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ONTOLOGY REPORT - ANNOTATIONS


Term:microcephaly
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Accession:DOID:10907 term browser browse the term
Definition:A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Synonyms:exact_synonym: Congenital microcephaly;   Microcephalies;   Microcephalus;   Microlissencephalies;   Microlissencephaly;   Severe Congenital Microcephalies;   Severe Congenital Microcephaly;   microencephaly
 narrow_synonym: Classical primary microcephaly;   PRIMARY MICROCEPHALY, RECESSIVE;   PROGRESSIVE MICROCEPHALY
 primary_id: MESH:D008831;   RDO:0000278
 xref: GARD:3603;   GARD:7038
For additional species annotation, visit the Alliance of Genome Resources.


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microcephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACO2 aconitase 2 JBrowse link 22 41,468,756 41,528,989 RGD:8554872
G ADGRL2 adhesion G protein-coupled receptor L2 JBrowse link 1 81,306,104 81,993,932 RGD:13838661
G ANGPT2 angiopoietin 2 JBrowse link 8 6,499,651 6,563,420 RGD:8554872
G ANKLE2 ankyrin repeat and LEM domain containing 2 JBrowse link 12 132,725,667 132,761,888 RGD:8554872
G AP4M1 adaptor related protein complex 4 subunit mu 1 JBrowse link 7 100,101,413 100,107,180 RGD:8554872
G ARL14EP ADP ribosylation factor like GTPase 14 effector protein JBrowse link 11 30,323,099 30,338,458 RGD:8554872
G ASF1A anti-silencing function 1A histone chaperone JBrowse link 6 118,894,077 118,909,171 RGD:8554872
G ASPM abnormal spindle microtubule assembly JBrowse link 1 197,084,127 197,146,694 RGD:1599300
RGD:8554872
RGD:13592920
RGD:13439744
RGD:13439741
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 153,517,677 153,582,929 RGD:8554872
G ATRX ATRX chromatin remodeler JBrowse link X 77,504,878 77,786,269 RGD:8554872
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 15 40,161,009 40,221,136 RGD:11554173
G CALHM4 calcium homeostasis modulator family member 4 JBrowse link 6 116,529,013 116,561,123 RGD:8554872
G CALHM5 calcium homeostasis modulator family member 5 JBrowse link 6 116,511,645 116,524,792 RGD:8554872
G CALHM6 calcium homeostasis modulator family member 6 JBrowse link 6 116,461,370 116,463,782 RGD:8554872
G CASK calcium/calmodulin dependent serine protein kinase JBrowse link X 41,514,934 41,923,525 RGD:11554173
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 JBrowse link 9 120,388,869 120,580,170 RGD:13450906
RGD:8554872
RGD:13592920
G CENPJ centromere protein J JBrowse link 13 24,882,274 24,922,889 RGD:8554872
G CEP152 centrosomal protein 152 JBrowse link 15 48,662,534 48,811,904 RGD:8554872
G CEP63 centrosomal protein 63 JBrowse link 3 134,485,724 134,783,169 RGD:11554173
G CEP85L centrosomal protein 85 like JBrowse link 6 118,460,772 118,710,101 RGD:8554872
G CHD2 chromodomain helicase DNA binding protein 2 JBrowse link 15 92,900,321 93,028,007 RGD:8554872
G CIT citron rho-interacting serine/threonine kinase JBrowse link 12 119,685,790 119,877,318 RGD:13204836
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 48,564,073 48,595,302 RGD:8554872
G COPB2 coatomer protein complex subunit beta 2 JBrowse link 3 139,355,595 139,389,680 RGD:13592920
G CSTB cystatin B JBrowse link 21 43,773,665 43,776,375 RGD:8554872
G DCBLD1 discoidin, CUB and LCCL domain containing 1 JBrowse link 6 117,480,351 117,569,858 RGD:8554872
G DHCR7 7-dehydrocholesterol reductase JBrowse link 11 71,434,411 71,448,431 RGD:8554872
G DNM1L dynamin 1 like JBrowse link 12 32,679,200 32,745,650 RGD:11554173
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 2 25,232,961 25,342,590 RGD:11554173
G DONSON downstream neighbor of SON JBrowse link 21 33,577,551 33,588,708 RGD:11554173
G DSE dermatan sulfate epimerase JBrowse link 6 116,254,152 116,441,261 RGD:8554872
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 101,964,528 102,050,798 RGD:8554872
RGD:11554173
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A JBrowse link 21 37,365,573 37,515,376 RGD:8554872
G EP300 E1A binding protein p300 JBrowse link 22 41,092,586 41,180,077 RGD:8554872
G EPM2A EPM2A glucan phosphatase, laforin JBrowse link 6 145,382,540 145,736,021 RGD:8554872
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 10 49,454,480 49,539,538 RGD:11554173
G FAM162B family with sequence similarity 162 member B JBrowse link 6 116,752,197 116,765,723 RGD:8554872
G FAM184A family with sequence similarity 184 member A JBrowse link 6 118,959,829 119,149,193 RGD:8554872
G FOXG1 forkhead box G1 JBrowse link 14 28,767,072 28,770,277 RGD:11554173
RGD:8554872
G GEMIN4 gem nuclear organelle associated protein 4 JBrowse link 17 744,421 752,868 RGD:8554872
G GLI2 GLI family zinc finger 2 JBrowse link 2 120,735,865 120,992,653 RGD:8554872
G GOPC golgi associated PDZ and coiled-coil motif containing JBrowse link 6 117,560,269 117,602,542 RGD:8554872
G GPRC6A G protein-coupled receptor class C group 6 member A JBrowse link 6 116,788,512 116,831,128 RGD:8554872
G HDAC8 histone deacetylase 8 JBrowse link X 72,329,516 72,573,103 RGD:8554872
G HIST1H4C histone cluster 1 H4 family member c JBrowse link 6 26,103,948 26,104,337 RGD:11554173
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:8548823
G KDM2B lysine demethylase 2B JBrowse link 12 121,402,288 121,582,268 RGD:8554872
G KIF11 kinesin family member 11 JBrowse link 10 92,593,068 92,655,395 RGD:8554872
G KIF1BP KIF1 binding protein JBrowse link 10 68,988,721 69,016,983 RGD:11554173
G KIF20B kinesin family member 20B JBrowse link 10 89,701,590 89,774,943 RGD:13592920
G KIF23 kinesin family member 23 JBrowse link 15 69,414,246 69,448,427 RGD:8554872
G KIF2A kinesin family member 2A JBrowse link 5 62,306,162 62,387,184 RGD:11554173
G KIF5C kinesin family member 5C JBrowse link 2 148,875,223 149,026,759 RGD:11554173
G KNL1 kinetochore scaffold 1 JBrowse link 15 40,594,012 40,664,342 RGD:8554872
G KPNA5 karyopherin subunit alpha 5 JBrowse link 6 116,677,643 116,741,867 RGD:8554872
G MAN1A1 mannosidase alpha class 1A member 1 JBrowse link 6 119,177,201 119,350,619 RGD:8554872
G MCM9 minichromosome maintenance 9 homologous recombination repair factor JBrowse link 6 118,813,449 118,935,162 RGD:8554872
G MCPH1 microcephalin 1 JBrowse link 8 6,406,592 6,648,505 RGD:9589021
RGD:8554872
RGD:13592920
RGD:13204745
RGD:13204744
G MCPH1-AS1 MCPH1 antisense RNA 1 JBrowse link 8 6,615,603 6,708,209 RGD:8554872
G MECP2 methyl-CpG binding protein 2 JBrowse link X 154,021,800 154,097,731 RGD:8554872
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
G MFSD2A major facilitator superfamily domain containing 2A JBrowse link 1 39,955,112 39,969,968 RGD:11554173
G MIR17HG miR-17-92a-1 cluster host gene JBrowse link 13 91,347,820 91,354,575 RGD:11554173
G MMAA metabolism of cobalamin associated A JBrowse link 4 145,619,388 145,660,035 RGD:8554872
G MTSS2 MTSS I-BAR domain containing 2 JBrowse link 16 70,661,204 70,686,051 RGD:8554872
G NBN nibrin JBrowse link 8 89,933,336 89,984,724 RGD:8554872
G NSD1 nuclear receptor binding SET domain protein 1 JBrowse link 5 177,131,835 177,300,213 RGD:9590157
G NUP214 nucleoporin 214 JBrowse link 9 131,125,561 131,234,670 RGD:8554872
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 6 117,675,460 117,710,727 RGD:8554872
G ORC1 origin recognition complex subunit 1 JBrowse link 1 52,372,829 52,404,471 RGD:11554173
G PLK4 polo like kinase 4 JBrowse link 4 127,880,861 127,899,224 RGD:11554173
G PLN phospholamban JBrowse link 6 118,548,263 118,561,715 RGD:8554872
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 19 49,861,203 49,867,565 RGD:11554173
G PQBP1 polyglutamine binding protein 1 JBrowse link X 48,897,862 48,903,145 RGD:11554173
RGD:8554872
G RFX6 regulatory factor X6 JBrowse link 6 116,877,213 116,932,163 RGD:8554872
G RNF17 ring finger protein 17 JBrowse link 13 24,747,641 24,888,816 RGD:8554872
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase JBrowse link 6 117,287,918 117,426,065 RGD:8554872
G RSPH4A radial spoke head component 4A JBrowse link 6 116,598,184 116,633,051 RGD:8554872
G RTTN rotatin JBrowse link 18 70,003,804 70,205,726 RGD:8554872
G RWDD1 RWD domain containing 1 JBrowse link 6 116,571,367 116,593,601 RGD:8554872
G SIN3A SIN3 transcription regulator family member A JBrowse link 15 75,369,379 75,455,819 RGD:11554173
G SLC25A19 solute carrier family 25 member 19 JBrowse link 17 75,272,980 75,289,958 RGD:1624242
G SLC2A1 solute carrier family 2 member 1 JBrowse link 1 42,925,375 42,959,176 RGD:11554173
G SLC35F1 solute carrier family 35 member F1 JBrowse link 6 117,907,226 118,317,676 RGD:8554872
G STAMBP STAM binding protein JBrowse link 2 73,828,911 73,873,661 RGD:11554173
G STIL STIL centriolar assembly protein JBrowse link 1 47,250,139 47,314,787 RGD:8554872
G STXBP1 syntaxin binding protein 1 JBrowse link 9 127,612,207 127,692,716 RGD:8554872
G TALDO1 transaldolase 1 JBrowse link 11 747,432 765,024 RGD:8554872
G TBCD tubulin folding cofactor D JBrowse link 17 82,752,048 82,943,186 RGD:11554173
G TCF4 transcription factor 4 JBrowse link 18 55,222,331 55,635,993 RGD:11554173
G TRAIP TRAF interacting protein JBrowse link 3 49,828,595 49,856,584 RGD:11554173
G TRAPPC3L trafficking protein particle complex 3 like JBrowse link 6 116,496,483 116,545,610 RGD:8554872
G TSEN2 tRNA splicing endonuclease subunit 2 JBrowse link 3 12,484,432 12,539,624 RGD:11554173
G TSEN34 tRNA splicing endonuclease subunit 34 JBrowse link 19 54,189,970 54,194,536 RGD:11554173
G TSEN54 tRNA splicing endonuclease subunit 54 JBrowse link 17 75,516,508 75,524,739 RGD:11554173
RGD:8554872
G TUBA1A tubulin alpha 1a JBrowse link 12 49,184,795 49,189,324 RGD:11069114
G TUBB tubulin beta class I JBrowse link 6 30,720,201 30,725,426 RGD:13592920
G TUBG1 tubulin gamma 1 JBrowse link 17 42,609,340 42,615,238 RGD:11554173
G TUBGCP5 tubulin gamma complex associated protein 5 JBrowse link 15 22,983,026 23,039,673 RGD:8554872
G UPF3B UPF3B regulator of nonsense mediated mRNA decay JBrowse link X 119,805,311 119,853,028 RGD:8554872
G VARS valyl-tRNA synthetase JBrowse link 6 31,777,518 31,795,935 RGD:8554872
G VGLL2 vestigial like family member 2 JBrowse link 6 117,265,558 117,273,565 RGD:8554872
G WDR62 WD repeat domain 62 JBrowse link 19 36,054,881 36,111,145 RGD:11541053
RGD:11554173
RGD:8554872
G XIRP1 xin actin binding repeat containing 1 JBrowse link 3 39,183,210 39,192,621 RGD:8554872
G ZC4H2 zinc finger C4H2-type containing JBrowse link X 64,915,802 65,034,744 RGD:11554173
G ZUP1 zinc finger containing ubiquitin peptidase 1 JBrowse link 6 116,635,618 116,668,810 RGD:8554872
AL-RAQAD SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCPS decapping enzyme, scavenger JBrowse link 11 126,303,752 126,350,005 RGD:8554872
RGD:7240710
G GSEC G-quadruplex forming sequence containing lncRNA JBrowse link 11 126,341,716 126,355,587 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 17 75,272,980 75,289,958 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 7 97,852,117 97,928,562 RGD:8554872
RGD:7240710
G CZ1P-ASNS CZ1P-ASNS readthrough JBrowse link 7 97,852,117 97,972,358 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 19 49,818,279 49,840,384 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 16 3,024,019 3,027,755 RGD:8554872
RGD:7240710
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 15 36,891,021 37,101,299 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 135,974,596 136,047,269 RGD:8554872
RGD:7240710
CK Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,830,967 152,869,363 RGD:8554872
RGD:7240710
Cohen Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIR599 microRNA 599 JBrowse link 8 99,536,636 99,536,730 RGD:8554872
G MIR875 microRNA 875 JBrowse link 8 99,536,786 99,536,861 RGD:8554872
G VPS13B vacuolar protein sorting 13 homolog B JBrowse link 8 99,013,085 99,877,586 RGD:8554872
RGD:11554173
RGD:7240710
Feingold syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIR17HG miR-17-92a-1 cluster host gene JBrowse link 13 91,347,820 91,354,575 RGD:11554173
G MYCN MYCN proto-oncogene, bHLH transcription factor JBrowse link 2 15,940,438 15,947,007 RGD:8554872
RGD:11554173
G MYCNOS MYCN opposite strand JBrowse link 2 15,936,265 15,942,459 RGD:8554872
Feingold Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYCN MYCN proto-oncogene, bHLH transcription factor JBrowse link 2 15,940,438 15,947,007 RGD:8554872
RGD:7240710
G MYCNOS MYCN opposite strand JBrowse link 2 15,936,265 15,942,459 RGD:8554872
Feingold Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIR17HG miR-17-92a-1 cluster host gene JBrowse link 13 91,347,820 91,354,575 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 2 112,736,349 112,764,677 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LAGE3 L antigen family member 3 JBrowse link X 154,477,769 154,479,257 RGD:11554173
G OSGEP O-sialoglycoprotein endopeptidase JBrowse link 14 20,447,048 20,455,108 RGD:11554173
G TP53RK TP53 regulating kinase JBrowse link 20 46,684,365 46,689,637 RGD:11554173
G TPRKB TP53RK binding protein JBrowse link 2 73,729,837 73,737,406 RGD:11554173
G WDR73 WD repeat domain 73 JBrowse link 15 84,641,495 84,654,343 RGD:8554872
RGD:11554173
G ZNF592 zinc finger protein 592 JBrowse link 15 84,748,556 84,806,432 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 15 84,641,495 84,654,343 RGD:7240710
RGD:8554872
G ZNF592 zinc finger protein 592 JBrowse link 15 84,748,556 84,806,432 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 154,477,769 154,479,257 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 14 20,447,048 20,455,108 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 20 46,684,365 46,689,637 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 2 73,729,837 73,737,406 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 21 42,843,075 42,891,695 RGD:7240710
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NUP107 nucleoporin 107 JBrowse link 12 68,686,951 68,745,814 RGD:7240710
RGD:8554872
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NUP133 nucleoporin 133 JBrowse link 1 229,441,291 229,508,342 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 11 118,436,490 118,526,832 RGD:8554872
RGD:7240710
G SMC1A structural maintenance of chromosomes 1A JBrowse link X 53,374,149 53,422,728 RGD:8554872
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCLRE1B DNA cross-link repair 1B JBrowse link 1 113,904,619 113,914,086 RGD:8554872
G DKC1 dyskerin pseudouridine synthase 1 JBrowse link X 154,762,742 154,777,689 RGD:8554872
G TERT telomerase reverse transcriptase JBrowse link 5 1,253,167 1,295,047 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 7 105,456,501 105,522,258 RGD:7240710
Kat6a Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KAT6A lysine acetyltransferase 6A JBrowse link 8 41,929,479 42,052,026 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 6 99,271,161 99,350,310 RGD:8554872
G FREM2 FRAS1 related extracellular matrix 2 JBrowse link 13 38,687,036 38,887,131 RGD:8554872
G SLC25A47 solute carrier family 25 member 47 JBrowse link 14 100,323,337 100,330,421 RGD:8554872
G SLC6A9 solute carrier family 6 member 9 JBrowse link 1 43,996,483 44,031,492 RGD:8554872
G TRPC4 transient receptor potential cation channel subfamily C member 4 JBrowse link 13 37,632,063 37,870,425 RGD:8554872
G UBE3B ubiquitin protein ligase E3B JBrowse link 12 109,477,410 109,543,628 RGD:8554872
RGD:11554173
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 19 39,412,582 39,428,415 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 77,899,464 77,905,384 RGD:8554872
RGD:7240710
Lissencephaly 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TUBA1A tubulin alpha 1a JBrowse link 12 49,184,795 49,189,324 RGD:8554872
RGD:7240710
Lissencephaly 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH11 myosin heavy chain 11 JBrowse link 16 15,703,135 15,857,032 RGD:8554872
G NDE1 nudE neurodevelopment protein 1 JBrowse link 16 15,643,267 15,726,353 RGD:8554872
RGD:7240710
Lissencephaly 6, with Microcephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KATNB1 katanin regulatory subunit B1 JBrowse link 16 57,735,602 57,757,250 RGD:8554872
RGD:7240710
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 17 44,850,287 44,899,625 RGD:10045557
RGD:8554872
RGD:7240710
MEHMO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma JBrowse link X 24,054,948 24,078,810 RGD:8554872
RGD:7240710
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCNT pericentrin JBrowse link 21 46,324,122 46,445,769 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 2 121,337,776 121,649,476 RGD:8554872
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) JBrowse link 2 121,530,880 121,531,009 RGD:8554872
RGD:11554173
RGD:7240710
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCNT pericentrin JBrowse link 21 46,324,122 46,445,769 RGD:11537400
RGD:8554872
RGD:7240710
RGD:11537403
RGD:11537402
RGD:11537401
microcephaly and chorioretinopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLK4 polo like kinase 4 JBrowse link 4 127,880,861 127,899,224 RGD:11554173
G TUBGCP4 tubulin gamma complex associated protein 4 JBrowse link 15 43,371,059 43,409,771 RGD:11554173
G TUBGCP6 tubulin gamma complex associated protein 6 JBrowse link 22 50,217,689 50,245,028 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 4 127,880,861 127,899,224 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 15 43,403,064 43,510,728 RGD:8554872
G TUBGCP4 tubulin gamma complex associated protein 4 JBrowse link 15 43,371,059 43,409,771 RGD:8554872
RGD:7240710
Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIR4741 microRNA 4741 JBrowse link 18 22,933,349 22,933,438 RGD:8554872
G RBBP8 RB binding protein 8, endonuclease JBrowse link 18 22,914,121 23,026,486 RGD:8554872
RGD:7240710
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 10 92,593,068 92,655,395 RGD:8554872
RGD:7240710
Microcephaly with Spastic Quadriplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCDH12 protocadherin 12 JBrowse link 5 141,943,585 141,959,062 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 11 30,009,741 30,017,030 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 4 165,327,666 165,343,164 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 18 47,155,019 47,176,374 RGD:8554872
RGD:7240710
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 16 88,706,463 88,715,386 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 21 42,843,075 42,891,695 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 17 18,269,958 18,315,092 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 6 108,211,217 108,261,260 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 19 49,861,203 49,867,565 RGD:8554872
RGD:7240710
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRMT10A tRNA methyltransferase 10A JBrowse link 4 99,546,707 99,564,057 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 4 99,546,707 99,564,057 RGD:8554872
RGD:7240710
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 1 204,398,684 204,412,454 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 70,003,804 70,205,726 RGD:8554872
RGD:7240710
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STAMBP STAM binding protein JBrowse link 2 73,828,911 73,873,661 RGD:8554872
RGD:7240710
Microcephaly-Micromelia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DONSON downstream neighbor of SON JBrowse link 21 33,577,551 33,588,708 RGD:8554872
Microhydranencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDE1 nudE neurodevelopment protein 1 JBrowse link 16 15,643,267 15,726,353 RGD:8554872
RGD:7240710
Microphthalmia, Syndromic 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HMGB3 high mobility group box 3 JBrowse link X 150,980,508 150,990,775 RGD:8554872
RGD:7240710
Mowat-Wilson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GTDC1 glycosyltransferase like domain containing 1 JBrowse link 2 143,945,045 144,333,069 RGD:8554872
G LINC01412 long intergenic non-protein coding RNA 1412 JBrowse link 2 144,521,868 144,579,434 RGD:8554872
G TEX41 testis expressed 41 JBrowse link 2 144,667,967 145,076,729 RGD:8554872
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 2 144,384,375 144,520,391 RGD:8554872
RGD:11554173
RGD:7240710
G ZEB2-AS1 ZEB2 antisense RNA 1 JBrowse link 2 144,519,614 144,520,899 RGD:8554872
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHGDH phosphoglycerate dehydrogenase JBrowse link 1 119,711,796 119,744,226 RGD:8554872
RGD:7240710
G PSAT1 phosphoserine aminotransferase 1 JBrowse link 9 78,297,075 78,330,093 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 1 109,213,893 109,238,182 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 15 79,843,547 79,897,285 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 1 151,008,391 151,035,713 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 9 26,903,370 26,947,473 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 5 132,556,924 132,644,621 RGD:8554872
RGD:7240710
G TH2LCRR T helper type 2 locus control region associated RNA JBrowse link 5 132,630,589 132,656,154 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 1 119,747,996 119,768,932 RGD:8554872
G PHGDH phosphoglycerate dehydrogenase JBrowse link 1 119,711,796 119,744,226 RGD:8554872
RGD:7240710
porencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL4A1 collagen type IV alpha 1 chain JBrowse link 13 110,148,958 110,307,157 RGD:8554872
RGD:11554173
G COL4A2 collagen type IV alpha 2 chain JBrowse link 13 110,307,267 110,513,209 RGD:13450938
RGD:8554872
RGD:11554173
G COL4A2-AS1 COL4A2 antisense RNA 1 JBrowse link 13 110,502,576 110,508,179 RGD:8554872
G COL4A2-AS2 COL4A2 antisense 2 JBrowse link 13 110,456,397 110,463,287 RGD:8554872
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,934,667 11,975,542 RGD:8554872
Porencephaly 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL4A2 collagen type IV alpha 2 chain JBrowse link 13 110,307,267 110,513,209 RGD:8554872
RGD:7240710
G COL4A2-AS1 COL4A2 antisense RNA 1 JBrowse link 13 110,502,576 110,508,179 RGD:8554872
G COL4A2-AS2 COL4A2 antisense 2 JBrowse link 13 110,456,397 110,463,287 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 11 93,784,239 93,813,330 RGD:8554872
RGD:7240710
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 4 84,669,537 84,966,391 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 1 197,084,127 197,146,694 RGD:13442485
RGD:8554872
RGD:13442486
G CENPJ centromere protein J JBrowse link 13 24,882,274 24,922,889 RGD:11541115
G CIT citron rho-interacting serine/threonine kinase JBrowse link 12 119,685,790 119,877,318 RGD:8554872
G KNL1 kinetochore scaffold 1 JBrowse link 15 40,594,012 40,664,342 RGD:9685043
G MCPH1 microcephalin 1 JBrowse link 8 6,406,592 6,648,505 RGD:13204748
RGD:13204750
G WDR62 WD repeat domain 62 JBrowse link 19 36,054,881 36,111,145 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 8 6,499,651 6,563,420 RGD:8554872
G MCPH1 microcephalin 1 JBrowse link 8 6,406,592 6,648,505 RGD:9589022
RGD:8554872
RGD:7240710
G MCPH1-AS1 MCPH1 antisense RNA 1 JBrowse link 8 6,615,603 6,708,209 RGD:8554872
primary autosomal recessive microcephaly 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZNF335 zinc finger protein 335 JBrowse link 20 45,948,653 45,972,910 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHC1 polyhomeotic homolog 1 JBrowse link 12 8,914,664 8,941,467 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDK6 cyclin dependent kinase 6 JBrowse link 7 92,604,921 92,836,627 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 4 103,105,806 103,198,409 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 1 100,082,632 100,133,095 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 1 39,955,112 39,969,968 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 12 132,725,667 132,761,888 RGD:8554872
RGD:7240710
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 12 119,685,790 119,877,318 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 3 139,355,595 139,389,680 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 19 36,054,881 36,111,145 RGD:11537472
RGD:8554872
RGD:7240710
RGD:11537475
RGD:11537473
Primary Autosomal Recessive Microcephaly 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF14 kinesin family member 14 JBrowse link 1 200,551,497 200,620,791 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 12 6,494,132 6,531,966 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 11 134,152,442 134,225,454 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 2 96,335,741 96,377,095 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 12 102,073,962 102,120,131 RGD:7240710
RGD:8554872
Primary Autosomal Recessive Microcephaly 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAP11 microtubule associated protein 11 JBrowse link 7 100,154,420 100,158,721 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 9 120,388,869 120,580,170 RGD:11057920
RGD:8554872
RGD:7240710
RGD:13450905
primary autosomal recessive microcephaly 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KNL1 kinetochore scaffold 1 JBrowse link 15 40,594,012 40,664,342 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASPM abnormal spindle microtubule assembly JBrowse link 1 197,084,127 197,146,694 RGD:8554872
RGD:7240710
G EIF3G eukaryotic translation initiation factor 3 subunit G JBrowse link 19 10,115,014 10,119,924 RGD:8554872
primary autosomal recessive microcephaly 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CENPJ centromere protein J JBrowse link 13 24,882,274 24,922,889 RGD:8554872
RGD:7240710
G RNF17 ring finger protein 17 JBrowse link 13 24,747,641 24,888,816 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 1 47,250,139 47,314,787 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 4 55,948,808 56,033,363 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP152 centrosomal protein 152 JBrowse link 15 48,662,534 48,811,904 RGD:8554872
RGD:7240710
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 3 49,095,932 49,105,129 RGD:8554872
RGD:7240710
PSAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PSAT1 phosphoserine aminotransferase 1 JBrowse link 9 78,297,075 78,330,093 RGD:8554872
RGD:7240710
pseudo-TORCH syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OCLN occludin JBrowse link 5 69,492,292 69,558,104 RGD:8554872
RGD:7240710
Raine Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM20C FAM20C golgi associated secretory pathway kinase JBrowse link 7 192,939 260,774 RGD:11560486
RGD:7240710
RGD:8554872
Rajab Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FARSB phenylalanyl-tRNA synthetase subunit beta JBrowse link 2 222,571,443 222,656,355 RGD:8554872
RGD:7240710
Seckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATR ATR serine/threonine kinase JBrowse link 3 142,449,235 142,578,826 RGD:10053614
RGD:8554872
RGD:7240710
G CEP152 centrosomal protein 152 JBrowse link 15 48,662,534 48,811,904 RGD:11554173
G PCNT pericentrin JBrowse link 21 46,324,122 46,445,769 RGD:11554173
Seckel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCNT pericentrin JBrowse link 21 46,324,122 46,445,769 RGD:11554173
G RBBP8 RB binding protein 8, endonuclease JBrowse link 18 22,914,121 23,026,486 RGD:8554872
RGD:7240710
Seckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CENPJ centromere protein J JBrowse link 13 24,882,274 24,922,889 RGD:11541114
RGD:8554872
RGD:7240710
RGD:11541118
G RNF17 ring finger protein 17 JBrowse link 13 24,747,641 24,888,816 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 5 141,515,016 141,619,055 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 non-homologous end joining factor 1 JBrowse link 2 219,075,324 219,160,865 RGD:8554872
RGD:7240710
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 2 46,617,172 46,630,176 RGD:8554872
RGD:7240710
G PIGF phosphatidylinositol glycan anchor biosynthesis class F JBrowse link 2 46,581,274 46,617,112 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 5 83,077,409 83,370,333 RGD:8554872
RGD:7240710
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 2 64,988,445 65,023,865 RGD:8554872
RGD:7240710
Spondyloepimetaphyseal Dysplasia, Genevieve Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NANS N-acetylneuraminate synthase JBrowse link 9 98,056,677 98,083,083 RGD:8554872
RGD:7240710
G TRIM14 tripartite motif containing 14 JBrowse link 9 98,072,014 98,119,420 RGD:8554872
Stromme syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CENPF centromere protein F JBrowse link 1 214,603,189 214,664,571 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 41,514,934 41,923,525 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 10 27,504,174 27,542,237 RGD:8554872
RGD:11554173
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 2 135,052,265 135,176,667 RGD:8554872
RGD:11554173
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 1 220,148,268 220,272,501 RGD:8554872
RGD:11554173
G TBC1D20 TBC1 domain family member 20 JBrowse link 20 435,477 462,553 RGD:11554173
G ZRANB3 zinc finger RANBP2-type containing 3 JBrowse link 2 135,164,218 135,531,236 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 2 135,052,265 135,176,667 RGD:8554872
RGD:7240710
G ZRANB3 zinc finger RANBP2-type containing 3 JBrowse link 2 135,164,218 135,531,236 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 1 220,148,268 220,272,501 RGD:8554872
RGD:7240710
Warburg micro syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB18 RAB18, member RAS oncogene family JBrowse link 10 27,504,174 27,542,237 RGD:8554872
RGD:7240710
Warburg micro syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBC1D20 TBC1 domain family member 20 JBrowse link 20 435,477 462,553 RGD:8554872
RGD:7240710

Term paths to the root
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Term Annotations click to browse term
  disease 15554
    physical disorder 775
      congenital nervous system abnormality 318
        microcephaly 223
          3p- syndrome 0
          AL-RAQAD SYNDROME 2
          Absent Eyebrows and Eyelashes with Mental Retardation 0
          Agammaglobulinemia, Microcephaly, and Severe Dermatitis 0
          Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
          Amish Lethal Microcephaly 1
          Aphalangia Syndactyly Microcephaly 0
          Asparagine Synthetase Deficiency 2
          Ataxia-Microcephaly-Cataract Syndrome 0
          Baetz-Greenwalt syndrome 0
          Baraitser Brett Piesowicz Syndrome 0
          Basel-Vanagaite-Smirin-Yosef syndrome 1
          Battaglia Neri Syndrome 0
          Beaulieu-Boycott-Innes Syndrome 1
          Boudhina Yedes Khiari syndrome 0
          Brachydactyly, Type A2, With Microcephaly 0
          Branchial Arch Syndrome X-Linked 0
          Bullous Dystrophy, Hereditary Macular Type 0
          CAMFAK Syndrome 0
          CK Syndrome 1
          Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies 1
          Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
          Christianson syndrome 1
          Chromosomal Instability with Tissue-Specific Radiosensitivity 0
          Cohen Syndrome 5
          Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 0
          Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 0
          Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
          Dubowitz syndrome 0
          Ellis Yale Winter Syndrome 0
          Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
          Feingold syndrome + 3
          Filippi Syndrome 1
          Forsythe-Wakeling Syndrome 0
          GOMBO Syndrome 0
          Galloway-Mowat syndrome + 9
          Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
          Hadziselimovic Syndrome 0
          Halal Syndrome 0
          Hersh Podruch Weisskopk Syndrome 0
          Hoyeraal Hreidarsson Syndrome 3
          Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 0
          Hypospadias-Mental Retardation Syndrome 0
          Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature 1
          Jorgenson Lenz Syndrome 0
          Kat6a Syndrome 1
          Kaufman Oculocerebrofacial Syndrome 6
          LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA 1
          Lambotte Syndrome 0
          Linear Skin Defects with Multiple Congenital Anomalies 2 1
          Lissencephaly 3 + 1
          Lissencephaly 4 2
          Lissencephaly 6, with Microcephaly 1
          Lowry Wood Syndrome 0
          MEHMO syndrome 1
          MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
          MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 1
          MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 1
          MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM + 2
          MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 1
          MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 1
          MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 1
          MacDermot Winter Syndrome 0
          Marfanoid Habitus with Microcephaly and Glomerulonephritis 0
          Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
          Microcephalic Osteodysplastic Primordial Dwarfism + 3
          Microcephalic Primordial Dwarfism Toriello Type 0
          Microcephaly Albinism Digital Anomalies Syndrome 0
          Microcephaly Cervical Spine Fusion Anomalies 0
          Microcephaly Deafness Syndrome 0
          Microcephaly Microphthalmos Blindness 0
          Microcephaly Nonsyndromal 0
          Microcephaly Pontocerebellar Hypoplasia Dyskinesia 0
          Microcephaly Seizures Genital Hypoplasia 0
          Microcephaly Seizures Mental Retardation Heart Disorders 0
          Microcephaly Sparse Hair Mental Retardation Seizures 0
          Microcephaly and Chorioretinopathy + 4
          Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
          Microcephaly with Chorioretinopathy, Autosomal Dominant 0
          Microcephaly with Mental Retardation and Digital Anomalies 2
          Microcephaly with Simplified Gyral Pattern 0
          Microcephaly with Spastic Quadriplegia 1
          Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
          Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 0
          Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
          Microcephaly, Epilepsy, and Diabetes Syndrome 1
          Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 1
          Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
          Microcephaly, Macrotia, and Mental Retardation 0
          Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism 1
          Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 0
          Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 0
          Microcephaly-Capillary Malformation Syndrome 1
          Microcephaly-Micromelia Syndrome 1
          Microhydranencephaly 1
          Microphthalmia and Mental Deficiency 0
          Microphthalmia, Syndromic 13 1
          Milner Khallouf Gibson Syndrome 0
          Mirhosseini-Holmes-Walton Syndrome 0
          Mowat-Wilson syndrome 5
          Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES 1
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 1
          NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 1
          Neu-Laxova syndrome 1 2
          Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
          Nijmegen Breakage Syndrome-Like Disorder 2
          Oculopalatocerebral Syndrome 0
          Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
          PHGDH deficiency 2
          PSAT deficiency 1
          Paine Syndrome 0
          Partington Anderson Syndrome 0
          Postnatal Progressive Microcephaly with Seizures and Brain Atrophy 1
          Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 1
          Raine Syndrome 1
          Rajab Syndrome 1
          SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 1
          SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
          SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 1
          SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 1
          Sammartino De Crecchio Syndrome 0
          Say Barber Miller Syndrome 0
          Say Syndrome 0
          Schimke X-Linked Mental Retardation Syndrome 0
          Seckel Syndrome 3 0
          Seckel syndrome 1 3
          Seckel syndrome 2 2
          Seckel syndrome 4 2
          Secretory Diarrhea, Myopathy, and Deafness 0
          Seemanova Lesny Syndrome 0
          Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 1
          Silengo Lerone Pelizza Syndrome 0
          Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
          Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 0
          Spondyloepimetaphyseal Dysplasia, Genevieve Type 2
          Stromme syndrome 1
          Teebi Kaurah Syndrome 0
          Total Anonychia with Microcephaly 0
          Trichodental Syndrome 0
          Tsukahara Syndrome 0
          Warburg micro syndrome + 5
          Warburton Anyane Yeboa Syndrome 0
          Winship Viljoen Leary Syndrome 0
          Zerres Rietschel Majewski Syndrome 0
          achalasia microcephaly syndrome 0
          autosomal dominant microcephaly + 1
          chromosome 15q26-qter deletion syndrome 0
          chromosome 17p13.1 deletion syndrome 0
          hypertelorism, microtia, facial clefting syndrome 0
          mandibulofacial dysostosis, Guion-Almeida type 1
          microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
          microcephaly, seizures, and developmental delay 1
          porencephaly + 5
          primary microcephaly + 29
          pseudo-TORCH syndrome 1 1
          syndromic X-linked intellectual disability Najm type 1
          syndromic X-linked intellectual disability Shrimpton type 0
Path 2
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  disease 15554
    Developmental Diseases 9076
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7830
        Congenital Abnormalities 3629
          Nervous System Malformations 713
            complex cortical dysplasia with other brain malformations 453
              Malformations of Cortical Development, Group I 293
                microcephaly 223
                  3p- syndrome 0
                  AL-RAQAD SYNDROME 2
                  Absent Eyebrows and Eyelashes with Mental Retardation 0
                  Agammaglobulinemia, Microcephaly, and Severe Dermatitis 0
                  Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
                  Amish Lethal Microcephaly 1
                  Aphalangia Syndactyly Microcephaly 0
                  Asparagine Synthetase Deficiency 2
                  Ataxia-Microcephaly-Cataract Syndrome 0
                  Baetz-Greenwalt syndrome 0
                  Baraitser Brett Piesowicz Syndrome 0
                  Basel-Vanagaite-Smirin-Yosef syndrome 1
                  Battaglia Neri Syndrome 0
                  Beaulieu-Boycott-Innes Syndrome 1
                  Boudhina Yedes Khiari syndrome 0
                  Brachydactyly, Type A2, With Microcephaly 0
                  Branchial Arch Syndrome X-Linked 0
                  Bullous Dystrophy, Hereditary Macular Type 0
                  CAMFAK Syndrome 0
                  CK Syndrome 1
                  Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies 1
                  Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
                  Christianson syndrome 1
                  Chromosomal Instability with Tissue-Specific Radiosensitivity 0
                  Cohen Syndrome 5
                  Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 0
                  Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 0
                  Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                  Dubowitz syndrome 0
                  Ellis Yale Winter Syndrome 0
                  Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
                  Feingold syndrome + 3
                  Filippi Syndrome 1
                  Forsythe-Wakeling Syndrome 0
                  GOMBO Syndrome 0
                  Galloway-Mowat syndrome + 9
                  Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
                  Hadziselimovic Syndrome 0
                  Halal Syndrome 0
                  Hersh Podruch Weisskopk Syndrome 0
                  Hoyeraal Hreidarsson Syndrome 3
                  Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 0
                  Hypospadias-Mental Retardation Syndrome 0
                  Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature 1
                  Jorgenson Lenz Syndrome 0
                  Kat6a Syndrome 1
                  Kaufman Oculocerebrofacial Syndrome 6
                  LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA 1
                  Lambotte Syndrome 0
                  Linear Skin Defects with Multiple Congenital Anomalies 2 1
                  Lissencephaly 3 + 1
                  Lissencephaly 4 2
                  Lissencephaly 6, with Microcephaly 1
                  Lowry Wood Syndrome 0
                  MEHMO syndrome 1
                  MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
                  MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 1
                  MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 1
                  MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM + 2
                  MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 1
                  MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 1
                  MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 1
                  MacDermot Winter Syndrome 0
                  Marfanoid Habitus with Microcephaly and Glomerulonephritis 0
                  Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
                  Microcephalic Osteodysplastic Primordial Dwarfism + 3
                  Microcephalic Primordial Dwarfism Toriello Type 0
                  Microcephaly Albinism Digital Anomalies Syndrome 0
                  Microcephaly Cervical Spine Fusion Anomalies 0
                  Microcephaly Deafness Syndrome 0
                  Microcephaly Microphthalmos Blindness 0
                  Microcephaly Nonsyndromal 0
                  Microcephaly Pontocerebellar Hypoplasia Dyskinesia 0
                  Microcephaly Seizures Genital Hypoplasia 0
                  Microcephaly Seizures Mental Retardation Heart Disorders 0
                  Microcephaly Sparse Hair Mental Retardation Seizures 0
                  Microcephaly and Chorioretinopathy + 4
                  Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
                  Microcephaly with Chorioretinopathy, Autosomal Dominant 0
                  Microcephaly with Mental Retardation and Digital Anomalies 2
                  Microcephaly with Simplified Gyral Pattern 0
                  Microcephaly with Spastic Quadriplegia 1
                  Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
                  Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 0
                  Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
                  Microcephaly, Epilepsy, and Diabetes Syndrome 1
                  Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 1
                  Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
                  Microcephaly, Macrotia, and Mental Retardation 0
                  Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism 1
                  Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 0
                  Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 0
                  Microcephaly-Capillary Malformation Syndrome 1
                  Microcephaly-Micromelia Syndrome 1
                  Microhydranencephaly 1
                  Microphthalmia and Mental Deficiency 0
                  Microphthalmia, Syndromic 13 1
                  Milner Khallouf Gibson Syndrome 0
                  Mirhosseini-Holmes-Walton Syndrome 0
                  Mowat-Wilson syndrome 5
                  Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES 1
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 1
                  NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 1
                  Neu-Laxova syndrome 1 2
                  Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
                  Nijmegen Breakage Syndrome-Like Disorder 2
                  Oculopalatocerebral Syndrome 0
                  Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
                  PHGDH deficiency 2
                  PSAT deficiency 1
                  Paine Syndrome 0
                  Partington Anderson Syndrome 0
                  Postnatal Progressive Microcephaly with Seizures and Brain Atrophy 1
                  Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 1
                  Raine Syndrome 1
                  Rajab Syndrome 1
                  SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 1
                  SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
                  SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 1
                  SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 1
                  Sammartino De Crecchio Syndrome 0
                  Say Barber Miller Syndrome 0
                  Say Syndrome 0
                  Schimke X-Linked Mental Retardation Syndrome 0
                  Seckel Syndrome 3 0
                  Seckel syndrome 1 3
                  Seckel syndrome 2 2
                  Seckel syndrome 4 2
                  Secretory Diarrhea, Myopathy, and Deafness 0
                  Seemanova Lesny Syndrome 0
                  Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 1
                  Silengo Lerone Pelizza Syndrome 0
                  Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
                  Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 0
                  Spondyloepimetaphyseal Dysplasia, Genevieve Type 2
                  Stromme syndrome 1
                  Teebi Kaurah Syndrome 0
                  Total Anonychia with Microcephaly 0
                  Trichodental Syndrome 0
                  Tsukahara Syndrome 0
                  Warburg micro syndrome + 5
                  Warburton Anyane Yeboa Syndrome 0
                  Winship Viljoen Leary Syndrome 0
                  Zerres Rietschel Majewski Syndrome 0
                  achalasia microcephaly syndrome 0
                  autosomal dominant microcephaly + 1
                  chromosome 15q26-qter deletion syndrome 0
                  chromosome 17p13.1 deletion syndrome 0
                  hypertelorism, microtia, facial clefting syndrome 0
                  mandibulofacial dysostosis, Guion-Almeida type 1
                  microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
                  microcephaly, seizures, and developmental delay 1
                  porencephaly + 5
                  primary microcephaly + 29
                  pseudo-TORCH syndrome 1 1
                  syndromic X-linked intellectual disability Najm type 1
                  syndromic X-linked intellectual disability Shrimpton type 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.