Gene table of PLP1 : proteolipid protein 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PLP1	OMIM link	Number of associated genes	genes
PS312080	LEUKODYSTROPHY, HYPOMYELINATING	ClinVar, OMIM, HUMSAVAR	link to OMIM	13	PYCR2, POLR3B, HIKESHI, AIMP1, GJC2, POLR3A, VPS11, PLP1, HSPD1, POLR1C, FAM126A, RARS, TUBB4A
PS303350	SPASTIC PARAPLEGIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	47	KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ARL6IP1, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, VPS37A, L1CAM, TFG, RTN2, CYP7B1, ERLIN2, KIF1A, AP4M1, AMPD2, SPAST, SPG20, AP4S1, HSPD1, SPG21, PLP1, REEP1, ALDH18A1, TECPR2, BSCL2, PNPLA6, SPG7, CYP2U1, NT5C2, NIPA1, DDHD1, CPT1C, ZFYVE27, AP4B1, FA2H

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
structural constituent of myelin sheath	GO:0019911	8.13
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
structural molecule activity	GO:0005198	3.1