| 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 |
| 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 |
| 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 |
| 2307 |
Frontonasal dysplasia, ZIC2-related |
1 |
Target evidence
|
57.6 |
| 2308 |
Cardiomyopathy, X-linked dilated |
1 |
Drug
|
59.0 |
| 2309 |
Cataract, MIP-related |
1 |
Human gene
|
29.0 |
| 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 |
| 2320 |
Retinal atrophy, progressive, IFT122-related |
1 |
Human gene
|
29.0 |
| 2321 |
Leukodystrophy, hypomyelinating |
1 |
Human disease
|
6.5 |
| 2322 |
Dyskinesia, paroxysmal, SOD1-related |
1 |
Human gene
|
29.0 |
| 2325 |
Encephalopathy, ASPA-related |
1 |
Target evidence
|
73.9 |
| 2329 |
Hypercholesterolaemia, PCSK9-related |
2 |
Human disease
|
5.0 |
| 2330 |
Myopathy, myofibrillar |
1 |
Human disease
|
9.0 |
| 2331 |
Cardiomyopathy, TNNI3-related |
2 |
Human disease
|
9.0 |
| 2332 |
Long QT syndrome, KCNQ1-related |
2 |
Drug
|
69.3 |
| 2333 |
Long QT syndrome, KCNH2-related |
1 |
Human gene
|
29.0 |
| 2334 |
Long QT syndrome, KCNE1-related |
1 |
Target evidence
|
57.0 |
| 2335 |
Prostate cancer |
1 |
Human disease
|
31.5 |
| 2336 |
Deafness, LOXHD1-related |
1 |
Human disease
|
9.0 |
| 2342 |
Ciliary dyskinesia, primary, CCDC65-related |
1 |
Human gene
|
29.0 |
| 2348 |
Retinal dysplasia, NDP-related |
1 |
Human disease
|
9.0 |
| 2355 |
Prostatic hyperplasia, benign |
1 |
Human disease
|
34.0 |
| 2360 |
Deafness, OSBPL2-related |
1 |
Human disease
|
5.0 |
| 2361 |
Parkinson disease, PINK1-related |
3 |
Human gene
|
29.0 |
| 2365 |
Cardiomyopathy, dilated, RBM20-related |
2 |
Target evidence
|
58.2 |
| 2368 |
Ichthyosis, ABHD5-related |
1 |
Target evidence
|
57.8 |
| 2369 |
Hygroma, cystic |
1 |
Human disease
|
9.0 |
| 2371 |
Microcephaly, MFSD2A-related |
1 |
Target evidence
|
58.4 |
| 2372 |
Haemoglobinuria, paroxysmal nocturnal |
1 |
Human disease
|
5.0 |
| 2374 |
Charcot Marie Tooth disease, FGD4-related |
1 |
Target evidence
|
55.2 |
| 2375 |
Congenital disorder of glycosylation, GALNT2-related |
1 |
Target evidence
|
56.2 |
| 2378 |
Parkinson disease, SNCA-related |
4 |
Human disease
|
30.0 |
| 2379 |
Parkinson disease, LRRK2-related |
1 |
Human disease
|
5.0 |
| 2380 |
Thyroid follicular cell carcinoma, predisposition to |
1 |
Drug
|
33.1 |
| 2381 |
Skeletal-cardio-enteric dysplasia, MAP2K2-related |
1 |
Human gene
|
29.0 |
| 2382 |
Afibrinogenaemia, FGA-related |
1 |
Human disease
|
26.5 |
