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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked dominant disease
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Accession:DOID:0080009 term browser browse the term
Definition:A X-linked monogenic disease that has_material_basis_in dominant inheritance. (DO)
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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
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
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
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
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
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
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
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
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
early infantile epileptic encephalopathy 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 115,561,329 115,589,792 RGD:7240710
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
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 FMRP translational regulator 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 FMRP translational regulator 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
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
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otud5 OTU deubiquitinase 5 JBrowse link X 15,471,212 15,504,372 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:7240710
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
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
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 FMRP translational regulator 1 JBrowse link X 154,684,924 154,722,369 RGD:12050152
X-linked Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atg4a autophagy related 4A, cysteine peptidase JBrowse link X 112,328,907 112,403,157 RGD:8554872
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:7240710
RGD:8554872
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:8554872
X-linked chondrodysplasia punctata 2 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:7240710
RGD:8554872
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:7207229
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:11560488
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:7240710
RGD:8554872
RGD:7207229
RGD:11556248
RGD:11556247
RGD:11556246
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8554872

Term paths to the root
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Term Annotations click to browse term
  disease 15578
    Developmental Diseases 8717
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7496
        genetic disease 6983
          monogenic disease 4543
            X-linked monogenic disease 845
              X-linked dominant disease 75
                Charcot-Marie-Tooth disease X-linked dominant 1 1
                Charcot-Marie-Tooth disease X-linked dominant 6 1
                Christianson syndrome 1
                Coffin-Lowry syndrome 1
                Cornelia de Lange syndrome 2 2
                Cornelia de Lange syndrome 5 5
                Danon disease 13
                Nance-Horan syndrome 1
                Ogden syndrome 1
                X-linked Alport syndrome 3
                X-linked chondrodysplasia punctata 2 1
                X-linked dominant hypophosphatemic rickets 4
                alpha thalassemia-X-linked intellectual disability syndrome 2
                amelogenesis imperfecta type 1E 2
                congenital disorder of glycosylation type IIm 18
                craniofrontonasal syndrome 1
                early infantile epileptic encephalopathy 36 1
                focal dermal hypoplasia + 3
                fragile X syndrome + 13
                neurodegeneration with brain iron accumulation 5 2
                orofaciodigital syndrome I 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.