ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked recessive disease
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Accession:DOID:0080012 term browser browse the term
Definition:A X-linked monogenic disease that has_material_basis_in recessive inheritance. (DO)
Synonyms:exact_synonym: X-linked recessive inheritance
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked recessive disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emd emerin JBrowse link X 156,452,847 156,455,858 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
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
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
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
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
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
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
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
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
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 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
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
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
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
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 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 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 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
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
Wiskott-Aldrich 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:13592920
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:1599803
RGD:7240710
RGD:8554872
RGD:11554173
G Wipf1 WAS/WASL interacting protein family, member 1 JBrowse link 3 60,150,001 60,207,125 RGD:11554173
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wipf1 WAS/WASL interacting protein family, member 1 JBrowse link 3 60,150,001 60,207,125 RGD:7240710
RGD:8554872
X-linked adrenal hypoplasia congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Fthl17e ferritin, heavy polypeptide-like 17, member E JBrowse link X 53,628,946 53,629,936 RGD:8554872
G Gk glycerol kinase JBrowse link X 54,227,291 54,303,897 RGD:8554872
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 JBrowse link X 55,439,388 57,004,865 RGD:8554872
G Mageb1 melanoma antigen family B, 1 JBrowse link X 54,892,482 54,931,144 RGD:8554872
G Mageb2 MAGE family member B2 JBrowse link X 54,804,987 54,806,956 RGD:8554872
G Mageb3 MAGE family member B3 JBrowse link X 54,843,202 54,844,197 RGD:8554872
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 JBrowse link X 54,734,385 54,738,513 RGD:8554872
RGD:7240710
G RGD1565785 similar to chromosome X open reading frame 21 JBrowse link X 54,390,733 54,409,466 RGD:8554872
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 JBrowse link X 54,035,958 54,090,282 RGD:8554872
X-linked chondrodysplasia punctata 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arse arylsulfatase E JBrowse link 2 122,876,645 122,884,673 RGD:11554173
RGD:7240710
RGD:8554872
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:13592920
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:13592920
X-linked chronic granulomatous disease 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
RGD:11040567
RGD:11040562
RGD:11040560
X-linked cone-rod dystrophy 3 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:13782380
X-linked dyskeratosis congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:7240710
RGD:8554872
X-linked dystonia-parkinsonism 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:7240710
RGD:8554872
X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
RGD:7240710
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
X-linked Emery-Dreifuss muscular dystrophy 6 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
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
X-linked ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla4 patatin like phospholipase domain containing 4 JBrowse link X 45,519,406 45,522,988 RGD:8554872
G Pudp pseudouridine 5'-phosphatase JBrowse link 18 45,378,357 45,380,797 RGD:8554872
G Sts steroid sulfatase JBrowse link X 45,420,418 45,428,748 RGD:7240710
RGD:11554173
RGD:8554872
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 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
RGD:8554872
X-linked juvenile retinoschisis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:7240710
X-linked lymphoproliferative syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh2d1a SH2 domain containing 1A JBrowse link X 128,897,053 128,925,408 RGD:8554872
RGD:13592920
G Xiap X-linked inhibitor of apoptosis JBrowse link X 128,409,425 128,455,786 RGD:13592920
X-linked lymphoproliferative syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xiap X-linked inhibitor of apoptosis JBrowse link X 128,409,425 128,455,786 RGD:7240710
RGD:8554872
X-linked myopathy with excessive autophagy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vma21 vacuolar ATPase assembly factor VMA21 JBrowse link 16 70,142,561 70,151,833 RGD:8554872
RGD:7240710
X-linked recessive hypophosphatemic rickets 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:8554872
RGD:7240710
X-Linked Recessive Nephrolithiasis with Renal Failure 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
X-linked severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il2rg interleukin 2 receptor subunit gamma JBrowse link X 71,165,378 71,169,078 RGD:8554872
RGD:7240710
X-linked sideroblastic anemia with ataxia 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:1598600
RGD:8554872
RGD:11554173
RGD:11038735
RGD:11038734
RGD:7240710
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:8554872
X-linked spermatogenic failure 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tex11 testis expressed 11 JBrowse link X 70,670,212 70,946,621 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          monogenic disease 3222
            X-linked monogenic disease 838
              X-linked recessive disease 168
                Aarskog syndrome + 2
                Aland Island eye disease 1
                Allan-Herndon-Dudley syndrome 1
                Barth syndrome + 4
                Borjeson-Forssman-Lehmann syndrome 1
                Brooks-Wisniewski-Brown syndrome 0
                Brunner syndrome 1
                Bruton-type agammaglobulinemia 2
                CD40 ligand deficiency + 3
                Charcot-Marie-Tooth disease X-linked recessive 2 0
                Charcot-Marie-Tooth disease X-linked recessive 3 0
                Charcot-Marie-Tooth disease X-linked recessive 4 2
                Charcot-Marie-Tooth disease X-linked recessive 5 1
                Dent disease + 6
                Duchenne muscular dystrophy + 22
                FG syndrome 13
                IGSF1 deficiency syndrome 1
                Joubert syndrome 10 1
                Kennedy's disease 2
                Lesch-Nyhan syndrome + 2
                MASA syndrome 1
                MEHMO syndrome 1
                Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities 1
                Norrie disease 3
                Ogden syndrome 1
                Partington syndrome 1
                Pelizaeus-Merzbacher disease + 4
                Prieto syndrome 0
                Renpenning syndrome 1
                Simpson-Golabi-Behmel syndrome type 1 4
                Simpson-Golabi-Behmel syndrome type 2 1
                Wilson-Turner syndrome 2
                Wiskott-Aldrich syndrome + 3
                X-Linked Recessive Nephrolithiasis with Renal Failure 1
                X-linked Emery-Dreifuss muscular dystrophy 1 2
                X-linked Emery-Dreifuss muscular dystrophy 6 2
                X-linked adrenal hypoplasia congenita 10
                X-linked chondrodysplasia punctata 1 3
                X-linked chronic granulomatous disease 1
                X-linked cone-rod dystrophy 3 1
                X-linked dyskeratosis congenita + 3
                X-linked dystonia-parkinsonism 1
                X-linked ichthyosis + 3
                X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 1
                X-linked juvenile retinoschisis 1 1
                X-linked lymphoproliferative syndrome 1 2
                X-linked lymphoproliferative syndrome 2 1
                X-linked myopathy with excessive autophagy 1
                X-linked recessive hypophosphatemic rickets 1
                X-linked severe combined immunodeficiency 1
                X-linked sideroblastic anemia with ataxia 2
                X-linked spermatogenic failure 2 1
                adrenoleukodystrophy + 14
                blue cone monochromacy 1
                congenital stationary night blindness 1A 1
                congenital stationary night blindness 2A 1
                factor VIII deficiency + 23
                glycogen storage disease IXa 1
                glycogen storage disease IXd 1
                hemophilia B 2
                hereditary sensory neuropathy X-linked 0
                hereditary spastic paraplegia 16 0
                hereditary spastic paraplegia 2 2
                hereditary spastic paraplegia 34 0
                immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 1
                isolated growth hormone deficiency type III 1
                multiple congenital anomalies-hypotonia-seizures syndrome 2 1
                oculocerebrorenal syndrome + 7
                sideroblastic anemia 1 2
                spondyloepiphyseal dysplasia tarda + 2
                syndromic X-linked intellectual disability 17 0
                syndromic X-linked intellectual disability 5 2
                syndromic X-linked intellectual disability Claes-Jensen type 1
                syndromic X-linked intellectual disability Siderius type 1
                syndromic X-linked intellectual disability Snyder type 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.