Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Delayed CNS myelination
go back to main search page
Accession:HP:0002188 term browser browse the term
Definition:Delayed myelination in the central nervous system.
Comment:A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood.
Synonyms:exact_synonym: Delay in central nervous system myelination
 alt_id: HP:0005770;   HP:0006974;   HP:0007300
 xref: UMLS:C4021758


show annotations for term's descendants           Sort by:
Delayed CNS myelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO MIM:619691 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ACTL6B actin like 6B IAGP HPO MIM:618468 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G ACY1 aminoacylase 1 IAGP HPO MIM:609924 NCBI chr 3:51,983,535...51,989,197
Ensembl chr 3:51,983,340...51,989,197 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 IAGP HPO MIM:618862 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO MIM:615286 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G AFG2A AFG2 AAA ATPase homolog A IAGP HPO MIM:616577 NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 IAGP HPO MIM:615829 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO MIM:300232 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 IAGP HPO MIM:271980 NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO MIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 IAGP HPO ORPHA:3006 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO MIM:300884 NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649 		JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO MIM:619031 MIM:619036 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO MIM:607906 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO MIM:608776 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP HPO MIM:617050 NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468 		JBrowse link
G ARF1 ADP ribosylation factor 1 IAGP HPO MIM:618185 NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,708...228,099,212 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO MIM:615926 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G ARX aristaless related homeobox IAGP HPO MIM:308350 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase IAGP HPO MIM:617796 NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO MIM:619606 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO MIM:300423 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G ATP9A ATPase phospholipid transporting 9A (putative) IAGP HPO MIM:620242 NCBI chr20:51,596,514...51,768,390
Ensembl chr20:51,596,514...51,768,390 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP HPO MIM:124000 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO MIM:607932 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 IAGP HPO MIM:614498 NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694 		JBrowse link
G C18orf32 chromosome 18 open reading frame 32 IAGP HPO MIM:619985 NCBI chr18:49,477,243...49,487,234
Ensembl chr18:49,477,243...49,487,252 		JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I IAGP HPO MIM:620114 NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO MIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CDC40 cell division cycle 40 IAGP HPO MIM:619302 NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275 		JBrowse link
G CDK19 cyclin dependent kinase 19 IAGP HPO MIM:618916 NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958 		JBrowse link
G CHAMP1 chromosome alignment maintaining phosphoprotein 1 IAGP HPO MIM:616579 NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO MIM:619512 MIM:619517 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO MIM:618541 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO MIM:619835 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CLTC clathrin heavy chain IAGP HPO MIM:617854 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956 		JBrowse link
G CLTCL1 clathrin heavy chain like 1 IAGP HPO ORPHA:453510 NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719 		JBrowse link
G CNOT3 CCR4-NOT transcription complex subunit 3 IAGP HPO MIM:618672 NCBI chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681 		JBrowse link
G COG3 component of oligomeric golgi complex 3 IAGP HPO MIM:620546 NCBI chr13:45,464,939...45,536,701
Ensembl chr13:45,464,898...45,536,701 		JBrowse link
G COPB2 COPI coat complex subunit beta 2 IAGP HPO MIM:617800 MIM:619884 NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:404473 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CUL3 cullin 3 IAGP HPO MIM:619239 NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP HPO MIM:600721 NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816 		JBrowse link
G DDX6 DEAD-box helicase 6 IAGP HPO MIM:618653 NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		JBrowse link
G DHX30 DExH-box helicase 30 IAGP HPO MIM:617804 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO MIM:618731 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO MIM:614388 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DOHH deoxyhypusine hydroxylase IAGP HPO MIM:620066 NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:614924 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP HPO MIM:618877 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP HPO MIM:614457 NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G EXOC8 exocyst complex component 8 IAGP HPO MIM:619076 NCBI chr 1:231,332,753...231,337,852
Ensembl chr 1:231,332,753...231,337,852 		JBrowse link
G EXOSC1 exosome component 1 IAGP HPO MIM:619304 NCBI chr10:97,435,909...97,446,006
Ensembl chr10:97,435,909...97,446,017 		JBrowse link
G EXOSC2 exosome component 2 IAGP HPO MIM:617763 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO MIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FANCB FA complementation group B IAGP HPO MIM:300514 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCL FA complementation group L IAGP HPO MIM:614083 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP HPO MIM:616154 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO MIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FCSK fucose kinase IAGP HPO MIM:618324 NCBI chr16:70,454,595...70,480,274
Ensembl chr16:70,454,595...70,480,274 		JBrowse link
G FOCAD focadhesin IAGP HPO MIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
G FOXG1 forkhead box G1 IAGP HPO MIM:613454 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FOXP1 forkhead box P1 IAGP HPO MIM:613670 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FRMD5 FERM domain containing 5 IAGP HPO MIM:620094 NCBI chr15:43,870,764...44,199,473
Ensembl chr15:43,870,761...44,195,271 		JBrowse link
G FRMPD4 FERM and PDZ domain containing 4 IAGP HPO MIM:300983 NCBI chr  X:11,822,439...12,724,523
Ensembl chr  X:11,822,423...12,724,523 		JBrowse link
G FZR1 fizzy and cell division cycle 20 related 1 IAGP HPO MIM:620145 NCBI chr19:3,506,311...3,538,334
Ensembl chr19:3,506,311...3,538,334 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO MIM:618396 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 IAGP HPO MIM:617913 NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999 		JBrowse link
G GET4 guided entry of tail-anchored proteins factor 4 IAGP HPO MIM:620200 NCBI chr 7:876,554...896,436
Ensembl chr 7:876,554...896,436 		JBrowse link
G GLS glutaminase IAGP HPO MIM:618339 NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552 		JBrowse link
G GLYCTK glycerate kinase IAGP HPO MIM:220120 NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP HPO MIM:615473 MIM:617493 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GOLGA2 golgin A2 IAGP HPO MIM:620240 NCBI chr 9:128,255,829...128,276,007
Ensembl chr 9:128,255,829...128,276,026 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP HPO MIM:619580 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO MIM:616395 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO MIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021 		JBrowse link
G HCFC1 host cell factor C1 IAGP HPO MIM:309541 NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi IAGP HPO MIM:616881 NCBI chr11:86,302,240...86,345,943
Ensembl chr11:86,302,211...86,345,943 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO MIM:620704 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C IAGP HPO MIM:620688 NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO MIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 IAGP HPO MIM:614231 NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP HPO MIM:620428 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G ITPA inosine triphosphatase IAGP HPO MIM:616647 NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870 		JBrowse link
G KCNC2 potassium voltage-gated channel subfamily C member 2 IAGP HPO MIM:619913 NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839 		JBrowse link
G KCNH5 potassium voltage-gated channel subfamily H member 5 IAGP HPO MIM:620537 NCBI chr14:62,699,464...63,045,458
Ensembl chr14:62,699,464...63,102,037 		JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 IAGP HPO MIM:619725 NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP HPO MIM:614959 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G KDM1A lysine demethylase 1A IAGP HPO MIM:616728 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO MIM:617296 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G KIF5A kinesin family member 5A IAGP HPO MIM:617235 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G LIPT1 lipoyltransferase 1 IAGP HPO MIM:616299 NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 IAGP HPO MIM:617668 NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:495818 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MADD MAP kinase activating death domain IAGP HPO MIM:619004 MIM:619005 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO MIM:617339 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G MED17 mediator complex subunit 17 IAGP HPO MIM:613668 NCBI chr11:93,784,282...93,814,963
Ensembl chr11:93,784,227...93,814,963 		JBrowse link
G MLYCD malonyl-CoA decarboxylase IAGP HPO MIM:248360 NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO MIM:251000 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO MIM:619090 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MTHFS methenyltetrahydrofolate synthetase IAGP HPO MIM:618367 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379 		JBrowse link
G NACC1 nucleus accumbens associated 1 IAGP HPO MIM:617393 NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147 		JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO MIM:616034 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 IAGP HPO MIM:620210 NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256 		JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 IAGP HPO MIM:619091 NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213 		JBrowse link
G NCDN neurochondrin IAGP HPO MIM:619373 NCBI chr 1:35,557,799...35,566,779
Ensembl chr 1:35,557,473...35,567,274 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO MIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NEUROD2 neuronal differentiation 2 IAGP HPO MIM:618374 NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO MIM:615273 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO MIM:619260 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO MIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G NRROS negative regulator of reactive oxygen species IAGP HPO MIM:618875 NCBI chr 3:196,639,694...196,662,004
Ensembl chr 3:196,639,694...196,662,004 		JBrowse link
G NUP133 nucleoporin 133 IAGP HPO MIM:618349 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
G NUP188 nucleoporin 188 IAGP HPO MIM:618804 NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO MIM:215100 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP HPO MIM:615802 NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 IAGP HPO MIM:618298 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP HPO MIM:617767 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461 		JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP HPO MIM:618143 NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794 		JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U IAGP HPO MIM:618590 NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790 		JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP HPO MIM:618821 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO MIM:617527 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G PLPBP pyridoxal phosphate binding protein IAGP HPO ORPHA:3006 NCBI chr 8:37,762,546...37,779,768
Ensembl chr 8:37,762,595...37,779,768 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO MIM:616364 ORPHA:468678 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLR2A RNA polymerase II subunit A IAGP HPO MIM:618603 NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO MIM:619742 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G POU3F3 POU class 3 homeobox 3 IAGP HPO MIM:618604 NCBI chr 2:104,854,115...104,858,574
Ensembl chr 2:104,853,287...104,858,574 		JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 IAGP HPO MIM:619301 NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803 		JBrowse link
G PPP2CA protein phosphatase 2 catalytic subunit alpha IAGP HPO MIM:618354 NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,194,035...134,226,073 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP HPO MIM:616362 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO MIM:617711 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO MIM:617157 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP HPO MIM:617481 NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713 		JBrowse link
G PURA purine rich element binding protein A IAGP HPO MIM:616158 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619 		JBrowse link
G RAB11B RAB11B, member RAS oncogene family IAGP HPO MIM:617807 NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO MIM:600118 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAP1GDS1 Rap1 GTPase-GDP dissociation stimulator 1 IAGP HPO MIM:620655 NCBI chr 4:98,261,384...98,443,858
Ensembl chr 4:98,261,384...98,443,858 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO MIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO MIM:616975 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RFX7 regulatory factor X7 IAGP HPO MIM:620330 NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 IAGP HPO MIM:618004 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509 		JBrowse link
G RNF13 ring finger protein 13 IAGP HPO MIM:618379 NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO MIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G SETD1A SET domain containing 1A, histone lysine methyltransferase IAGP HPO MIM:618832 NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,294...30,984,664 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO MIM:606232 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO MIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SLC12A5 solute carrier family 12 member 5 IAGP HPO MIM:616645 NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP HPO MIM:300523 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP HPO MIM:620603 NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
G SLC1A2 solute carrier family 1 member 2 IAGP HPO MIM:617105 NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP HPO MIM:616657 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO MIM:608885 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO MIM:300896 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO MIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 IAGP HPO MIM:616421 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO MIM:616920 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO MIM:257200 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO MIM:612164 ORPHA:495818 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TAF13 TATA-box binding protein associated factor 13 IAGP HPO MIM:617432 NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012 		JBrowse link
G TAF2 TATA-box binding protein associated factor 2 IAGP HPO MIM:615599 NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO ORPHA:352596 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO MIM:618213 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TIMM22 translocase of inner mitochondrial membrane 22 IAGP HPO MIM:618851 NCBI chr17:997,129...1,003,671
Ensembl chr17:997,129...1,003,671 		JBrowse link
G TKFC triokinase and FMN cyclase IAGP HPO MIM:618805 NCBI chr11:61,333,228...61,353,426
Ensembl chr11:61,333,220...61,353,295 		JBrowse link
G TMEM106B transmembrane protein 106B IAGP HPO MIM:617964 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367 		JBrowse link
G TMEM147 transmembrane protein 147 IAGP HPO MIM:620075 NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526 		JBrowse link
G TMEM163 transmembrane protein 163 IAGP HPO MIM:620243 NCBI chr 2:134,455,759...134,719,000
Ensembl chr 2:134,455,759...134,719,000 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP HPO MIM:607454 NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TMEM63A transmembrane protein 63A IAGP HPO MIM:618688 NCBI chr 1:225,840,556...225,882,380
Ensembl chr 1:225,845,536...225,882,380 		JBrowse link
G TNPO2 transportin 2 IAGP HPO MIM:619556 NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011 		JBrowse link
G TNR tenascin R IAGP HPO MIM:619653 NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595 		JBrowse link
G TPR translocated promoter region, nuclear basket protein IAGP HPO MIM:620393 NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693 		JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L IAGP HPO MIM:618331 NCBI chr16:88,856,220...88,862,678
Ensembl chr16:88,856,220...88,862,686 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP HPO MIM:619428 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318 		JBrowse link
G TRMT5 tRNA methyltransferase 5 IAGP HPO MIM:616539 NCBI chr14:60,971,441...60,981,690
Ensembl chr14:60,971,441...60,981,170 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP HPO MIM:616084 NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP HPO MIM:618454 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
G TXN2 thioredoxin 2 IAGP HPO MIM:616811 NCBI chr22:36,467,046...36,481,640
Ensembl chr22:36,467,046...36,481,640 		JBrowse link
G U2AF2 U2 small nuclear RNA auxiliary factor 2 IAGP HPO MIM:620535 NCBI chr19:55,655,035...55,674,716
Ensembl chr19:55,654,146...55,674,716 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP HPO MIM:617132 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP HPO MIM:618076 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase IAGP HPO MIM:618792 NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311 		JBrowse link
G UPB1 beta-ureidopropionase 1 IAGP HPO MIM:613161 NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:466934 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO MIM:617303 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G WARS1 tryptophanyl-tRNA synthetase 1 IAGP HPO MIM:620317 NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO MIM:617710 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO MIM:616211 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G YME1L1 YME1 like 1 ATPase IAGP HPO MIM:617302 NCBI chr10:27,110,111...27,154,384
Ensembl chr10:27,110,111...27,155,266 		JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO MIM:619609 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO MIM:617557 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:301041 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 IAGP HPO MIM:618659 NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP HPO MIM:617260 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		JBrowse link
G ZNF335 zinc finger protein 335 IAGP HPO MIM:615095 NCBI chr20:45,948,660...45,972,203
Ensembl chr20:45,948,660...45,972,203 		JBrowse link
G ZNF526 zinc finger protein 526 IAGP HPO MIM:619877 NCBI chr19:42,220,312...42,228,201
Ensembl chr19:42,220,292...42,228,201 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of the nervous system 28579
        Abnormal nervous system morphology 5275
          Morphological central nervous system abnormality 5160
            Abnormal CNS myelination 486
              Delayed CNS myelination 199
paths to the root