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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 1 OMIM
ClinVar		 PMID:25741868 NCBI chr  Y:440,551...443,183 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 PMID:28492532 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | 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: X-linked alpha-thalassemia-mental retardation syndrome
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
RGD		 PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 PMID:7506096 More... RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:25741868 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		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 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth OMIM
ClinVar		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660 		JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:24,953,464...25,490,003
Ensembl chr  X:24,953,464...25,488,663 		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 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 ClinVar PMID:22522442 PMID:25741868 PMID:26752306 PMID:27083531 PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 | ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1 OMIM
ClinVar		 PMID:427531 PMID:1211842 PMID:7477983 PMID:7580242 PMID:7946361 More... NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 ClinVar PMID:25741868 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		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:28492532 NCBI chr  X:58,477,471...58,553,932
Ensembl chr  X:58,486,554...58,553,557 		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		 OMIM
ClinVar
CTD		 PMID:10710235 PMID:11907515 PMID:12966526 PMID:18414213 PMID:21290788 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		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: X-linked dominant chondrodysplasia, Chassaing-Lacombe type OMIM
ClinVar		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		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 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		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:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993 		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 More... NCBI chr  X:33,963,657...33,992,115
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18342287 PMID:18414213 More... NCBI chr  X:134,430,588...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		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 syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5581017 PMID:8955270 PMID:9536098 PMID:9837815 PMID:9887375 More... NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207 		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:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683 		JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG OMIM
ClinVar		 PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:26350515 More... NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,421,028...14,434,216
Ensembl chr  X:14,421,109...14,433,982 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:141,793,695...141,795,558 JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,123,642...15,126,855
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,362,479...14,373,727
Ensembl chr  X:14,362,860...14,373,727 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,776,280...14,782,197
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
Cornelia de Lange syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 ClinVar PMID:28492532 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 ClinVar PMID:19052029 PMID:23683030 PMID:28492532 NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584 		JBrowse link
G Ribc1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 ClinVar PMID:28492532 NCBI chr  X:21,091,717...21,103,688
Ensembl chr  X:21,091,717...21,103,200 		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 Annotator: match by term: SMC1A-related cohesinopathy OMIM
ClinVar		 PMID:9536098 PMID:11877377 PMID:16199547 PMID:16273072 PMID:16604071 More... NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056 		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:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571 		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:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182 		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)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19605684 More... RGD:13208817, RGD:11068490 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		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:68,174,051...68,176,449
Ensembl chr  X:68,173,987...68,176,666 		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:68,023,977...68,026,508 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:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		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:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Efnb1 ephrin B1 ISO ClinVar Annotator: match by term: Craniofrontonasal syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1468459 PMID:6627724 PMID:15124102 PMID:15166289 PMID:16639408 More... NCBI chr  X:64,257,351...64,270,158
Ensembl chr  X:64,257,351...64,270,157 		JBrowse link
G Ophn1 oligophrenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:63,599,746...63,976,678
Ensembl chr  X:63,603,042...63,976,633 		JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:64,580,938...64,585,864
Ensembl chr  X:64,580,849...64,585,833 		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:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697 		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:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020 		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 Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy
in hemizygote mutant male (LAMP2y/-)		 OMIM
ClinVar
RGD		 PMID:3087571 PMID:6408499 PMID:6450334 PMID:8504498 PMID:9536098 More... RGD:13703117 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945 		JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,911,157...116,917,938
Ensembl chr  X:116,911,329...116,917,644 		JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,428,037...116,429,164
Ensembl chr  X:116,427,684...116,433,762 		JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008 		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:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236 		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:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023 		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 ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome OMIM
ClinVar		 PMID:24011989 PMID:25741868 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ClinVar PMID:24011989 NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979 		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: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chr11:56,561,444...56,614,694
Ensembl chr11:56,560,974...56,614,694 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:33,365,748...33,389,773 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 severity ISO DNA:mutations:cds:
ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 | ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2		 ClinVar
OMIM
RGD		 PMID:9536098 PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 More... RGD:12791015 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:35,372,453...35,488,073
Ensembl chr  X:35,372,700...35,488,091 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:32,551,974...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466 		JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:9536098 PMID:15499549 PMID:16813600 PMID:17546640 PMID:17576681 More... NCBI chr  X:33,963,657...33,992,115
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:32,893,100...32,912,686
Ensembl chr  X:32,894,327...32,911,366 		JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 More... NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742 		JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760 		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: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 More... NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
developmental and epileptic encephalopathy 9 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: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chr  X:92,395,189...93,234,521
Ensembl chr  X:92,395,251...93,229,869 		JBrowse link
G Fam133a family with sequence similarity 133, member A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868
G Nap1l3 nucleosome assembly protein 1-like 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chr  X:88,347,595...88,350,393
Ensembl chr  X:88,347,598...88,350,393 		JBrowse link
G Pabpc5 poly A binding protein, cytoplasmic 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chr  X:85,637,763...85,641,235
Ensembl chr  X:85,638,574...85,639,722 		JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chr  X:86,058,348...86,751,078
Ensembl chr  X:86,058,394...86,747,036 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 | ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME OMIM
ClinVar		 PMID:5116697 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18234694 More... NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Tgif2lx2 TGFB-induced factor homeobox 2-like, X-linked 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chr  X:84,109,203...84,110,264
Ensembl chr  X:84,109,220...84,110,274 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:97,057,137...97,072,634
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:97,092,394...97,099,659
Ensembl chr  X:97,092,388...97,099,309 		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 DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant		 OMIM
ClinVar
RGD		 PMID:18760763 PMID:23263862 PMID:23409301 PMID:23263862 PMID:18760763 RGD:18337286, RGD:18337287 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519 		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 term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted OMIM
ClinVar		 PMID:25741868 PMID:26833328 PMID:28492532 PMID:34008892 NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17546030 PMID:17546031 PMID:18325042 PMID:19277062 PMID:19309688 More... NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:11457640 PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:28492532 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:12068298 PMID:16199547 PMID:19533801 PMID:21188540 PMID:22508808 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		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 1:4,753,621...4,896,268
Ensembl chr 1:4,753,621...4,896,190 		JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995 		JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: therapeutic CTD PMID:22046307 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO RGD PMID:22900020 RGD:11558008 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:24352881 RGD:10401097 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO
IMP		 DNA:trinucleotide expansion
ClinVar Annotator: match by term: Fragile X syndrome
compared to SD control;DNA:deletion:intron 7, exon 8:
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:7530551 PMID:7633450 PMID:7670500 PMID:8156595 PMID:8490650 More... RGD:1601178, RGD:38548928, RGD:38548926, RGD:38501107, RGD:11566052, RGD:11566028 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050 		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 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO protein:increased expression:brain RGD PMID:25466251 PMID:26850918 RGD:13204755, RGD:11572344 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nrxn3 neurexin 3 ISO mRNA:decreased expression:hippocampus,somatosendory cortex RGD PMID:26235839 RGD:11554325 NCBI chr 6:107,641,760...109,272,849
Ensembl chr 6:107,641,780...109,272,044 		JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934 		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 fragile X messenger ribonucleoprotein 1 ISO human gene in a mouse model
CTD Direct Evidence: marker/mechanism		 OMIM
CTD
RGD		 PMID:27385396 PMID:15876460 RGD:12050151 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		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:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Hccs holocytochrome c synthase ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 OMIM
ClinVar		 PMID:16059943 PMID:17033964 PMID:17893649 PMID:25741868 NCBI chr  X:24,932,943...24,942,376
Ensembl chr  X:24,933,002...24,942,366 		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:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		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:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		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 CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 OMIM
ClinVar		 PMID:25741868 PMID:25772934 PMID:26741492 PMID:27488349 PMID:28050600 More... NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		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
OMIM
RGD		 PMID:458526 PMID:2246772 PMID:14564667 PMID:15466011 PMID:15623749 More... RGD:1598795 NCBI chr  X:32,551,974...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		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 Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683 		JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,421,028...14,434,216
Ensembl chr  X:14,421,109...14,433,982 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:141,793,695...141,795,558 JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:15,123,642...15,126,855
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,362,479...14,373,727
Ensembl chr  X:14,362,860...14,373,727 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22892189 PMID:23176820 More... NCBI chr  X:14,776,280...14,782,197
Ensembl chr  X:14,776,293...14,782,202 		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 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:28492532 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9536098 More... NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584 		JBrowse link
G Ribc1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:28492532 NCBI chr  X:21,091,717...21,103,688
Ensembl chr  X:21,091,717...21,103,200 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 ClinVar PMID:19052029 PMID:23683030 PMID:28492532 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056 		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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 107 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 OMIM
ClinVar		 PMID:25741868 PMID:29374277 NCBI chr  X:116,087,626...116,114,159
Ensembl chr  X:116,060,929...116,114,159 		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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 OMIM
ClinVar		 PMID:10319851 PMID:11180593 PMID:17100996 PMID:19377476 PMID:25741868 More... NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207 		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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 OMIM
ClinVar		 PMID:8826463 PMID:9106537 PMID:9620768 PMID:9668174 PMID:25559331 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272 		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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 68 OMIM
ClinVar		 PMID:11889465 PMID:12525535 PMID:25741868 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
non-syndromic X-linked intellectual disability 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp819 zinc finger protein 819 ISO OMIM NCBI chr 1:94,027,347...94,085,649
Ensembl chr 1:94,035,679...94,048,760 		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: Intellectual disability, X-linked 91 OMIM
ClinVar		 PMID:15915161 PMID:25741868 NCBI chr  X:69,568,086...69,701,756
Ensembl chr  X:69,574,124...69,701,756 		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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 OMIM
ClinVar		 PMID:15466006 PMID:23615299 PMID:24307393 PMID:25741868 PMID:25900396 More... NCBI chr  X:69,088,076...69,219,253
Ensembl chr  X:69,088,076...69,112,930 		JBrowse link
nonphotosensitive trichothiodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive ClinVar PMID:25741868 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
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:116,428,037...116,429,164
Ensembl chr  X:116,427,684...116,433,762 		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: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome 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
RGD		 PMID:9198060 PMID:9482645 PMID:9536098 PMID:11179005 PMID:11950863 More... RGD:11535968, RGD:11535966, RGD:11535960, RGD:11535958, RGD:11535957 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome I ClinVar PMID:25741868 PMID:26982032 NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233 		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: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I
DNA:missense mutation:cds:p.P207L (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:6019437 PMID:10982489 PMID:11704759 PMID:11992261 PMID:12612583 More... RGD:1598954 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		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: Andre syndrome | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD 2 syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Oto-palato-digital syndrome type 2 | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
DNA:missense mutation:cds:p.E254K (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:12410386 More... RGD:1598954 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		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:92,395,189...93,234,521
Ensembl chr  X:92,395,251...93,229,869 		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 Fmr1 fragile X messenger ribonucleoprotein 1 ISO RGD PMID:22470123 RGD:12050152 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Primary ovarian insufficiency, fragile X-associated ClinVar PMID:25480036 PMID:25741868 PMID:31042289 NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600 		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 term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: MRX49 | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME OMIM
ClinVar		 PMID:8826458 PMID:9415477 PMID:9536098 PMID:17576681 PMID:23647072 More... NCBI chr  X:23,729,194...23,795,391
Ensembl chr  X:23,729,338...23,793,238 		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 term: Myopathy, reducing body, X-linked, early-onset, severe OMIM
ClinVar		 PMID:7722535 PMID:18274675 PMID:19171836 PMID:19181672 PMID:20633900 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		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:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918 		JBrowse link
G Bcor BCL6 co-repressor ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:15004558 PMID:15770227 PMID:16829040 PMID:17517692 PMID:18414213 More... RGD:1600504 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613 		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: X-linked Alport syndrome ClinVar NCBI chr  X:104,665,345...104,765,271
Ensembl chr  X:104,665,345...104,765,268 		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 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome OMIM
ClinVar		 PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 More... NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		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 More... NCBI chr16:52,717,775...52,802,890
Ensembl chr16:52,717,732...52,799,676 		JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315 		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 OMIM
ClinVar		 PMID:1355069 PMID:7677157 PMID:10391218 PMID:10391219 PMID:10942423 More... NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		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 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		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 chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction:		 OMIM
ClinVar
RGD		 PMID:188828 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 More... RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
X-linked intellectual developmental disorder 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109 OMIM
ClinVar		 PMID:18414213 PMID:21739600 PMID:22773736 PMID:23562910 PMID:25741868 More... NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995 		JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 ClinVar PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 More... NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          monogenic disease 8946
            X-linked monogenic disease 1204
              X-linked dominant disease 158
                46,XX sex reversal 1 1
                46,XX sex reversal 3 0
                CHILD syndrome 1
                Charcot-Marie-Tooth disease X-linked dominant 1 3
                Charcot-Marie-Tooth disease X-linked dominant 6 1
                Christianson syndrome 5
                Coffin-Lowry syndrome 1
                Cornelia de Lange syndrome 2 4
                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 7
                X-linked chondrodysplasia punctata 2 + 2
                X-linked dominant hypophosphatemic rickets 3
                X-linked endothelial corneal dystrophy 0
                alpha thalassemia-X-linked intellectual disability syndrome 3
                amelogenesis imperfecta type 1E 2
                chromosome Xp11.23-p11.22 duplication syndrome 0
                congenital disorder of glycosylation type IIm 36
                congenital nystagmus 5 0
                craniofrontonasal syndrome 4
                deafness, dystonia, and cerebral hypomyelination 2
                developmental and epileptic encephalopathy 2 19
                developmental and epileptic encephalopathy 36 2
                developmental and epileptic encephalopathy 9 10
                female-restricted syndromic X-linked intellectual disability 99 1
                focal dermal hypoplasia 4
                fragile X syndrome + 17
                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 36
                non-syndromic X-linked intellectual disability 1 4
                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 1
                non-syndromic X-linked intellectual disability 91 1
                non-syndromic X-linked intellectual disability 98 1
                nonphotosensitive trichothiodystrophy 5 2
                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