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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:CNS hypomyelination
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Accession:HP:0003429 term browser browse the term
Definition:Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
Synonyms:xref: SNOMEDCT_US:111007000;   UMLS:C0544820;   UMLS:C4025616


show annotations for term's descendants           Sort by:
CNS hypomyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO MIM:616339 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ACBD5 acyl-CoA binding domain containing 5 IAGP HPO MIM:618863 NCBI chr10:27,182,838...27,242,111
Ensembl chr10:27,168,135...27,243,046 		JBrowse link
G ADSL adenylosuccinate lyase IAGP HPO MIM:103050 NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463 		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 AHCY adenosylhomocysteinase IAGP HPO ORPHA:88618 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO ORPHA:300605 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP ClinVar Annotator: match by term: CNS hypomyelination ClinVar PMID:24700674 PMID:25558065 PMID:25741868 PMID:32979048 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO MIM:618012 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP HPO ORPHA:369939 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO MIM:615948 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G C2orf69 chromosome 2 open reading frame 69 IAGP HPO MIM:619423 NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935 		JBrowse link
G CHKA choline kinase alpha IAGP HPO MIM:620023 NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444 		JBrowse link
G CLDN11 claudin 11 IAGP HPO MIM:619328 NCBI chr 3:170,418,868...170,434,691
Ensembl chr 3:170,418,868...170,454,733 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:618186 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP HPO MIM:618910 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 IAGP HPO MIM:615281 NCBI chr 2:135,905,881...135,985,684
Ensembl chr 2:135,905,881...135,986,100 		JBrowse link
G DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit IAGP HPO ORPHA:300536 NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:86309 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:268261 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G ELOVL1 ELOVL fatty acid elongase 1 IAGP HPO MIM:618527 NCBI chr 1:43,363,401...43,368,011
Ensembl chr 1:43,363,398...43,368,074 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP HPO MIM:617951 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530 		JBrowse link
G EXOC2 exocyst complex component 2 IAGP HPO MIM:619306 NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139 		JBrowse link
G EXOSC5 exosome component 5 IAGP HPO MIM:619576 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO MIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:300605 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 IAGP HPO MIM:618557 NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP HPO MIM:618559 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208 		JBrowse link
G GAN gigaxonin IAGP HPO ORPHA:643 NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,809 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO MIM:214400 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GJC2 gap junction protein gamma 2 IAGP HPO MIM:613206 ORPHA:320401 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
G GLUL glutamate-ammonia ligase IAGP HPO MIM:610015 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206 		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 GRM7 glutamate metabotropic receptor 7 IAGP ClinVar Annotator: match by term: CNS hypomyelination HPO
ClinVar		 MIM:618922 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO MIM:268800 ORPHA:309155 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G HYCC1 hyccin PI4KA lipid kinase complex subunit 1 IAGP HPO MIM:610532 NCBI chr 7:22,895,843...23,014,130
Ensembl chr 7:22,889,371...23,014,130 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO MIM:617926 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 IAGP HPO MIM:619322 NCBI chr 6:33,771,213...33,789,130
Ensembl chr 6:33,771,202...33,789,130 		JBrowse link
G MED27 mediator complex subunit 27 IAGP HPO MIM:619286 NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867 		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 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616239 NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194 		JBrowse link
G NKX6-2 NK6 homeobox 2 IAGP HPO MIM:617560 ORPHA:527497 NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147 		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 NOP10 NOP10 ribonucleoprotein IAGP HPO MIM:620425 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:618437 NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO MIM:614883 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO MIM:619708 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO MIM:312080 ORPHA:280224 ORPHA:280229 ORPHA:280234 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:620675 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO MIM:616494 ORPHA:88637 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:607694 ORPHA:3455 ORPHA:447896 ORPHA:88637 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO MIM:607694 MIM:614381 ORPHA:88637 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit IAGP HPO MIM:615966 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178 		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 PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO MIM:616420 ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 IAGP HPO MIM:615760 NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130 		JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog IAGP HPO MIM:614922 NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158 		JBrowse link
G RNF220 ring finger protein 220 IAGP HPO MIM:619688 NCBI chr 1:44,404,783...44,651,724
Ensembl chr 1:44,405,194...44,651,723 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO ORPHA:300605 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP HPO MIM:614482 NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456 		JBrowse link
G SMPD4 sphingomyelin phosphodiesterase 4 IAGP HPO MIM:618622 NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750 		JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP HPO MIM:614501 NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:300605 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP HPO MIM:613477 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:300605 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G STAMBP STAM binding protein IAGP HPO MIM:614261 NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO MIM:617193 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TIAM1 TIAM Rac1 associated GEF 1 IAGP HPO MIM:619908 NCBI chr21:31,118,418...31,559,087
Ensembl chr21:31,118,416...31,559,977 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO MIM:615356 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
G YIF1B Yip1 interacting factor homolog B, membrane trafficking protein IAGP HPO MIM:619125 NCBI chr19:38,303,558...38,321,887
Ensembl chr19:38,303,558...38,317,273 		JBrowse link
Cerebral hypomyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSL adenylosuccinate lyase IAGP HPO MIM:103050 NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463 		JBrowse link
G AFG2A AFG2 AAA ATPase homolog A IAGP HPO ORPHA:457351 NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO ORPHA:79326 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP HPO MIM:300475 ORPHA:369939 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G CYB5A cytochrome b5 type A IAGP HPO ORPHA:621 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973 		JBrowse link
G CYB5R3 cytochrome b5 reductase 3 IAGP HPO ORPHA:621 NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870 		JBrowse link
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha IAGP HPO MIM:603896 NCBI chr12:123,620,406...123,633,686
Ensembl chr12:123,620,406...123,633,766 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ClinVar Annotator: match by term: Cerebral hypomyelination ClinVar PMID:25741868 PMID:30740813 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G GJC2 gap junction protein gamma 2 IAGP HPO MIM:608804 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
G HYCC1 hyccin PI4KA lipid kinase complex subunit 1 IAGP HPO ORPHA:85163 NCBI chr 7:22,895,843...23,014,130
Ensembl chr 7:22,889,371...23,014,130 		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 PGAP2 post-GPI attachment to proteins 2 IAGP HPO ORPHA:247262 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP HPO ORPHA:247262 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO ORPHA:79351 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:247262 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP HPO ORPHA:247262 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO ORPHA:247262 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP HPO ORPHA:247262 NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO ORPHA:247262 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO ORPHA:280210 ORPHA:280219 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO MIM:614381 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G RARS1 arginyl-tRNA synthetase 1 IAGP HPO ORPHA:438114 NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301 		JBrowse link
G RUBCN rubicon autophagy regulator IAGP ClinVar Annotator: match by term: Hypomyelination of the brain ClinVar NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP HPO ORPHA:447997 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 IAGP HPO MIM:612949 NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO MIM:611584 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO MIM:612164 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO ORPHA:496641 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP HPO MIM:617255 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Cerebral hypomyelination HPO
ClinVar		 PMID:24785942 PMID:25741868 PMID:32581362 MIM:612438 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO MIM:616683 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G WDR26 WD repeat domain 26 IAGP HPO ORPHA:513456 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of the nervous system 28524
        Abnormal nervous system morphology 5271
          Abnormal myelination 697
            Abnormal CNS myelination 486
              CNS hypomyelination 94
                Cerebral hypomyelination 32
                Spinal hypomyelination 0
paths to the root