Gene product table
Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| IBA57 homolog, iron-sulfur cluster assembly (M) | IBA57 (1q42.13)     
| * Spastic paraplegia 74, autosomal recessive - SPG74 (15.64) |
| Immunoglobulin mu binding protein 2 | IGHMBP2 (11q13.2-q13.4)
| * 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 | ELP1 (9q31.3)
| * 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 | ITPR1 (3p26.1)
| * Spinocerebellar ataxia 15 - SCA15 (13.14) |
| Inositol 1,4,5-triphosphate receptor, type 3 | ITPR3 (6q21.31)
| * Charcot-Marie-Tooth neuropathy - (14.11) |
| Inositol Polyphosphate-5-Phosphatase K | INPP5K (17p13.3)
| * Muscular dystrophy, congenital, with cataracts and intellectual disability - MDCCAID (2.49) |
| Integrin alpha 7 precursor | ITGA7 (12q13)
| * Congenital muscular dystrophy with integrin defect - (2.14)* Muscular dystrophy, congenital, due to ITGA7 deficiency - (2.14) |
| Integrin-linked kinase | ILK (11p15.5-p15.4)
| * Dilated cardiomyopathy related to integrin-linked kinase - ILK (10.79) |
| Interferon-related developmental regulator 1 | IFRD1 (7q31.1)
| * Spinocerebellar ataxia 18 - SCA18 (13.16) |
| Inverted formin 2 | INF2 (14q32-33)
| * Charcot-Marie-Tooth neuropathy with glomerulopathy - CMTDIE (14.18) |
| Iron-sulfur cluster scaffold homolog (E. coli)(M) | ISCU (12q24.1)
| * 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 | ISPD (7p21.2)
| * Walker-Warburg syndrome - WWS* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA7 |
| Isoprenoid synthase domain containing protein | CRPPA (7p21.2-p21.1)
| * Walker-Warburg syndrome (WWS) - MDDGA7 (1.48, 2.25)* LGMDR20 - LGMDR20 (1.48, 2.25) |
