Gene table

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

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

KBTBD13
kelch repeat and BTB (POZ) domain containing 13

15q22.31
* Nemaline myopathy 6 - NEM6 (3.7)

KCNA1
potassium voltage-gated channel, shaker-related subfamily, member 1

12p13
* Episodic ataxia with myokymia - EA1 (7.12, 13.29)

KCNA5
potassium voltage-gated channel, shaker-related subfamily, member 5

12p13
* atrial fibrillation, familial - ATFB7 (10.107)

KCNC3
potassium voltage-gated channel, Shaw-related subfamily, member 3

19q13.3-q13.4
* Spinocerebellar ataxia 13 - SCA13 (13.12)

KCNE1
potassium voltage-gated channel, Isk-related family, member 1

21q22.1-q22.2
* Long QT syndrome-5 - LQT5 (7.19, 10.91)
* Jervell and Lange-Nielsen syndrome - JLNS1 (7.19, 10.91)

KCNE2
potassium voltage-gated channel, Isk-related family, member 2

21q22.12
* Long QT syndrome-6 - LQT6 (7.18, 10.100, 10.104, 10.92)
* Atrial fibrillation, 4 - ATFB4 (7.18, 10.100, 10.104, 10.92)

KCNE3
Potassium voltage-gated channel, Isk-related family, member 3

11q13-q14
* Hypokalaemic periodic paralysis, type 3 - hypoKPP3 (7.11)

KCNH2
voltage-gated potassium channel, subfamily H, member 2

7q35-q36
* Long QT syndrome-2 - LQT2 (7.15, 10.88, 10.96)
* Short qt syndrome 1 - SQT1 (7.15, 10.88, 10.96)

KCNJ18
Kir2.6 (inwardly rectifying potassium channel 2.6)

17p11.2
* Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2 (7.13)

KCNJ2
potassium inwardly-rectifying channel J2

17q23
* Long QT syndrome-7 - LQT7 (7.14, 10.93, 10.98)
* Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (7.14, 10.93, 10.98)

KCNQ1
potassium voltage-gated channel, KQT-like subfamily, member 1

11p15.5
* Long QT syndrome-1 - LQT1 (7.16, 7.17, 10.103, 10.87, 10.97, 10.99)
* Romano-Ward syndrome - RWS (7.16, 7.17, 10.103, 10.87, 10.97, 10.99)
* jervell and lange-nielsen syndrome - JLNS1 (7.16, 7.17, 10.103, 10.87, 10.97, 10.99)
* Atrial fibrillation, 3 - ATFB3 (7.16, 7.17, 10.103, 10.87, 10.97, 10.99)

KIAA0196
strumpellin

8q24.13
* Spastic paraplegia 8 - SPG8 (15.4)

KIAA0415
hypothetical protein LOC9907 ?

7p22.2
* Spastic paraplegia 48, autosomal recessive - SPG48 (15.40)

KIF1A
kinesin family member 1A

2q37.3
* Spastic paraplegia 30 - SPG30 (14.57, 15.33)
* Neuropathy, hereditary sensory, type IIC - HSN2C (14.57, 15.33)

KIF1B
kinesin family member 1B

1p36.2
* Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.35)

KIF21A
kinesin family member 21A

12q12
* Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 (16.5)

KIF5A
kinesin family member 5A

12q13.13
* Spastic paraplegia 10 - SPG10 (15.6)

KLHL9
kelch-like homologue 9

9p21.2-p22.3
* Early onset distal myopathy with KLHL9 mutations - (4.14)