Gene table of SPG11 : spastic paraplegia 11 (autosomal recessive)

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SPG11	OMIM link	Number of associated genes	genes
PS118220	CHARCOT-MARIE-TOOTH DISEASE	ClinVar, OMIM	link to OMIM	48	KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, RAB7A, LMNA, VCP, GDAP1, AIFM1, MORC2, SH3TC2, SPG11, JPH1, PLEKHG5, NEFH, NAGLU, MTMR2, HARS, HSPB8, HSPB1, PMP22, MED25, TRIM2, SBF1, DYNC1H1, MFN2, DNM2, NDRG1, MARS, SBF2, IGHMBP2, NEFL, EGR2, AARS, COX6A1, PDK3, DHTKD1, HK1, GJB1, LRSAM1, PRX, TRPV4, LITAF, SURF1, YARS, GARS
PS105400	AMYOTROPHIC LATERAL SCLEROSIS	ClinVar, OMIM	link to OMIM	27	CHCHD10, FIG4, ERBB4, SQSTM1, ATXN2, UBQLN2, DCTN1, FUS, NEFH, PFN1, VAPB, MATR3, ALS2, TBK1, SPG11, TARDBP, TUBA4A, SIGMAR1, SOD1, CHMP2B, PRPH, ANG, VCP, OPTN, C9orf72, HNRNPA1, SETX
PS303350	SPASTIC PARAPLEGIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	47	KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, PLP1, ARL6IP1, CYP7B1, AP4E1, KIF1A, AMPD2, SPAST, SPG20, ERLIN2, AP4S1, HSPD1, AP4M1, RTN2, ALDH18A1, REEP1, SPG21, TECPR2, BSCL2, TFG, PNPLA6, SPG7, VPS37A, 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
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46