Disease ID | Disease name | Source of annotation with FHL1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
300717 | REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FHL1 |
300718 | REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FHL1 |
PS310300 | EMERY-DREIFUSS MUSCULAR DYSTROPHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | SYNE1, FHL1, TMEM43, EMD, SYNE2, LMNA |
300695 | SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FHL1 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
transition metal ion binding | GO:0046914 | 2.48 |
ion binding | GO:0043167 | 1.36 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
ion channel binding | GO:0044325 | 5.02 |
metal ion binding | GO:0046872 | 1.41 |
zinc ion binding | GO:0008270 | 2.66 |