| 2227 |
Otocephaly, OTX2-related |
1 |
Target evidence
|
49.6 |
| 2229 |
Hypotrichosis, HR-related |
10 |
Target evidence
|
78.7 |
| 2230 |
Hypotrichosis, HEPHL1-related |
1 |
Target evidence
|
45.2 |
| 2232 |
Myopathy, congenital, SPTBN4-related |
1 |
Target evidence
|
56.2 |
| 2238 |
Ichthyosis, ABCA12-related |
3 |
Target evidence
|
64.9 |
| 2241 |
Neurofibromatosis, type 1 |
1 |
Target evidence
|
89.9 |
| 2243 |
Ichthyosis, DSP-related |
2 |
Target evidence
|
58.0 |
| 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 |
| 2261 |
Lethality, ITGA3-related |
1 |
Target evidence
|
57.3 |
| 2265 |
Darier disease |
1 |
Drug
|
72.8 |
| 2266 |
Hyperkeratosis, palmoplantar, DSG1-related |
1 |
Target evidence
|
59.8 |
| 2267 |
Retinal atrophy, progressive, KIF3B-related |
1 |
Target evidence
|
47.4 |
| 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 |
| 2279 |
Ataxia, spinocerebellar, SLC12A6-related |
1 |
Target evidence
|
57.5 |
| 2284 |
Polyneuropathy, SBF2-related |
1 |
Target evidence
|
55.8 |
| 2285 |
Muscular dystrophy, TNNT1-related |
1 |
Target evidence
|
56.5 |
| 2287 |
Hypopigmentation and deafness |
1 |
Drug
|
60.1 |
| 2288 |
Mandibulofacial dysostosis |
1 |
Target evidence
|
47.2 |
| 2289 |
Retinal atrophy, progressive, IMPG2-related |
1 |
Target evidence
|
52.9 |
| 2294 |
Cerebellar degeneration-myositis complex, SLC25A12-related |
1 |
Target evidence
|
57.0 |
| 2295 |
classical Ehlers-Danlos syndrome (cEDS), COL5A2-related |
2 |
Drug
|
65.4 |
| 2296 |
XY sex reversal, NR5A1-related |
1 |
Target evidence
|
61.8 |
| 2297 |
Amelia, RSPO2-related |
2 |
Target evidence
|
49.6 |
| 2298 |
Neuropathy with splayed forelimbs, UCHL1-related |
1 |
Target evidence
|
57.1 |
| 2299 |
Leukaemia, chronic myelomonocytic |
1 |
Drug
|
56.7 |
| 2305 |
Muscular dystrophy, limb-girdle, type R3 (LGMDR3) |
1 |
Target evidence
|
63.2 |
| 2307 |
Frontonasal dysplasia, ZIC2-related |
1 |
Target evidence
|
57.6 |
| 2308 |
Cardiomyopathy, X-linked dilated |
1 |
Drug
|
59.0 |
| 2314 |
Pituitary hormone deficiency, LHX3-related |
1 |
Target evidence
|
56.5 |
| 2315 |
Pituitary hormone deficiency, POU1F1-related |
1 |
Target evidence
|
62.8 |
| 2316 |
Cardiomyopathy, hypertrophic, ALMS1-related |
1 |
Target evidence
|
75.3 |
| 2325 |
Encephalopathy, ASPA-related |
1 |
Target evidence
|
73.9 |
| 2332 |
Long QT syndrome, KCNQ1-related |
2 |
Drug
|
69.3 |
| 2334 |
Long QT syndrome, KCNE1-related |
1 |
Target evidence
|
57.0 |
| 2365 |
Cardiomyopathy, dilated, RBM20-related |
2 |
Target evidence
|
58.2 |
| 2368 |
Ichthyosis, ABHD5-related |
1 |
Target evidence
|
57.8 |
| 2371 |
Microcephaly, MFSD2A-related |
1 |
Target evidence
|
58.4 |
| 2374 |
Charcot Marie Tooth disease, FGD4-related |
1 |
Target evidence
|
55.2 |
| 2375 |
Congenital disorder of glycosylation, GALNT2-related |
1 |
Target evidence
|
56.2 |
| 2380 |
Thyroid follicular cell carcinoma, predisposition to |
1 |
Drug
|
33.1 |
| 2406 |
Rett syndrome, MECP2-related |
3 |
Target evidence
|
84.9 |
| 2432 |
Neuronal ceroid lipofuscinosis, 3 |
2 |
Target evidence
|
75.6 |
| 2433 |
Thrombopathia, RASGRP2-related |
2 |
Target evidence
|
64.2 |
| 2435 |
Sperm, short tail, SPEF2-related |
1 |
Target evidence
|
53.5 |
| 2442 |
Sperm flagella defect, DNAH17-related |
1 |
Target evidence
|
54.5 |
| 2444 |
Hydrallantois, SLC12A1-related |
1 |
Drug
|
59.0 |
