| 1544 |
Hypotrichosis with coat-colour dilution (rat-tail syndrome) |
1 |
Drug
|
49.0 |
| 1547 |
Wingless-2 |
1 |
Drug
|
58.3 |
| 1564 |
Bleeding disorder, P2RY12-related |
1 |
Drug
|
62.0 |
| 1573 |
Leukaemia, chronic monocytic |
1 |
Drug
|
82.8 |
| 1677 |
Epidermolysis bullosa, junctionalis, LAMA3-related |
3 |
Drug
|
64.5 |
| 1678 |
Epidermolysis bullosa, junctionalis, LAMC2-related |
3 |
Drug
|
62.5 |
| 1685 |
Stress syndrome, DMD-related |
1 |
Drug
|
59.0 |
| 1703 |
Chondrodysplasia, FGFR3-related |
2 |
Drug
|
85.9 |
| 1765 |
Waardenburg syndrome, type 4A |
1 |
Drug
|
58.7 |
| 1772 |
Skeletal dysplasia 2, COL11A2-related |
1 |
Drug
|
59.6 |
| 1777 |
Mammary tumour |
5 |
Drug
|
54.9 |
| 1818 |
Factor XIII deficiency, F13A1-related |
2 |
Drug
|
65.4 |
| 1888 |
Muscular dystrophy, Becker type |
3 |
Drug
|
93.7 |
| 1926 |
Achondrogenesis, type II |
3 |
Drug
|
68.7 |
| 1965 |
Cholesterol deficiency, APOB-related |
1 |
Drug
|
59.4 |
| 1967 |
Muscular dystrophy, Ullrich type, COL6A1-related |
1 |
Drug
|
59.1 |
| 1990 |
Cancer, TP53-related |
5 |
Drug
|
84.9 |
| 2020 |
Ligneous membranitis |
1 |
Drug
|
69.5 |
| 2028 |
Myeloperoxidase deficiency |
1 |
Drug
|
63.4 |
| 2064 |
Autoimmune lymphoproliferative syndrome, FASLG-related |
1 |
Drug
|
56.0 |
| 2090 |
Facial dysplasia syndrome |
1 |
Drug
|
61.8 |
| 2112 |
Osteogenesis imperfecta, COL1A2-related |
2 |
Drug
|
64.1 |
| 2126 |
Osteogenesis imperfecta, type III, COL1A1-related |
1 |
Drug
|
60.7 |
| 2127 |
Osteogenesis imperfecta, type II, COL1A1-related |
2 |
Drug
|
64.1 |
| 2161 |
Leg weakness, MSTN-related |
1 |
Drug
|
49.1 |
| 2165 |
classical Ehlers-Danlos syndrome (cEDS), COL5A1-related |
2 |
Drug
|
67.2 |
| 2171 |
Ameloblastoma |
2 |
Drug
|
59.3 |
| 2194 |
Ataxia, spinocerebellar, SCN8A-related |
1 |
Drug
|
61.0 |
| 2212 |
Cardiomyopathy, hypertrophic, MYH7-related |
3 |
Drug
|
61.0 |
| 2217 |
Hyperphagia leading to hepatic steatosis |
1 |
Drug
|
55.6 |
| 2250 |
Succinic semialdehyde dehydrogenase deficiency, ALDH5A1-related |
1 |
Drug
|
78.5 |
| 2254 |
Glucocorticoid resistance |
1 |
Drug
|
64.8 |
| 2260 |
Lethality, COL6A3-related |
1 |
Drug
|
58.2 |
| 2265 |
Darier disease |
1 |
Drug
|
72.8 |
| 2269 |
Epidermolysis bullosa, junctionalis, LAMB3-related |
2 |
Drug
|
62.4 |
| 2271 |
Immunodeficiency, IL17RA-related |
1 |
Drug
|
62.5 |
| 2274 |
Muscular dystrophy, Ullrich type, COL6A3-related |
1 |
Drug
|
56.1 |
| 2287 |
Hypopigmentation and deafness |
1 |
Drug
|
60.1 |
| 2295 |
classical Ehlers-Danlos syndrome (cEDS), COL5A2-related |
2 |
Drug
|
65.4 |
| 2299 |
Leukaemia, chronic myelomonocytic |
1 |
Drug
|
56.7 |
| 2308 |
Cardiomyopathy, X-linked dilated |
1 |
Drug
|
59.0 |
| 2332 |
Long QT syndrome, KCNQ1-related |
2 |
Drug
|
69.3 |
| 2380 |
Thyroid follicular cell carcinoma, predisposition to |
1 |
Drug
|
33.1 |
| 2444 |
Hydrallantois, SLC12A1-related |
1 |
Drug
|
59.0 |
| 2445 |
Xanthinuria, type I |
2 |
Drug
|
60.2 |
| 2459 |
Congenital muscular dystrophy, LAMA2-related |
1 |
Drug
|
60.3 |
| 2557 |
Leber hereditary optic neuropathy |
1 |
Drug
|
77.5 |
| 2618 |
Nephropathy, COL4A4 related |
1 |
Drug
|
64.9 |
| 2621 |
Gaucher disease, type II |
1 |
Drug
|
64.7 |
| 2710 |
Cardiomyopathy, dilated, ABCC9-related |
1 |
Drug
|
62.2 |