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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 recessive disease
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Accession:DOID:0080012 term browser browse the term
Definition:A X-linked monogenic disease that has_material_basis_in recessive inheritance. (DO)
Synonyms:exact_synonym: X-linked recessive inheritance


show annotations for term's descendants           Sort by:
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 susceptibility ISO
ISS		 ClinVar Annotator: match by term: ABCD1-related condition | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy
OMIM:300100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 8:63,887,433...63,943,486
Ensembl chr 8:54,991,296...55,047,391 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,787,566...156,802,841
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,785,009...156,787,477
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,548,911...156,581,002
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr 9:2,073,927...2,076,469
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr10:64,144,560...64,145,723
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:154,630...169,655
Ensembl chr20:148,907...164,355 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:139,382...147,037
Ensembl chr18:125,227...132,160 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:148,567,674...148,568,972
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,751,651...157,757,796 JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,208,230...157,216,812
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,503,237...156,507,162
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857 		JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,977,859...155,979,373
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,317,993...157,326,640
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,246,533...157,253,650
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:142,829...155,123
Ensembl chr18:132,248...138,345 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:86,566,994...86,567,568
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,306,320...156,331,940
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,289,497...157,290,920
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:12,974,707...12,982,613
Ensembl chr 8:4,689,840...4,697,748 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:142,416...144,482 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,681,717...156,712,031
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:156,085,967...156,099,096
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,266,986...157,282,896
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,645,505...156,660,011
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,520,751...156,524,828
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,946,428...155,952,761
Ensembl chr  X:150,906,278...150,910,839 		JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,923,131...155,925,055
Ensembl chr  X:150,880,865...150,882,789 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,254,009...156,259,971
Ensembl chr  X:151,103,755...151,106,037 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,306,043...157,309,849
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,536,017...156,545,321
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,675,658...156,679,545
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,216,826...157,230,524
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:96,561...144,414
Ensembl chr20:91,272...140,386 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,303,203...156,304,811
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,302,528...157,305,380
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,874,138...155,919,921
Ensembl chr  X:150,831,862...150,874,810 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,268,220...156,293,790
Ensembl chr  X:151,117,102...151,143,177 		JBrowse link
Aland Island eye disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aland island eye disease ClinVar PMID:30718709 NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:201,428,672...201,433,172 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Aland island eye disease | ClinVar Annotator: match by term: Forsius Eriksson type ocular albinism
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:		 OMIM
ClinVar
CTD
RGD		 PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 More... RGD:13782379 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Aland island eye disease ClinVar PMID:3442652 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:76,828,301...76,912,223 		JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO
ISS		 ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy | ClinVar Annotator: match by term: SLC16A2-related condition
OMIM:300523
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 More... NCBI chr  X:72,791,096...72,914,299
Ensembl chr  X:68,723,261...68,848,771 		JBrowse link
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 | ClinVar Annotator: match by term: ELF4-related condition OMIM
ClinVar		 PMID:25741868 PMID:27932483 PMID:28492532 PMID:34326534 PMID:35266071 NCBI chr  X:132,465,290...132,508,175
Ensembl chr  X:127,590,650...127,630,200 		JBrowse link
autosomal hemophilia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:73,361,296...73,502,464
Ensembl chr  X:69,295,552...69,436,858 		JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:110,739,633...110,803,416
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457 		JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:11484689 PMID:16429404 PMID:16470589 PMID:16540754 PMID:16829353 More... NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,972,579...153,477,080
Ensembl chr  X:147,928,407...148,429,995 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,914,320...116,918,504
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:19,463,171...19,486,519 		JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,310,492...64,326,377
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,262,792...111,368,099
Ensembl chr  X:106,466,699...106,571,487 		JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:113,778,990...113,837,846
Ensembl chr  X:108,984,022...109,041,272 		JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,425,684...19,508,459
Ensembl chr  X:19,487,419...19,508,439 		JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,058,739...132,091,518
Ensembl chr  X:127,203,823...127,213,391 		JBrowse link
G Apool apolipoprotein O-like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:81,569,960...81,635,906
Ensembl chr  X:77,377,781...77,443,900 		JBrowse link
G Ar androgen receptor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Arhgap36 Rho GTPase activating protein 36 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:128,780,148...128,787,169
Ensembl chr  X:128,751,900...128,787,161 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,787,566...156,802,841
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
G Arl13a ARF like GTPase 13A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702 		JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,898,969...97,902,874
Ensembl chr  X:97,898,883...97,903,299 		JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,980,662...97,985,523
Ensembl chr  X:97,980,660...97,985,552 		JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,230,464...102,234,017
Ensembl chr  X:97,936,999...97,942,098 		JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912 		JBrowse link
G Armcx5 armadillo repeat containing, X-linked 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,501,552...103,505,978
Ensembl chr  X:98,709,841...98,714,674 		JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,929,032...97,932,031
Ensembl chr  X:97,929,041...97,931,977 		JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,739,959...69,752,300
Ensembl chr  X:65,698,699...65,712,153 		JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,328,325...60,478,031
Ensembl chr  X:60,328,328...60,415,619 		JBrowse link
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:109,453,712...109,553,758
Ensembl chr  X:104,665,345...104,765,268 		JBrowse link
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:143,600,763...143,788,407
Ensembl chr  X:138,565,836...138,751,204 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:121,952,923...121,974,146
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,785,009...156,787,477
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Awat1 acyl-CoA wax alcohol acyltransferase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,668,205...65,674,450
Ensembl chr  X:65,668,205...65,674,450 		JBrowse link
G Awat2 acyl-CoA wax alcohol acyltransferase 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,481,676...65,490,562
Ensembl chr  X:65,481,929...65,527,625 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,548,911...156,581,002
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,394,703...132,462,414
Ensembl chr  X:127,537,538...127,584,087 		JBrowse link
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,219,014...99,220,518
Ensembl chr  X:99,219,014...99,220,958 		JBrowse link
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,811,458...103,812,986
Ensembl chr  X:99,019,000...99,021,503 		JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,064,896...104,066,425
Ensembl chr  X:99,273,161...99,274,800 		JBrowse link
G Bex4 brain expressed, X-linked 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,923,609...103,925,041
Ensembl chr  X:99,131,942...99,133,531 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr 9:2,073,927...2,076,469
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:77,843,766...77,937,240
Ensembl chr  X:73,774,340...73,861,622 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:122,243,736...122,248,217
Ensembl chr  X:117,375,525...117,382,787 		JBrowse link
G Capn6 calpain 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:112,177,467...112,202,178
Ensembl chr  X:107,380,774...107,405,489 		JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr10:64,144,560...64,145,723
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835
G Cdx4 caudal type homeo box 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,392,653...72,401,239
Ensembl chr  X:68,326,874...68,335,461 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:101,809,192...101,860,935
Ensembl chr  X:97,515,972...97,567,657 		JBrowse link
G Cetn2 centrin 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,769,944...150,774,833
Ensembl chr  X:150,769,953...150,774,919 		JBrowse link
G Chic1 cysteine-rich hydrophobic domain 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,362,014...68,406,155
Ensembl chr  X:68,361,969...68,437,887 		JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:82,395,463...82,554,249
Ensembl chr  X:78,203,204...78,361,943 		JBrowse link
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921 		JBrowse link
G Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,390,328...71,395,023
Ensembl chr  X:67,350,373...67,355,162 		JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,248,383...108,258,847
Ensembl chr  X:103,459,780...103,474,838 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr20:154,630...169,655
Ensembl chr20:148,907...164,355 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr18:139,382...147,037
Ensembl chr18:125,227...132,160 		JBrowse link
G Cnga2 cyclic nucleotide gated channel subunit alpha 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:154,741,742...154,759,814
Ensembl chr  X:149,696,997...149,715,051 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:109,907,251...110,111,214
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: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:109,554,945...109,905,987
Ensembl chr  X:104,766,957...105,117,500 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:75,149,036...75,155,285
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Cpxcr1 CPX chromosome region, candidate 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:81,756,909...81,794,661 JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476 		JBrowse link
G Ct47b1 cancer/testis antigen family 47, member B1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,651,472...115,655,191
Ensembl chr  X:115,651,482...115,655,188 		JBrowse link
G Ct55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:133,502,545...133,515,730
Ensembl chr  X:133,502,869...133,515,529 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:148,567,674...148,568,972
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:122,154,332...122,192,299
Ensembl chr  X:117,287,484...117,326,688 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,884,293...70,886,944
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cxhxorf49 similar to human chromosome X open reading frame 49 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,911,430...66,915,407
Ensembl chr  X:66,911,431...66,915,293 		JBrowse link
G Cxhxorf66 similar to human chromosome X open reading frame 66 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:138,779,374...138,819,595
Ensembl chr  X:138,779,382...138,785,707 		JBrowse link
G Cylc1 cylicin 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:76,108,111...76,197,431
Ensembl chr  X:76,108,136...76,197,422 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:75,734,281...75,762,873
Ensembl chr  X:71,663,821...71,690,121 		JBrowse link
G Dach2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:78,718,963...79,018,023
Ensembl chr  X:78,451,593...79,017,592 		JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905 		JBrowse link
G Dcaf12l2 DDB1 and CUL4 associated factor 12-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:123,293,761...123,296,550
Ensembl chr  X:123,294,744...123,296,156 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,614,430...65,637,962
Ensembl chr  X:65,614,430...65,637,962 		JBrowse link
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:96,700,535...97,528,080
Ensembl chr  X:92,395,251...93,229,869 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,751,651...157,757,796 JBrowse link
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,899,694...69,951,928
Ensembl chr  X:65,860,172...65,910,322 		JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 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: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182 		JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,513,002...108,564,204
Ensembl chr  X:103,731,857...103,775,629 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,208,230...157,216,812
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:119,997,523...120,180,643
Ensembl chr  X:115,131,909...115,314,854 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,503,237...156,507,162
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,118,577...69,520,274
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:62,224,763...62,269,333
Ensembl chr  X:62,228,229...62,269,268 		JBrowse link
G Efnb1 ephrin B1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,297,529...68,310,335
Ensembl chr  X:64,257,351...64,270,157 		JBrowse link
G Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,465,290...132,508,175
Ensembl chr  X:127,590,650...127,630,200 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Enox2 ecto-NOX disulfide-thiol exchanger 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:133,148,813...133,470,914
Ensembl chr  X:128,271,074...128,593,039 		JBrowse link
G Eola2 endothelium and lymphocyte associated ASCH domain 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,064,015...149,068,627
Ensembl chr  X:149,064,041...149,068,627 		JBrowse link
G Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,285,380...71,301,186
Ensembl chr  X:67,245,414...67,280,756 		JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,449,298...100,454,452 JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar Annotator: match by term: Mild hemophilia A ClinVar PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857 		JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:18371163 PMID:22759210 PMID:22906111 PMID:29296726 More... NCBI chr  X:155,977,859...155,979,373
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More... NCBI chr  X:143,388,642...143,433,143
Ensembl chr  X:138,352,298...138,396,835 		JBrowse link
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,384,230...100,419,935
Ensembl chr  X:100,384,225...100,414,938 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,317,993...157,326,640
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,246,533...157,253,650
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Fgf13 fibroblast growth factor 13 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:142,312,381...142,838,581
Ensembl chr  X:137,276,511...137,800,391 		JBrowse link
G Fgf16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:74,882,863...74,893,598
Ensembl chr  X:70,817,433...70,878,717 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:139,592,794...139,652,290
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Fmr1nb FMR1 neighbor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:147,309,613...147,332,426
Ensembl chr  X:147,309,663...147,332,418 		JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,425,218...70,432,120
Ensembl chr  X:66,385,558...66,392,115 		JBrowse link
G Foxr2 forkhead box R2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:18,242,420...18,276,095
Ensembl chr  X:18,244,255...18,245,163 		JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771 		JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,964,168...104,113,864
Ensembl chr  X:104,043,194...104,111,968 		JBrowse link
G Ftx FTX transcript, XIST regulator ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,654,112...72,696,097 JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:2563431 PMID:31690835 NCBI chr18:142,829...155,123
Ensembl chr18:132,248...138,345 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:155,301,979...155,543,870
Ensembl chr  X:150,261,607...150,501,559 		JBrowse link
G Gabre gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,060,035...150,078,773
Ensembl chr  X:150,060,040...150,078,693 		JBrowse link
G Gabrq gamma-aminobutyric acid type A receptor subunit theta ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,696,161...150,712,948
Ensembl chr  X:150,696,427...150,709,919 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,826,273...65,835,361
Ensembl chr  X:65,826,574...65,835,361 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,541,845...70,549,776
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:136,789,770...137,157,598
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:136,565,536...136,676,142
Ensembl chr  X:131,644,704...131,755,284 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Gpr119 G protein-coupled receptor 119 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,852,145...127,858,198
Ensembl chr  X:127,852,145...127,858,198 		JBrowse link
G Gpr174 G protein-coupled receptor 174 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,355,452...72,396,146
Ensembl chr  X:72,355,033...72,397,658 		JBrowse link
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,368,900...149,373,486
Ensembl chr  X:149,368,900...149,373,486 		JBrowse link
G Gprasp1 G protein-coupled receptor associated sorting protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,556,493...103,564,275
Ensembl chr  X:98,709,841...98,772,851 		JBrowse link
G Gprasp2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,609,304...103,615,450
Ensembl chr  X:98,817,593...98,824,402 		JBrowse link
G Gprasp3 G protein-coupled receptor associated sorting protein family member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,639,366...103,644,561
Ensembl chr  X:98,817,593...98,854,545 		JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:125,103,975...125,369,690
Ensembl chr  X:120,238,534...120,504,096 		JBrowse link
G Gucy2f guanylate cyclase 2F ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:110,507,183...110,605,017
Ensembl chr  X:105,710,356...105,808,183 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:18371163 PMID:22759210 PMID:22906111 PMID:29296726 More... NCBI chr  X:86,566,994...86,567,568
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,306,320...156,331,940
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,425,240...71,632,865
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Hdx highly divergent homeobox ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:76,552,539...76,697,177
Ensembl chr  X:76,560,665...76,869,972 		JBrowse link
G Heph hephaestin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,160,628...65,412,457
Ensembl chr  X:61,296,345...61,402,980 		JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:154,341,106...154,346,087
Ensembl chr  X:149,296,375...149,301,292 		JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:74,085,871...74,094,488
Ensembl chr  X:74,085,875...74,094,441
Ensembl chr 1:74,085,875...74,094,441 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,074,175...102,080,115
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:137,655,744...137,687,718
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,887,224...136,182,388
Ensembl chr  X:130,968,385...131,261,492 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:139,972,742...139,986,923
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,453,190...115,682,325
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:154,070,781...154,093,681
Ensembl chr  X:149,025,976...149,046,663 		JBrowse link
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,622,925...69,645,167
Ensembl chr  X:65,582,821...65,606,049 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,213,670...120,294,777
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681 		JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,814,620...115,886,080
Ensembl chr  X:111,002,592...111,072,381 		JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,961,509...102,271,753
Ensembl chr  X:100,961,812...102,271,753 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,435,340...70,439,052
Ensembl chr  X:66,392,542...66,399,823 		JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,258,117...134,325,706
Ensembl chr  X:134,258,125...134,309,617 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:110,132,490...110,148,473 JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,612,118...70,617,158
Ensembl chr  X:66,572,537...66,577,174 		JBrowse link
G Itih6 inter-alpha-trypsin inhibitor heavy chain family member 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,753,322...19,790,381
Ensembl chr  X:19,753,625...19,789,500 		JBrowse link
G Itm2a integral membrane protein 2A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,486,383...72,492,344
Ensembl chr  X:72,486,381...72,492,363 		JBrowse link
G Jpx JPX transcript, XIST activator ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,511,491...68,665,132 JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:110,727,234...110,727,849
Ensembl chr  X:105,930,398...105,931,013 		JBrowse link
G Kiaa1210 KIAA1210 homolog ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,675,412...115,725,950
Ensembl chr  X:115,675,427...115,725,925 		JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,761,803...69,864,335
Ensembl chr  X:65,721,779...65,824,139 		JBrowse link
G Klf8 KLF transcription factor 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:17,950,045...18,132,980
Ensembl chr  X:17,958,843...18,133,182 		JBrowse link
G Klhl13 kelch-like family member 13 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:113,942,309...114,107,299
Ensembl chr  X:113,942,309...114,107,321 		JBrowse link
G Klhl4 kelch-like family member 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:83,626,047...83,916,328
Ensembl chr  X:79,622,113...79,719,480 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,289,497...157,290,920
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:122,038,734...122,087,745
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687 		JBrowse link
G Ldoc1 LDOC1, regulator of NFKB signaling ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:139,965,509...140,074,355
Ensembl chr  X:139,965,509...140,074,355 		JBrowse link
G Lhfpl1 LHFPL tetraspan subfamily member 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,815,596...108,873,460
Ensembl chr  X:108,815,596...108,873,460 		JBrowse link
G LOC100912195 protein BEX1-like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr 1:110,047,861...110,051,812 JBrowse link
G LOC120099525 small nucleolar RNA SNORA11 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,735,030...19,735,144
Ensembl chr  X:19,735,030...19,735,144 		JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,565,214...115,603,886
Ensembl chr  X:115,565,267...115,598,809 		JBrowse link
G Lpar4 lysophosphatidic acid receptor 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:76,106,319...76,119,807
Ensembl chr  X:72,033,486...72,046,977 		JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,903,760...115,986,569
Ensembl chr  X:111,092,814...111,174,210 		JBrowse link
G Luzp4 leucine zipper protein 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,280,490...111,321,363
Ensembl chr  X:111,280,549...111,321,359 		JBrowse link
G Magea10 MAGE family member A10 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:150,212,708...150,217,954
Ensembl chr  X:150,213,245...150,214,213 		JBrowse link
G Magea9 MAGE family member A9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:142,619,282...142,624,654
Ensembl chr  X:142,619,395...142,624,653 		JBrowse link
G Magec2 MAGE family member C2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:145,646,856...145,651,730
Ensembl chr  X:140,606,825...140,615,471 		JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,733,593...19,741,769
Ensembl chr  X:19,733,597...19,740,477 		JBrowse link
G Magee1 MAGE family member E1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,189,242...70,192,789
Ensembl chr  X:70,189,187...70,192,810 		JBrowse link
G Magee2 MAGE family member E2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,885,751...69,944,824
Ensembl chr  X:69,942,533...69,944,657 		JBrowse link
G Mageh1 MAGE family member H1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:18,350,015...18,351,271
Ensembl chr  X:18,349,774...18,351,516 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:75,104,040...75,145,247
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Mbnl3 muscleblind-like splicing regulator 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:130,641,942...130,737,179
Ensembl chr  X:130,648,538...130,737,056 		JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446 		JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:122,215,602...122,228,101
Ensembl chr  X:117,350,889...117,362,504 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:109,143,057...109,245,257
Ensembl chr  X:104,355,316...104,453,473 		JBrowse link
G Mir105 microRNA 105 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:155,480,841...155,480,913
Ensembl chr  X:150,438,529...150,438,601 		JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:137,343,570...137,343,647
Ensembl chr  X:132,422,584...132,422,661 		JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:137,343,058...137,343,153
Ensembl chr  X:132,422,072...132,422,167 		JBrowse link
G Mir223 microRNA 223 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,151,383...65,151,492
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mir224 microRNA 224 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:155,107,130...155,107,211
Ensembl chr  X:150,065,088...150,065,169 		JBrowse link
G Mir322 microRNA 322 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:137,726,147...137,726,241
Ensembl chr  X:132,806,594...132,806,688 		JBrowse link
G Mir448 microRNA 448 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:110,829,918...110,830,029
Ensembl chr  X:110,829,918...110,830,029 		JBrowse link
G Mir503 microRNA 503 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:137,725,856...137,725,926
Ensembl chr  X:132,806,303...132,806,373 		JBrowse link
G Mmgt1 membrane magnesium transporter 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:139,445,834...139,458,169
Ensembl chr  X:134,408,466...134,420,729 		JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,269,197...108,317,611
Ensembl chr  X:103,480,603...103,528,956 		JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,874,850...104,885,946
Ensembl chr  X:100,082,404...100,093,728 		JBrowse link
G Mospd1 motile sperm domain containing 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:133,100,200...133,127,960
Ensembl chr  X:133,100,422...133,127,908
Ensembl chr 1:133,100,422...133,127,908
Ensembl chr14:133,100,422...133,127,908 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:31690835
G Msn moesin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,005,546...65,073,512
Ensembl chr  X:60,995,951...61,065,628 		JBrowse link
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr18:142,416...144,482 JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr 6:6,234,917...6,252,874
Ensembl chr 6:488,969...506,860 		JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Nalf2 NALCN channel auxiliary factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,925,100...64,951,074
Ensembl chr  X:64,925,051...64,951,077 		JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,174,051...68,176,449
Ensembl chr  X:68,173,987...68,176,666 		JBrowse link
G Nap1l3 nucleosome assembly protein 1-like 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:88,347,595...88,350,393
Ensembl chr  X:88,347,598...88,350,393 		JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,088,076...69,219,253
Ensembl chr  X:69,088,076...69,112,930 		JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:66,969,953...67,209,464
Ensembl chr  X:66,970,151...67,200,911 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:121,238,714...121,258,360
Ensembl chr  X:116,372,839...116,394,945 		JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,992,038...121,010,251
Ensembl chr  X:116,128,798...116,144,628 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,469,251...70,497,380
Ensembl chr  X:66,429,458...66,451,876 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,594,116...70,611,976
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nrk Nik related kinase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,365,765...102,462,957
Ensembl chr  X:102,365,765...102,459,657 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Nup62cl nucleoporin 62 C-terminal like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,668,458...103,724,957
Ensembl chr  X:103,668,455...103,724,081 		JBrowse link
G Nxf2 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,135,953...98,157,117
Ensembl chr  X:98,135,950...98,157,089 		JBrowse link
G Nxf3 nuclear RNA export factor 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,025,901...99,050,409
Ensembl chr  X:99,025,901...99,039,261 		JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526 		JBrowse link
G Nxt2 nuclear transport factor 2-like export factor 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:110,652,434...110,659,738
Ensembl chr  X:105,855,608...105,862,899 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:131,955,775...132,018,298
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,811,317...70,856,123
Ensembl chr  X:66,771,349...66,816,146 		JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,639,956...68,018,217
Ensembl chr  X:63,603,042...63,976,633 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Otud6a OTU deubiquitinase 6A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,514,113...65,516,287
Ensembl chr  X:65,514,191...65,515,063 		JBrowse link
G P2ry10 P2Y receptor family member 10 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,121,558...72,207,174
Ensembl chr  X:72,111,264...72,212,265 		JBrowse link
G P2ry4 pyrimidinergic receptor P2Y4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,722,604...69,757,726
Ensembl chr  X:65,683,232...65,721,748 		JBrowse link
G Pabir2 PABIR family member 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,989,124...133,015,625
Ensembl chr  X:132,989,124...133,015,580 		JBrowse link
G Pabir3 PABIR family member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:133,020,162...133,083,801
Ensembl chr  X:133,020,190...133,083,805 		JBrowse link
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,023,845...68,026,508 JBrowse link
G Pabpc1l2b poly(A) binding protein cytoplasmic 1 like 2B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835
G Pabpc5 poly A binding protein, cytoplasmic 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:89,858,502...89,862,454
Ensembl chr  X:85,638,574...85,639,722 		JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,912,967...112,171,037
Ensembl chr  X:107,260,898...107,368,314 		JBrowse link
G Pasd1 PAS domain containing repressor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,617,933...149,639,214
Ensembl chr  X:149,620,972...149,638,675 		JBrowse link
G Pbdc1 polysaccharide biosynthesis domain containing 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,154,106...70,197,827
Ensembl chr  X:70,154,106...70,184,552 		JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:90,279,191...90,974,671
Ensembl chr  X:86,058,394...86,747,036 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Pdzd11 PDZ domain containing 11 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,758,765...69,761,811
Ensembl chr  X:65,704,067...65,721,642 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,681,717...156,712,031
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:22,936,038...22,989,691
Ensembl chr  X:19,508,546...19,562,182 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,698,610...120,706,805
Ensembl chr  X:115,832,884...115,888,682 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:137,576,214...137,619,297
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,639,701...71,778,465
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,272,034...71,278,676
Ensembl chr  X:67,232,081...67,238,702 		JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:64,580,938...64,585,846
Ensembl chr  X:64,580,849...64,585,833 		JBrowse link
G Plac1 placenta enriched 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,821,347...132,955,143
Ensembl chr  X:132,821,347...132,985,668 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,933,921...104,993,317
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,401,247...116,495,898
Ensembl chr  X:111,589,254...111,683,891 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,266,986...157,282,896
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,645,505...156,660,011
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,520,751...156,524,828
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:155,946,428...155,952,761
Ensembl chr  X:150,906,278...150,910,839 		JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:155,923,131...155,925,055
Ensembl chr  X:150,880,865...150,882,789 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,254,009...156,259,971
Ensembl chr  X:151,103,755...151,106,037 		JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:81,875,348...81,942,046
Ensembl chr  X:77,683,128...77,749,688 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:79,974,808...79,976,085
Ensembl chr  X:75,858,646...75,859,923 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:123,978,010...123,979,928
Ensembl chr  X:123,977,985...123,979,942 		JBrowse link
G Prrg3 proline rich and Gla domain 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,666,498...149,689,353
Ensembl chr  X:149,670,257...149,677,373 		JBrowse link
G Psmd10 proteasome 26S subunit, non-ATPase 10 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:109,445,291...109,453,605
Ensembl chr  X:104,656,812...104,665,097 		JBrowse link
G Pwwp3b PWWP domain containing 3B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,804,416...102,838,580
Ensembl chr  X:102,804,520...102,838,574 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,572,133...132,584,255
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:105,013,178...105,023,872
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Radx RPA1 related single stranded DNA binding protein, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,877,835...107,965,476
Ensembl chr  X:103,089,284...103,176,838 		JBrowse link
G Rap2c RAP2C, member of RAS oncogene family ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,388,881...135,401,998
Ensembl chr  X:130,504,698...130,518,328 		JBrowse link
G Rbm41 RNA binding motif protein 41 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,605,732...103,660,381
Ensembl chr  X:103,608,585...103,660,381 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:140,342,544...140,352,121
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Rbmx2 RNA binding motif protein, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,766,395...132,774,120
Ensembl chr  X:127,888,438...127,896,869 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644 		JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:121,373,153...121,379,870
Ensembl chr  X:116,507,488...116,513,870 		JBrowse link
G Ripply1 ripply transcriptional repressor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,436,731...103,440,904
Ensembl chr  X:103,436,729...103,443,349 		JBrowse link
G Rlim ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:73,048,983...73,070,302
Ensembl chr  X:68,988,375...69,004,271 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762 		JBrowse link
G Rnf128 ring finger protein 128 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,968,973...108,087,037
Ensembl chr  X:103,183,831...103,298,423 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr20:97,766,179...97,768,892 		JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:121,192,901...121,195,896
Ensembl chr18:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
Ensembl chr15:6,326,330...6,326,692
Ensembl chr20:6,326,330...6,326,692
Ensembl chr 7:6,326,330...6,326,692 		JBrowse link
G Rps4x ribosomal protein S4, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,298,522...67,302,965
Ensembl chr  X:67,298,525...67,303,019
Ensembl chr 4:67,298,525...67,303,019 		JBrowse link
G Rps6ka6 ribosomal protein S6 kinase A6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:80,537,723...80,638,910
Ensembl chr  X:76,353,760...76,454,484 		JBrowse link
G Rragb Ras-related GTP binding B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:21,560,313...21,610,550
Ensembl chr  X:18,184,992...18,234,639 		JBrowse link
G Rtl3 retrotransposon Gag like 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,947,343...71,951,008
Ensembl chr  X:71,948,253...71,950,121 		JBrowse link
G Rtl4 retrotransposon Gag like 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:113,027,697...113,438,382
Ensembl chr  X:108,633,651...108,640,050 		JBrowse link
G Rtl5 retrotransposon Gag like 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:67,183,948...67,188,747
Ensembl chr  X:67,184,154...67,188,809 		JBrowse link
G Rtl8a retrotransposon Gag like 8A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:133,414,027...133,415,240
Ensembl chr  X:133,414,030...133,415,240 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,470,972...111,517,356
Ensembl chr  X:106,714,868...106,719,794 		JBrowse link
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,204,717...132,219,421
Ensembl chr  X:127,326,859...127,341,519 		JBrowse link
G Satl1 spermidine/spermine N1-acetyl transferase-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:77,453,357...77,469,100
Ensembl chr  X:77,453,357...77,469,158 		JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,153,255...116,230,334
Ensembl chr  X:116,153,255...116,230,115 		JBrowse link
G Serpina7 serpin family A member 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:107,452,044...107,510,958
Ensembl chr  X:102,663,405...102,669,040 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:126,239,191...126,267,425 JBrowse link
G Sh3bgrl1 SH3 domain binding glutamate rich protein like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:78,242,704...78,343,633
Ensembl chr  X:74,166,871...74,263,783 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,306,043...157,309,849
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,791,096...72,914,299
Ensembl chr  X:68,723,261...68,848,771 		JBrowse link
G Slc25a14 solute carrier family 25 member 14 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,807,630...127,845,823
Ensembl chr  X:127,807,449...127,845,823 		JBrowse link
G Slc25a43 solute carrier family 25, member 43 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:115,977,437...116,011,789
Ensembl chr  X:115,977,510...116,011,205 		JBrowse link
G Slc25a5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,897,616...120,900,683
Ensembl chr  X:116,031,803...116,034,967 		JBrowse link
G Slc25a53 solute carrier family 25, member 53 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,306,917...100,319,662
Ensembl chr  X:100,306,915...100,319,863 		JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:117,109,063...117,169,522
Ensembl chr  X:112,314,691...112,375,096 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,536,017...156,545,321
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,250,089...70,256,610
Ensembl chr  X:66,210,081...66,215,708 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:139,468,045...139,524,111
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Slitrk2 SLIT and NTRK-like family, member 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:145,246,448...145,259,983
Ensembl chr  X:145,246,460...145,271,220 		JBrowse link
G Slitrk4 SLIT and NTRK-like family, member 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:147,728,163...147,755,086
Ensembl chr  X:142,706,338...142,718,575 		JBrowse link
G Smarca1 SNF2 related chromatin remodeling ATPase 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:126,980,201...127,066,385
Ensembl chr  X:126,994,947...127,066,347 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,267,013...70,396,948
Ensembl chr  X:66,227,053...66,356,950 		JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,292,030...116,293,660
Ensembl chr  X:116,292,030...116,293,660 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:144,344,892...144,346,971
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Spin2a spindlin family member 2A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:20,847,871...20,849,854
Ensembl chr  X:17,511,022...17,513,001 		JBrowse link
G Spin2b spindlin family member 2B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,923,341...19,925,119
Ensembl chr  X:17,180,474...17,192,351 		JBrowse link
G Spin4 spindlin family, member 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:63,898,338...63,902,427
Ensembl chr  X:59,891,581...59,892,330 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,675,658...156,679,545
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:125,839,660...125,971,209
Ensembl chr  X:120,974,857...121,105,677 		JBrowse link
G Stard8 StAR-related lipid transfer domain containing 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,119,276...68,236,247
Ensembl chr  X:64,124,574...64,196,052 		JBrowse link
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,953,335...120,979,861
Ensembl chr  X:116,060,929...116,114,159 		JBrowse link
G Stk26 serine/threonine kinase 26 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:135,195,176...135,259,994
Ensembl chr  X:130,310,885...130,374,291 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:101,428,785...101,479,207
Ensembl chr  X:97,135,500...97,185,854 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,680,901...70,756,535
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:101,953,508...101,968,336
Ensembl chr  X:97,660,222...97,675,023 		JBrowse link
G Taf9b TATA-box binding protein associated factor 9b ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:71,289,290...71,300,142
Ensembl chr  X:71,289,290...71,300,604 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,216,826...157,230,524
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133 		JBrowse link
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:76,796,398...76,847,447
Ensembl chr  X:72,723,617...72,774,647 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,850,775...104,852,724
Ensembl chr  X:100,058,132...100,060,551 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,802,966...104,804,926
Ensembl chr  X:100,010,690...100,012,654
Ensembl chr  X:100,010,690...100,012,654 		JBrowse link
G Tceal5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,204,422...99,207,373
Ensembl chr  X:99,204,429...99,207,353 		JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,228,405...99,230,551
Ensembl chr  X:99,228,458...99,230,543 		JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,171,307...99,173,377
Ensembl chr  X:99,171,177...99,173,710 		JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:99,245,645...99,247,720
Ensembl chr  X:99,228,458...99,247,763 		JBrowse link
G Tcp11x2 t-complex 11 family, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,591,191...98,640,800
Ensembl chr  X:98,591,189...98,640,763 		JBrowse link
G Tenm1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:126,265,968...127,155,737
Ensembl chr  X:121,403,649...122,290,207 		JBrowse link
G Tent5d terminal nucleotidyltransferase 5D ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,901,287...72,974,562
Ensembl chr  X:72,901,241...72,970,573 		JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,973,012...70,236,544
Ensembl chr  X:65,932,988...66,196,187 		JBrowse link
G Tex13a testis expressed 13A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:101,598,992...101,601,951
Ensembl chr  X:101,600,495...101,601,933 		JBrowse link
G Tex13b testis expressed 13B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,490,937...104,511,224
Ensembl chr  X:104,490,091...104,494,201 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tgif2lx2 TGFB-induced factor homeobox 2-like, X-linked 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:84,109,203...84,110,264
Ensembl chr  X:84,109,220...84,110,274 		JBrowse link
G Thoc2 THO complex subunit 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:125,500,549...125,615,139
Ensembl chr  X:120,634,968...120,749,513 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:102,011,206...102,015,444
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:111,084,830...111,245,419
Ensembl chr  X:106,289,371...106,448,640 		JBrowse link
G Tmem185a transmembrane protein 185A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:149,143,026...149,167,757
Ensembl chr  X:149,143,031...149,167,757 		JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr20:96,561...144,414
Ensembl chr20:91,272...140,386 		JBrowse link
G Tmsb15b2 thymosin beta 15B2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:100,298,705...100,300,820
Ensembl chr  X:100,298,514...100,300,886 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:101,350,432...101,365,929
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,303,203...156,304,811
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tro trophinin ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,563,395...19,574,507
Ensembl chr  X:19,563,517...19,572,953 		JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:112,742,828...113,027,638
Ensembl chr  X:107,939,131...108,230,991 		JBrowse link
G Trpc5os TRPC5 opposite strand ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:108,025,172...108,044,201
Ensembl chr  X:108,024,924...108,046,581 		JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:109,006,410...109,066,389
Ensembl chr  X:104,217,925...104,276,861 		JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:101,385,686...101,395,371
Ensembl chr  X:97,092,388...97,099,309 		JBrowse link
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,979,993...120,990,773
Ensembl chr  X:116,113,875...116,125,070 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:157,302,528...157,305,380
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:21,228,809...21,232,228
Ensembl chr  X:17,853,114...17,856,505 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236 		JBrowse link
G Uprt uracil phosphoribosyltransferase homolog ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:69,516,573...69,546,811
Ensembl chr  X:69,516,738...69,546,797 		JBrowse link
G Usp26 ubiquitin specific peptidase 26 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:136,237,504...136,284,646
Ensembl chr  X:131,319,194...131,363,970 		JBrowse link
G Usp51 ubiquitin specific peptidase 51 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:21,750,630...21,757,163
Ensembl chr  X:18,376,930...18,379,888 		JBrowse link
G Utp14a UTP14A small subunit processome component ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,317,163...132,342,524
Ensembl chr  X:127,439,268...127,464,633 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835
G Vcf2 VCP nuclear cofactor family member 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:19,310,182...19,393,156
Ensembl chr  X:19,349,560...19,378,486 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Vma21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:154,536,493...154,545,794
Ensembl chr  X:149,491,738...149,499,272 		JBrowse link
G Vsig1 V-set and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:104,607,031...104,640,128
Ensembl chr  X:104,607,031...104,639,249 		JBrowse link
G Vsig4 V-set and immunoglobulin domain containing 4 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:65,154,422...65,179,708
Ensembl chr  X:61,144,928...61,170,212 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:25741868 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Wdr44 WD repeat domain 44 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:119,286,802...119,392,240
Ensembl chr  X:114,482,006...114,587,224 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:125,756,107...125,803,979
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
G Xist X inactive specific transcript ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:72,540,753...72,558,266 JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,165,696...132,194,937
Ensembl chr  X:127,287,979...127,317,223 		JBrowse link
G Yipf6 Yip1 domain family, member 6 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,079,754...68,091,845
Ensembl chr  X:64,040,952...64,054,702 		JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023 		JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:120,299,138...120,302,465
Ensembl chr  X:115,433,259...115,436,692 		JBrowse link
G Zcchc13 zinc finger CCHC-type containing 13 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:68,643,568...68,644,671
Ensembl chr  X:68,643,549...68,665,131 		JBrowse link
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:73,633,977...73,767,451
Ensembl chr  X:69,574,124...69,701,756 		JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:132,230,243...132,266,139
Ensembl chr  X:127,352,345...127,388,245 		JBrowse link
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:155,874,138...155,919,921
Ensembl chr  X:150,831,862...150,874,810 		JBrowse link
G Zfp280c zinc finger protein 280C ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:127,716,403...127,807,600
Ensembl chr  X:127,717,983...127,779,825 		JBrowse link
G Zfp449 zinc finger protein 449 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,120,820...134,140,921
Ensembl chr  X:134,122,636...134,140,924 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:77,646,300...77,679,398
Ensembl chr  X:77,646,558...77,678,045 		JBrowse link
G Zfp75d zinc finger protein 75D ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:134,035,116...134,053,765
Ensembl chr  X:134,036,143...134,051,519 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:156,268,220...156,293,790
Ensembl chr  X:151,117,102...151,143,177 		JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:141,159,623...141,165,587
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
G Zmat1 zinc finger, matrin-type 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:98,168,388...98,199,415
Ensembl chr  X:98,168,456...98,199,733 		JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:70,568,573...70,584,221
Ensembl chr  X:66,528,585...66,544,782 		JBrowse link
G Zxda zinc finger, X-linked, duplicated A ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:63,770,485...63,775,624
Ensembl chr  X:59,763,210...59,765,903
Ensembl chr  X:59,763,210...59,765,903 		JBrowse link
G Zxdb zinc finger, X-linked, duplicated B ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:31690835 NCBI chr  X:63,710,381...63,716,353
Ensembl chr  X:59,701,178...59,703,871
Ensembl chr  X:59,701,178...59,703,871 		JBrowse link
Barth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,787,566...156,802,841
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,785,009...156,787,477
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,548,911...156,581,002
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr 9:2,073,927...2,076,469
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr10:64,144,560...64,145,723
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:154,630...169,655
Ensembl chr20:148,907...164,355 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:139,382...147,037
Ensembl chr18:125,227...132,160 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:148,567,674...148,568,972
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,751,651...157,757,796 JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria ClinVar PMID:1719174 PMID:9345098 PMID:9384614 PMID:9536098 PMID:10480214 More... NCBI chr  X:157,208,230...157,216,812
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,503,237...156,507,162
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857 		JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,977,859...155,979,373
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,317,993...157,326,640
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,246,533...157,253,650
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISS OMIM:302060 MouseDO NCBI chr 3:160,500,748...160,520,492
Ensembl chr 3:140,040,278...140,060,743 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:142,829...155,123
Ensembl chr18:132,248...138,345 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:86,566,994...86,567,568
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,306,320...156,331,940
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,289,497...157,290,920
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mest mesoderm specific transcript ISS OMIM:302060 MouseDO NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:142,416...144,482 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,681,717...156,712,031
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,266,986...157,282,896
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,645,505...156,660,011
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,520,751...156,524,828
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,946,428...155,952,761
Ensembl chr  X:150,906,278...150,910,839 		JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,923,131...155,925,055
Ensembl chr  X:150,880,865...150,882,789 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,254,009...156,259,971
Ensembl chr  X:151,103,755...151,106,037 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,306,043...157,309,849
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,536,017...156,545,321
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,675,658...156,679,545
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO
ISS		 ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II
OMIM:302060
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 More... NCBI chr  X:157,216,826...157,230,524
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:96,561...144,414
Ensembl chr20:91,272...140,386 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,303,203...156,304,811
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,302,528...157,305,380
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,874,138...155,919,921
Ensembl chr  X:150,831,862...150,874,810 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,268,220...156,293,790
Ensembl chr  X:151,117,102...151,143,177 		JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opn1mw opsin 1, medium wave sensitive ISO
ISS		 OMIM:303700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linked		 OMIM
MouseDO
CTD
ClinVar		 PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 More... NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf6 PHD finger protein 6 ISO
ISS		 ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders | ClinVar Annotator: match by term: PHF6-related condition
OMIM:301900
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15580208 More... NCBI chr  X:137,576,214...137,619,297
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
Brunner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maoa monoamine oxidase A ISO
ISS		 ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: MAOA-related condition
OMIM:300615
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8211186 PMID:9536098 PMID:11700166 PMID:16199547 PMID:17296899 More... NCBI chr  X:8,615,239...8,681,372
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Maob monoamine oxidase B ISO ClinVar Annotator: match by term: Brunner syndrome ClinVar PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 More... NCBI chr  X:8,490,405...8,594,065
Ensembl chr  X:5,907,266...6,011,003 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Brunner syndrome ClinVar PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 More... NCBI chr  X:8,379,569...8,404,019
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM ClinVar PMID:25741868 PMID:29884852 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)		 ClinVar
RGD
CTD
OMIM		 PMID:15611226 PMID:21841160 PMID:25741868 PMID:28492532 PMID:21841160 More... RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation ClinVar PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:132,572,133...132,584,255
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3278127 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 More... NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
CK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION OMIM
ClinVar		 PMID:18414213 PMID:19377476 PMID:21129721 PMID:21290788 PMID:25741868 More... NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20362274 PMID:20652413 PMID:22019070 More... NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:20362274 PMID:20652413 PMID:22019070 More... NCBI chr  X:132,572,133...132,584,255
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
congenital disorder of glycosylation Icc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC OMIM
ClinVar		 PMID:24550228 PMID:25135935 PMID:25741868 PMID:28492532 PMID:31036665 NCBI chr  X:75,104,040...75,145,247
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
congenital disorder of glycosylation Iy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation ClinVar NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation ClinVar NCBI chr  X:156,645,505...156,660,011
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation ClinVar NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation | ClinVar Annotator: match by term: SSR4-related condition OMIM
ClinVar		 PMID:24218363 PMID:25326635 PMID:25741868 PMID:26264460 PMID:28492532 NCBI chr  X:156,675,658...156,679,545
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
congenital disorder of glycosylation type IIr 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: CDG IIr | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29127204 NCBI chr  X:12,856,708...12,883,670
Ensembl chr  X:10,183,068...10,210,918 		JBrowse link
congenital nongoitrous hypothyroidism 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 OMIM
ClinVar		 PMID:25741868 PMID:30061370 NCBI chr  X:110,132,490...110,148,473 JBrowse link
congenital nonspherocytic hemolytic anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 9 | ClinVar Annotator: match by term: Adenosine deaminase, elevated, hemolytic anemia due to OMIM
ClinVar		 PMID:3164080 PMID:25741868 PMID:28492532 PMID:35030251 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
congenital stationary night blindness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nyx nyctalopin ISO
ISS		 OMIM:310500
ClinVar Annotator: match by term: Congenital stationary night blindness 1A | ClinVar Annotator: match by term: NYX-related condition		 OMIM
MouseDO
ClinVar		 PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 More... NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900 		JBrowse link
congenital stationary night blindness 2A 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
ISS		 ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2
OMIM:300071		 OMIM
ClinVar
MouseDO		 PMID:9529339 PMID:9662399 PMID:9662400 PMID:10900517 PMID:11281458 More... NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
Dent disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dent disease | ClinVar Annotator: match by term: Dent's disease
OMIM:300009 | OMIM:300555		 CTD
ClinVar
MouseDO		 PMID:10561751 PMID:11136179 PMID:15719255 PMID:15814539 PMID:15895257 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease ClinVar PMID:15108291 PMID:21031565 PMID:21971085 PMID:27398910 PMID:29300302 NCBI chr  X:131,955,775...132,018,298
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
Dent disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7874126 PMID:7915957 PMID:8559248 PMID:8950885 PMID:9062355 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Mir188 microRNA 188 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:17,919,585...17,919,664
Ensembl chr  X:15,247,715...15,247,794 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:17,930,647...17,930,726
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:17,919,185...17,919,263
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
Dent disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5b inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Dent disease type 2 ClinVar PMID:28018608 NCBI chr 5:142,281,454...142,345,993
Ensembl chr 5:136,996,686...137,061,315 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1321346 PMID:8504307 PMID:9536098 PMID:10923037 PMID:15627218 More... NCBI chr  X:131,955,775...132,018,298
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
developmental and epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,886,948...13,944,286
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:23953072 PMID:25741868 PMID:28492532 NCBI chr18:52,208,035...52,240,293
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695 		JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:35638461 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
CTD Direct Evidence: marker/mechanism
associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)		 OMIM
ClinVar
CTD
RGD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... RGD:11565846, RGD:11565838 NCBI chr  X:62,010,097...62,022,009
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
G Atmin ATM interactor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:61,905,343...61,922,443
Ensembl chr19:44,996,356...45,013,605 		JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,700,764...13,707,147
Ensembl chr10:13,196,204...13,201,500 		JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:62,058,061...62,094,923
Ensembl chr19:45,149,265...45,186,101 		JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,196,205...13,204,642
Ensembl chr10:12,691,610...12,700,049 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,003,276...14,004,809
Ensembl chr10:13,498,381...13,500,259 		JBrowse link
G C19h16orf46 similar to human chromosome 16 open reading frame 46 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,017,499...45,033,453
Ensembl chr19:45,022,280...45,032,683 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:32461667 PMID:32820246 PMID:32960281 More... NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,016,780...14,037,927
Ensembl chr10:13,513,465...13,533,377 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr10:13,757,884...13,783,669
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:37,566,320...37,796,766
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Cdyl2 chromodomain Y-like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:61,500,702...61,691,746
Ensembl chr19:44,597,459...44,783,022 		JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:61,880,101...61,902,850
Ensembl chr19:44,968,308...44,994,012 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:53,023,623...53,048,176
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 1:136,597,993...136,726,874
Ensembl chr 1:127,190,059...127,300,502 		JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,710,302...12,713,987
Ensembl chr10:12,709,960...12,715,973 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,218,728...13,220,159 JBrowse link
G Cmc2 C-x(9)-C motif containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:44,943,283...44,971,930
Ensembl chr19:44,943,285...44,971,983 		JBrowse link
G Cmip c-Maf-inducing protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:62,213,402...62,419,443
Ensembl chr19:45,304,031...45,508,709 		JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 7:112,863,726...112,887,338
Ensembl chr 7:110,983,318...111,006,794 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,976,012...13,978,574
Ensembl chr10:13,471,479...13,473,763 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:27066543 PMID:28667181 PMID:29397573 PMID:30097719 More... NCBI chr 3:36,002,535...36,055,220
Ensembl chr 3:15,604,784...15,648,538 		JBrowse link
G Dynlrb2 dynein light chain roadblock-type 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:61,428,782...61,440,331
Ensembl chr19:44,520,134...44,531,387 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,978,975...13,999,646
Ensembl chr10:13,474,456...13,485,974 		JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,961,250...13,974,595
Ensembl chr10:13,456,563...13,470,061 		JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,353,413...13,358,484
Ensembl chr10:12,848,827...12,853,635 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,413,661...14,420,489
Ensembl chr10:13,913,221...13,915,968 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,378,058...14,379,497
Ensembl chr10:13,873,527...13,875,012 		JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,279,232...13,298,955
Ensembl chr10:12,774,653...12,794,267 		JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,798,757...12,807,082
Ensembl chr10:12,798,762...12,806,439 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 1:117,602,772...117,838,230
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:62,116,600...62,173,879
Ensembl chr19:45,207,184...45,254,107 		JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:61,944,850...61,955,607
Ensembl chr19:45,036,011...45,046,792 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,223,023...14,225,736
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr19:11,040,788...11,198,437
Ensembl chr19:11,035,956...11,192,493 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,379,400...14,394,046
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,705,139...12,706,852
Ensembl chr10:12,705,077...12,706,850 		JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:49,495,771...49,899,774 		JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr13:92,609,791...92,618,580
Ensembl chr13:90,074,181...90,086,588 		JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,286,555...14,292,660
Ensembl chr10:13,781,993...13,788,133 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,397,076...14,408,439
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:26224535 PMID:28492532 NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 More... NCBI chr 2:197,392,746...197,406,606
Ensembl chr 2:194,704,639...194,718,400 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:188,572,345...188,631,391
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,583,781...13,609,762
Ensembl chr10:13,079,214...13,105,209 		JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,763,345...12,767,622
Ensembl chr10:12,763,397...12,767,854 		JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:9536098 PMID:17576681 PMID:24369382 PMID:24456803 PMID:25411445 More... NCBI chr19:60,259,200...60,622,145
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 PMID:36420423 NCBI chr12:26,530,886...26,543,841
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,336,869...14,369,566
Ensembl chr10:13,833,750...13,865,046 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,002,927...14,008,678
Ensembl chr10:13,498,388...13,504,128 		JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,164,974...13,180,503
Ensembl chr10:12,661,208...12,675,871 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,420,543...14,421,674
Ensembl chr10:13,916,026...13,918,406 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,269,414...14,275,140
Ensembl chr10:13,764,883...13,770,609 		JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:33189936 NCBI chr 3:156,585,394...156,632,418
Ensembl chr 3:136,133,428...136,179,345 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,253,805...14,255,966
Ensembl chr10:13,749,275...13,751,442 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,167,005...14,177,519
Ensembl chr10:13,662,461...13,673,049 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,226,473...14,230,541
Ensembl chr10:13,721,473...13,726,061 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,184,819...14,186,155
Ensembl chr10:13,680,321...13,681,586 		JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 1:213,155,673...213,271,526
Ensembl chr 1:203,735,753...203,842,297 		JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,160,334...14,166,502
Ensembl chr10:13,655,785...13,661,957 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001 		JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,407,743...14,411,428
Ensembl chr10:13,903,224...13,906,969 		JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:26626314 More... NCBI chr 6:137,918,040...137,977,767
Ensembl chr 6:132,096,901...132,154,583 		JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,758,970...12,762,649
Ensembl chr10:12,758,972...12,762,584 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1B, choline ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:58,378,090...58,471,623
Ensembl chr  X:58,378,116...58,468,935 		JBrowse link
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:62,480,535...62,547,371
Ensembl chr  X:58,486,554...58,553,557 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase-1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,610,000...13,687,226
Ensembl chr10:13,105,498...13,174,623 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,999,782...14,002,408
Ensembl chr10:13,494,291...13,497,858 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532 		JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,252,805...13,263,584
Ensembl chr10:12,748,237...12,758,995 		JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 3:142,512,765...143,224,042
Ensembl chr 3:122,060,031...122,772,869 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:62,456,196...62,592,684
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:62,028,475...62,342,455
Ensembl chr  X:58,034,619...58,348,536 		JBrowse link
G Prss21 serine protease 21 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,404,820...13,410,195
Ensembl chr10:12,900,535...12,905,618 		JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,533,725...13,538,435
Ensembl chr10:13,029,153...13,033,863 		JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,574,526...13,581,887
Ensembl chr10:13,069,959...13,077,322 		JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,363,528...13,365,868
Ensembl chr10:12,858,941...12,861,281 		JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,370,459...13,378,139
Ensembl chr10:12,865,872...12,873,552 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,057,942...14,062,602
Ensembl chr10:13,553,395...13,558,030 		JBrowse link
G Reps2 RALBP1 associated Eps domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:32,049,455...32,322,317
Ensembl chr  X:32,049,399...32,317,414 		JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,247,215...14,251,738
Ensembl chr10:13,742,682...13,745,000 		JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858 		JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,258,446...14,268,989
Ensembl chr10:13,753,886...13,764,457 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,251,841...14,253,697
Ensembl chr10:13,747,301...13,749,163 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:37,771,135...37,800,894
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:11940708 PMID:12083760 PMID:16458823 PMID:17347258 PMID:18804930 More... NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 3:76,504,868...76,599,536
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,411,692...14,417,357
Ensembl chr10:13,907,253...13,912,841 		JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751 		JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,215,088...14,219,844
Ensembl chr10:13,704,998...13,715,669 		JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25316601 PMID:25741868 PMID:27435091 PMID:28492532 NCBI chr11:43,678,709...43,755,526
Ensembl chr11:30,192,629...30,269,220 		JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,182,648...137,229,349
Ensembl chr 5:131,897,275...131,943,904 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms		 ClinVar PMID:1029242 PMID:3402014 PMID:9536098 PMID:10574461 PMID:10741954 More... NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,230,660...14,235,873
Ensembl chr10:13,726,129...13,731,372 		JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,750,586...13,755,775
Ensembl chr10:13,246,037...13,251,124 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925 		JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,211,670...13,213,666
Ensembl chr10:12,689,890...12,709,045 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,038,117...14,056,832
Ensembl chr10:13,533,570...13,552,203 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:53,004,590...53,023,640
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:9536098 PMID:11572989 PMID:11956080 PMID:16199547 PMID:17576681 More... NCBI chr19:59,338,402...60,269,323
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:14,198,763...14,210,773
Ensembl chr10:13,694,286...13,706,233 		JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,970,888...12,984,170
Ensembl chr10:12,979,020...12,983,572 		JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,636,302...12,646,275
Ensembl chr10:12,636,302...12,646,275 		JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:64,310,492...64,326,377
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: ARHGEF9-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 More... NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:60,328,325...60,478,031
Ensembl chr  X:60,328,328...60,415,619 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: TSR2-related condition ClinVar PMID:24033266 PMID:28492532 NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:20,023,746...20,066,566 		JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | ClinVar Annotator: match by term: TSR2-related condition OMIM
ClinVar		 PMID:11424144 PMID:24033266 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620 		JBrowse link
Duchenne muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap6 A-kinase anchoring protein 6 ISO mRNA:decreased expression:heart RGD PMID:14511675 RGD:14349026 NCBI chr 6:75,919,350...76,359,667
Ensembl chr 6:70,184,175...70,619,738 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd4 Cd4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:157,668,878...157,695,191 		JBrowse link
G Ctss cathepsin S ISS OMIM:310200 MouseDO NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Dag1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle
protein:decreased expression:skeletal muscle		 RGD PMID:15833425 PMID:7630355 PMID:11445638 RGD:11073211, RGD:11552581, RGD:11537476 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Dcaf8l1 DDB1 and CUL4 associated factor 8-like 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:22510846 PMID:23453023 PMID:24504883 PMID:28492532 NCBI chr  X:54,488,494...54,491,514
Ensembl chr  X:54,488,781...54,491,141 		JBrowse link
G Dmd dystrophin treatment ISO
ISS
IMP		 ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy
ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy
OMIM:310200
CTD Direct Evidence: marker/mechanism
mRNA:decreased stability:muscle		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301174 PMID:1301934 PMID:1307253 PMID:1363782 PMID:1383546 More... RGD:1580859, RGD:12880034, RGD:12880014, RGD:12880007, RGD:11040981, RGD:12879862, RGD:737706 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
G Fthl17a ferritin, heavy polypeptide-like 17, member A ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:53,547,274...53,548,251
Ensembl chr  X:49,595,718...49,596,266 		JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:54,106,708...54,189,940
Ensembl chr  X:50,163,123...50,238,631 		JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:55,322,779...56,827,486
Ensembl chr  X:51,378,215...52,876,772 		JBrowse link
G Itga7 integrin subunit alpha 7 treatment ISO RGD PMID:23319059 RGD:13601981 NCBI chr 7:1,944,447...1,973,347
Ensembl chr 7:1,359,940...1,388,450 		JBrowse link
G Mageb1 MAGE family member B1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:54,866,557...54,872,631 JBrowse link
G Mageb10 MAGE family member B10 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:22510846 PMID:23453023 PMID:24504883 PMID:28492532 NCBI chr 1:202,810,079...202,811,086
Ensembl chr 1:202,810,179...202,811,167 		JBrowse link
G Mageb2 MAGE family member B2 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:54,778,318...54,784,040
Ensembl chr  X:50,827,563...50,833,151 		JBrowse link
G Mageb3 MAGE family member B3 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:54,816,254...54,817,249
Ensembl chr  X:50,865,484...50,866,479 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:23977226 RGD:13204809 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:9542584 RGD:13825135 NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:54,707,658...54,711,786
Ensembl chr  X:50,756,886...50,761,011 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr11:98,165,974...98,231,916
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO RGD PMID:22934738 RGD:12910703 NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Postn periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 2:140,677,774...140,709,304
Ensembl chr 2:138,527,696...138,559,099 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
G Stx1b syntaxin 1B ISO RGD PMID:26604869 RGD:12903957 NCBI chr 1:191,846,016...191,864,878
Ensembl chr 1:182,415,546...182,441,280 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26604869 RGD:12903957 NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:53,923,473...53,995,777
Ensembl chr  X:49,972,330...50,042,056 		JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:54,354,755...54,373,930
Ensembl chr  X:50,361,248...50,423,269 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15616792 RGD:1580161 NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Utrn utrophin ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar
RGD		 PMID:25741868 PMID:9288751 RGD:737706 NCBI chr 1:8,541,061...9,044,487
Ensembl chr 1:6,722,594...7,224,313 		JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:69,118,577...69,520,274
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:62,224,763...62,269,333
Ensembl chr  X:62,228,229...62,269,268 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr12:47,802,002...47,819,503
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:		 OMIM
ClinVar
CTD
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2
DNA:missense mutation: :p.D122V (human)		 OMIM
ClinVar
RGD		 PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:31064749 More... RGD:11062141 NCBI chr 6:13,028,036...13,039,388
Ensembl chr 6:7,274,469...7,285,841 		JBrowse link
factor VIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:73,361,296...73,502,464
Ensembl chr  X:69,295,552...69,436,858 		JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:110,739,633...110,803,416
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457 		JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: HEMOPHILIA, CLASSIC ClinVar PMID:11484689 PMID:16429404 PMID:16470589 PMID:16540754 PMID:16829353 More... NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,972,579...153,477,080
Ensembl chr  X:147,928,407...148,429,995 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,914,320...116,918,504
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:19,463,171...19,486,519 		JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:64,310,492...64,326,377
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:111,262,792...111,368,099
Ensembl chr  X:106,466,699...106,571,487 		JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:113,778,990...113,837,846
Ensembl chr  X:108,984,022...109,041,272 		JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,425,684...19,508,459
Ensembl chr  X:19,487,419...19,508,439 		JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,058,739...132,091,518
Ensembl chr  X:127,203,823...127,213,391 		JBrowse link
G Apool apolipoprotein O-like ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:81,569,960...81,635,906
Ensembl chr  X:77,377,781...77,443,900 		JBrowse link
G Ar androgen receptor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Arhgap36 Rho GTPase activating protein 36 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:128,780,148...128,787,169
Ensembl chr  X:128,751,900...128,787,161 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,787,566...156,802,841
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
G Arl13a ARF like GTPase 13A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702 		JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,898,969...97,902,874
Ensembl chr  X:97,898,883...97,903,299 		JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,980,662...97,985,523
Ensembl chr  X:97,980,660...97,985,552 		JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:102,230,464...102,234,017
Ensembl chr  X:97,936,999...97,942,098 		JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912 		JBrowse link
G Armcx5 armadillo repeat containing, X-linked 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,501,552...103,505,978
Ensembl chr  X:98,709,841...98,714,674 		JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,929,032...97,932,031
Ensembl chr  X:97,929,041...97,931,977 		JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,739,959...69,752,300
Ensembl chr  X:65,698,699...65,712,153 		JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:60,328,325...60,478,031
Ensembl chr  X:60,328,328...60,415,619 		JBrowse link
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:109,453,712...109,553,758
Ensembl chr  X:104,665,345...104,765,268 		JBrowse link
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:143,600,763...143,788,407
Ensembl chr  X:138,565,836...138,751,204 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:121,952,923...121,974,146
Ensembl chr  X:117,057,423...117,108,020 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,785,009...156,787,477
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Awat1 acyl-CoA wax alcohol acyltransferase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,668,205...65,674,450
Ensembl chr  X:65,668,205...65,674,450 		JBrowse link
G Awat2 acyl-CoA wax alcohol acyltransferase 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,481,676...65,490,562
Ensembl chr  X:65,481,929...65,527,625 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,548,911...156,581,002
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,394,703...132,462,414
Ensembl chr  X:127,537,538...127,584,087 		JBrowse link
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,219,014...99,220,518
Ensembl chr  X:99,219,014...99,220,958 		JBrowse link
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,811,458...103,812,986
Ensembl chr  X:99,019,000...99,021,503 		JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,064,896...104,066,425
Ensembl chr  X:99,273,161...99,274,800 		JBrowse link
G Bex4 brain expressed, X-linked 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,923,609...103,925,041
Ensembl chr  X:99,131,942...99,133,531 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr 9:2,073,927...2,076,469
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:77,843,766...77,937,240
Ensembl chr  X:73,774,340...73,861,622 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:122,243,736...122,248,217
Ensembl chr  X:117,375,525...117,382,787 		JBrowse link
G C3 complement C3 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C5 complement C5 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 3:38,668,174...38,759,468
Ensembl chr 3:18,270,696...18,361,994 		JBrowse link
G Capn6 calpain 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:112,177,467...112,202,178
Ensembl chr  X:107,380,774...107,405,489 		JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr10:64,144,560...64,145,723
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Cd40lg CD40 ligand treatment ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar
RGD		 PMID:31690835 PMID:11776297 RGD:11352263 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835
G Cdx4 caudal type homeo box 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,392,653...72,401,239
Ensembl chr  X:68,326,874...68,335,461 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:101,809,192...101,860,935
Ensembl chr  X:97,515,972...97,567,657 		JBrowse link
G Cetn2 centrin 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,769,944...150,774,833
Ensembl chr  X:150,769,953...150,774,919 		JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:3,715,551...3,721,113
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G Chic1 cysteine-rich hydrophobic domain 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,362,014...68,406,155
Ensembl chr  X:68,361,969...68,437,887 		JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:82,395,463...82,554,249
Ensembl chr  X:78,203,204...78,361,943 		JBrowse link
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921 		JBrowse link
G Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,390,328...71,395,023
Ensembl chr  X:67,350,373...67,355,162 		JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:108,248,383...108,258,847
Ensembl chr  X:103,459,780...103,474,838 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr20:154,630...169,655
Ensembl chr20:148,907...164,355 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr18:139,382...147,037
Ensembl chr18:125,227...132,160 		JBrowse link
G Cnga2 cyclic nucleotide gated channel subunit alpha 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:154,741,742...154,759,814
Ensembl chr  X:149,696,997...149,715,051 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:109,907,251...110,111,214
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: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:109,554,945...109,905,987
Ensembl chr  X:104,766,957...105,117,500 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:75,149,036...75,155,285
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Cpxcr1 CPX chromosome region, candidate 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:81,756,909...81,794,661 JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476 		JBrowse link
G Ct47b1 cancer/testis antigen family 47, member B1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,651,472...115,655,191
Ensembl chr  X:115,651,482...115,655,188 		JBrowse link
G Ct55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:133,502,545...133,515,730
Ensembl chr  X:133,502,869...133,515,529 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:148,567,674...148,568,972
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:122,154,332...122,192,299
Ensembl chr  X:117,287,484...117,326,688 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,884,293...70,886,944
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cxhxorf49 similar to human chromosome X open reading frame 49 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,911,430...66,915,407
Ensembl chr  X:66,911,431...66,915,293 		JBrowse link
G Cxhxorf66 similar to human chromosome X open reading frame 66 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:138,779,374...138,819,595
Ensembl chr  X:138,779,382...138,785,707 		JBrowse link
G Cylc1 cylicin 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:76,108,111...76,197,431
Ensembl chr  X:76,108,136...76,197,422 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:75,734,281...75,762,873
Ensembl chr  X:71,663,821...71,690,121 		JBrowse link
G Dach2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:78,718,963...79,018,023
Ensembl chr  X:78,451,593...79,017,592 		JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905 		JBrowse link
G Dcaf12l2 DDB1 and CUL4 associated factor 12-like 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:123,293,761...123,296,550
Ensembl chr  X:123,294,744...123,296,156 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,614,430...65,637,962
Ensembl chr  X:65,614,430...65,637,962 		JBrowse link
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:96,700,535...97,528,080
Ensembl chr  X:92,395,251...93,229,869 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,751,651...157,757,796 JBrowse link
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,899,694...69,951,928
Ensembl chr  X:65,860,172...65,910,322 		JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 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: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182 		JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:108,513,002...108,564,204
Ensembl chr  X:103,731,857...103,775,629 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,208,230...157,216,812
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:119,997,523...120,180,643
Ensembl chr  X:115,131,909...115,314,854 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,503,237...156,507,162
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,118,577...69,520,274
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:62,224,763...62,269,333
Ensembl chr  X:62,228,229...62,269,268 		JBrowse link
G Efnb1 ephrin B1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,297,529...68,310,335
Ensembl chr  X:64,257,351...64,270,157 		JBrowse link
G Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,465,290...132,508,175
Ensembl chr  X:127,590,650...127,630,200 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Enox2 ecto-NOX disulfide-thiol exchanger 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:133,148,813...133,470,914
Ensembl chr  X:128,271,074...128,593,039 		JBrowse link
G Eola2 endothelium and lymphocyte associated ASCH domain 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,064,015...149,068,627
Ensembl chr  X:149,064,041...149,068,627 		JBrowse link
G Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,285,380...71,301,186
Ensembl chr  X:67,245,414...67,280,756 		JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,449,298...100,454,452 JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F8 coagulation factor VIII treatment ISO
ISS
IMP
IAGP		 ClinVar Annotator: match by term: F8-related condition | ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: HEMOPHILIA, CLASSIC | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital | ClinVar Annotator: match by term: Hemophilia, classic
OMIM:306700
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... RGD:1582357, RGD:150520060, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857 		JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage treatment IMP RGD PMID:24931420 PMID:31899798 RGD:11530071, RGD:150520060
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964
G F8em1Mcwi coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi treatment IMP RGD PMID:31899798 RGD:150520060
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:2105106 PMID:18371163 PMID:22759210 PMID:22906111 PMID:29296726 More... NCBI chr  X:155,977,859...155,979,373
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor 8 deficiency, congenital		 CTD
ClinVar		 PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More... NCBI chr  X:143,388,642...143,433,143
Ensembl chr  X:138,352,298...138,396,835 		JBrowse link
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,384,230...100,419,935
Ensembl chr  X:100,384,225...100,414,938 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,317,993...157,326,640
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,246,533...157,253,650
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Fcgr2a Fc gamma receptor 2A susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgf13 fibroblast growth factor 13 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:142,312,381...142,838,581
Ensembl chr  X:137,276,511...137,800,391 		JBrowse link
G Fgf16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:74,882,863...74,893,598
Ensembl chr  X:70,817,433...70,878,717 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:139,592,794...139,652,290
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Fmr1nb FMR1 neighbor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:147,309,613...147,332,426
Ensembl chr  X:147,309,663...147,332,418 		JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,425,218...70,432,120
Ensembl chr  X:66,385,558...66,392,115 		JBrowse link
G Foxr2 forkhead box R2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:18,242,420...18,276,095
Ensembl chr  X:18,244,255...18,245,163 		JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771 		JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,964,168...104,113,864
Ensembl chr  X:104,043,194...104,111,968 		JBrowse link
G Ftx FTX transcript, XIST regulator ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,654,112...72,696,097 JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:2105106 PMID:2563431 PMID:31690835 NCBI chr18:142,829...155,123
Ensembl chr18:132,248...138,345 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:155,301,979...155,543,870
Ensembl chr  X:150,261,607...150,501,559 		JBrowse link
G Gabre gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,060,035...150,078,773
Ensembl chr  X:150,060,040...150,078,693 		JBrowse link
G Gabrq gamma-aminobutyric acid type A receptor subunit theta ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,696,161...150,712,948
Ensembl chr  X:150,696,427...150,709,919 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,826,273...65,835,361
Ensembl chr  X:65,826,574...65,835,361 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,541,845...70,549,776
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:136,789,770...137,157,598
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:136,565,536...136,676,142
Ensembl chr  X:131,644,704...131,755,284 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Gpr119 G protein-coupled receptor 119 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,852,145...127,858,198
Ensembl chr  X:127,852,145...127,858,198 		JBrowse link
G Gpr174 G protein-coupled receptor 174 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,355,452...72,396,146
Ensembl chr  X:72,355,033...72,397,658 		JBrowse link
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,368,900...149,373,486
Ensembl chr  X:149,368,900...149,373,486 		JBrowse link
G Gprasp1 G protein-coupled receptor associated sorting protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,556,493...103,564,275
Ensembl chr  X:98,709,841...98,772,851 		JBrowse link
G Gprasp2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,609,304...103,615,450
Ensembl chr  X:98,817,593...98,824,402 		JBrowse link
G Gprasp3 G protein-coupled receptor associated sorting protein family member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,639,366...103,644,561
Ensembl chr  X:98,817,593...98,854,545 		JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:125,103,975...125,369,690
Ensembl chr  X:120,238,534...120,504,096 		JBrowse link
G Gucy2f guanylate cyclase 2F ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:110,507,183...110,605,017
Ensembl chr  X:105,710,356...105,808,183 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:2105106 PMID:18371163 PMID:22759210 PMID:22906111 PMID:29296726 More... NCBI chr  X:86,566,994...86,567,568
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,306,320...156,331,940
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,425,240...71,632,865
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Hdx highly divergent homeobox ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:76,552,539...76,697,177
Ensembl chr  X:76,560,665...76,869,972 		JBrowse link
G Heph hephaestin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,160,628...65,412,457
Ensembl chr  X:61,296,345...61,402,980 		JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:154,341,106...154,346,087
Ensembl chr  X:149,296,375...149,301,292 		JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:74,085,871...74,094,488
Ensembl chr  X:74,085,875...74,094,441
Ensembl chr 1:74,085,875...74,094,441 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:102,074,175...102,080,115
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:137,655,744...137,687,718
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:135,887,224...136,182,388
Ensembl chr  X:130,968,385...131,261,492 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:139,972,742...139,986,923
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,453,190...115,682,325
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:154,070,781...154,093,681
Ensembl chr  X:149,025,976...149,046,663 		JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,622,925...69,645,167
Ensembl chr  X:65,582,821...65,606,049 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il10 interleukin 10 treatment ISO DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) RGD PMID:20082647 RGD:11049183 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:120,213,670...120,294,777
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681 		JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,814,620...115,886,080
Ensembl chr  X:111,002,592...111,072,381 		JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein-like 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,961,509...102,271,753
Ensembl chr  X:100,961,812...102,271,753 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,435,340...70,439,052
Ensembl chr  X:66,392,542...66,399,823 		JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,258,117...134,325,706
Ensembl chr  X:134,258,125...134,309,617 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:110,132,490...110,148,473 JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,612,118...70,617,158
Ensembl chr  X:66,572,537...66,577,174 		JBrowse link
G Itih6 inter-alpha-trypsin inhibitor heavy chain family member 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,753,322...19,790,381
Ensembl chr  X:19,753,625...19,789,500 		JBrowse link
G Itm2a integral membrane protein 2A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,486,383...72,492,344
Ensembl chr  X:72,486,381...72,492,363 		JBrowse link
G Jpx JPX transcript, XIST activator ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,511,491...68,665,132 JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:110,727,234...110,727,849
Ensembl chr  X:105,930,398...105,931,013 		JBrowse link
G Kiaa1210 KIAA1210 homolog ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,675,412...115,725,950
Ensembl chr  X:115,675,427...115,725,925 		JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,761,803...69,864,335
Ensembl chr  X:65,721,779...65,824,139 		JBrowse link
G Klf8 KLF transcription factor 8 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:17,950,045...18,132,980
Ensembl chr  X:17,958,843...18,133,182 		JBrowse link
G Klhl13 kelch-like family member 13 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:113,942,309...114,107,299
Ensembl chr  X:113,942,309...114,107,321 		JBrowse link
G Klhl4 kelch-like family member 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:83,626,047...83,916,328
Ensembl chr  X:79,622,113...79,719,480 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,289,497...157,290,920
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:122,038,734...122,087,745
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687 		JBrowse link
G Ldoc1 LDOC1, regulator of NFKB signaling ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:139,965,509...140,074,355
Ensembl chr  X:139,965,509...140,074,355 		JBrowse link
G Lhfpl1 LHFPL tetraspan subfamily member 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:108,815,596...108,873,460
Ensembl chr  X:108,815,596...108,873,460 		JBrowse link
G LOC100912195 protein BEX1-like ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr 1:110,047,861...110,051,812 JBrowse link
G LOC120099525 small nucleolar RNA SNORA11 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,735,030...19,735,144
Ensembl chr  X:19,735,030...19,735,144 		JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,565,214...115,603,886
Ensembl chr  X:115,565,267...115,598,809 		JBrowse link
G Lpar4 lysophosphatidic acid receptor 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:76,106,319...76,119,807
Ensembl chr  X:72,033,486...72,046,977 		JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,903,760...115,986,569
Ensembl chr  X:111,092,814...111,174,210 		JBrowse link
G Luzp4 leucine zipper protein 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:111,280,490...111,321,363
Ensembl chr  X:111,280,549...111,321,359 		JBrowse link
G Magea10 MAGE family member A10 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:150,212,708...150,217,954
Ensembl chr  X:150,213,245...150,214,213 		JBrowse link
G Magea9 MAGE family member A9 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:142,619,282...142,624,654
Ensembl chr  X:142,619,395...142,624,653 		JBrowse link
G Magec2 MAGE family member C2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:145,646,856...145,651,730
Ensembl chr  X:140,606,825...140,615,471 		JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,733,593...19,741,769
Ensembl chr  X:19,733,597...19,740,477 		JBrowse link
G Magee1 MAGE family member E1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,189,242...70,192,789
Ensembl chr  X:70,189,187...70,192,810 		JBrowse link
G Magee2 MAGE family member E2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,885,751...69,944,824
Ensembl chr  X:69,942,533...69,944,657 		JBrowse link
G Mageh1 MAGE family member H1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:18,350,015...18,351,271
Ensembl chr  X:18,349,774...18,351,516 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:75,104,040...75,145,247
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Mbnl3 muscleblind-like splicing regulator 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:130,641,942...130,737,179
Ensembl chr  X:130,648,538...130,737,056 		JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446 		JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:122,215,602...122,228,101
Ensembl chr  X:117,350,889...117,362,504 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:109,143,057...109,245,257
Ensembl chr  X:104,355,316...104,453,473 		JBrowse link
G Mir105 microRNA 105 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:155,480,841...155,480,913
Ensembl chr  X:150,438,529...150,438,601 		JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:137,343,570...137,343,647
Ensembl chr  X:132,422,584...132,422,661 		JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:137,343,058...137,343,153
Ensembl chr  X:132,422,072...132,422,167 		JBrowse link
G Mir223 microRNA 223 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,151,383...65,151,492
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mir224 microRNA 224 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:155,107,130...155,107,211
Ensembl chr  X:150,065,088...150,065,169 		JBrowse link
G Mir322 microRNA 322 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:137,726,147...137,726,241
Ensembl chr  X:132,806,594...132,806,688 		JBrowse link
G Mir448 microRNA 448 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:110,829,918...110,830,029
Ensembl chr  X:110,829,918...110,830,029 		JBrowse link
G Mir503 microRNA 503 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:137,725,856...137,725,926
Ensembl chr  X:132,806,303...132,806,373 		JBrowse link
G Mmgt1 membrane magnesium transporter 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:139,445,834...139,458,169
Ensembl chr  X:134,408,466...134,420,729 		JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:108,269,197...108,317,611
Ensembl chr  X:103,480,603...103,528,956 		JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,874,850...104,885,946
Ensembl chr  X:100,082,404...100,093,728 		JBrowse link
G Mospd1 motile sperm domain containing 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:133,100,200...133,127,960
Ensembl chr  X:133,100,422...133,127,908
Ensembl chr 1:133,100,422...133,127,908
Ensembl chr14:133,100,422...133,127,908 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:2105106 PMID:31690835
G Msn moesin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,005,546...65,073,512
Ensembl chr  X:60,995,951...61,065,628 		JBrowse link
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr18:142,416...144,482 JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association		 ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:22411997 PMID:22411997 RGD:10449409, RGD:10449409 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr 6:6,234,917...6,252,874
Ensembl chr 6:488,969...506,860 		JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Nalf2 NALCN channel auxiliary factor 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:64,925,100...64,951,074
Ensembl chr  X:64,925,051...64,951,077 		JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,174,051...68,176,449
Ensembl chr  X:68,173,987...68,176,666 		JBrowse link
G Nap1l3 nucleosome assembly protein 1-like 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:88,347,595...88,350,393
Ensembl chr  X:88,347,598...88,350,393 		JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,088,076...69,219,253
Ensembl chr  X:69,088,076...69,112,930 		JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:66,969,953...67,209,464
Ensembl chr  X:66,970,151...67,200,911 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:121,238,714...121,258,360
Ensembl chr  X:116,372,839...116,394,945 		JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:120,992,038...121,010,251
Ensembl chr  X:116,128,798...116,144,628 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,469,251...70,497,380
Ensembl chr  X:66,429,458...66,451,876 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,594,116...70,611,976
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nrk Nik related kinase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:102,365,765...102,462,957
Ensembl chr  X:102,365,765...102,459,657 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Nup62cl nucleoporin 62 C-terminal like ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,668,458...103,724,957
Ensembl chr  X:103,668,455...103,724,081 		JBrowse link
G Nxf2 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:98,135,953...98,157,117
Ensembl chr  X:98,135,950...98,157,089 		JBrowse link
G Nxf3 nuclear RNA export factor 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,025,901...99,050,409
Ensembl chr  X:99,025,901...99,039,261 		JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526 		JBrowse link
G Nxt2 nuclear transport factor 2-like export factor 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:110,652,434...110,659,738
Ensembl chr  X:105,855,608...105,862,899 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:131,955,775...132,018,298
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,811,317...70,856,123
Ensembl chr  X:66,771,349...66,816,146 		JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,639,956...68,018,217
Ensembl chr  X:63,603,042...63,976,633 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Otud6a OTU deubiquitinase 6A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,514,113...65,516,287
Ensembl chr  X:65,514,191...65,515,063 		JBrowse link
G P2ry10 P2Y receptor family member 10 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,121,558...72,207,174
Ensembl chr  X:72,111,264...72,212,265 		JBrowse link
G P2ry4 pyrimidinergic receptor P2Y4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,722,604...69,757,726
Ensembl chr  X:65,683,232...65,721,748 		JBrowse link
G Pabir2 PABIR family member 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,989,124...133,015,625
Ensembl chr  X:132,989,124...133,015,580 		JBrowse link
G Pabir3 PABIR family member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:133,020,162...133,083,801
Ensembl chr  X:133,020,190...133,083,805 		JBrowse link
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,023,845...68,026,508 JBrowse link
G Pabpc1l2b poly(A) binding protein cytoplasmic 1 like 2B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835
G Pabpc5 poly A binding protein, cytoplasmic 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:89,858,502...89,862,454
Ensembl chr  X:85,638,574...85,639,722 		JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:111,912,967...112,171,037
Ensembl chr  X:107,260,898...107,368,314 		JBrowse link
G Pasd1 PAS domain containing repressor 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,617,933...149,639,214
Ensembl chr  X:149,620,972...149,638,675 		JBrowse link
G Pbdc1 polysaccharide biosynthesis domain containing 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,154,106...70,197,827
Ensembl chr  X:70,154,106...70,184,552 		JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:90,279,191...90,974,671
Ensembl chr  X:86,058,394...86,747,036 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Pdzd11 PDZ domain containing 11 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,758,765...69,761,811
Ensembl chr  X:65,704,067...65,721,642 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,681,717...156,712,031
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:22,936,038...22,989,691
Ensembl chr  X:19,508,546...19,562,182 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:120,698,610...120,706,805
Ensembl chr  X:115,832,884...115,888,682 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:137,576,214...137,619,297
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,639,701...71,778,465
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,272,034...71,278,676
Ensembl chr  X:67,232,081...67,238,702 		JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:64,580,938...64,585,846
Ensembl chr  X:64,580,849...64,585,833 		JBrowse link
G Plac1 placenta enriched 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,821,347...132,955,143
Ensembl chr  X:132,821,347...132,985,668 		JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,933,921...104,993,317
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,401,247...116,495,898
Ensembl chr  X:111,589,254...111,683,891 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,266,986...157,282,896
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,645,505...156,660,011
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,520,751...156,524,828
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:155,946,428...155,952,761
Ensembl chr  X:150,906,278...150,910,839 		JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:155,923,131...155,925,055
Ensembl chr  X:150,880,865...150,882,789 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,254,009...156,259,971
Ensembl chr  X:151,103,755...151,106,037 		JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:81,875,348...81,942,046
Ensembl chr  X:77,683,128...77,749,688 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:79,974,808...79,976,085
Ensembl chr  X:75,858,646...75,859,923 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:123,978,010...123,979,928
Ensembl chr  X:123,977,985...123,979,942 		JBrowse link
G Prrg3 proline rich and Gla domain 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,666,498...149,689,353
Ensembl chr  X:149,670,257...149,677,373 		JBrowse link
G Psmd10 proteasome 26S subunit, non-ATPase 10 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:109,445,291...109,453,605
Ensembl chr  X:104,656,812...104,665,097 		JBrowse link
G Pwwp3b PWWP domain containing 3B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:102,804,416...102,838,580
Ensembl chr  X:102,804,520...102,838,574 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,572,133...132,584,255
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:105,013,178...105,023,872
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Radx RPA1 related single stranded DNA binding protein, X-linked ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:107,877,835...107,965,476
Ensembl chr  X:103,089,284...103,176,838 		JBrowse link
G Rap2c RAP2C, member of RAS oncogene family ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:135,388,881...135,401,998
Ensembl chr  X:130,504,698...130,518,328 		JBrowse link
G Rbm41 RNA binding motif protein 41 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,605,732...103,660,381
Ensembl chr  X:103,608,585...103,660,381 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:140,342,544...140,352,121
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Rbmx2 RNA binding motif protein, X-linked 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,766,395...132,774,120
Ensembl chr  X:127,888,438...127,896,869 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644 		JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:121,373,153...121,379,870
Ensembl chr  X:116,507,488...116,513,870 		JBrowse link
G Ripply1 ripply transcriptional repressor 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,436,731...103,440,904
Ensembl chr  X:103,436,729...103,443,349 		JBrowse link
G Rlim ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:73,048,983...73,070,302
Ensembl chr  X:68,988,375...69,004,271 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762 		JBrowse link
G Rnf128 ring finger protein 128 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:107,968,973...108,087,037
Ensembl chr  X:103,183,831...103,298,423 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr20:97,766,179...97,768,892 		JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:121,192,901...121,195,896
Ensembl chr18:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
Ensembl chr15:6,326,330...6,326,692
Ensembl chr20:6,326,330...6,326,692
Ensembl chr 7:6,326,330...6,326,692 		JBrowse link
G Rps4x ribosomal protein S4, X-linked ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,298,522...67,302,965
Ensembl chr  X:67,298,525...67,303,019
Ensembl chr 4:67,298,525...67,303,019 		JBrowse link
G Rps6ka6 ribosomal protein S6 kinase A6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:80,537,723...80,638,910
Ensembl chr  X:76,353,760...76,454,484 		JBrowse link
G Rragb Ras-related GTP binding B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:21,560,313...21,610,550
Ensembl chr  X:18,184,992...18,234,639 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO RGD PMID:9157572 RGD:11041784 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G Rtl3 retrotransposon Gag like 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,947,343...71,951,008
Ensembl chr  X:71,948,253...71,950,121 		JBrowse link
G Rtl4 retrotransposon Gag like 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:113,027,697...113,438,382
Ensembl chr  X:108,633,651...108,640,050 		JBrowse link
G Rtl5 retrotransposon Gag like 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:67,183,948...67,188,747
Ensembl chr  X:67,184,154...67,188,809 		JBrowse link
G Rtl8a retrotransposon Gag like 8A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:133,414,027...133,415,240
Ensembl chr  X:133,414,030...133,415,240 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:111,470,972...111,517,356
Ensembl chr  X:106,714,868...106,719,794 		JBrowse link
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,204,717...132,219,421
Ensembl chr  X:127,326,859...127,341,519 		JBrowse link
G Satl1 spermidine/spermine N1-acetyl transferase-like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:77,453,357...77,469,100
Ensembl chr  X:77,453,357...77,469,158 		JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,153,255...116,230,334
Ensembl chr  X:116,153,255...116,230,115 		JBrowse link
G Serpina7 serpin family A member 7 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:107,452,044...107,510,958
Ensembl chr  X:102,663,405...102,669,040 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:126,239,191...126,267,425 JBrowse link
G Sh3bgrl1 SH3 domain binding glutamate rich protein like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:78,242,704...78,343,633
Ensembl chr  X:74,166,871...74,263,783 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,306,043...157,309,849
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,791,096...72,914,299
Ensembl chr  X:68,723,261...68,848,771 		JBrowse link
G Slc25a14 solute carrier family 25 member 14 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,807,630...127,845,823
Ensembl chr  X:127,807,449...127,845,823 		JBrowse link
G Slc25a43 solute carrier family 25, member 43 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:115,977,437...116,011,789
Ensembl chr  X:115,977,510...116,011,205 		JBrowse link
G Slc25a5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:120,897,616...120,900,683
Ensembl chr  X:116,031,803...116,034,967 		JBrowse link
G Slc25a53 solute carrier family 25, member 53 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,306,917...100,319,662
Ensembl chr  X:100,306,915...100,319,863 		JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:117,109,063...117,169,522
Ensembl chr  X:112,314,691...112,375,096 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,536,017...156,545,321
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,250,089...70,256,610
Ensembl chr  X:66,210,081...66,215,708 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:139,468,045...139,524,111
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Slitrk2 SLIT and NTRK-like family, member 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:145,246,448...145,259,983
Ensembl chr  X:145,246,460...145,271,220 		JBrowse link
G Slitrk4 SLIT and NTRK-like family, member 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:147,728,163...147,755,086
Ensembl chr  X:142,706,338...142,718,575 		JBrowse link
G Smarca1 SNF2 related chromatin remodeling ATPase 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:126,980,201...127,066,385
Ensembl chr  X:126,994,947...127,066,347 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,267,013...70,396,948
Ensembl chr  X:66,227,053...66,356,950 		JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,292,030...116,293,660
Ensembl chr  X:116,292,030...116,293,660 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:144,344,892...144,346,971
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Spin2a spindlin family member 2A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:20,847,871...20,849,854
Ensembl chr  X:17,511,022...17,513,001 		JBrowse link
G Spin2b spindlin family member 2B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,923,341...19,925,119
Ensembl chr  X:17,180,474...17,192,351 		JBrowse link
G Spin4 spindlin family, member 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:63,898,338...63,902,427
Ensembl chr  X:59,891,581...59,892,330 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,675,658...156,679,545
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:125,839,660...125,971,209
Ensembl chr  X:120,974,857...121,105,677 		JBrowse link
G Stard8 StAR-related lipid transfer domain containing 8 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,119,276...68,236,247
Ensembl chr  X:64,124,574...64,196,052 		JBrowse link
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:120,953,335...120,979,861
Ensembl chr  X:116,060,929...116,114,159 		JBrowse link
G Stk26 serine/threonine kinase 26 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:135,195,176...135,259,994
Ensembl chr  X:130,310,885...130,374,291 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:101,428,785...101,479,207
Ensembl chr  X:97,135,500...97,185,854 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,680,901...70,756,535
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:101,953,508...101,968,336
Ensembl chr  X:97,660,222...97,675,023 		JBrowse link
G Taf9b TATA-box binding protein associated factor 9b ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:71,289,290...71,300,142
Ensembl chr  X:71,289,290...71,300,604 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,216,826...157,230,524
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133 		JBrowse link
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:76,796,398...76,847,447
Ensembl chr  X:72,723,617...72,774,647 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,850,775...104,852,724
Ensembl chr  X:100,058,132...100,060,551 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,802,966...104,804,926
Ensembl chr  X:100,010,690...100,012,654
Ensembl chr  X:100,010,690...100,012,654 		JBrowse link
G Tceal5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,204,422...99,207,373
Ensembl chr  X:99,204,429...99,207,353 		JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,228,405...99,230,551
Ensembl chr  X:99,228,458...99,230,543 		JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,171,307...99,173,377
Ensembl chr  X:99,171,177...99,173,710 		JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:99,245,645...99,247,720
Ensembl chr  X:99,228,458...99,247,763 		JBrowse link
G Tcp11x2 t-complex 11 family, X-linked 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:98,591,191...98,640,800
Ensembl chr  X:98,591,189...98,640,763 		JBrowse link
G Tenm1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:126,265,968...127,155,737
Ensembl chr  X:121,403,649...122,290,207 		JBrowse link
G Tent5d terminal nucleotidyltransferase 5D ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,901,287...72,974,562
Ensembl chr  X:72,901,241...72,970,573 		JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,973,012...70,236,544
Ensembl chr  X:65,932,988...66,196,187 		JBrowse link
G Tex13a testis expressed 13A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:101,598,992...101,601,951
Ensembl chr  X:101,600,495...101,601,933 		JBrowse link
G Tex13b testis expressed 13B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,490,937...104,511,224
Ensembl chr  X:104,490,091...104,494,201 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:24263002 PMID:24687919 PMID:22355108 RGD:11060141, RGD:11060256, RGD:11060147 NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tgif2lx2 TGFB-induced factor homeobox 2-like, X-linked 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:84,109,203...84,110,264
Ensembl chr  X:84,109,220...84,110,274 		JBrowse link
G Thoc2 THO complex subunit 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:125,500,549...125,615,139
Ensembl chr  X:120,634,968...120,749,513 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:102,011,206...102,015,444
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:111,084,830...111,245,419
Ensembl chr  X:106,289,371...106,448,640 		JBrowse link
G Tmem185a transmembrane protein 185A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:149,143,026...149,167,757
Ensembl chr  X:149,143,031...149,167,757 		JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr20:96,561...144,414
Ensembl chr20:91,272...140,386 		JBrowse link
G Tmsb15b2 thymosin beta 15B2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:100,298,705...100,300,820
Ensembl chr  X:100,298,514...100,300,886 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:101,350,432...101,365,929
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,303,203...156,304,811
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tro trophinin ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,563,395...19,574,507
Ensembl chr  X:19,563,517...19,572,953 		JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:112,742,828...113,027,638
Ensembl chr  X:107,939,131...108,230,991 		JBrowse link
G Trpc5os TRPC5 opposite strand ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:108,025,172...108,044,201
Ensembl chr  X:108,024,924...108,046,581 		JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:109,006,410...109,066,389
Ensembl chr  X:104,217,925...104,276,861 		JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:101,385,686...101,395,371
Ensembl chr  X:97,092,388...97,099,309 		JBrowse link
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:120,979,993...120,990,773
Ensembl chr  X:116,113,875...116,125,070 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:157,302,528...157,305,380
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:21,228,809...21,232,228
Ensembl chr  X:17,853,114...17,856,505 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236 		JBrowse link
G Uprt uracil phosphoribosyltransferase homolog ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:69,516,573...69,546,811
Ensembl chr  X:69,516,738...69,546,797 		JBrowse link
G Usp26 ubiquitin specific peptidase 26 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:136,237,504...136,284,646
Ensembl chr  X:131,319,194...131,363,970 		JBrowse link
G Usp51 ubiquitin specific peptidase 51 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:21,750,630...21,757,163
Ensembl chr  X:18,376,930...18,379,888 		JBrowse link
G Utp14a UTP14A small subunit processome component ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,317,163...132,342,524
Ensembl chr  X:127,439,268...127,464,633 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835
G Vcf2 VCP nuclear cofactor family member 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:19,310,182...19,393,156
Ensembl chr  X:19,349,560...19,378,486 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Vma21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:154,536,493...154,545,794
Ensembl chr  X:149,491,738...149,499,272 		JBrowse link
G Vsig1 V-set and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:104,607,031...104,640,128
Ensembl chr  X:104,607,031...104,639,249 		JBrowse link
G Vsig4 V-set and immunoglobulin domain containing 4 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:65,154,422...65,179,708
Ensembl chr  X:61,144,928...61,170,212 		JBrowse link
G Vwf von Willebrand factor treatment ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar
RGD		 PMID:25741868 PMID:25955153 RGD:11073776 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Wdr44 WD repeat domain 44 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:119,286,802...119,392,240
Ensembl chr  X:114,482,006...114,587,224 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:125,756,107...125,803,979
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
G Xist X inactive specific transcript ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:72,540,753...72,558,266 JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,165,696...132,194,937
Ensembl chr  X:127,287,979...127,317,223 		JBrowse link
G Yipf6 Yip1 domain family, member 6 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,079,754...68,091,845
Ensembl chr  X:64,040,952...64,054,702 		JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023 		JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:120,299,138...120,302,465
Ensembl chr  X:115,433,259...115,436,692 		JBrowse link
G Zcchc13 zinc finger CCHC-type containing 13 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:68,643,568...68,644,671
Ensembl chr  X:68,643,549...68,665,131 		JBrowse link
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:73,633,977...73,767,451
Ensembl chr  X:69,574,124...69,701,756 		JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:132,230,243...132,266,139
Ensembl chr  X:127,352,345...127,388,245 		JBrowse link
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:155,874,138...155,919,921
Ensembl chr  X:150,831,862...150,874,810 		JBrowse link
G Zfp280c zinc finger protein 280C ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:127,716,403...127,807,600
Ensembl chr  X:127,717,983...127,779,825 		JBrowse link
G Zfp449 zinc finger protein 449 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,120,820...134,140,921
Ensembl chr  X:134,122,636...134,140,924 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:77,646,300...77,679,398
Ensembl chr  X:77,646,558...77,678,045 		JBrowse link
G Zfp75d zinc finger protein 75D ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:134,035,116...134,053,765
Ensembl chr  X:134,036,143...134,051,519 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:156,268,220...156,293,790
Ensembl chr  X:151,117,102...151,143,177 		JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:141,159,623...141,165,587
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
G Zmat1 zinc finger, matrin-type 1 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:98,168,388...98,199,415
Ensembl chr  X:98,168,456...98,199,733 		JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:70,568,573...70,584,221
Ensembl chr  X:66,528,585...66,544,782 		JBrowse link
G Zxda zinc finger, X-linked, duplicated A ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:63,770,485...63,775,624
Ensembl chr  X:59,763,210...59,765,903
Ensembl chr  X:59,763,210...59,765,903 		JBrowse link
G Zxdb zinc finger, X-linked, duplicated B ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital ClinVar PMID:31690835 NCBI chr  X:63,710,381...63,716,353
Ensembl chr  X:59,701,178...59,703,871
Ensembl chr  X:59,701,178...59,703,871 		JBrowse link
Factor VIII Deficiency, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO CTD Direct Evidence: therapeutic CTD PMID:11886462 NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857 		JBrowse link
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman1 lectin, mannose-binding, 1 ISO ClinVar Annotator: match by term: FMFD I OMIM
ClinVar		 PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 NCBI chr18:61,778,971...61,800,960
Ensembl chr18:59,508,996...59,530,851 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: FMFD I ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chr 6:13,028,036...13,039,388
Ensembl chr 6:7,274,469...7,285,841 		JBrowse link
Fanconi anemia complementation group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8368240 PMID:15502827 PMID:16199547 PMID:16679491 PMID:17924555 More... NCBI chr  X:33,035,387...33,051,993
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
FG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
ClinVar Annotator: match by term: FG syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:25741868 PMID:19200522 RGD:11576290 NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:8,899,833...9,238,694 		JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)		 CTD
ClinVar
RGD		 PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... RGD:12910952, RGD:12910948 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,425,218...70,432,120
Ensembl chr  X:66,385,558...66,392,115 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,541,845...70,549,776
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,435,340...70,439,052
Ensembl chr  X:66,392,542...66,399,823 		JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,612,118...70,617,158
Ensembl chr  X:66,572,537...66,577,174 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar		 PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More... NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,469,251...70,497,380
Ensembl chr  X:66,429,458...66,451,876 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,594,116...70,611,976
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,250,089...70,256,610
Ensembl chr  X:66,210,081...66,215,708 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,267,013...70,396,948
Ensembl chr  X:66,227,053...66,356,950 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,680,901...70,756,535
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:69,973,012...70,236,544
Ensembl chr  X:65,932,988...66,196,187 		JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,568,573...70,584,221
Ensembl chr  X:66,528,585...66,544,782 		JBrowse link
FG Syndrome 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: FG syndrome 2 OMIM
ClinVar		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4 OMIM
ClinVar		 PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More... NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:8,899,833...9,238,694 		JBrowse link
frontometaphyseal dysplasia 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: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1
DNA:missense mutations, deletions:cds:multiple (human)		 OMIM
ClinVar
RGD		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... RGD:11063279 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked | ClinVar Annotator: match by term: LAGE3-related condition OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:157,289,497...157,290,920
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
glycogen storage disease IXA 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: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:39,065,842...39,137,521
Ensembl chr  X:35,263,576...35,328,816 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,401,122...33,465,427 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:37,566,320...37,796,766
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: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:39,307,320...39,322,023
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: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 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: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 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: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:32,553,300...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: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:38,509,158...38,522,986
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO
IAGP		 ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I | ClinVar Annotator: match by term: PHKA2-related condition
DNA:mutations:multiple
DNA:missense mutations:multiple 		OMIM
ClinVar
RGD		 PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:8733133 More... RGD:26884355, RGD:26884354, RGD:26884353 NCBI chr  X:37,979,629...38,102,656
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: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:37,803,204...37,960,378
Ensembl chr  X:34,021,350...34,151,701 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:36,580,406...36,642,943
Ensembl chr  X:32,948,656...33,011,264 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:39,325,926...39,432,017
Ensembl chr  X:35,517,306...35,623,207 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:37,771,135...37,800,894
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: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 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: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 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: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:38,686,530...39,031,658
Ensembl chr  X:34,877,866...35,222,747 		JBrowse link
glycogen storage disease IXD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO
ISS		 ClinVar Annotator: match by term: GSD IXd | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition
OMIM:300559
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 More... NCBI chr  X:71,639,701...71,778,465
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd ClinVar PMID:10330341 PMID:12862311 PMID:23578772 PMID:25741868 PMID:27103379 More... NCBI chr  X:37,979,629...38,102,656
Ensembl chr  X:34,171,323...34,293,466 		JBrowse link
glycogen storage disease VIII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE VIII | ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver ClinVar PMID:7711737 PMID:9536098 PMID:10330341 PMID:12862311 PMID:16199547 More... NCBI chr  X:37,979,629...38,102,656
Ensembl chr  X:34,171,323...34,293,466 		JBrowse link
hemophilia B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:143,600,763...143,788,407
Ensembl chr  X:138,565,836...138,751,204 		JBrowse link
G Cxhxorf66 similar to human chromosome X open reading frame 66 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,779,374...138,819,595
Ensembl chr  X:138,779,382...138,785,707 		JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1671991 More... NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857 		JBrowse link
G F9 coagulation factor IX treatment ISO
ISS		 ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: HEMOPHILIA B BRANDENBURG | ClinVar Annotator: match by term: Hemophilia B leyden | ClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency | ClinVar Annotator: match by term: Hemophilia b(m) | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease
OMIM:306900
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:P.G396R,K411X,I397T(human)
DNA:nonsense mutation:cds:p.R338X (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:734633 PMID:884315 PMID:1346077 PMID:1346975 PMID:1357229 More... RGD:9685705, RGD:10450764, RGD:10450762, RGD:10450761, RGD:10450760, RGD:10450759 NCBI chr  X:143,388,642...143,433,143
Ensembl chr  X:138,352,298...138,396,835 		JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:144,344,892...144,346,971
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
hereditary spastic paraplegia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:104,874,850...104,885,946
Ensembl chr  X:100,082,404...100,093,728 		JBrowse link
G Plp1 proteolipid protein 1 ISO
ISS		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED | ClinVar Annotator: match by term: Spastic paraplegia 2
OMIM:312920
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1047279 PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 More... NCBI chr  X:104,933,921...104,993,317
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED | ClinVar Annotator: match by term: Spastic paraplegia 2 ClinVar PMID:1047279 PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 More... NCBI chr  X:105,013,178...105,023,872
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:25741868 NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:104,850,775...104,852,724
Ensembl chr  X:100,058,132...100,060,551 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:104,802,966...104,804,926
Ensembl chr  X:100,010,690...100,012,654
Ensembl chr  X:100,010,690...100,012,654 		JBrowse link
Holoprosencephaly 13, X-linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:126,239,191...126,267,425 JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked OMIM
ClinVar		 PMID:25741868 PMID:28296084 PMID:28492532 PMID:31334757 NCBI chr  X:125,839,660...125,971,209
Ensembl chr  X:120,974,857...121,105,677 		JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:194,006,926...194,018,971
Ensembl chr 2:191,318,482...191,330,531 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 NCBI chr 2:193,998,350...194,006,873
Ensembl chr 2:191,309,913...191,318,423 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:16332973 PMID:19734544 More... NCBI chr  X:157,751,651...157,757,796 JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29625052 PMID:32155570 PMID:36113475 NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia		 CTD
ClinVar		 PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 More... NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr15:33,140,611...33,146,930
Ensembl chr15:29,170,652...29,176,984 		JBrowse link
HRPT-related hyperuricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr 1:104,763,200...104,776,270
Ensembl chr 1:95,613,558...95,640,131 		JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431 		JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:136,789,770...137,157,598
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301916 PMID:1483694 PMID:1487231 PMID:1551676 PMID:1618489 More... NCBI chr  X:137,655,744...137,687,718
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:137,343,570...137,343,647
Ensembl chr  X:132,422,584...132,422,661 		JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:137,343,058...137,343,153
Ensembl chr  X:132,422,072...132,422,167 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:137,576,214...137,619,297
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
hypogonadotropic hypogonadism 1 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfdc17 WAP four-disulfide core domain 17 ISO ClinVar Annotator: match by term: ANOS1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia OMIM
ClinVar		 PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 More... NCBI chr10:69,059,451...69,060,298
Ensembl chr10:68,561,954...68,562,801 		JBrowse link
ichthyosis follicularis-alopecia-photophobia syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30431684 PMID:35396755 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUT BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA | ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome		 OMIM
CTD
ClinVar		 PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 More... NCBI chr  X:41,225,956...41,290,030
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome ClinVar PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 NCBI chr10:45,507,152...45,529,164
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome ClinVar PMID:25741868 NCBI chr  X:41,253,481...41,257,103
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
IGSF1 deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar PMID:25741868 NCBI chr17:1,817,001...2,133,008
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:33,035,387...33,051,993
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar PMID:25741868 NCBI chr17:1,686,374...1,818,672
Ensembl chr17:1,681,324...1,829,376 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO
ISS		 ClinVar Annotator: match by term: IGSF1-related condition | ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
OMIM:300888		 OMIM
ClinVar
MouseDO		 PMID:23143598 PMID:23966245 PMID:25741868 PMID:26840047 PMID:27310681 More... NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		JBrowse link
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:18,107,256...18,117,549
Ensembl chr  X:15,435,410...15,445,684 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:3,780,932...3,845,919
Ensembl chr  X:1,227,392...1,239,073 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:18,840,943...18,846,006
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 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: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:19471859 PMID:28492532 PMID:30443250 NCBI chr  X:17,570,184...17,582,130
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:18,149,915...18,214,801
Ensembl chr  X:15,478,065...15,542,885 		JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:1,492,814...1,504,309
Ensembl chr  X:1,492,814...1,504,148 		JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:3,715,551...3,721,113
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:18,253,849...18,385,805
Ensembl chr  X:15,583,572...15,712,987 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) RGD PMID:29058101 RGD:40886273 NCBI chr 1:232,075,468...232,268,830
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:3,692,367...3,709,252
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 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
ISS		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
OMIM:304790
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 More... RGD:1598959 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:16,915,087...16,929,426
Ensembl chr  X:14,244,050...14,252,030 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 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: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 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: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,350,817...17,380,626
Ensembl chr  X:14,678,898...14,708,679 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Jade3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:1,668,873...1,848,781
Ensembl chr  X:1,669,930...1,845,138 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 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: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 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: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,930,647...17,930,726
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,919,185...17,919,263
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,296,750...17,331,257
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: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,251,963...17,255,405
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: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,289,509...17,294,778
Ensembl chr  X:14,617,582...14,622,851 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,506,153...17,509,552
Ensembl chr  X:14,834,231...14,838,514 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,581,467...17,617,087
Ensembl chr  X:14,929,323...14,945,193 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,275,445...17,280,018
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 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: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:4,093,914...4,126,060
Ensembl chr  X:1,540,398...1,572,575 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,020,863...17,024,341
Ensembl chr  X:14,348,910...14,353,580 		JBrowse link
G Rgn regucalcin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:4,172,537...4,190,112
Ensembl chr  X:1,619,032...1,634,450 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:18,537,371...18,748,665
Ensembl chr  X:15,869,065...16,076,869 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:16,885,701...16,894,470
Ensembl chr  X:14,213,729...14,222,498 		JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:2,214,064...2,395,052
Ensembl chr  X:2,214,441...2,388,012 		JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:3,472,369...3,475,552
Ensembl chr  X:918,817...922,049 		JBrowse link
G Ssx1 SSX family member 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:16,603,888...16,612,203
Ensembl chr  X:13,931,470...13,939,720 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,093,059...17,105,942
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: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:146,828,818...146,831,485 JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:3,725,745...3,780,940
Ensembl chr  X:1,172,208...1,227,396 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,521,348...17,536,449
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:16,986,629...17,010,228
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: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,401,466...17,414,829
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: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,268,257...17,275,424
Ensembl chr  X:14,594,577...14,603,416 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:4,062,216...4,084,192
Ensembl chr  X:1,508,666...1,530,636 		JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:4,026,865...4,043,036
Ensembl chr  X:1,473,350...1,489,520 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,795,506...17,798,741
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
G Uxt ubiquitously-expressed, prefoldin-like chaperone ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:3,679,630...3,691,944
Ensembl chr  X:1,126,162...1,138,663 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,077,057...17,085,802
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:14,362,484...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: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:17,448,195...17,454,117
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr12:21,356,253...21,393,006
Ensembl chr12:16,248,230...16,270,698 		JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:927,439...1,001,474
Ensembl chr  X:899,439...1,000,954 		JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:1,030,103...1,126,078
Ensembl chr  X:1,036,153...1,126,102 		JBrowse link
immunodeficiency 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 102 OMIM
ClinVar		 PMID:25741868 PMID:33876203 PMID:35464398 NCBI chr  X:132,204,717...132,219,421
Ensembl chr  X:127,326,859...127,341,519 		JBrowse link
immunodeficiency 118 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: Immunodeficiency 118 OMIM
ClinVar		 PMID:37875108 NCBI chr  X:122,215,602...122,228,101
Ensembl chr  X:117,350,889...117,362,504 		JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,787,566...156,802,841
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,785,009...156,787,477
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,548,911...156,581,002
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr 9:2,073,927...2,076,469
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr10:64,144,560...64,145,723
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr20:154,630...169,655
Ensembl chr20:148,907...164,355 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr18:139,382...147,037
Ensembl chr18:125,227...132,160 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:148,567,674...148,568,972
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,751,651...157,757,796 JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,208,230...157,216,812
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,503,237...156,507,162
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857 		JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,977,859...155,979,373
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,317,993...157,326,640
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,246,533...157,253,650
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr18:142,829...155,123
Ensembl chr18:132,248...138,345 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:86,566,994...86,567,568
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,306,320...156,331,940
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11484156 PMID:11590134 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il9r interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr10:15,936,156...15,947,613
Ensembl chr10:15,431,706...15,441,990 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,289,497...157,290,920
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr18:142,416...144,482 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,681,717...156,712,031
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,266,986...157,282,896
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,645,505...156,660,011
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,520,751...156,524,828
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,306,043...157,309,849
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,536,017...156,545,321
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Spry3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr12:21,777,090...21,786,280
Ensembl chr12:16,663,389...16,672,531 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,675,658...156,679,545
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,216,826...157,230,524
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr20:96,561...144,414
Ensembl chr20:91,272...140,386 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,303,203...156,304,811
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,302,528...157,305,380
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Vamp7 vesicle-associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr12:21,842,206...21,958,556
Ensembl chr12:16,728,524...16,764,097 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybb cytochrome b-245 beta chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency		 OMIM
CTD
ClinVar		 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 More... NCBI chr  X:16,030,596...16,065,065
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
immunodeficiency 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 47 OMIM
ClinVar		 PMID:25741868 PMID:27231034 PMID:28492532 PMID:28688840 PMID:29192153 More... NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY AND HEPATOPATHY WITH OR WITHOUT NEUROLOGIC FEATURES ClinVar PMID:25741868 NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
immunodeficiency 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msn moesin ISO ClinVar Annotator: match by term: Combined immunodeficiency due to moesin deficiency | ClinVar Annotator: match by term: MSN-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27405666 PMID:28378256 PMID:28492532 More... NCBI chr  X:65,005,546...65,073,512
Ensembl chr  X:60,995,951...61,065,628 		JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 61 | ClinVar Annotator: match by term: SH3KBP1-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29636373 NCBI chr  X:38,686,530...39,031,658
Ensembl chr  X:34,877,866...35,222,747 		JBrowse link
immunodeficiency 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Faslg Fas ligand ISO ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked ClinVar PMID:28492532 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Tlr8 toll-like receptor 8 ISO ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked | ClinVar Annotator: match by term: TLR8-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33512449 PMID:34981838 NCBI chr  X:30,708,714...30,733,104
Ensembl chr  X:27,091,778...27,116,549 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13a ARF like GTPase 13A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702 		JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,898,969...97,902,874
Ensembl chr  X:97,898,883...97,903,299 		JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,980,662...97,985,523
Ensembl chr  X:97,980,660...97,985,552 		JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:102,230,464...102,234,017
Ensembl chr  X:97,936,999...97,942,098 		JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912 		JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,929,032...97,932,031
Ensembl chr  X:97,929,041...97,931,977 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: BTK-related condition | ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 More... NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,809,192...101,860,935
Ensembl chr  X:97,515,972...97,567,657 		JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:102,074,175...102,080,115
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr20:97,766,179...97,768,892 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,428,785...101,479,207
Ensembl chr  X:97,135,500...97,185,854 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,953,508...101,968,336
Ensembl chr  X:97,660,222...97,675,023 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chr  X:102,011,206...102,015,444
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,350,432...101,365,929
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,385,686...101,395,371
Ensembl chr  X:97,092,388...97,099,309 		JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759 		JBrowse link
Joubert syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Joubert syndrome 10 ClinVar PMID:25741868 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome 10
CTD Direct Evidence: marker/mechanism
DNA:duplication:exon:2122-2125dup (human)
DNA:deletions:exon:c.2841_2847del, c.2767del (human)		 OMIM
ClinVar
CTD
RGD		 PMID:12595504 PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 More... RGD:11535965, RGD:11535963 NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: GPC4-related condition | ClinVar Annotator: match by term: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:136,565,536...136,676,142
Ensembl chr  X:131,644,704...131,755,284 		JBrowse link
Kennedy's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor treatment ISO DNA:mutation,repeats:cds:
ClinVar Annotator: match by term: Bulbospinal neuronopathy X-linked recessive | ClinVar Annotator: match by term: Kennedy disease
CTD Direct Evidence: marker/mechanism
DNA:repeats:exon		 OMIM
ClinVar
CTD
RGD		 PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 More... RGD:734599, RGD:11576241, RGD:11576229 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
Lesch-Nyhan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO
ISS		 ClinVar Annotator: match by term: HPRT DEFICIENCY, COMPLETE | ClinVar Annotator: match by term: Lesch-Nyhan syndrome
OMIM:300322
CTD Direct Evidence: marker/mechanism
DNA:deletion,insertion,duplication:cds:
DNA:mutations:multiple:		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1301916 PMID:1434518 PMID:1551676 PMID:1618489 PMID:1639405 More... RGD:13463104, RGD:13462064 NCBI chr  X:137,655,744...137,687,718
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Xdh xanthine dehydrogenase treatment ISO RGD PMID:17697859 RGD:7247657 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
Lesch-Nyhan Syndrome, Neurologic Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO DNA,mRNA:missense mutations,decreased expression:cds:
ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant		 ClinVar
RGD		 PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 More... RGD:13463104 NCBI chr  X:137,655,744...137,687,718
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
low molecular weight proteinuria with hypercalciuric nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9328929 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
MASA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
G L1cam L1 cell adhesion molecule ISO
ISS		 DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human)
ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
OMIM:303350
DNA:deletion:exon:
DNA:mutation:cds:924C>T(human)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1303258 PMID:1870106 PMID:3460961 PMID:7493978 PMID:7562969 More... RGD:6483061, RGD:11570406, RGD:11064095 NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr19:68,365,687...68,374,741
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
megalocornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrdl1 chordin-like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea		 CTD
ClinVar
OMIM		 PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 More... NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) RGD PMID:22025892 RGD:156451371 NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: EIF2S3-related condition | ClinVar Annotator: match by term: MEHMO syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 More... NCBI chr  X:62,910,292...62,933,936
Ensembl chr  X:58,917,490...58,940,686 		JBrowse link
MEND syndrome 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: EBP-related condition | ClinVar Annotator: match by term: MEND syndrome OMIM
ClinVar		 PMID:11038443 PMID:12503101 PMID:12966533 PMID:18414213 PMID:20949533 More... NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 PMID:31905202 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Hcfc1 host cell factor C1 ISO
ISS		 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
OMIM:309541
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 PMID:31905202 NCBI chr19:50,656,839...50,658,656
Ensembl chr19:33,746,854...33,749,540 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More... NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM
ClinVar		 PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:111,262,792...111,368,099
Ensembl chr  X:106,466,699...106,571,487 		JBrowse link
G Gng5-ps4 G protein subunit gamma 5, pseudogene 4 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr11:58,096,275...58,096,795
Ensembl chr11:44,627,300...44,627,503 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:111,470,972...111,517,356
Ensembl chr  X:106,714,868...106,719,794 		JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:111,084,830...111,245,419
Ensembl chr  X:106,289,371...106,448,640 		JBrowse link
Mullegama-Klein-Martinez syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:126,239,191...126,267,425 JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome | ClinVar Annotator: match by term: STAG2-related disorder OMIM
ClinVar		 PMID:25741868 PMID:28296084 PMID:28492532 PMID:29263825 PMID:30158690 More... NCBI chr  X:125,839,660...125,971,209
Ensembl chr  X:120,974,857...121,105,677 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,925,458...33,972,851
Ensembl chr  X:30,293,589...30,340,977 		JBrowse link
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:34,204,601...34,230,819
Ensembl chr  X:30,572,751...30,597,262 		JBrowse link
G Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,646,389...33,669,790
Ensembl chr  X:29,992,416...30,037,807 		JBrowse link
G Asb9 ankyrin repeat and SOCS box-containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,588,484...33,633,285
Ensembl chr  X:29,956,576...30,001,105 		JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,859,128...33,921,876
Ensembl chr  X:30,227,251...30,289,993 		JBrowse link
G Car5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:30,474,697...30,534,797
Ensembl chr  X:30,474,784...30,533,837 		JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,993,825...34,027,124
Ensembl chr  X:30,361,967...30,395,349 		JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,035,387...33,051,993
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,052,063...33,105,550
Ensembl chr  X:29,420,586...29,462,398 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:33,672,832...33,687,747
Ensembl chr  X:30,042,343...30,055,804 		JBrowse link
G Pir pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,740,428...33,851,049
Ensembl chr  X:30,108,538...30,219,218 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:33,704,582...33,740,305
Ensembl chr  X:30,074,163...30,108,295 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:34,179,279...34,201,989
Ensembl chr  X:30,547,536...30,570,125 		JBrowse link
nephrogenic syndrome of inappropriate antidiuresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis		 OMIM
CTD
ClinVar		 PMID:1303257 PMID:7920187 PMID:7984150 PMID:8037205 PMID:8104196 More... NCBI chr  X:156,785,009...156,787,477
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
non-syndromic X-linked intellectual disability 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 100 OMIM
ClinVar		 PMID:24812067 PMID:25741868 PMID:28492532 PMID:34346154 PMID:36474027 NCBI chr  X:69,761,803...69,864,335
Ensembl chr  X:65,721,779...65,824,139 		JBrowse link
non-syndromic X-linked intellectual disability 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 101 | ClinVar Annotator: match by term: MID2-related condition OMIM
ClinVar		 PMID:24115387 PMID:25741868 PMID:28492532 NCBI chr  X:109,143,057...109,245,257
Ensembl chr  X:104,355,316...104,453,473 		JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 101 ClinVar PMID:25741868 NCBI chr  X:12,261,633...12,399,780
Ensembl chr  X:9,588,825...9,696,711 		JBrowse link
non-syndromic X-linked intellectual disability 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl15 kelch-like family member 15 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 | ClinVar Annotator: match by term: KLHL15-related condition OMIM
ClinVar		 PMID:24817631 PMID:25644381 PMID:25741868 PMID:28492532 NCBI chr  X:62,987,762...63,043,980
Ensembl chr  X:58,995,461...59,046,069 		JBrowse link
non-syndromic X-linked intellectual disability 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 ClinVar NCBI chr  X:28,525,912...29,062,344
Ensembl chr  X:24,953,464...25,488,663 		JBrowse link
G Frmpd4 FERM and PDZ domain containing 4 ISO ClinVar Annotator: match by term: FRMPD4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 OMIM
ClinVar		 PMID:25644381 PMID:25741868 PMID:26394714 PMID:28492532 PMID:29267967 More... NCBI chr  X:25,853,849...26,814,642
Ensembl chr  X:25,853,934...26,814,637 		JBrowse link
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 ClinVar NCBI chr  X:29,210,388...29,228,060
Ensembl chr  X:25,637,804...25,655,697 		JBrowse link
non-syndromic X-linked intellectual disability 105 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 | ClinVar Annotator: match by term: USP27X-related condition OMIM
ClinVar		 PMID:25644381 PMID:25741868 PMID:28492532 PMID:38182161 NCBI chr  X:17,795,506...17,798,741
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
non-syndromic X-linked intellectual disability 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: IL1RAPL1-related condition | ClinVar Annotator: match by term: IL1RAPL1-related disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 | ClinVar Annotator: match by term: Mental retardation, X-linked 21/34 OMIM
ClinVar		 PMID:8230164 PMID:10471494 PMID:16470793 PMID:18801879 PMID:19012350 More... NCBI chr  X:55,322,779...56,827,486
Ensembl chr  X:51,378,215...52,876,772 		JBrowse link
non-syndromic X-linked intellectual disability 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak3 p21 (RAC1) activated kinase 3 ISO
ISS		 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47 | ClinVar Annotator: match by term: PAK3-related condition
OMIM:300558
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8826460 PMID:9332663 PMID:9731525 PMID:10946356 PMID:12884430 More... NCBI chr  X:111,912,967...112,171,037
Ensembl chr  X:107,260,898...107,368,314 		JBrowse link
non-syndromic X-linked intellectual disability 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 46 ClinVar PMID:11017088 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
non-syndromic X-linked intellectual disability 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspan7 tetraspanin 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 | ClinVar Annotator: match by term: TSPAN7-related condition		 OMIM
CTD
ClinVar		 PMID:10655063 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 NCBI chr  X:14,881,327...14,978,627
Ensembl chr  X:12,208,783...12,306,131 		JBrowse link
non-syndromic X-linked intellectual disability 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO
ISS		 ClinVar Annotator: match by term: FTSJ1-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9
OMIM:309549
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8288232 PMID:10398246 PMID:15162322 PMID:15342698 PMID:17221867 More... NCBI chr  X:16,915,087...16,929,426
Ensembl chr  X:14,244,050...14,252,030 		JBrowse link
non-syndromic X-linked intellectual disability 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: DLG3-related disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90 OMIM
ClinVar		 PMID:15185169 PMID:18414213 PMID:23020937 PMID:24721225 PMID:25741868 More... NCBI chr  X:69,899,694...69,951,928
Ensembl chr  X:65,860,172...65,910,322 		JBrowse link
non-syndromic X-linked intellectual disability 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: BRWD3-related condition | ClinVar Annotator: match by term: BRWD3-related disorder | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY | ClinVar Annotator: match by term: X-linked intellectual developmental disorder-93
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7943039 PMID:17668385 PMID:18414213 PMID:23425632 PMID:24462886 More... NCBI chr  X:77,843,766...77,937,240
Ensembl chr  X:73,774,340...73,861,622 		JBrowse link
non-syndromic X-linked intellectual disability 96 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syp synaptophysin ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 OMIM
ClinVar		 PMID:19377476 PMID:23966691 PMID:25741868 NCBI chr  X:17,521,348...17,536,449
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
non-syndromic X-linked intellectual disability 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 ClinVar PMID:25741868 NCBI chr  X:24,350,708...24,480,798
Ensembl chr  X:20,873,795...21,001,262 		JBrowse link
G Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 ClinVar PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 1:105,030,035...105,032,866
Ensembl chr 1:95,893,457...95,897,243 		JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: USP9X-related disorder | ClinVar Annotator: match by term: USP9X-related neurodevelopmental disorder OMIM
ClinVar		 PMID:19377476 PMID:24607389 PMID:25741868 PMID:25763846 PMID:26833328 More... NCBI chr  X:12,261,633...12,399,780
Ensembl chr  X:9,588,825...9,696,711 		JBrowse link
non-syndromic X-linked intellectual disability ARX-related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87 | ClinVar Annotator: match by term: Mental retardation, X-linked 52
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:62,010,097...62,022,009
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
Norrie disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 ISS
ISO		 OMIM:310600
ClinVar Annotator: match by term: Fetal iritis syndrome		 MouseDO
ClinVar		 PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:143,280,065...143,285,724 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO
ISS		 ClinVar Annotator: match by term: Atrophia bulborum hereditaria
OMIM:310600
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 More... NCBI chr  X:8,379,569...8,404,019
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Fetal iritis syndrome ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:152,815,301...152,835,005
Ensembl chr 1:143,401,396...143,422,091 		JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 PMID:25741868 NCBI chr 4:51,279,562...51,355,030
Ensembl chr 4:50,313,772...50,389,246 		JBrowse link
nuclear type mitochondrial complex I deficiency 12 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: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 OMIM
ClinVar		 PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 More... NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
nuclear type mitochondrial complex I deficiency 30 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: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 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
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome
CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.2553+3A>C (mouse)
DNA:transversion:intron:g.IVS10+3A>T (human)		 OMIM
ClinVar
CTD
RGD		 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:9880610 More... RGD:11340205, RGD:11252184 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
oculocerebrorenal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457 		JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:132,058,739...132,091,518
Ensembl chr  X:127,203,823...127,213,391 		JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome | ClinVar Annotator: match by term: Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8504307 PMID:9199559 PMID:9430698 PMID:9536098 PMID:9632163 More... NCBI chr  X:131,955,775...132,018,298
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:123,978,010...123,979,928
Ensembl chr  X:123,977,985...123,979,942 		JBrowse link
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:132,204,717...132,219,421
Ensembl chr  X:127,326,859...127,341,519 		JBrowse link
G Smarca1 SNF2 related chromatin remodeling ATPase 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:126,980,201...127,066,385
Ensembl chr  X:126,994,947...127,066,347 		JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:132,165,696...132,194,937
Ensembl chr  X:127,287,979...127,317,223 		JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:132,230,243...132,266,139
Ensembl chr  X:127,352,345...127,388,245 		JBrowse link
Opitz GBBB syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO
ISS		 ClinVar Annotator: match by term: MID1-related condition | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM:300000
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 More... NCBI chr  X:27,678,248...28,053,049
Ensembl chr  X:24,120,293...24,248,353 		JBrowse link
osteogenesis imperfecta type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19 OMIM
ClinVar		 PMID:25741868 PMID:27380894 NCBI chr  X:41,225,956...41,290,030
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19 ClinVar PMID:25741868 NCBI chr  X:41,253,481...41,257,103
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
Paganini-Miozzo syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: HS6ST2-related condition | ClinVar Annotator: match by term: Paganini-Miozzo syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30471091 NCBI chr  X:135,887,224...136,182,388
Ensembl chr  X:130,968,385...131,261,492 		JBrowse link
partial androgen insensitivity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome | ClinVar Annotator: match by term: Reifenstein syndrome OMIM
ClinVar		 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1598912 PMID:2010552 More... NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Partial androgen insensitivity syndrome ClinVar PMID:19223936 PMID:21204792 PMID:22967285 PMID:23408573 PMID:25741868 More... NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
Partington syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome
DNA:duplication:exon:c.428-451dup (human)		 OMIM
CTD
ClinVar
RGD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... RGD:11565843 NCBI chr  X:62,010,097...62,022,009
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,219,014...99,220,518
Ensembl chr  X:99,219,014...99,220,958 		JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:104,064,896...104,066,425
Ensembl chr  X:99,273,161...99,274,800 		JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:100,449,298...100,454,452 JBrowse link
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:100,384,230...100,419,935
Ensembl chr  X:100,384,225...100,414,938 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:15192806 PMID:25741868 PMID:28492532 PMID:31319225 NCBI chr10:44,462,203...44,470,924
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein-like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:100,961,509...102,271,753
Ensembl chr  X:100,961,812...102,271,753 		JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:52,373,939...52,413,284
Ensembl chr18:50,175,874...50,214,502 		JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:104,874,850...104,885,946
Ensembl chr  X:100,082,404...100,093,728 		JBrowse link
G Plp1 proteolipid protein 1 ISO
ISS		 ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild
OMIM:312080
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A246T (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1047279 PMID:1376553 PMID:1376966 PMID:1384324 PMID:1605230 More... RGD:1358783, RGD:1358559 NCBI chr  X:104,933,921...104,993,317
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild ClinVar PMID:1047279 PMID:1376553 PMID:1376966 PMID:1384324 PMID:1605230 More... NCBI chr  X:105,013,178...105,023,872
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Slc25a53 solute carrier family 25, member 53 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:100,306,917...100,319,662
Ensembl chr  X:100,306,915...100,319,863 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:104,850,775...104,852,724
Ensembl chr  X:100,058,132...100,060,551 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:104,802,966...104,804,926
Ensembl chr  X:100,010,690...100,012,654
Ensembl chr  X:100,010,690...100,012,654 		JBrowse link
G Tceal5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,204,422...99,207,373
Ensembl chr  X:99,204,429...99,207,353 		JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,228,405...99,230,551
Ensembl chr  X:99,228,458...99,230,543 		JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,171,307...99,173,377
Ensembl chr  X:99,171,177...99,173,710 		JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,245,645...99,247,720
Ensembl chr  X:99,228,458...99,247,763 		JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO
ISS		 ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy | ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY
ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: ACOX1-related disorder | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
OMIM:264470
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chr10:101,905,083...101,930,136
Ensembl chr10:101,406,197...101,431,232 		JBrowse link
G Fbf1 Fas binding factor 1 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,375,769...101,401,624
Ensembl chr10:101,375,775...101,401,644 		JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G H3f3b H3.3 histone B ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,755,404...101,764,616
Ensembl chr10:101,256,480...101,258,709
Ensembl chr13:101,256,480...101,258,709 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Mrpl38 mitochondrial ribosomal protein L38 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,864,242...101,871,048
Ensembl chr10:101,365,353...101,372,171 		JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:8040306 PMID:17458872 PMID:25741868 PMID:28492532 NCBI chr10:101,431,328...101,455,105
Ensembl chr10:101,431,328...101,453,052 		JBrowse link
G Trim47 tripartite motif-containing 47 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,836,465...101,840,936
Ensembl chr10:101,337,573...101,342,044 		JBrowse link
G Trim65 tripartite motif-containing 65 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,847,822...101,863,052
Ensembl chr10:101,357,937...101,364,971 		JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,795,652...101,810,409
Ensembl chr10:101,296,776...101,311,687 		JBrowse link
G Unk unk zinc finger ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,265,732...101,295,950
Ensembl chr10:101,265,703...101,295,967 		JBrowse link
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY ClinVar PMID:28492532 NCBI chr10:101,811,308...101,819,766
Ensembl chr10:101,312,446...101,320,736 		JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:25741868 NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213 		JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,472,879...157,500,496
Ensembl chr 4:155,800,887...155,827,390 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:157,412,692...157,423,484 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,080,495...159,097,066
Ensembl chr 4:157,394,200...157,410,134 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:156,075,389...156,084,701 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,716,932...159,721,823
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:157,668,878...157,695,191 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,321,203...159,325,072
Ensembl chr 4:157,634,928...157,638,799 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008 		JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817 		JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:158,148,434...158,171,933
Ensembl chr 4:156,462,742...156,486,240 		JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848 		JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:158,292,624...158,298,607
Ensembl chr 4:156,607,614...156,612,767 		JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:158,225,100...158,244,722
Ensembl chr 4:156,539,408...156,558,605
Ensembl chr 4:156,539,408...156,558,605 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,017,795...159,051,069
Ensembl chr 4:157,331,494...157,364,769 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,452,878...159,478,878
Ensembl chr 4:157,766,588...157,773,948 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,523,426...157,526,810
Ensembl chr 4:155,815,296...155,854,861
Ensembl chr 5:155,815,296...155,854,861 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Fam90a1a family with sequence similarity 90 member A1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,718,990...157,745,468
Ensembl chr 4:156,046,969...156,073,518 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,503,547...157,507,923
Ensembl chr 4:155,830,909...155,835,937 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,662,200...157,668,341
Ensembl chr 4:157,662,200...157,668,121 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,237,562...159,239,223 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302 		JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,528,183...159,536,762
Ensembl chr 4:157,841,951...157,850,265 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,398,930...159,407,001
Ensembl chr 4:157,712,667...157,720,404 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,556,735...159,570,216
Ensembl chr 4:157,881,796...157,882,950 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,154,690...159,196,176
Ensembl chr 4:157,468,290...157,509,880 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,267,572...159,277,764
Ensembl chr 4:157,581,291...157,591,860 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,795,115...159,801,571
Ensembl chr 4:158,108,886...158,121,539 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,399,919...157,422,448
Ensembl chr 4:155,727,925...155,750,458 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,209,525...159,209,618
Ensembl chr 4:157,523,239...157,523,332 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,209,965...159,210,033 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,677,988...159,681,650
Ensembl chr 4:157,992,408...157,995,414 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,615,687...157,623,061
Ensembl chr 4:155,943,737...155,951,116 		JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,655,051...159,677,938
Ensembl chr 4:157,968,815...157,992,020 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,332,514...159,348,428
Ensembl chr 4:157,646,243...157,662,035 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B OMIM
ClinVar		 PMID:7719337 PMID:9536098 PMID:10462504 PMID:16199547 PMID:17532062 More... NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,203,948...159,208,561
Ensembl chr 4:157,517,577...157,522,272 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,482,678...159,491,085
Ensembl chr 4:157,798,808...157,804,842 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,408,647...159,412,837
Ensembl chr 4:157,722,386...157,727,009 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:157,526,035...157,550,984 		JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,298,362...159,301,568
Ensembl chr 4:157,613,401...157,615,284 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,707,686...159,715,137 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,305,927...159,321,345
Ensembl chr 4:157,619,643...157,634,711 		JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,698,894...159,705,582
Ensembl chr 4:158,012,663...158,019,349 		JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,496,481...159,526,010
Ensembl chr 4:157,810,352...157,839,766 		JBrowse link
phosphoglycerate kinase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
phosphoribosylpyrophosphate synthetase superactivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity		 OMIM
CTD
ClinVar		 PMID:171280 PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 More... NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
Prieto syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnk3 WNK lysine deficient protein kinase 3 ISO ClinVar Annotator: match by term: Prieto syndrome | ClinVar Annotator: match by term: WNK3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3121220 PMID:25741868 PMID:26350204 PMID:35678782 NCBI chr  X:23,599,278...23,742,290
Ensembl chr  X:20,157,041...20,296,821 		JBrowse link
primary ovarian insufficiency 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: POF1B-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15459172 PMID:16773570 PMID:25741868 PMID:28492532 NCBI chr  X:81,875,348...81,942,046
Ensembl chr  X:77,683,128...77,749,688 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Premature ovarian failure 2B ClinVar PMID:25741868 NCBI chr  X:77,646,300...77,679,398
Ensembl chr  X:77,646,558...77,678,045 		JBrowse link
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement ClinVar NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
G Cldn19 claudin 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CLDN19-related condition | ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement		 OMIM
CTD
ClinVar		 PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
Renpenning syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pqbp1 polyglutamine binding protein 1 ISO
ISS		 ClinVar Annotator: match by term: PQBP1-related condition | ClinVar Annotator: match by term: Renpenning syndrome
OMIM:309500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:6711604 PMID:9545405 PMID:13981686 PMID:14634649 PMID:15024694 More... NCBI chr  X:17,275,445...17,280,018
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Renpenning syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32903913 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
retinitis pigmentosa 23 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: Retinitis Pigmentosa 23 | ClinVar Annotator: match by term: Retinitis pigmentosa 23 OMIM
ClinVar		 PMID:10892847 PMID:12595504 PMID:18546297 PMID:22619378 PMID:25741868 More... NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: CCDC22-related condition | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 OMIM
ClinVar		 PMID:19377476 PMID:21826058 PMID:23563313 PMID:24916641 PMID:25644381 More... NCBI chr  X:17,570,184...17,582,130
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
severe congenital encephalopathy due to MECP2 mutation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,787,566...156,802,841
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,785,009...156,787,477
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,548,911...156,581,002
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr10:64,144,560...64,145,723
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,208,230...157,216,812
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,503,237...156,507,162
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,317,993...157,326,640
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,246,533...157,253,650
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,306,320...156,331,940
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:10986043 PMID:12180070 PMID:14560307 PMID:14974082 PMID:15351775 More... NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,289,497...157,290,920
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly		 CTD
ClinVar
OMIM		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:1402105 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,681,717...156,712,031
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,266,986...157,282,896
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,645,505...156,660,011
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,520,751...156,524,828
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,254,009...156,259,971
Ensembl chr  X:151,103,755...151,106,037 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,306,043...157,309,849
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,536,017...156,545,321
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15351775 PMID:15689435 PMID:15841480 PMID:16080119 More... NCBI chr  X:156,675,658...156,679,545
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,216,826...157,230,524
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,303,203...156,304,811
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:157,302,528...157,305,380
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532 NCBI chr  X:156,268,220...156,293,790
Ensembl chr  X:151,117,102...151,143,177 		JBrowse link
Shukla-Vernon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: BCORL1-related condition | ClinVar Annotator: match by term: Shukla-Vernon syndrome OMIM
ClinVar		 PMID:23092983 PMID:24047651 PMID:24896186 PMID:25596268 PMID:25741868 More... NCBI chr  X:132,394,703...132,462,414
Ensembl chr  X:127,537,538...127,584,087 		JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 onset ISO ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)		 OMIM
ClinVar
CTD
RGD		 PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More... RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:19,463,171...19,486,519 		JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:19,425,684...19,508,459
Ensembl chr  X:19,487,419...19,508,439 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332 		JBrowse link
Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc3 glypican 3 ISO
ISS		 ClinVar Annotator: match by term: GPC3-related condition | ClinVar Annotator: match by term: SIMPSON DYSMORPHIA SYNDROME | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1
OMIM:312870
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9950367 PMID:10402475 PMID:10814714 PMID:12713262 PMID:16158429 More... RGD:243065142 NCBI chr  X:136,789,770...137,157,598
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:136,565,536...136,676,142
Ensembl chr  X:131,644,704...131,755,284 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 ClinVar PMID:25741868 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome ClinVar PMID:12595504 PMID:18546297 PMID:25741868 NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 4:106,211,459...106,220,222
Ensembl chr 4:104,653,155...104,668,310 		JBrowse link
Simpson-Golabi-Behmel syndrome type 2 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: Simpson-Golabi-Behmel syndrome type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11179005 PMID:12595504 PMID:16783569 PMID:18546297 PMID:19800048 More... NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
syndactyly type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf16 fibroblast growth factor 16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndactyly type 8		 OMIM
CTD
ClinVar		 PMID:23709756 PMID:24878828 NCBI chr  X:74,882,863...74,893,598
Ensembl chr  X:70,817,433...70,878,717 		JBrowse link
syndromic X-linked intellectual disability 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked, syndromic, 35 ClinVar
OMIM		 PMID:7626060 PMID:18258260 PMID:25316788 PMID:25741868 PMID:25846674 More... NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO
ISS		 ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome
OMIM:304340
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:34,204,601...34,230,819
Ensembl chr  X:30,572,751...30,597,262 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:122,154,332...122,192,299
Ensembl chr  X:117,287,484...117,326,688 		JBrowse link
syndromic X-linked intellectual disability Claes-Jensen type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type ClinVar PMID:2563148 PMID:25741868 PMID:26235985 NCBI chr  X:12,152,346...12,165,983
Ensembl chr  X:9,479,532...9,493,168 		JBrowse link
G Kdm5c lysine demethylase 5C ISO
ISS		 ClinVar Annotator: match by term: KDM5C-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type
OMIM:300534
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:c.2T>C (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1605217 PMID:10982473 PMID:15586325 PMID:16538222 PMID:16541399 More... RGD:9587779 NCBI chr  X:24,821,568...24,866,423
Ensembl chr  X:21,345,481...21,381,870 		JBrowse link
syndromic X-linked intellectual disability Siderius type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf8 PHD finger protein 8 ISO
ISS		 ClinVar Annotator: match by term: PHF8-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type
OMIM:300263
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:10398231 PMID:16199551 PMID:17594395 PMID:17661819 PMID:25741868 More... NCBI chr  X:23,967,126...24,066,473
Ensembl chr  X:20,524,558...20,623,410 		JBrowse link
syndromic X-linked intellectual disability Snyder type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sms spermine synthase ISO ClinVar Annotator: match by term: SMS-related disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5823961 PMID:14508504 PMID:18550699 PMID:19206178 PMID:19377476 More... NCBI chr  X:41,331,693...41,387,713
Ensembl chr  X:37,516,931...37,570,822
Ensembl chr 3:37,516,931...37,570,822 		JBrowse link
syndromic X-linked intellectual disability Turner type 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, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr  X:152,972,579...153,477,080
Ensembl chr  X:147,928,407...148,429,995 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr 5:166,791,639...167,639,502
Ensembl chr 5:161,510,283...162,356,723 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6107045 PMID:7943042 PMID:7943044 PMID:16700052 PMID:18252223 More... NCBI chr  X:24,350,708...24,480,798
Ensembl chr  X:20,873,795...21,001,262 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
syndromic X-linked intellectual disorder Lujan-Fryns-type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, with marfanoid habitus | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.N1007S(human)		 OMIM
ClinVar
CTD
RGD		 PMID:6711603 PMID:10405444 PMID:16199547 PMID:17334363 PMID:17369503 More... RGD:12910949 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
Van Esch-O'Driscoll syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Van Esch-O'Driscoll syndrome | ClinVar Annotator: match by term: X-linked intellectual disability, van Esch type OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27019227 PMID:28492532 More... NCBI chr  X:62,028,475...62,342,455
Ensembl chr  X:58,034,619...58,348,536 		JBrowse link
visceral heterotaxy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:139,592,794...139,652,290
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:139,972,742...139,986,923
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:140,342,544...140,352,121
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:139,468,045...139,524,111
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chr  X:141,159,623...141,165,587
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
Waisman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome ClinVar PMID:25434005 NCBI chr20:154,630...169,655
Ensembl chr20:148,907...164,355 		JBrowse link
Wieacker-Wolff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability | ClinVar Annotator: match by term: ZC4H2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
Wilson-Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac8 histone deacetylase 8 ISO DNA:snp:intron:c.164+5G>A (human) RGD PMID:22889856 RGD:13208817 NCBI chr  X:71,425,240...71,632,865
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LAS1L-related condition | ClinVar Annotator: match by term: Wilson-Turner syndrome		 OMIM
CTD
ClinVar		 PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687 		JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wilson-Turner syndrome ClinVar NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
Wiskott-Aldrich syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:18,107,256...18,117,549
Ensembl chr  X:15,435,410...15,445,684 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:18,840,943...18,846,006
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 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: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,570,184...17,582,130
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:18,149,915...18,214,801
Ensembl chr  X:15,478,065...15,542,885 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:18,253,849...18,385,805
Ensembl chr  X:15,583,572...15,712,987 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 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 ISS
ISO		 OMIM:301000 | OMIM:614493
ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1		 MouseDO
ClinVar		 PMID:28492532 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 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: WISKOTT-ALDRICH SYNDROME 1 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: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,350,817...17,380,626
Ensembl chr  X:14,678,898...14,708,679 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,222,538...17,244,373
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: WISKOTT-ALDRICH SYNDROME 1 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: WISKOTT-ALDRICH SYNDROME 1 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: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,930,647...17,930,726
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,919,185...17,919,263
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:16,326,775...16,333,396
Ensembl chr  X:16,326,598...16,333,145 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,296,750...17,331,257
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: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,251,963...17,255,405
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: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,289,509...17,294,778
Ensembl chr  X:14,617,582...14,622,851 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,506,153...17,509,552
Ensembl chr  X:14,834,231...14,838,514 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,581,467...17,617,087
Ensembl chr  X:14,929,323...14,945,193 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,275,445...17,280,018
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 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: WISKOTT-ALDRICH SYNDROME 1 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: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,020,863...17,024,341
Ensembl chr  X:14,348,910...14,353,580 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:18,537,371...18,748,665
Ensembl chr  X:15,869,065...16,076,869 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 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: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,093,059...17,105,942
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: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:146,828,818...146,831,485 JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,521,348...17,536,449
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:16,986,629...17,010,228
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: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,401,466...17,414,829
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: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,268,257...17,275,424
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: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,795,506...17,798,741
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
G Was WASP actin nucleation promoting factor ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:301000
ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME, ATTENUATED | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:2906042 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7735919 More... RGD:1599803 NCBI chr  X:17,077,057...17,085,802
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
G Washc4 WASH complex subunit 4 ISS OMIM:301000 MouseDO NCBI chr 7:22,075,546...22,127,847
Ensembl chr 7:20,187,922...20,240,226 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:14,362,484...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: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,448,195...17,454,117
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:78,721,486...78,824,199
Ensembl chr 3:58,314,542...58,372,742 		JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome ClinVar PMID:10069711 PMID:10220139 PMID:16786514 PMID:18414213 PMID:19824023 More... NCBI chr16:65,466,552...65,602,951
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 ClinVar PMID:28492532 NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22231303 PMID:24033266 PMID:25741868 More... NCBI chr 3:78,721,486...78,824,199
Ensembl chr 3:58,314,542...58,372,742 		JBrowse link
X-linked Aarskog syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders
DNA:deletion:cds:c.2189delA (human)
DNA:nonsense mutation:cds:p.W447X (human)
DNA:mutations:multiple (human)
DNA:insertion:cds:c.2121_2122insG (human)		 OMIM
ClinVar
RGD		 PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More... RGD:11554031, RGD:11554030, RGD:11554029, RGD:11554024 NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:20,023,746...20,066,566 		JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-Related Disorders ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620 		JBrowse link
X-linked adrenal hypoplasia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Fthl17a ferritin, heavy polypeptide-like 17, member A ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:53,547,274...53,548,251
Ensembl chr  X:49,595,718...49,596,266 		JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:54,106,708...54,189,940
Ensembl chr  X:50,163,123...50,238,631 		JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:55,322,779...56,827,486
Ensembl chr  X:51,378,215...52,876,772 		JBrowse link
G Mageb1 MAGE family member B1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:54,866,557...54,872,631 JBrowse link
G Mageb2 MAGE family member B2 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:54,778,318...54,784,040
Ensembl chr  X:50,827,563...50,833,151 		JBrowse link
G Mageb3 MAGE family member B3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:54,816,254...54,817,249
Ensembl chr  X:50,865,484...50,866,479 		JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO
ISS		 ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
OMIM:300200		 OMIM
ClinVar
MouseDO		 PMID:6891556 PMID:7609262 PMID:7990953 PMID:7990958 PMID:8636263 More... NCBI chr  X:54,707,658...54,711,786
Ensembl chr  X:50,756,886...50,761,011 		JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:53,923,473...53,995,777
Ensembl chr  X:49,972,330...50,042,056 		JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:54,354,755...54,373,930
Ensembl chr  X:50,361,248...50,423,269 		JBrowse link
X-linked agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ameliorates ISO
ISS		 ClinVar Annotator: match by term: X-linked agammaglobulinemia
OMIM:300755
CTD Direct Evidence: marker/mechanism
Human gene in mouse model
human gene in a mouse model
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 PMID:7627183 More... RGD:124715475, RGD:124713551, RGD:11040698, RGD:11040588 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:300310 | OMIM:300755 MouseDO NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia ClinVar PMID:25741868 NCBI chr  X:102,011,206...102,015,444
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
X-linked atrophic macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic OMIM
ClinVar		 PMID:8673101 PMID:12160730 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
X-linked chondrodysplasia punctata 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsl arylsulfatase L ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1557308 PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 More... NCBI chr 2:119,038,803...119,047,579
Ensembl chr 2:119,038,921...119,046,846 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
X-linked chronic granulomatous disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:28492532 NCBI chr19:67,396,143...67,404,214
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cybb cytochrome b-245 beta chain treatment ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant
DNA:deletion:cds:
DNA:missense mutations:exons:1558T>C,937G>A,1271T>C,313C>T(human)		 OMIM
ClinVar
RGD		 PMID:1347621 PMID:1438069 PMID:1520880 PMID:1710153 PMID:1719419 More... RGD:11040567, RGD:11040562, RGD:11040560 NCBI chr  X:16,030,596...16,065,065
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139 		JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:12,907,962...12,908,516 JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED ClinVar PMID:25741868 NCBI chr12:28,121,816...28,131,080
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:15,126,358...15,202,473
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:15,349,498...15,420,389
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:15,461,215...15,702,660
Ensembl chr  X:12,788,698...13,030,175 		JBrowse link
G Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:8634410 PMID:9585602 PMID:20729109 PMID:22929960 PMID:27701760 More... NCBI chr  X:16,108,913...16,145,322
Ensembl chr  X:13,436,418...13,472,830 		JBrowse link
X-linked chronic idiopathic intestinal pseudo-obstruction 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: CIIP X-linked | ClinVar Annotator: match by term: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
X-linked cone-rod dystrophy 3 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: X-linked cone-rod dystrophy 3
CTD Direct Evidence: marker/mechanism
DNA:mutation:intron: IVS28¿¿¿1 GCGTC>TGG(human)		 OMIM
ClinVar
CTD
RGD		 PMID:9662399 PMID:11281458 PMID:15897456 PMID:16199547 PMID:17525176 More... RGD:13782380 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
X-linked congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: ATP11C-related condition | ClinVar Annotator: match by term: X-linked congenital hemolytic anemia OMIM
ClinVar		 PMID:25741868 PMID:26944472 PMID:28492532 NCBI chr  X:143,600,763...143,788,407
Ensembl chr  X:138,565,836...138,751,204 		JBrowse link
X-linked deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:29625556 More... NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:29625556 More... NCBI chr  X:132,572,133...132,584,255
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
X-linked distal spinal muscular atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO
ISS		 ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE
OMIM:300489
CTD Direct Evidence: marker/mechanism
knock in;DNA:missense mutation:cds:p.T985I (mouse)
DNA:missense mutations:cds:p.P1386S, p.T994I (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:10570920 PMID:11241493 PMID:14985388 PMID:16083905 PMID:16199547 More... RGD:11340198, RGD:11252181 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
X-linked dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES OMIM
ClinVar		 PMID:871527 PMID:9536098 PMID:12200364 PMID:14691578 PMID:15895080 More... NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
X-linked dyskeratosis congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: DKC1-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked OMIM
ClinVar		 PMID:768476 PMID:1361371 PMID:3009302 PMID:7607282 PMID:9042917 More... NCBI chr  X:157,751,651...157,757,796 JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked | ClinVar Annotator: match by term: Zinsser-Cole-Engman Syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23959892 PMID:25741868 PMID:26847928 More... NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
X-linked dystonia-parkinsonism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf1 TATA-box binding protein associated factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TAF1-related condition | ClinVar Annotator: match by term: X-linked dystonia-parkinsonism		 OMIM
CTD
ClinVar		 PMID:17273961 PMID:25741868 PMID:28492532 PMID:32396742 NCBI chr  X:70,680,901...70,756,535
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emd emerin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures		 OMIM
ClinVar		 PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 More... NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:262236 PMID:2733290 PMID:9536098 PMID:11102973 PMID:11503164 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chr12:20,510,230...20,555,123
Ensembl chr12:15,396,381...15,441,571 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:28492532 NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:18179888 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 More... NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:18179888 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 More... NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:18179888 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 More... NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:25741868 NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 6 | ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy OMIM
ClinVar		 PMID:2663542 PMID:7722535 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr  X:139,592,794...139,652,290
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:18179888 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 More... NCBI chr  X:139,972,742...139,986,923
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:18179888 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 More... NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:25741868 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:18179888 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 More... NCBI chr  X:134,979,657...134,996,007 JBrowse link
X-linked hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:25741868 PMID:29884852 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:139,592,794...139,652,290
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:139,972,742...139,986,923
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:140,342,544...140,352,121
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:139,468,045...139,524,111
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Ung uracil-DNA glycosylase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr12:48,145,838...48,154,789
Ensembl chr12:42,485,276...42,494,206 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:141,159,623...141,165,587
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
X-linked ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Recessive X-linked ichthyosis ClinVar PMID:3007328 PMID:7208152 PMID:18413370 PMID:25741868 NCBI chr  X:42,313,554...42,318,451
Ensembl chr  X:42,305,373...42,318,552 		JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Recessive X-linked ichthyosis ClinVar PMID:3007328 PMID:7208152 PMID:18413370 PMID:25741868 PMID:31690835 NCBI chr18:43,878,374...43,880,756
Ensembl chr18:43,878,080...43,880,791 		JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis | ClinVar Annotator: match by term: STS-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1539590 PMID:2668275 PMID:3007328 PMID:3032454 PMID:7208152 More... NCBI chr  X:46,102,524...46,110,868
Ensembl chr  X:42,225,372...42,233,402 		JBrowse link
X-Linked immunodeficiency 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr7 toll-like receptor 7 ISO ClinVar Annotator: match by term: Immunodeficiency 74, COVID-19-related, X-linked | ClinVar Annotator: match by term: TLR7-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32706371 NCBI chr  X:30,644,324...30,670,796
Ensembl chr  X:27,027,425...27,054,754 		JBrowse link
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:75,149,036...75,155,285
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 More... NCBI chr  X:75,104,040...75,145,247
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
X-linked intellectual developmental disorder 108 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: Intellectual developmental disorder, X-linked 108 ClinVar PMID:25741868 NCBI chr  X:24,734,202...24,816,566
Ensembl chr  X:21,254,914...21,336,584 		JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 108 | ClinVar Annotator: match by term: SLC9A7-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30335141 NCBI chr  X:2,214,064...2,395,052
Ensembl chr  X:2,214,441...2,388,012 		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: AFF2-related condition | ClinVar Annotator: match by term: FRAXE Syndrome | 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:152,972,579...153,477,080
Ensembl chr  X:147,928,407...148,429,995 		JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: FRAXE Syndrome ClinVar PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 More... NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
X-linked intellectual disability-short stature-overweight syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome ClinVar PMID:19471582 PMID:22995991 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332 		JBrowse link
G Thoc2 THO complex subunit 2 ISO
ISS		 ClinVar Annotator: match by term: THOC2-related condition | ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome
OMIM:300957		 OMIM
ClinVar
MouseDO		 PMID:1605217 PMID:8825049 PMID:25741868 PMID:26166480 PMID:28492532 More... NCBI chr  X:125,500,549...125,615,139
Ensembl chr  X:120,634,968...120,749,513 		JBrowse link
X-linked juvenile retinoschisis 1 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: RS1-related condition ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:37,566,320...37,796,766
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Rs1 retinoschisin 1 ISO
ISS		 ClinVar Annotator: match by term: RS1-related condition
OMIM:312700		 OMIM
ClinVar
MouseDO		 PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:37,771,135...37,800,894
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
X-linked keratosis follicularis spinulosa decalvans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked		 OMIM
CTD
ClinVar		 PMID:8745901 PMID:20672378 PMID:23316014 PMID:25741868 NCBI chr  X:41,225,956...41,290,030
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked ClinVar PMID:25741868 NCBI chr  X:41,253,481...41,257,103
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
X-linked lymphoproliferative syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO
ISS		 ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked | ClinVar Annotator: match by term: SH2D1A-related condition
OMIM:308240		 OMIM
ClinVar
MouseDO		 PMID:3374620 PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 More... NCBI chr  X:126,239,191...126,267,425 JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 NCBI chr 2:175,610,127...175,616,685
Ensembl chr 2:173,312,253...173,318,810 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:125,756,107...125,803,979
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
X-linked lymphoproliferative syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chr  X:125,103,975...125,369,690
Ensembl chr  X:120,238,534...120,504,096 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chr  X:126,239,191...126,267,425 JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chr  X:125,839,660...125,971,209
Ensembl chr  X:120,974,857...121,105,677 		JBrowse link
G Thoc2 THO complex subunit 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chr  X:125,500,549...125,615,139
Ensembl chr  X:120,634,968...120,749,513 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1543760 PMID:9536098 PMID:16199547 PMID:17080092 PMID:17576681 More... NCBI chr  X:125,756,107...125,803,979
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Olmsted syndrome, X-linked OMIM
ClinVar		 PMID:17367233 PMID:22931912 PMID:25741868 PMID:28492532 NCBI chr  X:41,225,956...41,290,030
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: Olmsted syndrome, X-linked ClinVar PMID:25741868 NCBI chr  X:41,253,481...41,257,103
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
X-linked myopathy with excessive autophagy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More...
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:149,368,900...149,373,486
Ensembl chr  X:149,368,900...149,373,486 		JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:154,341,106...154,346,087
Ensembl chr  X:149,296,375...149,301,292 		JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr 6:6,234,917...6,252,874
Ensembl chr 6:488,969...506,860 		JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541 		JBrowse link
G Vma21 vacuolar ATPase assembly factor VMA21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy		 OMIM
CTD
ClinVar		 PMID:9305655 PMID:9536098 PMID:10063835 PMID:10449925 PMID:15725586 More... NCBI chr  X:154,536,493...154,545,794
Ensembl chr  X:149,491,738...149,499,272 		JBrowse link
X-linked nephrogenic diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp2 aquaporin 2 ISO ClinVar Annotator: match by term: Diabetes insipidus nephrogenic X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:132,590,286...132,595,321
Ensembl chr 7:130,711,413...130,716,468 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO
ISS		 ClinVar Annotator: match by term: AVPR2-related condition | ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked
OMIM:304800		 OMIM
ClinVar
MouseDO		 PMID:1303257 PMID:1303271 PMID:1356229 PMID:4886456 PMID:5309332 More... NCBI chr  X:156,785,009...156,787,477
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
X-linked nephrolithiasis type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 | ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9328929 PMID:9602200 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
X-linked parkinsonism-spasticity syndrome 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: Parkinsonism with spasticity, X-linked | ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome OMIM
ClinVar		 PMID:20629132 PMID:23595882 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:12,856,708...12,883,670
Ensembl chr  X:10,183,068...10,210,918 		JBrowse link
X-linked properdin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfp complement factor properdin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFP-related condition | ClinVar Annotator: match by term: Properdin deficiency, X-linked | ClinVar Annotator: match by term: Properdin deficiency, type II | ClinVar Annotator: match by term: Properdin deficiency, type III		 CTD
ClinVar
OMIM		 PMID:3380115 PMID:7151327 PMID:8530058 PMID:8871668 PMID:9476131 More... NCBI chr  X:3,715,551...3,721,113
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9328929 PMID:9734595 More... NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
X-linked severe combined immunodeficiency 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 severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:70,541,845...70,549,776
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO
IMP		 ClinVar Annotator: match by term: X-linked severe combined immunodeficiency OMIM
ClinVar
RGD		 PMID:2169613 PMID:2984567 PMID:7557965 PMID:7632950 PMID:7668284 More... RGD:2316325 NCBI chr  X:70,435,340...70,439,052
Ensembl chr  X:66,392,542...66,399,823 		JBrowse link
G Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo IMP RGD PMID:20111598 RGD:2316325
G Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo IMP RGD PMID:20111598 RGD:2316325
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:70,612,118...70,617,158
Ensembl chr  X:66,572,537...66,577,174 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:70,469,251...70,497,380
Ensembl chr  X:66,429,458...66,451,876 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:70,594,116...70,611,976
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:70,680,901...70,756,535
Ensembl chr  X:66,640,982...66,716,543 		JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:70,568,573...70,584,221
Ensembl chr  X:66,528,585...66,544,782 		JBrowse link
X-linked severe congenital neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:18,107,256...18,117,549
Ensembl chr  X:15,435,410...15,445,684 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:3,780,932...3,845,919
Ensembl chr  X:1,227,392...1,239,073 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:18,840,943...18,846,006
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia 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: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,570,184...17,582,130
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:18,149,915...18,214,801
Ensembl chr  X:15,478,065...15,542,885 		JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,492,814...1,504,309
Ensembl chr  X:1,492,814...1,504,148 		JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:3,715,551...3,721,113
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:18,253,849...18,385,805
Ensembl chr  X:15,583,572...15,712,987 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chr 7:10,467,877...10,469,725
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:3,692,367...3,709,252
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia 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: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:16,915,087...16,929,426
Ensembl chr  X:14,244,050...14,252,030 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia 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: X-linked severe congenital neutropenia 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: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,350,817...17,380,626
Ensembl chr  X:14,678,898...14,708,679 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Jade3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,668,873...1,848,781
Ensembl chr  X:1,669,930...1,845,138 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia 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: X-linked severe congenital neutropenia 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: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,930,647...17,930,726
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,919,185...17,919,263
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:16,326,775...16,333,396
Ensembl chr  X:16,326,598...16,333,145 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,296,750...17,331,257
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: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,251,963...17,255,405
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: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,289,509...17,294,778
Ensembl chr  X:14,617,582...14,622,851 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,506,153...17,509,552
Ensembl chr  X:14,834,231...14,838,514 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,581,467...17,617,087
Ensembl chr  X:14,929,323...14,945,193 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,275,445...17,280,018
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia 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: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:4,093,914...4,126,060
Ensembl chr  X:1,540,398...1,572,575 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:17,020,863...17,024,341
Ensembl chr  X:14,348,910...14,353,580 		JBrowse link
G Rgn regucalcin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:4,172,537...4,190,112
Ensembl chr  X:1,619,032...1,634,450 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:18,537,371...18,748,665
Ensembl chr  X:15,869,065...16,076,869 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:16,885,701...16,894,470
Ensembl chr  X:14,213,729...14,222,498 		JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:2,214,064...2,395,052
Ensembl chr  X:2,214,441...2,388,012 		JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:3,472,369...3,475,552
Ensembl chr  X:918,817...922,049 		JBrowse link
G Ssx1 SSX family member 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:16,603,888...16,612,203
Ensembl chr  X:13,931,470...13,939,720 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,093,059...17,105,942
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: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:146,828,818...146,831,485 JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:3,725,745...3,780,940
Ensembl chr  X:1,172,208...1,227,396 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,521,348...17,536,449
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:16,986,629...17,010,228
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: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,401,466...17,414,829
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: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,268,257...17,275,424
Ensembl chr  X:14,594,577...14,603,416 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:4,062,216...4,084,192
Ensembl chr  X:1,508,666...1,530,636 		JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:4,026,865...4,043,036
Ensembl chr  X:1,473,350...1,489,520 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,795,506...17,798,741
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
G Uxt ubiquitously-expressed, prefoldin-like chaperone ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:3,679,630...3,691,944
Ensembl chr  X:1,126,162...1,138,663 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:7795648 More... NCBI chr  X:17,077,057...17,085,802
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:14,362,484...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: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:17,448,195...17,454,117
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr12:21,356,253...21,393,006
Ensembl chr12:16,248,230...16,270,698 		JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:927,439...1,001,474
Ensembl chr  X:899,439...1,000,954 		JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,030,103...1,126,078
Ensembl chr  X:1,036,153...1,126,102 		JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human)
ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More... RGD:1598600, RGD:11038735, RGD:11038734 NCBI chr  X:73,361,296...73,502,464
Ensembl chr  X:69,295,552...69,436,858 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar PMID:25741868 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:19,463,171...19,486,519 		JBrowse link
X-linked spermatogenic failure 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 | ClinVar Annotator: match by term: TEX11-related condition OMIM
ClinVar		 PMID:25741868 PMID:25970010 PMID:28492532 NCBI chr  X:69,973,012...70,236,544
Ensembl chr  X:65,932,988...66,196,187 		JBrowse link
X-linked spermatogenic failure 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 3 OMIM
ClinVar		 PMID:25741868 PMID:33472045 NCBI chr  X:47,149,085...47,504,169
Ensembl chr  X:43,263,490...43,616,852 		JBrowse link
X-linked spermatogenic failure 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ct55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 7 OMIM
ClinVar		 PMID:36481789 NCBI chr  X:133,502,545...133,515,730
Ensembl chr  X:133,502,869...133,515,529 		JBrowse link
X-linked spinal muscular atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: AMC, distal, X-linked | ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile | ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 More... NCBI chr  X:4,062,216...4,084,192
Ensembl chr  X:1,508,666...1,530,636 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
X-linked spinocerebellar ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:73,361,296...73,502,464
Ensembl chr  X:69,295,552...69,436,858 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:64,310,492...64,326,377
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:26633542 More... NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:66,969,953...67,209,464
Ensembl chr  X:66,970,151...67,200,911 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:71,639,701...71,778,465
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:111,470,972...111,517,356
Ensembl chr  X:106,714,868...106,719,794 		JBrowse link
X-linked spondyloepimetaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia ClinVar PMID:7825602 PMID:7849723 PMID:8040304 PMID:8651290 PMID:9088111 More... NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8064814 PMID:25741868 PMID:27236923 PMID:27632686 PMID:28492532 More... NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy ClinVar PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:132,572,133...132,584,255
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
X-linked spondyloepiphyseal dysplasia tarda 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: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked | ClinVar Annotator: match by term: TRAPPC2-related condition ClinVar PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 More... NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked | ClinVar Annotator: match by term: TRAPPC2-related condition OMIM
ClinVar		 PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 More... NCBI chr  X:31,617,107...31,647,035
Ensembl chr  X:27,994,054...28,015,346 		JBrowse link
X-linked thrombocytopenia with beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 More... NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 6:78,124,872...78,247,672
Ensembl chr 6:72,389,703...72,512,459 		JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:33,035,387...33,051,993
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chr14:104,449,403...104,515,297
Ensembl chr14:100,248,875...100,314,255 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly		 CTD
ClinVar		 PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:24429398 PMID:25741868 PMID:28492532 NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus		 OMIM
CTD
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:141,159,623...141,165,587
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
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  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            X-linked monogenic disease 1462
              X-linked recessive disease 874
                AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 1
                Aland Island eye disease 3
                Allan-Herndon-Dudley syndrome 1
                Barth syndrome + 62
                Borjeson-Forssman-Lehmann syndrome 1
                Brunner syndrome 3
                CD40 ligand deficiency + 4
                CK syndrome 1
                Charcot-Marie-Tooth disease X-linked recessive 2 0
                Charcot-Marie-Tooth disease X-linked recessive 3 0
                Charcot-Marie-Tooth disease X-linked recessive 4 2
                Charcot-Marie-Tooth disease X-linked recessive 5 1
                Dent disease + 6
                Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 2
                Duchenne muscular dystrophy + 33
                FG syndrome + 14
                Fanconi anemia complementation group B 1
                Galloway-Mowat syndrome 2 1
                HRPT-related hyperuricemia 7
                Holoprosencephaly 13, X-linked 2
                IGSF1 deficiency syndrome 4
                Joubert syndrome 10 2
                Keipert syndrome 1
                Kennedy's disease 2
                Lesch-Nyhan syndrome + 2
                MASA syndrome 3
                MEHMO syndrome 1
                MEND syndrome 1
                Mullegama-Klein-Martinez syndrome 2
                Norrie disease 4
                Opitz GBBB syndrome 1
                Paganini-Miozzo syndrome 1
                Partington syndrome 1
                Pelizaeus-Merzbacher disease + 17
                Prieto syndrome 1
                Renpenning syndrome 2
                Ritscher-Schinzel syndrome 2 1
                Shukla-Vernon syndrome 1
                Simpson-Golabi-Behmel syndrome type 1 5
                Simpson-Golabi-Behmel syndrome type 2 1
                Van Esch-O'Driscoll syndrome 1
                Waisman syndrome 1
                Wieacker-Wolff syndrome 1
                Wilson-Turner syndrome 3
                Wiskott-Aldrich syndrome + 47
                X-Linked immunodeficiency 74 1
                X-linked Aarskog syndrome 2
                X-linked Emery-Dreifuss muscular dystrophy 1 4
                X-linked Emery-Dreifuss muscular dystrophy 6 9
                X-linked VACTERL association 6
                X-linked adrenal hypoplasia congenita 10
                X-linked agammaglobulinemia + 4
                X-linked atrophic macular degeneration 1
                X-linked chondrodysplasia punctata 1 3
                X-linked chronic granulomatous disease 10
                X-linked chronic idiopathic intestinal pseudo-obstruction 1
                X-linked cone-rod dystrophy 3 1
                X-linked congenital hemolytic anemia 1
                X-linked deafness 5 2
                X-linked distal spinal muscular atrophy 3 1
                X-linked dyserythropoietic anemia 1
                X-linked dyskeratosis congenita + 7
                X-linked dystonia-parkinsonism 1
                X-linked hyper IgM syndrome 15
                X-linked ichthyosis + 3
                X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 5
                X-linked intellectual developmental disorder 108 2
                X-linked intellectual developmental disorder 109 2
                X-linked intellectual disability-short stature-overweight syndrome 2
                X-linked juvenile retinoschisis 1 2
                X-linked keratosis follicularis spinulosa decalvans 2
                X-linked lymphoproliferative syndrome 1 4
                X-linked lymphoproliferative syndrome 2 5
                X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
                X-linked myopathy with excessive autophagy 6
                X-linked nephrogenic diabetes insipidus 2
                X-linked nephrolithiasis type I 1
                X-linked parkinsonism-spasticity syndrome 1
                X-linked properdin deficiency 1
                X-linked recessive hypophosphatemic rickets 1
                X-linked severe combined immunodeficiency 12
                X-linked severe congenital neutropenia 66
                X-linked sideroblastic anemia with ataxia 2
                X-linked spermatogenic failure 2 1
                X-linked spermatogenic failure 3 1
                X-linked spermatogenic failure 7 1
                X-linked spinal muscular atrophy 2 2
                X-linked spinocerebellar ataxia 1 7
                X-linked spinocerebellar ataxia 5 0
                X-linked spondyloepimetaphyseal dysplasia + 4
                X-linked spondyloepiphyseal dysplasia tarda 2
                X-linked thrombocytopenia with beta-thalassemia 1
                adrenoleukodystrophy + 146
                blue cone monochromacy 1
                combined oxidative phosphorylation deficiency 6 2
                congenital disorder of glycosylation Icc 1
                congenital disorder of glycosylation Iy 4
                congenital disorder of glycosylation type IIr 1
                congenital nongoitrous hypothyroidism 9 1
                congenital nonspherocytic hemolytic anemia 9 1
                congenital stationary night blindness 1A 1
                congenital stationary night blindness 2A 1
                developmental and epileptic encephalopathy 1 115
                developmental and epileptic encephalopathy 8 4
                ectodermal dysplasia 1 + 3
                factor VIII deficiency + 441
                frontometaphyseal dysplasia 1 1
                glycogen storage disease IXA 17
                glycogen storage disease IXD 2
                glycogen storage disease VIII 1
                hemophilia B 7
                hereditary sensory neuropathy X-linked 0
                hereditary spastic paraplegia 16 0
                hereditary spastic paraplegia 2 6
                hereditary spastic paraplegia 34 0
                hypogonadotropic hypogonadism 1 with or without anosmia 1
                ichthyosis follicularis-alopecia-photophobia syndrome 1 4
                immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 65
                immunodeficiency 102 1
                immunodeficiency 118 1
                immunodeficiency 33 57
                immunodeficiency 34 1
                immunodeficiency 47 2
                immunodeficiency 50 1
                immunodeficiency 98 2
                isolated growth hormone deficiency type III 25
                megalocornea + 2
                methylmalonic acidemia and homocysteinemia cblX type 11
                midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 4
                multiple congenital anomalies-hypotonia-seizures syndrome 2 13
                nephrogenic syndrome of inappropriate antidiuresis 1
                non-syndromic X-linked intellectual disability 100 1
                non-syndromic X-linked intellectual disability 101 2
                non-syndromic X-linked intellectual disability 103 1
                non-syndromic X-linked intellectual disability 104 3
                non-syndromic X-linked intellectual disability 105 1
                non-syndromic X-linked intellectual disability 21 1
                non-syndromic X-linked intellectual disability 30 1
                non-syndromic X-linked intellectual disability 46 1
                non-syndromic X-linked intellectual disability 53 0
                non-syndromic X-linked intellectual disability 58 1
                non-syndromic X-linked intellectual disability 72 0
                non-syndromic X-linked intellectual disability 73 0
                non-syndromic X-linked intellectual disability 77 0
                non-syndromic X-linked intellectual disability 81 0
                non-syndromic X-linked intellectual disability 82 0
                non-syndromic X-linked intellectual disability 84 0
                non-syndromic X-linked intellectual disability 9 1
                non-syndromic X-linked intellectual disability 90 1
                non-syndromic X-linked intellectual disability 92 0
                non-syndromic X-linked intellectual disability 93 1
                non-syndromic X-linked intellectual disability 96 1
                non-syndromic X-linked intellectual disability 99 3
                non-syndromic X-linked intellectual disability ARX-related 1
                nuclear type mitochondrial complex I deficiency 12 1
                nuclear type mitochondrial complex I deficiency 30 1
                occipital horn syndrome 1
                oculocerebrorenal syndrome + 12
                orofaciodigital syndrome VIII 0
                osteogenesis imperfecta type 19 2
                partial androgen insensitivity syndrome 2
                phosphoglycerate kinase 1 deficiency 1
                phosphoribosylpyrophosphate synthetase superactivity 1
                primary ovarian insufficiency 2B 2
                retinitis pigmentosa 23 1
                severe congenital encephalopathy due to MECP2 mutation 43
                sideroblastic anemia 1 3
                spastic paraplegia with deafness 0
                syndactyly type 8 1
                syndromic X-linked intellectual disability 17 0
                syndromic X-linked intellectual disability 35 1
                syndromic X-linked intellectual disability 5 2
                syndromic X-linked intellectual disability Claes-Jensen type 2
                syndromic X-linked intellectual disability Siderius type 1
                syndromic X-linked intellectual disability Snyder type 1
                syndromic X-linked intellectual disability Turner type 4
                syndromic X-linked intellectual disorder Lujan-Fryns-type 1
                visceral heterotaxy 1 12
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