| 2536 |
Cataract, FYCO1-related |
1 |
Human gene
|
29.0 |
| 2537 |
Encephalopathy, STXBP1-related |
1 |
Human disease
|
5.0 |
| 2538 |
Alzheimer disease, APP-related |
6 |
Human disease
|
10.0 |
| 2540 |
Chondrodysplasia, EVC2-related |
1 |
Target evidence
|
57.4 |
| 2544 |
GAPO syndrome |
1 |
Human disease
|
5.0 |
| 2550 |
Deafness, EPS8L2-related |
1 |
Human gene
|
29.0 |
| 2551 |
Mitochondrial fission encephalopathy |
1 |
Human gene
|
26.0 |
| 2552 |
Pancreatic agenesis, PDX1-related |
3 |
Human disease
|
30.0 |
| 2554 |
Osteochondromatosis, EXT1-related |
1 |
Target evidence
|
58.2 |
| 2557 |
Leber hereditary optic neuropathy |
1 |
Drug
|
77.5 |
| 2558 |
Chromosomal structural anomaly, translocation, reciprocal |
6 |
Human disease
|
15.0 |
| 2559 |
Persistent truncus arteriosus, GATA6-related |
1 |
Target evidence
|
50.3 |
| 2562 |
Biliary tract malformation, congenital |
1 |
Human disease
|
9.0 |
| 2565 |
Amastia, congenital |
2 |
Human disease
|
12.0 |
| 2567 |
Gallbladder, agenesis of |
1 |
Human disease
|
9.0 |
| 2580 |
Night blindness |
2 |
Human disease
|
34.5 |
| 2581 |
Pelvic organ prolapse, predisposition to |
6 |
Human disease
|
15.0 |
| 2582 |
Hepatocellular fibrinogen storage disease |
1 |
Human gene
|
26.5 |
| 2584 |
Deafness, CDH23-related |
1 |
Human gene
|
29.0 |
| 2585 |
Acyl-CoA dehydrogenase, medium chain, deficiency of |
1 |
Target evidence
|
78.9 |
| 2600 |
Amelogenesis imperfecta, FAM83H-related |
1 |
Human disease
|
10.0 |
| 2606 |
Skeletal dysplasia 3, PCYT1A-related |
1 |
Target evidence
|
57.2 |
| 2607 |
Pyknodysostosis |
1 |
Human disease
|
9.0 |
| 2610 |
Dacryocystitis |
1 |
Human disease
|
6.5 |
| 2611 |
Muscular dystrophy, limb-girdle, CAPN3-related |
1 |
Human disease
|
10.0 |
| 2614 |
Angelman syndrome |
1 |
Human disease
|
25.0 |
| 2615 |
Testicular agenesis |
1 |
Human disease
|
6.5 |
| 2616 |
Neuropathy, hereditary sensory and autonomic, SCN9A-related |
1 |
Human disease
|
14.0 |
| 2618 |
Nephropathy, COL4A4 related |
1 |
Drug
|
64.9 |
| 2619 |
Hypogonadotropic hypogonadism, KISS1-related |
1 |
Human disease
|
10.0 |
| 2621 |
Gaucher disease, type II |
1 |
Drug
|
64.7 |
| 2623 |
Ciliary dyskinesia, primary, STK36-related |
1 |
Target evidence
|
53.7 |
| 2624 |
Usher syndrome, USH2A-related |
1 |
Human disease
|
10.0 |
| 2626 |
Haplotype with homozygous deficiency JBH17, CDC45-related |
1 |
Human gene
|
29.0 |
| 2631 |
Delayed postoperative hemorrhage |
1 |
Target evidence
|
52.3 |
| 2632 |
Asthenoteratozoospermia, SSX1-related |
2 |
Human disease
|
5.0 |
| 2634 |
Meningioma |
3 |
Human disease
|
15.0 |
| 2636 |
Anterior segment dysgenesis |
3 |
Human disease
|
15.0 |
| 2646 |
Retinal atrophy, progressive, GUCY2D-related |
1 |
Target evidence
|
57.4 |
| 2658 |
Macrocephaly, CHD8-related |
1 |
Human disease
|
5.0 |
| 2659 |
Ichthyosis, non-epidermolytic, SDR9C7-related |
1 |
Target evidence
|
58.2 |
| 2663 |
Dystonia-ataxia syndrome, paroxysmal, TNR-related |
1 |
Target evidence
|
56.1 |
| 2664 |
Spondylolisthesis |
1 |
Human disease
|
34.0 |
| 2671 |
Asthma, predisposition to |
3 |
Human disease
|
12.0 |
| 2676 |
RAD50 double-stranded break point repair protein deficiency |
1 |
Human disease
|
5.0 |
| 2681 |
Leukaemia, chronic lymphocytic |
1 |
Human disease
|
34.0 |
| 2682 |
Elliptocytosis, EPB41-related |
1 |
Human gene
|
34.0 |
| 2683 |
Fanconi syndrome, FAN1-related |
1 |
Target evidence
|
57.0 |
| 2686 |
Colour vision, deficiency |
13 |
Human disease
|
15.0 |
| 2688 |
Microcephaly, YIPF5-related |
1 |
Human disease
|
10.0 |
