| 2183 |
Abortion, PNKP-related |
1 |
Target evidence
|
57.0 |
| 2194 |
Ataxia, spinocerebellar, SCN8A-related |
1 |
Drug
|
61.0 |
| 2195 |
Cardiomyopathy, dilated, PLN-related |
2 |
Target evidence
|
56.4 |
| 2196 |
Deafness, unilateral and vestibular dysfunction, PTPRQ-related' |
1 |
Human gene
|
29.0 |
| 2198 |
Retinal atrophy, progressive, NECAP1-related |
1 |
Human gene
|
29.0 |
| 2201 |
Haplotype with homozygous deficiency NH7, CAD-related |
1 |
Target evidence
|
52.1 |
| 2207 |
Bernard-Soulier syndrome, type C |
1 |
Target evidence
|
62.8 |
| 2208 |
Eye malformation, SIX6-related |
1 |
Human gene
|
29.0 |
| 2210 |
Hypothyroidism, congenital, DUOX2-related |
1 |
Target evidence
|
58.7 |
| 2212 |
Cardiomyopathy, hypertrophic, MYH7-related |
3 |
Drug
|
61.0 |
| 2215 |
Leukodystrophy, TSEN54-related |
1 |
Target evidence
|
57.0 |
| 2216 |
Bardet-Biedl syndrome 7 |
1 |
Target evidence
|
57.5 |
| 2217 |
Hyperphagia leading to hepatic steatosis |
1 |
Drug
|
55.6 |
| 2219 |
Hypogonadotropic hypogonadism, TAC3-related |
1 |
Target evidence
|
50.0 |
| 2221 |
Vitamin D-deficiency rickets, type IB |
1 |
Human gene
|
34.0 |
| 2223 |
Interdigital hyperplasia |
1 |
Target evidence
|
57.4 |
| 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 |
| 2256 |
Cardiomyopathy and juvenile mortality |
1 |
Human gene
|
21.0 |
| 2258 |
Lethality, SOWAHB-related |
1 |
Human gene
|
29.0 |
| 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 |
| 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 |
| 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 |
| 2301 |
Laryngeal paralysis and polyneuropathy, CNTNAP1-related |
1 |
Human gene
|
29.0 |
