# |
Chro
mo
some # |
|
|
|
Diseases associated with chromosome |
Graphic (click to enlarge) |
1. |
1 |
3000 |
240 |
90% |
(1) UROD Porphyria Cutanea tarda
(2) GBA Gaucher disease
(3) GLC1A Glaucoma
(4) HPC1 Prostate Cancer
(5) PS2 Alzheimer disease |
|
2. |
2 |
2500 |
240 |
95% |
(1) ETM2 Essential tremor
(2) MS6 Colon Cancer
(3) PAX3 Wardenberg Syndrom |
|
3. |
3 |
1900 |
200 |
95% |
(1) UHL Von Hippel Lindau
(2) MLH1 Colon Cancer
(3) SCLC1 Lung Cancer
(4) ETM1 Essential tremor |
|
4. |
4 |
1600 |
190 |
95% |
(1) EVC Ellis-Van-Creveld
(2) HD Huntington disease
(3) FGFR3 Achondroplasia
(4) NRCPL Narcolepsy
(5) SNCA parkinson disease
(6) FOP Fibrodysplasia Ossificans
progressiva |
|
5. |
5 |
1700 |
180 |
95% |
(1) SRD5A1 Steroid 5-alpha
reductase1
(2) CKN1 Cockayne syndrom
(3) SMN1 Spinal muscular atrophy
(4) Asthma
(5) DTD Diastrophic dysplasia |
|
6. |
6 |
1900 |
170 |
95% |
(1) SCA1 Spinocerebellar ataxia
(2) HFE Hemo Chromatosis
(3) IDDM1 Diabetes
(4) CYP21A Congenital adrenal
hyper plasia due to 21
hydroxylase dificiency
(5) EPM2A Epilepsy |
|
7. |
7 |
1800 |
150 |
95% |
(1) GCK Diabetes
(2) ELN Williams syndrome
(3) CTFR fibrosis
(4) Pendrin Pendred syndrome
(5) Obesity |
|
8. |
8 |
1400 |
140 |
95% |
(1) WRN Werner syndrome
(2) MYC Barkitt lymphoma |
|
9. |
9 |
1400 |
130 |
85% |
(1) CDKN2 Malignant melanoma
(2) FRDA Friedrich's ataxia
(3) ABCI Tangier disease
(4) TSC1 Tuberoussclerosis
(5) ABL Chronic mycloid Leukemia |
|
10. |
10 |
1400 |
130 |
95% |
(1) PAHX Refsum disease
(2) OAT Gyrate atrophy |
|
11. |
11 |
2000 |
130 |
95% |
(1) HRAS Harvey Ras Oncogene
(2) IDDM2 Diabetes
(3) LQT Long QT syndrome
(4) VMD2 Best syndrome
(5) MEN1 multiple endocrine
neoplasia
(6) ATM Ataxia telangiectasia. |
|
12. |
12 |
1600 |
130 |
95% |
(1) PXR1 Zellweger syndrom
(2) PAH Phenylketonuria |
|
13. |
13 |
800 |
110 |
80% |
(1) BRCA2 Breast Cancer
(2) CX 26 Autosomal recessive
neurosensory deafness
(3) RB1 Retinoblastoma
(4) ATP7B Wilson disease |
|
14. |
14 |
1200 |
100 |
80% |
(1) PS1 (AD3) Alzhimer disease
(2) SERPINA1 alpha-1-antitrypsin
deficiency |
|
15. |
15 |
1200 |
100 |
80% |
(1) SNRPN prader-willi syndrome
(2) UBE Angelman syndrome
(3) FBN1 Marfan syndrome
(4) HEXA Tay-sachs disease |
|
16. |
16 |
1300 |
90 |
85% |
(1) HBA1, HBA2 Alpha thalassemia
(2) PKD1 Polycystic kidney disease
(3) FMF Femilial mediterranean
fever
(4) Crohn's disease |
|
17. |
17 |
1600 |
80 |
95% |
(1) PS3 Tumor suppressor protein
(2) CMT1A Charcot-marie-tooth
syndrom
(3) BRCA1 Breast Cancer |
|
18. |
18 |
600 |
70 |
95% |
(1) NPCI Niemann-pick disease
(2) DPC4 Pancteatic cancer |
|
19. |
19 |
1700 |
60 |
85% |
(1) JAK2 Severe combined
immunodeficiency
(2) BCKDHA Maple syrup urine
disease
(3) DMPK Mytotonic dystrophy
(4) APOE Atherosclerosis |
|
20. |
20 |
900 |
60 |
90% |
(1) ADA Severe combined immuno
deficiency |
|
21. |
21 |
400 |
40 |
70% |
(1) SOD1 Amylotrophic lateral
sclerosis.
(2) APS1 Autoimmune polyglandular
syndrome. |
|
22. |
22 |
800 |
40 |
70% |
(1) SGLT1 Glucose galactase
malabsorption.
(2) DGS Digcorge syndrome.
(3) NF2 Neurofibromatosis.
(4) BCR Chronic myeoloid leukemia. |
|
X |
X |
1400 |
150 |
95% |
(1) PIG-A Paroxysmal nocturnal
hemoglobinuria.
(2) DMD Duchenne Muscular
Dystrophy.
(3) ATP7A Menkes syndrome.
(4) COL4AS Alport syndrome.
(5) IL2RG X-linked Severe Combined
Immunodeficiency (SCID).
(6) TNFSF5 Immunodeficiency
with hyper 19m.
(7) HPRT1 Lesch-nyhan syndrome.
(8) FMR1 Fragile X syndrome.
(9) MEC P2 Rett syndrome.
(10) ALD Adrenoleukodystrophy.
(11) HEMA hemophilia A. |
|
Y |
Y |
200 |
5 |
50% |
(1) SRY Testes determining factor. |
|
Total |
23 |
34300 |
2935 |
- |
92 types of diseases |
Fig.39b |