abnormal myelination Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. (Human Phenotype Ontology, HP_0012447)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012447
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Genes

182 genes associated with the abnormal myelination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACY1 aminoacylase 1
ADAR adenosine deaminase, RNA-specific
ADGRG1 adhesion G protein-coupled receptor G1
ADSL adenylosuccinate lyase
AHDC1 AT hook, DNA binding motif, containing 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
APTX aprataxin
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSA arylsulfatase A
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPA aspartoacylase
ASXL1 additional sex combs like transcriptional regulator 1
ATP7B ATPase, Cu++ transporting, beta polypeptide
BAG3 BCL2-associated athanogene 3
BCAP31 B-cell receptor-associated protein 31
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BMP4 bone morphogenetic protein 4
C12ORF65 chromosome 12 open reading frame 65
CLP1 cleavage and polyadenylation factor I subunit 1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX7B cytochrome c oxidase subunit VIIb
CSF1R colony stimulating factor 1 receptor
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DARS aspartyl-tRNA synthetase
DCAF8 DDB1 and CUL4 associated factor 8
DHFR dihydrofolate reductase
DHH desert hedgehog
DNM2 dynamin 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
EDNRB endothelin receptor type B
EGR2 early growth response 2
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELOVL4 ELOVL fatty acid elongase 4
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FA2H fatty acid 2-hydroxylase
FAM126A family with sequence similarity 126, member A
FBXL4 F-box and leucine-rich repeat protein 4
FGD4 FYVE, RhoGEF and PH domain containing 4
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXG1 forkhead box G1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GAA glucosidase, alpha; acid
GALC galactosylceramidase
GAN gigaxonin
GCDH glutaryl-CoA dehydrogenase
GDAP1 ganglioside induced differentiation associated protein 1
GFAP glial fibrillary acidic protein
GFM1 G elongation factor, mitochondrial 1
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLUL glutamate-ammonia ligase
GLYCTK glycerate kinase
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
HK1 hexokinase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPB8 heat shock 22kDa protein 8
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTRA1 HtrA serine peptidase 1
IDUA iduronidase, alpha-L-
IER3IP1 immediate early response 3 interacting protein 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INF2 inverted formin, FH2 and WH2 domain containing
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KIF1B kinesin family member 1B
L2HGDH L-2-hydroxyglutarate dehydrogenase
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LMNB1 lamin B1
LRPPRC leucine-rich pentatricopeptide repeat containing
MANBA mannosidase, beta A, lysosomal
MAT1A methionine adenosyltransferase I, alpha
MCOLN1 mucolipin 1
MFN2 mitofusin 2
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MRPS22 mitochondrial ribosomal protein S22
MTMR2 myotubularin related protein 2
MTTP microsomal triglyceride transfer protein
MUT methylmalonyl CoA mutase
NDRG1 N-myc downstream regulated 1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEFL neurofilament, light polypeptide
NGLY1 N-glycanase 1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUBPL nucleotide binding protein-like
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDYN prodynorphin
PEX1 peroxisomal biogenesis factor 1
PEX13 peroxisomal biogenesis factor 13
PEX19 peroxisomal biogenesis factor 19
PEX7 peroxisomal biogenesis factor 7
PHGDH phosphoglycerate dehydrogenase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PSAP prosaposin
QARS glutaminyl-tRNA synthetase
RAB7A RAB7A, member RAS oncogene family
RBM8A RNA binding motif protein 8A
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNASEH2A ribonuclease H2, subunit A
RNASET2 ribonuclease T2
SACS sacsin molecular chaperone
SAMHD1 SAM domain and HD domain 1
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SNIP1 Smad nuclear interacting protein 1
SOX10 SRY (sex determining region Y)-box 10
SPG11 spastic paraplegia 11 (autosomal recessive)
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
STAMBP STAM binding protein
STXBP1 syntaxin binding protein 1
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TBC1D24 TBC1 domain family, member 24
TFG TRK-fused gene
TREM2 triggering receptor expressed on myeloid cells 2
TRIM2 tripartite motif containing 2
TUBB4A tubulin, beta 4A class IVa
TYROBP TYRO protein tyrosine kinase binding protein
UPB1 ureidopropionase, beta
WNK1 WNK lysine deficient protein kinase 1
ZC4H2 zinc finger, C4H2 domain containing
ZNF335 zinc finger protein 335