ONTOLOGY REPORT - ANNOTATIONS


Term:Malformations of Cortical Development, Group I
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Accession:DOID:9005611 term browser browse the term
Definition:Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells.
Synonyms:exact_synonym: Abnormal Proliferation Cortical Malformations;   Cortical Malformations, Group I;   Malformations Due to Abnormal Neuronal and Glial Proliferation or Apoptosis;   Malformations Secondary to Abnormal Neuronal and Glial Proliferation or Apoptosis
 primary_id: MESH:D065703;   RDO:0015950
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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
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
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
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
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
RGD:11554173
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 dimethylaniline monoxygenase 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
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
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:8554872
RGD:7240710
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
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:8554872
RGD:7240710
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
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
RGD:8554872
G Zfp592 zinc finger protein 592 JBrowse link 1 142,833,999 142,870,997 RGD:8554872
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
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
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
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
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
RGD:8554872
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
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
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
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
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
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, metaxin like GST domain containing JBrowse link 5 36,076,565 36,135,884 RGD:8554872
G Frem2 FRAS1 related extracellular matrix 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
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:8554872
RGD:7240710
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 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 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
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
Macrocephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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 Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 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
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
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:12832751
RGD:11554173
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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 Slc20a2 solute carrier family 20 member 2 JBrowse link 16 74,318,287 74,408,030 RGD:8554872
G Tbc1d7 TBC1 domain family, member 7 JBrowse link 17 23,774,793 23,792,389 RGD:7240710
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
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
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
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 glucan phosphatase, laforin 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 Mtss2 MTSS I-BAR domain containing 2 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
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
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
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
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
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, Epilepsy, and Hypomyelination term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfs methenyltetrahydrofolate synthetase JBrowse link 8 96,564,877 96,614,386 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 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
PHGDH deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 JBrowse link 2 200,452,623 200,480,785 RGD:8554872
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
RGD:8554872
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Strada STE20 related adaptor alpha JBrowse link 10 94,355,369 94,384,404 RGD:7240710
RGD:8554872
porencephaly 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:11554173
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:8554872
RGD:13450938
RGD:11554173
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
Porencephaly 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:7240710
RGD:8554872
Postnatal Progressive Microcephaly with Seizures and Brain Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med17 mediator complex subunit 17 JBrowse link 8 13,522,257 13,835,302 RGD:7240710
RGD:8554872
primary autosomal dominant microcephaly 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdfy3 WD repeat and FYVE domain containing 3 JBrowse link 14 9,169,409 9,384,835 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aspm abnormal spindle microtubule assembly JBrowse link 13 56,546,021 56,591,793 RGD:13442485
RGD:8554872
RGD:13442486
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:11541115
G Cit citron rho-interacting serine/threonine kinase JBrowse link 12 46,334,669 46,494,152 RGD:8554872
G Knl1 kinetochore scaffold 1 JBrowse link 3 110,847,304 110,909,807 RGD:9685043
G Mcph1 microcephalin 1 JBrowse link 16 75,904,087 76,110,624 RGD:13204748
RGD:13204750
G Wdr62 WD repeat domain 62 JBrowse link 1 90,995,545 91,034,592 RGD:11541051
RGD:11541056
primary autosomal recessive microcephaly 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Angpt2 angiopoietin 2 JBrowse link 16 75,966,480 76,016,147 RGD:8554872
G Mcph1 microcephalin 1 JBrowse link 16 75,904,087 76,110,624 RGD:8554872
RGD:9589022
RGD:7240710
primary autosomal recessive microcephaly 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp335 zinc finger protein 335 JBrowse link 3 161,357,201 161,378,073 RGD:7240710
RGD:8554872
primary autosomal recessive microcephaly 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phc1 polyhomeotic homolog 1 JBrowse link 4 155,093,947 155,118,838 RGD:7240710
RGD:8554872
primary autosomal recessive microcephaly 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk6 cyclin-dependent kinase 6 JBrowse link 4 27,781,728 27,969,653 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpe centromere protein E JBrowse link 2 240,395,974 240,454,785 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sass6 SAS-6 centriolar assembly protein JBrowse link 2 219,626,851 219,660,975 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfsd2a major facilitator superfamily domain containing 2A JBrowse link 5 140,642,865 140,657,759 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankle2 ankyrin repeat and LEM domain containing 2 JBrowse link 12 52,475,862 52,507,126 RGD:7240710
RGD:8554872
primary autosomal recessive microcephaly 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cit citron rho-interacting serine/threonine kinase JBrowse link 12 46,334,669 46,494,152 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 2 with or without cortical malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr62 WD repeat domain 62 JBrowse link 1 90,995,545 91,034,592 RGD:8554872
RGD:11537475
RGD:11537473
RGD:11537472
RGD:7240710
Primary Autosomal Recessive Microcephaly 20 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
Primary Autosomal Recessive Microcephaly 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncapd2 non-SMC condensin I complex, subunit D2 JBrowse link 4 157,682,855 157,705,903 RGD:8554872
RGD:7240710
Primary Autosomal Recessive Microcephaly 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncapd3 non-SMC condensin II complex, subunit D3 JBrowse link 8 28,075,629 28,145,024 RGD:8554872
RGD:7240710
Primary Autosomal Recessive Microcephaly 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph non-SMC condensin I complex, subunit H JBrowse link 3 119,583,798 119,611,148 RGD:8554872
RGD:7240710
Primary Autosomal Recessive Microcephaly 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup37 nucleoporin 37 JBrowse link 7 28,715,299 28,750,978 RGD:7240710
RGD:8554872
Primary Autosomal Recessive Microcephaly 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1305455 similar to hypothetical protein FLJ10925 JBrowse link 12 19,577,895 19,582,185 RGD:7240710
primary autosomal recessive microcephaly 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 JBrowse link 5 86,387,238 86,554,108 RGD:8554872
RGD:13450905
RGD:11057920
RGD:7240710
primary autosomal recessive microcephaly 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100911204 protein CASC5-like JBrowse link 3 112,531,429 112,560,698 RGD:7240710
RGD:8554872
primary autosomal recessive microcephaly 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aspm abnormal spindle microtubule assembly JBrowse link 13 56,546,021 56,591,793 RGD:8554872
RGD:7240710
G Eif3g eukaryotic translation initiation factor 3, subunit G JBrowse link 8 21,911,632 21,915,664 RGD:8554872
primary autosomal recessive microcephaly 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:8554872
RGD:7240710
G Rnf17 ring finger protein 17 JBrowse link 15 36,609,348 36,744,750 RGD:8554872
primary autosomal recessive microcephaly 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stil STIL, centriolar assembly protein JBrowse link 5 133,819,302 133,851,362 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep135 centrosomal protein 135 JBrowse link 14 34,052,168 34,115,763 RGD:7240710
RGD:8554872
primary autosomal recessive microcephaly 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep152 centrosomal protein 152 JBrowse link 3 117,822,799 117,894,856 RGD:7240710
RGD:8554872
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qars glutaminyl-tRNA synthetase JBrowse link 8 117,297,670 117,305,708 RGD:7240710
RGD:8554872
PSAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:7240710
RGD:8554872
pseudo-TORCH syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ocln occludin JBrowse link 2 30,527,327 30,577,218 RGD:7240710
RGD:8554872
Raine Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:7240710
RGD:8554872
RGD:11560486
Rajab Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Farsb phenylalanyl-tRNA synthetase subunit beta JBrowse link 9 84,324,456 84,383,674 RGD:8554872
RGD:7240710
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
Seckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:7240710
RGD:8554872
RGD:10053614
G Cep152 centrosomal protein 152 JBrowse link 3 117,822,799 117,894,856 RGD:11554173
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:11554173
Seckel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:11554173
G Rbbp8 RB binding protein 8, endonuclease JBrowse link 18 3,134,630 3,227,702 RGD:7240710
RGD:8554872
Seckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:7240710
RGD:11541118
RGD:11541114
RGD:8554872
G Rnf17 ring finger protein 17 JBrowse link 15 36,609,348 36,744,750 RGD:8554872
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph1 diaphanous-related formin 1 JBrowse link 18 30,972,907 31,071,371 RGD:7240710
RGD:8554872
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext2 exostosin glycosyltransferase 2 JBrowse link 3 82,602,784 82,734,557 RGD:8554872
RGD:7240710
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:7240710
RGD:8554872
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cript CXXC repeat containing interactor of PDZ3 domain JBrowse link 6 10,594,147 10,602,103 RGD:7240710
RGD:8554872
G Pigf phosphatidylinositol glycan anchor biosynthesis, class F JBrowse link 6 10,565,841 10,593,972 RGD:8554872
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xrcc4 X-ray repair cross complementing 4 JBrowse link 2 18,674,496 18,927,463 RGD:8554872
RGD:7240710
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link 10 55,943,467 55,970,417 RGD:7240710
RGD:8554872
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a4 solute carrier family 1 member 4 JBrowse link 14 104,582,884 104,612,417 RGD:7240710
RGD:8554872
Spondyloepimetaphyseal Dysplasia, Genevieve Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nans N-acetylneuraminate synthase JBrowse link 5 62,109,352 62,126,492 RGD:8554872
RGD:7240710
G Trim14 tripartite motif-containing 14 JBrowse link 5 62,128,941 62,154,424 RGD:8554872
Stromme syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpf centromere protein F JBrowse link 13 108,132,499 108,178,609 RGD:8554872
RGD:7240710
syndromic X-linked intellectual disability Najm type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:7240710
RGD:8554872
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 21,474,627 21,603,348 RGD:8554872
RGD:7240710
RGD:11554173
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
RGD:7240710
tuberous sclerosis 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 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 JBrowse link 16 68,954,860 68,968,248 RGD:1549429
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:11565117
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547829
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:1624196
RGD:8554872
RGD:11073512
RGD:11570511
RGD:11062248
RGD:11554173
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:8554872
RGD:11062248
RGD:11568672
RGD:11554173
tuberous sclerosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak8 adenylate kinase 8 JBrowse link 3 7,279,429 7,394,509 RGD:8554872
G Spaca9 sperm acrosome associated 9 JBrowse link 3 7,269,851 7,279,253 RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:7240710
RGD:8554872
RGD:11570507
tuberous sclerosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:7240710
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:7240710
RGD:8554872
RGD:11554173
VACTERL/VATER Association with Hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Baz1a bromodomain adjacent to zinc finger domain, 1A JBrowse link 6 75,793,223 75,873,854 RGD:8554872
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:11554173
RGD:8554872
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:8554872
RGD:7240710
Warburg micro syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab18 RAB18, member RAS oncogene family JBrowse link 17 59,844,781 59,876,170 RGD:8554872
RGD:11554173
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
RGD:11554173
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:8554872
RGD:11554173
G Tbc1d20 TBC1 domain family, member 20 JBrowse link 3 147,772,006 147,790,946 RGD:11554173
G Zranb3 zinc finger RANBP2-type containing 3 JBrowse link 13 44,661,375 44,812,430 RGD:8554872
Warburg micro syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
RGD:7240710
G Zranb3 zinc finger RANBP2-type containing 3 JBrowse link 13 44,661,375 44,812,430 RGD:8554872
Warburg micro syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:7240710
RGD:8554872
Warburg micro syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab18 RAB18, member RAS oncogene family JBrowse link 17 59,844,781 59,876,170 RGD:7240710
RGD:8554872
Warburg micro syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d20 TBC1 domain family, member 20 JBrowse link 3 147,772,006 147,790,946 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        Nervous System Malformations 664
          complex cortical dysplasia with other brain malformations 420
            Malformations of Cortical Development, Group I 275
              Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
              Focal Cortical Dysplasia of Taylor 5
              Macrocephaly + 57
              microcephaly + 209
              tuberous sclerosis + 10
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Nervous System Malformations 664
            complex cortical dysplasia with other brain malformations 420
              Malformations of Cortical Development, Group I 275
                Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
                Focal Cortical Dysplasia of Taylor 5
                Macrocephaly + 57
                microcephaly + 209
                tuberous sclerosis + 10
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.