abnormality of the cerebral white matter Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the cerebral white matter. (Human Phenotype Ontology, HP_0002500)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002500
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Genes

326 genes associated with the abnormality of the cerebral white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABAT 4-aminobutyrate aminotransferase
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACO2 aconitase 2, mitochondrial
ACTB actin, beta
AHDC1 AT hook, DNA binding motif, containing 1
AHI1 Abelson helper integration site 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
AMER1 APC membrane recruitment protein 1
AMPD2 adenosine monophosphate deaminase 2
AMT aminomethyltransferase
ANKRD11 ankyrin repeat domain 11
AP4B1 adaptor-related protein complex 4, beta 1 subunit
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSA arylsulfatase A
ARX aristaless related homeobox
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
ATL1 atlastin GTPase 1
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF57 chromosome 12 open reading frame 57
C12ORF65 chromosome 12 open reading frame 65
C2CD3 C2 calcium-dependent domain containing 3
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CD96 CD96 molecule
CDON cell adhesion associated, oncogene regulated
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHMP1A charged multivesicular body protein 1A
CLIP2 CAP-GLY domain containing linker protein 2
CLP1 cleavage and polyadenylation factor I subunit 1
CNTN4 contactin 4
COG4 component of oligomeric golgi complex 4
COL4A1 collagen, type IV, alpha 1
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CRBN cereblon
CREBBP CREB binding protein
CRH corticotropin releasing hormone
CSF1R colony stimulating factor 1 receptor
CSPP1 centrosome and spindle pole associated protein 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DARS aspartyl-tRNA synthetase
DCHS1 dachsous cadherin-related 1
DCX doublecortin
DDHD2 DDHD domain containing 2
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DOCK7 dedicator of cytokinesis 7
DPYD dihydropyrimidine dehydrogenase
DPYS dihydropyrimidinase
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
EMX2 empty spiracles homeobox 2
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC6 excision repair cross-complementation group 6
ERLIN2 ER lipid raft associated 2
FA2H fatty acid 2-hydroxylase
FAM126A family with sequence similarity 126, member A
FAT4 FAT atypical cadherin 4
FBXL4 F-box and leucine-rich repeat protein 4
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FOXG1 forkhead box G1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GBA2 glucosidase, beta (bile acid) 2
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCSH glycine cleavage system protein H (aminomethyl carrier)
GDF1 growth differentiation factor 1
GFM1 G elongation factor, mitochondrial 1
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLDC glycine dehydrogenase (decarboxylating)
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLUL glutamate-ammonia ligase
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GPC3 glypican 3
GPC4 glypican 4
GPSM2 G-protein signaling modulator 2
GPX4 glutathione peroxidase 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HCCS holocytochrome c synthase
HEPACAM hepatic and glial cell adhesion molecule
HESX1 HESX homeobox 1
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIC1 hypermethylated in cancer 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HTRA1 HtrA serine peptidase 1
HYLS1 hydrolethalus syndrome 1
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
ICK intestinal cell (MAK-like) kinase
IER3IP1 immediate early response 3 interacting protein 1
IFT80 intraflagellar transport 80
IGBP1 immunoglobulin (CD79A) binding protein 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ISPD isoprenoid synthase domain containing
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNT1 potassium channel, sodium activated subfamily T, member 1
KCTD7 potassium channel tetramerization domain containing 7
KIAA2022 KIAA2022
KIF1BP KIF1 binding protein
KIF2A kinesin heavy chain member 2A
KIF5C kinesin family member 5C
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA1 laminin, alpha 1
LAMA2 laminin, alpha 2
LAMB1 laminin, beta 1
LARGE like-glycosyltransferase
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNB1 lamin B1
LRP2 low density lipoprotein receptor-related protein 2
LYRM7 LYR motif containing 7
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MID1 midline 1
MIPOL1 mirror-image polydactyly 1
MKS1 Meckel syndrome, type 1
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MLH1 mutL homolog 1
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MOGS mannosyl-oligosaccharide glucosidase
MPLKIP M-phase specific PLK1 interacting protein
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MTFMT mitochondrial methionyl-tRNA formyltransferase
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NDE1 nudE neurodevelopment protein 1
NELFA negative elongation factor complex member A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NPHP1 nephronophthisis 1 (juvenile)
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C2 5'-nucleotidase, cytosolic II
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PC pyruvate carboxylase
PCNT pericentrin
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDYN prodynorphin
PEX1 peroxisomal biogenesis factor 1
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNKP polynucleotide kinase 3'-phosphatase
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PROKR2 prokineticin receptor 2
PRRX1 paired related homeobox 1
PSAP prosaposin
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PYCR1 pyrroline-5-carboxylate reductase 1
QARS glutaminyl-tRNA synthetase
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAI1 retinoic acid induced 1
RB1 retinoblastoma 1
RBM10 RNA binding motif protein 10
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNASET2 ribonuclease T2
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTTN rotatin
SALL1 spalt-like transcription factor 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SETBP1 SET binding protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SIX3 SIX homeobox 3
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SNAP29 synaptosomal-associated protein, 29kDa
SNIP1 Smad nuclear interacting protein 1
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPG11 spastic paraplegia 11 (autosomal recessive)
SPTAN1 spectrin, alpha, non-erythrocytic 1
STAMBP STAM binding protein
STXBP1 syntaxin binding protein 1
SUMF1 sulfatase modifying factor 1
SZT2 seizure threshold 2 homolog (mouse)
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TBC1D20 TBC1 domain family, member 20
TBL2 transducin (beta)-like 2
TCF4 transcription factor 4
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TECPR2 tectonin beta-propeller repeat containing 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM165 transmembrane protein 165
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TRAPPC9 trafficking protein particle complex 9
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TUBA1A tubulin, alpha 1a
TUBB2A tubulin, beta 2A class IIa
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TYMP thymidine phosphorylase
TYR tyrosinase
TYROBP TYRO protein tyrosine kinase binding protein
UBE2A ubiquitin-conjugating enzyme E2A
UBE3B ubiquitin protein ligase E3B
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VAX1 ventral anterior homeobox 1
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDPCP WD repeat containing planar cell polarity effector
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WDR62 WD repeat domain 62
WDR81 WD repeat domain 81
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT3 wingless-type MMTV integration site family, member 3
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB18 zinc finger and BTB domain containing 18
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZFYVE26 zinc finger, FYVE domain containing 26
ZNF423 zinc finger protein 423
ZSWIM6 zinc finger, SWIM-type containing 6