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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: XLMR hypotonic face syndrome
ClinVar Annotator: match by term: Alpha-thalassemia X-linked mental retardation 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:3239563 PMID:3658675 PMID:6682021 PMID:7506096 PMID:7697714 PMID:7726225 PMID:8630485 PMID:8644709 PMID:8968741 PMID:9244431 PMID:9326931 PMID:9536098 PMID:9598720 PMID:10204841 PMID:10398237 PMID:10417298 PMID:10632111 PMID:10995512 PMID:12116232 PMID:12673795 PMID:15591283 PMID:16763962 PMID:16813605 PMID:16955409 PMID:17576681 PMID:17579672 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21505078 PMID:22995991 PMID:23352163 PMID:23681356 PMID:24082139 PMID:24327140 PMID:24728327 PMID:24759409 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:28708303 PMID:29304373 PMID:29602769 PMID:29910053 PMID:31130284, 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 Charcot-Marie-Tooth disease type 1
ClinVar Annotator: match by term: Charcot-Marie-Tooth peroneal muscular atrophy, X-linked
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:23279342 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 PMID:29998508 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:9536098 PMID:17576681 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
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
ClinVar Annotator: match by OMIM:300863
OMIM
ClinVar
PMID:16001442 PMID:20181727 PMID:25741868 NCBI chr  X:15,396,185...15,417,486
Ensembl chr  X:15,295,473...15,316,671
Ensembl chr  X:15,295,473...15,316,671
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 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:28492532 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
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:9536098 PMID:10528855 PMID:17576681 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:25044251 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27256868 PMID:28492532 PMID:29275387 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:9536098 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:17576681 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 Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
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 Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
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 Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
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
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 Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,636,567...15,651,332
Ensembl chr  X:15,636,563...15,651,332
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:15,396,185...15,417,486
Ensembl chr  X:15,295,473...15,316,671
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 Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,669,191...15,676,051
Ensembl chr  X:15,669,191...15,676,050
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:16,121,332...16,121,411
Ensembl chr  X:16,121,322...16,121,413
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:16,109,870...16,109,948
Ensembl chr  X:16,109,870...16,109,948
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
Ensembl chr  X:15,425,078...15,428,518
Ensembl chr  X:15,425,078...15,428,518
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 Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,679,254...15,682,653
Ensembl chr  X:15,679,254...15,682,652
JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,774,091...15,784,711 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 Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,682,652...15,693,473
Ensembl chr  X:15,682,653...15,693,473
JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,098,880...15,102,344
Ensembl chr  X:15,098,904...15,102,340
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 Syp synaptophysin ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,064,733...15,088,579
Ensembl chr  X:15,064,594...15,088,589
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
Ensembl chr  X:15,441,651...15,448,403
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,987,964...15,991,149
Ensembl chr  X:15,988,604...15,990,484
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 Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,112,663...15,123,825
Ensembl chr  X:15,113,878...15,122,146
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:9536098 PMID:16604071 PMID:17221863 PMID:17273969 PMID:17576681 PMID:18414213 PMID:18996922 PMID:19052029 PMID:19701948 PMID:19842212 PMID:20358602 PMID:20635401 PMID:22106055 PMID:22140011 PMID:23551878 PMID:23683030 PMID:24088041 PMID:24124034 PMID:24461912 PMID:25125236 PMID:25326635 PMID:25356970 PMID:25574841 PMID:25741868 PMID:26354354 PMID:26358754 PMID:26386245 PMID:26467025 PMID:26633545 PMID:27159028 PMID:27171548 PMID:27334371 PMID:28425213 PMID:28492532 PMID:28548707 PMID:30158690 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:18414213 PMID:19605684 PMID:21320778 PMID:22885700 PMID:22889856 PMID:24088041 PMID:24375697 PMID:24403048 PMID:25075551 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25574841 PMID:25741868 PMID:26463496 PMID:26633545 PMID:26671848 PMID:26725122 PMID:27159028 PMID:28492532 PMID:30158690, 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 ClinVar Annotator: match by term: Craniofrontonasal syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniofrontonasal dysplasia
ClinVar Annotator: match by OMIM:304110
OMIM
ClinVar
CTD
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:9536098 PMID:10972294 PMID:12112061 PMID:14598234 PMID:15253947 PMID:15673802 PMID:15792868 PMID:15889279 PMID:15907287 PMID:16190986 PMID:16217705 PMID:16565504 PMID:17576681 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
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
Ensembl chr  X:124,321,551...124,323,960
JBrowse link
deafness, dystonia, and cerebral hypomyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcap31 B-cell receptor-associated protein 31 ISO OMIM NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
developmental and epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642
JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:38,294,009...38,353,525
Ensembl chr  X:38,295,365...38,353,461
JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,151,376...35,200,501 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 severity ISO ClinVar Annotator: match by OMIM:300672
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:
ClinVar
OMIM
PMID:9536098 PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17576681 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21482751 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22922712 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23828526 PMID:23934111 PMID:24500651 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25640679 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26467025 PMID:26482601 PMID:27081548 PMID:27187038 PMID:27391121 PMID:27848944 PMID:28492532 PMID:28837158 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29655203 PMID:30624022 PMID:30776697 PMID:31492455 PMID:31780880 PMID:31791873, PMID:22678952 RGD:12791015 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:37,579,959...37,595,300
Ensembl chr  X:37,579,957...37,595,486
JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:37,342,251...37,755,373 JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:38,400,578...38,467,825
Ensembl chr  X:38,397,261...38,468,360
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:35,970,650...36,926,616 JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:35,822,687...35,947,690
Ensembl chr  X:35,869,538...35,947,282
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589
JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar PMID:9536098 PMID:15499549 PMID:16813600 PMID:17576681 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25640679 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29655203 PMID:30624022 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,676,728...34,694,251 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,305,235...35,431,271
Ensembl chr  X:35,305,236...35,431,164
JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:37,790,004...38,196,365
Ensembl chr  X:37,790,586...38,196,204
JBrowse link
developmental and 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: CDG Is
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is
ClinVar Annotator: match by OMIM:300884
OMIM
ClinVar
PMID:9536098 PMID:17576681 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 PMID:32681751 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
developmental and epileptic encephalopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9
ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME
ClinVar Annotator: match by OMIM:300088
OMIM
ClinVar
PMID:2267240 PMID:5116697 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18234694 PMID:18414213 PMID:18469813 PMID:19214208 PMID:19377476 PMID:19752159 PMID:20713952 PMID:21053371 PMID:21480887 PMID:21519002 PMID:21777234 PMID:22050978 PMID:22267240 PMID:22504056 PMID:22848613 PMID:22946748 PMID:22949144 PMID:23066759 PMID:23334464 PMID:23708187 PMID:23712037 PMID:23808377 PMID:25227595 PMID:25326635 PMID:25499160 PMID:25741868 PMID:26467025 PMID:26704558 PMID:26765483 PMID:26954813 PMID:26993267 PMID:27143072 PMID:27179713 PMID:27527380 PMID:27787195 PMID:28492532 PMID:28669061 PMID:28837158 PMID:29056246 PMID:29358611 PMID:29377098 PMID:29655203 PMID:29933145 PMID:29933521 PMID:30287595 PMID:30451291 PMID:30530412 PMID:30828795 PMID:31302675 PMID:31319225 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:104,734,035...104,760,658
Ensembl chr  X:104,734,082...104,760,547
JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:104,684,676...104,700,173
Ensembl chr  X:104,684,676...104,700,173
JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:104,719,930...104,729,606
Ensembl chr  X:104,719,940...104,726,816
JBrowse link
Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 disease_progression ISO ClinVar Annotator: match by OMIM:300752
DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
OMIM
ClinVar
PMID:18760763 PMID:23263862, PMID:23263862, PMID:18760763 RGD:18337286, RGD:18337287 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
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 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:12068298 PMID:19533801 PMID:21188540 PMID:22508808 PMID:25403219 PMID:25741868 PMID:28492532 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
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 term: Focal facial dermal dysplasia 4
ClinVar Annotator: match by OMIM:614974
OMIM
ClinVar
PMID:16530710 PMID:23161670 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29263414 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
ClinVar Annotator: match by term: X-linked mental retardation and macroorchidism
ClinVar Annotator: match by term: Fragile X syndrome
compared to SD control;DNA:deletion:intron 7, exon 8:
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:25171808 PMID:25741868 PMID:28616095, PMID:1675488, PMID:30877790, PMID:27465362, PMID:28894415, PMID:24713347, PMID:12032354 RGD:1601178, RGD:38548928, 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 Fmr1em1Mzhe FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe IMP RGD PMID:28894415 RGD:38501107
G Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP DNA:deletion:intron 7, exon 8:
compared to SD control;DNA:deletion:intron 7, exon 8:
RGD PMID:27465362, PMID:30877790 RGD:38548926, RGD:38548928
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:9536098 PMID:17576681 PMID:22892189 PMID:23176820 PMID:23435086 PMID:23687123 PMID:24368176 PMID:24621584 PMID:24896178 PMID:25326635 PMID:25356899 PMID:25741868 PMID:25741887 PMID:25744623 PMID:26467025 PMID:26609730 PMID:26633542 PMID:26790960 PMID:27030146 PMID:27159028 PMID:27652284 PMID:28166811 PMID:28191889 PMID:28492532 PMID:28554332 PMID:28711740 PMID:28932395 PMID:29082105 PMID:29171013 PMID:29389947 PMID:29981852 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:9536098 PMID:9628581 PMID:12210308 PMID:15197169 PMID:15669143 PMID:17576681 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:29302074 PMID:29322350 PMID:29720203 PMID:30206421 PMID:30666632 PMID:31415821 PMID:33624935 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 Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 ClinVar
OMIM
PMID:25741868 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: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 ClinVar Annotator: match by term: Mental retardation 91, X-linked OMIM
ClinVar
PMID:15915161 PMID:25741868 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:23615299 PMID:24307393 PMID:25741868 PMID:25900396 PMID:26576034 PMID:26633542 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
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: Oto-palato-digital syndrome, type I
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: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 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: Premature ovarian failure 2a OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr  X:99,722,910...100,363,228 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 Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
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
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED ClinVar PMID:8094490 PMID:16187910 PMID:28492532 PMID:31042289 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
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:9536098 PMID:17576681 PMID:23647072 PMID:25644381 PMID:25741868 PMID:25741869 PMID:27550844 PMID:28492532 PMID:31780880 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 Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome ClinVar PMID:28492532 NCBI chr  X:11,137,889...11,164,854
Ensembl chr  X:11,136,939...11,164,915
JBrowse link
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:15004558 PMID:15770227 PMID:16829040 PMID:17517692 PMID:18414213 PMID:19367324 PMID:21740180 PMID:22983184 PMID:23815237 PMID:24728327 PMID:25326637 PMID:25620158 PMID:25741868 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: NEPHROPATHY AND DEAFNESS, X-LINKED
ClinVar Annotator: match by term: X-linked Alport syndrome
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:9536098 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:17576681 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:25183659 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:31138263 PMID:31144478 PMID:31576025 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 NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
JBrowse link
G Msr1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 PMID:25741868 PMID:28492532 NCBI chr16:56,817,714...56,900,025
Ensembl chr16:56,813,791...56,900,052
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:9536098 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:17576681 PMID:18162710 PMID:18252791 PMID:18625346 PMID:19219621 PMID:19513579 PMID:21050253 PMID:21902834 PMID:21994957 PMID:22261628 PMID:22527485 PMID:22695891 PMID:23079138 PMID:23466123 PMID:24033266 PMID:24102521 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:30298485 PMID:30298486 PMID:30607568 PMID:30682568 PMID:30920082 PMID:31102713, 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 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            X-linked monogenic disease 1012
              X-linked dominant disease 147
                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 5
                Coffin-Lowry syndrome 1
                Cornelia de Lange syndrome 2 2
                Cornelia de Lange syndrome 5 6
                Danon disease 13
                Erythropoietic Protoporphyria, X-Linked Dominant 1
                Lisch epithelial corneal dystrophy 0
                Nance-Horan syndrome 1
                Raynaud-Claes syndrome 1
                X-linked Alport syndrome 5
                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
                chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
                chromosome Xp11.23-p11.22 duplication syndrome 0
                congenital disorder of glycosylation type IIm 35
                congenital nystagmus 5 0
                craniofrontonasal syndrome 4
                deafness, dystonia, and cerebral hypomyelination 1
                developmental and epileptic encephalopathy 2 17
                developmental and epileptic encephalopathy 36 2
                developmental and epileptic encephalopathy 9 4
                female-restricted syndromic X-linked intellectual disability 99 1
                focal dermal hypoplasia + 6
                fragile X syndrome + 20
                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
                primary ovarian insufficiency 2A 1
                reducing body myopathy 1A 1
                syndromic microphthalmia 2 2
paths to the root