Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

IBA57
IBA57 homolog, iron-sulfur cluster assembly (M)



1q42.13
* Spastic paraplegia 74, autosomal recessive - SPG74 (15.57)

IFRD1
Interferon-related developmental regulator 1



7q31.1
* Spinocerebellar ataxia 18 - SCA18 (13.16)

IGHMBP2
Immunoglobulin mu binding protein 2



11q13.2-q13.4
* Spinal muscular atrophy with respiratory distress - SMARD1 (12.5, 14.79)
* Autosomal recessive CMT axonal type 2S - CMT2S (12.5, 14.79)

IKBKAP
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



9q31-q33
* Neuropathy, hereditary sensory and autonomic, type III - HSAN3 (14.91, 16.3)
* Familial dysautonomia (Riley-Day syndrome) - (14.91, 14.91, 16.3)

ILK
Integrin-linked kinase



11p15.5-p15.4
* Dilated cardiomyopathy related to integrin-linked kinase - ILK (10.76)

INF2
Inverted formin 2



14q32-33
* Charcot-Marie-Tooth neuropathy with glomerulopathy - CMTDIE (14.16)

INPP5K
Inositol Polyphosphate-5-Phosphatase K



17p13.3
* Muscular dystrophy, congenital, with cataracts and intellectual disability - MDCCAID (2.48)

ISCU
Iron-sulfur cluster scaffold homolog (E. coli)(M)



12q24.1
* myopathy with exercise intolerance, swedish type - (5.28)
* myopathy with deficiency of succinate dehydrogenase and aconitase - (5.28)
* myopathy with lactic acidosis, hereditary - HML (5.28)

ISPD
Isoprenoid synthase domain containing



7p21.2
* Walker-Warburg syndrome - WWS (1.41, 2.24)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA7 (1.41, 2.24)

ITGA7
Integrin alpha 7 precursor



12q13
* Congenital muscular dystrophy with integrin defect - (2.14)
* Muscular dystrophy, congenital, due to ITGA7 deficiency - (2.14)

ITPR1
Inositol 1,4,5-triphosphate receptor type 1



3p26.1
* Spinocerebellar ataxia 15 - SCA15 (13.14)