| 2383 |
Ornithine transcarbamylase deficiency |
1 |
Human disease
|
30.0 |
| 2384 |
Hypercalciuria, idiopathic |
1 |
Human disease
|
11.5 |
| 2393 |
Keratoconjunctivitis sicca |
1 |
Human disease
|
31.5 |
| 2399 |
Cryptophthalmos |
1 |
Human disease
|
9.0 |
| 2402 |
Phelan-McDermid syndrome |
2 |
Human disease
|
25.0 |
| 2403 |
Choroid plexus tumour |
1 |
Human disease
|
9.0 |
| 2404 |
Cutis laxa |
1 |
Human disease
|
11.5 |
| 2406 |
Rett syndrome, MECP2-related |
3 |
Target evidence
|
84.9 |
| 2409 |
Vitreous degeneration |
2 |
Human disease
|
9.5 |
| 2412 |
Bicuspid aortic valve |
2 |
Human disease
|
12.0 |
| 2413 |
Deafness, OTOF-related |
2 |
Human disease
|
5.0 |
| 2420 |
Sacral agenesis |
2 |
Human disease
|
12.0 |
| 2425 |
Ichthyosis, KRT1-related |
1 |
Human disease
|
9.0 |
| 2427 |
Tuberous sclerosis, TSC1-related |
1 |
Human disease
|
5.0 |
| 2432 |
Neuronal ceroid lipofuscinosis, 3 |
2 |
Target evidence
|
75.6 |
| 2433 |
Thrombopathia, RASGRP2-related |
2 |
Target evidence
|
64.2 |
| 2434 |
Thrombocytopenia, TUBB1-related |
1 |
Human disease
|
9.0 |
| 2435 |
Sperm, short tail, SPEF2-related |
1 |
Target evidence
|
53.5 |
| 2439 |
Deafness, GJB2-related |
1 |
Human disease
|
5.0 |
| 2441 |
Short QT syndrome, KCNH2-related |
1 |
Human disease
|
5.0 |
| 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 |
| 2453 |
Waardenburg syndrome, SOX10-related |
1 |
Human disease
|
5.0 |
| 2454 |
Olivopontocerebellar degeneration with 3-hydroxy-3-methylglutaric aciduria |
1 |
Human disease
|
9.0 |
| 2455 |
Fragile X syndrome, FMR1-related |
2 |
Human disease
|
29.0 |
| 2459 |
Congenital muscular dystrophy, LAMA2-related |
1 |
Drug
|
60.3 |
| 2460 |
Muscular dystrophy-dystroglycanopathy, LARGE1-related |
1 |
Target evidence
|
56.3 |
| 2464 |
Cryopyrin-associated periodic syndrome, NLRP3-related |
1 |
Human disease
|
30.0 |
| 2465 |
Dental-skeletal-retinal anomaly, MIA3-related |
2 |
Target evidence
|
45.5 |
| 2469 |
Retinopathy, RDH5-related |
1 |
Target evidence
|
58.4 |
| 2473 |
Ataxia, spinocerebellar, ATXN3-related |
1 |
Human disease
|
22.5 |
| 2476 |
Lymphangiosarcoma |
1 |
Human disease
|
21.5 |
| 2479 |
Hemifacial microsomia, LAMB1-related |
1 |
Human gene
|
29.0 |
| 2480 |
Myopathy, atypical |
1 |
Human disease
|
9.0 |
| 2484 |
Bardet-Biedl syndrome 2 |
1 |
Target evidence
|
55.7 |
| 2485 |
Skeletal dysplasia, LTBP3-related |
1 |
Human disease
|
9.0 |
| 2488 |
Parkinson disease, PARK7-related |
3 |
Human disease
|
5.0 |
| 2491 |
Amyotrophic lateral sclerosis, SOD1-related |
1 |
Human disease
|
5.0 |
| 2492 |
Amyotrophic lateral sclerosis, TARDBP-related |
3 |
Human disease
|
5.0 |
| 2493 |
Alzheimer disease, PSEN1-related |
3 |
Human disease
|
10.0 |
| 2500 |
Azoospermia |
1 |
Human disease
|
6.5 |
| 2509 |
Haplotype with homozygous deficiency SH9, NUBPL-related |
1 |
Target evidence
|
54.0 |
| 2520 |
Agenesis, pulmonary |
1 |
Human disease
|
9.0 |
| 2522 |
Ataxia, HACE1-related |
1 |
Target evidence
|
56.4 |
| 2525 |
Polycystic kidney disease-2 |
2 |
Human disease
|
14.0 |
| 2529 |
Dysplastic gangliocytoma of the cerebellum |
1 |
Human disease
|
9.0 |
| 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 |
