# | Chro mo some # |
Diseases associated with chromosome | Graphic (click to enlarge) |
|||
1. |
1 |
3000 |
240 |
90% |
(1) UROD Porphyria Cutanea tarda |
|
2. |
2 |
2500 |
240 |
95% |
(1) ETM2 Essential tremor |
|
3. |
3 |
1900 |
200 |
95% |
(1) UHL Von Hippel Lindau |
|
4. |
4 |
1600 |
190 |
95% |
(1) EVC Ellis-Van-Creveld |
|
5. |
5 |
1700 |
180 |
95% |
(1) SRD5A1 Steroid 5-alpha
reductase1 |
|
6. |
6 |
1900 |
170 |
95% |
(1) SCA1 Spinocerebellar ataxia |
|
7. |
7 |
1800 |
150 |
95% |
(1) GCK Diabetes |
|
8. |
8 |
1400 |
140 |
95% |
(1) WRN Werner syndrome |
|
9. |
9 |
1400 |
130 |
85% |
(1) CDKN2 Malignant melanoma |
|
10. |
10 |
1400 |
130 |
95% |
(1) PAHX Refsum disease |
|
11. |
11 |
2000 |
130 |
95% |
(1) HRAS Harvey Ras Oncogene |
|
12. |
12 |
1600 |
130 |
95% |
(1) PXR1 Zellweger syndrom |
|
13. |
13 |
800 |
110 |
80% |
(1) BRCA2 Breast Cancer |
|
14. |
14 |
1200 |
100 |
80% |
(1) PS1 (AD3) Alzhimer disease |
|
15. |
15 |
1200 |
100 |
80% |
(1) SNRPN prader-willi syndrome |
|
16. |
16 |
1300 |
90 |
85% |
(1) HBA1, HBA2 Alpha thalassemia |
|
17. |
17 |
1600 |
80 |
95% |
(1) PS3 Tumor suppressor protein |
|
18. |
18 |
600 |
70 |
95% |
(1) NPCI Niemann-pick disease |
|
19. |
19 |
1700 |
60 |
85% |
(1) JAK2 Severe combined
immunodeficiency |
|
20. |
20 |
900 |
60 |
90% |
(1) ADA Severe combined immuno deficiency |
|
21. |
21 |
400 |
40 |
70% |
(1) SOD1 Amylotrophic lateral
sclerosis. |
|
22. |
22 |
800 |
40 |
70% |
(1) SGLT1 Glucose galactase
malabsorption. |
|
X |
X |
1400 |
150 |
95% |
(1) PIG-A Paroxysmal nocturnal
hemoglobinuria. |
|
Y |
Y |
200 |
5 |
50% |
(1) SRY Testes determining factor. |
|
Total |
23 |
34300 |
2935 |
- |
92 types of diseases |
Fig.39b |