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Angpt1 |
angiopoietin 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:30476904 |
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NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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Lamc1 |
laminin subunit gamma 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:30476904 |
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NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492
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Snap25 |
synaptosome associated protein 25 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17023870 |
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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 |
Tpi1 |
triosephosphate isomerase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2876430 PMID:8503454 |
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NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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G |
Cul7 |
cullin 7 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome |
CTD ClinVar |
PMID:16142236 PMID:17675530 PMID:19225462 PMID:21396581 PMID:21548126 PMID:23018678 PMID:23900270 PMID:24793695 PMID:24793696 PMID:25741868 PMID:28492532 PMID:28969986 PMID:31343991 PMID:31589614 PMID:34006472 More...
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NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
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G |
Obsl1 |
obscurin like cytoskeletal adaptor 1 |
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ISO |
ClinVar Annotator: match by term: 3-M syndrome |
ClinVar |
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NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
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G |
Dcps |
decapping enzyme, scavenger |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Al-Raqad syndrome |
OMIM CTD ClinVar |
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 |
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NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Alazami syndrome |
ClinVar |
PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 PMID:27915094 PMID:28333917 PMID:28492532 PMID:28575650 More...
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alazami syndrome |
OMIM CTD ClinVar |
PMID:21937992 PMID:22865833 PMID:25741868 PMID:26374271 PMID:26539891 PMID:26607181 PMID:28492532 PMID:30006060 PMID:31074943 PMID:32860008 More...
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NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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Ap4m1 |
adaptor related protein complex 4 subunit mu 1 |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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G |
Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
ClinVar |
PMID:25741868 PMID:26374271 PMID:29619239 PMID:30006060 PMID:30426380 PMID:31074943 More...
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NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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Taf6 |
TATA-box binding protein associated factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alazami-Yuan syndrome |
OMIM CTD ClinVar |
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 |
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NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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G |
Slc16a2 |
solute carrier family 16 member 2 |
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ISO ISS |
OMIM:300523 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy |
OMIM MouseDO CTD ClinVar |
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 PMID:15889350 PMID:15980113 PMID:16417886 PMID:17356046 PMID:18187543 PMID:18398436 PMID:18414213 PMID:18636565 PMID:20083155 PMID:20301789 PMID:23568789 PMID:23744248 PMID:24265446 PMID:24721225 PMID:25167861 PMID:25517855 PMID:25527620 PMID:25741868 PMID:27081503 PMID:27212794 PMID:27805744 PMID:28492532 PMID:30369548 PMID:31410843 PMID:31690835 PMID:32277047 PMID:32559475 PMID:33847015 More...
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NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
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Pou4f1 |
POU class 4 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset |
OMIM ClinVar |
PMID:29758562 PMID:33783914 |
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NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
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Sacs |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation |
ClinVar |
PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 PMID:31692161 More...
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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 |
Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Kabuki-like syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Hnrnpk |
heterogeneous nuclear ribonucleoprotein K |
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ISO |
ClinVar Annotator: match by term: AU-KLINE SYNDROME CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 PMID:28374925 PMID:28771707 PMID:29904177 PMID:30793470 PMID:30998304 PMID:32222014 PMID:36130591 More...
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NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
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Med13l |
mediator complex subunit 13L |
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ISO |
ClinVar Annotator: match by term: Kabuki-like syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
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Naa20 |
N(alpha)-acetyltransferase 20, NatB catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 73 |
ClinVar OMIM |
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NCBI chr 3:133,322,036...133,336,843
Ensembl chr 3:133,322,064...133,337,009
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Opa1 |
OPA1, mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17576681 PMID:17722006 PMID:18222991 PMID:18496845 PMID:19303950 PMID:19319978 PMID:19900585 PMID:20157015 PMID:20417568 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25641387 PMID:25741868 PMID:25794858 PMID:26206283 PMID:26385429 PMID:26467025 PMID:27290639 PMID:27890673 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:30293569 PMID:30972688 PMID:31782039 PMID:32040484 PMID:32202296 PMID:32371413 PMID:33546218 PMID:33841295 PMID:34242285 PMID:34426522 PMID:34732400 More...
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NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 |
ClinVar |
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NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 PMID:9430594 PMID:9536098 PMID:9872318 PMID:10323247 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14669214 PMID:14985406 PMID:15030501 PMID:15178210 PMID:15249611 PMID:15596769 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16319223 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17475800 PMID:17576681 PMID:17675531 PMID:17872363 PMID:17993630 PMID:18006581 PMID:18246739 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19818940 PMID:20119593 PMID:20437616 PMID:21913284 PMID:21937445 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23290024 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24375629 PMID:24586341 PMID:24759409 PMID:25046240 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25959266 PMID:25960349 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26993267 PMID:27334371 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27861786 PMID:27864847 PMID:27888506 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28399683 PMID:28492532 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29383681 PMID:29390993 PMID:29429461 PMID:29455050 PMID:29655203 PMID:29726930 PMID:29852413 PMID:29933521 PMID:30126342 PMID:30185235 PMID:30440138 PMID:30478917 PMID:31019026 PMID:31152295 PMID:31164858 PMID:31199083 PMID:31418850 PMID:31440733 PMID:31512412 PMID:31780880 PMID:32139178 PMID:32184343 PMID:32362866 PMID:32860008 PMID:32917465 PMID:33659638 PMID:33754465 PMID:34020651 PMID:34055682 PMID:34120799 PMID:34354098 PMID:34395220 PMID:34711204 PMID:35104249 PMID:35557555 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia |
ClinVar |
PMID:24375629 PMID:25741868 |
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kcnk9 |
potassium two pore domain channel subfamily K member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome | ClinVar Annotator: match by term: Birk-Barel syndrome |
OMIM CTD ClinVar |
PMID:18678320 PMID:23236211 PMID:25326635 PMID:25741868 PMID:27151206 PMID:28333430 PMID:28882594 PMID:29165669 PMID:30690205 PMID:35698242 More...
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NCBI chr 7:104,429,186...104,473,924
Ensembl chr 7:104,437,934...104,473,175
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G |
Trpm3 |
transient receptor potential cation channel, subfamily M, member 3 |
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ISO |
ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism |
ClinVar |
PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32439617 PMID:34438093 PMID:35146895 More...
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NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
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Rbl2 |
RB transcriptional corepressor like 2 |
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ISO |
ClinVar Annotator: match by term: Brunet-Wagner neurodevelopmental syndrome |
OMIM ClinVar |
PMID:25741868 PMID:32105419 |
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NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572
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G |
Crat |
carnitine O-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY |
ClinVar |
PMID:28492532 PMID:31448845 |
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NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
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Trdn |
triadin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 5 | ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22422768 PMID:24025405 PMID:24033266 PMID:25326635 PMID:25650408 PMID:25741868 PMID:25922419 PMID:26200674 PMID:26768964 PMID:27538377 PMID:28341588 PMID:28492532 PMID:30847666 PMID:31437535 PMID:31589614 PMID:31847883 PMID:31980526 PMID:32746448 PMID:33432171 More...
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NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
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G |
Ctc1 |
CST telomere replication complex component 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coats plus syndrome |
CTD ClinVar |
PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 PMID:30891747 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Stn1 |
STN1 subunit of CST complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
OMIM ClinVar |
PMID:16199547 PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28492532 PMID:28864049 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30523342 PMID:30891747 PMID:34573280 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Pfas |
phosphoribosylformylglycinamidine synthase |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
ClinVar |
PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 PMID:29111009 PMID:29481669 More...
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NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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G |
Stn1 |
STN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 |
OMIM ClinVar |
PMID:25741868 PMID:27432940 PMID:28492532 |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Pot1 |
protection of telomeres 1 |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 |
ClinVar OMIM |
PMID:27013236 PMID:28492532 |
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NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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G |
Ankfy1 |
ankyrin repeat and FYVE domain containing 1 |
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ISS |
OMIM:270550 |
MouseDO |
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NCBI chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964
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G |
Cacnb2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE |
ClinVar |
PMID:24752249 PMID:25326637 PMID:28492532 |
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NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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G |
Sacs |
sacsin molecular chaperone |
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ISO ISS |
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia OMIM:270550 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 PMID:14718706 PMID:14718707 PMID:14718708 PMID:15156359 PMID:15486997 PMID:15985586 PMID:16007637 PMID:16198375 PMID:16606928 PMID:16944349 PMID:16961075 PMID:17516465 PMID:17576681 PMID:18414213 PMID:18439928 PMID:18465152 PMID:18484239 PMID:18569450 PMID:18604465 PMID:19208651 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20368637 PMID:20798953 PMID:20852969 PMID:20876471 PMID:21410841 PMID:21450511 PMID:21507954 PMID:21665375 PMID:21745802 PMID:21993619 PMID:22287014 PMID:22307627 PMID:22751902 PMID:22816526 PMID:22892508 PMID:23043354 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23598833 PMID:24033266 PMID:24108619 PMID:24180463 PMID:24318559 PMID:24384335 PMID:24457356 PMID:25237835 PMID:25260547 PMID:25326637 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25819952 PMID:25887915 PMID:26010040 PMID:26068213 PMID:26288984 PMID:26302956 PMID:26366743 PMID:26410750 PMID:26467025 PMID:26530509 PMID:26539891 PMID:27133561 PMID:27142713 PMID:27217339 PMID:27288452 PMID:27391121 PMID:27433545 PMID:27871429 PMID:27980752 PMID:28251916 PMID:28362824 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:28972115 PMID:29220673 PMID:29277257 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29945973 PMID:29968200 PMID:30271475 PMID:30460542 PMID:30638817 PMID:30901567 PMID:31069529 PMID:31429931 PMID:31475473 PMID:31493945 PMID:31637422 PMID:31673878 PMID:31692161 PMID:31980526 PMID:32140197 PMID:32488064 PMID:32606552 PMID:33624863 PMID:33746006 PMID:33956305 PMID:34600502 PMID:34649874 PMID:34758253 PMID:35578252 PMID:35731353 PMID:36233161 More...
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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 |
Sgcg |
sarcoglycan, gamma |
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ISO |
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
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G |
Clcn6 |
chloride voltage-gated channel 6 |
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ISO |
ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities |
ClinVar OMIM |
PMID:25741868 PMID:33217309 |
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NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
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G |
Glrx5 |
glutaredoxin 5 |
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ISO |
ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia |
OMIM ClinVar |
PMID:24334290 PMID:25741868 PMID:28492532 |
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NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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Aptx |
aprataxin |
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ISO |
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 |
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NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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Coq2 |
coenzyme Q2, polyprenyltransferase |
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ISO |
ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
ClinVar |
PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17420317 PMID:17855635 PMID:20495179 PMID:20689595 PMID:23349334 PMID:23758206 PMID:24988567 PMID:25349199 PMID:25525159 PMID:25548529 PMID:25594503 PMID:25741868 PMID:27493029 PMID:28492532 PMID:29127259 PMID:29637272 PMID:29869118 PMID:30295827 PMID:30613928 More...
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NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
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Coq8a |
coenzyme Q8A |
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ISO |
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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Coq9 |
coenzyme Q9 |
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ISS ISO |
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
MouseDO ClinVar |
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NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
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Pdss1 |
decaprenyl diphosphate synthase subunit 1 |
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ISO |
ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:85,059,953...85,098,739
Ensembl chr17:85,060,106...85,098,730
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Pdss2 |
decaprenyl diphosphate synthase subunit 2 |
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ISS ISO |
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary |
MouseDO ClinVar |
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NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
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Ankrd46 |
ankyrin repeat domain 46 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,647,202...67,668,180
Ensembl chr 7:67,647,204...67,668,132
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Atp6v1c1 |
ATPase H+ transporting V1 subunit C1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278
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Azin1 |
antizyme inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
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Baalc |
BAALC binder of MAP3K1 and KLF4 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288
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Cox6c |
cytochrome c oxidase subunit 6C |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963
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Cthrc1 |
collagen triple helix repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756
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Dcaf13 |
DDB1 and CUL4 associated factor 13 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,160,983...70,196,142
Ensembl chr 7:70,160,941...70,196,142
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Dcstamp |
dendrocyte expressed seven transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078
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Dpys |
dihydropyrimidinase |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
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Fbxo43 |
F-box protein 43 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751
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Fzd6 |
frizzled class receptor 6 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
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Grhl2 |
grainyhead-like transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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Kcns2 |
potassium voltage-gated channel, modifier subfamily S, member 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:66,022,352...66,028,422
Ensembl chr 7:66,022,352...66,028,422
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Klf10 |
KLF transcription factor 10 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,467,658...69,473,726
Ensembl chr 7:69,465,619...69,473,994
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Lrp12 |
LDL receptor related protein 12 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441
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Mir875 |
microRNA 875 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
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Myo7a |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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Ncald |
neurocalcin delta |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:68,532,671...68,964,740
Ensembl chr 7:68,534,421...68,964,496
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Nipal2 |
NIPA-like domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:65,774,477...65,884,807
Ensembl chr 7:65,774,477...65,884,807
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Odf1 |
outer dense fiber of sperm tails 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,377,427...69,389,662
Ensembl chr 7:69,380,116...69,389,664
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Osr2 |
odd-skipped related transciption factor 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:66,487,841...66,495,003
Ensembl chr 7:66,487,839...66,495,224
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Pabpc1 |
poly(A) binding protein, cytoplasmic 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744
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Polr2k |
RNA polymerase II, I and III subunit K |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
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Pop1 |
POP1 homolog, ribonuclease P/MRP subunit |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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Rgs22 |
regulator of G-protein signaling 22 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,188,531...67,308,805
Ensembl chr 7:67,188,519...67,308,875
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Rims2 |
regulating synaptic membrane exocytosis 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491
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Rnf19a |
ring finger protein 19A, RBR E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,425,833...67,465,214
Ensembl chr 7:67,425,837...67,465,222
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Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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Slc25a32 |
solute carrier family 25 member 32 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,142,958...70,160,726
Ensembl chr 7:70,142,964...70,160,770
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Snx31 |
sorting nexin 31 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,676,514...67,776,925
Ensembl chr 7:67,676,524...67,732,086
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Spag1 |
sperm associated antigen 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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Stk3 |
serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:66,053,209...66,323,292
Ensembl chr 7:66,052,345...66,323,233
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Ubr5 |
ubiquitin protein ligase E3 component n-recognin 5 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903
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Vps13b |
vacuolar protein sorting 13 homolog B |
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ISO ISS |
OMIM:216550 ClinVar Annotator: match by term: Cohen syndrome CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:15918062 PMID:16199547 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17576681 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:19763152 PMID:20307669 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21865173 PMID:22382802 PMID:22406018 PMID:22527104 PMID:22700954 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334746 PMID:24334764 PMID:25060287 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25640679 PMID:25741868 PMID:26104215 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26539891 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28057753 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28631888 PMID:28832562 PMID:29149870 PMID:29431110 PMID:29453417 PMID:29634382 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30290665 PMID:30792901 PMID:30843084 PMID:31580008 PMID:31736247 PMID:31943017 PMID:31965297 PMID:32170714 PMID:32384097 PMID:32505691 PMID:32581362 PMID:32860008 PMID:32919079 PMID:32959227 PMID:33023636 PMID:33025479 PMID:33217554 PMID:34353225 More...
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NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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Ywhaz |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
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Zfp706 |
zinc finger protein 706 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:68,167,496...68,174,121
Ensembl chr 7:68,166,323...68,174,148
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Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Clcf1 |
cardiotrophin-like cytokine factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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Crlf1 |
cytokine receptor-like factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cold-induced sweating syndrome |
CTD ClinVar |
PMID:20186812 PMID:25741868 |
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NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Klhl7 |
kelch-like family member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Crlf1 |
cytokine receptor-like factor 1 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 |
OMIM ClinVar |
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:20400119 PMID:21326283 PMID:21370513 PMID:24008591 PMID:24488861 PMID:25326637 PMID:25741868 PMID:26752647 PMID:27976805 PMID:28492532 PMID:31497877 PMID:35699517 More...
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NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Klhl7 |
kelch-like family member 7 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 |
ClinVar |
PMID:25741868 PMID:27392078 |
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Clcf1 |
cardiotrophin-like cytokine factor 1 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 |
OMIM ClinVar |
PMID:16782820 PMID:20400119 PMID:25741868 |
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NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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Klhl7 |
kelch-like family member 7 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: PERCHING syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 PMID:28492532 PMID:29074562 PMID:30300710 PMID:30426380 PMID:30997404 PMID:31953236 PMID:35670385 PMID:35699517 More...
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Avil |
advillin |
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ISO |
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
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Tsfm |
Ts translation elongation factor, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
OMIM CTD ClinVar |
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25078778 PMID:25741868 PMID:28074886 PMID:28492532 PMID:29261183 PMID:31267352 PMID:33816677 More...
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NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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Atn1 |
atrophin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies |
OMIM ClinVar |
PMID:17067864 PMID:25741868 PMID:30827498 |
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NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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Nalcn |
sodium leak channel, non-selective |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay |
OMIM CTD ClinVar |
PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 PMID:27473021 PMID:27633718 PMID:27681385 PMID:28327206 PMID:28333917 PMID:28454995 PMID:28492532 PMID:30167850 PMID:32698188 More...
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NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
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Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Wac |
WW domain containing adaptor with coiled-coil |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation |
OMIM CTD ClinVar |
PMID:23033978 PMID:25741868 PMID:26264232 PMID:26757981 PMID:28191890 PMID:29190062 More...
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NCBI chr17:55,922,686...55,984,286
Ensembl chr17:55,923,123...55,982,301
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Amer1 |
APC membrane recruitment protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440
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Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
OMIM CTD ClinVar |
PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 PMID:17893116 PMID:18414213 PMID:18615734 PMID:21633362 PMID:21731583 PMID:22612257 PMID:23033978 PMID:25568878 PMID:25678704 PMID:25741868 PMID:26467025 PMID:26834553 PMID:27238888 PMID:28492532 PMID:28589176 PMID:28620718 PMID:28708303 PMID:29130122 PMID:30914922 PMID:31054490 PMID:32005694 PMID:32860008 PMID:33860439 More...
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NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
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Asb12 |
ankyrin repeat and SOCS box-containing 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr X:60,328,325...60,478,031
Ensembl chr X:60,328,328...60,415,619
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G |
Zc4h2 |
zinc finger C4H2-type containing |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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Golga2 |
golgin A2 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:30237576 PMID:34424553 |
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NCBI chr 3:15,583,862...15,604,279
Ensembl chr 3:15,584,039...15,604,279
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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language |
OMIM ClinVar |
PMID:25741868 PMID:28135719 PMID:35395208 |
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NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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G |
Srcap |
Snf2-related CREBBP activator protein |
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ISO |
ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33909990 |
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NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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G |
Gsx2 |
GS homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:31412107 |
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NCBI chr14:33,123,799...33,126,151
Ensembl chr14:33,124,381...33,126,105
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G |
Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome |
ClinVar |
PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098 PMID:11754102 PMID:16199547 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:26257771 PMID:28166811 PMID:28492532 PMID:28831199 PMID:29907982 PMID:29926239 PMID:30675029 PMID:31096651 PMID:31316167 PMID:33435129 PMID:34008892 More...
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NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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G |
Myh8 |
myosin heavy chain 8 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human) |
OMIM CTD ClinVar RGD |
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 PMID:15590965 PMID:17041932 PMID:18049072 PMID:18414213 PMID:20949528 PMID:25305228 PMID:25741868 PMID:28492532 PMID:17041932 More...
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RGD:12914760 |
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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G |
Adcy5 |
adenylate cyclase 5 |
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ISO |
ClinVar Annotator: match by term: Dyskinesia, familial, with facial myokymia CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:24700542 PMID:25741868 PMID:26085604 PMID:26537056 PMID:28492532 PMID:28511835 PMID:30772269 More...
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NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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G |
Adcy5 |
adenylate cyclase 5 |
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ISO |
ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal dominant |
OMIM ClinVar |
PMID:152174 PMID:1003446 PMID:11310626 PMID:11445636 PMID:16199547 PMID:16537460 PMID:22782511 PMID:24700542 PMID:25326635 PMID:25545163 PMID:25741868 PMID:25790160 PMID:26085604 PMID:26537056 PMID:26686870 PMID:27061943 PMID:27931826 PMID:28492532 PMID:28511835 PMID:28971144 PMID:30772269 PMID:31181574 PMID:31501304 PMID:31731261 PMID:32627162 PMID:32713175 PMID:34631954 More...
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NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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G |
Adcy5 |
adenylate cyclase 5 |
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ISO |
ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28971144 PMID:30975617 |
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NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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G |
Slc2a1 |
solute carrier family 2 member 1 |
susceptibility |
ISO |
DNA:missense mutation:exon: p.R212C (c.634C>T) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9 |
OMIM CTD ClinVar RGD |
PMID:8808284 PMID:9536098 PMID:10980529 PMID:11076005 PMID:11477212 PMID:12325075 PMID:15622525 PMID:16217704 PMID:16949238 PMID:17052934 PMID:17576681 PMID:17718830 PMID:18414213 PMID:18451999 PMID:18606970 PMID:19630075 PMID:19798636 PMID:20129935 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21546317 PMID:21555602 PMID:21832227 PMID:21865127 PMID:22622956 PMID:22704013 PMID:22976442 PMID:23280796 PMID:23340081 PMID:23448551 PMID:25108116 PMID:25326635 PMID:25487684 PMID:25564316 PMID:25741868 PMID:25914049 PMID:25982116 PMID:26193382 PMID:26216499 PMID:26467025 PMID:26537434 PMID:26598494 PMID:26615598 PMID:26982753 PMID:27351150 PMID:28018440 PMID:28116237 PMID:28492532 PMID:28961260 PMID:29961769 PMID:31196579 PMID:31737037 PMID:21832227 More...
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RGD:12879478 |
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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G |
Akap3 |
A-kinase anchoring protein 3 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,688,049...159,714,067
Ensembl chr 4:159,699,289...159,713,903
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G |
Ano2 |
anoctamin 2 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,514,200...158,855,639
Ensembl chr 4:158,496,014...158,855,651
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G |
Ccnd2 |
cyclin D2 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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G |
chromosome 12 open reading frame 4 |
similar to human |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382
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G |
Dyrk4 |
dual specificity tyrosine phosphorylation regulated kinase 4 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,715,658...159,757,660
Ensembl chr 4:159,715,417...159,757,627
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G |
Fgf23 |
fibroblast growth factor 23 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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G |
Fgf6 |
fibroblast growth factor 6 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
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G |
Galnt8 |
polypeptide N-acetylgalactosaminyltransferase 8 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,626,438...159,650,327
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G |
Kcna1 |
potassium voltage-gated channel subfamily A member 1 |
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ISO ISS IAGP |
OMIM:160120 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY |
OMIM MouseDO CTD ClinVar RGD |
PMID:2245301 PMID:7842011 PMID:8541859 PMID:8845167 PMID:9526001 PMID:9600245 PMID:10355668 PMID:11013453 PMID:11026449 PMID:11746627 PMID:12408867 PMID:15127317 PMID:15979945 PMID:16511644 PMID:17114047 PMID:19307729 PMID:19528245 PMID:19779067 PMID:20301785 PMID:21307345 PMID:21858020 PMID:22609616 PMID:23349320 PMID:25659636 PMID:25741868 PMID:26395884 PMID:26467025 PMID:26778656 PMID:27864847 PMID:28216637 PMID:28492532 PMID:28666963 PMID:29056246 PMID:29375859 PMID:29915382 PMID:30055040 PMID:30140249 PMID:32139178 PMID:32705822 PMID:34305802 PMID:22206926 More...
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RGD:10047237 |
NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682
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G |
Kcna1Adms |
potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures |
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IAGP |
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RGD |
PMID:22206926 |
RGD:10047237 |
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G |
Kcna5 |
potassium voltage-gated channel subfamily A member 5 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:21858020 PMID:28492532 |
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NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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G |
Kcna6 |
potassium voltage-gated channel subfamily A member 6 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
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G |
Ndufa9 |
NADH:ubiquinone oxidoreductase subunit A9 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018
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G |
Ntf3 |
neurotrophin 3 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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G |
Rad51ap1 |
RAD51 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,759,454...159,772,473
Ensembl chr 4:159,759,459...159,772,524
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G |
Tigar |
TP53 induced glycolysis regulatory phosphatase |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:159,927,136...159,946,077
Ensembl chr 4:159,927,139...159,946,029
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G |
Vwf |
von Willebrand factor |
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ISO |
ClinVar Annotator: match by term: Episodic ataxia type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27585885 |
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27585885 |
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NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Bche |
butyrylcholinesterase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6465587 |
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NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Pmp22 |
peripheral myelin protein 22 |
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ISO |
ClinVar Annotator: match by term: Tongue fasciculations |
ClinVar |
PMID:25741868 |
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NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
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G |
Anapc7 |
anaphase promoting complex subunit 7 |
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ISO |
ClinVar Annotator: match by term: Ferguson-Bonni neurodevelopmental syndrome |
OMIM ClinVar |
PMID:25741868 PMID:34942119 |
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NCBI chr12:34,131,214...34,160,819
Ensembl chr12:34,133,429...34,160,005
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
DNA:missense mutation:exon:p.R28L (c.83G>T) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19200522 |
RGD:11576290 |
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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G |
Flna |
filamin A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17632775 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome DNA:missense mutation:cds:2881C>T(p.R961W)(human) DNA:missense mutation:cds:p.G958E(human) |
CTD ClinVar RGD |
PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 PMID:16199547 PMID:16700052 PMID:17334363 PMID:17369503 PMID:17576681 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:23395478 PMID:23757202 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26350204 PMID:26813965 PMID:27081531 PMID:27312080 PMID:27500536 PMID:27620904 PMID:27980443 PMID:28369444 PMID:28492532 PMID:28544239 PMID:28794916 PMID:30006928 PMID:30729724 PMID:31536828 PMID:32371413 PMID:32682435 PMID:32715471 PMID:32779332 PMID:33023636 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34008892 PMID:34079076 PMID:17334363 PMID:20507344 More...
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RGD:12910952, RGD:12910948 |
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Foxo4 |
forkhead box O4 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
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G |
Gjb1 |
gap junction protein, beta 1 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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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 |
Il2rg |
interleukin 2 receptor subunit gamma |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
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G |
Itgb1bp2 |
integrin subunit beta 1 binding protein 2 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,572,537...66,577,174
Ensembl chr X:66,572,537...66,577,174
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
OMIM ClinVar |
PMID:6711603 PMID:8279489 PMID:9286458 PMID:9536098 PMID:10405444 PMID:10982179 PMID:16199547 PMID:16700052 PMID:17334363 PMID:17369503 PMID:17576681 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20507344 PMID:20981778 PMID:23091001 PMID:23395478 PMID:23506379 PMID:23757202 PMID:24033266 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25644381 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26350204 PMID:26467025 PMID:26813965 PMID:27081531 PMID:27286923 PMID:27312080 PMID:27500536 PMID:27620904 PMID:27980443 PMID:28369444 PMID:28492532 PMID:28544239 PMID:28794916 PMID:30006928 PMID:30729724 PMID:31322785 PMID:31536828 PMID:32174975 PMID:32371413 PMID:32410215 PMID:32682435 PMID:32715471 PMID:32779332 PMID:33023636 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34008892 PMID:34079076 More...
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Nlgn3 |
neuroligin 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
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G |
Nono |
non-POU domain containing, octamer-binding |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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G |
Slc7a3 |
solute carrier family 7 member 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,210,071...66,216,482
Ensembl chr X:66,210,081...66,215,708
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G |
Snx12 |
sorting nexin 12 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,226,995...66,356,945
Ensembl chr X:66,227,053...66,356,950
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G |
Taf1 |
TATA-box binding protein associated factor 1 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543
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G |
Tex11 |
testis expressed 11 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:65,932,904...66,196,525
Ensembl chr X:65,932,988...66,196,187
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G |
Zmym3 |
zinc finger MYM-type containing 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: FG syndrome 2 |
OMIM ClinVar |
PMID:10982489 PMID:12612583 PMID:16299064 PMID:16417552 PMID:16822260 PMID:17632775 PMID:18414213 PMID:22522697 PMID:25167861 PMID:25741868 PMID:26467025 PMID:28133863 PMID:28492532 PMID:29720203 PMID:30089473 PMID:30986657 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 |
OMIM ClinVar |
PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23406872 PMID:23871722 PMID:24505460 PMID:24781210 PMID:25741868 PMID:27652284 PMID:27799067 PMID:28139025 PMID:28492532 PMID:28944139 PMID:29878067 PMID:30549415 PMID:33090494 More...
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NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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G |
Chml |
CHM like Rab escort protein |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
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NCBI chr13:87,609,647...87,619,868
Ensembl chr13:87,589,298...87,619,862
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G |
Exo1 |
exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
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NCBI chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654
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G |
Fh |
fumarate hydratase |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 PMID:10896297 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15221078 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16151915 PMID:16199547 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16876016 PMID:17182618 PMID:17270241 PMID:17392716 PMID:17576681 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18503824 PMID:19151755 PMID:19183174 PMID:19339519 PMID:19939761 PMID:19967458 PMID:20301679 PMID:20549362 PMID:20618355 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21904061 PMID:21929734 PMID:22069215 PMID:22127509 PMID:22382802 PMID:22595425 PMID:22703879 PMID:23211287 PMID:23612258 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24441663 PMID:24728327 PMID:25004247 PMID:25637381 PMID:25741868 PMID:25852058 PMID:25923021 PMID:25985877 PMID:26113603 PMID:26173633 PMID:26467025 PMID:26580448 PMID:26700204 PMID:26900816 PMID:27037871 PMID:27541980 PMID:28196407 PMID:28300276 PMID:28371217 PMID:28400895 PMID:28492532 PMID:28592321 PMID:28747166 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29423582 PMID:29456767 PMID:29641532 PMID:29893455 PMID:29909963 PMID:30050099 PMID:30548481 PMID:30741757 PMID:30761759 PMID:30877234 PMID:30967997 PMID:31444830 PMID:31636096 PMID:31746132 PMID:31794323 PMID:31831373 PMID:32008151 PMID:32012241 PMID:32371905 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33125697 PMID:33166576 PMID:33362715 PMID:33397043 PMID:33439686 PMID:33789101 PMID:33858029 PMID:34337822 PMID:34643235 PMID:34994643 PMID:35993574 PMID:36773955 More...
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NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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G |
Kmo |
kynurenine 3-monooxygenase |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
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NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
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G |
Opn3 |
opsin 3 |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
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NCBI chr13:87,589,333...87,619,847
Ensembl chr13:87,589,333...87,619,847
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G |
Pld5 |
phospholipase D family, member 5 |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
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NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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G |
Wdr64 |
WD repeat domain 64 |
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ISO |
ClinVar Annotator: match by term: Fumarase deficiency |
ClinVar |
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
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NCBI chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327
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G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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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 |
Bclaf3 |
BCLAF1 and THRAP3 family member 3 |
|
ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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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: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:33,365,748...33,389,773
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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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 |
Eif1ax |
eukaryotic translation initiation factor 1A, X-linked |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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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 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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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 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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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 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:32,553,300...32,892,961
Ensembl chr X:32,552,026...32,889,992
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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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 |
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ISO IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I DNA:mutations:multiple DNA:missense mutations:multiple |
OMIM CTD ClinVar RGD |
PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 PMID:8733133 PMID:8733134 PMID:9536098 PMID:9600238 PMID:9835437 PMID:9870210 PMID:10330341 PMID:11286390 PMID:12862311 PMID:16199547 PMID:17304053 PMID:17576681 PMID:17689125 PMID:18076117 PMID:19763152 PMID:20307669 PMID:21634085 PMID:21646031 PMID:21857251 PMID:21911307 PMID:22406018 PMID:22899091 PMID:23578772 PMID:24055370 PMID:25070466 PMID:25266922 PMID:25315662 PMID:25741868 PMID:25741869 PMID:26157701 PMID:26944031 PMID:27103379 PMID:28085675 PMID:28283841 PMID:28468868 PMID:28492532 PMID:28600779 PMID:28627441 PMID:30659246 PMID:30945684 PMID:31248825 PMID:31508908 PMID:31987065 PMID:32244026 PMID:32387637 PMID:34117828 PMID:34277355 PMID:28627441 PMID:8733134 PMID:28283841 More...
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RGD:26884355, RGD:26884354, RGD:26884353 |
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: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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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 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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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 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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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 |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:33,962,440...33,992,203
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: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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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 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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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: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
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G |
Abcc12 |
ATP binding cassette subfamily C member 12 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:20,549,298...20,621,991
Ensembl chr19:20,549,405...20,620,734
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G |
C19h16orf87 |
similar to human chromosome 16 open reading frame 87 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:21,626,390...21,653,869
Ensembl chr19:21,626,914...21,654,255
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G |
Dnaja2 |
DnaJ heat shock protein family (Hsp40) member A2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:21,497,792...21,516,904
Ensembl chr19:21,497,729...21,516,901
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G |
Gpt2 |
glutamic--pyruvic transaminase 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
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G |
Itfg1 |
integrin alpha FG-GAP repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:21,210,697...21,331,285
Ensembl chr19:21,210,733...21,331,279
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G |
Mylk3 |
myosin light chain kinase 3 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:21,685,085...21,743,587
Ensembl chr19:21,691,929...21,742,954
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G |
Neto2 |
neuropilin and tolloid like 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:21,344,299...21,415,524
Ensembl chr19:21,344,289...21,417,023
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G |
Orc6 |
origin recognition complex, subunit 6 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662
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G |
Phkb |
phosphorylase kinase regulatory subunit beta |
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ISO ISS |
OMIM:261750 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glycogen storage disease IXb |
OMIM MouseDO CTD ClinVar |
PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 PMID:16199547 PMID:17576681 PMID:17689125 PMID:18950708 PMID:21646031 PMID:25070466 PMID:25640679 PMID:25741868 PMID:26526422 PMID:26913919 PMID:28492532 PMID:30919572 PMID:31508908 PMID:33782433 PMID:33858366 PMID:34093448 More...
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NCBI chr19:21,013,719...21,210,671
Ensembl chr19:21,025,733...21,210,633
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G |
Vps35 |
VPS35 retromer complex component |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618
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G |
Phkg2 |
phosphorylase kinase catalytic subunit gamma 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc |
OMIM CTD ClinVar |
PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 PMID:9536098 PMID:10905889 PMID:12930917 PMID:16199547 PMID:17576681 PMID:17689125 PMID:21646031 PMID:22899091 PMID:24102521 PMID:24389071 PMID:25266922 PMID:25741868 PMID:27207549 PMID:28492532 PMID:32697758 More...
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NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
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G |
Phka1 |
phosphorylase kinase regulatory subunit alpha 1 |
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ISO ISS |
OMIM:300559 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glycogen storage disease IXd |
OMIM MouseDO CTD ClinVar |
PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 PMID:12825073 PMID:15637709 PMID:16199547 PMID:17576681 PMID:18401027 PMID:22238410 PMID:25640679 PMID:25741868 PMID:26242992 PMID:28492532 PMID:29667327 PMID:32528171 More...
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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 |
C18h18orf32 |
similar to human chromosome 18 open reading frame 32 |
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ISO |
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OMIM |
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NCBI chr18:68,586,278...68,594,851
Ensembl chr18:68,586,211...68,596,787
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G |
Iars1 |
isoleucyl-tRNA synthetase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy |
OMIM CTD ClinVar |
PMID:24706940 PMID:25741868 PMID:27426735 PMID:27891590 PMID:28492532 |
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NCBI chr17:14,940,919...14,987,277
Ensembl chr17:14,940,924...14,987,237
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G |
Il6 |
interleukin 6 |
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ISO |
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RGD |
PMID:30684712 |
RGD:14975126 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Bcas3 |
BCAS3, microtubule associated cell migration factor |
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ISO |
ClinVar Annotator: match by term: Hengel-Maroofian-Schols syndrome |
OMIM ClinVar |
PMID:25741868 PMID:34022130 |
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NCBI chr10:70,213,710...70,673,080
Ensembl chr10:70,214,098...70,673,080
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G |
Col4a1 |
collagen type IV alpha 1 chain |
susceptibility |
ISO |
ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | ClinVar Annotator: match by term: HANAC-like syndrome CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:1867713 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608 PMID:16159887 PMID:17030722 PMID:17078022 PMID:17576681 PMID:18077766 PMID:18160688 PMID:19344236 PMID:19477666 PMID:20301768 PMID:20385946 PMID:20733150 PMID:20818663 PMID:21527998 PMID:21625620 PMID:22522439 PMID:22574627 PMID:22914737 PMID:23065703 PMID:23225343 PMID:24374867 PMID:24628545 PMID:25228067 PMID:25457163 PMID:25741868 PMID:26310487 PMID:26467025 PMID:27794444 PMID:28492532 PMID:29602769 PMID:30413629 PMID:30653986 PMID:31051113 PMID:31230195 PMID:31719132 PMID:31915071 PMID:31922066 PMID:33353976 PMID:33527515 PMID:33532864 More...
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NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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G |
Col4a2 |
collagen type IV alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps |
ClinVar |
PMID:25741868 |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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G |
Glra1 |
glycine receptor, alpha 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Hyperekplexia |
ClinVar MouseDO |
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NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162
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G |
Glrb |
glycine receptor, beta |
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ISO |
ClinVar Annotator: match by term: Hyperekplexia |
ClinVar |
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NCBI chr 2:166,134,616...166,207,498
Ensembl chr 2:166,134,626...166,207,489
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G |
Gphn |
gephyrin |
|
ISO |
ClinVar Annotator: match by term: Kok disease |
ClinVar |
PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 |
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NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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G |
Slc6a5 |
solute carrier family 6 member 5 |
|
ISO |
ClinVar Annotator: match by term: Hyperekplexia |
ClinVar |
PMID:16884688 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010
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G |
Glra1 |
glycine receptor, alpha 1 |
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ISO ISS |
OMIM:149400 ClinVar Annotator: match by term: Hyperekplexia 1 |
OMIM MouseDO ClinVar |
PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 PMID:7981700 PMID:8298642 PMID:8571969 PMID:8651283 PMID:8733061 PMID:9009272 PMID:9067762 PMID:9920650 PMID:10817489 PMID:11389164 PMID:11702206 PMID:11781706 PMID:11973623 PMID:12746425 PMID:15771552 PMID:16078201 PMID:16236274 PMID:16832093 PMID:17536053 PMID:18043720 PMID:19073849 PMID:20631190 PMID:22264702 PMID:24033266 PMID:24108130 PMID:25333069 PMID:25568133 PMID:25741868 PMID:26733802 PMID:28122427 PMID:28138086 PMID:28492532 PMID:28617419 PMID:28879899 PMID:28985719 More...
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NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162
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G |
Gphn |
gephyrin |
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ISO |
ClinVar Annotator: match by term: Hyperekplexia 1 |
ClinVar |
PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 |
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NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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Glrb |
glycine receptor, beta |
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ISO ISS |
OMIM:614619 ClinVar Annotator: match by term: Hyperekplexia 2 |
OMIM MouseDO ClinVar |
PMID:9536098 PMID:11929858 PMID:16199547 PMID:17576681 PMID:21391991 PMID:22532536 PMID:23182654 PMID:23184146 PMID:25640679 PMID:25741868 PMID:28492532 PMID:32911248 PMID:33323420 More...
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NCBI chr 2:166,134,616...166,207,498
Ensembl chr 2:166,134,626...166,207,489
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G |
Slc6a5 |
solute carrier family 6 member 5 |
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ISO ISS |
OMIM:614618 ClinVar Annotator: match by term: Hyperekplexia 3 |
OMIM MouseDO ClinVar |
PMID:9536098 PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 PMID:17576681 PMID:18707791 PMID:20301437 PMID:21515498 PMID:22114948 PMID:22700964 PMID:22753417 PMID:24033266 PMID:25640679 PMID:25741868 PMID:28492532 PMID:29859229 PMID:31370103 PMID:31604777 PMID:32714574 PMID:33310157 PMID:33794243 More...
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NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010
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G |
Atad1 |
ATPase family, AAA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Hyperekplexia 4 |
OMIM ClinVar |
PMID:25741868 PMID:28180185 PMID:28492532 PMID:29390050 PMID:29659736 PMID:33134516 More...
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NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
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G |
Ebf3 |
EBF transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:19627984 PMID:20300201 PMID:25741868 PMID:28017370 PMID:28017372 PMID:28017373 PMID:28487885 PMID:28492532 PMID:29062322 PMID:29162653 PMID:30145808 PMID:31952901 PMID:32366537 PMID:32581362 PMID:32637629 PMID:33102976 PMID:33956416 PMID:35340043 More...
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NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359
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G |
Ctbp1 |
C-terminal binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome |
OMIM ClinVar |
PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29878067 PMID:31041561 More...
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NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
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G |
Camkmt |
calmodulin-lysine N-methyltransferase |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:606407 |
CTD MouseDO |
PMID:26247364 |
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NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
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G |
Ppm1b |
protein phosphatase, Mg2+/Mn2+ dependent, 1B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
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NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974
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G |
Prepl |
prolyl endopeptidase-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
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NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
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G |
Slc3a1 |
solute carrier family 3 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
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NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
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G |
Ccdc174 |
coiled-coil domain containing 174 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation |
OMIM CTD ClinVar |
PMID:25741868 PMID:26358778 PMID:28492532 |
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NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035
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G |
Nalcn |
sodium leak channel, non-selective |
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ISO |
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies |
ClinVar |
PMID:25741868 |
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NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
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G |
Unc80 |
unc-80 homolog, NALCN channel complex subunit |
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ISO |
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28492532 More...
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NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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G |
Nalcn |
sodium leak channel, non-selective |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human) DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human) |
OMIM CTD ClinVar RGD |
PMID:23749988 PMID:24075186 PMID:25741868 PMID:28492532 PMID:29168298 PMID:29610177 PMID:30167850 PMID:30293248 PMID:24075186 PMID:23749988 More...
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RGD:12914762, RGD:12911215 |
NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
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G |
Unc80 |
unc-80 homolog, NALCN channel complex subunit |
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ISO |
DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human) ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:25741873 PMID:26545877 PMID:26708751 PMID:26708753 PMID:28492532 PMID:28708303 PMID:29430593 PMID:30167850 PMID:30771478 PMID:31130284 PMID:31607746 PMID:31785789 PMID:31839005 PMID:32712949 PMID:26545877 More...
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RGD:11528248 |
NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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Tbck |
TBC1 domain containing kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 PMID:27275012 PMID:28492532 PMID:29283439 PMID:30103036 PMID:30542205 PMID:30577886 PMID:31618753 PMID:32576985 PMID:32860008 PMID:34298581 More...
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NCBI chr 2:221,175,749...221,348,058
Ensembl chr 2:221,175,785...221,348,126
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G |
Cdk8 |
cyclin-dependent kinase 8 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia and behavioral abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:30905399 |
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NCBI chr12:8,737,198...8,805,026
Ensembl chr12:8,737,262...8,804,177
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G |
Tnpo2 |
transportin 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:34314705 |
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NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
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G |
Abcc9 |
ATP binding cassette subfamily C member 9 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome |
OMIM ClinVar |
PMID:1575858 PMID:9536098 PMID:15034580 PMID:17576681 PMID:24033266 PMID:24439875 PMID:25741868 PMID:26112015 PMID:28492532 PMID:29016939 PMID:30177324 PMID:30662450 PMID:30821013 PMID:30975432 PMID:31130284 PMID:31575858 PMID:31983221 PMID:32622958 PMID:33500567 PMID:34076677 PMID:35653365 More...
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NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Joubert syndrome 10 DNA:duplication:exon:2122-2125dup (human) DNA:deletions:exon:c.2841_2847del, c.2767del (human) |
OMIM CTD ClinVar RGD |
PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 PMID:24884629 PMID:25741868 PMID:26092869 PMID:27081566 PMID:28492532 PMID:30401917 PMID:35112477 PMID:16783569 PMID:19800048 More...
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RGD:11535965, RGD:11535963 |
NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO ISS |
DNA:missense mutation, nonsense mutations:exon:multiple ClinVar Annotator: match by term: Joubert syndrome 3 OMIM:608629 CTD Direct Evidence: marker/mechanism DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human) DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human) DNA:nonsense mutation:cds:c.910dup (human) DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 PMID:16240161 PMID:16453322 PMID:16541367 PMID:17377524 PMID:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:21068128 PMID:21623382 PMID:21866095 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 PMID:23532844 PMID:24033266 PMID:24690944 PMID:25326637 PMID:25356976 PMID:25445212 PMID:25525159 PMID:25558065 PMID:25616960 PMID:25741868 PMID:25741869 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26541515 PMID:28041643 PMID:28097321 PMID:28118669 PMID:28125082 PMID:28431631 PMID:28442542 PMID:28492532 PMID:29186038 PMID:29343940 PMID:30055837 PMID:31130284 PMID:31624253 PMID:32165824 PMID:32865313 PMID:34191236 PMID:34906502 PMID:16155189 PMID:18268248 PMID:21623382 PMID:15322546 PMID:26541515 PMID:16453322 PMID:15467982 PMID:18054307 More...
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RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 |
NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 3 |
ClinVar |
PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 5 |
ClinVar |
PMID:9054934 PMID:9295268 PMID:9973280 PMID:10958763 PMID:11017087 PMID:12037008 PMID:12796258 PMID:16103129 PMID:18285826 PMID:19074458 PMID:19217903 PMID:20696155 PMID:21786275 PMID:22025579 PMID:22264887 PMID:22312191 PMID:22427542 PMID:22661473 PMID:23755871 PMID:23769331 PMID:24033266 PMID:24265693 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25640233 PMID:25712131 PMID:25741868 PMID:25921964 PMID:26527198 PMID:26593885 PMID:26780318 PMID:27535533 PMID:28041643 PMID:28118664 PMID:28130426 PMID:28181551 PMID:28327576 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29555955 PMID:29847635 PMID:29925512 PMID:30060493 PMID:30718709 PMID:31522899 PMID:33223529 PMID:33546218 PMID:34008892 PMID:92952680 More...
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NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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G |
Cep290 |
centrosomal protein 290 |
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ISO ISS |
ClinVar Annotator: match by term: Joubert syndrome 5 OMIM:610188 CTD Direct Evidence: marker/mechanism DNA:SNPs:multiple (human) DNA:frameshift mutations, nonsense mutations:CDS:multiple (human) DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple DNA:deletions, insertion: :multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17705300 PMID:17964524 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22446187 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:24850569 PMID:25097241 PMID:25324289 PMID:25377065 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26673778 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27491411 PMID:27848944 PMID:28041643 PMID:28157192 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28844315 PMID:28912962 PMID:29146704 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29620724 PMID:29641573 PMID:29754767 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30902645 PMID:31091803 PMID:31624253 PMID:31630094 PMID:31734136 PMID:31816670 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32208788 PMID:32581362 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33970760 PMID:34196655 PMID:34795310 PMID:36909829 PMID:27434533 PMID:17564967 PMID:17617513 PMID:17409309 More...
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RGD:329902080, RGD:329853747, RGD:11537352, RGD:7246903 |
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 5 |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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G |
Slc12a2 |
solute carrier family 12 member 2 |
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ISO |
ClinVar Annotator: match by term: Kilquist syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30740830 PMID:32658972 PMID:32754646 |
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NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440
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G |
Pip5k1c |
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 |
OMIM CTD ClinVar |
PMID:17701898 PMID:25741868 |
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NCBI chr 7:8,397,406...8,426,030
Ensembl chr 7:8,397,406...8,425,988
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G |
Eif2ak1 |
eukaryotic translation initiation factor 2 alpha kinase 1 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome |
ClinVar OMIM |
PMID:25741868 PMID:32197074 |
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NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573
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G |
C5h1orf167 |
similar to human chromosome 1 open reading frame 167 |
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ISO |
ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 5:158,495,514...158,505,671
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G |
Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 PMID:7647779 PMID:7726158 PMID:7741859 PMID:7920641 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8940272 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9536098 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9781030 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10551815 PMID:10677336 PMID:10679944 PMID:10732818 PMID:10767000 PMID:10869114 PMID:10923034 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11418485 PMID:11590551 PMID:11710708 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12673793 PMID:12733064 PMID:12796225 PMID:12840091 PMID:12915598 PMID:15048559 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16172608 PMID:16199547 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17350979 PMID:17409006 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17576681 PMID:17726486 PMID:17898028 PMID:18381794 PMID:18458567 PMID:18523009 PMID:18583979 PMID:18704422 PMID:18854913 PMID:19031955 PMID:19648163 PMID:19810817 PMID:20154341 PMID:20236116 PMID:20356773 PMID:20472929 PMID:20490923 PMID:20514079 PMID:20595278 PMID:20863444 PMID:21131308 PMID:21387541 PMID:21480888 PMID:21534867 PMID:21644011 PMID:21778025 PMID:21931346 PMID:22074251 PMID:22143415 PMID:22887477 PMID:22947400 PMID:22992668 PMID:23089671 PMID:23095111 PMID:23488607 PMID:23526309 PMID:23648444 PMID:24033266 PMID:24241962 PMID:24726568 PMID:24797679 PMID:24908438 PMID:24997712 PMID:25007187 PMID:25024447 PMID:25079578 PMID:25110820 PMID:25162892 PMID:25177243 PMID:25227144 PMID:25303299 PMID:25736335 PMID:25741868 PMID:25758715 PMID:25778468 PMID:25856670 PMID:26025547 PMID:26872964 PMID:26898294 PMID:27104192 PMID:27118298 PMID:27217051 PMID:27399166 PMID:27527345 PMID:27743313 PMID:27768236 PMID:27781293 PMID:27992285 PMID:28241805 PMID:28492532 PMID:28514598 PMID:28696419 PMID:29246599 PMID:29391032 PMID:29589488 PMID:29911750 PMID:30684021 PMID:31068897 PMID:31462756 PMID:31870219 PMID:32161077 PMID:32230794 PMID:32451826 PMID:32612964 PMID:32695297 PMID:32939339 PMID:33089527 PMID:34015165 PMID:34214447 PMID:36901693 More...
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NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Zc4h2 |
zinc finger C4H2-type containing |
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ISO |
ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 PMID:19377476 PMID:23623388 PMID:25644381 PMID:25741868 PMID:26056227 PMID:28492532 PMID:28814648 PMID:31206972 PMID:32860008 More...
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NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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G |
Ano5 |
anoctamin 5 |
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ISO |
ClinVar Annotator: match by term: Miyoshi myopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32367299 More...
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NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
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G |
Dysf |
dysferlin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive |
CTD ClinVar |
PMID:12796534 PMID:14678801 PMID:15469449 PMID:15535137 PMID:17512949 PMID:17868276 PMID:17897828 PMID:18832576 PMID:18853459 PMID:19493611 PMID:20535123 PMID:21522182 PMID:22046204 PMID:22297152 PMID:24033266 PMID:24239059 PMID:24438169 PMID:24838345 PMID:25525159 PMID:25741868 PMID:25868377 PMID:25987458 PMID:26077327 PMID:26290895 PMID:26467025 PMID:27365461 PMID:27666772 PMID:28492532 PMID:30107846 PMID:30564623 PMID:32528171 PMID:34906502 More...
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NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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G |
Dysf |
dysferlin |
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ISO |
ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 |
OMIM ClinVar |
PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 PMID:9731526 PMID:10196377 PMID:10825360 PMID:11053681 PMID:11468312 PMID:11532985 PMID:12410383 PMID:12796534 PMID:14678801 PMID:15293763 PMID:15469449 PMID:15835269 PMID:16010686 PMID:16087766 PMID:16100712 PMID:16199547 PMID:16891820 PMID:16934466 PMID:16996541 PMID:17070050 PMID:17287450 PMID:17512949 PMID:17576681 PMID:17698709 PMID:17825554 PMID:17897828 PMID:17932988 PMID:17994539 PMID:18276788 PMID:18306167 PMID:18832576 PMID:18853459 PMID:19084402 PMID:19493611 PMID:19528035 PMID:20301480 PMID:20535123 PMID:20544924 PMID:20558759 PMID:20623375 PMID:21484829 PMID:21522182 PMID:21816046 PMID:22046204 PMID:22174839 PMID:22194990 PMID:22246893 PMID:22297152 PMID:22849992 PMID:22910291 PMID:22995991 PMID:23243261 PMID:23757202 PMID:24033266 PMID:24123366 PMID:24239059 PMID:24438169 PMID:24488599 PMID:24838345 PMID:25133958 PMID:25135358 PMID:25312915 PMID:25373139 PMID:25493284 PMID:25525159 PMID:25574751 PMID:25591676 PMID:25741868 PMID:25783436 PMID:25807536 PMID:25821721 PMID:25868377 PMID:26000923 PMID:26060040 PMID:26077327 PMID:26088049 PMID:26290895 PMID:26404900 PMID:26467025 PMID:26579332 PMID:26806107 PMID:26916285 PMID:27066573 PMID:27363342 PMID:27365461 PMID:27447704 PMID:27602406 PMID:27641898 PMID:27647186 PMID:27666772 PMID:27854218 PMID:27858744 PMID:27884173 PMID:28403181 PMID:28492532 PMID:28904466 PMID:29382405 PMID:29970176 PMID:30028523 PMID:30366248 PMID:30564623 PMID:30919934 PMID:31019989 PMID:31066050 PMID:31475473 PMID:31589614 PMID:31931849 PMID:32400077 PMID:32528171 PMID:32751317 PMID:33610434 PMID:33715265 PMID:33927379 PMID:34559919 PMID:35047756 More...
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NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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G |
Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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G |
Ano5 |
anoctamin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3 DNA:duplication, missense mutation:exon:c.191dupA, p.R758C (c.2272C>T) (human) |
OMIM CTD ClinVar RGD |
PMID:9673985 PMID:17132147 PMID:18414213 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23193613 PMID:23530687 PMID:23606453 PMID:23607914 PMID:23663589 PMID:23670307 PMID:23757202 PMID:24022920 PMID:24033266 PMID:24232312 PMID:24803842 PMID:24843231 PMID:25046369 PMID:25135358 PMID:25741868 PMID:25864073 PMID:25891276 PMID:26467025 PMID:26838040 PMID:26886200 PMID:27447704 PMID:27671536 PMID:27708273 PMID:27854218 PMID:27862037 PMID:27911336 PMID:28176803 PMID:28187523 PMID:28492532 PMID:28888072 PMID:30564623 PMID:30919934 PMID:31350120 PMID:31353849 PMID:31395899 PMID:31589614 PMID:32112655 PMID:32528171 PMID:33963534 PMID:34008892 PMID:20096397 More...
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RGD:11570558 |
NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
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G |
Pign |
phosphatidylinositol glycan anchor biosynthesis, class N |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome |
ClinVar |
PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26394714 PMID:27038415 PMID:28492532 PMID:30293990 PMID:30609409 More...
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NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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G |
Bcl2 |
BCL2, apoptosis regulator |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Kdsr |
3-ketodihydrosphingosine reductase |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
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G |
Phlpp1 |
PH domain and leucine rich repeat protein phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:22,308,532...22,530,978
Ensembl chr13:22,308,548...22,530,977
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G |
Pign |
phosphatidylinositol glycan anchor biosynthesis, class N |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 PMID:18606301 PMID:21493957 PMID:22271396 PMID:24033266 PMID:24253414 PMID:24852103 PMID:25640679 PMID:25741868 PMID:26364997 PMID:26394714 PMID:26419326 PMID:26467025 PMID:26539891 PMID:26633542 PMID:26879448 PMID:26964041 PMID:27038415 PMID:27290639 PMID:27891564 PMID:28273706 PMID:28327575 PMID:28492532 PMID:29096607 PMID:29330547 PMID:30293990 PMID:30609409 PMID:30660939 PMID:30665423 PMID:31440721 PMID:31628766 PMID:32220244 PMID:32860008 PMID:33193741 PMID:33502061 PMID:33619735 PMID:33763700 PMID:34051595 PMID:34426522 PMID:34782754 PMID:34906502 PMID:35179230 PMID:35468813 More...
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NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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G |
Relch |
RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807
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G |
Serpinb10 |
serpin family B member 10 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,553,348...23,571,182
Ensembl chr13:23,553,430...23,571,182
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G |
Serpinb11 |
serpin family B member 11 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,304,775...23,344,604
Ensembl chr13:23,304,456...23,344,604
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G |
Serpinb12 |
serpin family B member 12 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,052,384...23,083,691
Ensembl chr13:23,052,448...23,083,691
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G |
Serpinb13 |
serpin family B member 13 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,118,582...23,150,352
Ensembl chr13:23,118,584...23,150,760
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G |
Serpinb2 |
serpin family B member 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
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G |
Serpinb3 |
serpin family B member 3 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682
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G |
Serpinb3a |
serpin family B member 3A |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,241,303...23,246,328
Ensembl chr13:23,236,972...23,246,985
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G |
Serpinb5 |
serpin family B member 5 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756
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G |
Serpinb7 |
serpin family B member 7 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
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G |
Serpinb8 |
serpin family B member 8 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,626,936...23,650,277
Ensembl chr13:23,626,945...23,650,835
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G |
Tnfrsf11a |
TNF receptor superfamily member 11A |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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G |
Vps4b |
vacuolar protein sorting 4 homolog B |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:22,907,105...22,932,200
Ensembl chr13:22,907,109...22,932,229
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G |
Zcchc2 |
zinc finger CCHC-type containing 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:22,118,677...22,193,626
Ensembl chr13:22,119,568...22,166,373
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G |
Ace2 |
angiotensin I converting enzyme 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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G |
Ap1s2 |
adaptor related protein complex 1 subunit sigma 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
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G |
Asb11 |
ankyrin repeat and SOCS box containing 11 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,014,485...30,037,808
Ensembl chr X:29,992,416...30,037,807
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G |
Asb9 |
ankyrin repeat and SOCS box-containing 9 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:29,956,576...30,001,436
Ensembl chr X:29,956,576...30,001,105
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G |
Bmx |
BMX non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,227,251...30,290,015
Ensembl chr X:30,227,251...30,289,993
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G |
Car5b |
carbonic anhydrase 5B |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,474,697...30,534,797
Ensembl chr X:30,474,784...30,533,837
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G |
Cltrn |
collectrin, amino acid transport regulator |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,361,967...30,395,264
Ensembl chr X:30,361,967...30,395,349
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G |
Fancb |
FA complementation group B |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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G |
Mospd2 |
motile sperm domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:29,420,485...29,472,099
Ensembl chr X:29,420,586...29,462,398
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Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:9536098 PMID:10087994 PMID:15307104 PMID:17576681 PMID:19377476 PMID:22305531 PMID:24259184 PMID:24259288 PMID:24357517 PMID:24706016 PMID:24759409 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26545172 PMID:27353043 PMID:28133863 PMID:28441409 PMID:28492532 PMID:29159939 PMID:29310717 PMID:29314583 PMID:29656098 PMID:31164858 PMID:31175295 PMID:31618474 PMID:31704190 PMID:32176464 PMID:32220244 PMID:32452540 PMID:32694024 PMID:33333793 PMID:33763700 PMID:34355501 PMID:34782754 More...
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NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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Pir |
pirin |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218
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Vegfd |
vascular endothelial growth factor D |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
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Zrsr2 |
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder |
OMIM CTD ClinVar |
PMID:9934988 PMID:16199547 PMID:23636107 PMID:24906948 PMID:25741868 PMID:25943031 PMID:27916860 PMID:28327575 PMID:28492532 PMID:28728837 PMID:30813157 PMID:30976099 PMID:32220244 PMID:32404165 PMID:32581362 PMID:32725661 PMID:34046058 PMID:36177944 More...
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NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 |
OMIM ClinVar |
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31148362 PMID:32588908 PMID:32746448 More...
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NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
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Dmd |
dystrophin |
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ISO |
ClinVar Annotator: match by term: Muscle cramps |
ClinVar |
PMID:16770791 PMID:17253928 PMID:25007885 PMID:25741868 PMID:28492532 PMID:34106991 More...
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NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Bcan |
brevican |
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ISO |
Episodic falling |
OMIA |
PMID:3680644 PMID:3716135 PMID:6868317 PMID:15971896 PMID:21821125 PMID:22253609 PMID:25441627 PMID:30650096 PMID:36086931 More...
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NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
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Oxt |
oxytocin/neurophysin I prepropeptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2862618 |
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NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
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Abat |
4-aminobutyrate aminotransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10407778 |
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NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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Abcc8 |
ATP binding cassette subfamily C member 8 |
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ISO |
ClinVar Annotator: match by term: Neonatal hypotonia |
ClinVar |
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 More...
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NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Acot1 |
acyl-CoA thioesterase 1 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
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NCBI chr 6:103,636,173...103,644,167
Ensembl chr 6:103,636,041...103,644,163
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Ahdc1 |
AT hook, DNA binding motif, containing 1 |
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ISO |
ClinVar Annotator: match by term: poor muscle tone |
ClinVar |
PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 |
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NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
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Aimp1 |
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypotonia |
ClinVar |
PMID:25741868 |
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NCBI chr 2:221,151,907...221,175,458
Ensembl chr 2:221,151,904...221,175,728
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Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: poor muscle tone |
ClinVar |
PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26482601 PMID:28492532 PMID:28778787 PMID:28887793 PMID:28940310 PMID:32238909 PMID:32681751 PMID:33734437 More...
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NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695
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Ankle2 |
ankyrin repeat and LEM domain containing 2 |
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ISO |
ClinVar Annotator: match by term: poor muscle tone |
ClinVar |
PMID:25741868 |
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NCBI chr12:46,418,142...46,451,304
Ensembl chr12:46,417,759...46,500,514
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Asxl3 |
ASXL transcriptional regulator 3 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:32581362 |
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NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427
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Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: Neonatal hypotonia |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Neonatal hypotonia |
ClinVar |
PMID:10995512 PMID:21505078 PMID:22129561 PMID:25741868 PMID:28492532 |
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
chromosome 12 open reading frame 4 |
similar to human |
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ISO |
ClinVar Annotator: match by term: poor muscle tone |
ClinVar |
PMID:25558065 PMID:27311568 |
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NCBI chr 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20842734 |
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NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
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Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:8364588 PMID:25741868 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Cpt2 |
carnitine palmitoyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 PMID:15642848 PMID:16615913 PMID:18550408 PMID:18925671 PMID:24398345 PMID:24602495 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34063237 More...
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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Des |
desmin |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia ClinVar Annotator: match by term: Neonatal hypotonia |
ClinVar |
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32268277 PMID:32403337 More...
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NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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G |
Dhcr7 |
7-dehydrocholesterol reductase |
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ISO |
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RGD |
PMID:11230174 |
RGD:734884 |
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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G |
Dmap1 |
DNA methyltransferase 1-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
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NCBI chr 5:131,143,726...131,151,760
Ensembl chr 5:131,143,729...131,151,742
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Neonatal hypotonia |
ClinVar |
PMID:25741868 |
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Ebf3 |
EBF transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone |
ClinVar |
PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043 |
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NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359
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G |
Exosc3 |
exosome component 3 |
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ISO |
ClinVar Annotator: match by term: Hypotonia |
ClinVar |
PMID:22544365 PMID:23564332 PMID:23883322 PMID:23975261 PMID:24524299 PMID:24970098 PMID:25149867 PMID:25326635 PMID:25533962 PMID:25741868 PMID:27146152 PMID:27777260 PMID:28492532 PMID:28687512 PMID:29186371 PMID:29444210 PMID:29656927 PMID:30986545 More...
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NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
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G |
Fkbp14 |
FKBP prolyl isomerase 14 |
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ISO |
ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone |
ClinVar |
PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 PMID:33587123 More...
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NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: poor muscle tone |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Gan |
gigaxonin |
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ISO |
ClinVar Annotator: match by term: Hypotonia |
ClinVar |
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NCBI chr19:45,207,783...45,265,066
Ensembl chr19:45,207,184...45,254,107
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G |
Gnb1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: poor muscle tone |
ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:27759915 PMID:28087732 PMID:28492532 PMID:29694806 PMID:30194818 PMID:30504930 PMID:31735425 PMID:32134617 PMID:32918542 PMID:32963807 PMID:35253369 PMID:36405774 More...
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Hace1 |
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:26424145 PMID:26437029 PMID:28492532 PMID:32581362 |
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NCBI chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103
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G |
Heatr4 |
HEAT repeat containing 4 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
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NCBI chr 6:103,574,360...103,611,578
Ensembl chr 6:103,574,366...103,612,100
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Herc2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Neonatal hypotonia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
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G |
Hnrnpk |
heterogeneous nuclear ribonucleoprotein K |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:25741868 |
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NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
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G |
Jak3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Neonatal hypotonia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22544363 PMID:22544367 |
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NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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G |
Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514 |
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NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
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G |
Kcnq1 |
potassium voltage-gated channel subfamily Q member 1 |
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ISO |
ClinVar Annotator: match by term: Neonatal hypotonia |
ClinVar |
PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19716085 PMID:19841300 PMID:22581653 PMID:22949429 PMID:23392653 PMID:23631430 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:26669661 PMID:27831900 PMID:28492532 PMID:30755392 PMID:31447099 More...
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NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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G |
Lama2 |
laminin subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Hypotonia |
ClinVar |
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NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
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G |
Letm1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14706454 |
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NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
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G |
Lipt1 |
lipoyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: poor muscle tone |
ClinVar |
PMID:25741868 PMID:27247813 PMID:28492532 PMID:33531667 |
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NCBI chr 9:40,107,938...40,118,268
Ensembl chr 9:40,098,615...40,113,565
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G |
Mbd5 |
methyl-CpG binding domain protein 5 |
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ISO |
ClinVar Annotator: match by term: Hypotonia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19559301 |
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Mitd1 |
microtubule interacting and trafficking domain containing 1 |
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ISO |
ClinVar Annotator: match by term: poor muscle tone |
ClinVar |
PMID:25741868 PMID:27247813 PMID:28492532 PMID:33531667 |
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NCBI chr 9:40,113,943...40,125,280
Ensembl chr 9:40,113,946...40,125,289
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G |
Mtm1 |
myotubularin 1 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:25741868 |
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NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860
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G |
Pde10a |
phosphodiesterase 10A |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:27058446 PMID:32581362 |
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NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
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G |
Pde2a |
phosphodiesterase 2A |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:25741868 PMID:32467598 |
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NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Hypotonia |
ClinVar |
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Neonatal hypotonia |
ClinVar |
PMID:25741868 |
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NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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G |
Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: Hypotonia |
ClinVar |
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NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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G |
Pura |
purine rich element binding protein A |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia |
ClinVar |
PMID:25439098 PMID:25741868 PMID:28448108 PMID:28492532 PMID:32860008 PMID:34008892 More...
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NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513
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G |
Ralgapa1 |
Ral GTPase activating protein catalytic subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:32004447 |
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NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138848 |
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Snap25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Unilateral Hypotonia |
ClinVar |
PMID:25741868 PMID:33299146 |
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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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Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Neonatal hypotonia |
ClinVar |
PMID:19020799 PMID:19953625 PMID:21387466 PMID:21784453 PMID:23487764 PMID:23673306 PMID:24033266 PMID:24803665 PMID:25741868 PMID:25862627 PMID:26918529 PMID:28492532 PMID:29493581 PMID:31292302 PMID:32333414 PMID:34008892 PMID:34163525 More...
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NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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G |
Sox5 |
SRY-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:25741868 |
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NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
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G |
Sp9 |
Sp9 transcription factor |
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ISO |
ClinVar Annotator: match by term: Muscular hypotonia |
ClinVar |
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NCBI chr 3:58,146,826...58,149,357
Ensembl chr 3:58,146,826...58,149,357
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G |
Srd5a3 |
steroid 5 alpha-reductase 3 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647 More...
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NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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Tamm41 |
TAM41 mitochondrial translocator assembly and maintenance homolog |
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ISO |
ClinVar Annotator: match by term: Neonatal hypotonia |
ClinVar |
PMID:35321494 |
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NCBI chr 4:148,070,388...148,103,728
Ensembl chr 4:148,018,463...148,103,694
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G |
Tbr1 |
T-box brain transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041
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G |
Tcf20 |
transcription factor 20 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
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NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
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G |
Tspan1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Hypotonia |
ClinVar |
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NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: poor muscle tone |
ClinVar |
PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 PMID:26467025 PMID:26498160 PMID:28492532 PMID:28750076 PMID:29961767 More...
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Usp2 |
ubiquitin specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Facial hypotonia |
ClinVar |
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NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
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G |
Usp7 |
ubiquitin specific peptidase 7 |
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ISO |
ClinVar Annotator: match by term: Hypotonia |
ClinVar |
PMID:25741868 |
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NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355
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G |
Vars1 |
valyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Generalized hypotonia |
ClinVar |
PMID:25741868 PMID:30275004 |
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NCBI chr20:3,805,774...3,820,468
Ensembl chr20:3,805,776...3,820,298
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G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15570195 |
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NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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G |
Gch1 |
GTP cyclohydrolase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17368676 |
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NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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G |
Npy |
neuropeptide Y |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:10675796 |
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NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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G |
Nts |
neurotensin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8036282 |
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NCBI chr 7:37,564,944...37,574,350
Ensembl chr 7:37,564,533...37,574,423
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G |
Pde8b |
phosphodiesterase 8B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20085714 |
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NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
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G |
Adra2a |
adrenoceptor alpha 2A |
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IEP |
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RGD |
PMID:21871540 |
RGD:6480106 |
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
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G |
Cnr1 |
cannabinoid receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17220914 |
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NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
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G |
Ddhd1 |
DDHD domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Spasticity |
ClinVar |
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NCBI chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952
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G |
Dmxl2 |
Dmx-like 2 |
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ISO |
ClinVar Annotator: match by term: Spasticity |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161
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G |
Fat1 |
FAT atypical cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Spasticity |
ClinVar |
PMID:25741868 |
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NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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G |
Nsrp1 |
nuclear speckle splicing regulatory protein 1 |
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ISO |
ClinVar Annotator: match by term: Spasticity |
ClinVar |
PMID:34385670 |
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NCBI chr10:61,880,807...61,914,471
Ensembl chr10:61,880,825...61,914,471
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G |
Plp1 |
proteolipid protein 1 |
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ISO |
ClinVar Annotator: match by term: Spasticity |
ClinVar |
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NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
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G |
Pmp22 |
peripheral myelin protein 22 |
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ISO |
ClinVar Annotator: match by term: Spasticity |
ClinVar |
PMID:25741868 |
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NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
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G |
Rab9b |
RAB9B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Spasticity |
ClinVar |
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NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701
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G |
Reep1 |
receptor accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Spasticity |
ClinVar |
PMID:25025039 PMID:25741868 |
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NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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G |
Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Spasticity |
ClinVar |
PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 PMID:20718791 PMID:20932283 PMID:22960362 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29761117 PMID:29934652 More...
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NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Spasticity |
ClinVar |
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NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Washc5 |
WASH complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Spasticity |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
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NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
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G |
Acox1 |
acyl-CoA oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:25741868 |
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NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
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G |
Ampd1 |
adenosine monophosphate deaminase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10996775 |
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NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Camkmt |
calmodulin-lysine N-methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
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NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
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G |
Capn3 |
calpain 3 |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:15733273 PMID:16100770 PMID:16141003 PMID:16372320 PMID:16411092 PMID:16650086 PMID:17236769 PMID:17318636 PMID:17702496 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25135358 PMID:25741868 PMID:26404900 PMID:26467025 PMID:26484845 PMID:26501342 PMID:27142102 PMID:28492532 PMID:28914264 PMID:30028523 PMID:30919934 PMID:31263448 PMID:31517061 PMID:31788660 More...
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NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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G |
Cfl2 |
cofilin 2 |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:28492532 |
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NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
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G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:25741868 |
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NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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G |
Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:19309692 PMID:20576434 PMID:21280092 PMID:24033266 PMID:24314752 PMID:25535305 PMID:25741868 PMID:26467025 PMID:27447704 PMID:28492532 PMID:30755392 More...
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NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:28492532 |
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Csf2 |
colony stimulating factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8622042 |
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NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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G |
Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8622042 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Dmd |
dystrophin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Muscle weakness |
CTD ClinVar |
PMID:16770791 PMID:17253928 PMID:25007885 PMID:25741868 PMID:26930420 PMID:28492532 PMID:30074247 PMID:34106991 More...
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NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Dnajb6 |
DnaJ heat shock protein family (Hsp40) member B6 |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Progressive muscle weakness |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32656949 |
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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G |
Dysf |
dysferlin |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:25741868 |
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NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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G |
Fhl1 |
four and a half LIM domains 1 |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:25741868 |
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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 |
Fkrp |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Muscle weakness CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28112097 PMID:28479227 PMID:28492532 PMID:29571322 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31268217 PMID:34008892 PMID:34653404 More...
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NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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G |
Flnc |
filamin C |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
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NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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G |
Gyg1 |
glycogenin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20357282 |
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NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797
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G |
Ighmbp2 |
immunoglobulin mu DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Progressive muscle weakness |
ClinVar |
PMID:14506069 PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
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G |
Myot |
myotilin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Muscle weakness |
CTD ClinVar |
PMID:15111675 |
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NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841
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G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:19303950 PMID:20157015 PMID:22857269 PMID:25741868 PMID:26467025 PMID:27890673 PMID:28492532 More...
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NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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G |
Pmp22 |
peripheral myelin protein 22 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12427913 |
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NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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G |
Scn4a |
sodium voltage-gated channel alpha subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:25741868 |
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NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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G |
Slc12a3 |
solute carrier family 12 member 3 |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:8528245 PMID:9734597 PMID:10988270 PMID:12039972 PMID:17329572 PMID:17654016 PMID:18391953 PMID:21415153 PMID:22009145 PMID:23328711 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26921350 PMID:28492532 PMID:31672324 More...
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NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
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G |
Smchd1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:23143600 PMID:28492532 |
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NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29434186 PMID:33269387 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Syt2 |
synaptotagmin 2 |
|
ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
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NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859
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G |
Tbcd |
tubulin folding cofactor D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27666374 |
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NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
Diaphragm Weakness |
RGD |
PMID:21097524 |
RGD:5130943 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Ttn |
titin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17444505 |
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Vcp |
valosin-containing protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25884947 |
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Washc5 |
WASH complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Muscle weakness |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18467435 |
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NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Ampd1 |
adenosine monophosphate deaminase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10996775 |
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NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
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G |
Apaf1 |
apoptotic peptidase activating factor 1 |
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IEP |
mRNA:decreased expression:skeletal muscle tissue |
RGD |
PMID:17029665 |
RGD:2325745 |
NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
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G |
Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
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ISO |
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RGD |
PMID:23792145 |
RGD:10059412 |
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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G |
Cacna1s |
calcium voltage-gated channel subunit alpha1 S |
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ISO |
ClinVar Annotator: match by term: Muscular atrophy |
ClinVar |
PMID:25741868 PMID:31227654 |
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NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
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G |
Ccng1 |
cyclin G1 |
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IEP |
associated with microgravity; mRNA:increased expression:gastrocnemius (rat) |
RGD |
PMID:14638460 |
RGD:151361116 |
NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
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G |
Cfl1 |
cofilin 1 |
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IEP |
protein:decreased phosphorylation:gastrocnemius (rat) |
RGD |
PMID:24711688 |
RGD:11570530 |
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
treatment |
IMP |
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RGD |
PMID:18827022 |
RGD:7495773 |
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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G |
Cited2 |
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19032942 |
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NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897
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G |
Col1a2 |
collagen type I alpha 2 chain |
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IEP |
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RGD |
PMID:17916675 |
RGD:7257536 |
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Muscular atrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
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IDA |
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RGD |
PMID:21235761 |
RGD:5130936 |
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18467435 |
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Ctsl |
cathepsin L |
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IEP |
mRNA:increased expression:soleus (rat) |
RGD |
PMID:16928772 |
RGD:2315576 |
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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G |
Dag1 |
dystroglycan 1 |
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IEP |
protein:decreased expression:gastrocnemius |
RGD |
PMID:12107060 |
RGD:625642 |
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Dmd |
dystrophin |
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IEP ISO |
ClinVar Annotator: match by term: Muscular atrophy |
ClinVar RGD |
PMID:25741868 PMID:12107060 |
RGD:625642 |
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Endog |
endonuclease G |
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IEP |
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RGD |
PMID:15650125 |
RGD:9685359 |
NCBI chr 3:13,449,113...13,451,715
Ensembl chr 3:13,449,086...13,451,932
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G |
Fabp4 |
fatty acid binding protein 4 |
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IEP |
associated with microgravity; mRNA:increased expression:gastrocnemius (rat) |
RGD |
PMID:14638460 |
RGD:151361116 |
NCBI chr 2:91,580,879...91,585,567
Ensembl chr 2:91,580,885...91,585,578
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G |
Fbxo32 |
F-box protein 32 |
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IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21139329 PMID:11679633 |
RGD:633893 |
NCBI chr 7:89,731,428...89,764,997
Ensembl chr 7:89,730,232...89,765,436
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G |
Fst |
follistatin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:33034787 |
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NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571
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G |
Gh1 |
growth hormone 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8937196 |
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NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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G |
Ghr |
growth hormone receptor |
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IEP |
mRNA:increased expression:soleus associated with microgravity; mRNA:increased expression:gastrocnemius (rat) |
RGD |
PMID:12865352 PMID:14638460 |
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