abnormality of the periventricular white matter Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002518
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Genes

19 genes associated with the abnormality of the periventricular 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
AP4B1 adaptor-related protein complex 4, beta 1 subunit
ARHGAP31 Rho GTPase activating protein 31
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DDHD2 DDHD domain containing 2
FA2H fatty acid 2-hydroxylase
GLUL glutamate-ammonia ligase
LAMA1 laminin, alpha 1
LARGE like-glycosyltransferase
MEF2C myocyte enhancer factor 2C
OCRL oculocerebrorenal syndrome of Lowe
PC pyruvate carboxylase
PSAP prosaposin
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SHANK3 SH3 and multiple ankyrin repeat domains 3
SPG11 spastic paraplegia 11 (autosomal recessive)
SUMF1 sulfatase modifying factor 1
TREX1 three prime repair exonuclease 1
TSEN54 TSEN54 tRNA splicing endonuclease subunit