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 (15.57)
Immunoglobulin mu binding protein 2
IGHMBP2 (11q13.2-q13.4)


* Spinal muscular atrophy with respiratory distress - SMARD1 (12.5, 14.76)
* Autosomal recessive CMT axonal type 2S - CMT2S (12.5, 14.76)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-as
IKBKAP (9q31-q33)


* Neuropathy, hereditary sensory and autonomic, type III - HSAN3 (14.90, 16.3)
* Familial dysautonomia (Riley-Day syndrome) - (14.90, 16.3)
Inositol 1,4,5-triphosphate receptor type 1
ITPR1 (3p26.1-p25.3)


* Spinocerebellar ataxia 15 - SCA15 (13.14)
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 - (2.15)
* Muscular dystrophy, congenital, due to ITGA7 deficiency - (2.15)
Integrin-linked kinase
ILK (11p15.5-p15.4)


* Dilated cardiomyopathy related to integrin-linked kinase - ILK (10.71)
Interferon-related developmental regulator 1
IFRD1 (7q22-q32)


* Spinocerebellar ataxia 18 - SCA18 (13.16)
Inverted formin 2
INF2 (14q32-33)


* Charcot-Marie-Tooth neuropathy with glomerulopathy - CMTDIE (14.16)
Iron-sulfur cluster scaffold homolog (E. coli)(M)
ISCU (12q24.1)


* myopathy with deficiency of succinate dehydrogenase and aconitase - (5.26)
* myopathy with lactic acidosis, hereditary - HML (5.26)
* myopathy with exercise intolerance, swedish type - (5.26)
Isoprenoid synthase domain containing
ISPD (7p21.2)

* Walker-Warburg syndrome - WWS (1.41, 2.25)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA7 (1.41, 2.25)