| 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 |
| 2322 |
Dyskinesia, paroxysmal, SOD1-related |
1 |
Human gene
|
29.0 |
| 2325 |
Encephalopathy, ASPA-related |
1 |
Target evidence
|
73.9 |
| 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 |
| 2342 |
Ciliary dyskinesia, primary, CCDC65-related |
1 |
Human gene
|
29.0 |
| 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 |
| 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 |
| 2381 |
Skeletal-cardio-enteric dysplasia, MAP2K2-related |
1 |
Human gene
|
29.0 |
| 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 |
| 2445 |
Xanthinuria, type I |
2 |
Drug
|
60.2 |
| 2459 |
Congenital muscular dystrophy, LAMA2-related |
1 |
Drug
|
60.3 |
| 2460 |
Muscular dystrophy-dystroglycanopathy, LARGE1-related |
1 |
Target evidence
|
56.3 |
| 2465 |
Dental-skeletal-retinal anomaly, MIA3-related |
2 |
Target evidence
|
45.5 |
| 2469 |
Retinopathy, RDH5-related |
1 |
Target evidence
|
58.4 |
| 2479 |
Hemifacial microsomia, LAMB1-related |
1 |
Human gene
|
29.0 |
| 2484 |
Bardet-Biedl syndrome 2 |
1 |
Target evidence
|
55.7 |
| 2509 |
Haplotype with homozygous deficiency SH9, NUBPL-related |
1 |
Target evidence
|
54.0 |
| 2522 |
Ataxia, HACE1-related |
1 |
Target evidence
|
56.4 |
| 2533 |
Osteogenesis imperfecta, CREB3L1-related |
1 |
Human gene
|
29.0 |
| 2534 |
Centronuclear myopathy 1, DNM2-related |
1 |
Target evidence
|
58.6 |
| 2535 |
Cataract, ADAMTSL4-related |
1 |
Human gene
|
29.0 |
| 2536 |
Cataract, FYCO1-related |
1 |
Human gene
|
29.0 |
| 2540 |
Chondrodysplasia, EVC2-related |
1 |
Target evidence
|
57.4 |
| 2550 |
Deafness, EPS8L2-related |
1 |
Human gene
|
29.0 |
| 2551 |
Mitochondrial fission encephalopathy |
1 |
Human gene
|
26.0 |
| 2554 |
Osteochondromatosis, EXT1-related |
1 |
Target evidence
|
58.2 |
| 2557 |
Leber hereditary optic neuropathy |
1 |
Drug
|
77.5 |
| 2559 |
Persistent truncus arteriosus, GATA6-related |
1 |
Target evidence
|
50.3 |
| 2582 |
Hepatocellular fibrinogen storage disease |
1 |
Human gene
|
26.5 |
| 2584 |
Deafness, CDH23-related |
1 |
Human gene
|
29.0 |
