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G |
Sry |
sex determining region Y |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 1 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr Y:440,551...443,183
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G |
Atr |
ATR serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: ATR-X-related syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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G |
Atrx |
ATRX, chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human) DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human) DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human) |
OMIM ClinVar RGD |
PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 PMID:7506096 PMID:7697714 PMID:8630485 PMID:8644709 PMID:8968741 PMID:9244431 PMID:9326931 PMID:9536098 PMID:9598720 PMID:10204841 PMID:10398237 PMID:10417298 PMID:10632111 PMID:10660327 PMID:10995512 PMID:11050622 PMID:12116232 PMID:12673795 PMID:15508018 PMID:15591283 PMID:16813605 PMID:16935875 PMID:16955409 PMID:17576681 PMID:17579672 PMID:18409179 PMID:18414213 PMID:19291773 PMID:20500465 PMID:20655035 PMID:21421568 PMID:21505078 PMID:22129561 PMID:22659343 PMID:22796527 PMID:22995991 PMID:23352163 PMID:23681356 PMID:24082139 PMID:24289169 PMID:24327140 PMID:24690944 PMID:24728327 PMID:24759409 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25640679 PMID:25644381 PMID:25741868 PMID:26350204 PMID:26467025 PMID:26539891 PMID:28027854 PMID:28293299 PMID:28371217 PMID:28492530 PMID:28492532 PMID:28708303 PMID:29158550 PMID:29304373 PMID:29602769 PMID:29910053 PMID:31130284 PMID:32595695 PMID:24289169 PMID:24327140 PMID:24805811 More...
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RGD:9586030, RGD:9586029, RGD:9586027 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Gba |
glucosylceramidase beta |
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ISO |
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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G |
Amelx |
amelogenin, X-linked |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth |
OMIM ClinVar |
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 More...
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NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
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G |
Arhgap6 |
Rho GTPase activating protein 6 |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth |
ClinVar |
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 More...
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NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663
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G |
Dnajb2 |
DnaJ heat shock protein family (Hsp40) member B2 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 |
ClinVar |
PMID:22522442 PMID:25741868 PMID:26752306 PMID:27083531 PMID:28492532 |
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NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
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G |
Gjb1 |
gap junction protein, beta 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 | ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1 |
OMIM ClinVar |
PMID:427531 PMID:1211842 PMID:7477983 PMID:7580242 PMID:7946361 PMID:8004109 PMID:8162049 PMID:8266101 PMID:8304339 PMID:8698335 PMID:8733054 PMID:8737658 PMID:8757034 PMID:8800924 PMID:8816997 PMID:8829637 PMID:8889588 PMID:8990008 PMID:9018031 PMID:9099841 PMID:9187667 PMID:9272161 PMID:9328258 PMID:9354338 PMID:9361298 PMID:9364054 PMID:9401007 PMID:9452099 PMID:9592087 PMID:9600589 PMID:9633821 PMID:9818870 PMID:9854984 PMID:9888385 PMID:10071100 PMID:10093067 PMID:10102421 PMID:10207904 PMID:10220155 PMID:10487913 PMID:10521546 PMID:10586261 PMID:10586279 PMID:10639608 PMID:10732813 PMID:10737979 PMID:10848620 PMID:10873293 PMID:10923043 PMID:10931843 PMID:11140841 PMID:11271367 PMID:11325342 PMID:11393532 PMID:11404117 PMID:11437164 PMID:11438991 PMID:11571214 PMID:11723288 PMID:11734543 PMID:11835375 PMID:11891346 PMID:12111842 PMID:12207932 PMID:12297581 PMID:12362307 PMID:12402337 PMID:12460545 PMID:12477701 PMID:12497641 PMID:12499506 PMID:12542510 PMID:12707076 PMID:14627639 PMID:14663027 PMID:14960772 PMID:15006706 PMID:15241803 PMID:15468313 PMID:15470753 PMID:15719046 PMID:15852376 PMID:15947997 PMID:16079393 PMID:16301507 PMID:16442804 PMID:16476939 PMID:16688595 PMID:16922730 PMID:17100997 PMID:17353473 PMID:17620124 PMID:18254389 PMID:18379723 PMID:18380028 PMID:18714809 PMID:18717720 PMID:19062535 PMID:19259128 PMID:19297523 PMID:19335535 PMID:19369543 PMID:19448103 PMID:19691535 PMID:20128140 PMID:20193560 PMID:20301548 PMID:21254193 PMID:21291455 PMID:21326314 PMID:21504505 PMID:21692908 PMID:22243284 PMID:22464564 PMID:22771394 PMID:22820753 PMID:22944031 PMID:23106488 PMID:23209285 PMID:23384994 PMID:23649551 PMID:23707145 PMID:23773993 PMID:23806086 PMID:23827825 PMID:23871722 PMID:24088041 PMID:24444136 PMID:25025039 PMID:25429913 PMID:25741868 PMID:25802885 PMID:25947624 PMID:26257172 PMID:26392352 PMID:26454100 PMID:26467025 PMID:26955336 PMID:27025386 PMID:27027447 PMID:27098243 PMID:27544631 PMID:27804109 PMID:27844031 PMID:27862672 PMID:28071741 PMID:28097225 PMID:28283593 PMID:28334782 PMID:28448691 PMID:28469099 PMID:28492532 PMID:28768847 PMID:29077882 PMID:29086968 PMID:29095325 PMID:29245364 PMID:29462293 PMID:30340945 PMID:30373780 PMID:31211173 PMID:31323543 PMID:31372974 PMID:31673878 PMID:32010055 PMID:32022442 PMID:32376792 PMID:32399692 PMID:32903794 PMID:33105617 PMID:33136338 PMID:34089394 More...
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NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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G |
Sacs |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 |
ClinVar |
PMID:25741868 |
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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G |
Pdk3 |
pyruvate dehydrogenase kinase 3 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23297365 PMID:25741868 PMID:28492532 |
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NCBI chr X:58,477,471...58,553,932
Ensembl chr X:58,486,554...58,553,557
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: Child syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10710235 PMID:11907515 PMID:12966526 PMID:18414213 PMID:21290788 PMID:25526675 PMID:25741868 PMID:28492532 More...
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Hdac6 |
histone deacetylase 6 |
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ISO |
ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
OMIM ClinVar |
PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 |
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NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 PMID:19564592 PMID:20397747 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:23064044 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Fhl1 |
four and a half LIM domains 1 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
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G |
Hivep2 |
HIVEP zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:25741868 |
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NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr X:33,963,657...33,992,115
Ensembl chr X:33,963,657...33,992,115
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G |
Slc9a6 |
solute carrier family 9 member A6 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:24123876 PMID:25044251 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27256868 PMID:28492532 PMID:32581362 PMID:32776513 PMID:32860008 More...
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NCBI chr X:134,430,588...134,486,747
Ensembl chr X:134,420,756...134,485,375
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
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ISO |
ClinVar Annotator: match by term: Coffin syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5581017 PMID:8955270 PMID:9536098 PMID:9837815 PMID:9887375 PMID:10094187 PMID:10528858 PMID:11180593 PMID:11992250 PMID:12439904 PMID:12558110 PMID:14986828 PMID:15214012 PMID:16199547 PMID:16306095 PMID:16879200 PMID:17576681 PMID:17717706 PMID:18414213 PMID:19377476 PMID:19888300 PMID:21488662 PMID:25044551 PMID:25741868 PMID:28492532 PMID:29304373 PMID:31130284 PMID:31319225 PMID:32371413 More...
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NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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G |
Ccdc120 |
coiled-coil domain containing 120 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
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G |
Ccdc22 |
coiled-coil domain containing 22 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,185,353...15,339,977
Ensembl chr X:15,185,451...15,334,264
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G |
Ebp |
EBP, cholestenol delta-isomerase |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
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G |
Eras |
ES cell expressed Ras |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374
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G |
Foxp3 |
forkhead box P3 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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G |
Glod5 |
glyoxalase domain containing 5 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
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G |
Gpkow |
G patch domain and KOW motifs |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
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G |
Gripap1 |
GRIP1 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679
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G |
Hdac6 |
histone deacetylase 6 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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G |
Kcnd1 |
potassium voltage-gated channel subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
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G |
Magix |
MAGI family member, X-linked |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045
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G |
Mir500 |
microRNA 500 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
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G |
Mir532 |
microRNA 532 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
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G |
Otud5 |
OTU deubiquitinase 5 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
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G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
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G |
Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
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G |
Plp2 |
proteolipid protein 2 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
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G |
Ppp1r3f |
protein phosphatase 1, regulatory subunit 3F |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
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G |
Pqbp1 |
polyglutamine binding protein 1 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
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G |
Praf2 |
PRA1 domain family, member 2 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
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G |
Prickle3 |
prickle planar cell polarity protein 3 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
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G |
Rbm3 |
RNA binding motif protein 3 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
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G |
Slc35a2 |
solute carrier family 35 member A2 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
OMIM ClinVar |
PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28492532 PMID:28771251 PMID:29907092 PMID:30194038 PMID:30653653 PMID:30746764 PMID:30817854 More...
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NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
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G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,421,028...14,434,216
Ensembl chr X:14,421,109...14,433,982
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G |
Suv39h1-ps1 |
SUV39H1 histone lysine methyltransferase, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:141,793,695...141,795,558
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G |
Syp |
synaptophysin |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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G |
Tbc1d25 |
TBC1 domain family, member 25 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
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G |
Tfe3 |
transcription factor binding to IGHM enhancer 3 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
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G |
Timm17b |
translocase of inner mitochondrial membrane 17b |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
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G |
Usp27x |
ubiquitin specific peptidase 27, X-linked |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,123,642...15,126,855
Ensembl chr X:15,124,596...15,125,912
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G |
Was |
WASP actin nucleation promoting factor |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,405,096...14,413,850
Ensembl chr X:14,405,124...14,413,849
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G |
Wdr13 |
WD repeat domain 13 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,362,479...14,373,727
Ensembl chr X:14,362,860...14,373,727
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G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,776,280...14,782,197
Ensembl chr X:14,776,293...14,782,202
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G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr X:21,089,152...21,091,597
Ensembl chr X:21,089,122...21,109,488
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
|
ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 |
ClinVar |
PMID:19052029 PMID:23683030 PMID:28492532 |
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NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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G |
Ribc1 |
RIB43A domain with coiled-coils 1 |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr X:21,091,717...21,103,688
Ensembl chr X:21,091,717...21,103,200
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G |
Smc1a |
structural maintenance of chromosomes 1A |
|
ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 | ClinVar Annotator: match by term: SMC1A-related cohesinopathy |
OMIM ClinVar |
PMID:9536098 PMID:11877377 PMID:16199547 PMID:16273072 PMID:16604071 PMID:17273969 PMID:17576681 PMID:18414213 PMID:18996922 PMID:19052029 PMID:19701948 PMID:19842212 PMID:20635401 PMID:22106055 PMID:23551878 PMID:23683030 PMID:24088041 PMID:24124034 PMID:24756084 PMID:25125236 PMID:25326635 PMID:25574841 PMID:25741868 PMID:26354354 PMID:26358754 PMID:26386245 PMID:26467025 PMID:26633545 PMID:26752331 PMID:27159028 PMID:27334371 PMID:28166369 PMID:28425213 PMID:28492532 PMID:28548707 PMID:28826797 PMID:30158690 PMID:30847515 PMID:30871455 PMID:31157197 PMID:31334757 PMID:32238909 More...
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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G |
Dmrtc1a |
DMRT-like family C1a |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 |
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NCBI chr X:67,822,187...67,852,572
Ensembl chr X:67,822,113...67,852,571
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G |
Dmrtc1c1 |
DMRT-like family C1c1 |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 |
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NCBI chr X:67,896,973...67,904,182
Ensembl chr X:67,896,974...67,904,182
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G |
Hdac8 |
histone deacetylase 8 |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 DNA:snp:intron:c.164+5G>A (human) DNA:missense mutations, deletions, duplication:multiple (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19605684 PMID:21320778 PMID:22885700 PMID:22889856 PMID:24038889 PMID:24088041 PMID:24375697 PMID:24403048 PMID:25075551 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25574841 PMID:25741868 PMID:26463496 PMID:26633545 PMID:26671848 PMID:26725122 PMID:27159028 PMID:28492532 PMID:30158690 PMID:22889856 PMID:24403048 More...
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RGD:13208817, RGD:11068490 |
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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G |
Nap1l2 |
nucleosome assembly protein 1-like 2 |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 |
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NCBI chr X:68,174,051...68,176,449
Ensembl chr X:68,173,987...68,176,666
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G |
Pabpc1l2a |
poly(A) binding protein, cytoplasmic 1-like 2A |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 |
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NCBI chr X:68,023,977...68,026,508
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G |
Phka1 |
phosphorylase kinase regulatory subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 PMID:25741868 |
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NCBI chr X:67,601,302...67,738,504
Ensembl chr X:67,601,302...67,738,455
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G |
Eda |
ectodysplasin-A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17941886 |
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NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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G |
Efnb1 |
ephrin B1 |
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ISO |
ClinVar Annotator: match by term: Craniofrontonasal syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1468459 PMID:6627724 PMID:15124102 PMID:15166289 PMID:16639408 PMID:16685650 PMID:17941886 PMID:18043713 PMID:23335590 PMID:25741868 PMID:28492532 PMID:31837199 More...
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NCBI chr X:64,257,351...64,270,158
Ensembl chr X:64,257,351...64,270,157
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G |
Ophn1 |
oligophrenin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17941886 |
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NCBI chr X:63,599,746...63,976,678
Ensembl chr X:63,603,042...63,976,633
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G |
Pja1 |
praja ring finger ubiquitin ligase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17941886 |
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NCBI chr X:64,580,938...64,585,864
Ensembl chr X:64,580,849...64,585,833
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G |
Akap14 |
A-kinase anchoring protein 14 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,395,512...116,410,697
Ensembl chr X:116,395,516...116,410,697
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G |
Atp1b4 |
ATPase Na+/K+ transporting family member beta 4 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:117,087,284...117,108,023
Ensembl chr X:117,057,423...117,108,020
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G |
Lamp2 |
lysosomal-associated membrane protein 2 |
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ISO IMP |
ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy in hemizygote mutant male (LAMP2y/-) |
OMIM ClinVar RGD |
PMID:3087571 PMID:6408499 PMID:6450334 PMID:8504498 PMID:9536098 PMID:10972294 PMID:12112061 PMID:14598234 PMID:15253947 PMID:15673802 PMID:15889279 PMID:15907287 PMID:16144992 PMID:16190986 PMID:16199547 PMID:16217705 PMID:16565504 PMID:17576681 PMID:17899313 PMID:18004770 PMID:18061453 PMID:18282207 PMID:18312451 PMID:18555174 PMID:18990578 PMID:19318653 PMID:19373884 PMID:19533775 PMID:20173215 PMID:20445193 PMID:20960602 PMID:21415759 PMID:21896538 PMID:22074992 PMID:22695892 PMID:23168931 PMID:23785128 PMID:24033266 PMID:24503780 PMID:24691104 PMID:25091525 PMID:25326635 PMID:25458169 PMID:25525159 PMID:25611685 PMID:25741868 PMID:26748608 PMID:27460667 PMID:27532257 PMID:27600940 PMID:28255936 PMID:28492532 PMID:28771489 PMID:28822614 PMID:29753918 PMID:29875424 PMID:29915097 PMID:30108015 PMID:30847666 PMID:30984009 PMID:31464081 PMID:31638414 PMID:31729179 PMID:33495597 PMID:34906502 PMID:29720683 More...
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RGD:13703117 |
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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G |
Lamp2em1 |
lysosomal-associated membrane protein 2; TALEN induced mutant1 |
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IMP |
in hemizygote mutant male (LAMP2y/-) |
RGD |
PMID:29720683 |
RGD:13703117 |
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G |
Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
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G |
Nkap |
NFKB activating protein |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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G |
Rhox13 |
Rhox homeobox family member 13 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,911,157...116,917,938
Ensembl chr X:116,911,329...116,917,644
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G |
Rhoxf2b |
Rhox homeobox family member 2B |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870
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G |
Rnf113a1 |
ring finger protein 113A1 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,428,037...116,429,164
Ensembl chr X:116,427,684...116,433,762
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G |
Tmem255a |
transmembrane protein 255A |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008
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G |
Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
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G |
Zbtb33 |
zinc finger and BTB domain containing 33 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
OMIM ClinVar |
PMID:24011989 PMID:25741868 |
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NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
ClinVar |
PMID:24011989 |
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
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G |
Atp6v1a |
ATPase H+ transporting V1 subunit A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:25741868 |
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NCBI chr11:56,561,444...56,614,694
Ensembl chr11:56,560,974...56,614,694
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G |
Bclaf3 |
BCLAF1 and THRAP3 family member 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
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NCBI chr X:35,257,228...35,328,883
Ensembl chr X:35,263,576...35,328,816
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G |
Bend2 |
BEN domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 More...
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NCBI chr X:33,365,748...33,389,773
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
severity |
ISO |
DNA:mutations:cds: ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 | ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2 |
ClinVar OMIM RGD |
PMID:9536098 PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16199547 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17546640 PMID:17576681 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18266744 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22430159 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23708187 PMID:23756444 PMID:23828526 PMID:24564546 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25640679 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26112015 PMID:26467025 PMID:26482601 PMID:27334371 PMID:27599155 PMID:27770071 PMID:27824329 PMID:28492532 PMID:28837158 PMID:29095814 PMID:29100083 PMID:29190809 PMID:29264392 PMID:29420175 PMID:29444904 PMID:29655203 PMID:29852413 PMID:30182498 PMID:30460546 PMID:30624022 PMID:30776697 PMID:30898514 PMID:31313283 PMID:31690835 PMID:31791873 PMID:33436160 PMID:22678952 More...
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RGD:12791015 |
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Eif1ax |
eukaryotic translation initiation factor 1A, X-linked |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
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NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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G |
Map3k15 |
mitogen-activated protein kinase kinase kinase 15 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807
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G |
Map7d2 |
MAP7 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
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NCBI chr X:35,372,453...35,488,073
Ensembl chr X:35,372,700...35,488,091
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G |
Nhs |
NHS actin remodeling regulator |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 More...
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NCBI chr X:32,551,974...32,892,961
Ensembl chr X:32,552,026...32,889,992
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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G |
Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466
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G |
Ppef1 |
protein phosphatase with EF-hand domain 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
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NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701
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G |
Rai2 |
retinoic acid induced 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 More...
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NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
|
NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
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G |
Rs1 |
retinoschisin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:9536098 PMID:15499549 PMID:16813600 PMID:17546640 PMID:17576681 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23064044 PMID:23184456 PMID:23756444 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26112015 PMID:26467025 PMID:27824329 PMID:28492532 PMID:29655203 PMID:30624022 More...
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|
NCBI chr X:33,963,657...33,992,115
Ensembl chr X:33,963,657...33,992,115
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G |
Scml1 |
Scm polycomb group protein like 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 More...
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|
NCBI chr X:32,893,100...32,912,686
Ensembl chr X:32,894,327...32,911,366
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G |
Scml2 |
Scm polycomb group protein like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 More...
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NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742
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G |
Sh3kbp1 |
SH3 domain-containing kinase-binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
|
NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
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G |
Snap25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 PMID:23934111 PMID:24476948 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26467025 PMID:26482601 PMID:28492532 PMID:28777499 PMID:28778787 PMID:28887793 PMID:28940310 PMID:32238909 PMID:32681751 PMID:33734437 More...
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NCBI chr X:107,885,039...107,906,264
Ensembl chr X:107,885,064...107,893,002
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G |
Dcx |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 |
ClinVar |
PMID:28492532 |
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NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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G |
Diaph2 |
diaphanous-related formin 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:25741868 |
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NCBI chr X:92,395,189...93,234,521
Ensembl chr X:92,395,251...93,229,869
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G |
Fam133a |
family with sequence similarity 133, member A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:25741868 |
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G |
Nap1l3 |
nucleosome assembly protein 1-like 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:25741868 |
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NCBI chr X:88,347,595...88,350,393
Ensembl chr X:88,347,598...88,350,393
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G |
Pabpc5 |
poly A binding protein, cytoplasmic 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:25741868 |
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NCBI chr X:85,637,763...85,641,235
Ensembl chr X:85,638,574...85,639,722
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G |
Pcdh11x |
protocadherin 11 X-linked |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:25741868 |
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NCBI chr X:86,058,348...86,751,078
Ensembl chr X:86,058,394...86,747,036
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G |
Pcdh19 |
protocadherin 19 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 | ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME |
OMIM ClinVar |
PMID:5116697 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18234694 PMID:18414213 PMID:18469813 PMID:19214208 PMID:19377476 PMID:19752159 PMID:20713952 PMID:21053371 PMID:21480887 PMID:21519002 PMID:22050978 PMID:22267240 PMID:22504056 PMID:22848613 PMID:22946748 PMID:22949144 PMID:23066759 PMID:23334464 PMID:23708187 PMID:23712037 PMID:23808377 PMID:25326635 PMID:25499160 PMID:25741868 PMID:25891919 PMID:26467025 PMID:26765483 PMID:27143072 PMID:27179713 PMID:27527380 PMID:27787195 PMID:27884173 PMID:28334947 PMID:28462982 PMID:28492532 PMID:28669061 PMID:28837158 PMID:29064093 PMID:29301106 PMID:29358611 PMID:29377098 PMID:29655203 PMID:29763708 PMID:29866057 PMID:29933145 PMID:29933521 PMID:30287595 PMID:30451291 PMID:30530412 PMID:30828795 PMID:30945278 PMID:31031587 PMID:31302675 PMID:31319225 PMID:31618753 PMID:31665840 PMID:31901402 PMID:32425876 PMID:33262389 PMID:34008892 More...
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NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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G |
Srpx2 |
sushi-repeat-containing protein, X-linked 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 |
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NCBI chr X:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195
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G |
Tgif2lx2 |
TGFB-induced factor homeobox 2-like, X-linked 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:25741868 |
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NCBI chr X:84,109,203...84,110,264
Ensembl chr X:84,109,220...84,110,274
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G |
Tnmd |
tenomodulin |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 |
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NCBI chr X:97,057,137...97,072,634
Ensembl chr X:97,057,137...97,072,634
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G |
Tspan6 |
tetraspanin 6 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 |
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NCBI chr X:97,092,394...97,099,659
Ensembl chr X:97,092,388...97,099,309
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G |
Alas2 |
5'-aminolevulinate synthase 2 |
disease_progression |
ISO |
DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human) ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant |
OMIM ClinVar RGD |
PMID:18760763 PMID:23263862 PMID:23409301 PMID:23263862 PMID:18760763 |
RGD:18337286, RGD:18337287 |
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted |
OMIM ClinVar |
PMID:25741868 PMID:26833328 PMID:28492532 PMID:34008892 |
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NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
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G |
Porcn |
porcupine O-acyltransferase |
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ISO |
ClinVar Annotator: match by term: Focal dermal hypoplasia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17546030 PMID:17546031 PMID:18325042 PMID:19277062 PMID:19309688 PMID:19586929 PMID:19863546 PMID:25640089 PMID:25741868 PMID:28492532 More...
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NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Gorlin-Goltz Syndrome |
ClinVar |
PMID:11457640 PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Ptch2 |
patched 2 |
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ISO |
ClinVar Annotator: match by term: Gorlin-Goltz Syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Gorlin-Goltz Syndrome |
ClinVar |
PMID:12068298 PMID:16199547 PMID:19533801 PMID:21188540 PMID:22508808 PMID:25403219 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
Adgb |
androglobin |
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ISO |
ClinVar Annotator: match by term: Fragile X syndrome |
ClinVar |
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NCBI chr 1:4,753,621...4,896,268
Ensembl chr 1:4,753,621...4,896,190
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G |
Aff2 |
ALF transcription elongation factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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G |
App |
amyloid beta precursor protein |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22046307 |
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NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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G |
Cyfip1 |
cytoplasmic FMR1 interacting protein 1 |
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ISO |
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RGD |
PMID:22900020 |
RGD:11558008 |
NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
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ISO |
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RGD |
PMID:24352881 |
RGD:10401097 |
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
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ISO IMP |
DNA:trinucleotide expansion ClinVar Annotator: match by term: Fragile X syndrome compared to SD control;DNA:deletion:intron 7, exon 8: CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:7530551 PMID:7633450 PMID:7670500 PMID:8156595 PMID:8490650 PMID:9659908 PMID:15028757 PMID:15805463 PMID:16043816 PMID:16510718 PMID:17065172 PMID:18664458 PMID:18835858 PMID:20300527 PMID:21267007 PMID:22043169 PMID:25171808 PMID:25741868 PMID:28616095 PMID:1675488 PMID:30877790 PMID:27465362 PMID:28894415 PMID:24713347 PMID:12032354 More...
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RGD:1601178, RGD:38548928, RGD:38548926, RGD:38501107, RGD:11566052, RGD:11566028 |
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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G |
Fmr1em1Mzhe |
FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe |
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IMP |
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RGD |
PMID:28894415 |
RGD:38501107 |
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G |
Fmr1em1Sage |
FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs |
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IMP |
DNA:deletion:intron 7, exon 8: compared to SD control;DNA:deletion:intron 7, exon 8: |
RGD |
PMID:27465362 PMID:30877790 |
RGD:38548926, RGD:38548928 |
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G |
Grm1 |
glutamate metabotropic receptor 1 |
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ISO |
ClinVar Annotator: match by term: Fragile X syndrome |
ClinVar |
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NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
protein:increased expression:brain |
RGD |
PMID:25466251 PMID:26850918 |
RGD:13204755, RGD:11572344 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Nrxn3 |
neurexin 3 |
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ISO |
mRNA:decreased expression:hippocampus,somatosendory cortex |
RGD |
PMID:26235839 |
RGD:11554325 |
NCBI chr 6:107,641,760...109,272,849
Ensembl chr 6:107,641,780...109,272,044
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G |
Rab32 |
RAB32, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Fragile X syndrome |
ClinVar |
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NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
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ISO |
human gene in a mouse model CTD Direct Evidence: marker/mechanism |
OMIM CTD RGD |
PMID:27385396 PMID:15876460 |
RGD:12050151 |
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
mRNA:increased expression:prefrontal cortex, brain stem (mouse) |
RGD |
PMID:24418349 |
RGD:8655858 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Cox7b |
cytochrome c oxidase subunit 7B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732
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G |
Hccs |
holocytochrome c synthase |
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ISO |
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 |
OMIM ClinVar |
PMID:16059943 PMID:17033964 PMID:17893649 PMID:25741868 |
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NCBI chr X:24,932,943...24,942,376
Ensembl chr X:24,933,002...24,942,366
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G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 |
CTD ClinVar |
PMID:25741868 PMID:25772934 |
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NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
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G |
Cox7b |
cytochrome c oxidase subunit 7B |
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ISO |
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 |
OMIM ClinVar |
PMID:9747372 PMID:23122588 PMID:25741868 |
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NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732
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G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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ISO |
ClinVar Annotator: match by term: LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 |
OMIM ClinVar |
PMID:25741868 PMID:25772934 PMID:26741492 PMID:27488349 PMID:28050600 PMID:30423443 PMID:31243186 More...
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NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
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G |
Nhs |
NHS actin remodeling regulator |
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ISO |
DNA:snp, insertion, nonsense mutations:multiple (human) ClinVar Annotator: match by term: Nance-Horan syndrome |
ClinVar OMIM RGD |
PMID:458526 PMID:2246772 PMID:14564667 PMID:15466011 PMID:15623749 PMID:16736028 PMID:17256798 PMID:18018428 PMID:18949062 PMID:19414485 PMID:20882036 PMID:23757202 PMID:24968223 PMID:25266737 PMID:25741868 PMID:27148795 PMID:27159028 PMID:28492532 PMID:16736028 More...
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RGD:1598795 |
NCBI chr X:32,551,974...32,892,961
Ensembl chr X:32,552,026...32,889,992
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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G |
Ccdc120 |
coiled-coil domain containing 120 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
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G |
Ccdc22 |
coiled-coil domain containing 22 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,185,353...15,339,977
Ensembl chr X:15,185,451...15,334,264
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G |
Ebp |
EBP, cholestenol delta-isomerase |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
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G |
Eras |
ES cell expressed Ras |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374
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G |
Foxp3 |
forkhead box P3 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Gata1 |
GATA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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G |
Glod5 |
glyoxalase domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
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G |
Gpkow |
G patch domain and KOW motifs |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
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G |
Gripap1 |
GRIP1 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679
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G |
Hdac6 |
histone deacetylase 6 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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G |
Kcnd1 |
potassium voltage-gated channel subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
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G |
Magix |
MAGI family member, X-linked |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045
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G |
Mir500 |
microRNA 500 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
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G |
Mir532 |
microRNA 532 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
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G |
Otud5 |
OTU deubiquitinase 5 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
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G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
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G |
Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
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G |
Plp2 |
proteolipid protein 2 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
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G |
Ppp1r3f |
protein phosphatase 1, regulatory subunit 3F |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
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G |
Pqbp1 |
polyglutamine binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
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G |
Praf2 |
PRA1 domain family, member 2 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
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G |
Prickle3 |
prickle planar cell polarity protein 3 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
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G |
Rbm3 |
RNA binding motif protein 3 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
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G |
Slc35a2 |
solute carrier family 35 member A2 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
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G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,421,028...14,434,216
Ensembl chr X:14,421,109...14,433,982
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G |
Suv39h1-ps1 |
SUV39H1 histone lysine methyltransferase, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:141,793,695...141,795,558
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G |
Syp |
synaptophysin |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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G |
Tbc1d25 |
TBC1 domain family, member 25 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
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G |
Tfe3 |
transcription factor binding to IGHM enhancer 3 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
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G |
Timm17b |
translocase of inner mitochondrial membrane 17b |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
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G |
Usp27x |
ubiquitin specific peptidase 27, X-linked |
|
ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,123,642...15,126,855
Ensembl chr X:15,124,596...15,125,912
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G |
Was |
WASP actin nucleation promoting factor |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,405,096...14,413,850
Ensembl chr X:14,405,124...14,413,849
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G |
Wdr13 |
WD repeat domain 13 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,362,479...14,373,727
Ensembl chr X:14,362,860...14,373,727
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G |
Wdr45 |
WD repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22892189 PMID:23176820 PMID:23435086 PMID:23687123 PMID:24368176 PMID:24621584 PMID:25326635 PMID:25356899 PMID:25741868 PMID:25741887 PMID:25744623 PMID:26467025 PMID:26633542 PMID:26790960 PMID:27030146 PMID:27159028 PMID:27652284 PMID:28191889 PMID:28492532 PMID:28554332 PMID:28711740 PMID:29082105 PMID:29389947 PMID:29681108 PMID:30612247 PMID:31487502 PMID:32382396 PMID:34906502 More...
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NCBI chr X:14,776,280...14,782,197
Ensembl chr X:14,776,293...14,782,202
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G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:21,089,152...21,091,597
Ensembl chr X:21,089,122...21,109,488
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9536098 PMID:9628581 PMID:12210308 PMID:15197169 PMID:15669143 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19052029 PMID:20473311 PMID:21686261 PMID:23020937 PMID:23674175 PMID:23683030 PMID:23934111 PMID:24306141 PMID:24759409 PMID:25741868 PMID:25914188 PMID:26467025 PMID:26539891 PMID:26544041 PMID:26733290 PMID:26793055 PMID:26795593 PMID:27009485 PMID:27369185 PMID:27665735 PMID:28220259 PMID:28295041 PMID:28492532 PMID:28815955 PMID:29026562 PMID:29302074 PMID:29322350 PMID:30206421 PMID:30666632 PMID:30842726 PMID:31415821 PMID:33624935 PMID:34906502 More...
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NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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G |
Ribc1 |
RIB43A domain with coiled-coils 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:21,091,717...21,103,688
Ensembl chr X:21,091,717...21,103,200
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G |
Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 |
ClinVar |
PMID:19052029 PMID:23683030 PMID:28492532 |
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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G |
Steep1 |
STING1 ER exit protein 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 107 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 |
OMIM ClinVar |
PMID:25741868 PMID:29374277 |
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NCBI chr X:116,087,626...116,114,159
Ensembl chr X:116,060,929...116,114,159
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 |
OMIM ClinVar |
PMID:10319851 PMID:11180593 PMID:17100996 PMID:19377476 PMID:25741868 PMID:28492532 More...
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NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 |
OMIM ClinVar |
PMID:8826463 PMID:9106537 PMID:9620768 PMID:9668174 PMID:25559331 PMID:25741868 PMID:26975778 PMID:28492532 More...
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NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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G |
Acsl4 |
acyl-CoA synthetase long-chain family member 4 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 68 |
OMIM ClinVar |
PMID:11889465 PMID:12525535 PMID:25741868 |
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NCBI chr X:105,942,794...106,006,573
Ensembl chr X:105,942,799...106,006,427
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G |
Zfp819 |
zinc finger protein 819 |
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ISO |
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OMIM |
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NCBI chr 1:94,027,347...94,085,649
Ensembl chr 1:94,035,679...94,048,760
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G |
Zdhhc15 |
zinc finger DHHC-type palmitoyltransferase 15 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, X-linked 91 |
OMIM ClinVar |
PMID:15915161 PMID:25741868 |
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NCBI chr X:69,568,086...69,701,756
Ensembl chr X:69,574,124...69,701,756
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G |
Nexmif |
neurite extension and migration factor |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 |
OMIM ClinVar |
PMID:15466006 PMID:23615299 PMID:24307393 PMID:25741868 PMID:25900396 PMID:26467025 PMID:26576034 PMID:27358180 PMID:27568816 PMID:28492532 PMID:32860008 PMID:33144681 PMID:34008892 More...
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NCBI chr X:69,088,076...69,219,253
Ensembl chr X:69,088,076...69,112,930
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G |
Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
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ISO |
ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive |
ClinVar |
PMID:25741868 |
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NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
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G |
Rnf113a1 |
ring finger protein 113A1 |
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ISO |
ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive |
OMIM ClinVar |
PMID:25612912 PMID:25741868 PMID:29144457 PMID:31793730 PMID:31880405 |
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NCBI chr X:116,428,037...116,429,164
Ensembl chr X:116,427,684...116,433,762
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome I DNA:missense mutation:exon:243C>G (H81Q) (human) DNA:frameshift mutations, missense mutation, nonsense mutation:multiple DNA:deletion:exon:c.2183delG (human) DNA:frameshift mutations, missense mutation, splice-site mutation:multiple DNA:mutations:exon, intron:multiple |
OMIM ClinVar RGD |
PMID:9198060 PMID:9482645 PMID:9536098 PMID:11179005 PMID:11950863 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:24884629 PMID:25741868 PMID:26275793 PMID:26467025 PMID:28492532 PMID:28973083 PMID:18177199 PMID:16397067 PMID:21729220 PMID:11950863 PMID:23033313 More...
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RGD:11535968, RGD:11535966, RGD:11535960, RGD:11535958, RGD:11535957 |
NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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G |
Tmem17 |
transmembrane protein 17 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome I |
ClinVar |
PMID:25741868 PMID:26982032 |
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NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I DNA:missense mutation:cds:p.P207L (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:6019437 PMID:10982489 PMID:11704759 PMID:11992261 PMID:12612583 PMID:15194946 PMID:15917206 PMID:15940695 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:17264970 PMID:18414213 PMID:20979190 PMID:22465605 PMID:22522697 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300383 PMID:31942422 PMID:12612583 More...
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RGD:1598954 |
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16783569 |
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Andre syndrome | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD 2 syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Oto-palato-digital syndrome type 2 | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II DNA:missense mutation:cds:p.E254K (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15378534 PMID:15523633 PMID:15917206 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17431908 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20301567 PMID:20598277 PMID:20844545 PMID:21520333 PMID:21836662 PMID:21960593 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:30089473 PMID:30755392 PMID:31064749 PMID:32410215 PMID:32738303 PMID:33448881 PMID:12612583 More...
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RGD:1598954 |
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Diaph2 |
diaphanous-related formin 2 |
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ISO |
ClinVar Annotator: match by term: Premature ovarian failure 2A |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:92,395,189...93,234,521
Ensembl chr X:92,395,251...93,229,869
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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
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ISO |
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RGD |
PMID:22470123 |
RGD:12050152 |
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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G |
Mcm9 |
minichromosome maintenance 9 homologous recombination repair factor |
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ISO |
ClinVar Annotator: match by term: Primary ovarian insufficiency, fragile X-associated |
ClinVar |
PMID:25480036 PMID:25741868 PMID:31042289 |
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NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600
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G |
Clcn4 |
chloride voltage-gated channel 4 |
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ISO |
ClinVar Annotator: match by term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: MRX49 | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME |
OMIM ClinVar |
PMID:8826458 PMID:9415477 PMID:9536098 PMID:17576681 PMID:23647072 PMID:25644381 PMID:25741868 PMID:25741869 PMID:27550844 PMID:28492532 PMID:29314583 PMID:31690835 PMID:31780880 More...
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NCBI chr X:23,729,194...23,795,391
Ensembl chr X:23,729,338...23,793,238
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G |
Fhl1 |
four and a half LIM domains 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, early-onset, severe |
OMIM ClinVar |
PMID:7722535 PMID:18274675 PMID:19171836 PMID:19181672 PMID:20633900 PMID:24634512 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
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G |
Atp6ap2 |
ATPase H+ transporting accessory protein 2 |
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ISO |
ClinVar Annotator: match by term: Oculofaciocardiodental syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
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G |
Bcor |
BCL6 co-repressor |
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ISO |
DNA:mutations:cds: ClinVar Annotator: match by term: Oculofaciocardiodental syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:15004558 PMID:15770227 PMID:16829040 PMID:17517692 PMID:18414213 PMID:19367324 PMID:23815237 PMID:24728327 PMID:25326637 PMID:25620158 PMID:25741868 PMID:26694549 PMID:28492532 PMID:15004558 More...
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RGD:1600504 |
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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G |
Atg4a |
autophagy related 4A, cysteine peptidase |
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ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
ClinVar |
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NCBI chr X:104,665,345...104,765,271
Ensembl chr X:104,665,345...104,765,268
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G |
Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
ClinVar |
PMID:12028435 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 PMID:24033266 PMID:25514610 PMID:25741868 PMID:25755845 PMID:26467025 PMID:28492532 More...
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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G |
Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
OMIM ClinVar |
PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 PMID:1598909 PMID:1672282 PMID:1783380 PMID:2349482 PMID:6650503 PMID:7599631 PMID:7695699 PMID:7969679 PMID:8218237 PMID:8406498 PMID:8433568 PMID:8455372 PMID:8648925 PMID:8651292 PMID:8651296 PMID:8807602 PMID:8825605 PMID:8887300 PMID:8940267 PMID:9150741 PMID:9195222 PMID:9536098 PMID:9848783 PMID:10094548 PMID:10561141 PMID:10684360 PMID:10752524 PMID:11223851 PMID:11462238 PMID:11572889 PMID:12028435 PMID:12105244 PMID:12796257 PMID:13582260 PMID:14514738 PMID:14604828 PMID:14856448 PMID:14993485 PMID:15044104 PMID:15780079 PMID:15954103 PMID:15957001 PMID:16199547 PMID:17396119 PMID:17576681 PMID:17660027 PMID:18083113 PMID:18343956 PMID:19344236 PMID:19728970 PMID:19919694 PMID:19965530 PMID:20130921 PMID:20301386 PMID:20378821 PMID:20881942 PMID:21332469 PMID:21505094 PMID:21848006 PMID:22921432 PMID:22995991 PMID:23144074 PMID:23572034 PMID:23720012 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24046192 PMID:24077912 PMID:24088041 PMID:24130771 PMID:24304881 PMID:24470729 PMID:24472419 PMID:24522658 PMID:24759409 PMID:24854265 PMID:25525159 PMID:25575550 PMID:25739341 PMID:25741868 PMID:25741911 PMID:25788563 PMID:25876686 PMID:26467025 PMID:26613025 PMID:26633545 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27353043 PMID:27627812 PMID:27725732 PMID:28492532 PMID:28542346 PMID:28780565 PMID:28827396 PMID:28844315 PMID:29127259 PMID:29142990 PMID:29144512 PMID:29198386 PMID:29204651 PMID:29270492 PMID:29526710 PMID:29801666 PMID:29854973 PMID:29959198 PMID:30128941 PMID:30311386 PMID:30477285 PMID:30577881 PMID:30647093 PMID:30655312 PMID:30691124 PMID:30773290 PMID:31027891 PMID:31096494 PMID:31138263 PMID:31144478 PMID:31576025 PMID:31850286 PMID:32405592 PMID:33532864 PMID:33633790 PMID:34008892 More...
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NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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G |
Col4a6 |
collagen type IV alpha 6 chain |
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ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
ClinVar |
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NCBI chr X:104,766,463...105,117,499
Ensembl chr X:104,766,957...105,117,500
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G |
Fn1 |
fibronectin 1 |
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ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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G |
Msr1 |
macrophage scavenger receptor 1 |
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ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
ClinVar |
PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 PMID:25741868 PMID:28492532 More...
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NCBI chr16:52,717,775...52,802,890
Ensembl chr16:52,717,732...52,799,676
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G |
Zc3h12c |
zinc finger CCCH type containing 12C |
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ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
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G |
Ebp |
EBP, cholestenol delta-isomerase |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant | ClinVar Annotator: match by term: Chondrodysplasia punctata 2, X-linked dominant, atypical |
OMIM ClinVar |
PMID:1355069 PMID:7677157 PMID:10391218 PMID:10391219 PMID:10942423 PMID:11493318 PMID:11982764 PMID:12483303 PMID:12503102 PMID:12509714 PMID:15368506 PMID:18414213 PMID:20949533 PMID:22121851 PMID:22229330 PMID:24726177 PMID:25741868 PMID:26075358 PMID:28492532 PMID:30098249 More...
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NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
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G |
Bglap |
bone gamma-carboxyglutamate protein |
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ISO |
mRNA:increased expression:long bone |
RGD |
PMID:22573557 |
RGD:7207229 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Fam20c |
FAM20C, golgi associated secretory pathway kinase |
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ISO |
mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) |
RGD |
PMID:24710520 |
RGD:11560488 |
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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G |
Phex |
phosphate regulating endopeptidase X-linked |
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ISO |
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked DNA:mutation:exon:p.K496X(mouse) DNA:deletions:3'UTR,promoter,exons: DNA:mutations:cds,splice junction: DNA:deletion,mutations:exon,splice junction: |
OMIM ClinVar RGD |
PMID:188828 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 PMID:9199930 PMID:9536098 PMID:9768646 PMID:9768674 PMID:10439971 PMID:10737991 PMID:11004247 PMID:11468271 PMID:11502821 PMID:11502829 PMID:12414858 PMID:12727977 PMID:14564066 PMID:14564077 PMID:16055933 PMID:16199547 PMID:16303832 PMID:16636593 PMID:17576681 PMID:18162710 PMID:18252791 PMID:18625346 PMID:19219621 PMID:19513579 PMID:21050253 PMID:21902834 PMID:21994957 PMID:22101457 PMID:22261628 PMID:22695891 PMID:23079138 PMID:23466123 PMID:24033266 PMID:24102521 PMID:24684036 PMID:24836714 PMID:24857004 PMID:25042154 PMID:25525159 PMID:25741868 PMID:26040324 PMID:26051471 PMID:26377240 PMID:26467025 PMID:27840894 PMID:28492532 PMID:29460029 PMID:29505567 PMID:29858904 PMID:30298486 PMID:30607568 PMID:30682568 PMID:31102713 PMID:31910300 PMID:32257293 PMID:32329911 PMID:34633109 PMID:35738466 PMID:22573557 PMID:9063736 PMID:9106524 PMID:7550339 More...
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RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 |
NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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G |
Aff2 |
ALF transcription elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109 |
OMIM ClinVar |
PMID:18414213 PMID:21739600 PMID:22773736 PMID:23562910 PMID:25741868 PMID:28492532 More...
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NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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G |
Serpina1 |
serpin family A member 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 |
ClinVar |
PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 PMID:2700304 PMID:2904702 PMID:2989709 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6306478 PMID:7045697 PMID:7227484 PMID:8970361 PMID:9041988 PMID:9195389 PMID:9569237 PMID:12034572 PMID:14522813 PMID:15115878 PMID:15454649 PMID:15978931 PMID:17964515 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:18682522 PMID:19083091 PMID:19398551 PMID:19444872 PMID:19738092 PMID:20301692 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21637600 PMID:21960536 PMID:22426792 PMID:22735536 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:23484243 PMID:23632999 PMID:23837941 PMID:23858502 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:24592811 PMID:25181470 PMID:25637381 PMID:25738741 PMID:25741868 PMID:25966443 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26647313 PMID:26672964 PMID:26771213 PMID:26831755 PMID:26987331 PMID:27153395 PMID:27246852 PMID:27535533 PMID:27959697 PMID:28146470 PMID:28492532 PMID:29083408 PMID:29153744 PMID:29431110 PMID:29618937 PMID:29644095 PMID:29882371 PMID:30068317 PMID:30068662 PMID:30254761 PMID:30739910 PMID:31028937 PMID:31216405 PMID:31447099 PMID:31564432 PMID:31980526 PMID:32087139 PMID:32699024 PMID:33144682 PMID:33726816 PMID:34408828 PMID:34408829 More...
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NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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