592920
syndromic X-linked mental retardation Hough type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 JBrowse link X 39,711,001 39,953,860 RGD:8554872
RGD:7240710
RGD:13592920
Wilson-Turner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
RGD:13208817
G Las1l LAS1-like, ribosome biogenesis factor JBrowse link X 65,081,591 65,102,344 RGD:8554872
RGD:7240710
RGD:11554173
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clic2 chloride intracellular channel 2 JBrowse link 20 295,338 310,363 RGD:7240710
RGD:8554872
X-linked intellectual disability-psychosis-macroorchidism syndrome 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:7240710
RGD:8554872
X-linked mental retardation 106 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase JBrowse link X 71,540,870 71,585,906 RGD:8554872
RGD:7240710
RGD:13592920
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ophn1 oligophrenin 1 JBrowse link X 68,185,865 68,579,518 RGD:7240710
RGD:8554872
RGD:13207450
RGD:13207446
RGD:13207445
RGD:13207444
RGD:13207443

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          syndromic intellectual disability 211
            Mental Retardation, X-Linked + 198
            NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 1
            autosomal dominant mental retardation 55 1
            autosomal dominant mental retardation 56 2
            developmental delay and seizures with or without movement abnormalities 1
            neurodevelopmental disorder with midbrain and hindbrain malformations 1
            syndromic X-linked intellectual disability + 45
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked + 198
                      NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 1
                      autosomal dominant mental retardation 55 1
                      autosomal dominant mental retardation 56 2
                      developmental delay and seizures with or without movement abnormalities 1
                      neurodevelopmental disorder with midbrain and hindbrain malformations 1
                      syndromic X-linked intellectual disability + 45
paths to the root