Phenotype: CNS demyelination (HP:0007305)
Associated genes and diseases:
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: ERCC8
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: ERCC1
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: HTRA1
disease_id: OMIM:600142
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: PIGG
disease_id: ORPHA:488635
disease_name: Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Congenital disorder of glycosylation due to PIGG deficiency
PIGG-CDG
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: PRPS1
disease_id: ORPHA:1187
disease_name: Lethal ataxia with deafness and optic atrophy
Arts syndrome
Lethal ataxia with hearing loss and optic atrophy
gene_symbol: PYCR2
disease_id: ORPHA:481152
disease_name: PYCR2-related microcephaly-progressive leukoencephalopathy
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: L2HGDH
disease_id: OMIM:236792
disease_name: L-2-HYDROXYGLUTARIC ACIDURIA
gene_symbol: ERCC6
disease_id: OMIM:214150
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 1
gene_symbol: ACOX1
disease_id: OMIM:264470
disease_name: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: RERE
disease_id: ORPHA:494344
disease_name: RERE-related neurodevelopmental syndrome
gene_symbol: ASPA
disease_id: OMIM:271900
disease_name: CANAVAN DISEASE
gene_symbol: CSF1R
disease_id: OMIM:221820
disease_name: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS
gene_symbol: MTTP
disease_id: OMIM:200100
disease_name: ABETALIPOPROTEINEMIA
gene_symbol: TNR
disease_id: OMIM:619653
disease_name: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS
gene_symbol: ABCD1
disease_id: ORPHA:139396
disease_name: X-linked cerebral adrenoleukodystrophy
X-CALD
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: PDYN
disease_id: OMIM:610245
disease_name: SPINOCEREBELLAR ATAXIA 23
gene_symbol: MRPL39
disease_id: OMIM:620646
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59
gene_symbol: PEX19
disease_id: OMIM:614886
disease_name: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
gene_symbol: GLS
disease_id: OMIM:618328
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
gene_symbol: MAT1A
disease_id: OMIM:250850
disease_name: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
gene_symbol: PPFIBP1
disease_id: OMIM:620024
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES
gene_symbol: SUMF1
disease_id: OMIM:272200
disease_name: MULTIPLE SULFATASE DEFICIENCY
gene_symbol: ALDH3A2
disease_id: OMIM:270200
disease_name: SJOGREN-LARSSON SYNDROME
gene_symbol: EIF2B1
disease_id: OMIM:603896
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
gene_symbol: TREM2
disease_id: OMIM:618193
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
gene_symbol: PRF1
disease_id: OMIM:603553
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
gene_symbol: PSAP
disease_id: OMIM:249900
disease_name: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
gene_symbol: PSAP
disease_id: OMIM:611721
disease_name: COMBINED SAPOSIN DEFICIENCY
gene_symbol: TREX1
disease_id: OMIM:225750
disease_name: AICARDI-GOUTIERES SYNDROME 1
gene_symbol: GALC
disease_id: OMIM:245200
disease_name: KRABBE DISEASE
gene_symbol: GALC
disease_id: ORPHA:206448
disease_name: Adult Krabbe disease
gene_symbol: NDUFAF4
disease_id: OMIM:618237
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
gene_symbol: HLA-DQB1
disease_id: OMIM:126200
disease_name: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO
gene_symbol: HLA-DRB1
disease_id: OMIM:126200
disease_name: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
gene_symbol: ATXN2
disease_id: ORPHA:98756
disease_name: Spinocerebellar ataxia type 2
SCA2