Disease ID | Disease name | Source of annotation with SIGMAR1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
605726 | SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 | ClinVar, OMIM | link to OMIM | 1 | SIGMAR1 |
PS105400 | AMYOTROPHIC LATERAL SCLEROSIS | ClinVar, OMIM, HUMSAVAR | 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 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
G-protein coupled peptide receptor activity | GO:0008528 | 4.86 |
G-protein coupled receptor activity | GO:0004930 | 2.95 |
signaling receptor activity | GO:0038023 | 2.49 |
opioid receptor activity | GO:0004985 | 7.66 |
drug binding | GO:0008144 | 5.03 |
molecular transducer activity | GO:0060089 | 2.32 |
transmembrane signaling receptor activity | GO:0004888 | 2.57 |
peptide receptor activity | GO:0001653 | 4.84 |
receptor activity | GO:0004872 | 2.32 |
signal transducer activity | GO:0004871 | 2.28 |
transmembrane receptor activity | GO:0099600 | 2.53 |
binding | GO:0005488 | 0.18 |