Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| IBA57 homolog, iron-sulfur cluster assembly (M) | |  * Spastic paraplegia 74, autosomal recessive - SPG74 (15.64)
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Immunoglobulin mu binding protein 2 | | * Spinal muscular atrophy with respiratory distress - SMARD1 (12.5, 14.91)
* Autosomal recessive CMT axonal type 2S - CMT2S (12.5, 14.91)
| Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-as | | * Neuropathy, hereditary sensory and autonomic, type III - HSAN3 (14.108, 17.3)
* Familial dysautonomia (Riley-Day syndrome) - (14.108, 17.3)
| Inositol 1,4,5-triphosphate receptor type 1 | | * Spinocerebellar ataxia 15 - SCA15 (13.14)
| Inositol 1,4,5-triphosphate receptor, type 3 | | * Charcot-Marie-Tooth neuropathy - (14.11)
| Inositol Polyphosphate-5-Phosphatase K | | * Muscular dystrophy, congenital, with cataracts and intellectual disability - MDCCAID (2.49)
| Integrin alpha 7 precursor | | * Congenital muscular dystrophy with integrin defect - (2.14)
* Muscular dystrophy, congenital, due to ITGA7 deficiency - (2.14)
| Integrin-linked kinase | | * Dilated cardiomyopathy related to integrin-linked kinase - ILK (10.79)
| Interferon-related developmental regulator 1 | | * Spinocerebellar ataxia 18 - SCA18 (13.16)
| Inverted formin 2 | | * Charcot-Marie-Tooth neuropathy with glomerulopathy - CMTDIE (14.18)
| Iron-sulfur cluster scaffold homolog (E. coli)(M) | | * myopathy with deficiency of succinate dehydrogenase and aconitase - (5.39)
* myopathy with lactic acidosis, hereditary - HML (5.39)
* myopathy with exercise intolerance, swedish type - (5.39)
| Isoprenoid synthase domain containing | | * Walker-Warburg syndrome - WWS
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA7
| Isoprenoid synthase domain containing protein | | * Walker-Warburg syndrome (WWS) - MDDGA7 (1.48, 2.25)
* LGMDR20 - LGMDR20 (1.48, 2.25)
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