Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HYPOMYELINATING LEUKODYSTROPHY 21	C5543334	POLR3K	Unknown	—	Disgenet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
HYPOMYELINATING LEUKODYSTROPHY 24	C5676974	ATP11A	Unknown	—	Disgenet	Efferocytosis Neutrophil degranulation Ion transport by P-type ATPases
HYPOMYELINATING LEUKODYSTROPHY 5	MONDO:0012514	HYCC1	Unknown	17928815 16951682	ClinGen, GWAS catalog	—
HYPOMYELINATING LEUKODYSTROPHY 6	MONDO:0012905	UFM1	Unknown	28931644	Disgenet	—
HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME	137639	POLR3A	Unknown	27506977	Orphanet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
LEUKODYSTROPHY, HYPOMYELINATING	C2677112	POLR1A	Unknown	—	Disgenet	RNA polymerase B-WICH complex positively regulates rRNA expression RNA Polymerase I Transcription Initiation +2 more
LEUKODYSTROPHY, HYPOMYELINATING, 10	616420 OMIM:616420	PYCR2	Unknown	—	CTD, HPO	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
LEUKODYSTROPHY, HYPOMYELINATING, 11	616494 C4225305 OMIM:616494	POLR1C	Unknown	—	CTD, Disgenet, HPO	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +7 more
LEUKODYSTROPHY, HYPOMYELINATING, 12	616683 C4225247 OMIM:616683	VPS11	Unknown	—	CTD, Disgenet, HPO	Autophagy - animal Efferocytosis Salmonella infection
LEUKODYSTROPHY, HYPOMYELINATING, 13	616881 C4225170 OMIM:616881	HIKESHI	Unknown	—	CTD, Disgenet, HPO	Regulation of HSF1-mediated heat shock response
LEUKODYSTROPHY, HYPOMYELINATING, 17	C4693912	EIF2AK1	Unknown	—	Disgenet	Hepatitis C Measles Herpes simplex virus 1 infection
LEUKODYSTROPHY, HYPOMYELINATING, 2	C1837355 608804 MESH:C563855	GCDH	Unknown	—	Disgenet	Fatty acid degradation Lysine degradation Tryptophan metabolism +2 more
		GJC2	Unknown	18571143	CTD, Disgenet, HPO	Gap junction assembly
		SNAP29	Unknown	—	Disgenet	SNARE interactions in vesicular transport Autophagy - animal Neutrophil degranulation +1 more
LEUKODYSTROPHY, HYPOMYELINATING, 27	620675 C5882743 MONDO:0958018	POLR1A	Unknown	—	ClinVar, Disgenet, GenCC, HPO	RNA polymerase B-WICH complex positively regulates rRNA expression RNA Polymerase I Transcription Initiation +2 more
LEUKODYSTROPHY, HYPOMYELINATING, 28	620978 MONDO:0975833	MAL	Unknown	—	ClinVar, HPO	—
LEUKODYSTROPHY, HYPOMYELINATING, 3	260600 OMIM:260600	AIMP1	Unknown	—	CTD, HPO	Cytosolic tRNA aminoacylation
LEUKODYSTROPHY, HYPOMYELINATING, 4	612233 C2677109 MESH:C567390	HSPD1	Unknown	18571143	CTD, Disgenet, HPO	RNA degradation Type I diabetes mellitus Legionellosis +4 more
LEUKODYSTROPHY, HYPOMYELINATING, 4	612233 C2677109 MESH:C567390	POLR3A	Unknown	—	Disgenet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
LEUKODYSTROPHY, HYPOMYELINATING, 5	610532 MESH:C567166	HYCC1	Unknown	—	CTD, HPO	—
LEUKODYSTROPHY, HYPOMYELINATING, 6	612438 C2676244	TUBB4A	Unknown	—	Disgenet, HPO	Phagosome Gap junction Motor proteins +37 more
LEUKODYSTROPHY, HYPOMYELINATING, 6	612438 C2676244	UFM1	Unknown	—	Disgenet	—
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM	614381 C3280644	POLR3B	Unknown	—	Disgenet, HPO	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
LEUKODYSTROPHY, HYPOMYELINATING, 9	616140 OMIM:616140	RARS1	Unknown	—	CTD, HPO	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
LEUKODYSTROPHY, HYPOMYELINATING, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM	C2676243 MESH:C567313	POLR1C	Unknown	—	Disgenet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +7 more
		POLR3A	Unknown	—	CTD, Disgenet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
		POLR3B	Unknown	—	CTD, Disgenet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY	466934 C5568878	VPS11	Unknown	26307567	Disgenet, Orphanet	Autophagy - animal Efferocytosis Salmonella infection
VPS11-RELATED NEUROLOGICAL DISORDER	MONDO:0100617	VPS11	Unknown	26307567 27120463 27473128 29945969 33452836 33874780 34667996 35241734	ClinGen, GWAS catalog	Autophagy - animal Efferocytosis Salmonella infection

Hypomyelinating leukodystrophy

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