Disease phenotype
OMIM
Gene symbol (chromosome)
protein
protein
IKBKAP (9q31-q33)
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
? - (9p23-p11)
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Familial amyloid neuropathy (16.4) | ||
| Familial brachial plexus neuropathy (14.64) | ||
| Familial dysautonomia (Riley-Day syndrome) (16.3, 14.59) | IKBKAP (9q31-q33) inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | |
| Familial hypertrophic cardiomyopathy, 13 (10.12, 10.50) | ||
| Familial hypertrophic cardiomyopathy, 14 (10.1, 10.62, 10.13) | ||
| Familial limb-girdle myasthenia (11.15) | ||
| familial sinusal bradycardia (10.115) | ||
| Familial spastic paraplegia, autosomal dominant, 1 (15.1) | ||
| Familial spastic paraplegia, autosomal dominant, 2 (15.2) | ||
| Fatty aldehyde dehydrogenase (15.41) | ||
| Fibrodysplasia ossificans progressiva (5.16) | ||
| Fibrosis of extraocular muscles, congenital, 1 (16.5) | ||
| Fibrosis of extraocular muscles, congenital, 2 (16.6) | ||
| Fibrosis of extraocular muscles, congenital, 3 (16.7) | ||
| Friedreich ataxia (13.36) | ||
| friedreich ataxia 2 (13.37) | ? - (9p23-p11) | |
| Friedreich ataxia with retained reflexes (13.36) | ||
| fukuyama congenital muscular dystrophy (2.5, 2.6, 10.53, 1.31) |