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:Abnormal peripheral myelination
go back to main search page
Accession:HP:0003130 term browser browse the term
Definition:An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.
Comment:This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011).
Synonyms:alt_id: HP:0003408
 xref: UMLS:C4025648


show annotations for term's descendants           Sort by:
Abnormal peripheral myelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHH desert hedgehog signaling molecule IAGP HPO ORPHA:168563 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
Basal lamina onion bulb formation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 PRX periaxin IAGP HPO MIM:614895 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO MIM:601596 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
Decreased number of large peripheral myelinated nerve fibers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin IAGP HPO MIM:208920 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP HPO MIM:223900 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO MIM:608340 ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:605285 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HSPB8 heat shock protein family B (small) member 8 IAGP HPO MIM:608673 NCBI chr12:119,178,931...119,194,746
Ensembl chr12:119,171,555...119,224,855 		JBrowse link
G LIG3 DNA ligase 3 IAGP HPO ORPHA:298 NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO MIM:617087 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MME membrane metalloendopeptidase IAGP HPO ORPHA:497764 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 		JBrowse link
G NEFL neurofilament light chain IAGP HPO ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP HPO MIM:615376 NCBI chr 1:6,467,122...6,520,092
Ensembl chr 1:6,467,122...6,520,074 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:101111 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:298 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G PRX periaxin IAGP HPO MIM:614895 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:298 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SACS sacsin molecular chaperone IAGP HPO MIM:270550 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO MIM:601596 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO MIM:162400 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO MIM:271245 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G TYMP thymidine phosphorylase IAGP HPO ORPHA:298 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
Decreased number of peripheral myelinated nerve fibers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHH desert hedgehog signaling molecule IAGP HPO MIM:607080 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		JBrowse link
G DNM2 dynamin 2 IAGP HPO MIM:606482 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP HPO MIM:614116 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G EGR2 early growth response 2 IAGP HPO MIM:145900 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167 		JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 IAGP HPO MIM:609311 NCBI chr12:32,399,558...32,646,050
Ensembl chr12:32,399,558...32,646,050 		JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 IAGP HPO ORPHA:320406 NCBI chr11:64,035,931...64,119,171
Ensembl chr11:64,035,931...64,119,173 		JBrowse link
G GAN gigaxonin IAGP HPO MIM:256850 NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,884 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO MIM:214400 MIM:607706 MIM:607831 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP HPO MIM:302800 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G JPH1 junctophilin 1 IAGP HPO MIM:607831 NCBI chr 8:74,234,700...74,321,540
Ensembl chr 8:74,234,700...74,321,540 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO MIM:201300 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO MIM:118210 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G KLC2 kinesin light chain 2 IAGP HPO ORPHA:320406 NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:605588 ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO MIM:609260 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO MIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MPZ myelin protein zero IAGP HPO MIM:118200 MIM:145900 MIM:180800 MIM:607677 MIM:618184 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO ORPHA:254930 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G NEFL neurofilament light chain IAGP HPO MIM:607734 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO MIM:118220 MIM:145900 MIM:180800 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO MIM:608703 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G PRX periaxin IAGP HPO MIM:145900 MIM:614895 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family IAGP HPO MIM:600882 NCBI chr 3:128,726,183...128,814,798
Ensembl chr 3:128,693,669...128,825,942 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:477817 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RETREG1 reticulophagy regulator 1 IAGP HPO MIM:201300 NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO MIM:604563 NCBI chr11:9,778,668...10,304,841
Ensembl chr11:9,776,776...10,304,877 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO MIM:201300 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO ORPHA:99949 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO MIM:604360 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 IAGP HPO MIM:607250 NCBI chr14:89,954,968...90,044,764
Ensembl chr14:89,954,939...90,044,764 		JBrowse link
G TFG trafficking from ER to golgi regulator IAGP HPO MIM:604484 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
G TRIM2 tripartite motif containing 2 IAGP HPO MIM:615490 NCBI chr 4:153,152,163...153,339,317
Ensembl chr 4:153,152,163...153,339,319 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO MIM:620542 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP HPO MIM:201300 NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452 		JBrowse link
Decreased number of small peripheral myelinated nerve fibers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:101097 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:98856 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G NGF nerve growth factor IAGP HPO ORPHA:64752 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO MIM:256800 ORPHA:64752 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
Delayed peripheral myelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO MIM:605039 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO ORPHA:464282 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
Irregular myelin loops term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTMR2 myotubularin related protein 2 IAGP HPO MIM:601382 NCBI chr11:95,832,880...95,924,107
Ensembl chr11:95,821,766...95,925,315 		JBrowse link
Myelin outfoldings term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZ myelin protein zero IAGP HPO MIM:118200 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MTMR2 myotubularin related protein 2 IAGP HPO MIM:601382 NCBI chr11:95,832,880...95,924,107
Ensembl chr11:95,821,766...95,925,315 		JBrowse link
G NEFL neurofilament light chain IAGP HPO MIM:607734 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO MIM:118220 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G SBF1 SET binding factor 1 IAGP HPO MIM:615284 NCBI chr22:50,445,000...50,475,035
Ensembl chr22:50,443,219...50,483,923 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO ORPHA:99956 NCBI chr11:9,778,668...10,304,841
Ensembl chr11:9,776,776...10,304,877 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO MIM:609136 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
Myelin tomacula term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGR2 early growth response 2 IAGP HPO MIM:145900 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167 		JBrowse link
G MPZ myelin protein zero IAGP HPO MIM:145900 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO MIM:145900 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PRX periaxin IAGP HPO MIM:145900 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
Onion bulb formation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP HPO MIM:614487 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 IAGP HPO MIM:608236 NCBI chr 8:1,823,300...1,958,641
Ensembl chr 8:1,823,926...1,958,641 		JBrowse link
G COX6A1 cytochrome c oxidase subunit 6A1 IAGP HPO MIM:616039 NCBI chr12:120,438,113...120,440,730
Ensembl chr12:120,438,090...120,440,737 		JBrowse link
G DCAF8 DDB1 and CUL4 associated factor 8 IAGP HPO MIM:610100 NCBI chr 1:160,215,720...160,262,549
Ensembl chr 1:160,215,715...160,262,549 		JBrowse link
G DNM2 dynamin 2 IAGP HPO MIM:606482 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G EGR2 early growth response 2 IAGP HPO MIM:145900 MIM:605253 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167 		JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 IAGP HPO MIM:609311 NCBI chr12:32,399,558...32,646,050
Ensembl chr12:32,399,558...32,646,050 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:611228 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 IAGP HPO MIM:606483 NCBI chr10:102,230,643...102,382,896
Ensembl chr10:102,245,371...102,382,899 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO MIM:214400 MIM:607706 MIM:608340 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP HPO MIM:302800 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GNB4 G protein subunit beta 4 IAGP HPO MIM:615185 NCBI chr 3:179,396,088...179,527,798
Ensembl chr 3:179,396,088...179,451,476 		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 INF2 inverted formin 2 IAGP HPO MIM:614455 NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO MIM:118210 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G LITAF lipopolysaccharide induced TNF factor IAGP HPO MIM:601098 NCBI chr16:11,547,722...11,640,317
Ensembl chr16:11,546,875...11,636,381 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:605588 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO MIM:609260 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MPZ myelin protein zero IAGP HPO MIM:118200 MIM:145900 MIM:180800 MIM:618184 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO MIM:615035 ORPHA:320375 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G NDRG1 N-myc downstream regulated 1 IAGP HPO MIM:601455 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022 		JBrowse link
G NEFL neurofilament light chain IAGP HPO MIM:607684 MIM:607734 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PMP2 peripheral myelin protein 2 IAGP HPO MIM:618279 NCBI chr 8:81,440,326...81,447,439
Ensembl chr 8:81,440,326...81,447,439 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO MIM:118220 MIM:145900 MIM:180800 ORPHA:98916 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO MIM:311070 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PRX periaxin IAGP HPO MIM:145900 MIM:614895 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G SACS sacsin molecular chaperone IAGP HPO MIM:270550 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
G SBF1 SET binding factor 1 IAGP HPO MIM:615284 NCBI chr22:50,445,000...50,475,035
Ensembl chr22:50,443,219...50,483,923 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO MIM:604563 NCBI chr11:9,778,668...10,304,841
Ensembl chr11:9,776,776...10,304,877 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO MIM:218000 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP HPO MIM:608323 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
Peripheral demyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP HPO MIM:205400 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 IAGP HPO MIM:608236 NCBI chr 8:1,823,300...1,958,641
Ensembl chr 8:1,823,926...1,958,641 		JBrowse link
G ARSA arylsulfatase A IAGP HPO MIM:250100 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G COQ7 coenzyme Q7, hydroxylase IAGP HPO MIM:616733 NCBI chr16:19,067,614...19,083,097
Ensembl chr16:19,067,614...19,080,095 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP HPO MIM:604168 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G EGR2 early growth response 2 IAGP HPO MIM:145900 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:171629 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP HPO MIM:609033 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G GALC galactosylceramidase IAGP HPO MIM:245200 ORPHA:206448 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP DNA:mutations:cds: HPO
RGD		 PMID:12499475 MIM:608340 ORPHA:101097 ORPHA:99944, RGD:1358634 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GNB4 G protein subunit beta 4 IAGP HPO MIM:615185 NCBI chr 3:179,396,088...179,527,798
Ensembl chr 3:179,396,088...179,451,476 		JBrowse link
G HK1 hexokinase 1 IAGP HPO ORPHA:99953 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G KIF1C kinesin family member 1C IAGP HPO ORPHA:397946 NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP HPO MIM:220111 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226 		JBrowse link
G MAT1A methionine adenosyltransferase 1A IAGP HPO MIM:250850 NCBI chr10:80,271,820...80,289,658
Ensembl chr10:80,271,820...80,289,658 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO MIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
G MOCS2 molybdenum cofactor synthesis 2 IAGP HPO MIM:252160 NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063 		JBrowse link
G MPZ myelin protein zero IAGP HPO MIM:118200 MIM:145900 MIM:607736 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MTTP microsomal triglyceride transfer protein IAGP HPO MIM:200100 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997 		JBrowse link
G NEFL neurofilament light chain IAGP ClinVar Annotator: match by term: Peripheral demyelination ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO MIM:614877 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO ORPHA:280234 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PMP2 peripheral myelin protein 2 IAGP HPO MIM:618279 NCBI chr 8:81,440,326...81,447,439
Ensembl chr 8:81,440,326...81,447,439 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO MIM:145900 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PRX periaxin IAGP HPO MIM:145900 MIM:614895 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G PSAP prosaposin IAGP HPO MIM:249900 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO MIM:609136 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO MIM:272200 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO MIM:616684 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO MIM:221770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295 		JBrowse link
G UBTF upstream binding transcription factor IAGP HPO MIM:617672 NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626 		JBrowse link
Peripheral dysmyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G MPZ myelin protein zero IAGP HPO ORPHA:101082 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP HPO MIM:260565 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310 		JBrowse link
Peripheral hypomyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY6 adenylate cyclase 6 IAGP HPO MIM:616287 NCBI chr12:48,766,194...48,789,974
Ensembl chr12:48,766,194...48,789,089 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP HPO MIM:604168 ORPHA:48431 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G DHX16 DEAH-box helicase 16 IAGP HPO MIM:618733 NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006 		JBrowse link
G EGR2 early growth response 2 IAGP HPO MIM:605253 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167 		JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 IAGP HPO MIM:609311 NCBI chr12:32,399,558...32,646,050
Ensembl chr12:32,399,558...32,646,050 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:611228 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:605285 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO MIM:612780 ORPHA:199343 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO MIM:609136 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
Segmental peripheral demyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 IAGP HPO MIM:606482 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 IAGP HPO MIM:606483 NCBI chr10:102,230,643...102,382,896
Ensembl chr10:102,245,371...102,382,899 		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 SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO MIM:601596 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
Segmental peripheral demyelination/remyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 IAGP HPO MIM:606482 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G EGR2 early growth response 2 IAGP HPO MIM:145900 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167 		JBrowse link
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 IAGP HPO MIM:606483 NCBI chr10:102,230,643...102,382,896
Ensembl chr10:102,245,371...102,382,899 		JBrowse link
G LITAF lipopolysaccharide induced TNF factor IAGP HPO MIM:601098 NCBI chr16:11,547,722...11,640,317
Ensembl chr16:11,546,875...11,636,381 		JBrowse link
G MPZ myelin protein zero IAGP HPO MIM:145900 MIM:180800 MIM:607791 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:255210 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:255210 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO ORPHA:255210 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP HPO ORPHA:255210 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:255210 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:255210 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:255210 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:255210 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:255210 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP HPO ORPHA:255210 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:255210 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G NDRG1 N-myc downstream regulated 1 IAGP HPO MIM:601455 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022 		JBrowse link
G NEFL neurofilament light chain IAGP HPO MIM:607734 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO MIM:118220 MIM:145900 MIM:162500 MIM:180800 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO MIM:311070 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PRX periaxin IAGP HPO MIM:145900 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G SBF2 SET binding factor 2 IAGP HPO MIM:604563 NCBI chr11:9,778,668...10,304,841
Ensembl chr11:9,776,776...10,304,877 		JBrowse link
Symmetric peripheral demyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNB1 lamin B1 IAGP HPO MIM:169500 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
Symmetrical progressive peripheral demyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCDH glutaryl-CoA dehydrogenase IAGP HPO MIM:231670 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the nervous system 28558
        Abnormal nervous system morphology 5272
          Abnormal myelination 697
            Abnormal peripheral myelination 112
              Decreased number of peripheral myelinated nerve fibers + 50
              Delayed peripheral myelination 2
              Onion bulb formation + 32
              Peripheral amyelination 0
              Peripheral demyelination + 53
              Peripheral dysmyelination 4
              Peripheral hypermyelination + 9
              Peripheral hypomyelination 9
paths to the root