| Description |
Gene |
Chromosome |
Adrenoleukodystrophy |
ALD |
X
|
|
Alzheimer disease, type 3 |
AD3 |
14
|
|
Alzheimer disease, type 4 |
AD4 |
1
|
|
Amyotrophic lateral sclerosis |
SOD1 |
21
|
|
Apolipoprotein E |
APOE |
19
|
|
Ataxia telangiectasia |
ATM |
11
|
|
Breast cancer, type 1 |
BRCA1 |
17
|
|
Breast cancer, type 2 |
BRCA2 |
13
|
|
Burkitt lymphoma |
MYC |
8
|
|
Colon cancer, nonpolyposis, type 1 |
MSH2 |
2
|
|
Colon cancer, nonpolyposis, type 2 |
MLH1 |
3
|
|
Cystic fibrosis |
CFTR |
7
|
|
DiGeorge syndrome |
DGS |
22
|
|
Diastrophic dysplasia |
DTD |
5
|
|
Duchenne muscular dystrophy |
DMD |
X
|
|
Ellis-van Creveld syndrome |
EVC |
4
|
|
Gaucher disease |
GBA |
1
|
|
Gyrate atrophy of the choroid and retina |
OAT |
10
|
|
Harvey ras oncogene |
HRAS |
11
|
|
Huntington disease |
HD |
4
|
|
Juvenile onset diabetes |
IDDM1 |
6
|
|
Long QT syndrome |
LQT1 |
11
|
|
Malignant melanoma |
CDKN2 |
9
|
|
Marfan syndrome |
FBN1 |
15
|
|
Menkes syndrome |
ATP7A |
X
|
|
Multiple endocrine neoplasia |
MEN2A |
10
|
|
Myotonic dystrophy |
DM |
19
|
|
Neurofibromatosis, type 2 |
NF2 |
22
|
|
Obesity |
OBS |
7
|
|
Phenylketonuria |
PAH |
12
|
|
Polycystic kidney disease |
PKD1 |
16
|
|
Retinoblastoma, type 1 |
RB1 |
13
|
|
Severe combined immunodeficiency |
ADA |
20
|
|
Small cell lung carcinoma |
SCLC1 |
3
|
|
Spinocerebellar atrophy |
SCA1 |
6
|
|
Steroid 5-alpha-reductase-1 |
SRD5A1 |
5
|
|
Suppressor of pancreatic carcinoma |
DPC4 |
18
|
|
Testis-determining factor |
TDF |
Y
|
|
Tuberous sclerosis |
TSC1 |
9
|
|
Tumor suppressor protein p53 |
TP53 |
17
|
|
Von Hippel-Lindau syndrome |
VHL |
3
|
|
Waardenberg syndrome |
PAX3 |
2
|
|
Werner syndrome |
WRN |
8
|
|
Wilson disease |
ATP7B |
13
|
|
X-linked mental retardation |
FMR1 |
X
|
|
Zellweger syndrome |
PXR1 |
12
|
