| Disease ID | Disease name | Source of annotation with SURF1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS |
| 256000 | LEIGH SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, FOXRED1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, SURF1, NDUFS4, NDUFA9 |
| PS601462 | MYASTHENIC SYNDROME, CONGENITAL | ClinVar | link to OMIM | 23 | LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Transcriptional Regulation by TP53 | R-HSA-3700989 | 6.73 |
| Respiratory electron transport | R-HSA-611105 | 6.44 |
| Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | R-HSA-163200 | 6.12 |
| Generic Transcription Pathway | R-HSA-212436 | 3.86 |
| The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Gene Expression | R-HSA-74160 | 2.72 |
| TP53 Regulates Metabolic Genes | R-HSA-5628897 | 6.73 |
| GO term | GO ID | GO IC |
|---|---|---|
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| inorganic cation transmembrane transporter activity | GO:0022890 | 3.49 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| transporter activity | GO:0005215 | 2.57 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| cytochrome-c oxidase activity | GO:0004129 | 6.34 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| catalytic activity | GO:0003824 | 1.05 |
| monovalent inorganic cation transmembrane transporter activity | GO:0015077 | 3.87 |
| oxidoreductase activity, acting on a heme group of donors, oxygen as acceptor | GO:0016676 | 6.34 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| oxidoreductase activity, acting on a heme group of donors | GO:0016675 | 6.3 |
| oxidoreductase activity | GO:0016491 | 3.12 |
| hydrogen ion transmembrane transporter activity | GO:0015078 | 5.01 |
| heme-copper terminal oxidase activity | GO:0015002 | 6.34 |
| electron carrier activity | GO:0009055 | 4.97 |