ONTOLOGY REPORT - ANNOTATIONS


Term:cerebral degeneration
go back to main search page
Accession:DOID:1443 term browser browse the term
Definition:A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue. (DO)
Synonyms:exact_synonym: brain degeneration
 primary_id: RDO:9002746
 xref: GARD:6019
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
cerebral degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap4m1 adaptor related protein complex 4 subunit mu 1 JBrowse link 12 19,314,222 19,320,339 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
adrenoleukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd1 ATP binding cassette subfamily D member 1 JBrowse link X 157,073,860 157,095,652 RGD:1598655
RGD:8554872
RGD:11554173
RGD:7240710
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 JBrowse link 8 59,184,111 59,240,133 RGD:11065111
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Mmp10 matrix metallopeptidase 10 JBrowse link 8 5,734,348 5,742,243 RGD:13204814
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:13204814
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204814
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:11554173
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204814
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:10044243
RGD:8554872
RGD:7240710
Alexander Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:7240710
RGD:8554872
Alpers 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:5148026
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694184
RGD:8554872
RGD:11554173
RGD:8694317
RGD:8694284
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
CADASIL term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:11554173
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:8554872
RGD:11554173
CADASIL 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:7240710
RGD:8554872
CADASIL 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:8554872
RGD:7240710
Canavan disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aspa aspartoacylase JBrowse link 10 59,839,693 59,888,244 RGD:1599291
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1599298
G Cspg4 chondroitin sulfate proteoglycan 4 JBrowse link 8 61,532,465 61,567,510 RGD:5686858
G Ctns cystinosin, lysosomal cystine transporter JBrowse link 10 59,749,250 59,772,475 RGD:8554872
G Emc6 ER membrane protein complex subunit 6 JBrowse link 10 59,741,772 59,743,338 RGD:8554872
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:6484588
G Haspin histone H3 associated protein kinase JBrowse link 10 59,695,403 59,698,398 RGD:8554872
G Itgae integrin subunit alpha E JBrowse link 10 59,652,324 59,711,885 RGD:8554872
G P2rx5 purinergic receptor P2X 5 JBrowse link 10 59,725,438 59,737,126 RGD:8554872
G Shpk sedoheptulokinase JBrowse link 10 59,765,328 59,789,676 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:13592920
G Spata22 spermatogenesis associated 22 JBrowse link 10 59,893,064 59,910,769 RGD:8554872
G Tax1bp3 Tax1 binding protein 3 JBrowse link 10 59,743,356 59,748,063 RGD:8554872
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 JBrowse link 10 59,799,123 59,824,208 RGD:8554872
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:8554872
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7240710
RGD:8554872
cerebral folate receptor alpha deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Folr1 folate receptor 1 JBrowse link 1 166,934,457 166,945,864 RGD:7240710
RGD:8554872
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:7240710
RGD:8554872
Cole-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:8554872
RGD:11554173
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:11554173
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:7240710
RGD:8554872
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:7240710
RGD:8554872
cystic kidney disease with ventriculomegaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb2 crumbs cell polarity complex component 2 JBrowse link 3 22,037,812 22,061,247 RGD:8554872
RGD:7240710
Dandy Walker Cyst term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
G Tmem47 transmembrane protein 47 JBrowse link X 48,779,110 48,805,644 RGD:8554872
Dandy-Walker syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link 3 60,512,360 60,668,413 RGD:8554872
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
G RGD1307100 similar to RIKEN cDNA D630029K19 JBrowse link 2 123,555,742 123,766,675 RGD:8554872
G Tmem47 transmembrane protein 47 JBrowse link X 48,779,110 48,805,644 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
G Zfp423 zinc finger protein 423 JBrowse link 19 20,147,201 20,405,999 RGD:13592920
G Zic1 Zic family member 1 JBrowse link 8 98,733,715 98,738,960 RGD:1599905
RGD:13592920
G Zic4 Zic family member 4 JBrowse link 8 98,755,104 98,760,737 RGD:13592920
hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Add1 adducin 1 JBrowse link 14 81,367,466 81,426,610 RGD:13592920
G Ak7 adenylate kinase 7 JBrowse link 6 129,538,648 129,606,960 RGD:13592920
G Ak8 adenylate kinase 8 JBrowse link 3 7,279,429 7,394,509 RGD:13592920
G Aqp1 aquaporin 1 (Colton blood group) JBrowse link 4 85,551,503 85,563,683 RGD:5148011
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148011
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:13439722
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:8554872
G Bok BCL2 family apoptosis regulator BOK JBrowse link 9 100,829,593 100,840,498 RGD:1624238
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:13592920
G Ccdc85c coiled-coil domain containing 85C JBrowse link 6 132,113,806 132,183,434 RGD:13592920
G Ccdc88c coiled-coil domain containing 88C JBrowse link 6 124,905,811 125,028,011 RGD:7240710
RGD:8554872
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:11554173
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 JBrowse link 2 211,183,410 211,207,458 RGD:13592920
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:11554173
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:8554872
G Dpcd deleted in primary ciliary dyskinesia JBrowse link 1 265,298,872 265,318,521 RGD:13592920
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:8554872
G E2f5 E2F transcription factor 5 JBrowse link 2 88,350,764 88,366,913 RGD:13592920
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8662364
G Fzd3 frizzled class receptor 3 JBrowse link 15 48,601,259 48,670,257 RGD:13592920
G Gldc glycine decarboxylase JBrowse link 1 248,295,140 248,377,122 RGD:12904662
G Hmgb1 high mobility group box 1 JBrowse link 12 7,082,529 7,090,246 RGD:10402405
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:1624238
G Hydin Hydin, axonemal central pair apparatus protein JBrowse link 19 41,036,507 41,379,634 RGD:634487
RGD:11554173
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:11554173
G Itgb1 integrin subunit beta 1 JBrowse link 19 61,677,512 61,725,537 RGD:2325325
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:8554872
G Kif27 kinesin family member 27 JBrowse link 17 6,701,287 6,776,599 RGD:13592920
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:13592920
RGD:8554872
G Llgl1 LLGL scribble cell polarity complex component 1 JBrowse link 10 46,940,873 46,955,524 RGD:1300301
G Mboat7 membrane bound O-acyltransferase domain containing 7 JBrowse link 1 64,100,159 64,114,437 RGD:13592920
G Mpdz multiple PDZ domain crumbs cell polarity complex component JBrowse link 5 99,413,184 99,566,356 RGD:8554872
RGD:13592920
G Nme5 NME/NM23 family member 5 JBrowse link 18 27,357,460 27,374,641 RGD:13592920
G Nme7 NME/NM23 family member 7 JBrowse link 13 82,607,844 82,737,383 RGD:13592920
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:1358755
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:13592920
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 7 126,618,872 126,687,282 RGD:1624238
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:11554173
G Sox3 SRY-box 3 JBrowse link X 144,035,162 144,037,364 RGD:13592920
G Stk36 serine/threonine kinase 36 JBrowse link 9 81,880,175 81,908,014 RGD:13592920
G Tmem92 transmembrane protein 92 JBrowse link 10 82,545,238 82,575,822 RGD:8554872
G Ulk4 unc-51 like kinase 4 JBrowse link 8 129,631,003 129,919,080 RGD:13592920
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:8554872
RGD:7240710
hydrolethalus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hyls1 HYLS1, centriolar and ciliogenesis associated JBrowse link 8 36,763,470 36,772,199 RGD:8554872
RGD:13592920
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11554173
G Pus3 pseudouridine synthase 3 JBrowse link 8 36,760,874 36,769,167 RGD:8554872
Hydrolethalus Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hyls1 HYLS1, centriolar and ciliogenesis associated JBrowse link 8 36,763,470 36,772,199 RGD:7240710
RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11554173
G Pus3 pseudouridine synthase 3 JBrowse link 8 36,760,874 36,769,167 RGD:8554872
Hydrolethalus Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr2 pyrroline-5-carboxylate reductase 2 JBrowse link 13 99,184,624 99,188,418 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1c RNA polymerase I and III subunit C JBrowse link 9 17,120,759 17,124,871 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps11 VPS11 core subunit of CORVET and HOPS complexes JBrowse link 8 48,677,492 48,692,295 RGD:8554872
RGD:7240710
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hikeshi Hikeshi, heat shock protein nuclear import factor JBrowse link 1 154,147,098 154,170,429 RGD:8554872
RGD:7240710
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ufm1 ubiquitin-fold modifier 1 JBrowse link 2 143,096,268 143,104,412 RGD:8554872
RGD:7240710
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eprs glutamyl-prolyl-tRNA synthetase JBrowse link 13 103,300,911 103,371,651 RGD:8554872
RGD:7240710
Hypomyelinating Leukodystrophy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem106b transmembrane protein 106B JBrowse link 4 39,517,679 39,534,491 RGD:8554872
RGD:7240710
Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 JBrowse link 12 12,738,784 12,748,345 RGD:8554872
RGD:7240710
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:7240710
RGD:8554872
RGD:13208581
RGD:13208580
RGD:13208533
RGD:13208526
RGD:13208525
RGD:11554173
G Snap29 synaptosome associated protein 29 JBrowse link 11 87,827,633 87,858,107 RGD:8554872
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 JBrowse link 2 237,727,782 237,751,327 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:7240710
RGD:8554872
RGD:12910473
RGD:11554173
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:8554872
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam126a family with sequence similarity 126, member A JBrowse link 4 7,661,710 7,770,179 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb4a tubulin, beta 4A class IVa JBrowse link 9 9,961,020 9,968,420 RGD:8554872
RGD:7240710
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:7240710
RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872
RGD:11554173
G Rps24 ribosomal protein S24 JBrowse link 16 757,390 762,091 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:7240710
RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rars arginyl-tRNA synthetase JBrowse link 10 20,633,630 20,658,074 RGD:7240710
RGD:8554872
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:7240710
RGD:8554872
Karak Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:8554872
leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
G Arsa arylsulfatase A JBrowse link 7 130,446,644 130,452,632 RGD:8554872
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:13592920
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 11 84,080,273 84,090,259 RGD:8554872
G Galc galactosylceramidase JBrowse link 6 122,177,195 122,239,411 RGD:8554872
G Men1 menin 1 JBrowse link 1 221,704,394 221,710,343 RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
G Rnf216 ring finger protein 216 JBrowse link 12 13,508,429 13,631,689 RGD:8554872
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 JBrowse link 1 85,386,492 85,399,699 RGD:8554872
RGD:7240710
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha JBrowse link 12 37,444,136 37,452,391 RGD:7240710
RGD:8554872
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta JBrowse link 6 109,044,830 109,051,254 RGD:734925
RGD:8554872
RGD:11554173
RGD:7240710
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 5 135,882,946 135,949,276 RGD:7240710
RGD:8554872
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta JBrowse link 6 26,546,917 26,552,474 RGD:7240710
RGD:8554872
RGD:11554173
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 11 84,080,273 84,090,259 RGD:734925
RGD:8554872
RGD:11554173
RGD:7240710
G Gtf2h3 general transcription factor IIH subunit 3 JBrowse link 12 37,427,556 37,444,027 RGD:8554872
G Mlh3 mutL homolog 3 JBrowse link 6 109,059,386 109,095,876 RGD:8554872
Meckel syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:8554872
RGD:11554173
G Mlc1 modulator of VRAC current 1 JBrowse link 7 129,949,984 129,970,314 RGD:8554872
RGD:11554173
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:13592920
RGD:8554872
G Mlc1 modulator of VRAC current 1 JBrowse link 7 129,949,984 129,970,314 RGD:8554872
RGD:7240710
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:7240710
RGD:8554872
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:7240710
RGD:8554872
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:11554173
RGD:8554872
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
RGD:11554173
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:8554872
RGD:11554173
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:7240710
RGD:8554872
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:7240710
RGD:8554872
G Cep170 centrosomal protein 170 JBrowse link 13 94,807,090 94,887,448 RGD:8554872
G LOC689766 hypothetical protein LOC689766 JBrowse link 13 95,885,189 95,908,003 RGD:8554872
G Pld5 phospholipase D family, member 5 JBrowse link 13 94,025,696 94,355,219 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:8554872
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:7240710
RGD:8554872
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tango2 transport and golgi organization 2 homolog JBrowse link 11 86,793,959 86,840,556 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
RGD:7240710
neuroaxonal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ireb2 iron responsive element binding protein 2 JBrowse link 8 59,450,974 59,503,634 RGD:11344088
G Naga alpha-N-acetylgalactosaminidase JBrowse link 7 123,563,047 123,572,074 RGD:1600557
RGD:11554173
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:6482732
RGD:8554872
RGD:6482740
RGD:6482739
RGD:6482736
RGD:6482735
G Tecpr2 tectonin beta-propeller repeat containing 2 JBrowse link 6 135,304,536 135,405,865 RGD:11554173
G Uchl1 ubiquitin C-terminal hydrolase L1 JBrowse link 14 43,133,224 43,143,942 RGD:1302546
G Uchl3 ubiquitin C-terminal hydrolase L3 JBrowse link 15 86,153,624 86,198,127 RGD:1302546
neurodegeneration with brain iron accumulation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crat carnitine O-acetyltransferase JBrowse link 3 8,967,984 8,981,959 RGD:8554872
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:8554872
RGD:11554173
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:8554872
G Reps1 RALBP1 associated Eps domain containing 1 JBrowse link 1 13,262,049 13,298,347 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:11554173
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:7240710
RGD:8554872
RGD:12910703
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:7240710
RGD:8554872
neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:5509859
RGD:8554872
RGD:7240710
RGD:5509861
RGD:5509860
G Gys1 glycogen synthase 1 JBrowse link 1 101,427,195 101,447,092 RGD:8554872
neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC690000 similar to CG3740-PA JBrowse link 1 94,572,714 94,587,842 RGD:7240710
RGD:8554872
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:7240710
RGD:8554872
neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coasy Coenzyme A synthase JBrowse link 10 88,992,413 88,996,677 RGD:7240710
RGD:8554872
Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Reps1 RALBP1 associated Eps domain containing 1 JBrowse link 1 13,262,049 13,298,347 RGD:8554872
RGD:7240710
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crat carnitine O-acetyltransferase JBrowse link 3 8,967,984 8,981,959 RGD:8554872
RGD:7240710
Nonsyndromic Hydrocephalus, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadm acyl-CoA dehydrogenase medium chain JBrowse link 2 260,124,418 260,148,589 RGD:8554872
G Mpdz multiple PDZ domain crumbs cell polarity complex component JBrowse link 5 99,413,184 99,566,356 RGD:7240710
RGD:8554872
normal pressure hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmpca peptidase, mitochondrial processing alpha subunit JBrowse link 3 3,834,262 3,842,061 RGD:8554872
obstructive hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo9a myosin IXA JBrowse link 8 64,573,248 64,777,607 RGD:13592920
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:7240710
RGD:8554872
RGD:11554173
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:6480098
G Sncb synuclein, beta JBrowse link 17 10,384,472 10,392,776 RGD:6480098
G Sncg synuclein, gamma JBrowse link 16 10,722,110 10,726,648 RGD:6480098
Pelizaeus-Merzbacher disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:8554872
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:11554173
G Plp1 proteolipid protein 1 JBrowse link X 107,494,326 107,511,355 RGD:1358783
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1358559
G Rab9b RAB9B, member RAS oncogene family JBrowse link X 107,531,404 107,542,510 RGD:8554872
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acox1 acyl-CoA oxidase 1 JBrowse link 10 104,724,534 104,748,003 RGD:7240710
RGD:8554872
G Ten1 TEN1 subunit of CST complex JBrowse link 10 105,073,077 105,095,094 RGD:8554872
Peroxisome Biogenesis Disorder 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:7240710
RGD:8554872
Posthemorrhagic Hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcan brevican JBrowse link 2 187,359,674 187,373,133 RGD:6483013
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:6483013
Progressive Leukodystrophy, Early Childhood-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acer3 alkaline ceramidase 3 JBrowse link 1 163,160,987 163,263,621 RGD:8554872
RGD:7240710
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
Ritscher-Schinzel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:11554173
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
RGD:11554173
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:7240710
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:7240710
RGD:8554872
Schindler Disease, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naga alpha-N-acetylgalactosaminidase JBrowse link 7 123,563,047 123,572,074 RGD:7240710
RGD:8554872
RGD:11554173
G Wbp2nl WBP2 N-terminal like JBrowse link 7 123,531,657 123,548,574 RGD:8554872
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 JBrowse link X 32,329,883 32,376,301 RGD:7240710
RGD:8554872
RGD:11554173
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:8554872
VACTERL/VATER Association with Hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Baz1a bromodomain adjacent to zinc finger domain, 1A JBrowse link 6 75,793,223 75,873,854 RGD:8554872
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:11554173
RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:8554872
RGD:7240710
X-Linked Hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:6483012
RGD:8554872
RGD:11554173
RGD:7240710
RGD:6483078
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            cerebral degeneration 195
              Alpers syndrome + 5
              cerebral lipidosis 0
              hydrocephalus + 91
              leukodystrophy + 77
              neuroaxonal dystrophy + 23
              senile degeneration of brain 0
paths to the root

NHLBI Logo

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