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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital nervous system abnormality
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Accession:DOID:2490 term browser browse the term
Synonyms:exact_synonym: congenital neurologic anomaly
 xref: ICD9CM:742
For additional species annotation, visit the Alliance of Genome Resources.


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congenital nervous system abnormality term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eml1 EMAP like 1 JBrowse link 6 132,367,342 132,450,488 RGD:13592920
agnathia-otocephaly complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:13592920
G Prrx1 paired related homeobox 1 JBrowse link 13 81,147,038 81,215,559 RGD:7240710
RGD:8554872
RGD:11554173
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:13592920
Al-Raqad Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcps decapping enzyme, scavenger JBrowse link 8 36,321,992 36,374,665 RGD:7240710
RGD:8554872
Amish Lethal Microcephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a19 solute carrier family 25 member 19 JBrowse link 10 104,166,594 104,179,523 RGD:8554872
RGD:7240710
anencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx1 ALX homeobox 1 JBrowse link 7 44,751,865 44,771,458 RGD:734689
G Cecr2 CECR2, histone acetyl-lysine reader JBrowse link 4 153,217,521 153,327,153 RGD:13592920
G Efna5 ephrin A5 JBrowse link 9 110,054,002 110,329,878 RGD:13592920
G Lmo4 LIM domain only 4 JBrowse link 2 250,218,635 250,235,435 RGD:13592920
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:11098877
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11073359
G Trim36 tripartite motif-containing 36 JBrowse link 18 40,081,028 40,134,673 RGD:8554872
RGD:7240710
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
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:13592920
RGD:8554872
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thoc6 THO complex 6 JBrowse link 10 12,989,135 12,994,495 RGD:7240710
RGD:8554872
Brain Small Vessel Disease 2 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
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:7240710
RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
ceft palate, cardiac defects, and intellectual disabillity 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 Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Hivep2 human immunodeficiency virus type I enhancer binding protein 2 JBrowse link 1 8,129,354 8,333,890 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:7240710
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
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:7240710
RGD:8554872
RGD:12904735
RGD:12904728
RGD:11568595
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:11554173
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 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
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankmy2 ankyrin repeat and MYND domain containing 2 JBrowse link 6 55,646,905 55,689,223 RGD:8554872
G Bzw2 basic leucine zipper and W2 domains 2 JBrowse link 6 55,586,754 55,647,650 RGD:8554872
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:7240710
RGD:8554872
G Lrrc72 leucine rich repeat containing 72 JBrowse link 6 55,694,269 55,757,234 RGD:8554872
G Sostdc1 sclerostin domain containing 1 JBrowse link 6 55,812,820 55,816,994 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
RGD:13592920
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:8554872
RGD:13592920
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:13592920
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
RGD:7240710
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
RGD:13592920
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rxylt1 ribitol xylosyltransferase 1 JBrowse link 7 64,329,341 64,341,201 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:7240710
RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fnta farnesyltransferase, CAAX box, alpha JBrowse link 16 70,834,957 70,854,724 RGD:8554872
G Hook3 hook microtubule-tethering protein 3 JBrowse link 16 70,710,347 70,818,789 RGD:8554872
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:7240710
RGD:8554872
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 RGD:8554872
G Thap1 THAP domain containing 1 JBrowse link 16 70,661,360 70,665,831 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
RGD:7240710
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:8554872
RGD:7240710
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dele1 DAP3 binding cell death enhancer 1 JBrowse link 18 31,396,897 31,409,914 RGD:8554872
G Pcdh12 protocadherin 12 JBrowse link 18 31,415,533 31,431,108 RGD:7240710
RGD:8554872
Feingold syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mycn MYCN proto-oncogene, bHLH transcription factor JBrowse link 6 38,222,554 38,228,419 RGD: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
Folate-Sensitive Neural Tube Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC102551309 uncharacterized LOC102551309 JBrowse link 5 164,875,558 164,885,606 RGD:8554872
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:7240710
RGD:8554872
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7240710
RGD:8554872
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:7240710
RGD:8554872
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:7240710
RGD:8554872
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11537476
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:7240710
RGD:8554872
RGD:11537476
Galloway-Mowat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:11554173
G Osgep O-sialoglycoprotein endopeptidase JBrowse link 15 27,842,447 27,849,866 RGD:11554173
G Tp53rk TP53 regulating kinase JBrowse link 3 163,552,166 163,555,925 RGD:11554173
G Tprkb Tp53rk binding protein JBrowse link 4 117,589,527 117,604,481 RGD:11554173
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:11554173
G Zfp592 zinc finger protein 592 JBrowse link 1 142,833,999 142,870,997 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
RGD:8554872
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
RGD:8554872
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
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:8554872
RGD:7240710
holoprosencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Boc BOC cell adhesion associated, oncogene regulated JBrowse link 11 61,084,216 61,159,220 RGD:8554872
G Cdon cell adhesion associated, oncogene regulated JBrowse link 8 36,625,757 36,712,091 RGD:8554872
G Cnot1 CCR4-NOT transcription complex, subunit 1 JBrowse link 19 9,668,186 9,761,605 RGD:8554872
G Creb1 cAMP responsive element binding protein 1 JBrowse link 9 71,229,753 71,298,994 RGD:12801437
G Disp1 dispatched RND transporter family member 1 JBrowse link 13 101,451,932 101,597,570 RGD:8554872
G Dll1 delta like canonical Notch ligand 1 JBrowse link 1 57,318,621 57,326,732 RGD:8554872
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:8554872
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gas1 growth arrest-specific 1 JBrowse link 17 4,846,116 4,849,350 RGD:11554173
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
RGD:11554173
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Matn4 matrilin 4 JBrowse link 3 160,838,632 160,853,650 RGD:8554872
G Nodal nodal growth differentiation factor JBrowse link 20 31,035,729 31,044,096 RGD:11554173
RGD:8554872
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 JBrowse link 9 61,066,170 61,134,963 RGD:13592920
G Pign phosphatidylinositol glycan anchor biosynthesis, class N JBrowse link 13 25,510,593 25,662,943 RGD:13592920
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
RGD:12798567
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:9743971
RGD:11554173
RGD:8554872
RGD:12801437
RGD:12801425
RGD:12798570
G Six3 SIX homeobox 3 JBrowse link 6 8,886,730 8,891,094 RGD:1599336
RGD:11554173
RGD:1599335
G Sufu SUFU negative regulator of hedgehog signaling JBrowse link 1 266,143,766 266,241,742 RGD:8554872
G Tdgf1 teratocarcinoma-derived growth factor 1 JBrowse link 8 119,215,266 119,220,909 RGD:11554173
G Tgif1 TGFB-induced factor homeobox 1 JBrowse link 9 119,181,079 119,190,698 RGD:1599407
RGD:8554872
RGD:11554173
G Twsg1 twisted gastrulation BMP signaling modulator 1 JBrowse link 9 113,699,151 113,732,601 RGD:11554173
G Zic2 Zic family member 2 JBrowse link 15 108,908,366 108,913,812 RGD:11561948
RGD:8554872
RGD:11561954
RGD:11561949
holoprosencephaly 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdon cell adhesion associated, oncogene regulated JBrowse link 8 36,625,757 36,712,091 RGD:8554872
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:8554872
G Gas1 growth arrest-specific 1 JBrowse link 17 4,846,116 4,849,350 RGD:8554872
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
G Zic2 Zic family member 2 JBrowse link 15 108,908,366 108,913,812 RGD:8554872
holoprosencephaly 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdon cell adhesion associated, oncogene regulated JBrowse link 8 36,625,757 36,712,091 RGD:7240710
RGD:8554872
Holoprosencephaly 12, with or without Pancreatic Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnot1 CCR4-NOT transcription complex, subunit 1 JBrowse link 19 9,668,186 9,761,605 RGD:7240710
RGD:8554872
Holoprosencephaly 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stag2 stromal antigen 2 JBrowse link X 128,493,603 128,624,418 RGD:7240710
RGD:8554872
holoprosencephaly 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six3 SIX homeobox 3 JBrowse link 6 8,886,730 8,891,094 RGD:7240710
RGD:8554872
holoprosencephaly 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:7240710
RGD:8554872
holoprosencephaly 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgif1 TGFB-induced factor homeobox 1 JBrowse link 9 119,181,079 119,190,698 RGD:8554872
RGD:7240710
holoprosencephaly 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clybl citramalyl-CoA lyase JBrowse link 15 108,608,203 108,838,222 RGD:8554872
G Tm9sf2 transmembrane 9 superfamily member 2 JBrowse link 15 108,526,341 108,579,268 RGD:8554872
G Ubac2 UBA domain containing 2 JBrowse link 15 108,286,407 108,433,531 RGD:8554872
G Zic2 Zic family member 2 JBrowse link 15 108,908,366 108,913,812 RGD:7240710
RGD:8554872
G Zic5 Zic family member 5 JBrowse link 15 108,891,992 108,907,601 RGD:8554872
holoprosencephaly 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:7240710
RGD:8554872
holoprosencephaly 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:7240710
RGD:8554872
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:7240710
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1b DNA cross-link repair 1B JBrowse link 2 206,285,085 206,293,599 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
Hydranencephaly with Renal Aplasia-Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep55 centrosomal protein 55 JBrowse link 1 256,745,251 256,760,794 RGD:8554872
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 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
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
RGD:8554872
Juberg Hayward Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
Kat6a Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:8554872
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G 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 Dll3 delta like canonical Notch ligand 3 JBrowse link 1 85,485,875 85,493,683 RGD:8554872
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 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:13592920
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Ctnna2 catenin alpha 2 JBrowse link 4 107,880,611 109,042,724 RGD:11554173
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:13592920
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:13592920
G Exosc3 exosome component 3 JBrowse link 5 60,866,498 60,871,734 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:11554173
G Macf1 microtubule-actin crosslinking factor 1 JBrowse link 5 141,039,455 141,363,524 RGD:8554872
G Mir484 microRNA 484 JBrowse link 10 27,845 27,921 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Nbn nibrin JBrowse link 5 29,622,347 29,656,877 RGD:8554872
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:8554872
RGD:11554173
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:7240710
RGD:8554872
RGD:11073221
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:11065022
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:11065022
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:11065022
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:8554872
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 JBrowse link 7 40,171,957 40,217,056 RGD:11554173
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:8554872
RGD:13592920
RGD:12859083
Lissencephaly 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 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 Mir484 microRNA 484 JBrowse link 10 27,845 27,921 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:7240710
RGD:8554872
Lissencephaly 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:7240710
RGD:8554872
Lissencephaly 6, with Microcephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Katnb1 katanin regulatory subunit B1 JBrowse link 19 10,340,027 10,360,319 RGD:7240710
RGD:8554872
Lissencephaly 7 with Cerebellar Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk5 cyclin-dependent kinase 5 JBrowse link 4 7,282,945 7,287,427 RGD:7240710
RGD:8554872
Lissencephaly 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 JBrowse link 7 40,171,957 40,217,056 RGD:8554872
RGD:7240710
Lissencephaly 9 with Complex Brainstem Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Macf1 microtubule-actin crosslinking factor 1 JBrowse link 5 141,039,455 141,363,524 RGD:7240710
RGD:8554872
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:8554872
Lissencephaly, X-Linked, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
RGD:11565832
Lowry Wood Syndrome 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
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
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, Autosomal Recessive 34, with variant lissencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain JBrowse link 7 36,395,665 36,408,588 RGD:7240710
RGD:8554872
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 Cdk8 cyclin-dependent kinase 8 JBrowse link 12 10,496,273 10,561,335 RGD:8554872
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 Adgrl2 adhesion G protein-coupled receptor L2 JBrowse link 2 258,792,838 258,997,145 RGD:13838661
G Ankle2 ankyrin repeat and LEM domain containing 2 JBrowse link 12 52,475,862 52,507,126 RGD:8554872
G Asf1a anti-silencing function 1A histone chaperone JBrowse link 20 34,894,419 34,909,265 RGD:8554872
G Aspm assembly factor for spindle microtubules JBrowse link 13 56,546,021 56,591,793 RGD:1599300
RGD:8554872
RGD:13592920
RGD:13439744
RGD:13439741
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 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 Camk2b calcium/calmodulin-dependent protein kinase II beta JBrowse link 14 86,208,876 86,297,727 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 Cert1 ceramide transporter 1 JBrowse link 2 27,365,145 27,469,797 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 COPI coat complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:13592920
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 DNA replication fork stabilization factor DONSON 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
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 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 Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548823
G Kif11 kinesin family member 11 JBrowse link 1 256,035,866 256,088,299 RGD:8554872
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 Kifbp kinesin family binding protein JBrowse link 20 32,191,731 32,211,295 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:13204745
RGD:13204744
RGD:8554872
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 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 Pak3 p21 (RAC1) activated kinase 3 JBrowse link X 114,784,452 115,042,683 RGD:8554872
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 Polk DNA polymerase kappa JBrowse link 2 27,305,718 27,364,906 RGD:8554872
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Rbm10 RNA binding motif protein 10 JBrowse link X 1,754,869 1,786,973 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
RGD:8554872
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 Svbp small vasohibin binding protein JBrowse link 5 138,245,639 138,251,353 RGD:8554872
G Taf8 TATA-box binding protein associated factor 8 JBrowse link 9 15,513,048 15,532,992 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
RGD:8554872
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 Trio trio Rho guanine nucleotide exchange factor JBrowse link 2 80,471,398 80,769,313 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 Vars1 valyl-tRNA synthetase 1 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 Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:8554872
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, 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, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cars cysteinyl-tRNA synthetase JBrowse link 1 216,759,367 216,801,652 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
RGD:8554872
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, 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 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 DNA replication fork stabilization factor DONSON 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
Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:13592920
G Hic1 HIC ZBTB transcriptional repressor 1 JBrowse link 10 62,007,150 62,010,774 RGD:13592920
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:13592920
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:13592920
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon JBrowse link 10 63,884,338 63,921,709 RGD:13592920
Mowat-Wilson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtdc1 glycosyltransferase-like domain containing 1 JBrowse link 3 29,410,426 29,705,981 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:7240710
RGD:8554872
RGD:11554173
G Zeb2os zinc finger E-box binding homeobox 2, opposite strand JBrowse link 3 29,994,753 29,997,626 RGD:8554872
Nabais Sa-de Vries Syndrome, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spop speckle type BTB/POZ protein JBrowse link 10 83,231,187 83,311,987 RGD:8554872
RGD:7240710
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 Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adarb1 adenosine deaminase, RNA-specific, B1 JBrowse link 20 11,972,352 12,101,022 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1i2 dynein cytoplasmic 1 intermediate chain 2 JBrowse link 3 57,817,677 57,868,854 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smpd4 sphingomyelin phosphodiesterase 4 JBrowse link 11 87,522,971 87,546,687 RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sars1 seryl-tRNA synthetase 1 JBrowse link 2 211,219,743 211,235,475 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gemin4 gem (nuclear organelle) associated protein 4 JBrowse link 10 64,364,808 64,375,885 RGD:8554872
RGD:7240710
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmx2 thioredoxin-related transmembrane protein 2 JBrowse link 3 72,073,429 72,081,079 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
RGD:8554872
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
Norman-Roberts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:7240710
RGD:8554872
RGD:13207512
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubgcp2 tubulin, gamma complex associated protein 2 JBrowse link 1 212,333,740 212,359,352 RGD:8554872
RGD:7240710
periventricular nodular heterotopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 JBrowse link 3 163,570,435 163,656,612 RGD:8554872
RGD:13592920
G Bag6 BAG cochaperone 6 JBrowse link 20 5,124,512 5,138,084 RGD:8554872
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
G Ermard ER membrane-associated RNA degradation JBrowse link 1 56,982,742 57,008,076 RGD:11554173
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:1598953
RGD:8554872
RGD:11565137
RGD:11565112
RGD:11564351
RGD:11554173
RGD:7240710
G Map1b microtubule-associated protein 1B JBrowse link 2 29,675,391 29,768,750 RGD:8554872
G Nedd4l NEDD4 like E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:11554173
G Rpl10 ribosomal protein L10 JBrowse link X 156,438,251 156,440,461 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
Periventricular Nodular Heterotopia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 JBrowse link 3 163,570,435 163,656,612 RGD:7240710
RGD:8554872
RGD:1300288
G Dchs1 dachsous cadherin-related 1 JBrowse link 1 170,594,981 170,629,062 RGD:11554173
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:11554173
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
RGD:11554173
Periventricular Nodular Heterotopia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ermard ER membrane-associated RNA degradation JBrowse link 1 56,982,742 57,008,076 RGD:7240710
RGD:8554872
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nedd4l NEDD4 like E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:8554872
RGD:7240710
Periventricular Nodular Heterotopia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arf1 ADP-ribosylation factor 1 JBrowse link 10 45,562,700 45,579,214 RGD:8554872
RGD:7240710
Periventricular Nodular Heterotopia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map1b microtubule-associated protein 1B JBrowse link 2 29,675,391 29,768,750 RGD:7240710
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
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:11554173
RGD:8554872
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:11554173
RGD:13450938
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 assembly factor for spindle microtubules 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
RGD:8554872
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 LOC100911204 protein CASC5-like JBrowse link 3 112,531,429 112,560,698 RGD:9068941
G Mcph1 microcephalin 1 JBrowse link 16 75,904,087 76,110,624 RGD:13204748
RGD:8554872
RGD:13204750
G Wdr62 WD repeat domain 62 JBrowse link 1 90,995,545 91,034,592 RGD:11541051
RGD:8554872
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 Aspm assembly factor for spindle microtubules JBrowse link 13 56,546,021 56,591,793 RGD:8554872
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 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 COPI coat 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 Map11 microtubule associated protein 11 JBrowse link 12 19,577,895 19,582,185 RGD:7240710
RGD:8554872
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 assembly factor for spindle microtubules JBrowse link 13 56,546,021 56,591,793 RGD:8554872
RGD:7240710
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 Qars1 glutaminyl-tRNA synthetase 1 JBrowse link 8 117,297,670 117,305,708 RGD:7240710
RGD:8554872
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flvcr2 FLVCR heme transporter 2 JBrowse link 6 109,617,348 109,681,495 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
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:1599404
RGD:8554872
RGD:10053614
RGD:7240710
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: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:8554872
RGD:11541118
RGD:11541114
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
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 and Microcephaly with Genital Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpt centromere protein T JBrowse link 19 37,813,284 37,819,782 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
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
subcortical band heterotopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:12904717
G Eml1 EMAP like 1 JBrowse link 6 132,367,342 132,450,488 RGD:8554872
RGD:7240710
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:8554872
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:12904718
RGD:12904762
RGD:12904725
syndromic microphthalmia 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
syndromic microphthalmia 8 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
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
Tsukahara Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp407 zinc finger protein 407 JBrowse link 18 81,057,507 81,453,682 RGD:8554872
Walker-Warburg syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148028
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:11554173
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:11554173
G Calm3 calmodulin 3 JBrowse link 1 78,844,520 78,851,628 RGD:8554872
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:13592920
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:11554173
G Dact3 dishevelled-binding antagonist of beta-catenin 3 JBrowse link 1 78,800,754 78,812,483 RGD:8554872
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11537405
RGD:11554173
RGD:11537406
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:11667969
RGD:8554872
RGD:11554173
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:1598929
RGD:8554872
RGD:11554173
RGD:11537406
RGD:11062579
RGD:11576320
G Fsd1l fibronectin type III and SPRY domain containing 1-like JBrowse link 5 70,441,075 70,517,131 RGD:8554872
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:11554173
G Gng8 G protein subunit gamma 8 JBrowse link 1 78,818,360 78,822,224 RGD:8554872
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:8554872
RGD:11554173
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
RGD:11554173
RGD:11071487
RGD:1554293
RGD:11065512
RGD:11532772
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:11532770
RGD:11554173
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:11554173
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:731235
RGD:8554872
RGD:11554173
RGD:11073321
RGD:11532686
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:11532761
RGD:11554173
G Prkd2 protein kinase D2 JBrowse link 1 78,767,911 78,796,223 RGD:8554872
G Ptgir prostaglandin I2 receptor JBrowse link 1 78,833,449 78,835,832 RGD:8554872
G Rxylt1 ribitol xylosyltransferase 1 JBrowse link 7 64,329,341 64,341,201 RGD:11554173
RGD:8554872
G Strn4 striatin 4 JBrowse link 1 78,739,930 78,765,696 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
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
Webb-Dattani Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 JBrowse link 1 146,399,217 146,556,437 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    physical disorder 766
      congenital nervous system abnormality 329
        anencephaly + 14
        holoprosencephaly + 32
        lissencephaly + 59
        microcephaly + 222
        periventricular nodular heterotopia + 13
        subcortical band heterotopia 3
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        congenital nervous system abnormality 329
          anencephaly + 14
          holoprosencephaly + 32
          lissencephaly + 59
          microcephaly + 222
          periventricular nodular heterotopia + 13
          subcortical band heterotopia 3
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.