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G |
Adnp |
activity-dependent neuroprotector homeobox |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 PMID:28492532 PMID:29475819 PMID:29724491 PMID:29911927 More...
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NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
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Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:25741868 PMID:30349098 PMID:34706719 |
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Armc9 |
armadillo repeat containing 9 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:25741868 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 |
Arx |
aristaless related homeobox |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:25741868 |
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NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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G |
Auts2 |
activator of transcription and developmental regulator AUTS2 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:31474318 |
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NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
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Bcl11a |
BCL11 transcription factor A |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:31474318 |
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NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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G |
Borcs5 |
BLOC-1 related complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
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NCBI chr 4:167,458,640...167,543,556
Ensembl chr 4:167,473,177...167,540,993
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C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:25741868 PMID:28492532 |
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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 |
Cdh2 |
cadherin 2 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum agenesis | ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:25741868 PMID:31585109 |
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NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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G |
Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:16199547 PMID:23225343 PMID:25741868 PMID:28492532 |
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NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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G |
Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Corpus callosum agenesis |
ClinVar |
PMID:12070251 PMID:12114483 PMID:16359492 PMID:17052327 PMID:20689175 PMID:25741868 PMID:32170002 PMID:32827181 More...
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Dcc |
DCC netrin 1 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Corpus callosum, agenesis of |
CTD ClinVar |
PMID:24808016 PMID:25741868 PMID:28250454 PMID:31589614 PMID:35246524 PMID:36123965 More...
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NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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G |
Dhx16 |
DEAH-box helicase 16 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:31256877 |
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NCBI chr20:2,862,000...2,874,991
Ensembl chr20:2,862,000...2,874,948
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G |
Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:25741868 |
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NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Fzd3 |
frizzled class receptor 3 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:31474318 |
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NCBI chr15:39,421,366...39,488,369
Ensembl chr15:39,421,355...39,488,369
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G |
Kif4a |
kinesin family member 4A |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:31474318 |
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NCBI chr X:65,721,746...65,824,277
Ensembl chr X:65,721,779...65,824,139
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Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum agenesis |
ClinVar |
PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:25326635 PMID:25741868 PMID:26350204 PMID:28369444 PMID:28492532 More...
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Setd2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Corpus callosum agenesis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 PMID:36474027 More...
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NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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G |
Sin3a |
SIN3 transcription regulator family member A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27399968 |
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NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:31474318 |
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NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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G |
Yars1 |
tyrosyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of |
ClinVar |
PMID:29232904 |
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NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833
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Cep41 |
centrosomal protein 41 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic |
ClinVar |
PMID:22246503 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 |
Foxg1 |
forkhead box G1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18627055 |
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NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
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G |
Kif7 |
kinesin family member 7 |
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ISO ISS |
DNA:missense,frameshift mutations:cds: DNA:mutations:cds,splice junction: CTD Direct Evidence: marker/mechanism OMIM:200990 ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic | ClinVar Annotator: match by term: Schinzel syndrome 1 |
OMIM CTD MouseDO ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19666503 PMID:21552264 PMID:21633164 PMID:22246503 PMID:22587682 PMID:23125460 PMID:24033266 PMID:24339784 PMID:25131622 PMID:25640679 PMID:25741868 PMID:26092869 PMID:26174511 PMID:26349186 PMID:26633542 PMID:26648833 PMID:27081521 PMID:28492532 PMID:28805617 PMID:29286531 PMID:29321670 PMID:29915382 PMID:30315573 PMID:31399769 PMID:32055034 PMID:32164589 PMID:32738303 PMID:33382518 PMID:36474027 PMID:21552264 PMID:23125460 More...
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RGD:11068757, RGD:11553832 |
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Shh |
sonic hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Acrocallosal syndrome |
ClinVar |
PMID:25741868 PMID:29321670 |
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NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Ticrr |
TOPBP1-interacting checkpoint and replication regulator |
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ISO |
ClinVar Annotator: match by term: Acrocallosal syndrome |
ClinVar |
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NCBI chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523
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Cdh2 |
cadherin 2 |
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ISO |
ClinVar Annotator: match by term: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
OMIM ClinVar |
PMID:18798333 PMID:25741868 PMID:28492532 PMID:31585109 PMID:31650526 |
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NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy |
ClinVar |
PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 |
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NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
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Cln6 |
CLN6, transmembrane ER protein |
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ISO |
ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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G |
Emc4 |
ER membrane protein complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy |
ClinVar |
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NCBI chr 3:99,169,711...99,174,730
Ensembl chr 3:99,169,711...99,174,729
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Nop10 |
NOP10 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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G |
Slc12a6 |
solute carrier family 12, member 6 |
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ISO ISS |
DNA:frameshift mutations, missense mutation:cds:multiple (human) OMIM:218000 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Agenesis of corpus callosum with peripheral neuropathy | ClinVar Annotator: match by term: Agenesis of corpus callosum with polyneuropathy | ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy |
MouseDO CTD ClinVar OMIM RGD |
PMID:1660691 PMID:9536098 PMID:12368912 PMID:12838516 PMID:16199547 PMID:16606917 PMID:17576681 PMID:17893295 PMID:18414213 PMID:18566107 PMID:20020398 PMID:21628467 PMID:23593405 PMID:24341143 PMID:25525159 PMID:25741868 PMID:26392352 PMID:27717089 PMID:28492532 PMID:30038111 PMID:31439721 PMID:16606917 More...
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RGD:1580594 |
NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
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G |
Foxh1 |
forkhead box H1 |
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ISS |
OMIM:202650 |
MouseDO |
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NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
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G |
Prrx1 |
paired related homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Agnathia-otocephaly complex CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868 More...
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NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866
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Trappc10 |
trafficking protein particle complex subunit 10 |
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ISS |
OMIM:202650 |
MouseDO |
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NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
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G |
Arx |
aristaless related homeobox |
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ISO |
ClinVar Annotator: match by term: Aicardi syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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G |
Kif15 |
kinesin family member 15 |
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ISO |
ClinVar Annotator: match by term: Braddock-carey syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:28150392 |
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NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750
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G |
Tp53bp2 |
tumor protein p53 binding protein, 2 |
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ISS |
OMIM:612530 |
MouseDO |
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NCBI chr13:94,088,769...94,145,436
Ensembl chr13:94,088,709...94,145,432
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G |
Clcc1 |
chloride channel CLIC-like 1 |
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ISO |
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: GPSM2-Related Disorders |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913
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G |
Gpsm2 |
G-protein signaling modulator 2 |
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ISO |
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction | ClinVar Annotator: match by term: GPSM2-Related Disorders CTD Direct Evidence: marker/mechanism DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human); |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:10449658 PMID:17576681 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 PMID:23208854 PMID:23494849 PMID:24033266 PMID:25741868 PMID:26445815 PMID:26467025 PMID:27312216 PMID:28492532 PMID:32747562 PMID:22578326 More...
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RGD:11062393 |
NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154
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G |
Mrps16 |
mitochondrial ribosomal protein S16 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 |
OMIM CTD ClinVar |
PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 |
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NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656
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G |
Arx |
aristaless related homeobox |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome |
OMIM CTD ClinVar |
PMID:1605226 PMID:14722918 PMID:18414213 PMID:22252899 PMID:25741868 PMID:34298581 More...
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NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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G |
Igbp1 |
immunoglobulin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:28492532 |
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NCBI chr X:65,582,832...65,605,078
Ensembl chr X:65,582,821...65,606,049
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G |
Frmd4a |
FERM domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia |
OMIM ClinVar |
PMID:25388005 PMID:25741868 PMID:28492532 |
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NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687
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G |
Lmbrd1 |
LMBR1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Donnai-Barrow syndrome |
ClinVar |
PMID:19136951 PMID:25741868 PMID:28492532 |
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NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
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G |
Lrp2 |
LDL receptor related protein 2 |
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ISO ISS |
ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition OMIM:222448 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 PMID:17576681 PMID:17632512 PMID:18414213 PMID:20301732 PMID:20359920 PMID:23033978 PMID:23048173 PMID:24319098 PMID:24406863 PMID:24876117 PMID:25158045 PMID:25326635 PMID:25682901 PMID:25741868 PMID:26118977 PMID:26284228 PMID:26350204 PMID:26529358 PMID:28492532 PMID:28539120 PMID:29992659 PMID:30167849 PMID:32238909 PMID:33103447 PMID:33461977 PMID:34979047 PMID:36474027 PMID:38177409 More...
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NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
DNA:missense mutation:exon:p.R28L (c.83G>T) (human) ClinVar Annotator: match by term: FG syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:25741868 PMID:19200522 |
RGD:11576290 |
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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G |
Flna |
filamin A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17632775 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome DNA:missense mutation:cds:2881C>T(p.R961W)(human) DNA:missense mutation:cds:p.G958E(human) |
CTD ClinVar RGD |
PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 PMID:16199547 PMID:16700052 PMID:17334363 PMID:17369503 PMID:17576681 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:23395478 PMID:23506379 PMID:23757202 PMID:24033266 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25644381 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26350204 PMID:26467025 PMID:26813965 PMID:27081531 PMID:27312080 PMID:27500536 PMID:27620904 PMID:27980443 PMID:28369444 PMID:28492532 PMID:28544239 PMID:28794916 PMID:30006928 PMID:30729724 PMID:31536828 PMID:32174975 PMID:32371413 PMID:32410215 PMID:32682435 PMID:32715471 PMID:32779332 PMID:33023636 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34008892 PMID:34079076 PMID:34573309 PMID:36271811 PMID:17334363 PMID:20507344 More...
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RGD:12910952, RGD:12910948 |
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Foxo4 |
forkhead box O4 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
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G |
Gjb1 |
gap junction protein, beta 1 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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G |
Il2rg |
interleukin 2 receptor subunit gamma |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
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G |
Itgb1bp2 |
integrin subunit beta 1 binding protein 2 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,572,537...66,577,174
Ensembl chr X:66,572,537...66,577,174
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
OMIM ClinVar |
PMID:6711603 PMID:8279489 PMID:9286458 PMID:9536098 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 PMID:17576681 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20507344 PMID:20981778 PMID:23091001 PMID:23395478 PMID:23506379 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25644381 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26350204 PMID:27081531 PMID:27286923 PMID:27312080 PMID:27500536 PMID:27620904 PMID:27980443 PMID:28369444 PMID:28492532 PMID:28544239 PMID:28794916 PMID:30006928 PMID:30729724 PMID:31322785 PMID:31536828 PMID:32174975 PMID:32371413 PMID:32682435 PMID:32715471 PMID:32779332 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34079076 PMID:34573309 PMID:36271811 More...
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Nlgn3 |
neuroligin 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
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G |
Nono |
non-POU domain containing, octamer-binding |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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G |
Slc7a3 |
solute carrier family 7 member 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,210,071...66,216,482
Ensembl chr X:66,210,081...66,215,708
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G |
Snx12 |
sorting nexin 12 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,226,995...66,356,945
Ensembl chr X:66,227,053...66,356,950
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G |
Taf1 |
TATA-box binding protein associated factor 1 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543
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G |
Tex11 |
testis expressed 11 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:65,932,904...66,196,525
Ensembl chr X:65,932,988...66,196,187
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G |
Zmym3 |
zinc finger MYM-type containing 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: FG syndrome 2 |
OMIM ClinVar |
PMID:10982489 PMID:12612583 PMID:16299064 PMID:16417552 PMID:16822260 PMID:17632775 PMID:18414213 PMID:22522697 PMID:25167861 PMID:25741868 PMID:26467025 PMID:28133863 PMID:28492532 PMID:29720203 PMID:30089473 PMID:30712057 PMID:30986657 PMID:35000503 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4 |
OMIM ClinVar |
PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23406872 PMID:23871722 PMID:24278995 PMID:24505460 PMID:24781210 PMID:25741868 PMID:26467025 PMID:27652284 PMID:27799067 PMID:28139025 PMID:28492532 PMID:28944139 PMID:29878067 PMID:30525188 PMID:30549415 PMID:32989192 PMID:33090494 PMID:35550617 PMID:37190086 More...
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NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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G |
Zfp148 |
zinc finger protein 148 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | ClinVar Annotator: match by term: ZNF148-related condition |
OMIM ClinVar |
PMID:12840224 PMID:25741868 PMID:27964749 PMID:28492532 PMID:36444493 |
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NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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G |
B2m |
beta-2 microglobulin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
Chat |
choline O-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 |
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NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
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G |
Eif3j |
eukaryotic translation initiation factor 3, subunit J |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
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NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
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G |
Gch1 |
GTP cyclohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 |
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NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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G |
Patl2 |
PAT1 homolog 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:19105190 PMID:20110243 PMID:22154821 PMID:26556829 PMID:28492532 |
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NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Slc25a13 |
solute carrier family 25 member 13 |
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ISO |
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM |
ClinVar |
PMID:21507300 PMID:23053473 PMID:24069319 PMID:25741868 PMID:28492532 |
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NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
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G |
Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum OMIM:604360 ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum |
OMIM CTD ClinVar MouseDO |
PMID:2223744 PMID:2795747 PMID:3283541 PMID:9536098 PMID:16199547 PMID:16773502 PMID:17322883 PMID:17576681 PMID:17717710 PMID:18067136 PMID:18079167 PMID:18332254 PMID:18337587 PMID:18361476 PMID:18408091 PMID:18414213 PMID:18439221 PMID:18586399 PMID:18663179 PMID:18717728 PMID:18835492 PMID:19087158 PMID:19105190 PMID:19194956 PMID:19196735 PMID:19438933 PMID:19466474 PMID:19513778 PMID:19763152 PMID:19917823 PMID:20110243 PMID:20301389 PMID:20307669 PMID:20390432 PMID:20571989 PMID:20971220 PMID:21035867 PMID:21381113 PMID:21625935 PMID:21896784 PMID:22154821 PMID:22175763 PMID:22237444 PMID:22246010 PMID:22406018 PMID:22696581 PMID:22700954 PMID:23043354 PMID:23121729 PMID:23221952 PMID:23438842 PMID:23443022 PMID:23733235 PMID:23812641 PMID:23881933 PMID:24033266 PMID:24090761 PMID:24451228 PMID:24482476 PMID:24731568 PMID:24833714 PMID:25059394 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25525159 PMID:25588603 PMID:25640679 PMID:25741868 PMID:25769290 PMID:26046366 PMID:26064709 PMID:26183056 PMID:26374131 PMID:26467025 PMID:26539891 PMID:26556829 PMID:26601740 PMID:26633542 PMID:26671123 PMID:26742954 PMID:26755014 PMID:27016404 PMID:27066562 PMID:27071356 PMID:27077743 PMID:27084228 PMID:27180005 PMID:27217339 PMID:27256065 PMID:27318863 PMID:27457812 PMID:27544499 PMID:27790088 PMID:27884173 PMID:27900367 PMID:27904835 PMID:27957547 PMID:28119845 PMID:28130640 PMID:28132690 PMID:28160950 PMID:28492532 PMID:28554332 PMID:28832565 PMID:28933964 PMID:28991695 PMID:29246610 PMID:29342275 PMID:29389947 PMID:29482223 PMID:29525178 PMID:29691679 PMID:29732542 PMID:29908077 PMID:29946510 PMID:29949766 PMID:29970488 PMID:29980238 PMID:30081747 PMID:30212743 PMID:30363882 PMID:30373780 PMID:30564185 PMID:30574063 PMID:30609409 PMID:30778698 PMID:31227335 PMID:31281085 PMID:31289639 PMID:31407473 PMID:31475037 PMID:31589614 PMID:31692161 PMID:31900114 PMID:32005694 PMID:32007496 PMID:32007754 PMID:32166880 PMID:32214227 PMID:32293029 PMID:32383541 PMID:32397312 PMID:32409511 PMID:32483926 PMID:32579787 PMID:32638105 PMID:32671691 PMID:32729724 PMID:32860008 PMID:32961396 PMID:32987860 PMID:32989326 PMID:33059505 PMID:33084218 PMID:33098801 PMID:33144682 PMID:33397523 PMID:33414559 PMID:33430805 PMID:33589474 PMID:33624863 PMID:33638609 PMID:33669240 PMID:33866115 PMID:34153142 PMID:34284285 PMID:34782662 PMID:34906502 PMID:35047667 PMID:35066644 PMID:35254204 PMID:35326432 PMID:35464835 PMID:35572931 PMID:35752680 PMID:35896380 PMID:35906604 PMID:36028943 PMID:36139378 PMID:37223130 PMID:37712079 More...
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NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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G |
Tbr1 |
T-box brain transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 |
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NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041
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G |
Trim69 |
tripartite motif-containing 69 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
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G |
Adck5 |
aarF domain containing kinase 5 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:108,301,623...108,319,439
Ensembl chr 7:108,301,415...108,319,436
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G |
Boc |
BOC cell adhesion associated, oncogene regulated |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28677295 |
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NCBI chr11:56,122,697...56,198,060
Ensembl chr11:56,122,750...56,198,059
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G |
Bop1 |
BOP1 ribosomal biogenesis factor |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931
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G |
Ccdc166 |
coiled-coil domain containing 166 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:107,693,572...107,695,375
Ensembl chr 7:107,693,574...107,695,375
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G |
Cdon |
cell adhesion associated, oncogene regulated |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Holoprosencephaly spectrum disorder |
ClinVar |
PMID:20301702 PMID:25741868 PMID:26728615 PMID:28492532 |
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NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
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G |
Clybl |
citramalyl-CoA lyase |
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ISO |
ClinVar Annotator: match by term: Lobar holoprosencephaly |
ClinVar |
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NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695
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G |
Cnot1 |
CCR4-NOT transcription complex, subunit 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:25741868 PMID:28525974 PMID:31006510 PMID:31006513 PMID:32553196 |
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NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574
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G |
Cpsf1 |
cleavage and polyadenylation specific factor 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:108,319,429...108,330,018
Ensembl chr 7:108,319,434...108,329,934
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G |
Creb1 |
cAMP responsive element binding protein 1 |
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ISO |
protein:increased localization: prechordal mesoderm, nucleus |
RGD |
PMID:18338389 |
RGD:12801437 |
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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G |
Cripto |
cripto, EGF-CFC family member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12073012 |
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NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
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G |
Cyc1 |
cytochrome c-1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:108,067,106...108,069,483
Ensembl chr 7:108,067,115...108,069,479
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G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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G |
Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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G |
Dgat1 |
diacylglycerol O-acyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
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G |
Disp1 |
dispatched RND transporter family member 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28640243 |
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NCBI chr13:94,720,928...94,866,695
Ensembl chr13:94,720,928...94,866,702
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G |
Dll1 |
delta like canonical Notch ligand 1 |
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ISO |
ClinVar Annotator: match by term: Alobar holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:56,312,062...56,320,177
Ensembl chr 1:56,312,066...56,320,179
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G |
Dock9 |
dedicator of cytokinesis 9 |
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ISO |
ClinVar Annotator: match by term: Lobar holoprosencephaly |
ClinVar |
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NCBI chr15:98,611,518...98,883,306
Ensembl chr15:98,618,084...98,883,153
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G |
Eef1d |
eukaryotic translation elongation factor 1 delta |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:107,581,930...107,596,735
Ensembl chr 7:107,581,930...107,608,799
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G |
Eppk1 |
epiplakin 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:107,816,919...107,842,946
Ensembl chr 7:107,817,693...107,831,159
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G |
Exosc4 |
exosome component 4 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:108,047,831...108,050,573
Ensembl chr 7:108,047,831...108,050,573
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G |
Fam83h |
family with sequence similarity 83, member H |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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G |
Fbxl6 |
F-box and leucine-rich repeat protein 6 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:108,259,097...108,262,528
Ensembl chr 7:108,257,160...108,262,513
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G |
Fgf8 |
fibroblast growth factor 8 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Semilobar holoprosencephaly |
ClinVar |
PMID:20463092 PMID:22399515 PMID:25131394 PMID:25741868 PMID:26467025 PMID:26857713 PMID:26931467 PMID:27363716 PMID:28492532 PMID:29584859 More...
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NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly | ClinVar Annotator: match by term: Semilobar holoprosencephaly |
ClinVar |
PMID:12627230 PMID:16199547 PMID:17154279 PMID:17530415 PMID:18034870 PMID:23812909 PMID:25741868 PMID:26931467 PMID:26942290 PMID:27363716 PMID:28492532 PMID:31200363 More...
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NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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G |
Foxh1 |
forkhead box H1 |
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ISO |
ClinVar Annotator: match by term: FOXH1-related condition | ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:18538293 PMID:25741868 PMID:28492532 |
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NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
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G |
Gas1 |
growth arrest-specific 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17525797 |
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NCBI chr17:4,482,168...4,485,153
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G |
Gfus |
GDP-L-fucose synthase |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:107,612,087...107,617,005
Ensembl chr 7:107,612,094...107,616,948
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G |
Ggact |
gamma-glutamylamine cyclotransferase |
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ISO |
ClinVar Annotator: match by term: Lobar holoprosencephaly |
ClinVar |
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NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:27585885 |
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Gli4 |
GLI family zinc finger 4 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,325,584...107,330,911
Ensembl chr 7:107,325,607...107,330,907
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G |
Gml |
glycosylphosphatidylinositol anchored molecule like |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:106,683,749...106,712,802
Ensembl chr 7:106,689,410...106,712,724
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G |
Gpaa1 |
glycosylphosphatidylinositol anchor attachment 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,051,896...108,055,479
Ensembl chr 7:108,051,861...108,055,484
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G |
Gpihbp1 |
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702
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G |
Gpr18 |
G protein-coupled receptor 18 |
|
ISO |
ClinVar Annotator: match by term: Lobar holoprosencephaly |
ClinVar |
|
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NCBI chr15:98,997,427...99,001,177
Ensembl chr15:98,997,259...99,001,470
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G |
Gpr183 |
G protein-coupled receptor 183 |
|
ISO |
ClinVar Annotator: match by term: Lobar holoprosencephaly |
ClinVar |
|
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NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559
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G |
Gpt |
glutamic--pyruvic transaminase |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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G |
Grina |
glutamate ionotropic receptor NMDA type subunit associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,962,194...107,965,372
Ensembl chr 7:107,962,207...107,965,366
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G |
Gsdmd |
gasdermin D |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,542,489...107,547,051
Ensembl chr 7:107,542,083...107,547,055
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G |
Hgh1 |
HGH1 homolog |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,091,918...108,094,740
Ensembl chr 7:108,091,951...108,094,737
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G |
Hsf1 |
heat shock transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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G |
Kifc2 |
kinesin family member C2 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:108,380,634...108,388,364
Ensembl chr 7:108,376,011...108,388,484
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G |
Lama5 |
laminin subunit alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28735299 PMID:29534211 PMID:31680349 |
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NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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G |
Ly6d |
lymphocyte antigen 6 family member D |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:106,643,225...106,644,733
Ensembl chr 7:106,643,232...106,644,733
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G |
Ly6e |
lymphocyte antigen 6 family member E |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:106,935,530...106,939,689
Ensembl chr 7:106,935,761...106,939,689
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G |
Ly6h |
lymphocyte antigen 6 family member H |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,258,779...107,261,270
Ensembl chr 7:107,258,779...107,261,454
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G |
Lynx1 |
Ly6/neurotoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:106,632,800...106,638,003
Ensembl chr 7:106,632,797...106,638,023
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G |
Lypd2 |
Ly6/Plaur domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:106,617,561...106,619,598
Ensembl chr 7:106,617,561...106,619,598
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G |
Maf1 |
MAF1 homolog, negative regulator of RNA polymerase III |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,075,173...108,078,252
Ensembl chr 7:108,075,189...108,078,249
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G |
Mafa |
MAF bZIP transcription factor A |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690
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G |
Mapk15 |
mitogen-activated protein kinase 15 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
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NCBI chr 7:107,694,907...107,714,640
Ensembl chr 7:107,694,964...107,714,645
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G |
Matn4 |
matrilin 4 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:25558065 |
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NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865
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G |
Mfsd3 |
major facilitator superfamily domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,419,644...108,423,469
Ensembl chr 7:108,421,350...108,423,461
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G |
Mroh1 |
maestro heat-like repeat family member 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,098,708...108,172,146
Ensembl chr 7:108,102,734...108,172,146
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G |
Mroh6 |
maestro heat-like repeat family member 6 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,566,212...107,576,469
Ensembl chr 7:107,569,554...107,574,173
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G |
Naprt |
nicotinate phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,576,645...107,580,102
Ensembl chr 7:107,576,627...107,580,102
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G |
Nodal |
nodal growth differentiation factor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Holoprosencephaly sequence |
CTD ClinVar |
PMID:19064609 PMID:19553149 PMID:22352765 PMID:23264560 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
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G |
Nosip |
nitric oxide synthase interacting protein |
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ISS |
|
MouseDO |
|
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NCBI chr 1:95,543,329...95,559,101
Ensembl chr 1:95,543,360...95,558,650
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G |
Nrbp2 |
nuclear receptor binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,798,642...107,805,225
Ensembl chr 7:107,799,497...107,805,230
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G |
Oplah |
5-oxoprolinase (ATP-hydrolysing) |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297
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G |
Parp10 |
poly (ADP-ribose) polymerase family, member 10 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,949,031...107,958,377
Ensembl chr 7:107,949,043...107,958,304
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G |
Pcca |
propionyl-CoA carboxylase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Lobar holoprosencephaly |
ClinVar |
|
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NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
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G |
Pgap1 |
post-GPI attachment to proteins inositol deacylase 1 |
|
ISS |
|
MouseDO |
|
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NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464
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G |
Pign |
phosphatidylinositol glycan anchor biosynthesis, class N |
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ISS |
|
MouseDO |
|
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NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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G |
Plec |
plectin |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
|
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G |
Ppp1r16a |
protein phosphatase 1, regulatory subunit 16A |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,391,664...108,414,812
Ensembl chr 7:108,391,656...108,419,509
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G |
Ptch1 |
patched 1 |
|
ISO |
DNA:missense mutations:exon:multiple ClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar RGD |
PMID:8302318 PMID:11941477 PMID:17001668 PMID:21188540 PMID:22703879 PMID:22820256 PMID:24055113 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26489027 PMID:26893459 PMID:27153395 PMID:28492532 PMID:11941477 More...
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RGD:12798567 |
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Puf60 |
poly-U binding splicing factor 60 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,782,799...107,793,759
Ensembl chr 7:107,782,770...107,794,531
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G |
Pycr3 |
pyrroline-5-carboxylate reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,603,543...107,608,831
Ensembl chr 7:107,581,930...107,608,799
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G |
Recql4 |
RecQ like helicase 4 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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|
G |
Rhpn1 |
rhophilin, Rho GTPase binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,391,948...107,402,713
Ensembl chr 7:107,391,984...107,402,713
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G |
Scrib |
scribble planar cell polarity protein |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,759,343...107,782,364
Ensembl chr 7:107,759,343...107,782,331
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G |
Scrt1 |
scratch family transcriptional repressor 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,240,986...108,244,636
Ensembl chr 7:108,240,986...108,244,636
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G |
Scx |
scleraxis bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,176,608...108,178,626
Ensembl chr 7:108,176,608...108,178,626
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G |
Sharpin |
SHANK-associated RH domain interactor |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
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G |
Shh |
sonic hedgehog signaling molecule |
treatment |
ISO |
DNA:mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Holoprosencephaly sequence DNA:missense mutation:CDS:p.V88D (263A>T) (human) DNA:missense mutations, non-sense mutation:exon:multiple |
CTD ClinVar RGD |
PMID:15107988 PMID:17525797 PMID:23264560 PMID:27585885 PMID:29584859 PMID:31642701 PMID:8896572 PMID:18338389 PMID:11919111 PMID:10441331 More...
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RGD:9743971, RGD:12801437, RGD:12801425, RGD:12798570 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Six3 |
SIX homeobox 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10369266 PMID:10369266 PMID:15523651 |
RGD:1599336, RGD:1599335 |
NCBI chr 6:9,039,017...9,043,336
Ensembl chr 6:9,036,434...9,053,301
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G |
Slc15a1 |
solute carrier family 15 member 1 |
|
ISO |
ClinVar Annotator: match by term: Lobar holoprosencephaly |
ClinVar |
|
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NCBI chr15:98,537,641...98,582,544
Ensembl chr15:98,537,641...98,582,545
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G |
Slc39a4 |
solute carrier family 39 member 4 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,333,368...108,337,553
Ensembl chr 7:108,333,381...108,337,553
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G |
Slc52a2 |
solute carrier family 52 member 2 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034
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G |
Slurp1 |
secreted Ly6/Plaur domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:106,611,949...106,613,365
Ensembl chr 7:106,611,949...106,613,365
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G |
Spatc1 |
spermatogenesis and centriole associated 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,980,857...108,007,716
Ensembl chr 7:107,983,796...108,007,479
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G |
Stk24 |
serine/threonine kinase 24 |
|
ISO |
ClinVar Annotator: match by term: Lobar holoprosencephaly |
ClinVar |
|
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NCBI chr15:98,363,707...98,458,940
Ensembl chr15:98,365,791...98,460,553
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
|
ISO |
ClinVar Annotator: match by term: Microform holoprosencephaly |
ClinVar |
PMID:24728327 PMID:27363716 PMID:28492532 |
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NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
Tgif1 |
TGFB-induced factor homeobox 1 |
|
ISO |
holoprosencephaly-4, OMIM:142946 ClinVar Annotator: match by term: Holoprosencephaly sequence CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:16705179 PMID:25741868 PMID:28492532 PMID:10835638 |
RGD:1599407 |
NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
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G |
Tigd5 |
tigger transposable element derived 5 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,596,724...107,599,243
Ensembl chr 7:107,596,724...107,599,243
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G |
Tm9sf2 |
transmembrane 9 superfamily member 2 |
|
ISO |
ClinVar Annotator: match by term: Lobar holoprosencephaly |
ClinVar |
|
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NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
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G |
Tmem249 |
transmembrane protein 249 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,256,535...108,259,429
Ensembl chr 7:108,257,160...108,262,513
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G |
Tmtc4 |
transmembrane O-mannosyltransferase targeting cadherins 4 |
|
ISO |
ClinVar Annotator: match by term: Lobar holoprosencephaly |
ClinVar |
|
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NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
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G |
Tonsl |
tonsoku-like, DNA repair protein |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750
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G |
Top1mt |
DNA topoisomerase I mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,338,092...107,368,125
Ensembl chr 7:107,342,527...107,366,049
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G |
Twsg1 |
twisted gastrulation BMP signaling modulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15013800 |
|
NCBI chr 9:105,533,116...105,567,460
Ensembl chr 9:105,533,136...105,567,479
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|
G |
Ubac2 |
UBA domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Lobar holoprosencephaly |
ClinVar |
|
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NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787
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G |
Vps28 |
VPS28 subunit of ESCRT-I |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,341,989...108,345,837
Ensembl chr 7:108,341,989...108,345,837
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G |
Zc3h3 |
zinc finger CCCH type containing 3 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,440,694...107,525,451
Ensembl chr 7:107,440,694...107,525,451
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G |
Zfp41 |
zinc finger protein 41 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,307,303...107,320,164
Ensembl chr 7:107,306,867...107,320,270
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G |
Zfp623 |
zinc finger protein 623 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,627,334...107,636,254
Ensembl chr 7:107,627,267...107,636,321
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G |
Zfp707 |
zinc finger protein 707 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:107,679,597...107,686,556
Ensembl chr 7:107,650,217...107,703,459
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G |
Zftraf1 |
zinc finger TRAF type containing 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:108,363,989...108,377,428
Ensembl chr 7:108,364,381...108,380,021
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|
G |
Zic2 |
Zic family member 2 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly DNA:insertion,deletion mutations:cds: DNA:deletion, duplication, frameshift, transition mutations:cds,intron: |
ClinVar RGD |
PMID:25741868 PMID:18617531 PMID:9771712 PMID:22847929 |
RGD:11561948, RGD:11561954, RGD:11561949 |
NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522
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G |
Zic5 |
Zic family member 5 |
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ISO |
ClinVar Annotator: match by term: Lobar holoprosencephaly |
ClinVar |
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NCBI chr15:99,558,285...99,567,023
Ensembl chr15:99,560,323...99,567,035
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G |
Zrsr2 |
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly sequence |
ClinVar |
PMID:25679214 PMID:25741868 PMID:31680349 |
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NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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G |
Cdon |
cell adhesion associated, oncogene regulated |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
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G |
Fgf8 |
fibroblast growth factor 8 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 1 |
ClinVar |
PMID:18596921 PMID:21045958 PMID:28492532 |
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NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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G |
Gas1 |
growth arrest-specific 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 1 |
ClinVar |
PMID:20583177 PMID:21842183 |
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NCBI chr17:4,482,168...4,485,153
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Zic2 |
Zic family member 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 1 |
ClinVar |
PMID:22859937 |
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NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Acrv1 |
acrosomal vesicle protein 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959
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G |
Ccdc15 |
coiled-coil domain containing 15 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919
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G |
Cdon |
cell adhesion associated, oncogene regulated |
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ISO ISS |
OMIM:614226 ClinVar Annotator: match by term: Holoprosencephaly 11 |
OMIM MouseDO ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301702 PMID:21802063 PMID:25741868 PMID:26529631 PMID:26728615 PMID:28492532 PMID:31502381 More...
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NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
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G |
Chek1 |
checkpoint kinase 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
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G |
Ddx25 |
DEAD-box helicase 25 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764
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G |
Ei24 |
EI24, autophagy associated transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571
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G |
Esam |
endothelial cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215
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G |
Fam118b |
family with sequence similarity 118, member B |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270
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G |
Fez1 |
fasciculation and elongation protein zeta 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683
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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
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G |
Hepacam |
hepatic and glial cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
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G |
Hyls1 |
HYLS1, centriolar and ciliogenesis associated |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760
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G |
LOC103689958 |
olfactory receptor 49-like |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:65,911,907...65,913,255
Ensembl chr 1:65,912,105...65,913,079
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G |
Msantd2 |
Myb/SANT DNA binding domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476
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G |
Nrgn |
neurogranin |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
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G |
Olr1271 |
olfactory receptor 1271 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:39,127,409...39,131,889
Ensembl chr 8:39,127,352...39,131,900
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G |
Or10g9 |
olfactory receptor family 10 subfamily G member 9 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:40,352,436...40,353,371
Ensembl chr 8:40,352,436...40,353,371
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G |
Or10g9b |
olfactory receptor family 10 subfamily G member 9B |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:40,358,211...40,359,143
Ensembl chr 8:40,357,714...40,361,692
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G |
Or10s1 |
olfactory receptor family 10 subfamily S member 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:40,377,018...40,378,068
Ensembl chr 8:40,377,103...40,378,068
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G |
Or4d5 |
olfactory receptor family 4 subfamily D member 5 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:40,423,865...40,424,809
Ensembl chr 8:40,423,865...40,424,809
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G |
Or6x1 |
olfactory receptor family 6 subfamily X member 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:40,538,157...40,539,095
Ensembl chr 8:40,533,033...40,541,586
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G |
Or8a1b |
olfactory receptor family 8 subfamily A member 1B |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746
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G |
Or8b12 |
olfactory receptor family 8 subfamily B member 12 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315
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G |
Or8b3 |
olfactory receptor family 8 subfamily B member 3 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936
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G |
Or8b4 |
olfactory receptor family 8 subfamily B member 4 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,720,158...37,721,087
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G |
Or8b8 |
olfactory receptor family 8 subfamily B member 8 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547
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G |
Or8d4 |
olfactory receptor family 8 subfamily D member 4 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:40,469,997...40,470,932
Ensembl chr 8:40,469,997...40,470,932
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G |
Or8g17d |
olfactory receptor family 8 subfamily G member 17D |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:39,180,564...39,181,499
Ensembl chr 8:39,180,079...39,184,720
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G |
Or8g30 |
olfactory receptor family 8 subfamily G member 30 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:39,613,311...39,614,246
Ensembl chr 8:39,613,126...39,618,924
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G |
Panx3 |
pannexin 3 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640
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G |
Pate1 |
prostate and testis expressed 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:34,048,410...34,050,867
Ensembl chr 8:34,048,617...34,050,848
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G |
Pate2 |
prostate and testis expressed 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517
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G |
Pate3 |
prostate and testis expressed 3 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175
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G |
Pate4 |
prostate and testis expressed 4 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552 Ensembl chr 8:33,988,812...33,991,552
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G |
Pknox2 |
PBX/knotted 1 homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940
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G |
Pus3 |
pseudouridine synthase 3 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
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G |
Robo3 |
roundabout guidance receptor 3 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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G |
Robo4 |
roundabout guidance receptor 4 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519
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G |
Rpusd4 |
RNA pseudouridine synthase D4 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873
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G |
Scn3b |
sodium voltage-gated channel beta subunit 3 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
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G |
Siae |
sialic acid acetylesterase |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996
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G |
Slc37a2 |
solute carrier family 37 member 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482
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G |
Spa17 |
sperm autoantigenic protein 17 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639
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G |
Srpra |
SRP receptor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
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G |
Stt3a |
STT3 oligosaccharyltransferase complex catalytic subunit A |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
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G |
Tbrg1 |
transforming growth factor beta regulator 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930
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G |
Tirap |
TIR domain containing adaptor protein |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
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G |
Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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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 |
Tmem225 |
transmembrane protein 225 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:40,497,483...40,500,041
Ensembl chr 8:40,497,483...40,500,041
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G |
Vsig2 |
V-set and immunoglobulin domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150
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G |
Vwa5a |
von Willebrand factor A domain containing 5A |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,815,176...38,848,674
Ensembl chr 8:38,815,210...38,839,112
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G |
Zfp202 |
zinc finger protein 202 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:40,542,665...40,567,397
Ensembl chr 8:40,542,701...40,563,118
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G |
Cnot1 |
CCR4-NOT transcription complex, subunit 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28525974 PMID:31006510 PMID:31006513 PMID:32553196 More...
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NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574
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G |
Sh2d1a |
SH2 domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:121,373,693...121,401,923
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G |
Stag2 |
STAG2 cohesin complex component |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked |
OMIM ClinVar |
PMID:25741868 PMID:28296084 PMID:28492532 PMID:31334757 |
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NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
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G |
Plch1 |
phospholipase C, eta 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 14 |
OMIM ClinVar |
PMID:25741868 PMID:33820834 |
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NCBI chr 2:148,148,908...148,363,616
Ensembl chr 2:148,148,921...148,364,097
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 2 |
ClinVar |
PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Abcg8 |
ATP binding cassette subfamily G member 8 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 2 |
ClinVar |
PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 |
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NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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G |
Camkmt |
calmodulin-lysine N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 2 |
ClinVar |
PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 |
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NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 2 |
ClinVar |
PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 |
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NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336
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G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 2 |
ClinVar |
PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 |
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NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 2 |
ClinVar |
PMID:25741868 PMID:34008892 |
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NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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G |
Ppm1b |
protein phosphatase, Mg2+/Mn2+ dependent, 1B |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 2 |
ClinVar |
PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 |
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NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974
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G |
Prepl |
prolyl endopeptidase-like |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 2 |
ClinVar |
PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 |
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NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
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G |
Six2 |
SIX homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 2 |
ClinVar |
PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 PMID:32796691 |
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NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193
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G |
Six3 |
SIX homeobox 3 |
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ISO ISS |
ClinVar Annotator: match by term: Holoprosencephaly 2 OMIM:157170 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:10369266 PMID:10923031 PMID:11039582 PMID:14711609 PMID:15221788 PMID:15523651 PMID:17001667 PMID:17584896 PMID:18791198 PMID:18989625 PMID:19346217 PMID:19353631 PMID:19431187 PMID:20157829 PMID:20531442 PMID:21940735 PMID:25741868 PMID:26080100 PMID:26467025 PMID:28492532 PMID:32796691 PMID:34008892 PMID:35951005 More...
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NCBI chr 6:9,039,017...9,043,336
Ensembl chr 6:9,036,434...9,053,301
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G |
Slc3a1 |
solute carrier family 3 member 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 2 |
ClinVar |
PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 |
|
NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
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G |
Cnpy1 |
canopy FGF signaling regulator 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:23370340 PMID:24095820 PMID:28492532 PMID:29992659 PMID:31334757 More...
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NCBI chr 4:7,182,311...7,191,408
Ensembl chr 4:7,136,533...7,189,761
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G |
Dnajb6 |
DnaJ heat shock protein family (Hsp40) member B6 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:22354285 PMID:22683912 PMID:23370340 PMID:24095820 PMID:28284480 PMID:28492532 PMID:28588853 PMID:29983323 PMID:29992659 PMID:31334757 PMID:32677110 More...
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NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659
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G |
En2 |
engrailed homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:23370340 PMID:24095820 PMID:28492532 PMID:29992659 PMID:31334757 More...
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NCBI chr 4:7,221,096...7,226,943
Ensembl chr 4:7,221,096...7,226,943
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G |
Htr5a |
5-hydroxytryptamine receptor 5A |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:23370340 PMID:24095820 PMID:28492532 PMID:29992659 PMID:31334757 More...
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NCBI chr 4:7,444,968...7,454,651
Ensembl chr 4:7,444,968...7,454,651
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G |
Insig1 |
insulin induced gene 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:23370340 PMID:24095820 PMID:28492532 PMID:29992659 PMID:31334757 More...
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NCBI chr 4:7,315,494...7,323,972
Ensembl chr 4:7,315,495...7,323,952
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G |
Lmbr1 |
limb development membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:22354285 PMID:22683912 PMID:23370340 PMID:24095820 PMID:25741868 PMID:28284480 PMID:28492532 PMID:28588853 PMID:29983323 PMID:29992659 PMID:31334757 PMID:32677110 More...
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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G |
Mnx1 |
motor neuron and pancreas homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:22354285 PMID:22683912 PMID:23370340 PMID:24095820 PMID:28284480 PMID:28492532 PMID:28588853 PMID:29983323 PMID:29992659 PMID:31334757 PMID:32677110 More...
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NCBI chr 4:5,866,506...5,871,465
Ensembl chr 4:5,866,506...5,871,465
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G |
Ncapg2 |
non-SMC condensin II complex, subunit G2 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:23370340 PMID:24095820 PMID:28492532 PMID:29992659 PMID:31334757 More...
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NCBI chr 6:137,342,449...137,418,083
Ensembl chr 6:137,342,943...137,415,159
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G |
Nom1 |
nucleolar protein with MIF4G domain 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:22354285 PMID:22683912 PMID:23370340 PMID:24095820 PMID:28284480 PMID:28492532 PMID:28588853 PMID:29983323 PMID:29992659 PMID:31334757 PMID:32677110 More...
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NCBI chr 4:5,891,220...5,910,741
Ensembl chr 4:5,892,909...5,909,709
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G |
Paxip1 |
PAX interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:23370340 PMID:24095820 PMID:28492532 PMID:29992659 PMID:31334757 More...
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NCBI chr 4:7,525,132...7,576,659
Ensembl chr 4:7,525,004...7,576,548
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G |
Ptprn2 |
protein tyrosine phosphatase, receptor type N2 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:23370340 PMID:24095820 PMID:28492532 PMID:29992659 PMID:31334757 More...
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NCBI chr 6:137,439,572...138,191,575
Ensembl chr 6:137,439,540...138,191,575
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G |
Rbm33 |
RNA binding motif protein 33 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:23370340 PMID:24095820 PMID:28492532 PMID:29992659 PMID:31334757 More...
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NCBI chr 4:6,980,807...7,088,334
Ensembl chr 4:6,983,970...7,089,918
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G |
Rnf32 |
ring finger protein 32 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:22354285 PMID:22683912 PMID:23370340 PMID:24095820 PMID:28284480 PMID:28492532 PMID:28588853 PMID:29983323 PMID:29992659 PMID:31334757 PMID:32677110 More...
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NCBI chr 4:6,144,749...6,209,320
Ensembl chr 4:6,149,841...6,209,257
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO ISS |
ClinVar Annotator: match by term: Holoprosencephaly 3 OMIM:142945 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8896572 PMID:9302262 PMID:9600232 PMID:10479723 PMID:10556296 PMID:10631160 PMID:10749657 PMID:11471164 PMID:11479728 PMID:11857543 PMID:11919111 PMID:12503095 PMID:12567406 PMID:12709790 PMID:15107988 PMID:15292211 PMID:15942944 PMID:15942952 PMID:16199547 PMID:16254195 PMID:16282375 PMID:16678778 PMID:18655123 PMID:19057928 PMID:19478089 PMID:19533790 PMID:19561609 PMID:19603532 PMID:19920144 PMID:20104608 PMID:20157829 PMID:20425842 PMID:21416594 PMID:21940735 PMID:21976454 PMID:22354285 PMID:22683912 PMID:22791840 PMID:22859937 PMID:22897141 PMID:23370340 PMID:23476075 PMID:24033266 PMID:24095820 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28284480 PMID:28492532 PMID:28518168 PMID:28588853 PMID:29205322 PMID:29983323 PMID:29992659 PMID:31334757 PMID:32022405 PMID:32440000 PMID:32461654 PMID:32677110 PMID:32939873 More...
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NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Ube3c |
ubiquitin protein ligase E3C |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 3 |
ClinVar |
PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 PMID:21976454 PMID:22354285 PMID:22683912 PMID:23370340 PMID:24095820 PMID:28284480 PMID:28492532 PMID:28588853 PMID:29983323 PMID:29992659 PMID:31334757 PMID:32677110 More...
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NCBI chr 4:5,648,932...5,749,922
Ensembl chr 4:5,648,690...5,750,011
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G |
Dlgap1 |
DLG associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 4 |
ClinVar |
PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532 More...
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NCBI chr 9:109,857,500...110,726,817
Ensembl chr 9:110,167,448...110,726,817
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G |
Emilin2 |
elastin microfibril interfacer 2 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 4 |
ClinVar |
PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532 More...
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NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352
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G |
Lpin2 |
lipin 2 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 4 |
ClinVar |
PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532 More...
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NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
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G |
Myl12a |
myosin light chain 12A |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 4 |
ClinVar |
PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532 More...
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NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580
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G |
Myl12b |
myosin light chain 12B |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 4 |
ClinVar |
PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532 More...
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NCBI chr 9:110,873,855...110,888,187
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G |
Myom1 |
myomesin 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 4 |
ClinVar |
PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532 More...
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NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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G |
Tgif1 |
TGFB-induced factor homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Holoprosencephaly 4 |
OMIM CTD ClinVar |
PMID:10835638 PMID:11810641 PMID:12522553 PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:21940735 PMID:22125506 PMID:22859937 PMID:24123366 PMID:25741868 PMID:28492532 PMID:30157302 More...
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NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
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G |
Abcc4 |
ATP binding cassette subfamily C member 4 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
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G |
Bivm |
basic, immunoglobulin-like variable motif containing |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024
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G |
Ccdc168 |
coiled-coil domain containing 168 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936
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G |
Cldn10 |
claudin 10 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526
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G |
Clybl |
citramalyl-CoA lyase |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695
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G |
Dct |
dopachrome tautomerase |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
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G |
Dnajc3 |
DnaJ heat shock protein family (Hsp40) member C3 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:96,025,605...96,068,585
Ensembl chr15:96,025,624...96,065,181
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G |
Dock9 |
dedicator of cytokinesis 9 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:98,611,518...98,883,306
Ensembl chr15:98,618,084...98,883,153
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G |
Dzip1 |
DAZ interacting zinc finger protein 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066
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G |
Ercc5 |
ERCC excision repair 5, endonuclease |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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G |
Farp1 |
FERM, ARH/RhoGEF and pleckstrin domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:98,124,304...98,363,299
Ensembl chr15:98,182,329...98,363,299
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G |
Fgf14 |
fibroblast growth factor 14 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
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G |
Ggact |
gamma-glutamylamine cyclotransferase |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455
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G |
Gpc5 |
glypican 5 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282
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G |
Gpc6 |
glypican 6 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006
|
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G |
Gpr18 |
G protein-coupled receptor 18 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:98,997,427...99,001,177
Ensembl chr15:98,997,259...99,001,470
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G |
Gpr180 |
G protein-coupled receptor 180 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:95,195,782...95,224,955
Ensembl chr15:95,199,777...95,228,373
|
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G |
Gpr183 |
G protein-coupled receptor 183 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559
|
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G |
Hs6st3 |
heparan sulfate 6-O-sulfotransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:96,281,502...97,000,804
Ensembl chr15:96,281,646...97,000,462
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G |
Ipo5 |
importin 5 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:97,990,755...98,041,074
Ensembl chr15:98,005,299...98,041,126
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G |
Itgbl1 |
integrin subunit beta like 1 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
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G |
Mbnl2 |
muscleblind-like splicing regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr15:97,385,278...97,542,924
Ensembl chr15:97,385,244...97,542,937
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G |
Mettl21c |
methyltransferase 21C, AARS1 lysine |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
|
NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112
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|
G |
Mir17 |
microRNA 17 |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir18a |
microRNA 18a |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:92,180,765...92,180,860
Ensembl chr15:92,180,765...92,180,860
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Mir19a |
microRNA 19a |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993
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Mir19b1 |
microRNA 19b-1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:92,181,214...92,181,300
Ensembl chr15:92,181,214...92,181,300
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Mir20a |
microRNA 20a |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168
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Mir92a1 |
microRNA 92a-1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:92,181,336...92,181,413
Ensembl chr15:92,181,336...92,181,413
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Nalcn |
sodium leak channel, non-selective |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
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Oxgr1 |
oxoglutarate receptor 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:97,145,947...97,146,960
Ensembl chr15:97,144,293...97,166,612
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Pcca |
propionyl-CoA carboxylase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
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Poglut2 |
protein O-glucosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532
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Rap2a |
RAP2A, member of RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:97,596,848...97,597,338
Ensembl chr15:97,596,020...97,624,138
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Slc10a2 |
solute carrier family 10 member 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:28492532 |
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NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
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Slc15a1 |
solute carrier family 15 member 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:98,537,641...98,582,544
Ensembl chr15:98,537,641...98,582,545
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Sox21 |
SRY-box transcription factor 21 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:95,292,429...95,296,024
Ensembl chr15:95,292,265...95,296,091
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Stk24 |
serine/threonine kinase 24 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:98,363,707...98,458,940
Ensembl chr15:98,365,791...98,460,553
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Tex30 |
testis expressed 30 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:46,243,416...46,252,273
Ensembl chr 9:46,242,748...46,252,249
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Tgds |
TDP-glucose 4,6-dehydratase |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:95,175,064...95,195,555
Ensembl chr15:95,174,608...95,195,554
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Tm9sf2 |
transmembrane 9 superfamily member 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
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Tmtc4 |
transmembrane O-mannosyltransferase targeting cadherins 4 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
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Tpp2 |
tripeptidyl peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
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Ubac2 |
UBA domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787
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Uggt2 |
UDP-glucose glycoprotein glucosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:96,074,557...96,239,365
Ensembl chr15:96,074,564...96,237,806
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Zic2 |
Zic family member 2 |
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ISO ISS |
ClinVar Annotator: match by term: Holoprosencephaly 5 | ClinVar Annotator: match by term: ZIC2-related condition OMIM:609637 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:9771712 PMID:11285244 PMID:15590697 PMID:17274816 PMID:17576681 PMID:19177455 PMID:19955556 PMID:21638761 PMID:21940735 PMID:21990207 PMID:22847929 PMID:25741868 PMID:28492532 PMID:29770992 PMID:29992659 PMID:32022405 More...
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NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522
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Zic5 |
Zic family member 5 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 5 |
ClinVar |
PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 |
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NCBI chr15:99,558,285...99,567,023
Ensembl chr15:99,560,323...99,567,035
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Disp1 |
dispatched RND transporter family member 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 7 |
ClinVar |
PMID:25741868 |
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NCBI chr13:94,720,928...94,866,695
Ensembl chr13:94,720,928...94,866,702
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Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Holoprosencephaly 7 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1347096 PMID:8302318 PMID:9463336 PMID:11941477 PMID:12204003 PMID:12925203 PMID:15712338 PMID:16231297 PMID:16301862 PMID:17001668 PMID:17096318 PMID:17985375 PMID:18502968 PMID:19346217 PMID:20485063 PMID:21188540 PMID:22221699 PMID:22313357 PMID:22675565 PMID:22703879 PMID:22820256 PMID:22995991 PMID:23313819 PMID:23334667 PMID:23761049 PMID:23951062 PMID:24033266 PMID:24055113 PMID:24204797 PMID:24368541 PMID:24728327 PMID:24942795 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26489027 PMID:26544948 PMID:26559152 PMID:26893459 PMID:27153395 PMID:27535533 PMID:27561271 PMID:27930734 PMID:28492532 PMID:28627087 PMID:28733979 PMID:28873162 PMID:29212164 PMID:29498494 PMID:29575684 PMID:29992659 PMID:30093976 PMID:30262796 PMID:31180159 PMID:31655866 PMID:32074614 PMID:32321774 PMID:32409749 PMID:32906206 PMID:33209614 PMID:33466296 PMID:33729574 PMID:34831015 More...
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: GLI2-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 PMID:15994174 PMID:16199547 PMID:16327884 PMID:17096318 PMID:17569090 PMID:17576681 PMID:19223936 PMID:20685056 PMID:20685856 PMID:21204792 PMID:21416594 PMID:22967285 PMID:22978696 PMID:23408573 PMID:24744436 PMID:25741868 PMID:26334177 PMID:26893459 PMID:28166811 PMID:28191889 PMID:28492532 PMID:29095814 PMID:29165578 PMID:29876959 PMID:30548673 PMID:33729509 PMID:34198905 PMID:34906515 More...
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate |
OMIM ClinVar |
PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 PMID:16764984 PMID:19504604 PMID:20536592 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24204987 PMID:24888332 PMID:25064402 PMID:25326635 PMID:25741868 PMID:26931467 PMID:28492532 PMID:31474318 PMID:31748124 PMID:33983622 More...
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NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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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 PMID:25741868 PMID:26174511 PMID:28492532 PMID:36474027 More...
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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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Dcx |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked |
ClinVar |
PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 PMID:11331616 PMID:11468322 PMID:12552055 PMID:18414213 PMID:18685874 PMID:22857951 PMID:23365099 PMID:25741868 PMID:28492532 PMID:35213059 More...
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NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Supt16h |
SPT16 homolog, facilitates chromatin remodeling subunit |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum |
OMIM ClinVar |
PMID:25741868 PMID:31924697 PMID:36255738 |
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NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
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Lnp1 |
leukemia NUP98 fusion partner 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum |
ClinVar |
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NCBI chr11:43,660,873...43,678,727
Ensembl chr11:43,654,705...43,678,721
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Lnpk |
lunapark, ER junction formation factor |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum |
OMIM ClinVar |
PMID:25741868 PMID:30032983 |
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NCBI chr 3:59,418,872...59,487,029
Ensembl chr 3:59,424,286...59,486,518
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Hectd4 |
HECT domain E3 ubiquitin protein ligase 4 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum |
OMIM ClinVar |
PMID:25741868 PMID:36401616 |
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NCBI chr12:35,182,165...35,330,935
Ensembl chr12:35,182,154...35,330,987
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Dcc |
DCC netrin 1 receptor |
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ISO |
ClinVar Annotator: match by term: Partial agenesis of the corpus callosum |
ClinVar |
PMID:25741868 |
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NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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Shh |
sonic hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Partial agenesis of the corpus callosum |
ClinVar |
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NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Taf8 |
TATA-box binding protein associated factor 8 |
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ISO |
ClinVar Annotator: match by term: Partial agenesis of corpus callosum |
ClinVar |
PMID:25741868 PMID:29648665 PMID:35759269 |
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NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717
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L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Corpus callosum, partial agenesis of, X-linked CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7562969 PMID:7762552 PMID:7920659 PMID:8929944 PMID:9300653 PMID:10469653 PMID:10797421 PMID:11772994 PMID:15368500 PMID:15555929 PMID:16650080 PMID:19617634 PMID:19846429 PMID:22973895 PMID:24155914 PMID:25666757 PMID:25741868 PMID:26467025 PMID:26891472 PMID:28492532 PMID:29706646 PMID:31069529 PMID:31474318 More...
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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Slc1a4 |
solute carrier family 1 member 4 |
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ISO ISS |
OMIM:616657 ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
OMIM MouseDO ClinVar |
PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 PMID:27193218 PMID:27848944 PMID:28327206 PMID:28492532 PMID:29989513 PMID:30125339 PMID:32404165 PMID:34174466 More...
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NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418
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Acrbp |
acrosin binding protein |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
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Acsm4 |
acyl-CoA synthetase medium-chain family member 4 |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341
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G |
Aicda |
activation-induced cytidine deaminase |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Apobec1 |
apolipoprotein B mRNA editing enzyme catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
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G |
Atn1 |
atrophin 1 |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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G |
C1rl |
complement C1r subcomponent like |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
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C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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G |
C3ar1 |
complement C3a receptor 1 |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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Cd163 |
CD163 molecule |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Cd27 |
CD27 molecule |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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G |
Cd4 |
Cd4 molecule |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,668,878...157,695,366
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G |
Cdca3 |
cell division cycle associated 3 |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
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G |
Chd4 |
chromodomain helicase DNA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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G |
Clec4a1 |
C-type lectin domain family 4, member A1 |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008
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G |
Clec4a3 |
C-type lectin domain family 4, member A3 |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817
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G |
Clec4b2 |
C-type lectin domain family 4, member B2 |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240
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G |
Clec4d |
C-type lectin domain family 4, member D |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848
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G |
Clec4e |
C-type lectin domain family 4, member E |
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ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
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G |
Clec6a-ps1 |
C-type lectin domain family 6, member A, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605 Ensembl chr 4:156,539,408...156,558,605
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G |
Clstn3 |
calsyntenin 3 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
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G |
Cops7a |
COP9 signalosome subunit 7A |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
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G |
Dppa3 |
developmental pluripotency-associated 3 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861 Ensembl chr 5:155,815,296...155,854,861
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G |
Emg1 |
EMG1 N1-specific pseudouridine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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G |
Eno2 |
enolase 2 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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G |
Fam90a1a |
family with sequence similarity 90 member A1A |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241
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G |
Foxj2 |
forkhead box J2 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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G |
Gdf3 |
growth differentiation factor 3 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
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G |
Gnb3 |
G protein subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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G |
Gpr162 |
G protein-coupled receptor 162 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,662,200...157,668,341
Ensembl chr 4:157,662,200...157,668,121
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G |
Grcc10 |
gene rich cluster, C10 gene |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21937992 PMID:23453665 PMID:23453666 PMID:23633300 PMID:24798461 PMID:25326635 PMID:25558065 PMID:25741868 PMID:28097321 PMID:28454995 PMID:28492532 PMID:28600779 PMID:29269699 PMID:29383837 More...
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NCBI chr 4:157,551,276...157,552,924
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G |
Iffo1 |
intermediate filament family orphan 1 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302
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G |
Ing4 |
inhibitor of growth family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265
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G |
Lag3 |
lymphocyte activating 3 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404
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G |
Lpar5 |
lysophosphatidic acid receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,870,493...157,883,979
Ensembl chr 4:157,881,796...157,882,950
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G |
Lpcat3 |
lysophosphatidylcholine acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880
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G |
Lrrc23 |
leucine rich repeat containing 23 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860
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G |
Ltbr |
lymphotoxin beta receptor |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
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G |
Mfap5 |
microfibril associated protein 5 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
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G |
Mir141 |
microRNA 141 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
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G |
Mir200c |
microRNA 200c |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,523,679...157,523,747
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G |
Mlf2 |
myeloid leukemia factor 2 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317
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G |
Mrpl51 |
mitochondrial ribosomal protein L51 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414
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G |
Nanog |
Nanog homeobox |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
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G |
Ncapd2 |
non-SMC condensin I complex, subunit D2 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
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G |
Necap1 |
NECAP endocytosis associated 1 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068
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G |
Nop2 |
NOP2 nucleolar protein |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459
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G |
P3h3 |
prolyl 3-hydroxylase 3 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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G |
Phb2 |
prohibitin 2 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272
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G |
Pianp |
PILR alpha associated neural protein |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842
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G |
Ptms |
parathymosin |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009
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G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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G |
Rimklb |
ribosomal modification protein rimK-like family member B |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711
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G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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G |
Slc2a3 |
solute carrier family 2 member 3 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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G |
Spsb2 |
splA/ryanodine receptor domain and SOCS box containing 2 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:157,613,401...157,615,284
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G |
Tapbpl |
TAP binding protein-like |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:158,021,454...158,028,905
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tpi1 |
triosephosphate isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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G |
Usp5 |
ubiquitin specific peptidase 5 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,619,663...157,634,681
Ensembl chr 4:157,619,643...157,634,711
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G |
Vamp1 |
vesicle-associated membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
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G |
Zfp384 |
zinc finger protein 384 |
|
ISO |
ClinVar Annotator: match by term: Temtamy syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766
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G |
Ark2c |
arkadia C-terminal like ring finger ubiquitin ligase 2C |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:70,984,566...71,100,836
Ensembl chr18:70,989,731...71,100,836
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G |
Ark2n |
arkadia (RNF111) N-terminal like PKA signaling regulator 2N |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:71,155,956...71,243,655
Ensembl chr18:71,157,700...71,243,482
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G |
Atp5f1a |
ATP synthase F1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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G |
Epg5 |
ectopic P-granules 5 autophagy tethering factor |
|
ISO |
ClinVar Annotator: match by term: EPG5-related condition | ClinVar Annotator: match by term: Vici syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3344762 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23222957 PMID:23674064 PMID:24033266 PMID:25331754 PMID:25640679 PMID:25741868 PMID:26854214 PMID:26917586 PMID:27343256 PMID:27577878 PMID:28168853 PMID:28492532 PMID:28615637 PMID:28939701 PMID:29130391 PMID:29159459 PMID:31130284 PMID:31184778 PMID:31625567 PMID:31981491 PMID:32313153 PMID:32558422 PMID:33303739 PMID:33365035 PMID:34645488 More...
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NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
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G |
Haus1 |
HAUS augmin-like complex, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:71,275,417...71,286,626
Ensembl chr18:71,273,537...71,286,660
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G |
Hdhd2 |
haloacid dehalogenase-like hydrolase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:70,488,315...70,526,471
Ensembl chr18:70,474,926...70,526,470
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G |
Ier3ip1-ps1 |
immediate early response 3 interacting protein 1, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316
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G |
Katnal2 |
katanin catalytic subunit A1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:70,531,759...70,607,886
Ensembl chr18:70,531,754...70,608,082
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G |
Loxhd1 |
lipoxygenase homology PLAT domains 1 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983
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G |
Pias2 |
protein inhibitor of activated STAT, 2 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:70,608,034...70,714,295
Ensembl chr18:70,607,665...70,710,033
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G |
Pstpip2 |
proline-serine-threonine phosphatase-interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709
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G |
Setbp1 |
SET binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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G |
Siglec15 |
sialic acid binding Ig-like lectin 15 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:71,506,416...71,521,894
Ensembl chr18:71,505,399...71,521,881
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G |
Skor2 |
SKI family transcriptional corepressor 2 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:70,404,431...70,446,330
Ensembl chr18:70,404,489...70,440,342
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G |
Slc14a1 |
solute carrier family 14 member 1 (Kidd blood group) |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146
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G |
Slc14a2 |
solute carrier family 14 member 2 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968
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G |
Smad2 |
SMAD family member 2 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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G |
St8sia5 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Vici syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:70,736,395...70,802,537
Ensembl chr18:70,736,602...70,797,789
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G |
Gpkow |
G patch domain and KOW motifs |
|
ISO |
ClinVar Annotator: match by term: Holoprosencephaly with fetal akinesia/hypokinesia sequence |
ClinVar |
|
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NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
|
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