Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
KARSLysyl-tRNA synthetase | 16q23.1 | * Axonal neuropathy recessive - CMTRIB (14.24)
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KBTBD13Kelch repeat and BTB (POZ) domain containing 13 | 15q22.31 | * Nemaline myopathy 6 - NEM6 (3.9) * LGMD related to KBTBD13 - (3.9, 3.9)
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KCNA1Potassium voltage-gated channel, shaker-related subfamily, member 1 | 12p13 | * Episodic ataxia with myokymia - EA1 (7.12)
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KCNA5Potassium voltage-gated channel, shaker-related subfamily, member 5 | 12p13.32 | * atrial fibrillation, familial - ATFB7 (10.164)
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KCNC3Potassium voltage-gated channel, Shaw-related subfamily, member 3 | 19q13.33 | * Spinocerebellar ataxia 13 - SCA13 (13.12)
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KCND3Potassium voltage-gated channel, Shal-related subfamily, member 3 | 1p13.2 | * Spinocerebellar ataxia 19 - SCA19 (10.185, 13.17) * Brugada syndrome 9 - BRGDA9 (10.185, 13.17)
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KCNE1Potassium voltage-gated channel, Isk-related family, member 1 | 21q22.12 | * Jervell and Lange-Nielsen cardio-auditory syndrome - JLNS2 (10.140, 10.157) * Long QT syndrome-5 - LQT5 (10.140, 10.157)
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KCNE2Potassium voltage-gated channel, Isk-related family, member 2 | 21q22.12 | * Atrial fibrillation, 4 - ATFB4 (10.141, 10.161) * Long QT syndrome-6 - LQT6 (10.141, 10.161)
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KCNE3Potassium voltage-gated channel, Isk-related family, member 3 | 11q13.4 | * Brugada syndrome 6 - BRGDA6 (7.11, 10.182) * Hypokalaemic periodic paralysis - HOKPP (7.11, 10.182)
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KCNH2Voltage-gated potassium channel, subfamily H, member 2 | 7q36.1 | * Short qt syndrome 1 - SQT1 (10.137, 10.153) * Long QT syndrome-2 - LQT2 (10.137, 10.153)
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KCNJ18Kir2.6 (inwardly rectifying potassium channel 2.6) | 17p11.2 | * Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2 (7.13)
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KCNJ2Potassium channel, inwardly rectifying, dubfamily J, member 2 | 17q24.3 | * Long QT syndrome-7 - LQT7 (10.142, 10.155, 10.166) * Atrial fibrillation, 9 - ATFB9 (10.142, 10.155, 10.166) * Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (10.142, 10.155, 10.166) * Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (10.142, 10.155, 10.166)
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KCNJ5Potassium inwardly-rectifying channel, subfamily J, member 5 | 11 q24.3 | * Long QT syndrome 13 - LQT13 (10.148, 10.152) * Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (10.148, 10.152)
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KCNQ1Potassium voltage-gated channel, KQT-like subfamily, member 1 | 11p15.5-p15.4 | * Atrial fibrillation, 3 - ATFB3 (10.136, 10.154, 10.156, 10.160) * jervell and lange-nielsen syndrome - JLNS1 (10.136, 10.154, 10.156, 10.160) * Romano-Ward syndrome - RWS (10.136, 10.154, 10.156, 10.160) * Long QT syndrome-1 - LQT1 (10.136, 10.154, 10.156, 10.160)
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| 8q24.13 | * Spastic paraplegia 8 - SPG8 (15.4)
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KIDINS220kinase D-interacting substrate, 220kDa | 2p25.1 | * Spastic paraplegia, intellectual disability, nystagmus, and obesity - SINO (15.26)
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KIF1AKinesin family member 1A | 2q37.3 | * Neuropathy, hereditary sensory, type IIC - HSN2C (14.121, 15.13, 15.42) * Spastic paraplegia 30 - SPG30 (14.121, 15.13, 15.42)
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KIF1BKinesin family member 1B(M) | 1p36.2 | * Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.54)
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KIF1Ckinesin family member 1C | 17p13.2 | * ataxia, spastic, 2, autosomal recessive - SPAX2 (15.89)
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KIF20AKinesin family member 20A | 5q31.2 | * Restrictive cardiomyopathy, 6 - RCM6 (10.101)
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KIF21AKinesin family member 21A | 12q12 | * Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 (16.5)
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KIF26BKinesin family member 26B | 1q44 | * Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B - (12.106)
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KIF5AKinesin family member 5A | 12q13.13 | * Spastic paraplegia 10 - SPG10 (12.76, 14.80, 15.6) * CMT2 related to KIF5A - (12.76, 14.80, 15.6) * Amyotrophic lateral sclerosis 25, susceptibility to - ALS25 (12.76, 14.80, 15.6)
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KLC2Kinesin light chain 2 | 11q13.2 | * Spastic paraplegia, optic atrophy, and neuropathy - SPOAN (15.82)
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| 3q27.1 | * Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies - CMH29 (10.31)
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KLHL40Kelch-like family member 40 | 2p22.1 | * Severe autosomal-recessive nemaline myopathy - NEM8 (3.11)
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KLHL41Kelch-like family member 41 | 2q31.1 | * Nemaline myopathy - NEM9 (3.12)
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KLHL9Kelch-like homologue 9 | 9p21.2-p22.3 | * Early onset distal myopathy with KLHL9 mutations - (4.21)
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| 13q14.2 | * Spastic paraplegia 88, autosomal dominant - SPG88 (15.25)
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KYKyphoscoliosis peptidase | 3q22.2 | * Myopathy microfibrillar type 7 - MFM7 (5.8)
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