| 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 |
| 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 |
| 2534 |
Centronuclear myopathy 1, DNM2-related |
1 |
Target evidence
|
58.6 |
| 2540 |
Chondrodysplasia, EVC2-related |
1 |
Target evidence
|
57.4 |
| 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 |
| 2585 |
Acyl-CoA dehydrogenase, medium chain, deficiency of |
1 |
Target evidence
|
78.9 |
| 2606 |
Skeletal dysplasia 3, PCYT1A-related |
1 |
Target evidence
|
57.2 |
| 2618 |
Nephropathy, COL4A4 related |
1 |
Drug
|
64.9 |
| 2621 |
Gaucher disease, type II |
1 |
Drug
|
64.7 |
| 2623 |
Ciliary dyskinesia, primary, STK36-related |
1 |
Target evidence
|
53.7 |
| 2631 |
Delayed postoperative hemorrhage |
1 |
Target evidence
|
52.3 |
| 2646 |
Retinal atrophy, progressive, GUCY2D-related |
1 |
Target evidence
|
57.4 |
| 2659 |
Ichthyosis, non-epidermolytic, SDR9C7-related |
1 |
Target evidence
|
58.2 |
| 2663 |
Dystonia-ataxia syndrome, paroxysmal, TNR-related |
1 |
Target evidence
|
56.1 |
| 2683 |
Fanconi syndrome, FAN1-related |
1 |
Target evidence
|
57.0 |
| 2710 |
Cardiomyopathy, dilated, ABCC9-related |
1 |
Drug
|
62.2 |
| 2717 |
Frontonasal dysplasia, ALX1-related |
1 |
Target evidence
|
60.9 |
| 2718 |
Epidermolysis bullosa, junctional, ITGA6-related |
1 |
Target evidence
|
50.8 |
| 2727 |
Polyneuropathy, hypomyelinating, MTMR2-related |
1 |
Target evidence
|
60.6 |
| 2728 |
PCYT2 deficiency |
1 |
Target evidence
|
56.0 |
| 2739 |
Polyneuropathy, hypomyelinating, MPZ-related |
1 |
Target evidence
|
58.2 |
| 2740 |
Polyneuropathy, hypomyelinating, SH3TC2-related |
1 |
Target evidence
|
57.3 |
| 2755 |
Hyperbilirubinaemia, SLCO1B3-related |
1 |
Target evidence
|
49.3 |
| 2757 |
Ataxia, cerebellar, RALGAPA1-related |
1 |
Target evidence
|
54.9 |
| 2772 |
Frontotemporal dementia, MAPT-related |
2 |
Drug
|
66.3 |
| 2780 |
Ataxia, spastic, SACS-related |
1 |
Target evidence
|
63.8 |
| 2793 |
Epidermolysis bullosa, junctionalis, COL17A1-related |
1 |
Target evidence
|
61.2 |
| 2796 |
Cardiomyopathy, dilated, LMNA-related |
2 |
Target evidence
|
61.8 |
| 2811 |
Multiple ocular defects, COL11A1-related |
1 |
Drug
|
65.2 |
| 2814 |
Polioencephalopathy, MECR-related |
1 |
Target evidence
|
57.1 |
| 2819 |
Muscle weakness, CACNA1S-related |
1 |
Drug
|
58.3 |
| 2835 |
Immunodeficiency, CARMIL2-related |
1 |
Target evidence
|
56.3 |
| 2838 |
Pontocerebellar hypoplasia, AMPD2-related |
1 |
Target evidence
|
62.4 |
| 2840 |
Leigh syndrome, NDUFS7-related |
1 |
Drug
|
68.2 |
| 2846 |
Spinocerebellar ataxia, juvenile, FDXR-related |
1 |
Target evidence
|
54.5 |
| 2848 |
Spermatogenic failure, QRICH2-related |
1 |
Target evidence
|
36.7 |
| 2849 |
Methylmalonic-coA mutase deficiency |
1 |
Target evidence
|
57.9 |
| 2862 |
Haplotype with homozygous deficiency, SLC33A1-related |
1 |
Target evidence
|
54.3 |
| 2876 |
Neuroaxonal dystrophy, RNF170-related |
1 |
Target evidence
|
59.2 |
| 2912 |
Ciliopathy, CPLANE1-related |
1 |
Target evidence
|
56.3 |
| 2916 |
Charcot-Marie-Tooth disease, ITPR3-related |
1 |
Target evidence
|
57.0 |
| 2917 |
Hyperbiliverdinaemia |
1 |
Target evidence
|
55.6 |
