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

HCN4
hyperpolarization activated cyclic nucleotide-gated potassium channel 4

15q24.1
* Sick Sinus Syndrome 2, autosomal dominant - SSS2 (10.115)
* familial sinusal bradycardia - FSBD (10.115)

HOXD10
homeobox D10

2q31.1
* Charcot-Marie-Tooth disease, congenital, vertical talus - (14.8)

HSPB1
heat shock 27kDa protein 1

7q11.23
* Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.11, 14.41)
* Neuropathy, distal hereditary motor, type IIB - HMN2B (12.11, 14.41)

HSPB3

5q11.2
* neuronopathy, distal hereditary motor, type IIC - HMN2C (12.12)

HSPB8
heat shock 27kDa protein 8

12q24.23
* Neuropathy, distal hereditary motor, type II - HMN2A (12.10, 14.47)
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (12.10, 14.47)

HSPD1
heat shock 60kDa protein 1 (chaperonin)

2q33.1
* Spastic paraplegia 13 - SPG13 (15.8)

HSPG2
perlecan

1p36.1-p34
* Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.8)
* Schwartz-Jampel syndrome, type 1 - SJS1 (6.8)