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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
46,XX sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XX SEX REVERSAL, SRY-POSITIVE OMIM
ClinVar
PMID:25741868 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome
ClinVar Annotator: match by term: ATR-X syndrome
ClinVar Annotator: match by OMIM:301040
ClinVar Annotator: match by null
DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human)
DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human)
DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human)
OMIM
ClinVar
PMID:1415255, PMID:3239563, PMID:3658675, PMID:6682021, PMID:7506096, PMID:7697714, PMID:7726225, PMID:8630485, PMID:8644709, PMID:8968741, PMID:9244431, PMID:9326931, PMID:9598720, PMID:10204841, PMID:10398237, PMID:10417298, PMID:10570185, PMID:10602370, PMID:10632111, PMID:10995512, PMID:11015451, PMID:11050622, PMID:12032728, PMID:12116232, PMID:12673795, PMID:12858175, PMID:15508018, PMID:15591283, PMID:16118346, PMID:16722615, PMID:16763962, PMID:16813605, PMID:16955409, PMID:17579672, PMID:18409179, PMID:18414213, PMID:19005673, PMID:20500465, PMID:21505078, PMID:21653732, PMID:22995991, PMID:23681356, PMID:24082139, PMID:24289169, PMID:24327140, PMID:24728327, PMID:24759409, PMID:24805811, PMID:25167861, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26467025, PMID:28293299, PMID:28371197, PMID:28371217, PMID:28492530, PMID:28492532, PMID:28708303, PMID:29304373, PMID:29602769, PMID:29910053, PMID:24289169, PMID:24327140, PMID:24805811 RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
amelogenesis imperfecta type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
ClinVar Annotator: match by OMIM:301200
OMIM
ClinVar
PMID:1483698, PMID:1916828, PMID:1967204, PMID:3169793, PMID:4623931, PMID:5225441, PMID:7599636, PMID:7782077, PMID:8406474, PMID:9188994, PMID:10669095, PMID:11201048, PMID:11839357, PMID:11922868, PMID:15111628, PMID:23251683 NCBI chr  X:26,439,197...26,450,495
Ensembl chr  X:26,439,197...26,450,495
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IE
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
ClinVar PMID:1483698, PMID:1916828, PMID:1967204, PMID:3169793, PMID:4623931, PMID:5225441, PMID:7599636, PMID:7782077, PMID:8406474, PMID:9188994, PMID:10669095, PMID:11201048, PMID:11839357, PMID:11922868, PMID:15111628, PMID:23251683 NCBI chr  X:26,314,561...26,845,242
Ensembl chr  X:26,315,878...26,376,467
JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: X-linked hereditary motor and sensory neuropathy
ClinVar Annotator: match by OMIM:302800
OMIM
ClinVar
PMID:427531, PMID:1211842, PMID:7477983, PMID:7580242, PMID:7946361, PMID:8004109, PMID:8162049, PMID:8266101, PMID:8698335, PMID:8733054, PMID:8737658, PMID:8757034, PMID:8800924, PMID:8816997, PMID:8829637, PMID:8889588, PMID:8990008, PMID:9018031, PMID:9099841, PMID:9187667, PMID:9272161, PMID:9328258, PMID:9354338, PMID:9361298, PMID:9364054, PMID:9401007, PMID:9452099, PMID:9592087, PMID:9600589, PMID:9633821, PMID:9854984, PMID:9856562, PMID:10071100, PMID:10093067, PMID:10102421, PMID:10207904, PMID:10220155, PMID:10487913, PMID:10521546, PMID:10586227, PMID:10586261, PMID:10586279, PMID:10639608, PMID:10732813, PMID:10737979, PMID:10848620, PMID:10873293, PMID:10931843, PMID:11140841, PMID:11271367, PMID:11325342, PMID:11393532, PMID:11404117, PMID:11437164, PMID:11438991, PMID:11562788, PMID:11571214, PMID:11718056, PMID:11723288, PMID:11734543, PMID:11835375, PMID:11891346, PMID:12111842, PMID:12207932, PMID:12297581, PMID:12402337, PMID:12460545, PMID:12477701, PMID:12497641, PMID:12499506, PMID:12542510, PMID:12707076, PMID:14663027, PMID:14706470, PMID:15006706, PMID:15241803, PMID:15470753, PMID:15719046, PMID:15852376, PMID:15947997, PMID:16079393, PMID:16301507, PMID:16442804, PMID:16476939, PMID:16688595, PMID:16922730, PMID:17100997, PMID:17353473, PMID:17620124, PMID:18254389, PMID:18379723, PMID:19062535, PMID:19259128, PMID:19335535, PMID:19369543, PMID:19448103, PMID:20128140, PMID:20435583, PMID:21149811, PMID:21254193, PMID:21291455, PMID:21504505, PMID:21692908, PMID:22159091, PMID:22243284, PMID:22464564, PMID:22771394, PMID:22820753, PMID:23209285, PMID:23773993, PMID:23806086, PMID:23827825, PMID:23871722, PMID:24078732, PMID:24088041, PMID:24327141, PMID:24444136, PMID:25025039, PMID:25429913, PMID:25741868, PMID:25802885, PMID:25947624, PMID:26257172, PMID:26392352, PMID:26454100, PMID:26467025, PMID:26955336, PMID:27025386, PMID:27027447, PMID:27098783, PMID:27234031, PMID:27544631, PMID:27804109, PMID:27844031, PMID:27862672, PMID:28071741, PMID:28097225, PMID:28283593, PMID:28448691, PMID:28469099, PMID:28492532, PMID:28768847 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, X-linked dominant, 6 OMIM
ClinVar
PMID:23297365, PMID:25741868, PMID:26801680, PMID:28492532 NCBI chr  X:62,836,131...62,904,114
Ensembl chr  X:62,836,131...62,903,554
JBrowse link
CHILD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Child syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:308050
OMIM
ClinVar
CTD
PMID:10710235, PMID:11907515, PMID:12966526, PMID:18414213, PMID:25526675, PMID:28492532 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549, PMID:16015284, PMID:16813600, PMID:18414213, PMID:19241098, PMID:19564592, PMID:20397747, PMID:20479760, PMID:21160487, PMID:21775177, PMID:22867051, PMID:23064044, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,129,354...8,333,890
Ensembl chr 1:8,310,577...8,333,885
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549, PMID:16813600, PMID:18414213, PMID:19241098, PMID:20479760, PMID:21160487, PMID:21775177, PMID:22867051, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome
ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
ClinVar Annotator: match by OMIM:300243
OMIM
ClinVar
PMID:10528855, PMID:18342287, PMID:18414213, PMID:19471312, PMID:19619532, PMID:20395263, PMID:25044251, PMID:25167861, PMID:25741868, PMID:26467025, PMID:27256868, PMID:28492532, PMID:30311386, PMID:32581362, PMID:32860008 NCBI chr  X:158,979,081...159,045,019
Ensembl chr  X:158,978,755...159,045,044
JBrowse link
Coffin-Lowry syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:303600
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:5581017, PMID:8955270, PMID:9837815, PMID:9887375, PMID:10094187, PMID:10528858, PMID:11180593, PMID:11992250, PMID:12439904, PMID:12558110, PMID:14986828, PMID:15214012, PMID:16306095, PMID:16879200, PMID:17717706, PMID:19377476, PMID:19888300, PMID:21488662, PMID:25044551, PMID:25741868, PMID:28492532, PMID:31319225 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624
JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,610,230...15,616,727
Ensembl chr  X:15,598,652...15,617,665
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,318,215...15,322,601
Ensembl chr  X:15,419,028...15,423,414
Ensembl chr  X:15,419,028...15,423,414
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,225,645...15,240,458
Ensembl chr  X:15,225,645...15,240,329
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,523,929...15,553,702
Ensembl chr  X:15,523,929...15,553,720
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,506,724...15,520,712
Ensembl chr  X:15,506,724...15,520,712
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,471,212...15,504,372
Ensembl chr  X:15,471,211...15,504,165
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,324,263...15,327,705 JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,462,621...15,467,890
Ensembl chr  X:15,462,016...15,467,875
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,618,324...15,620,992
Ensembl chr  X:15,618,991...15,620,841
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by OMIM:300896
OMIM
ClinVar
PMID:23561849, PMID:24115232, PMID:25741868, PMID:26350515, PMID:26467025, PMID:28492532, PMID:28771251, PMID:29907092, PMID:30817854 NCBI chr  X:15,453,184...15,461,990
Ensembl chr  X:15,453,186...15,461,713
JBrowse link
G Suv39h1 suppressor of variegation 3-9 homolog 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:146,532,002...146,533,538 JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,574,579...15,587,826
Ensembl chr  X:15,575,934...15,587,419
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,441,369...15,448,452
Ensembl chr  X:15,441,651...15,448,403
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
Cornelia de Lange syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:19052029, PMID:23683030, PMID:28492532 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome
ClinVar Annotator: match by term: Cornelia de Lange syndrome 2
ClinVar
OMIM
PMID:7757074, PMID:16604071, PMID:17221863, PMID:17273969, PMID:18414213, PMID:18996922, PMID:19052029, PMID:19701948, PMID:19842212, PMID:20358602, PMID:20635401, PMID:22106055, PMID:22140011, PMID:23106691, PMID:23683030, PMID:24088041, PMID:24461912, PMID:24896178, PMID:25125236, PMID:25326635, PMID:25356970, PMID:25537356, PMID:25574841, PMID:25741868, PMID:26354354, PMID:26358754, PMID:26386245, PMID:26467025, PMID:26633545, PMID:26752331, PMID:27159028, PMID:27171548, PMID:27334371, PMID:28102598, PMID:28492532, PMID:28548707, PMID:30158690, PMID:30311386, PMID:32238909 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
Cornelia de Lange syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:72,624,660...72,654,258 JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:72,684,315...72,691,535
Ensembl chr  X:72,684,329...72,691,535
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5
DNA:snp:intron:c.164+5G>A (human)
DNA:missense mutations, deletions, duplication:multiple (human)
ClinVar
OMIM
PMID:15146185, PMID:15146186, PMID:17640042, PMID:18414213, PMID:19605684, PMID:19886810, PMID:22885700, PMID:22889856, PMID:24038889, PMID:24088041, PMID:24375697, PMID:24403048, PMID:24718998, PMID:25075551, PMID:25209348, PMID:25326635, PMID:25326637, PMID:25533962, PMID:25574841, PMID:25741868, PMID:26633545, PMID:26671848, PMID:26725122, PMID:27159028, PMID:28492532, PMID:30158690, PMID:30311386, PMID:22889856, PMID:24403048 RGD:13208817, RGD:11068490 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:73,997,274...73,999,677 JBrowse link
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:73,894,603...73,895,742 JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048, PMID:25741868 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
JBrowse link
craniofrontonasal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniofrontonasal dysplasia
ClinVar Annotator: match by OMIM:304110
OMIM
CTD
ClinVar
PMID:1468459, PMID:6627724, PMID:15124102, PMID:15166289, PMID:16639408, PMID:16685650, PMID:17941886, PMID:18043713, PMID:23335590, PMID:25741868, PMID:28492532, PMID:31837199 NCBI chr  X:68,891,227...68,904,034
Ensembl chr  X:68,891,227...68,904,038
JBrowse link
G Ophn1 oligophrenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:68,185,865...68,579,518
Ensembl chr  X:68,189,161...68,563,137
JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:69,213,645...69,218,601
Ensembl chr  X:69,213,645...69,218,556
JBrowse link
Danon disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,773,430...123,788,898
Ensembl chr  X:123,773,430...123,788,898
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,631,544...124,652,520
Ensembl chr  X:124,631,881...124,652,975
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO
IMP
ClinVar Annotator: match by term: Danon disease
ClinVar Annotator: match by term: Glycogen storage cardiomyopathy
ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb
in hemizygote mutant male (LAMP2y/-)
ClinVar Annotator: match by OMIM:300257
OMIM
ClinVar
PMID:3087571, PMID:6408499, PMID:6450334, PMID:7919972, PMID:8504498, PMID:10972294, PMID:12112061, PMID:14598234, PMID:15253947, PMID:15673802, PMID:15792868, PMID:15889279, PMID:15907287, PMID:16190986, PMID:16217705, PMID:16565504, PMID:17899313, PMID:18061453, PMID:18282207, PMID:18312451, PMID:18555174, PMID:18990578, PMID:19318653, PMID:19373884, PMID:19533775, PMID:20173215, PMID:20445193, PMID:20960602, PMID:21070164, PMID:21415759, PMID:21520333, PMID:21896538, PMID:22074992, PMID:22695892, PMID:23168931, PMID:23785128, PMID:24033266, PMID:24503780, PMID:25091525, PMID:25326635, PMID:25458169, PMID:25741868, PMID:25826782, PMID:26748608, PMID:27066507, PMID:27179547, PMID:27532257, PMID:27600940, PMID:27678261, PMID:28492532, PMID:28771489, PMID:29753918, PMID:29915097, PMID:29720683 RGD:13703117 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
G LOC100364002 reproductive homeobox 9-like ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,999,683...124,002,081
Ensembl chr  X:123,999,683...124,002,073
JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,803,109...123,806,760
Ensembl chr  X:124,513,269...124,516,705
Ensembl chr  X:124,513,269...124,516,705
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,751,196...123,770,595
Ensembl chr  X:123,751,089...123,770,595
JBrowse link
G Rhox10 reproductive homeobox 10 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,207,017...124,211,455
Ensembl chr  X:124,207,017...124,211,455
JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,806,922...123,808,049
Ensembl chr  X:124,516,949...124,518,077
JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,400,686...124,465,156
Ensembl chr  X:124,328,735...124,465,110
JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385
JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,319,299...124,326,506
Ensembl chr  X:124,321,551...124,323,960
JBrowse link
early infantile epileptic encephalopathy 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is
ClinVar Annotator: match by OMIM:300884
OMIM
ClinVar
PMID:22492991, PMID:23033978, PMID:23934111, PMID:24476948, PMID:24781210, PMID:24896178, PMID:25732998, PMID:25741868, PMID:26138355, PMID:26467025, PMID:26482601, PMID:28492532, PMID:28940310, PMID:32238909 NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 ClinVar PMID:28492532 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
Facial Ectodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by OMIM:227260 OMIM
ClinVar
PMID:8818454, PMID:14069095, PMID:20691403, PMID:21931173 NCBI chr 9:98,924,134...98,968,510
Ensembl chr 9:98,924,134...98,968,510
JBrowse link
female-restricted syndromic X-linked intellectual disability 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by OMIM:300968
ClinVar Annotator: match by term: Mental retardation, X-linked 99, syndromic, female-restricted
ClinVar
OMIM
PMID:25741868, PMID:26833328 NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297
JBrowse link
focal dermal hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Focal dermal hypoplasia
ClinVar Annotator: match by OMIM:305600
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17546030, PMID:17546031, PMID:18325042, PMID:19309688, PMID:19586929, PMID:19863546, PMID:25741868 NCBI chr  X:15,035,569...15,048,440
Ensembl chr  X:15,035,569...15,048,440
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
Focal Facial Dermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:256,369,410...256,380,649
Ensembl chr 1:256,370,850...256,378,335
JBrowse link
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO ClinVar Annotator: match by OMIM:614974 OMIM
ClinVar
PMID:16530710, PMID:23161670 NCBI chr 1:256,369,410...256,380,649
Ensembl chr 1:256,370,850...256,378,335
JBrowse link
fragile X syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgb androglobin ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:4,445,039...4,588,507
Ensembl chr 1:4,445,027...4,560,789
JBrowse link
G Aff2 AF4/FMR2 family, member 2 ISO ClinVar Annotator: match by term: FRAXE MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by OMIM:309548
OMIM
ClinVar
PMID:18414213, PMID:21739600, PMID:22773736, PMID:23562910, PMID:25741868, PMID:28492532 NCBI chr  X:153,539,951...154,051,022
Ensembl chr  X:153,539,668...154,051,181
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: therapeutic CTD PMID:22046307 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO RGD PMID:22900020 RGD:11558008 NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:24352881 RGD:10401097 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO
IMP
DNA:trinucleotide expansion
DNA:deletion:intron 7, exon 8:
ClinVar Annotator: match by term: Fragile X syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:300624
ClinVar
CTD
OMIM
PMID:7530551, PMID:7633450, PMID:7670500, PMID:8156595, PMID:8490650, PMID:9659908, PMID:15028757, PMID:15805463, PMID:16043816, PMID:16510718, PMID:17065172, PMID:18664458, PMID:18835858, PMID:20300527, PMID:21267007, PMID:22043169, PMID:28616095, PMID:1675488, PMID:27465362, PMID:28894415, PMID:24713347, PMID:12032354 RGD:1601178, RGD:38548926, RGD:38501107, RGD:11566052, RGD:11566028 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Fmr1em1Sage fragile X mental retardation 1;zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP DNA:deletion:intron 7, exon 8: RGD PMID:27465362 RGD:38548926
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO protein:increased expression:brain RGD PMID:25466251, PMID:26850918 RGD:13204755, RGD:11572344 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nrxn3 neurexin 3 ISO mRNA:decreased expression:hippocampus,somatosendory cortex RGD PMID:26235839 RGD:11554325 NCBI chr 6:112,133,204...114,069,589
Ensembl chr 6:112,133,204...114,067,564
JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210
JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: FRAXE MENTAL RETARDATION SYNDROME ClinVar PMID:1608473, PMID:1889260, PMID:2339709, PMID:2575668, PMID:2696185, PMID:2700304, PMID:2904702, PMID:2989709, PMID:3264419, PMID:3484754, PMID:3500183, PMID:3537008, PMID:3875547, PMID:6306478, PMID:7045697, PMID:7227484, PMID:8970361, PMID:9041988, PMID:9195389, PMID:9569237, PMID:12034572, PMID:14522813, PMID:15115878, PMID:15454649, PMID:15978931, PMID:17964515, PMID:18294358, PMID:18340647, PMID:18414213, PMID:18515255, PMID:18682522, PMID:19083091, PMID:19398551, PMID:19444872, PMID:19738092, PMID:20301692, PMID:20981092, PMID:21067581, PMID:21228398, PMID:21637600, PMID:21960536, PMID:22426792, PMID:22735536, PMID:22912729, PMID:22933512, PMID:22971141, PMID:22975760, PMID:23632999, PMID:23837941, PMID:23858502, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24328305, PMID:24428606, PMID:24518491, PMID:25181470, PMID:25741868, PMID:26243289, PMID:26304913, PMID:26310624, PMID:26672964, PMID:26831755, PMID:26987331, PMID:28492532 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 FMRP translational regulator 1 ISO human gene in a mouse model
CTD Direct Evidence: marker/mechanism
OMIM
CTD
PMID:27385396, PMID:15876460 RGD:12050151 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
linear skin defects with multiple congenital anomalies 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox7b cytochrome c oxidase subunit 7B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:77,065,427...77,071,676
Ensembl chr  X:77,065,397...77,071,676
JBrowse link
G Hccs holocytochrome c synthase ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
ClinVar Annotator: match by OMIM:309801
OMIM
ClinVar
PMID:16059943, PMID:17033964, PMID:25741868 NCBI chr  X:26,294,028...26,303,461
Ensembl chr  X:26,294,066...26,303,461
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
CTD
ClinVar
PMID:25741868, PMID:25772934 NCBI chr  X:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524
JBrowse link
linear skin defects with multiple congenital anomalies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 OMIM
ClinVar
PMID:9747372, PMID:23122588, PMID:25741868 NCBI chr  X:77,065,427...77,071,676
Ensembl chr  X:77,065,397...77,071,676
JBrowse link
linear skin defects with multiple congenital anomalies 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 OMIM
ClinVar
PMID:25741868, PMID:25772934 NCBI chr  X:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524
JBrowse link
Nance-Horan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO DNA:snp, insertion, nonsense mutations:multiple (human)
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar Annotator: match by OMIM:302350
ClinVar
OMIM
PMID:458526, PMID:2246772, PMID:14564667, PMID:15623749, PMID:16736028, PMID:17256798, PMID:18018428, PMID:18949062, PMID:20882036, PMID:23757202, PMID:24968223, PMID:25266737, PMID:25741868, PMID:27148795, PMID:27159028, PMID:28492532, PMID:16736028 RGD:1598795 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar NCBI chr  X:15,471,212...15,504,372
Ensembl chr  X:15,471,211...15,504,165
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar Annotator: match by term: Beta-Propeller protein-associated Neurodegeneration
ClinVar Annotator: match by OMIM:300894
OMIM
ClinVar
PMID:20562859, PMID:22892189, PMID:23176820, PMID:23435086, PMID:23687123, PMID:24368176, PMID:24621584, PMID:24847269, PMID:24896178, PMID:25263061, PMID:25326635, PMID:25356899, PMID:25592411, PMID:25741868, PMID:25741887, PMID:25744623, PMID:26173968, PMID:26467025, PMID:26609730, PMID:26633542, PMID:26790960, PMID:27030146, PMID:27159028, PMID:27652284, PMID:28191889, PMID:28492532, PMID:28554332, PMID:28711740, PMID:28932395, PMID:29082105, PMID:29171013, PMID:29981852, PMID:30311386, PMID:30612247, PMID:30713893 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
non-syndromic X-linked intellectual disability 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 1
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked mental retardation 18
ClinVar Annotator: match by OMIM:309530
OMIM
ClinVar
CTD
PMID:2673329, PMID:3177466, PMID:7943039, PMID:8236453, PMID:9628581, PMID:12210308, PMID:15197169, PMID:15669143, PMID:18414213, PMID:20473311, PMID:21686261, PMID:23020937, PMID:23674175, PMID:23934111, PMID:24306141, PMID:24759409, PMID:25741868, PMID:25914188, PMID:26467025, PMID:26539891, PMID:26544041, PMID:26633542, PMID:26733290, PMID:26793055, PMID:26795593, PMID:27009485, PMID:27369185, PMID:27652284, PMID:27665735, PMID:27864847, PMID:28220259, PMID:28295041, PMID:28492532, PMID:28815955, PMID:29322350, PMID:29720203, PMID:30206421, PMID:30311386 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Mental retardation, X-linked 1 ClinVar PMID:20400964, PMID:21990120, PMID:22006311, PMID:22538716, PMID:24139550, PMID:24315737, PMID:24549055, PMID:24800917, PMID:25452441, PMID:25741868, PMID:26261251, PMID:26681312, PMID:28123851, PMID:28152038, PMID:28492532, PMID:28905878, PMID:29053726, PMID:29255180 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 ClinVar PMID:28492532 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
non-syndromic X-linked intellectual disability 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1564541 similar to hypothetical protein FLJ22965 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 ClinVar
OMIM
PMID:29374277 NCBI chr  X:123,460,280...123,486,814
Ensembl chr  X:123,460,280...123,486,814
JBrowse link
non-syndromic X-linked intellectual disability 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 19
ClinVar Annotator: match by OMIM:300844
OMIM
ClinVar
PMID:10319851, PMID:11180593, PMID:17100996, PMID:19377476, PMID:25741868, PMID:28492532 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624
JBrowse link
non-syndromic X-linked intellectual disability 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: X-Linked Mental Retardation 41
ClinVar Annotator: match by OMIM:300849
OMIM
ClinVar
PMID:8826463, PMID:9106537, PMID:9620768, PMID:9668174, PMID:25741868 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404
JBrowse link
non-syndromic X-linked intellectual disability 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: Mental retardation 63, X-linked
ClinVar Annotator: match by OMIM:300387
OMIM
ClinVar
PMID:11889465, PMID:12525535, PMID:19166906, PMID:25741868 NCBI chr  X:113,596,247...113,660,024
Ensembl chr  X:113,596,239...113,659,944
JBrowse link
non-syndromic X-linked intellectual disability 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO OMIM NCBI chr  X:75,433,957...75,566,531
Ensembl chr  X:75,439,778...75,566,481
JBrowse link
non-syndromic X-linked intellectual disability 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: Mental retardation, X-linked 98
ClinVar Annotator: match by OMIM:300912
OMIM
ClinVar
PMID:15466006, PMID:19524067, PMID:22531377, PMID:23352160, PMID:23615299, PMID:24307393, PMID:25741868, PMID:25900396, PMID:26290131, PMID:26576034, PMID:27358180, PMID:27568816, PMID:28492532, PMID:32860008 NCBI chr  X:74,943,440...75,053,559
Ensembl chr  X:74,945,082...74,968,405
JBrowse link
nonphotosensitive trichothiodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive OMIM
ClinVar
PMID:25612912, PMID:25741868, PMID:29144457, PMID:31793730, PMID:31880405 NCBI chr  X:123,806,922...123,808,049
Ensembl chr  X:124,516,949...124,518,077
JBrowse link
orofaciodigital syndrome I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Orofaciodigital syndrome I
ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I
DNA:missense mutation:exon:243C>G (H81Q) (human)
DNA:frameshift mutations, missense mutation, nonsense mutation:multiple
DNA:deletion:exon:c.2183delG (human)
DNA:frameshift mutations, missense mutation, splice-site mutation:multiple
DNA:mutations:exon, intron:multiple
OMIM
ClinVar
PMID:9198060, PMID:9482645, PMID:11179005, PMID:11950863, PMID:16783569, PMID:18414213, PMID:18546297, PMID:22353940, PMID:24884629, PMID:25741868, PMID:26275793, PMID:26467025, PMID:28289185, PMID:28492532, PMID:28973083, PMID:18177199, PMID:16397067, PMID:21729220, PMID:11950863, PMID:23033313 RGD:11535968, RGD:11535966, RGD:11535960, RGD:11535958, RGD:11535957 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome I ClinVar PMID:25741868, PMID:26982032 NCBI chr14:107,268,235...107,308,546
Ensembl chr14:107,268,128...107,308,542
JBrowse link
otopalatodigital syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I
ClinVar Annotator: match by term: OPD I SYNDROME
DNA:missense mutation:cds:p.P207L (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:311300
OMIM
ClinVar
CTD
PMID:12612583, PMID:15194946, PMID:15917206, PMID:15940695, PMID:16596676, PMID:17264970, PMID:18414213, PMID:25741868, PMID:28492532, PMID:29300383, PMID:12612583 RGD:1598954 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
otopalatodigital syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
ClinVar Annotator: match by term: OPD II SYNDROME
DNA:missense mutation:cds:p.E254K (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:304120
OMIM
ClinVar
CTD
PMID:10982489, PMID:12410386, PMID:12612583, PMID:15194946, PMID:15378534, PMID:15917206, PMID:16299064, PMID:16417552, PMID:16822260, PMID:17264970, PMID:17431908, PMID:17632775, PMID:18414213, PMID:18805826, PMID:19773341, PMID:20598277, PMID:20844545, PMID:21520333, PMID:21836662, PMID:22522697, PMID:25167861, PMID:25649377, PMID:25741868, PMID:26404489, PMID:26467025, PMID:27193221, PMID:28133863, PMID:28454995, PMID:28492532, PMID:30311386, PMID:31064749, PMID:12612583 RGD:1598954 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
Primary Ovarian Insufficiency, Fragile X-Associated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadac arylacetamide deacetylase ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED ClinVar PMID:21681106, PMID:25666259 NCBI chr 2:150,146,234...150,157,480
Ensembl chr 2:150,146,234...150,157,480
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO RGD PMID:22470123 RGD:12050152 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
Raynaud-Claes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by OMIM:300114
ClinVar Annotator: match by term: Mental retardation 49, X-linked
ClinVar Annotator: match by term: CLCN4-related disorder
ClinVar
OMIM
PMID:8826458, PMID:9415477, PMID:23647072, PMID:25644381, PMID:25741868, PMID:25741869, PMID:26034137, PMID:27550844, PMID:28492532 NCBI chr  X:25,016,177...25,082,563
Ensembl chr  X:25,016,401...25,080,410
JBrowse link
reducing body myopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by OMIM:300717 OMIM
ClinVar
PMID:7722535, PMID:18274675, PMID:19171836, PMID:19181672 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300166
OMIM
ClinVar
CTD
PMID:10069716, PMID:12116202, PMID:14608648, PMID:15004558, PMID:15770227, PMID:16829040, PMID:17517692, PMID:18414213, PMID:19367324, PMID:19578371, PMID:21740180, PMID:22005280, PMID:22486321, PMID:22983184, PMID:23557072, PMID:23815237, PMID:24728327, PMID:25326637, PMID:25337074, PMID:25620158, PMID:25741868, PMID:26196063, PMID:26539891, PMID:26694549, PMID:28317252, PMID:28492532, PMID:29058245 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
X-linked Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: NEPHROPATHY AND DEAFNESS, X-LINKED ClinVar NCBI chr  X:112,328,907...112,403,157 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435, PMID:17396119, PMID:19129241, PMID:19675380, PMID:20029656, PMID:24033266, PMID:24130771, PMID:25514610, PMID:25575550, PMID:25741868, PMID:25755845, PMID:26467025, PMID:28492532, PMID:28780565 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar Annotator: match by term: NEPHROPATHY AND DEAFNESS, X-LINKED
ClinVar Annotator: match by OMIM:301050
OMIM
ClinVar
PMID:1330889, PMID:1352287, PMID:1363780, PMID:1376965, PMID:1577459, PMID:1598909, PMID:1672282, PMID:1783380, PMID:2349482, PMID:6650503, PMID:7599631, PMID:7695699, PMID:7969679, PMID:8081393, PMID:8218237, PMID:8406498, PMID:8433568, PMID:8455372, PMID:8648925, PMID:8651292, PMID:8651296, PMID:8807602, PMID:8825605, PMID:8940267, PMID:9150741, PMID:9195222, PMID:9848783, PMID:10094548, PMID:10561141, PMID:10563487, PMID:10684360, PMID:10752524, PMID:10862091, PMID:10955921, PMID:11004279, PMID:11223851, PMID:11462238, PMID:11572889, PMID:12105244, PMID:12436246, PMID:12796257, PMID:13582260, PMID:14514738, PMID:14604828, PMID:14856448, PMID:14993485, PMID:15149316, PMID:15780079, PMID:15954103, PMID:15957001, PMID:16517570, PMID:16941480, PMID:17277342, PMID:17396119, PMID:17660027, PMID:18083113, PMID:18332068, PMID:18343956, PMID:18350645, PMID:18584212, PMID:18616531, PMID:18846626, PMID:19065523, PMID:19281745, PMID:19344236, PMID:19444485, PMID:19693995, PMID:19728970, PMID:19919694, PMID:19937058, PMID:19965530, PMID:19965532, PMID:20130921, PMID:20378821, PMID:20881942, PMID:21143337, PMID:21332469, PMID:21380622, PMID:21505094, PMID:21848006, PMID:22518824, PMID:22921432, PMID:22995991, PMID:23572034, PMID:23720012, PMID:23732293, PMID:23967202, PMID:24033266, PMID:24033287, PMID:24088041, PMID:24304881, PMID:24337245, PMID:24470729, PMID:24522658, PMID:24759409, PMID:24854265, PMID:25307721, PMID:25525159, PMID:25575550, PMID:25739341, PMID:25741868, PMID:25788563, PMID:26063487, PMID:26168235, PMID:26467025, PMID:26581810, PMID:26613025, PMID:26633545, PMID:26809805, PMID:26866448, PMID:26934356, PMID:27281700, PMID:27353043, PMID:27627812, PMID:27725546, PMID:27725732, PMID:27859054, PMID:28013382, PMID:28492532, PMID:28570636, PMID:28827396, PMID:28844315, PMID:29144512, PMID:29198386, PMID:29526710, PMID:29854973, PMID:30311386, PMID:30577881, PMID:31144478 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: Alport Syndrome, X-Linked
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar Annotator: match by term: NEPHROPATHY AND DEAFNESS, X-LINKED
ClinVar PMID:9195222, PMID:11223851, PMID:18584212, PMID:19444485, PMID:21380622 NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
JBrowse link
X-linked chondrodysplasia punctata 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
ClinVar Annotator: match by term: Chondrodysplasia punctata 2, X-linked dominant, atypical
ClinVar Annotator: match by OMIM:302960
OMIM
ClinVar
PMID:1355069, PMID:7677157, PMID:10391218, PMID:10391219, PMID:10942423, PMID:12483303, PMID:12503102, PMID:15368506, PMID:18414213, PMID:20949533, PMID:22229330, PMID:25741868, PMID:28492532 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction:
ClinVar Annotator: match by OMIM:307800
OMIM
ClinVar
PMID:188828, PMID:3394683, PMID:7550339, PMID:9097956, PMID:9106524, PMID:9199930, PMID:9768646, PMID:9768674, PMID:10439971, PMID:10737991, PMID:11004247, PMID:11468271, PMID:11502821, PMID:11502829, PMID:12727977, PMID:14564066, PMID:14564077, PMID:16055933, PMID:16303832, PMID:16636593, PMID:18162710, PMID:18252791, PMID:18625346, PMID:19219621, PMID:21050253, PMID:21902834, PMID:21994957, PMID:22261628, PMID:22695891, PMID:23079138, PMID:23466123, PMID:24033266, PMID:24684036, PMID:24756041, PMID:24857004, PMID:24926462, PMID:25525159, PMID:25741868, PMID:25839938, PMID:26040324, PMID:26051471, PMID:26377240, PMID:26467025, PMID:27840894, PMID:28492532, PMID:28506344, PMID:29393334, PMID:29460029, PMID:29505567, PMID:29858904, PMID:30298486, PMID:30607568, PMID:30682568, PMID:30920082, PMID:22573557, PMID:9063736, PMID:9106524, PMID:7550339 RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            X-linked monogenic disease 920
              X-linked dominant disease 103
                46,XX sex reversal 1 1
                46,XX sex reversal 3 0
                CHILD syndrome 1
                Charcot-Marie-Tooth disease X-linked dominant 1 1
                Charcot-Marie-Tooth disease X-linked dominant 6 1
                Christianson syndrome 4
                Coffin-Lowry syndrome 1
                Cornelia de Lange syndrome 2 2
                Cornelia de Lange syndrome 5 6
                Danon disease 13
                Lisch epithelial corneal dystrophy 0
                Nance-Horan syndrome 1
                Raynaud-Claes syndrome 1
                X-linked Alport syndrome 4
                X-linked chondrodysplasia punctata 2 1
                X-linked dominant hypophosphatemic rickets 3
                X-linked endothelial corneal dystrophy 0
                alpha thalassemia-X-linked intellectual disability syndrome 2
                amelogenesis imperfecta type 1E 2
                chromosome Xp11.23-p11.22 duplication syndrome 0
                congenital disorder of glycosylation type IIm 18
                congenital nystagmus 5 0
                craniofrontonasal syndrome 4
                early infantile epileptic encephalopathy 36 2
                female-restricted syndromic X-linked intellectual disability 99 1
                focal dermal hypoplasia + 5
                fragile X syndrome + 15
                linear skin defects with multiple congenital anomalies 1 3
                linear skin defects with multiple congenital anomalies 2 1
                linear skin defects with multiple congenital anomalies 3 1
                neurodegeneration with brain iron accumulation 5 2
                non-syndromic X-linked intellectual disability 1 3
                non-syndromic X-linked intellectual disability 107 1
                non-syndromic X-linked intellectual disability 19 1
                non-syndromic X-linked intellectual disability 2 0
                non-syndromic X-linked intellectual disability 41 1
                non-syndromic X-linked intellectual disability 63 1
                non-syndromic X-linked intellectual disability 89 0
                non-syndromic X-linked intellectual disability 91 1
                non-syndromic X-linked intellectual disability 98 1
                nonphotosensitive trichothiodystrophy 5 1
                orofaciodigital syndrome I 2
                otopalatodigital syndrome type 1 2
                otopalatodigital syndrome type 2 1
                reducing body myopathy 1A 1
                syndromic microphthalmia 2 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.