Gene product table
Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| Karyopherin alpha-3 | KPNA3 (13q14.2)     
| * Spastic paraplegia 88, autosomal dominant - SPG88 (15.77) |
| Kelch repeat and BTB (POZ) domain containing 13 | KBTBD13 (15q22.31)
| * LGMD related to KBTBD13 - (3.8)* Nemaline myopathy 6 - NEM6 (3.8) |
| Kelch-like family member 40 | KLHL40 (2p22.1)
| * Severe autosomal-recessive nemaline myopathy - NEM8 (3.10) |
| Kelch-like family member 41 | KLHL41 (2q31.1)
| * Nemaline myopathy - NEM9 (3.11) |
| Kelch-like homologue 9 | KLHL9 (9p21.2-p22.3)
| * Early onset distal myopathy with KLHL9 mutations - (4.21) |
| KIAA1985 protein | SH3TC2 (5q32)
| * Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.26) |
| kinase D-interacting substrate, 220kDa | KIDINS220 (2p25.1)
| * Spastic paraplegia, intellectual disability, nystagmus, and obesity - SINO (15.23) |
| Kinesin family member 1A | KIF1A (2q37.3)
| * Spastic paraplegia 30 - SPG30 (14.118, 15.12, 15.39)* Neuropathy, hereditary sensory, type IIC - HSN2C (14.118, 15.12, 15.39) |
| Kinesin family member 1B(M) | KIF1B (1p36.2)
| * Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.47) |
| kinesin family member 1C | KIF1C (17p13.2)
| * ataxia, spastic, 2, autosomal recessive - SPAX2 (15.92) |
| Kinesin family member 20A | KIF20A (5q31.2)
| * Restrictive cardiomyopathy, 6 - RCM6 (10.101) |
| Kinesin family member 21A | KIF21A (12q12)
| * Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 (17.5) |
| Kinesin family member 26B | KIF26B (1q44)
| * Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B - (12.109) |
| Kinesin family member 5A | KIF5A (12q13.13)
| * CMT2 related to KIF5A - (12.78, 14.73, 15.6)* Spastic paraplegia 10 - SPG10 (12.78, 14.73, 15.6)* Amyotrophic lateral sclerosis 25, susceptibility to - ALS25 (12.78, 14.73, 15.6) |
| Kinesin light chain 2 | KLC2 (11q13.2)
| * Spastic paraplegia, optic atrophy, and neuropathy - SPOAN (15.85) |
| Kir2.6 (inwardly rectifying potassium channel 2.6) | KCNJ18 (17p11.2)
| * Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2 (7.13) |
| Kyphoscoliosis peptidase | KY (3q22.2)
| * Myopathy microfibrillar type 7 - MFM7 (5.8) |
