Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HYPOMYELINATING LEUKODYSTROPHY 10	MONDO:0014632	PYCR2	Causal	25865492 27130255 27860360 28496993 31918782	ClinVar	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
HYPOMYELINATING LEUKODYSTROPHY 11	MONDO:0014666	POLR1C	Causal	—	ClinVar, GenCC	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +7 more
HYPOMYELINATING LEUKODYSTROPHY 12	MONDO:0014732	VPS11	Causal	26307567 27120463 27473128	ClinVar, GWAS catalog	Autophagy - animal Efferocytosis Salmonella infection
HYPOMYELINATING LEUKODYSTROPHY 13	MONDO:0014813	HIKESHI	Causal	26545878 28000699 31912665 34111619 37865085 38922739	ClinGen, ClinVar, GWAS catalog	Regulation of HSF1-mediated heat shock response
HYPOMYELINATING LEUKODYSTROPHY 2	MONDO:0012125	GJC2	Causal	15192806 18094336 8733901 16969684 19056803	ClinGen, ClinVar, Disgenet	Gap junction assembly
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 3	MONDO:0009843	AIMP1	Causal	19717447 21092922 24958424 30477741 30486714 31618474 36368352 36652953	ClinGen, ClinVar	Cytosolic tRNA aminoacylation
HYPOMYELINATING LEUKODYSTROPHY 4	MONDO:0012824	HSPD1	Causal	18571142 18571143 19706612 25957474 27405012	CTD, ClinVar	RNA degradation Type I diabetes mellitus Legionellosis +4 more
HYPOMYELINATING LEUKODYSTROPHY 5	MONDO:0012514	HYCC1	Unknown	17928815 16951682	ClinGen, GWAS catalog	—
HYPOMYELINATING LEUKODYSTROPHY 6	MONDO:0012905	TUBB4A	Causal	23424103 23582646 24742798 25545912 28393430 32463361	ClinVar, GWAS catalog	Phagosome Gap junction Motor proteins +37 more
HYPOMYELINATING LEUKODYSTROPHY 6	MONDO:0012905	UFM1	Unknown	28931644	Disgenet	—
HYPOMYELINATING LEUKODYSTROPHY 8 WITH OR WITHOUT OLIGODONTIA AND-OR HYPOGONADOTROPIC HYPOGONADISM	MONDO:0013722	POLR3B	Causal	—	ClinVar, GenCC	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
HYPOMYELINATING LEUKODYSTROPHY 9	MONDO:0014506	RARS1	Causal	31814314 28905880	ClinVar, GWAS catalog	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
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, 14	617899 C4693535 MONDO:0033486	UFM1	Causal	29868776	ClinVar, Disgenet, HPO, Orphanet	—
LEUKODYSTROPHY, HYPOMYELINATING, 15	617951 C4693733 MONDO:0054782	EPRS1	Causal	29576217	ClinVar, Disgenet, GWAS catalog, HPO	Porphyrin metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +2 more
LEUKODYSTROPHY, HYPOMYELINATING, 16	617964 C4693779 MONDO:0054791	TMEM106B	Causal	24357581 27543298 28728022 29186371 29444210 30643851	ClinGen, ClinVar, Disgenet, HPO	—
LEUKODYSTROPHY, HYPOMYELINATING, 17	618006 C4693912 MONDO:0054817	AIMP2	Causal	26795593 29022589 29215095	ClinGen, ClinVar, Disgenet, HPO	Cytosolic tRNA aminoacylation
LEUKODYSTROPHY, HYPOMYELINATING, 17	618006 C4693912 MONDO:0054817	EIF2AK1	Unknown	—	Disgenet	Hepatitis C Measles Herpes simplex virus 1 infection
LEUKODYSTROPHY, HYPOMYELINATING, 18	618404 C5193078 MONDO:0032730	DEGS1	Causal	30620337 31186544	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +2 more
LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE	618688 C5231463 MONDO:0032871	TMEM63A	Causal	23999434 31587869	ClinVar, Disgenet, HPO	Neutrophil degranulation
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, 20	619071 C5436730 MONDO:0033657	CNP	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
LEUKODYSTROPHY, HYPOMYELINATING, 21	619310 MONDO:0030263	POLR3K	Causal	30584594	ClinGen, ClinVar, GWAS catalog, HPO	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
LEUKODYSTROPHY, HYPOMYELINATING, 22	619328 C5543406 MONDO:0025701	CLDN11	Causal	33313762	ClinVar, Disgenet, HPO	Virion - Hepatitis viruses Cell adhesion molecules Tight junction +3 more
LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY	619688 C5562074 MONDO:0030514	RNF220	Causal	33964137	ClinVar, Disgenet, GWAS catalog, HPO	Antigen processing: Ubiquitination & Proteasome degradation
LEUKODYSTROPHY, HYPOMYELINATING, 24	619851 MONDO:0859242	ATP11A	Causal	—	ClinVar, GenCC, HPO	Efferocytosis Neutrophil degranulation Ion transport by P-type ATPases
LEUKODYSTROPHY, HYPOMYELINATING, 25	620243 C5830275 MONDO:0859378	TMEM163	Causal	35455965 35953447	ClinVar, Disgenet, GWAS catalog, HPO	—
LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA	620269 C5830312 MONDO:0859518	SLC35B2	Causal	35325049	ClinVar, Disgenet, GWAS catalog, HPO	Transport and synthesis of PAPS Transport of nucleotide sugars
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, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM	607694 MONDO:0011897	POLR3A	Causal	21855841 23355746 25339210	HPO	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
	607694 MONDO:0011897	POLR3B	Causal	—	HPO	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
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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