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ONTOLOGY REPORT - ANNOTATIONS


Term:Nervous System Malformations
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Accession:DOID:9006534 term browser browse the term
Definition:Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
Synonyms:exact_synonym: Congenital Anomalies, Nervous System;   Cranioschises;   Cranioschisis;   Nervous System Abnormalities;   Nervous System Abnormality;   Nervous System Anomalies;   Nervous System Anomaly;   Nervous System Congenital Abnormalities;   Nervous System Congenital Malformations;   Nervous System Malformation
 primary_id: MESH:D009421;   RDO:0000499
For additional species annotation, visit the Alliance of Genome Resources.


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Nervous System Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:11554173
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:11554173
G Crbn cereblon JBrowse link 4 138,864,910 138,885,786 RGD:11554173
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:11554173
G Hoxa1 homeobox A1 JBrowse link 4 82,124,358 82,127,182 RGD:11554173
G Hoxb1 homeo box B1 JBrowse link 10 84,214,358 84,215,812 RGD:11554173
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:11554173
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:1601499
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:11554173
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:1358410
G Spred1 sprouty-related, EVH1 domain containing 1 JBrowse link 3 108,795,337 108,861,650 RGD:11554173
G Tp73 tumor protein p73 JBrowse link 5 171,355,876 171,415,354 RGD:11554173
Abnormal Cortical Gyration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Mllt1 MLLT1, super elongation complex subunit JBrowse link 9 10,110,389 10,155,305 RGD:8554872
acrocallosal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Foxg1 forkhead box G1 JBrowse link 6 69,971,227 69,974,037 RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:7240710
RGD:8554872
RGD:11068757
RGD:11553832
RGD:11554173
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:8554872
G Ticrr TOPBP1-interacting checkpoint and replication regulator JBrowse link 1 141,391,738 141,433,615 RGD:8554872
Agenesis of Corpus Callosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:8554872
RGD:11554173
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:11554173
agenesis of the corpus callosum with peripheral neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emc4 ER membrane protein complex subunit 4 JBrowse link 3 103,852,139 103,857,172 RGD:8554872
G Nop10 NOP10 ribonucleoprotein JBrowse link 3 103,747,654 103,748,739 RGD:8554872
G Slc12a6 solute carrier family 12, member 6 JBrowse link 3 103,752,213 103,852,686 RGD:1580594
RGD:8554872
RGD:7240710
agnathia-otocephaly complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:13592920
G Prrx1 paired related homeobox 1 JBrowse link 13 81,147,038 81,215,559 RGD:7240710
RGD:8554872
RGD:11554173
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:13592920
Aicardi-Goutieres syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase, RNA-specific JBrowse link 2 189,045,551 189,085,448 RGD:11554173
RGD:8554872
RGD:11069491
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:11554173
G Kat5 lysine acetyltransferase 5 JBrowse link 1 220,967,795 220,974,596 RGD:8554872
G Rnaseh2a ribonuclease H2, subunit A JBrowse link 19 26,074,980 26,084,780 RGD:8554872
RGD:13592920
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
RGD:11554173
G Rnaseh2c ribonuclease H2, subunit C JBrowse link 1 220,966,626 220,967,717 RGD:8554872
RGD:13592920
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 3 153,210,829 153,250,705 RGD:11554173
RGD:8554872
G Tldc2 TBC/LysM-associated domain containing 2 JBrowse link 3 153,195,295 153,208,118 RGD:8554872
G Trex1 three prime repair exonuclease 1 JBrowse link 8 117,796,127 117,797,427 RGD:8554872
RGD:11554173
G Usp18 ubiquitin specific peptidase 18 JBrowse link 4 153,812,312 153,834,374 RGD:11554173
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trex1 three prime repair exonuclease 1 JBrowse link 8 117,796,127 117,797,427 RGD:8554872
RGD:7240710
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
RGD:7240710
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh2c ribonuclease H2, subunit C JBrowse link 1 220,966,626 220,967,717 RGD:7240710
RGD:8554872
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh2a ribonuclease H2, subunit A JBrowse link 19 26,074,980 26,084,780 RGD:7240710
RGD:8554872
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 3 153,210,829 153,250,705 RGD:7240710
RGD:8554872
RGD:11554173
G Tldc2 TBC/LysM-associated domain containing 2 JBrowse link 3 153,195,295 153,208,118 RGD:8554872
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase, RNA-specific JBrowse link 2 189,045,551 189,085,448 RGD:7240710
RGD:8554872
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:7240710
RGD:8554872
AL-RAQAD SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcps decapping enzyme, scavenger JBrowse link 8 36,321,992 36,374,665 RGD:7240710
RGD:8554872
Amish Lethal Microcephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a19 solute carrier family 25 member 19 JBrowse link 10 104,166,594 104,179,523 RGD:8554872
RGD:7240710
anencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx1 ALX homeobox 1 JBrowse link 7 44,751,865 44,771,458 RGD:734689
G Cecr2 CECR2, histone acetyl-lysine reader JBrowse link 4 153,217,521 153,327,153 RGD:13592920
G Efna5 ephrin A5 JBrowse link 9 110,054,002 110,329,878 RGD:13592920
G Lmo4 LIM domain only 4 JBrowse link 2 250,218,635 250,235,435 RGD:13592920
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:11098877
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11073359
G Trim36 tripartite motif-containing 36 JBrowse link 18 40,081,028 40,134,673 RGD:8554872
RGD:7240710
RGD:11554173
Arnold-Chiari Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erf Ets2 repressor factor JBrowse link 1 82,112,449 82,120,902 RGD:11554173
arteriovenous malformations of the brain term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:13592920
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Cacna1h calcium voltage-gated channel subunit alpha1 H JBrowse link 10 14,730,932 14,789,201 RGD:8554872
G Cdh2 cadherin 2 JBrowse link 18 8,146,971 8,366,037 RGD:8554872
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:8554872
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:11041171
RGD:8554872
RGD:13592920
RGD:11041564
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8551824
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
G Il17rd interleukin 17 receptor D JBrowse link 16 2,670,471 2,737,271 RGD:8554872
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7240710
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551824
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:11554173
RGD:7240710
RGD:8554872
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:8554872
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 JBrowse link 9 46,657,444 46,782,545 RGD:8554872
G Notch4 notch 4 JBrowse link 20 4,329,794 4,353,868 RGD:6480671
RGD:13592920
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Pitpnm3 PITPNM family member 3 JBrowse link 10 58,618,679 58,722,679 RGD:8554872
G Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 JBrowse link 5 7,622,668 7,941,715 RGD:8554872
G Sars seryl-tRNA synthetase JBrowse link 2 211,219,743 211,235,475 RGD:8554872
G Scube2 signal peptide, CUB domain and EGF like domain containing 2 JBrowse link 1 174,428,056 174,495,356 RGD:8554872
G Syn3 synapsin III JBrowse link 7 23,403,896 23,808,602 RGD:8554872
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link 7 23,543,125 23,594,170 RGD:8554872
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:1580567
G Zfyve16 zinc finger FYVE-type containing 16 JBrowse link 2 22,060,879 22,105,822 RGD:8554872
Asparagine Synthetase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asns asparagine synthetase (glutamine-hydrolyzing) JBrowse link 4 33,742,876 33,761,106 RGD:7240710
RGD:8554872
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa1 homeobox A1 JBrowse link 4 82,124,358 82,127,182 RGD:8554872
RGD:7240710
RGD:11553818
RGD:11554173
G Hoxa2 homeobox A2 JBrowse link 4 82,130,441 82,134,846 RGD:8554872
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
RGD:13592920
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:13592920
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thoc6 THO complex 6 JBrowse link 10 12,989,135 12,994,495 RGD:7240710
RGD:8554872
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Meis2 Meis homeobox 2 JBrowse link 3 107,560,172 107,762,732 RGD:8554872
RGD:7240710
RGD:11554173
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:7240710
RGD:8554872
Cavernous Malformations of CNS and Retina term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
Central Nervous System Vascular Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:1600689
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:1581204
Cerebellar Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Flg filaggrin JBrowse link 2 193,565,401 193,574,297 RGD:8554872
G Kctd3 potassium channel tetramerization domain containing 3 JBrowse link 13 107,433,588 107,471,843 RGD:8554872
G Ophn1 oligophrenin 1 JBrowse link X 68,185,865 68,579,518 RGD:8554872
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 14 60,657,730 60,687,950 RGD:8554872
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:8554872
cerebral cavernous malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:11554173
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8551824
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551824
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:1358458
RGD:11554173
RGD:8554872
RGD:1598379
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552573
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859036
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 RGD:8554872
cerebral cavernous malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
RGD:7240710
cerebral cavernous malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:7240710
RGD:8554872
G Nacad NAC alpha domain containing JBrowse link 14 86,860,607 86,868,605 RGD:8554872
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:7240710
RGD:8554872
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
RGD:7240710
G Stn1 STN1, CST complex subunit JBrowse link 1 267,281,786 267,315,714 RGD:11554173
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stn1 STN1, CST complex subunit JBrowse link 1 267,281,786 267,315,714 RGD:8554872
RGD:7240710
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:7240710
RGD:8554872
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
chromosome 1p32-p31 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfia nuclear factor I/A JBrowse link 5 116,421,895 116,750,381 RGD:11554173
RGD:7240710
RGD:8554872
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp6 acid phosphatase 6, lysophosphatidic JBrowse link 2 199,284,177 199,305,793 RGD:8554872
G Bcl9 BCL9, transcription coactivator JBrowse link 2 199,334,644 199,420,083 RGD:8554872
G Chd1l chromodomain helicase DNA binding protein 1-like JBrowse link 2 199,714,044 199,792,270 RGD:8554872
G Fmo5 flavin containing monooxygenase 5 JBrowse link 2 199,796,870 199,823,927 RGD:8554872
G Gja5 gap junction protein, alpha 5 JBrowse link 2 199,162,745 199,184,942 RGD:8554872
RGD:11554173
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:8554872
RGD:11554173
G Gpr89b G protein-coupled receptor 89B JBrowse link 2 198,999,945 199,038,702 RGD:8554872
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 JBrowse link 2 199,831,990 199,847,623 RGD:8554872
Chudley-Mccullough syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpsm2 G-protein signaling modulator 2 JBrowse link 2 211,480,120 211,528,096 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11062393
CK Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:7240710
RGD:8554872
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:7240710
RGD:8554872
RGD:12904735
RGD:12904728
RGD:11568595
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:11554173
Cohen Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir875 microRNA 875 JBrowse link 7 74,423,233 74,423,305 RGD:8554872
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:7240710
RGD:8554872
RGD:11554173
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:11554173
RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link 15 4,351,292 4,353,694 RGD:7240710
RGD:8554872
complex cortical dysplasia with other brain malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:11554173
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:11554173
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:12904052
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:11560525
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:9686432
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
G Kif1bp KIF1 binding protein JBrowse link 20 32,191,731 32,211,295 RGD:11554173
G Kif2a kinesin family member 2A JBrowse link 2 38,145,507 38,208,765 RGD:11554173
G Kif5c kinesin family member 5C JBrowse link 3 35,014,157 35,257,417 RGD:11554173
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:11554173
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:11554173
G Slc1a1 solute carrier family 1 member 1 JBrowse link 1 246,955,017 247,035,159 RGD:11554173
G Tbcd tubulin folding cofactor D JBrowse link 10 110,643,693 110,800,493 RGD:11554173
G Tubb2b tubulin, beta 2B class IIb JBrowse link 17 31,441,640 31,444,687 RGD:11554173
G Tubb3 tubulin, beta 3 class III JBrowse link 19 56,220,759 56,229,813 RGD:8554872
G Tubg1 tubulin, gamma 1 JBrowse link 10 89,030,865 89,037,455 RGD:11554173
G Wdr62 WD repeat domain 62 JBrowse link 1 90,995,545 91,034,592 RGD:11554173
complex cortical dysplasia with other brain malformations 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb3 tubulin, beta 3 class III JBrowse link 19 56,220,759 56,229,813 RGD:7240710
RGD:8554872
complex cortical dysplasia with other brain malformations 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif5c kinesin family member 5C JBrowse link 3 35,014,157 35,257,417 RGD:7240710
RGD:8554872
complex cortical dysplasia with other brain malformations 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif2a kinesin family member 2A JBrowse link 2 38,145,507 38,208,765 RGD:7240710
RGD:8554872
complex cortical dysplasia with other brain malformations 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubg1 tubulin, gamma 1 JBrowse link 10 89,030,865 89,037,455 RGD:7240710
RGD:8554872
complex cortical dysplasia with other brain malformations 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb2a tubulin, beta 2A class IIa JBrowse link 17 31,493,145 31,496,827 RGD:7240710
RGD:8554872
complex cortical dysplasia with other brain malformations 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb5 tubulin, beta 5 class I JBrowse link 20 3,422,448 3,426,420 RGD:7240710
RGD:8554872
complex cortical dysplasia with other brain malformations 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb2b tubulin, beta 2B class IIb JBrowse link 17 31,441,640 31,444,687 RGD:7240710
complex cortical dysplasia with other brain malformations 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnna2 catenin alpha 2 JBrowse link 4 107,880,611 109,042,724 RGD:8554872
RGD:7240710
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igbp1 immunoglobulin binding protein 1 JBrowse link X 70,322,764 70,345,005 RGD:7240710
RGD:8554872
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd4a FERM domain containing 4A JBrowse link 17 77,642,302 77,918,210 RGD:8554872
RGD:7240710
RGD:11554173
Corpus Callosum, Partial Agenesis of, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:7240710
RGD:8554872
Dandy Walker Cyst term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
G Tmem47 transmembrane protein 47 JBrowse link X 48,779,110 48,805,644 RGD:8554872
Dandy-Walker syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link 3 60,512,360 60,668,413 RGD:8554872
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
G RGD1307100 similar to RIKEN cDNA D630029K19 JBrowse link 2 123,555,742 123,766,675 RGD:8554872
G Tmem47 transmembrane protein 47 JBrowse link X 48,779,110 48,805,644 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
G Zfp423 zinc finger protein 423 JBrowse link 19 20,147,201 20,405,999 RGD:13592920
G Zic1 Zic family member 1 JBrowse link 8 98,733,715 98,738,960 RGD:1599905
RGD:13592920
G Zic4 Zic family member 4 JBrowse link 8 98,755,104 98,760,737 RGD:13592920
Donnai-Barrow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:8554872
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:7240710
RGD:8554872
Encephalocele term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11073359
G Wdr63 WD repeat domain 63 JBrowse link 2 251,912,432 251,970,699 RGD:8554872
Encephaloclastic Proliferative Vasculopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flvcr2 feline leukemia virus subgroup C cellular receptor family, member 2 JBrowse link 6 109,617,348 109,681,495 RGD:7240710
RGD:8554872
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbcd tubulin folding cofactor D JBrowse link 10 110,643,693 110,800,493 RGD:8554872
RGD:7240710
RGD:11554173
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11039024
Familial Schizencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:8554872
RGD:7240710
RGD:11554173
G Emx2 empty spiracles homeobox 2 JBrowse link 1 280,633,938 280,640,946 RGD:7240710
RGD:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:7240710
RGD:8554872
G Six3 SIX homeobox 3 JBrowse link 6 8,886,730 8,891,094 RGD:7240710
RGD:8554872
Feingold syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mycn MYCN proto-oncogene, bHLH transcription factor JBrowse link 6 38,222,554 38,228,419 RGD:8554872
RGD:11554173
Feingold Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mycn MYCN proto-oncogene, bHLH transcription factor JBrowse link 6 38,222,554 38,228,419 RGD:8554872
RGD:7240710
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:7240710
RGD:8554872
RGD:11576290
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11554173
G Gpr34 G protein-coupled receptor 34 JBrowse link X 10,022,986 10,043,504 RGD:8554872
G Gpr82 G protein-coupled receptor 82 JBrowse link X 9,992,832 10,001,036 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910952
RGD:12910948
RGD:11554173
G Med14 mediator complex subunit 14 JBrowse link X 10,964,035 11,082,403 RGD:8554872
G Mpc1l mitochondrial pyruvate carrier 1-like JBrowse link X 11,098,849 11,105,312 RGD:8554872
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:8554872
G RGD1565685 similar to RIKEN cDNA 1810030O07 JBrowse link X 11,082,668 11,105,588 RGD:8554872
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:8554872
Filippi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ckap2l cytoskeleton associated protein 2-like JBrowse link 3 121,796,221 121,822,352 RGD:8554872
RGD:7240710
Focal Cortical Dysplasia of Taylor term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068443
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547829
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:11554173
RGD:7240710
RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:7240710
RGD:8554872
RGD:11554173
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:8554872
RGD:7240710
RGD:11554173
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11537476
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:7240710
RGD:8554872
RGD:11537476
Galloway-Mowat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:11554173
G Osgep O-sialoglycoprotein endopeptidase JBrowse link 15 27,842,447 27,849,866 RGD:11554173
G Tp53rk TP53 regulating kinase JBrowse link 3 163,552,166 163,555,925 RGD:11554173
G Tprkb Tp53rk binding protein JBrowse link 4 117,589,527 117,604,481 RGD:11554173
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:8554872
RGD:11554173
G Zfp592 zinc finger protein 592 JBrowse link 1 142,833,999 142,870,997 RGD:8554872
RGD:11554173
Galloway-Mowat Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:7240710
Galloway-Mowat syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:8554872
RGD:7240710
RGD:13592920
Galloway-Mowat syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Osgep O-sialoglycoprotein endopeptidase JBrowse link 15 27,842,447 27,849,866 RGD:8554872
RGD:7240710
RGD:13592920
Galloway-Mowat syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53rk TP53 regulating kinase JBrowse link 3 163,552,166 163,555,925 RGD:8554872
RGD:7240710
RGD:13592920
Galloway-Mowat syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tprkb Tp53rk binding protein JBrowse link 4 117,589,527 117,604,481 RGD:8554872
RGD:7240710
RGD:13592920
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:7240710
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup107 nucleoporin 107 JBrowse link 7 60,781,724 60,825,225 RGD:7240710
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup133 nucleoporin 133 JBrowse link 19 56,681,965 56,731,404 RGD:7240710
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp148 zinc finger protein 148 JBrowse link 11 70,509,909 70,618,422 RGD:8554872
RGD:7240710
RGD:11554173
Growth Deficiency and Mental Retardation with Facial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2a lysine methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:7240710
RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
Growth Hormone Deficiency With Pituitary Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hesx1 HESX homeobox 1 JBrowse link 16 2,616,538 2,636,708 RGD:8554872
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smg9 SMG9 nonsense mediated mRNA decay factor JBrowse link 1 81,259,450 81,282,893 RGD:11554173
RGD:7240710
RGD:8554872
Hemimegalencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:11560525
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:8554872
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Rheb Ras homolog, mTORC1 binding JBrowse link 4 6,827,429 6,873,384 RGD:8554872
hereditary sensory and autonomic neuropathy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 JBrowse link 17 11,856,525 11,895,566 RGD:8554872
hereditary sensory and autonomic neuropathy type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 JBrowse link 17 11,856,525 11,895,566 RGD:7240710
RGD:8554872
hereditary sensory and autonomic neuropathy type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 JBrowse link 6 111,334,408 111,417,960 RGD:7240710
RGD:8554872
hereditary sensory and autonomic neuropathy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Rad52 RAD52 homolog, DNA repair protein JBrowse link 4 152,429,826 152,451,875 RGD:8554872
G Retreg1 reticulophagy regulator 1 JBrowse link 2 78,391,921 78,401,569 RGD:8554872
G Wnk1 WNK lysine deficient protein kinase 1 JBrowse link 4 152,452,211 152,578,469 RGD:8554872
hereditary sensory and autonomic neuropathy type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
RGD:11554173
G Retreg1 reticulophagy regulator 1 JBrowse link 2 78,391,921 78,401,569 RGD:8554872
RGD:11554173
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:11554173
RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wnk1 WNK lysine deficient protein kinase 1 JBrowse link 4 152,452,211 152,578,469 RGD:7240710
RGD:8554872
hereditary sensory and autonomic neuropathy type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Retreg1 reticulophagy regulator 1 JBrowse link 2 78,391,921 78,401,569 RGD:7240710
RGD:8554872
hereditary sensory and autonomic neuropathy type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:8554872
RGD:7240710
hereditary sensory and autonomic neuropathy type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:7240710
RGD:8554872
hereditary sensory and autonomic neuropathy type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn11a sodium voltage-gated channel alpha subunit 11 JBrowse link 8 128,450,793 128,527,510 RGD:7240710
RGD:8554872
hereditary sensory and autonomic neuropathy type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm12 PR/SET domain 12 JBrowse link 3 10,181,104 10,199,185 RGD:7240710
RGD:8554872
hereditary sensory neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cct4 chaperonin containing TCP1 subunit 4 JBrowse link 14 107,767,392 107,780,270 RGD:1299607
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:9588627
RGD:11554173
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:13592920
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:12911225
RGD:12911226
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:11554173
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:5684543
RGD:11554173
RGD:5684770
RGD:5684769
RGD:5684767
RGD:5684544
G Retreg1 reticulophagy regulator 1 JBrowse link 2 78,391,921 78,401,569 RGD:11554173
G Scn11a sodium voltage-gated channel alpha subunit 11 JBrowse link 8 128,450,793 128,527,510 RGD:13592920
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
G Wnk1 WNK lysine deficient protein kinase 1 JBrowse link 4 152,452,211 152,578,469 RGD:8554872
hereditary sensory neuropathy type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atl1 atlastin GTPase 1 JBrowse link 6 92,229,764 92,370,428 RGD:7240710
RGD:8554872
hereditary sensory neuropathy type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:7240710
RGD:8554872
hereditary sensory neuropathy type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atl3 atlastin GTPase 3 JBrowse link 1 222,746,023 222,788,439 RGD:7240710
RGD:8554872
hereditary sensory neuropathy type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:7240710
RGD:8554872
hereditary sensory neuropathy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insrr insulin receptor-related receptor JBrowse link 2 187,161,817 187,181,400 RGD:8554872
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:7240710
RGD:8554872
holoprosencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Boc BOC cell adhesion associated, oncogene regulated JBrowse link 11 61,084,216 61,159,220 RGD:8554872
G Cdon cell adhesion associated, oncogene regulated JBrowse link 8 36,625,757 36,712,091 RGD:8554872
G Creb1 cAMP responsive element binding protein 1 JBrowse link 9 71,229,753 71,298,994 RGD:12801437
G Disp1 dispatched RND transporter family member 1 JBrowse link 13 101,451,932 101,597,570 RGD:8554872
G Dll1 delta like canonical Notch ligand 1 JBrowse link 1 57,318,621 57,326,732 RGD:8554872
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:8554872
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gas1 growth arrest-specific 1 JBrowse link 17 4,846,116 4,849,350 RGD:11554173
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
RGD:11554173
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Matn4 matrilin 4 JBrowse link 3 160,838,632 160,853,650 RGD:8554872
G Nodal nodal growth differentiation factor JBrowse link 20 31,035,729 31,044,096 RGD:11554173
RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
RGD:12798567
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:9743971
RGD:8554872
RGD:11554173
RGD:12801437
RGD:12801425
RGD:12798570
G Six3 SIX homeobox 3 JBrowse link 6 8,886,730 8,891,094 RGD:1599336
RGD:8554872
RGD:11554173
RGD:1599335
G Sufu SUFU negative regulator of hedgehog signaling JBrowse link 1 266,143,766 266,241,742 RGD:8554872
G Tdgf1 teratocarcinoma-derived growth factor 1 JBrowse link 8 119,215,266 119,220,909 RGD:11554173
G Tgif1 TGFB-induced factor homeobox 1 JBrowse link 9 119,181,079 119,190,698 RGD:1599407
RGD:8554872
RGD:11554173
G Twsg1 twisted gastrulation BMP signaling modulator 1 JBrowse link 9 113,699,151 113,732,601 RGD:11554173
G Zic2 Zic family member 2 JBrowse link 15 108,908,366 108,913,812 RGD:11561948
RGD:11561954
RGD:11561949
holoprosencephaly 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gas1 growth arrest-specific 1 JBrowse link 17 4,846,116 4,849,350 RGD:8554872
holoprosencephaly 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdon cell adhesion associated, oncogene regulated JBrowse link 8 36,625,757 36,712,091 RGD:7240710
RGD:8554872
holoprosencephaly 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six3 SIX homeobox 3 JBrowse link 6 8,886,730 8,891,094 RGD:7240710
RGD:8554872
holoprosencephaly 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:7240710
RGD:8554872
holoprosencephaly 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgif1 TGFB-induced factor homeobox 1 JBrowse link 9 119,181,079 119,190,698 RGD:8554872
RGD:7240710
RGD:11554173
holoprosencephaly 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zic2 Zic family member 2 JBrowse link 15 108,908,366 108,913,812 RGD:7240710
RGD:8554872
holoprosencephaly 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:7240710
RGD:8554872
holoprosencephaly 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:7240710
RGD:8554872
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:7240710
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1b DNA cross-link repair 1B JBrowse link 2 206,285,085 206,293,599 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
Hydranencephaly with Renal Aplasia-Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep55 centrosomal protein 55 JBrowse link 1 256,745,251 256,760,794 RGD:8554872
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
Hypopituitarism and Septooptic 'Dysplasia' term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:8554872
G Hesx1 HESX homeobox 1 JBrowse link 16 2,616,538 2,636,708 RGD:7240710
RGD:8554872
G Ralgapb Ral GTPase activating protein non-catalytic beta subunit JBrowse link 3 154,910,291 154,983,021 RGD:8554872
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pus7 pseudouridine synthase 7 JBrowse link 4 7,889,727 7,931,357 RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pak1 p21 (RAC1) activated kinase 1 JBrowse link 1 162,768,156 162,883,356 RGD:8554872
RGD:7240710
Joubert Syndrome 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
Kat6a Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:8554872
Kaufman Oculocerebrofacial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Faxc failed axon connections homolog JBrowse link 5 36,076,565 36,135,884 RGD:8554872
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Slc25a47 solute carrier family 25, member 47 JBrowse link 6 132,762,306 132,767,940 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
G Trpc4 transient receptor potential cation channel, subfamily C, member 4 JBrowse link 2 143,433,102 143,605,757 RGD:8554872
G Ube3b ubiquitin protein ligase E3B JBrowse link 12 47,946,691 47,991,973 RGD:8554872
RGD:7240710
RGD:11554173
Knobloch Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 JBrowse link 19 46,005,055 46,167,912 RGD:8554872
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:7240710
RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872
Lateral Meningocele Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch 3 JBrowse link 7 14,138,495 14,189,688 RGD:8554872
RGD:7240710
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 JBrowse link 1 85,386,492 85,399,699 RGD:11554173
RGD:7240710
RGD:8554872
Leukoencephalopathy Brain Calcifications and Cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox7b cytochrome c oxidase subunit 7B JBrowse link X 77,065,427 77,071,676 RGD:7240710
RGD:8554872
lissencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:13592920
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Ctnna2 catenin alpha 2 JBrowse link 4 107,880,611 109,042,724 RGD:11554173
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:13592920
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:13592920
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:11554173
G Macf1 microtubule-actin crosslinking factor 1 JBrowse link 5 141,039,455 141,363,524 RGD:8554872
G Mir484 microRNA 484 JBrowse link 10 27,845 27,921 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Nbn nibrin JBrowse link 5 29,622,347 29,656,877 RGD:8554872
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:8554872
RGD:11554173
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:7240710
RGD:8554872
RGD:11073221
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:11065022
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:11065022
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:11065022
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:8554872
G Tmtc3 transmembrane and tetratricopeptide repeat containing 3 JBrowse link 7 40,171,957 40,217,056 RGD:11554173
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:8554872
RGD:13592920
RGD:12859083
Lissencephaly 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:7240710
RGD:8554872
Lissencephaly 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:7240710
RGD:8554872
Lissencephaly 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:7240710
RGD:8554872
Lissencephaly 6, with Microcephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Katnb1 katanin regulatory subunit B1 JBrowse link 19 10,340,027 10,360,319 RGD:7240710
RGD:8554872
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk5 cyclin-dependent kinase 5 JBrowse link 4 7,282,945 7,287,427 RGD:7240710
RGD:8554872
Lissencephaly 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmtc3 transmembrane and tetratricopeptide repeat containing 3 JBrowse link 7 40,171,957 40,217,056 RGD:8554872
RGD:7240710
Lissencephaly 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Macf1 microtubule-actin crosslinking factor 1 JBrowse link 5 141,039,455 141,363,524 RGD:7240710
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:8554872
Lissencephaly, X-Linked, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
RGD:11565832
Luscan-Lumish syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setd2 SET domain containing 2, histone lysine methyltransferase JBrowse link 8 118,802,478 118,888,224 RGD:8554872
RGD:7240710
RGD:11554173
Macrocephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:11554173
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link 15 28,612,932 28,672,574 RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:8554872
G Fam177a1 family with sequence similarity 177, member A1 JBrowse link 6 76,041,080 76,055,912 RGD:8554872
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:8554872
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 JBrowse link 1 165,189,934 165,196,949 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
G Nfia nuclear factor I/A JBrowse link 5 116,421,895 116,750,381 RGD:8554872
G Nfib nuclear factor I/B JBrowse link 5 100,436,343 100,647,962 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859034
RGD:8554872
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:8554872
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:8554872
G Slc20a2 solute carrier family 20 member 2 JBrowse link 16 74,318,287 74,408,030 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
G Tbc1d7 TBC1 domain family, member 7 JBrowse link 17 23,774,793 23,792,389 RGD:8554872
G Trit1 tRNA isopentenyltransferase 1 JBrowse link 5 140,711,943 140,756,893 RGD:8554872
G Usp7 ubiquitin specific peptidase 7 JBrowse link 10 6,930,462 7,019,910 RGD:8554872
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
RGD:7240710
RGD:11554173
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rin2 Ras and Rab interactor 2 JBrowse link 3 139,871,330 140,087,679 RGD:7240710
RGD:8554872
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
RGD:7240710
RGD:11554173
macrocephaly-autism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:7240710
RGD:8554872
RGD:12832751
RGD:11554173
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:8554872
G Fam177a1 family with sequence similarity 177, member A1 JBrowse link 6 76,041,080 76,055,912 RGD:8554872
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:8554872
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 JBrowse link 1 165,189,934 165,196,949 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
G Nfia nuclear factor I/A JBrowse link 5 116,421,895 116,750,381 RGD:8554872
G Nfib nuclear factor I/B JBrowse link 5 100,436,343 100,647,962 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:8554872
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:8554872
G Slc20a2 solute carrier family 20 member 2 JBrowse link 16 74,318,287 74,408,030 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
G Tbc1d7 TBC1 domain family, member 7 JBrowse link 17 23,774,793 23,792,389 RGD:7240710
RGD:8554872
G Trit1 tRNA isopentenyltransferase 1 JBrowse link 5 140,711,943 140,756,893 RGD:8554872
G Usp7 ubiquitin specific peptidase 7 JBrowse link 10 6,930,462 7,019,910 RGD:8554872
Malformations of Cortical Development, Group II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsm2 acyl-CoA synthetase medium-chain family member 2 JBrowse link 1 189,289,957 189,329,007 RGD:8554872
G Adam19 ADAM metallopeptidase domain 19 JBrowse link 10 31,146,107 31,240,582 RGD:8554872
G Ahnak2 AHNAK nucleoprotein 2 JBrowse link 6 137,335,273 137,380,219 RGD:8554872
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:8554872
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 3 119,484,714 119,548,491 RGD:8554872
G Armcx4 armadillo repeat containing, X-linked 4 JBrowse link X 105,497,277 105,507,636 RGD:8554872
G Atxn7 ataxin 7 JBrowse link 15 12,421,432 12,569,649 RGD:8554872
G Bex2 brain expressed X-linked 2 JBrowse link X 106,556,838 106,558,366 RGD:8554872
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:8554872
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 JBrowse link 7 126,774,010 126,914,085 RGD:8554872
G Cfap47 cilia and flagella associated protein 47 JBrowse link X
X
46,553,745
46,701,342
46,680,769
46,767,826
RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Dach2 dachshund family transcription factor 2 JBrowse link X 84,924,570 85,484,150 RGD:8554872
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Drosha drosha ribonuclease III JBrowse link 2 62,887,267 63,000,307 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B JBrowse link 1 85,112,819 85,120,840 RGD:8554872
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link 3 1,966,974 2,123,858 RGD:8554872
G Evpl envoplakin JBrowse link 10 105,100,538 105,116,802 RGD:8554872
G Fam205a family with sequence similarity 205, member A JBrowse link 5 58,282,202 58,303,075 RGD:8554872
G Fam47a family with sequence similarity 47, member A JBrowse link X 45,965,258 45,966,930 RGD:8554872
G Filip1 filamin A interacting protein 1 JBrowse link 8 87,257,312 87,453,432 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Frmpd3 FERM and PDZ domain containing 3 JBrowse link X 111,689,587 111,778,943 RGD:8554872
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 JBrowse link X 70,563,381 70,572,295 RGD:8554872
G Grid1 glutamate ionotropic receptor delta type subunit 1 JBrowse link 16 11,170,831 11,932,197 RGD:8554872
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:8554872
G Kank1 KN motif and ankyrin repeat domains 1 JBrowse link 1 243,201,073 243,398,531 RGD:8554872
G Krt25 keratin 25 JBrowse link 10 87,225,361 87,238,659 RGD:8554872
G Lactb lactamase, beta JBrowse link 8 72,750,174 72,766,307 RGD:8554872
G LOC100364500 RT1 class I, locus CE11-like JBrowse link 20 2,704,153 2,707,111 RGD:8554872
G LOC684932 similar to Zinc finger protein 75 JBrowse link X 72,906,565 72,912,322 RGD:8554872
G Lrrc66 leucine rich repeat containing 66 JBrowse link 14 37,128,715 37,153,890 RGD:8554872
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:8554872
G Meis3 Meis homeobox 3 JBrowse link 1 78,065,617 78,079,698 RGD:8554872
G Mettl1 methyltransferase like 1 JBrowse link 7 70,328,470 70,333,045 RGD:8554872
G Mroh2a maestro heat-like repeat family member 2A JBrowse link 9 95,308,142 95,346,577 RGD:8554872
G Muc16 mucin 16, cell surface associated JBrowse link 8 18,438,838 18,639,777 RGD:8554872
G Nap1l2 nucleosome assembly protein 1-like 2 JBrowse link X 73,997,274 73,999,677 RGD:8554872
G Nap1l3 nucleosome assembly protein 1-like 3 JBrowse link X 95,059,334 95,062,132 RGD:8554872
G Nxpe3 neurexophilin and PC-esterase domain family, member 3 JBrowse link 11 47,188,332 47,238,372 RGD:8554872
G Parp14 poly (ADP-ribose) polymerase family, member 14 JBrowse link 11 68,105,442 68,137,509 RGD:8554872
G Phka2 phosphorylase kinase regulatory subunit alpha 2 JBrowse link X 35,970,650 36,926,616 RGD:8554872
G Pi4k2b phosphatidylinositol 4-kinase type 2 beta JBrowse link 14 60,567,968 60,594,821 RGD:8554872
G Pla2g4e phospholipase A2, group IVE JBrowse link 3 111,952,396 112,018,470 RGD:8554872
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 JBrowse link 1 85,386,492 85,399,699 RGD:8554872
G Pnpla4 patatin like phospholipase domain containing 4 JBrowse link X 45,519,406 45,522,988 RGD:8554872
G Prr12 proline rich 12 JBrowse link 1 101,022,373 101,046,228 RGD:8554872
G Ptprt protein tyrosine phosphatase, receptor type, T JBrowse link 3 157,537,192 158,328,984 RGD:8554872
G Rbmx2 RNA binding motif protein, X-linked 2 JBrowse link X 135,550,931 135,558,440 RGD:8554872
G Rfx1 regulatory factor X1 JBrowse link 19 25,181,564 25,212,410 RGD:8554872
G Slc13a1 solute carrier family 13 member 1 JBrowse link 4 51,121,784 51,199,477 RGD:8554872
G Slc38a5 solute carrier family 38, member 5 JBrowse link X 14,963,919 14,972,675 RGD:8554872
G Stx7 syntaxin 7 JBrowse link 1 22,241,655 22,281,850 RGD:8554872
G Tbc1d25 TBC1 domain family, member 25 JBrowse link X 15,064,733 15,088,579 RGD:8554872
G Thada THADA, armadillo repeat containing JBrowse link 6 7,423,555 7,741,431 RGD:8554872
G Tlr6 toll-like receptor 6 JBrowse link 14 45,024,351 45,041,188 RGD:8554872
G Tnk2 tyrosine kinase, non-receptor, 2 JBrowse link 11 71,348,726 71,388,520 RGD:8554872
G Trex2 three prime repair exonuclease 2 JBrowse link X 157,374,305 157,375,913 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:8554872
G Uri1 URI1, prefoldin-like chaperone JBrowse link 1 94,346,513 94,404,362 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
G Wdr62 WD repeat domain 62 JBrowse link 1 90,995,545 91,034,592 RGD:8554872
G Zmat1 zinc finger, matrin-type 1 JBrowse link X 105,804,603 105,836,410 RGD:8554872
G Zscan2 zinc finger and SCAN domain containing 2 JBrowse link 1 142,679,308 142,695,232 RGD:8554872
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eftud2 elongation factor Tu GTP binding domain containing 2 JBrowse link 10 90,932,071 90,983,971 RGD:7240710
RGD:8554872
RGD:10045557
Marshall-Smith syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Ier2 immediate early response 2 JBrowse link 19 25,774,146 25,775,670 RGD:8554872
G Lyl1 LYL1, basic helix-loop-helix family member JBrowse link 19 25,815,207 25,818,074 RGD:8554872
G Nacc1 nucleus accumbens associated 1 JBrowse link 19 25,783,686 25,801,526 RGD:8554872
G Nf1x nuclear factor 1 X JBrowse link 19 25,818,640 25,914,777 RGD:7240710
RGD:8554872
G Trmt1 tRNA methyltransferase 1 JBrowse link 19 25,798,262 25,813,458 RGD:8554872
Meckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Mks1 Meckel syndrome, type 1 JBrowse link 10 75,149,814 75,160,481 RGD:7240710
RGD:8554872
RGD:11535078
RGD:11535074
RGD:11535068
RGD:11535065
RGD:11063991
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
Meckel syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
RGD:7240710
RGD:13592920
Meckel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:7240710
RGD:8554872
RGD:11067331
Meckel syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11535945
RGD:11535082
RGD:11535080
RGD:11535078
RGD:11068761
RGD:11063991
Meckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11070805
Meckel syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
Meckel syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
Meckel syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
Meckel Syndrome, Type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif14 kinesin family member 14 JBrowse link 13 53,350,073 53,421,992 RGD:8554872
RGD:7240710
Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:11554173
RGD:8554872
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
RGD:11554173
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:7240710
RGD:8554872
RGD:11554173
Megalencephaly Cutis Marmorata Telangiectatica Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
RGD:7240710
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:8554872
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:7240710
RGD:8554872
G Cep170 centrosomal protein 170 JBrowse link 13 94,807,090 94,887,448 RGD:8554872
G LOC689766 hypothetical protein LOC689766 JBrowse link 13 95,885,189 95,908,003 RGD:8554872
G Pld5 phospholipase D family, member 5 JBrowse link 13 94,025,696 94,355,219 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:8554872
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:7240710
RGD:8554872
MEHMO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma JBrowse link X 63,268,106 63,291,125 RGD:8554872
RGD:7240710
RGD:11554173
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain JBrowse link 7 36,395,665 36,408,588 RGD:7240710
RGD:8554872
Mental Retardation, X-Linked 93 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brwd3 bromodomain and WD repeat domain containing 3 JBrowse link X 79,817,968 79,909,891 RGD:7240710
RGD:8554872
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:8554872
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clasp1 cytoplasmic linker associated protein 1 JBrowse link 13 34,365,038 34,584,651 RGD:8554872
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:7240710
RGD:8554872
RGD:11537403
RGD:11537402
RGD:11537401
RGD:11537400
microcephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:8554872
G Adgrl2 adhesion G protein-coupled receptor L2 JBrowse link 2 258,792,838 258,997,145 RGD:13838661
G Angpt2 angiopoietin 2 JBrowse link 16 75,966,480 76,016,147 RGD:8554872
G Ankle2 ankyrin repeat and LEM domain containing 2 JBrowse link 12 52,475,862 52,507,126 RGD:8554872
G Ap4m1 adaptor related protein complex 4 subunit mu 1 JBrowse link 12 19,314,222 19,320,339 RGD:8554872
G Arl14ep ADP-ribosylation factor like GTPase 14 effector protein JBrowse link 3 97,981,506 97,993,684 RGD:8554872
G Asf1a anti-silencing function 1A histone chaperone JBrowse link 20 34,894,419 34,909,265 RGD:8554872
G Aspm abnormal spindle microtubule assembly JBrowse link 13 56,546,021 56,591,793 RGD:1599300
RGD:8554872
RGD:13592920
RGD:13439744
RGD:13439741
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 157,236,400 157,312,028 RGD:8554872
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:8554872
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 3 110,367,949 110,420,471 RGD:11554173
G Calhm4 calcium homeostasis modulator family member 4 JBrowse link 20 27,573,809 27,578,269 RGD:8554872
G Calhm5 calcium homeostasis modulator family member 5 JBrowse link 20 27,651,817 27,673,817 RGD:8554872
G Calhm6 calcium homeostasis modulator family member 6 JBrowse link 20 27,681,138 27,683,580 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:11554173
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 JBrowse link 5 86,387,238 86,554,108 RGD:8554872
RGD:13592920
RGD:13450906
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:8554872
G Cep152 centrosomal protein 152 JBrowse link 3 117,822,799 117,894,856 RGD:8554872
G Cep63 centrosomal protein 63 JBrowse link 8 111,063,988 111,116,014 RGD:11554173
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Chd2 chromodomain helicase DNA binding protein 2 JBrowse link 1 134,757,934 134,873,053 RGD:8554872
G Cit citron rho-interacting serine/threonine kinase JBrowse link 12 46,334,669 46,494,152 RGD:13204836
G CitfhJjlo citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo RGD:13204836
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:13592920
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Dcbld1 discoidin, CUB and LCCL domain containing 1 JBrowse link 20 33,359,062 33,455,161 RGD:8554872
G Dhcr7 7-dehydrocholesterol reductase JBrowse link 1 217,018,916 217,034,890 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:11554173
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:11554173
G Donson downstream neighbor of SON JBrowse link 11 31,834,608 31,847,751 RGD:11554173
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:11554173
RGD:8554872
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A JBrowse link 11 34,858,339 34,958,733 RGD:8554872
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:8554872
G Epm2a EPM2A, laforin glucan phosphatase JBrowse link 1 5,448,958 5,571,512 RGD:8554872
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Fam184a family with sequence similarity 184, member A JBrowse link 20 34,935,029 35,054,806 RGD:8554872
G Foxg1 forkhead box G1 JBrowse link 6 69,971,227 69,974,037 RGD:11554173
RGD:8554872
G Gemin4 gem (nuclear organelle) associated protein 4 JBrowse link 10 64,364,808 64,375,885 RGD:8554872
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
G Gopc golgi associated PDZ and coiled-coil motif containing JBrowse link 20 33,471,355 33,521,281 RGD:8554872
G Gprc6a G protein-coupled receptor, class C, group 6, member A JBrowse link 20 32,607,653 32,628,953 RGD:8554872
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548823
G Kdm2b lysine demethylase 2B JBrowse link 12 39,021,924 39,161,954 RGD:8554872
G Kif11 kinesin family member 11 JBrowse link 1 256,035,866 256,088,299 RGD:8554872
G Kif1bp KIF1 binding protein JBrowse link 20 32,191,731 32,211,295 RGD:11554173
G Kif20b kinesin family member 20B JBrowse link 1 253,220,038 253,275,523 RGD:13592920
G Kif23 kinesin family member 23 JBrowse link 8 66,866,043 66,893,241 RGD:8554872
G Kif2a kinesin family member 2A JBrowse link 2 38,145,507 38,208,765 RGD:11554173
G Kif5c kinesin family member 5C JBrowse link 3 35,014,157 35,257,417 RGD:11554173
G Kpna5 karyopherin subunit alpha 5 JBrowse link 20 32,509,573 32,573,591 RGD:8554872
G LOC100911204 protein CASC5-like JBrowse link 3 112,531,429 112,560,698 RGD:8554872
G Man1a1 mannosidase, alpha, class 1A, member 1 JBrowse link 20 35,257,688 35,450,132 RGD:8554872
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor JBrowse link 20 34,818,093 34,930,157 RGD:8554872
G Mcph1 microcephalin 1 JBrowse link 16 75,904,087 76,110,624 RGD:9589021
RGD:13592920
RGD:8554872
RGD:13204745
RGD:13204744
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mfsd2a major facilitator superfamily domain containing 2A JBrowse link 5 140,642,865 140,657,759 RGD:11554173
G Mmaa metabolism of cobalamin associated A JBrowse link 19 32,294,087 32,325,927 RGD:8554872
G Mtss1l MTSS1L, I-BAR domain containing JBrowse link 19 40,904,779 40,925,660 RGD:8554872
G Nbn nibrin JBrowse link 5 29,622,347 29,656,877 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:9590157
G Nup214 nucleoporin 214 JBrowse link 3
3
9,227,869
10,993,584
9,236,878
11,070,638
RGD:8554872
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 20 33,557,052 33,584,011 RGD:8554872
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 RGD:11554173
G Plk4 polo-like kinase 4 JBrowse link 2 127,686,911 127,705,518 RGD:11554173
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:11554173
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:11554173
RGD:8554872
G Rfx6 regulatory factor X, 6 JBrowse link 20 32,709,282 32,764,040 RGD:8554872
G Rnf17 ring finger protein 17 JBrowse link 15 36,609,348 36,744,750 RGD:8554872
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase JBrowse link 20 33,100,190 33,323,544 RGD:8554872
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rttn rotatin JBrowse link 18 86,071,884 86,247,486 RGD:8554872
G Rwdd1 RWD domain containing 1 JBrowse link 20 27,534,361 27,552,225 RGD:8554872
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:11554173
G Slc25a19 solute carrier family 25 member 19 JBrowse link 10 104,166,594 104,179,523 RGD:1624242
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:11554173
G Slc35f1 solute carrier family 35, member F1 JBrowse link 20 33,772,314 34,420,970 RGD:8554872
G Stambp Stam binding protein JBrowse link 4 115,249,343 115,277,340 RGD:11554173
G Stil STIL, centriolar assembly protein JBrowse link 5 133,819,302 133,851,362 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Taldo1 transaldolase 1 JBrowse link 1 214,375,555 214,385,886 RGD:8554872
G Tbcd tubulin folding cofactor D JBrowse link 10 110,643,693 110,800,493 RGD:11554173
G Tcf4 transcription factor 4 JBrowse link 18 65,285,320 65,507,983 RGD:11554173
G Traip TRAF-interacting protein JBrowse link 8 116,730,170 116,750,528 RGD:11554173
G Trappc3l trafficking protein particle complex 3-like JBrowse link 20 27,578,268 27,664,689 RGD:8554872
G Tsen2 tRNA splicing endonuclease subunit 2 JBrowse link 4 147,455,506 147,490,869 RGD:11554173
G Tsen34 tRNA splicing endonuclease subunit 34 JBrowse link 1 64,023,924 64,031,756 RGD:11554173
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:11554173
RGD:8554872
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:11069114
G Tubb5 tubulin, beta 5 class I JBrowse link 20 3,422,448 3,426,420 RGD:13592920
G Tubg1 tubulin, gamma 1 JBrowse link 10 89,030,865 89,037,455 RGD:11554173
G Tubgcp5 tubulin, gamma complex associated protein 5 JBrowse link 1 114,186,853 114,222,516 RGD:8554872
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:8554872
G Vars valyl-tRNA synthetase JBrowse link 20 4,993,539 5,008,259 RGD:8554872
G Vgll2 vestigial-like family member 2 JBrowse link 20 33,077,106 33,082,962 RGD:8554872
G Wdr62 WD repeat domain 62 JBrowse link 1 90,995,545 91,034,592 RGD:11541053
RGD:8554872
RGD:11554173
G Xirp1 xin actin-binding repeat containing 1 JBrowse link 8 128,694,809 128,712,092 RGD:8554872
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
G Zup1 zinc finger containing ubiquitin peptidase 1 JBrowse link 20 32,471,670 32,501,693 RGD:8554872
microcephaly and chorioretinopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plk4 polo-like kinase 4 JBrowse link 2 127,686,911 127,705,518 RGD:11554173
G Tubgcp4 tubulin, gamma complex associated protein 4 JBrowse link 3 113,131,292 113,160,750 RGD:11554173
G Tubgcp6 tubulin, gamma complex associated protein 6 JBrowse link 7 130,080,895 130,102,247 RGD:8554872
RGD:7240710
microcephaly and chorioretinopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plk4 polo-like kinase 4 JBrowse link 2 127,686,911 127,705,518 RGD:7240710
RGD:8554872
microcephaly and chorioretinopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53bp1 tumor protein p53 binding protein 1 JBrowse link 3 113,160,030 113,259,701 RGD:8554872
G Tubgcp4 tubulin, gamma complex associated protein 4 JBrowse link 3 113,131,292 113,160,750 RGD:8554872
RGD:7240710
Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbbp8 RB binding protein 8, endonuclease JBrowse link 18 3,134,630 3,227,702 RGD:7240710
RGD:8554872
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif11 kinesin family member 11 JBrowse link 1 256,035,866 256,088,299 RGD:7240710
RGD:8554872
Microcephaly with Spastic Quadriplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh12 protocadherin 12 JBrowse link 18 31,415,533 31,431,108 RGD:8554872
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcna4 potassium voltage-gated channel subfamily A member 4 JBrowse link 3 98,293,295 98,300,763 RGD:8554872
RGD:7240710
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msmo1 methylsterol monooxygenase 1 JBrowse link 16 26,859,441 26,875,880 RGD:8554872
RGD:7240710
RGD:11554173
Microcephaly, Epilepsy, and Diabetes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ier3ip1 immediate early response 3 interacting protein 1 JBrowse link 4 132,140,802 132,152,059 RGD:7240710
RGD:8554872
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctu2 cytosolic thiouridylase subunit 2 JBrowse link 19 55,300,531 55,305,543 RGD:8554872
RGD:7240710
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:7240710
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
RGD:7240710
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snx3 sorting nexin 3 JBrowse link 20 47,225,382 47,263,390 RGD:7240710
microcephaly, seizures, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trmt10a tRNA methyltransferase 10A JBrowse link 2 243,422,811 243,437,533 RGD:8554872
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trmt10a tRNA methyltransferase 10A JBrowse link 2 243,422,811 243,437,533 RGD:7240710
RGD:8554872
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp1r15b protein phosphatase 1, regulatory subunit 15B JBrowse link 13 49,933,155 49,940,961 RGD:8554872
RGD:7240710
RGD:11554173
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rttn rotatin JBrowse link 18 86,071,884 86,247,486 RGD:7240710
RGD:8554872
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stambp Stam binding protein JBrowse link 4 115,249,343 115,277,340 RGD:7240710
RGD:8554872
Microcephaly-Micromelia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Donson downstream neighbor of SON JBrowse link 11 31,834,608 31,847,751 RGD:8554872
Microhydranencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:7240710
RGD:8554872
Microphthalmia, Syndromic 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgb3 high mobility group box 3 JBrowse link 17 36,690,190 36,694,329 RGD:7240710
RGD:8554872
Microphthalmia, Syndromic 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:11554173
G Sox2 SRY box 2 JBrowse link 2 121,165,137 121,167,545 RGD:7240710
RGD:8554872
Microphthalmia, Syndromic 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:7240710
RGD:8554872
Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:13592920
G Hic1 HIC ZBTB transcriptional repressor 1 JBrowse link 10 62,007,150 62,010,774 RGD:13592920
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:13592920
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:13592920
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon JBrowse link 10 63,884,338 63,921,709 RGD:13592920
Mowat-Wilson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtdc1 glycosyltransferase-like domain containing 1 JBrowse link 3 29,410,426 29,705,981 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:7240710
RGD:8554872
RGD:11554173
G Zeb2os zinc finger E-box binding homeobox 2, opposite strand JBrowse link 3 29,994,753 29,997,626 RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rxylt1 ribitol xylosyltransferase 1 JBrowse link 7 64,329,341 64,341,201 RGD:7240710
RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:7240710
RGD:8554872
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Jag1 jagged 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
G Spg7 SPG7, paraplegin matrix AAA peptidase subunit JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:7240710
RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
RGD:7240710
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:7240710
RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
RGD:7240710
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:7240710
RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:8554872
RGD:7240710
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankmy2 ankyrin repeat and MYND domain containing 2 JBrowse link 6 55,646,905 55,689,223 RGD:8554872
G Bzw2 basic leucine zipper and W2 domains 2 JBrowse link 6 55,586,754 55,647,650 RGD:8554872
G Ispd isoprenoid synthase domain containing JBrowse link 6 55,880,136 56,159,466 RGD:7240710
RGD:8554872
G Lrrc72 leucine rich repeat containing 72 JBrowse link 6 55,694,269 55,757,234 RGD:8554872
G Sostdc1 sclerostin domain containing 1 JBrowse link 6 55,812,820 55,816,994 RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ispd isoprenoid synthase domain containing JBrowse link 6 55,880,136 56,159,466 RGD:8554872
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:7240710
RGD:8554872
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:8554872
RGD:7240710
myelomeningocele term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 JBrowse link 8 77,640,234 77,719,488 RGD:11554173
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:11070819
RGD:12879498
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
RGD:8554872
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:11554173
neural tube defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp activity-dependent neuroprotector homeobox JBrowse link 3 164,937,188 164,964,819 RGD:2312793
G Apaf1 apoptotic peptidase activating factor 1 JBrowse link 7 31,699,309 31,784,192 RGD:8554872
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:11553935
G Bhmt betaine-homocysteine S-methyltransferase JBrowse link 2 23,236,573 23,256,158 RGD:11554173
G Casq2 calsequestrin 2 JBrowse link 2 204,512,361 204,568,643 RGD:8554872
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:1600627
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:7240710
G Cecr2 CECR2, histone acetyl-lysine reader JBrowse link 4 153,217,521 153,327,153 RGD:11554173
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:734781
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 JBrowse link 8 62,451,360 62,458,244 RGD:11554173
G Dlc1 DLC1 Rho GTPase activating protein JBrowse link 16 58,776,489 59,247,752 RGD:8554872
G Folr1 folate receptor 1 JBrowse link 1 166,934,457 166,945,864 RGD:11554173
G Folr2 folate receptor beta JBrowse link 1 166,915,045 166,933,377 RGD:11554173
G Fuz fuzzy planar cell polarity protein JBrowse link 1 100,891,832 100,896,811 RGD:7240710
G Ghrl ghrelin and obestatin prepropeptide JBrowse link 4 145,674,157 145,678,066 RGD:11554173
G Gldc glycine decarboxylase JBrowse link 1 248,295,140 248,377,122 RGD:12904662
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:11554173
G Grhl3 grainyhead-like transcription factor 3 JBrowse link 5 153,893,039 153,925,045 RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:11554173
G Itgb1 integrin subunit beta 1 JBrowse link 19 61,677,512 61,725,537 RGD:8554872
G Kat2a lysine acetyltransferase 2A JBrowse link 10 88,611,586 88,619,558 RGD:9590240
G Kdm2b lysine demethylase 2B JBrowse link 12 39,021,924 39,161,954 RGD:9588256
G Lrp6 LDL receptor related protein 6 JBrowse link 4 168,194,054 168,323,962 RGD:13592920
G Mlf1 myeloid leukemia factor 1 JBrowse link 2 164,549,423 164,582,645 RGD:1600902
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:1600189
RGD:11086705
RGD:11554173
G Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like JBrowse link 1 40,529,092 40,719,232 RGD:12914147
RGD:13592920
RGD:12914149
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
RGD:8554872
RGD:11565102
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:13592920
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:13592920
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:11554173
G Npm1 nucleophosmin 1 JBrowse link 10 18,080,949 18,091,062 RGD:1600902
G Npy1r neuropeptide Y receptor Y1 JBrowse link 16 24,779,480 24,789,131 RGD:11554173
G Pard3 par-3 family cell polarity regulator JBrowse link 19 60,017,746 60,580,628 RGD:8554872
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:11554173
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:4889811
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:11554173
G Pyy peptide YY (mapped) JBrowse link 10 90,047,989 90,049,155 RGD:11554173
G Rrm1 ribonucleotide reductase catalytic subunit M1 JBrowse link 1 167,538,387 167,562,688 RGD:11554173
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11556229
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:11554173
G Slc2a2 solute carrier family 2 member 2 JBrowse link 2 114,413,427 114,445,418 RGD:2312360
G Spint2 serine peptidase inhibitor, Kunitz type, 2 JBrowse link 1 87,199,373 87,221,826 RGD:11554173
G Tbxt T-box transcription factor T JBrowse link 1 52,887,067 52,900,691 RGD:7240710
G Vangl1 VANGL planar cell polarity protein 1 JBrowse link 2 204,575,592 204,625,835 RGD:7240710
RGD:8554872
RGD:11554173
G Vangl2 VANGL planar cell polarity protein 2 JBrowse link 13 90,379,203 90,405,627 RGD:7240710
RGD:11554173
G Zic2 Zic family member 2 JBrowse link 15 108,908,366 108,913,812 RGD:1331525
RGD:11554173
G Zic5 Zic family member 5 JBrowse link 15 108,891,992 108,907,601 RGD:11554173
Neural Tube Defect, Folate-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC102551309 uncharacterized LOC102551309 JBrowse link 5 164,875,558 164,885,606 RGD:8554872
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:11554173
RGD:7240710
RGD:8554872
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7240710
RGD:8554872
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:7240710
RGD:8554872
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lnpk lunapark, ER junction formation factor JBrowse link 3 61,432,128 61,494,828 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nacc1 nucleus accumbens associated 1 JBrowse link 19 25,783,686 25,801,526 RGD:11554173
RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sars seryl-tRNA synthetase JBrowse link 2 211,219,743 211,235,475 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prune1 prune exopolyphosphatase 1 JBrowse link 2 196,427,714 196,457,105 RGD:8554872
RGD:7240710
neurodevelopmental disorder with midbrain and hindbrain malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 2 187,964,100 188,022,847 RGD:8554872
RGD:7240710
RGD:13592920
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plaa phospholipase A2, activating protein JBrowse link 5 113,548,913 113,578,928 RGD:8554872
RGD:7240710
Nijmegen Breakage Syndrome-Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad50 RAD50 double strand break repair protein JBrowse link 10 39,002,130 39,054,042 RGD:7240710
RGD:8554872
Norman-Roberts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:7240710
RGD:8554872
RGD:13207512
Occipital Cortical Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamc3 laminin subunit gamma 3 JBrowse link 3 9,265,407 9,327,107 RGD:7240710
RGD:8554872
parietal foramina term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:8554872
RGD:13592920
G Msx2 msh homeobox 2 JBrowse link 17 11,683,862 11,689,527 RGD:7240710
RGD:8554872
Parietal Foramina 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx2 msh homeobox 2 JBrowse link 17 11,683,862 11,689,527 RGD:8554872
Parietal Foramina 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:7240710
RGD:8554872
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx2 msh homeobox 2 JBrowse link 17 11,683,862 11,689,527 RGD:7240710
RGD:8554872
Partial Agenesis of Corpus Callosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
Perisylvian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrg1 adhesion G protein-coupled receptor G1 JBrowse link 19 10,423,534 10,460,674 RGD:8554872
RGD:7240710
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:11554173
periventricular nodular heterotopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 JBrowse link 3 163,570,435 163,656,612 RGD:8554872
RGD:13592920
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
G Ermard ER membrane-associated RNA degradation JBrowse link 1 56,982,742 57,008,076 RGD:11554173
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:1598953
RGD:8554872
RGD:11565137
RGD:11565112
RGD:11564351
RGD:11554173
RGD:7240710
G Map1b microtubule-associated protein 1B JBrowse link 2 29,675,391 29,768,750 RGD:8554872
G Nedd4l neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:11554173
G Rpl10 ribosomal protein L10 JBrowse link X 156,438,251 156,440,461 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
Periventricular Nodular Heterotopia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 JBrowse link 3 163,570,435 163,656,612 RGD:7240710
RGD:8554872
RGD:1300288
G Dchs1 dachsous cadherin-related 1 JBrowse link 1 170,594,981 170,629,062 RGD:11554173
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:11554173
Perive