Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
IBA57IBA57 homolog, iron-sulfur cluster assembly (M)      | 1q42.13 | * Spastic paraplegia 74, autosomal recessive - SPG74 (15.67)
|
IFRD1Interferon-related developmental regulator 1 | 7q31.1 | * Spinocerebellar ataxia 18 - SCA18 (13.16)
|
IGHMBP2Immunoglobulin mu binding protein 2 | 11q13.2-q13.4 | * Spinal muscular atrophy with respiratory distress - SMARD1 (12.13, 14.94)
* Autosomal recessive CMT axonal type 2S - CMT2S (12.13, 14.94)
|
ILKIntegrin-linked kinase | 11p15.5-p15.4 | * Dilated cardiomyopathy related to integrin-linked kinase - ILK (10.80)
|
| 14q32-33 | * Charcot-Marie-Tooth neuropathy with glomerulopathy - CMTDIE (14.19)
|
INPP5KInositol Polyphosphate-5-Phosphatase K | 17p13.3 | * Muscular dystrophy, congenital, with cataracts and intellectual disability - MDCCAID (2.48)
|
ISCUIron-sulfur cluster scaffold homolog (E. coli)(M) | 12q24.1 | * myopathy with exercise intolerance, swedish type - (5.38)
* myopathy with deficiency of succinate dehydrogenase and aconitase - (5.38)
* myopathy with lactic acidosis, hereditary - HML (5.38)
|
ISPDIsoprenoid synthase domain containing | 7p21.2 | * Walker-Warburg syndrome - WWS
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA7
|
ITGA7Integrin alpha 7 precursor | 12q13 | * Congenital muscular dystrophy with integrin defect - (2.14)
* Muscular dystrophy, congenital, due to ITGA7 deficiency - (2.14)
|
ITPR1Inositol 1,4,5-triphosphate receptor type 1 | 3p26.1 | * Spinocerebellar ataxia 15 - SCA15 (13.14)
|
ITPR3Inositol 1,4,5-triphosphate receptor, type 3 | 6q21.31 | * Charcot-Marie-Tooth neuropathy - (14.13)
|