| 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 |
| 2626 |
Haplotype with homozygous deficiency JBH17, CDC45-related |
1 |
Human gene
|
29.0 |
| 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 |
| 2682 |
Elliptocytosis, EPB41-related |
1 |
Human gene
|
34.0 |
| 2683 |
Fanconi syndrome, FAN1-related |
1 |
Target evidence
|
57.0 |
| 2692 |
Night blindness, congenital stationary, GRM6-related |
1 |
Human gene
|
34.0 |
| 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 |
| 2759 |
Brachygnathia, WNT10B-related |
1 |
Human gene
|
29.0 |
| 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 |
| 2847 |
Microphthalmia with haematopoietic defects, DNAJC21-related |
1 |
Human gene
|
29.0 |
| 2848 |
Spermatogenic failure, QRICH2-related |
1 |
Target evidence
|
36.7 |
| 2849 |
Methylmalonic-coA mutase deficiency |
1 |
Target evidence
|
57.9 |
| 2858 |
Methaemoglobinaemia, CYB5A-related |
1 |
Human gene
|
21.0 |
| 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 |
| 2922 |
Ataxia with isolated vitamin E deficiency |
1 |
Target evidence
|
62.8 |
| 2926 |
Retinal atrophy, progressive, GTPBP2-related |
1 |
Target evidence
|
56.0 |
| 2939 |
Epileptic encephalopathy, CAD-related |
1 |
Target evidence
|
57.1 |
| 2951 |
Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal dominant |
1 |
Target evidence
|
58.5 |
| 2952 |
Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal recessive |
1 |
Target evidence
|
58.5 |
| 2957 |
Anophthalmia/microphthalmia, GJA8-related |
1 |
Human gene
|
21.0 |
| 2958 |
Rhizomelic chondrodysplasia punctata, GNPAT-related |
1 |
Target evidence
|
42.0 |
