| 2241 |
Neurofibromatosis, type 1 |
1 |
Target evidence
|
89.9 |
| 2242 |
Muscular dystrophy, ANO5-related |
1 |
Human disease
|
5.0 |
| 2243 |
Ichthyosis, DSP-related |
2 |
Target evidence
|
58.0 |
| 2244 |
Craniomandibular osteopathy, SLC37A2-related |
1 |
Animal disease only
|
|
| 2245 |
Calvarial hyperostotic syndrome |
2 |
Human disease
|
12.0 |
| 2247 |
Microvillus inclusion disease |
1 |
Human disease
|
22.5 |
| 2250 |
Succinic semialdehyde dehydrogenase deficiency, ALDH5A1-related |
1 |
Drug
|
78.5 |
| 2251 |
Surfactant metabolism dysfunction, pulmonary |
1 |
Animal disease only
|
|
| 2253 |
Retinal atrophy, progressive, Miniature Schnauzer, type 2 |
1 |
Animal disease only
|
|
| 2254 |
Glucocorticoid resistance |
1 |
Drug
|
64.8 |
| 2256 |
Cardiomyopathy and juvenile mortality |
1 |
Human gene
|
21.0 |
| 2258 |
Lethality, SOWAHB-related |
1 |
Human gene
|
29.0 |
| 2259 |
Lethality, FAM189A1-related |
1 |
Animal disease only
|
|
| 2260 |
Lethality, COL6A3-related |
1 |
Drug
|
58.2 |
| 2261 |
Lethality, ITGA3-related |
1 |
Target evidence
|
57.3 |
| 2262 |
Lethality, CSNK1G2-related |
1 |
Animal disease only
|
|
| 2263 |
Vestibular disease |
2 |
Animal disease only
|
|
| 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 |
| 2268 |
Vitamin C deficiency |
2 |
Human disease
|
9.0 |
| 2269 |
Epidermolysis bullosa, junctionalis, LAMB3-related |
2 |
Drug
|
62.4 |
| 2271 |
Immunodeficiency, IL17RA-related |
1 |
Drug
|
62.5 |
| 2272 |
Thrombasthenia, atypical, SEL1L-related |
1 |
Animal disease only
|
|
| 2274 |
Muscular dystrophy, Ullrich type, COL6A3-related |
1 |
Drug
|
56.1 |
| 2279 |
Ataxia, spinocerebellar, SLC12A6-related |
1 |
Target evidence
|
57.5 |
| 2280 |
Coat colour, albinism, generic |
40 |
Animal disease only
|
|
| 2281 |
Epidermolysis bullosa, simplex, KRT14-related |
1 |
Human disease
|
9.0 |
| 2282 |
Retinal atrophy, progressive, PDE6B-related |
1 |
Human gene
|
29.0 |
| 2283 |
Arthrogryposis multiplex congenita, KIF21A-related |
1 |
Human gene
|
29.0 |
| 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 |
| 2290 |
Intersex: XX, SRY-negative (redundant) |
1 |
Animal disease only
|
|
| 2291 |
Maxillary canine-tooth mesioversion |
1 |
Animal disease only
|
|
| 2293 |
Phenylketonuria |
1 |
Human disease
|
35.0 |
| 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 |
| 2300 |
Anaemia, congenital dyserythropoietic |
1 |
Human disease
|
24.0 |
| 2301 |
Laryngeal paralysis and polyneuropathy, CNTNAP1-related |
1 |
Human gene
|
29.0 |
| 2303 |
Cerebral dysgenesis, PEA15 related |
1 |
Animal disease only
|
|
| 2304 |
Cardiomyopathy, hypertrophic, TNNT2-related |
1 |
Human disease
|
9.0 |
| 2305 |
Muscular dystrophy, limb-girdle, type R3 (LGMDR3) |
1 |
Target evidence
|
63.2 |
| 2306 |
Fecundity, BMP15-related |
4 |
Human gene
|
29.0 |
