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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:15322546 PMID:16155189 PMID:16199547 PMID:16453322 PMID:17377524 PMID:17409309 PMID:21068128 PMID:22693042 PMID:24690944 PMID:25356976 PMID:25741868 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26541515 PMID:26729329 PMID:27434533 PMID:28041643 PMID:28125082 PMID:28431631 PMID:28442542 PMID:28492532 PMID:28497568 PMID:29146704 PMID:29186038 PMID:29343940 PMID:31624253 PMID:34627237 More...
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NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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G |
Arl13b |
ADP-ribosylation factor like GTPase 13B |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:18674751 PMID:23150559 PMID:23153492 PMID:25741868 PMID:26092869 PMID:27153923 PMID:28492532 PMID:31846650 PMID:34447983 More...
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NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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G |
B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24886560 PMID:25741868 PMID:25741913 PMID:26092869 PMID:28492532 PMID:32622957 PMID:34906502 More...
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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G |
B9d2 |
B9 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:33234550 More...
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:24997988 PMID:26092869 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22425360 PMID:22995991 PMID:23012439 PMID:23351400 PMID:23692786 PMID:24033266 PMID:24360807 PMID:24706459 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26062849 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:26862157 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27854218 PMID:27894351 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28518168 PMID:29039169 PMID:29146704 PMID:29165578 PMID:29620724 PMID:30055837 PMID:30091983 PMID:30267408 PMID:31618753 PMID:31680349 PMID:31738409 PMID:31964843 PMID:32165824 PMID:32461654 PMID:32488064 PMID:34182252 PMID:34194672 PMID:34906502 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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G |
Cep104 |
centrosomal protein 104 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:26477546 PMID:28492532 PMID:35372954 |
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NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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G |
Cep290 |
centrosomal protein 290 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24474277 PMID:25097241 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26529047 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27422788 PMID:28041643 PMID:28157192 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30902645 PMID:31091803 PMID:31411728 PMID:31630094 PMID:31734136 PMID:31877679 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34906470 PMID:36909829 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:10488899 PMID:20301500 PMID:21679365 PMID:22236771 PMID:22425360 PMID:23012439 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25741868 PMID:25846457 PMID:25877302 PMID:26092869 PMID:28087721 PMID:28125082 PMID:28431631 PMID:28492532 PMID:29146704 PMID:29605658 PMID:34091942 More...
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
DNA:missense mutations, nonsense mutation:exon:multiple ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar RGD |
PMID:15786477 PMID:19668216 PMID:23034536 PMID:23386033 PMID:25741868 PMID:26092869 PMID:26748598 PMID:27401686 PMID:28125082 PMID:28492532 PMID:28559085 PMID:29146704 PMID:29186038 PMID:29230161 PMID:29987673 PMID:30202406 PMID:31456290 PMID:33749171 PMID:34188062 PMID:23386033 More...
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RGD:12911208 |
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Kiaa0586 |
KIAA0586 homolog |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:28497568 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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G |
Kif14 |
kinesin family member 14 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:16199547 PMID:23308235 PMID:25741868 PMID:28492532 PMID:29343805 PMID:30388224 More...
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NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
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G |
Lrrcc1 |
leucine rich repeat and coiled-coil centrosomal protein 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
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NCBI chr 2:87,025,671...87,060,313
Ensembl chr 2:87,025,598...87,060,294
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G |
Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21228398 PMID:21258341 PMID:22353939 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25741868 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:33193692 PMID:33584783 PMID:34008892 PMID:34359301 PMID:34582790 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G |
Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:16199547 PMID:23559409 PMID:25741868 PMID:28002029 PMID:28492532 PMID:34090716 More...
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NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:18371931 PMID:19303681 PMID:23559409 PMID:25741868 PMID:26184788 PMID:28492532 PMID:28921755 PMID:31131822 PMID:32040628 PMID:32173348 PMID:33323469 PMID:34031707 More...
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NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:11179005 PMID:12595504 PMID:16199547 PMID:16311594 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:23033313 PMID:24476948 PMID:24884629 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28492532 More...
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30193310 PMID:34196655 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 |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 PMID:31964843 PMID:31980526 PMID:35858853 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Tctn1 |
tectonic family member 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:16199547 PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 More...
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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G |
Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:21462283 PMID:21565611 PMID:25118024 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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G |
Tctn3 |
tectonic family member 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:2692869 PMID:16199547 PMID:22883145 PMID:25118024 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
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G |
Tmem138 |
transmembrane protein 138 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22282472 PMID:27081510 PMID:28102635 PMID:28492532 More...
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NCBI chr 1:207,219,113...207,226,159
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G |
Tmem216 |
transmembrane protein 216 |
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ISO |
DNA:missense mutation:exon:c.218G>T(p.R73L)(human) ClinVar Annotator: match by term: Joubert syndrome |
ClinVar RGD |
PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26673778 PMID:28492532 PMID:28497568 PMID:20512146 More...
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RGD:11067331 |
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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G |
Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:33791682 |
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NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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G |
Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23169490 PMID:23349226 PMID:25741868 PMID:25869670 PMID:26123494 PMID:26489029 PMID:27449316 PMID:27711071 PMID:28492532 PMID:32055034 PMID:32386258 PMID:32552793 PMID:34354814 PMID:35456422 More...
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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G |
Tmem237 |
transmembrane protein 237 |
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ISO |
DNA:nonsense,transition mutations:cds,splice junction: ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar RGD |
PMID:16199547 PMID:17603801 PMID:22152675 PMID:22981120 PMID:25741868 PMID:26673778 PMID:28492532 PMID:31019026 PMID:31710777 PMID:34839509 PMID:22152675 More...
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RGD:11561921 |
NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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G |
Tmem67 |
transmembrane protein 67 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26546361 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29891882 PMID:29947050 PMID:32000717 PMID:34675960 PMID:34964473 PMID:36703223 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
Zic1 |
Zic family member 1 |
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ISS |
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MouseDO |
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NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
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G |
Abca2 |
ATP binding cassette subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
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G |
Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 PMID:16453322 PMID:16541367 PMID:17377524 PMID:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:20301500 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:25616960 PMID:25640679 PMID:25741868 PMID:25741913 PMID:25741916 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26541515 PMID:26729329 PMID:26759440 PMID:27434533 PMID:28041643 PMID:28097321 PMID:28118669 PMID:28125082 PMID:28431631 PMID:28442542 PMID:28492532 PMID:28497568 PMID:29186038 PMID:29343940 PMID:30055837 PMID:30755392 PMID:31054281 PMID:31069529 PMID:31319225 PMID:31624253 PMID:32165824 PMID:32335874 PMID:32865313 PMID:33879512 PMID:33921607 PMID:34191236 PMID:34205586 PMID:34627237 PMID:34906502 PMID:36819107 More...
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NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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G |
Ajm1 |
apical junction component 1 homolog |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321
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G |
Akap1 |
A-kinase anchoring protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,621,021...73,654,123
Ensembl chr10:73,621,883...73,653,896
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G |
Aldh3a2 |
aldehyde dehydrogenase 3 family, member A2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
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G |
Alkbh5 |
alkB homolog 5, RNA demethylase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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G |
Anapc2 |
anaphase promoting complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
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G |
Appbp2 |
amyloid beta precursor protein binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,057,774...70,099,877
Ensembl chr10:70,057,774...70,099,835
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G |
Arl13b |
ADP-ribosylation factor like GTPase 13B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:18674751 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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G |
Armc9 |
armadillo repeat containing 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 |
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NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
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G |
Arrdc1 |
arrestin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197
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G |
Atp6v0a2 |
ATPase H+ transporting V0 subunit a2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069
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G |
Atpaf2 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
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G |
B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16007087 PMID:16199547 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26477546 PMID:27123465 PMID:28492532 PMID:32622957 PMID:34906502 More...
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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G |
B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:33234550 More...
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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G |
Bcas3 |
BCAS3, microtubule associated cell migration factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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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 |
Brip1 |
BRCA1 interacting helicase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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G |
Bst1 |
bone marrow stromal cell antigen 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:67,253,706...67,270,203
Ensembl chr14:67,252,998...67,270,180
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G |
C10h17orf67 |
similar to human chromosome 17 open reading frame 67 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,895,343...73,916,133
Ensembl chr10:73,895,343...73,916,133
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G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:24997988 PMID:25741868 PMID:26092869 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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G |
C7h12orf50 |
similar to human chromosome 12 open reading frame 50 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 |
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NCBI chr 7:35,406,147...35,443,324
Ensembl chr 7:35,411,555...35,443,320
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G |
C8g |
complement C8 gamma chain |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495
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G |
Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
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G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
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G |
Car4 |
carbonic anhydrase 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:69,827,945...69,836,501
Ensembl chr10:69,827,945...69,836,501
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G |
Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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G |
Cby1 |
chibby 1, beta catenin antagonist |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:33131181 |
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NCBI chr 7:111,216,835...111,223,305
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19763152 PMID:19777577 PMID:20307669 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22406018 PMID:22425360 PMID:22995991 PMID:23012439 PMID:23351400 PMID:23692786 PMID:24033266 PMID:24360807 PMID:24706459 PMID:25525159 PMID:25741868 PMID:25741914 PMID:26003401 PMID:26062849 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26633542 PMID:26673778 PMID:26729329 PMID:26862157 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27894351 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28518168 PMID:29039169 PMID:29146704 PMID:29165578 PMID:29620724 PMID:29987673 PMID:30055837 PMID:30091983 PMID:30202406 PMID:30267408 PMID:31130284 PMID:31577543 PMID:31618753 PMID:31680349 PMID:31738409 PMID:31964843 PMID:32165824 PMID:32461654 PMID:32488064 PMID:33486889 PMID:33502066 PMID:34182252 PMID:34194672 PMID:34645488 PMID:34821546 PMID:34906502 PMID:35858853 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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G |
Ccdc183 |
coiled-coil domain containing 183 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
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G |
Cd38 |
CD38 molecule |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
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:18414213 PMID:19466712 PMID:19763152 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20130272 PMID:20301475 PMID:20307669 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21786365 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22406018 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23034536 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23661368 PMID:23847139 PMID:23954617 PMID:24265693 PMID:24474277 PMID:24850569 PMID:25097241 PMID:25324289 PMID:25326637 PMID:25356976 PMID:25377065 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26529047 PMID:26667666 PMID:26673778 PMID:27032803 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27434533 PMID:27491411 PMID:27821535 PMID:27848944 PMID:27894351 PMID:28041643 PMID:28127548 PMID:28157192 PMID:28224992 PMID:28418496 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28510626 PMID:28559085 PMID:28660274 PMID:28771248 PMID:28829391 PMID:28844315 PMID:28912962 PMID:28966547 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29186038 PMID:29217415 PMID:29261186 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29620724 PMID:29641573 PMID:29754767 PMID:29771326 PMID:29844330 PMID:29970488 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31624253 PMID:31630094 PMID:31680349 PMID:31734136 PMID:31816670 PMID:31840411 PMID:31877679 PMID:31884610 PMID:31964843 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32386258 PMID:32581362 PMID:32600475 PMID:32619255 PMID:32856788 PMID:32864857 PMID:32865313 PMID:33105651 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33576794 PMID:33726816 PMID:33886416 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34031707 PMID:34096792 PMID:34196655 PMID:34321860 PMID:34795310 PMID:34821546 PMID:34906470 PMID:35314707 PMID:35836572 PMID:36460718 PMID:36493848 PMID:36909829 PMID:37008293 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Cep41 |
centrosomal protein 41 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
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G |
Chct1 |
CHD1 helical C-terminal domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,039,510...70,051,556
Ensembl chr10:70,039,680...70,051,542
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G |
Cimip2a |
ciliary microtubule inner protein 2A |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961
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G |
Clic3 |
chloride intracellular channel 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
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G |
Cltc |
clathrin heavy chain |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737
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G |
Cluap1 |
clusterin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 PMID:28679688 |
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NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
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G |
Coil |
coilin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,789,077...73,810,378
Ensembl chr10:73,789,488...73,810,393
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G |
Cops3 |
COP9 signalosome subunit 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:10488899 PMID:16199547 PMID:20301500 PMID:22425360 PMID:24033266 PMID:24178751 PMID:25741868 PMID:25877302 PMID:26092869 PMID:28492532 More...
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Cpsf7 |
cleavage and polyadenylation specific factor 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:207,167,690...207,191,938
Ensembl chr 1:207,167,859...207,191,905
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G |
Cuedc1 |
CUE domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,892,637...72,986,546
Ensembl chr10:72,892,637...72,986,542
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G |
Cyb561a3 |
cytochrome b561 family, member A3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr 1:207,216,185...207,237,575
Ensembl chr 1:207,226,230...207,237,571
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G |
Cysrt1 |
cysteine rich tail 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721
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G |
Dgke |
diacylglycerol kinase epsilon |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100
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G |
Dhx40 |
DEAH-box helicase 40 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,584,546...71,621,479
Ensembl chr10:71,583,716...71,621,445
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G |
Dipk1b |
divergent protein kinase domain 1B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
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G |
Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551
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G |
Dph7 |
diphthamide biosynthesis 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,770,368...7,778,994
Ensembl chr 3:7,770,379...7,778,982
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G |
Dpp7 |
dipeptidylpeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
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G |
Drc3 |
dynein regulatory complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369
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G |
Drg2 |
developmentally regulated GTP binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969
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G |
Dynll2 |
dynein light chain LC8-type 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,767,035...72,785,824
Ensembl chr10:72,767,035...72,785,805
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G |
Edf1 |
endothelial differentiation-related factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
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G |
Egfl6 |
EGF-like-domain, multiple 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,884,087...27,942,044
Ensembl chr X:27,884,125...27,942,044
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G |
Egfl7 |
EGF-like-domain, multiple 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
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G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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G |
Eif2b1 |
eukaryotic translation initiation factor 2B subunit alpha |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
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G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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G |
Entpd8 |
ectonucleoside triphosphate diphosphohydrolase 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
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G |
Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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G |
Epn2 |
epsin 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
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G |
Epx |
eosinophil peroxidase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952
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G |
Exoc8 |
exocyst complex component 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:22700954 |
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NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491
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G |
Fam149b1 |
family with sequence similarity 149, member B1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:30905400 |
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NCBI chr15:3,929,190...3,967,140
Ensembl chr15:3,929,190...3,966,997
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G |
Fam83g |
family with sequence similarity 83, member G |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
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G |
Fbxl5 |
F-box and leucine-rich repeat protein 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:67,305,109...67,347,383
Ensembl chr14:67,267,801...67,347,383
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G |
Fbxw10 |
F-box and WD repeat domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907
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G |
Fbxw5 |
F-box and WD repeat domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
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G |
Fgfbp1 |
fibroblast growth factor binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:67,103,686...67,107,492
Ensembl chr14:67,104,545...67,107,496
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G |
Flcn |
folliculin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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G |
Flii |
FLII, actin remodeling protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G |
Fut7 |
fucosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
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G |
Gdpd1 |
glycerophosphodiester phosphodiesterase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,840,497...71,883,936
Ensembl chr10:71,840,497...71,883,850
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G |
Gid4 |
GID complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,221,556...45,247,627
Ensembl chr10:45,245,754...45,247,621 Ensembl chr10:45,245,754...45,247,621
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G |
Glt6d1 |
glycosyltransferase 6 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335
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G |
Gpsm1 |
G-protein signaling modulator 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
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G |
Grap |
GRB2-related adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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G |
Gtf2h3 |
general transcription factor IIH subunit 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,009,010...32,025,484
Ensembl chr12:32,009,014...32,025,497
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G |
Heatr6 |
HEAT repeat containing 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:68,635,048...68,665,445
Ensembl chr10:68,635,065...68,664,105
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G |
Hsf5 |
heat shock transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,417,216...72,460,394
Ensembl chr10:72,417,298...72,460,406
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:24140113 PMID:25741868 PMID:26092869 |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10577920 PMID:15786477 PMID:16025100 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19597493 PMID:19668215 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:23847139 PMID:24257694 PMID:25132448 PMID:25133751 PMID:25516202 PMID:25741868 PMID:25741895 PMID:25818971 PMID:25920555 PMID:25963545 PMID:25999675 PMID:26075876 PMID:26092869 PMID:26748598 PMID:26820064 PMID:27081510 PMID:27353947 PMID:27401686 PMID:28125082 PMID:28454995 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28771248 PMID:29052317 PMID:29146704 PMID:29186038 PMID:29230161 PMID:29555955 PMID:29915382 PMID:29987673 PMID:30202406 PMID:31456290 PMID:31506345 PMID:31589614 PMID:32304219 PMID:32483926 PMID:33270637 PMID:33749171 PMID:34188062 PMID:36460718 More...
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Irx3 |
iroquois homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:15,211,882...15,215,317
Ensembl chr19:15,211,878...15,215,317
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G |
Irx5 |
iroquois homeobox 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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G |
Irx6 |
iroquois homeobox 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:14,330,440...14,336,403
Ensembl chr19:14,330,440...14,336,403
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G |
Katnip |
katanin interacting protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:26714646 |
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NCBI chr 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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G |
Kiaa0586 |
KIAA0586 homolog |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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G |
Kif7 |
kinesin family member 7 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:21633164 PMID:25741868 PMID:28492532 |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Kitlg |
KIT ligand |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 |
|
NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
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G |
Lcn1 |
lipocalin 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
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G |
Lcn10 |
lipocalin 10 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
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G |
Lcn12 |
lipocalin 12 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495
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G |
Lcn6 |
lipocalin 6 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
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G |
Lcn8 |
lipocalin 8 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
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G |
Lcn9 |
lipocalin 9 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200
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G |
Lhx3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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Llgl1 |
LLGL scribble cell polarity complex component 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094
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Lpo |
lactoperoxidase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,606,950...72,626,220
Ensembl chr10:72,606,944...72,626,535
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Lrrc26 |
leucine rich repeat containing 26 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687
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Lrrc34 |
leucine rich repeat containing 34 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459
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Mamdc4 |
MAM domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
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Man1b1 |
mannosidase, alpha, class 1B, member 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
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Mapk7 |
mitogen-activated protein kinase 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
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Med9 |
mediator complex subunit 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464
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Mfap4 |
microfibril associated protein 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
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Micall2 |
MICAL-like 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
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NCBI chr12:14,899,188...14,927,949
Ensembl chr12:14,899,157...14,927,946
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Mief2 |
mitochondrial elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
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Mir126a |
microRNA 126a |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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Mir21 |
microRNA 21 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:19763152 PMID:20301500 PMID:20307669 PMID:21068128 PMID:21228398 PMID:21258341 PMID:22353939 PMID:22406018 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25363768 PMID:25741868 PMID:25966130 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33193692 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34582790 PMID:35360848 PMID:35587316 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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Mmp2 |
matrix metallopeptidase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mpo |
myeloperoxidase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Mprip |
myosin phosphatase Rho interacting protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,453,949...44,573,843
Ensembl chr10:44,453,929...44,569,118
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Mrpl41 |
mitochondrial ribosomal protein L41 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818
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Mrps2 |
mitochondrial ribosomal protein S2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313
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Mrps23 |
mitochondrial ribosomal protein S23 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,999,033...73,006,791
Ensembl chr10:72,998,497...73,006,264
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G |
Msi2 |
musashi RNA-binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,143,760...73,510,566
Ensembl chr10:73,147,380...73,510,157
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G |
Mtmr4 |
myotubularin related protein 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342
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Myo15a |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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Nacc2 |
NACC family member 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
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Ndor1 |
NADPH dependent diflavin oxidoreductase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860
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Nelfb |
negative elongation factor complex member B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403
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Nog |
noggin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Noxa1 |
NADPH oxidase activator 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967
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Npdc1 |
neural proliferation, differentiation and control, 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
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Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 |
ClinVar |
PMID:24746959 PMID:25741868 PMID:28492532 |
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NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nrarp |
Notch-regulated ankyrin repeat protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133
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Nsmf |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
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Nt5m |
5',3'-nucleotidase, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150
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G |
Obp2a |
odorant binding protein 2A |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:8,505,990...8,509,269
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Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:11179005 PMID:11349230 PMID:12595504 PMID:16199547 PMID:16311594 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 PMID:24476948 PMID:24884629 PMID:25674159 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28289185 PMID:28371265 PMID:28492532 PMID:28831199 PMID:29843741 PMID:30401917 PMID:33825116 PMID:34440443 PMID:35112477 PMID:35728977 More...
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Olr1523 |
olfactory receptor 1523 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,708,272...72,709,213
Ensembl chr10:72,707,063...72,715,311
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G |
Or4d2b |
olfactory receptor family 4 subfamily D member 2B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,693,014...72,693,949
Ensembl chr10:72,689,839...72,696,182
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Paep |
progestagen associated endometrial protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430
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Paxx |
PAXX, non-homologous end joining factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521
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Pdp1 |
pyruvate dehydrogenase phosphatase catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:20232449 PMID:23559409 PMID:28492532 |
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NCBI chr 5:25,446,843...25,455,107
Ensembl chr 5:25,446,272...25,455,217
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G |
Pdpr |
pyruvate dehydrogenase phosphatase regulatory subunit |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25558065 PMID:27894351 |
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NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688
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G |
Pemt |
phosphatidylethanolamine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
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G |
Phpt1 |
phosphohistidine phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,392,926...8,394,325
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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:26167768 PMID:28492532 |
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NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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G |
Pld6 |
phospholipase D family, member 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,578,536...44,581,187
Ensembl chr10:44,577,675...44,581,077
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G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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G |
Pnpla7 |
patatin-like phospholipase domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497
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G |
Ppm1d |
protein phosphatase, Mg2+/Mn2+ dependent, 1D |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
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G |
Ppm1e |
protein phosphatase, Mg2+/Mn2+ dependent, 1E |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,051,643...72,187,439
Ensembl chr10:72,055,208...72,187,282
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G |
Prom1 |
prominin 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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Prpsap2 |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849
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Prr11 |
proline rich 11 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,898,858...71,943,325
Ensembl chr10:71,901,202...71,921,012
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Ptgds |
prostaglandin D2 synthase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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Ptrh2 |
peptidyl-tRNA hydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,505,113...71,515,297
Ensembl chr10:71,504,956...71,515,398
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Qsox2 |
quiescin sulfhydryl oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
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Rab9a |
RAB9A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,955,552...28,009,870
Ensembl chr X:27,952,204...28,001,622
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Rabl6 |
RAB, member RAS oncogene family-like 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
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Rad51c |
RAD51 paralog C |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
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Rai1 |
retinoic acid induced 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
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Rasd1 |
ras related dexamethasone induced 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186
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Rcor1 |
REST corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:26489029 |
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NCBI chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153
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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16682973 PMID:16909394 PMID:17576681 PMID:19764032 PMID:20683928 PMID:21786365 PMID:23954617 PMID:25741868 PMID:27821535 PMID:28492532 PMID:29588463 PMID:30193310 PMID:34196655 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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Rnf112 |
ring finger protein 112 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
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Rnf208 |
ring finger protein 208 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844
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Rnf224 |
ring finger protein 224 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,050,088...8,052,416
Ensembl chr 3:8,051,475...8,051,945
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Rnf43 |
ring finger protein 43 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
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Rnft1 |
ring finger protein, transmembrane 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,310,052...71,322,507
Ensembl chr10:71,310,104...71,323,778
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Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:19763152 PMID:20301500 PMID:20307669 PMID:21068128 PMID:21866095 PMID:22331178 PMID:22406018 PMID:22693042 PMID:23188109 PMID:23351400 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26092869 PMID:27434533 PMID:27717089 PMID:28378410 PMID:28492532 PMID:28771248 PMID:29343940 PMID:29620724 PMID:29991045 PMID:31328266 PMID:31390572 PMID:31964843 PMID:31980526 PMID:33323469 PMID:34308837 PMID:35233738 PMID:35858853 PMID:36061204 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Rps6kb1 |
ribosomal protein S6 kinase B1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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Sapcd2 |
suppressor APC domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
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Scpep1 |
serine carboxypeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,703,275...73,732,892
Ensembl chr10:73,703,278...73,732,850
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Sdhaf2 |
succinate dehydrogenase complex assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
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Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
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Septin4 |
septin 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768
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Shmt1 |
serine hydroxymethyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820
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Ska2 |
spindle and kinetochore associated complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,921,474...71,939,461
Ensembl chr10:71,921,582...71,939,458
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Slc34a3 |
solute carrier family 34 member 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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Slc47a1 |
solute carrier family 47 member 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
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Slc5a10 |
solute carrier family 5 member 10 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811
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Smcr8 |
SMCR8-C9orf72 complex subunit |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876
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Smg8 |
SMG8 nonsense mediated mRNA decay factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,886,742...71,895,776
Ensembl chr10:71,886,744...71,895,760
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Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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Srebf1 |
sterol regulatory element binding transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Srsf1 |
serine and arginine rich splicing factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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Ssna1 |
SS nuclear autoantigen 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356
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Stpg3 |
sperm-tail PG-rich repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601
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Supt4h1 |
SPT4 homolog, DSIF elongation factor subunit |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,539,323...72,545,582
Ensembl chr10:72,539,382...72,545,831
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Sycp3l1 |
synaptonemal complex protein 3 like 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr 1:186,108,544...186,111,598
Ensembl chr 1:186,108,920...186,109,630
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Tapt1 |
transmembrane anterior posterior transformation 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:66,873,467...66,919,737
Ensembl chr14:66,873,459...66,919,741
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Tbx2 |
T-box transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
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G |
Tbx4 |
T-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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Tceanc |
transcription elongation factor A N-terminal and central domain containing |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,952,539...27,961,038
Ensembl chr X:27,952,457...27,960,940
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Tctn1 |
tectonic family member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21725307 PMID:22693042 PMID:25741868 PMID:25920555 PMID:26477546 PMID:26489806 PMID:27894351 PMID:28492532 PMID:31302911 More...
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 PMID:22331178 PMID:23169490 PMID:24033266 PMID:25118024 PMID:25640679 PMID:25741868 PMID:25741913 PMID:26092869 PMID:26729329 PMID:28492532 PMID:28771248 PMID:31428121 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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Tex14 |
testis expressed 14, intercellular bridge forming factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr7 |
toll-like receptor 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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Tlr8 |
toll-like receptor 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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Tmem138 |
transmembrane protein 138 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr 1:207,219,113...207,226,159
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Tmem141 |
transmembrane protein 141 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
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Tmem17 |
transmembrane protein 17 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233
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Tmem203 |
transmembrane protein 203 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867
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Tmem210 |
transmembrane protein 210 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,100,595...8,101,645
Ensembl chr 3:8,100,590...8,101,643
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G |
Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 PMID:20036350 PMID:20301500 PMID:20307669 PMID:20512146 PMID:22282472 PMID:22406018 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 More...
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NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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G |
Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:33791682 |
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NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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Tmem237 |
transmembrane protein 237 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:17603801 PMID:22152675 PMID:22981120 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31019026 PMID:31710777 More...
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NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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G |
Tmem250 |
transmembrane protein 250 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 PMID:12368986 PMID:16199547 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:19763152 PMID:20232449 PMID:20307669 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22406018 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24033266 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26075130 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26275793 PMID:26467025 PMID:26477546 PMID:26546361 PMID:26729329 PMID:27434533 PMID:27457812 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29096039 PMID:29127258 PMID:29146704 PMID:29261186 PMID:29568536 PMID:29891882 PMID:29947050 PMID:29974258 PMID:30455918 PMID:30476936 PMID:31019026 PMID:31411728 PMID:31589614 PMID:31738409 PMID:32000717 PMID:32058062 PMID:32404165 PMID:33532864 PMID:34006472 PMID:34032358 PMID:34645491 PMID:34675960 PMID:34964473 PMID:35229910 PMID:36221156 PMID:36617405 PMID:36703223 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tmsb4x |
thymosin beta 4, X-linked |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,144,666...27,146,667
Ensembl chr X:27,128,610...27,146,667
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Tmtc3 |
transmembrane O-mannosyltransferase targeting cadherins 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 |
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NCBI chr 7:35,264,886...35,310,010
Ensembl chr 7:35,264,892...35,310,385
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Tnfrsf13b |
TNF receptor superfamily member 13B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Togaram1 |
TOG array regulator of axonemal microtubules 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:32453716 PMID:32747439 |
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NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
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Tom1l2 |
target of myb1 like 2 membrane trafficking protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
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Top3a |
DNA topoisomerase III alpha |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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Tor4a |
torsin family 4, member A |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042
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G |
Tprn |
taperin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
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G |
Traf2 |
Tnf receptor-associated factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
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G |
Trappc2 |
trafficking protein particle complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:25674159 PMID:27081566 PMID:28492532 More...
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NCBI chr X:28,004,051...28,015,336
Ensembl chr X:27,994,054...28,015,346
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G |
Trim25 |
tripartite motif-containing 25 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,812,818...73,831,271
Ensembl chr10:73,812,818...73,831,257
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G |
Trim37 |
tripartite motif-containing 37 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,943,384...72,075,563
Ensembl chr10:71,943,375...72,075,558
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G |
Tspoap1 |
TSPO associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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G |
Tubb4b |
tubulin, beta 4B class IVb |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,037,838...8,040,294
Ensembl chr 3:8,037,799...8,040,296
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Tubd1 |
tubulin, delta 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,367,936...71,391,387
Ensembl chr10:71,368,133...71,391,266
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G |
Tvp23b |
trans-golgi network vesicle protein 23 homolog B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203
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G |
Uap1l1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
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G |
Ubac1 |
UBA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
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Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16963483 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29767709 PMID:30245029 PMID:31429209 More...
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NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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G |
Usp32 |
ubiquitin specific peptidase 32 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:69,855,895...70,029,075
Ensembl chr10:69,855,885...70,029,137
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G |
Vezf1 |
vascular endothelial zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,859,669...72,876,111
Ensembl chr10:72,859,877...72,876,111
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G |
Vmp1 |
vacuole membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,405,058...71,505,045
Ensembl chr10:71,405,452...71,505,007
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G |
Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:27158779 PMID:28492532 |
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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G |
Ypel2 |
yippee-like 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,746,308...71,803,843
Ensembl chr10:71,746,311...71,803,911
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Zmynd19 |
zinc finger, MYND-type containing 19 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,758,133...7,769,722
Ensembl chr 3:7,758,133...7,767,514
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Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 10 CTD Direct Evidence: marker/mechanism DNA:duplication:exon:2122-2125dup (human) DNA:deletions:exon:c.2841_2847del, c.2767del (human) |
OMIM ClinVar CTD RGD |
PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 PMID:24884629 PMID:25741868 PMID:26092869 PMID:26467025 PMID:27081566 PMID:28492532 PMID:30401917 PMID:35112477 PMID:35728977 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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Kif7 |
kinesin family member 7 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 12 |
ClinVar |
PMID:21633164 PMID:22246503 |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Tctn1 |
tectonic family member 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 13 |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:21725307 PMID:22693042 PMID:25558065 PMID:25741868 PMID:25741913 PMID:25741916 PMID:25920555 PMID:26092869 PMID:26123494 PMID:26477546 PMID:27894351 PMID:28492532 PMID:31302911 PMID:32949114 PMID:34645488 More...
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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G |
Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 |
ClinVar |
PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 |
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NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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C2cd6 |
C2 calcium dependent domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 |
ClinVar |
PMID:22152675 PMID:28492532 |
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NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806
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G |
Mpp4 |
MAGUK p55 scaffold protein 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 |
ClinVar |
PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 |
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NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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Stradb |
STE20 related adaptor beta |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
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G |
Tmem237 |
transmembrane protein 237 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 | ClinVar Annotator: match by term: TMEM237-related condition |
OMIM ClinVar |
PMID:9536098 PMID:11586298 PMID:14760273 PMID:16199547 PMID:17576681 PMID:17603801 PMID:22152675 PMID:22981120 PMID:23351400 PMID:24033266 PMID:24315819 PMID:25558065 PMID:25741868 PMID:25741915 PMID:25741916 PMID:26092869 PMID:26673778 PMID:28492532 PMID:28600779 PMID:31019026 PMID:31710777 PMID:34839509 More...
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NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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G |
Cep41 |
centrosomal protein 41 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 15 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 PMID:21438139 PMID:22246503 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30664616 More...
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NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
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G |
Tmem138 |
transmembrane protein 138 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 16 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22282472 PMID:25741868 PMID:26092869 PMID:26489029 PMID:27081510 PMID:27434533 PMID:28102635 PMID:28289185 PMID:28492532 PMID:32404165 More...
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NCBI chr 1:207,219,113...207,226,159
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G |
Coq8a |
coenzyme Q8A |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 17 |
ClinVar |
PMID:18319074 PMID:24033266 PMID:25741868 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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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
ISO ISS |
ClinVar Annotator: match by term: CPLANE1-related condition | ClinVar Annotator: match by term: Joubert syndrome 17 OMIM:614615 DNA:missense mutation: :p.S235P (mouse) |
OMIM ClinVar MouseDO RGD |
PMID:9536098 PMID:10488899 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 PMID:22425360 PMID:22693042 PMID:23523602 PMID:24091540 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25558065 PMID:25741868 PMID:25741905 PMID:25741914 PMID:25877302 PMID:25920555 PMID:26092869 PMID:26096313 PMID:26477546 PMID:26694549 PMID:27081551 PMID:27158779 PMID:27166760 PMID:27434533 PMID:28087721 PMID:28125082 PMID:28289185 PMID:28431631 PMID:28454995 PMID:28492532 PMID:28771248 PMID:28976722 PMID:29146704 PMID:29321670 PMID:29605658 PMID:30408610 PMID:30919572 PMID:31158925 PMID:31216405 PMID:31980526 PMID:32037395 PMID:32233090 PMID:33176815 PMID:33774617 PMID:34008892 PMID:34091942 PMID:25877302 More...
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RGD:11537349 |
NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Crygd |
crystallin, gamma D |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 17 |
ClinVar |
PMID:19390652 PMID:22995991 PMID:25741868 PMID:28492532 |
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NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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G |
Scn4a |
sodium voltage-gated channel alpha subunit 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 17 |
ClinVar |
PMID:7695243 PMID:9266738 PMID:18046642 PMID:20981092 PMID:25741868 PMID:28492532 More...
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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 |
Tctn3 |
tectonic family member 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 18 |
OMIM ClinVar |
PMID:2692869 PMID:16199547 PMID:22883145 PMID:25118024 PMID:25741868 PMID:26092869 PMID:27377014 PMID:28492532 PMID:28771248 More...
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NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
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G |
Tmem216 |
transmembrane protein 216 |
|
ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2 CTD Direct Evidence: marker/mechanism DNA:misense mutation:exon:c.35G>T(p.R12L)(human) |
OMIM ClinVar CTD RGD |
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:20036350 More...
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RGD:11561919 |
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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G |
Adat1 |
adenosine deaminase, tRNA-specific 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:23349226 PMID:28492532 |
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NCBI chr19:39,918,083...39,956,886
Ensembl chr19:39,918,227...39,956,883
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G |
Chst5 |
carbohydrate sulfotransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:27449316 PMID:28492532 |
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NCBI chr19:39,860,729...39,881,019
Ensembl chr19:39,860,501...39,881,064
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G |
Gabarapl2 |
GABA type A receptor associated protein like 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:23349226 PMID:28492532 |
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NCBI chr19:39,910,572...39,921,408
Ensembl chr19:39,910,534...39,924,628 Ensembl chr 8:39,910,534...39,924,628
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G |
Kars1 |
lysyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:23349226 PMID:28492532 |
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NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
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G |
Tmem170a |
transmembrane protein 170A |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:27449316 PMID:28492532 |
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NCBI chr19:39,833,947...39,846,807
Ensembl chr19:39,833,980...39,846,783
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G |
Tmem231 |
transmembrane protein 231 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23349226 PMID:25558065 PMID:25640679 PMID:25741868 PMID:25741905 PMID:25741914 PMID:25869670 PMID:26477546 PMID:26489029 PMID:26982032 PMID:27449316 PMID:27894351 PMID:28289185 PMID:28492532 PMID:31054281 PMID:32055034 PMID:32386258 PMID:34354814 PMID:35456422 More...
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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G |
Arfgef1 |
ADP ribosylation factor guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24360803 PMID:24360807 PMID:24360808 PMID:25741868 PMID:26092869 PMID:28492532 PMID:32386258 More...
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NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326
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G |
Cops5 |
COP9 signalosome subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,192,233...9,210,498
Ensembl chr 5:9,192,100...9,210,731
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G |
Cpa6 |
carboxypeptidase A6 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:24360807 PMID:24360808 PMID:28492532 |
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NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:8,526,741...8,888,485
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G |
Cspp1 |
centrosome and spindle pole associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301500 PMID:24033266 PMID:24360803 PMID:24360807 PMID:24360808 PMID:25558065 PMID:25640679 PMID:25741868 PMID:26092869 PMID:27434533 PMID:27894351 PMID:28125082 PMID:28492532 PMID:29146704 PMID:29706646 PMID:32386258 PMID:32483926 More...
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NCBI chr 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
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G |
Mcmdc2 |
minichromosome maintenance domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,291,967...9,337,526
Ensembl chr 5:9,298,101...9,338,300
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G |
Ppp1r42 |
protein phosphatase 1, regulatory subunit 42 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,227,109...9,274,461
Ensembl chr 5:9,227,204...9,274,453
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G |
Snord87 |
small nucleolar RNA, C/D box 87 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,297,489...9,297,573
Ensembl chr 5:9,297,489...9,297,573
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G |
Tcf24 |
transcription factor 24 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,274,659...9,282,876
Ensembl chr 5:9,227,131...9,279,636
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G |
Alpg |
alkaline phosphatase, germ cell |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836
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G |
Alpi |
alkaline phosphatase, intestinal |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877
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G |
Alpp |
alkaline phosphatase, placental |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606
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G |
Armc9 |
armadillo repeat containing 9 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
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G |
Atg16l1 |
autophagy related 16-like 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
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G |
B3gnt7 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,956,220...86,960,171
Ensembl chr 9:86,956,220...86,960,170
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G |
C9h2orf72 |
similar to human chromosome 2 open reading frame 72 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,691,767...86,699,920
Ensembl chr 9:86,691,867...86,698,185
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G |
Cab39 |
calcium binding protein 39 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,463,095...86,524,545
Ensembl chr 9:86,463,095...86,524,544
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G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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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 |
Chrng |
cholinergic receptor nicotinic gamma subunit |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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G |
Cops7b |
COP9 signalosome subunit 7B |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,238,132...87,263,967
Ensembl chr 9:87,238,375...87,263,967
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G |
Dgkd |
diacylglycerol kinase, delta |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
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G |
Dis3l2 |
DIS3-like 3'-5' exoribonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616
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G |
Dnajb3 |
DnaJ heat shock protein family (Hsp40) member B3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,795,542...88,796,555
Ensembl chr 9:88,795,488...88,796,560
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G |
Ecel1 |
endothelin converting enzyme-like 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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G |
Efhd1 |
EF-hand domain family, member D1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
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G |
Eif4e2 |
eukaryotic translation initiation factor 4E family member 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,886,126...87,914,470
Ensembl chr 9:87,878,085...87,914,482
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G |
Gigyf2 |
GRB10 interacting GYF protein 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715
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G |
Gpr55 |
G protein-coupled receptor 55 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,584,906...86,640,601
Ensembl chr 9:86,590,885...86,640,613
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G |
Hjurp |
Holliday junction recognition protein |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728
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G |
Htr2b |
5-hydroxytryptamine receptor 2B |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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G |
Itm2c |
integral membrane protein 2C |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,545,927...86,559,745
Ensembl chr 9:86,545,921...86,559,742
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G |
Kcnj13 |
potassium inwardly-rectifying channel, subfamily J, member 13 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112
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G |
Mroh2a |
maestro heat-like repeat family member 2A |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,814,515...88,862,346
Ensembl chr 9:88,814,197...88,852,607
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G |
Ncl |
nucleolin |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136
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G |
Neu2 |
neuraminidase 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,218,494...88,267,356
Ensembl chr 9:88,249,135...88,267,355
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G |
Ngef |
neuronal guanine nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,146,956...88,244,454
Ensembl chr 9:88,146,956...88,244,914
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G |
Nmur1 |
neuromedin U receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,033,231...87,038,070
Ensembl chr 9:87,033,279...87,036,684
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G |
Nppc |
natriuretic peptide C |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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G |
Pde6d |
phosphodiesterase 6D |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
OMIM ClinVar |
PMID:9536098 PMID:17496142 PMID:17576681 PMID:24166846 PMID:25741868 PMID:28492532 PMID:30423442 More...
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NCBI chr 9:87,192,989...87,237,979
Ensembl chr 9:87,192,983...87,237,969
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G |
Prss56 |
serine protease 56 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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G |
Psmd1 |
proteasome 26S subunit, non-ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211
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G |
Ptma |
prothymosin alpha |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
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G |
Sag |
S-antigen visual arrestin |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
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G |
Snorc |
secondary ossification center associated regulator of chondrocyte maturation |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,140,510...88,145,527
Ensembl chr 9:88,140,419...88,145,891
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G |
Snord20 |
small nucleolar RNA, C/D box 20 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147
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G |
Snord82 |
small nucleolar RNA, C/D box 82 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586
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G |
Sp100 |
SP100 nuclear antigen |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,310,990...86,377,036
Ensembl chr 9:86,311,032...86,377,034
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G |
Sp110 |
SP110 nuclear body protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670
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G |
Sp140 |
SP140 nuclear body protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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G |
Spata3 |
spermatogenesis associated 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,660,352...86,672,272
Ensembl chr 9:86,659,784...86,672,272
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G |
Spp2 |
secreted phosphoprotein 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:89,006,858...89,026,676
Ensembl chr 9:89,007,175...89,026,688
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G |
Tex44 |
testis expressed 44 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,075,684...87,077,102
Ensembl chr 9:87,075,684...87,077,102
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G |
Trpm8 |
transient receptor potential cation channel, subfamily M, member 8 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552
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G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a2 |
UDP glucuronosyltransferase 1 family, polypeptide A2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a3 |
UDP glycosyltransferase 1 family, polypeptide A3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a5 |
UDP glucuronosyltransferase family 1 member A5 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a6 |
UDP glucuronosyltransferase family 1 member A6 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a9 |
UDP glucuronosyltransferase family 1 member A9 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Usp40 |
ubiquitin specific peptidase 40 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,607,920...88,678,940
Ensembl chr 9:88,607,930...88,678,914
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G |
Arid4a |
AT-rich interaction domain 4A |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
ClinVar |
PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 |
|
NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510
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G |
Kiaa0586 |
KIAA0586 homolog |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
OMIM ClinVar |
PMID:2080096 PMID:2609613 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301500 PMID:24033266 PMID:25640679 PMID:25741868 PMID:25954003 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:26938784 PMID:27618451 PMID:28125082 PMID:28490743 PMID:28492532 PMID:28497568 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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G |
Psma3 |
proteasome 20S subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
ClinVar |
PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 |
|
NCBI chr 6:89,483,741...89,503,775
Ensembl chr 6:89,483,727...89,504,965
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G |
Timm9 |
translocase of inner mitochondrial membrane 9 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
ClinVar |
PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 |
|
NCBI chr 6:89,610,094...89,622,924
Ensembl chr 6:89,610,094...89,622,924
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G |
Tomm20l |
translocase of outer mitochondrial membrane 20 like |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
ClinVar |
PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 |
|
NCBI chr 6:89,594,016...89,612,070
Ensembl chr 6:89,599,873...89,610,147
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G |
Atp6v0a2 |
ATPase H+ transporting V0 subunit a2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 24 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069
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G |
Tctn2 |
tectonic family member 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 24 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 PMID:22331178 PMID:23169490 PMID:25118024 PMID:25741868 PMID:25741913 PMID:25741914 PMID:26092869 PMID:26729329 PMID:28492532 PMID:31428121 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
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|
G |
Atad3a |
ATPase family, AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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G |
C1qtnf12 |
C1q and TNF related 12 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
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|
G |
C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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|
G |
Ccdc27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
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G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
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G |
Cdk11b |
cyclin-dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
OMIM ClinVar |
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 PMID:21031596 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 PMID:35372954 More...
|
|
NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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|
G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
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|
G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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|
G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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G |
Ints11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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|
G |
Isg15 |
ISG15 ubiquitin-like modifier |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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|
G |
Klhl17 |
kelch-like family member 17 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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G |
Lrrc47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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G |
Megf6 |
multiple EGF-like-domains 6 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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G |
Mir200a |
microRNA 200a |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,648,494...166,648,582
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G |
Mir200b |
microRNA 200b |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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G |
Mir429 |
microRNA 429 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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G |
Mmp23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
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G |
Mxra8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
|
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G |
Noc2l |
NOC2-like nucleolar associated transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,820,150...166,831,949
Ensembl chr 5:166,820,161...166,831,949
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G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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G |
Plch2 |
phospholipase C, eta 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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G |
Plekhn1 |
pleckstrin homology domain containing N1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
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G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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G |
Prkcz |
protein kinase C, zeta |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,462,610...165,465,213
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G |
Pusl1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611
|
|
G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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G |
Rnf223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751
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Samd11 |
sterile alpha motif domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,831,681...166,859,805
Ensembl chr 5:166,831,663...166,850,009
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Sdf4 |
stromal cell derived factor 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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Ski |
Ski proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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Slc35e2b |
solute carrier family 35, member E2B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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Smim1 |
small integral membrane protein 1 (Vel blood group) |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,579,327...164,584,650
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Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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Tas1r3 |
taste 1 receptor member 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742
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Tmem240 |
transmembrane protein 240 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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Tmem52 |
transmembrane protein 52 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433
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Tmem88b |
transmembrane protein 88B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
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Tnfrsf14 |
TNF receptor superfamily member 14 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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Tnfrsf18 |
TNF receptor superfamily member 18 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Tnfrsf4 |
TNF receptor superfamily member 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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Tp73 |
tumor protein p73 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Tprg1l |
tumor protein p63 regulated 1-like |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
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Ttc34 |
tetratricopeptide repeat domain 34 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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Ttll10 |
tubulin tyrosine ligase like 10 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
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Vwa1 |
von Willebrand factor A domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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Wrap73 |
WD repeat containing, antisense to TP73 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
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Katnip |
katanin interacting protein |
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ISO ISS |
ClinVar Annotator: match by term: Joubert syndrome 26 | ClinVar Annotator: match by term: KATNIP-related condition OMIM:616784 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25741916 PMID:26714646 PMID:27245168 PMID:28492532 More...
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NCBI chr 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766
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B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 27 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26477546 PMID:28492532 PMID:32622957 PMID:34906502 More...
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 28 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21258341 PMID:23351400 PMID:23736532 PMID:24033266 PMID:24886560 PMID:25363768 PMID:25741868 PMID:26092869 PMID:26490104 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:30055837 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31456290 PMID:31964843 PMID:34008892 PMID:34011629 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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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:25741913 PMID:25741914 PMID:25741916 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26541515 PMID:26759440 PMID:28041643 PMID:28097321 PMID:28118669 PMID:28125082 PMID:28431631 PMID:28442542 PMID:28492532 PMID:29146704 PMID:29186038 PMID:29343940 PMID:30055837 PMID:31130284 PMID:31624253 PMID:32165824 PMID:32865313 PMID:33879512 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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Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 3 |
ClinVar |
PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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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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Armc9 |
armadillo repeat containing 9 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 30 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28625504 PMID:29159890 PMID:31474318 More...
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NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
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Cep120 |
centrosomal protein 120 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 31 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27208211 PMID:28492532 |
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NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964
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Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 32 |
ClinVar OMIM |
PMID:16199547 PMID:22508808 PMID:25741868 PMID:27930734 PMID:28492532 PMID:28965847 More...
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NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 33 |
OMIM ClinVar |
PMID:25741868 PMID:26167768 PMID:28492532 PMID:29695797 PMID:30858804 PMID:31474318 More...
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NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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Arl3 |
ADP ribosylation factor like GTPase 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 35 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30269812 |
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NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
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Dnajc9 |
DnaJ heat shock protein family (Hsp40) member C9 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 36 |
ClinVar |
PMID:25741868 |
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NCBI chr15:3,923,842...3,928,118
Ensembl chr15:3,923,268...3,928,118
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Fam149b1 |
family with sequence similarity 149, member B1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 36 |
OMIM ClinVar |
PMID:25741868 PMID:30905400 |
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NCBI chr15:3,929,190...3,967,140
Ensembl chr15:3,929,190...3,966,997
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Togaram1 |
TOG array regulator of axonemal microtubules 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 37 |
OMIM ClinVar |
PMID:25741868 PMID:32453716 PMID:32747439 |
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NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
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4933427D14Rikl |
RIKEN cDNA 4933427D14 gene like |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 38 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26643951 PMID:28220259 PMID:28492532 PMID:29138412 More...
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NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
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Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 39 |
OMIM ClinVar |
PMID:25741868 PMID:33791682 PMID:35137054 |
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NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Ahi1 |
Abelson helper integration site 1 |
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ISO |
DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) |
RGD |
PMID:17409309 |
RGD:7246903 |
NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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Mall |
mal, T-cell differentiation protein-like |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785
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Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 4 CTD Direct Evidence: marker/mechanism associated with Kidney Diseases, Cystic;DNA:mutation |
OMIM ClinVar CTD RGD |
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16155189 PMID:16199547 PMID:16762963 PMID:17576681 PMID:17855640 PMID:18076122 PMID:23559409 PMID:23661369 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26499951 PMID:26673778 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:29974258 PMID:30108342 PMID:30773290 PMID:31822006 PMID:32483926 PMID:33193692 PMID:34090716 PMID:17409309 More...
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RGD:7246903 |
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nphp4 |
nephrocystin 4 |
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ISO |
DNA:mutations:exon, intron:multiple |
RGD |
PMID:15776426 |
RGD:11068164 |
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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Ift74 |
intraflagellar transport 74 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 40 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31690835 PMID:33531668 PMID:34539760 |
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NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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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:21493627 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:27208204 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:29178642 PMID:29217415 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:32139166 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:33924653 PMID:33946315 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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Tmem67 |
transmembrane protein 67 |
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ISO ISS |
ClinVar Annotator: match by term: Joubert syndrome 6 OMIM:610688 CTD Direct Evidence: marker/mechanism DNA:missense mutations, splice-site mutations: :multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 PMID:12368986 PMID:16199547 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23351400 PMID:23559409 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27434533 PMID:27457812 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28508964 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29568536 PMID:29891882 PMID:29974258 PMID:30055837 PMID:30455918 PMID:30476936 PMID:31019026 PMID:31319225 PMID:31589614 PMID:31738409 PMID:32000717 PMID:32404165 PMID:34006472 PMID:34645491 PMID:34675960 PMID:34964473 PMID:36305856 PMID:36617405 PMID:17160906 More...
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RGD:11072184 |
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Pkd2 |
polycystin 2, transient receptor potential cation channel |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 7 |
ClinVar |
PMID:19936001 PMID:25741868 PMID:28492532 |
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NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
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Rpgrip1 |
RPGR interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 7 |
ClinVar |
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NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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Rpgrip1l |
Rpgrip1-like |
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ISO ISS |
ClinVar Annotator: match by term: Joubert syndrome 7 OMIM:611560 CTD Direct Evidence: marker/mechanism DNA:missense mutations, splice-site mutation:exon, intron:multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:20301500 PMID:21866095 PMID:23351400 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31328266 PMID:31390572 PMID:33323469 PMID:35233738 PMID:35858853 PMID:17960139 More...
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RGD:11537350 |
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Arl13b |
ADP-ribosylation factor like GTPase 13B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 8 CTD Direct Evidence: marker/mechanism DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18674751 PMID:23150559 PMID:23153492 PMID:24033266 PMID:25138100 PMID:25741868 PMID:26092869 PMID:26132555 PMID:27153923 PMID:28492532 PMID:28787594 PMID:29255182 PMID:34447983 PMID:18674751 More...
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RGD:11553937 |
NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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Nsun3 |
NOP2/Sun RNA methyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 8 |
ClinVar |
PMID:28492532 |
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NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543
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Pros1 |
protein S |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 8 |
ClinVar |
PMID:28492532 |
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NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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Stx19 |
syntaxin 19 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 8 |
ClinVar |
PMID:28492532 |
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NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191
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Cav3 |
caveolin 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 9 |
ClinVar |
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NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
no_association |
ISO |
ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic CTD Direct Evidence: marker/mechanism DNA:splice-site mutation:intron:IVS19+1G>C (human) DNA:mutations: :multiple |
OMIM ClinVar CTD RGD |
PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18387594 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:23692786 PMID:24033266 PMID:24706459 PMID:25525159 PMID:25741868 PMID:25741913 PMID:25741914 PMID:25741916 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27894351 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28518168 PMID:29146704 PMID:29620724 PMID:30055837 PMID:30091983 PMID:31618753 PMID:32461654 PMID:32488064 PMID:33502066 PMID:34645488 PMID:34906502 PMID:19068953 PMID:22241855 PMID:22241855 More...
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RGD:11535976, RGD:11062645, RGD:11062645 |
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cep41 |
centrosomal protein 41 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic |
ClinVar |
PMID:20301500 PMID:22246503 PMID:25741868 PMID:28492532 PMID:30664616 |
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NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
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Oxtr |
oxytocin receptor |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 9 |
ClinVar |
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NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674
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Rpe65 |
retinoid isomerohydrolase RPE65 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 9 |
ClinVar |
PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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Smad6 |
SMAD family member 6 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 9 |
ClinVar |
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NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 PMID:22425360 PMID:22693042 PMID:23523602 PMID:24091540 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25741868 PMID:25741905 PMID:25741914 PMID:25846457 PMID:25920555 PMID:26092869 PMID:26694549 PMID:27081551 PMID:27158779 PMID:28125082 PMID:28289185 PMID:28431631 PMID:28454995 PMID:28492532 PMID:28771248 PMID:28976722 PMID:29146704 PMID:29321670 PMID:29605658 PMID:30408610 PMID:30919572 PMID:31158925 PMID:31216405 PMID:31980526 PMID:32037395 PMID:32233090 PMID:33176815 PMID:33774617 PMID:34008892 PMID:34091942 More...
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 34 | ClinVar Annotator: match by term: Meckel syndrome, type 10 |
OMIM ClinVar |
PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:31411728 PMID:33234550 More...
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 10 |
ClinVar |
PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 12 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:22773737 PMID:23559409 PMID:24033266 PMID:24876116 PMID:25492405 PMID:25741868 PMID:25741905 PMID:26294094 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Adcy7 |
adenylate cyclase 7 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311
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Brd7 |
bromodomain containing 7 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
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Cnep1r1 |
CTD nuclear envelope phosphatase 1 regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,932,631...18,947,667
Ensembl chr19:18,932,682...18,947,667
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Cyld |
CYLD lysine 63 deubiquitinase |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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Heatr3 |
HEAT repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
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Nkd1 |
NKD inhibitor of WNT signaling pathway 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,476,344...18,549,380
Ensembl chr19:18,476,344...18,549,380
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Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Sall1 |
spalt-like transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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Snx20 |
sorting nexin 20 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,435,935...18,445,108
Ensembl chr19:18,435,935...18,445,107
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Tent4b |
terminal nucleotidyltransferase 4B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,807,616...18,868,969
Ensembl chr19:18,807,525...18,869,537
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Zfp423 |
zinc finger protein 423 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Joubert syndrome 19 | ClinVar Annotator: match by term: Nephronophthisis 14 | ClinVar Annotator: match by term: ZNF423-related condition |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:22863007 PMID:25741868 PMID:26539891 PMID:28492532 PMID:30868567 PMID:32723786 PMID:32925911 More...
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NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373
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