| 2689 |
Cor triatriatum sinister |
3 |
Human disease
|
12.5 |
| 2692 |
Night blindness, congenital stationary, GRM6-related |
1 |
Human gene
|
34.0 |
| 2694 |
Craniofacial deformities, SOX9-related |
1 |
Human disease
|
5.0 |
| 2702 |
Spondyloocular syndrome |
1 |
Human disease
|
30.0 |
| 2706 |
Macroglobulinaemia, Waldenström |
1 |
Human disease
|
9.0 |
| 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 |
| 2723 |
Retinal atrophy, progressive, CNGB1-related |
1 |
Human disease
|
9.0 |
| 2725 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
1 |
Human disease
|
14.0 |
| 2727 |
Polyneuropathy, hypomyelinating, MTMR2-related |
1 |
Target evidence
|
60.6 |
| 2728 |
PCYT2 deficiency |
1 |
Target evidence
|
56.0 |
| 2729 |
Thoracoabdominal syndrome |
1 |
Human disease
|
9.0 |
| 2730 |
Pulmonary valve dysplasia |
1 |
Human disease
|
9.0 |
| 2735 |
Cataract, GJA8-related |
1 |
Human disease
|
10.0 |
| 2739 |
Polyneuropathy, hypomyelinating, MPZ-related |
1 |
Target evidence
|
58.2 |
| 2740 |
Polyneuropathy, hypomyelinating, SH3TC2-related |
1 |
Target evidence
|
57.3 |
| 2748 |
Parkinson disease, PRKN-related |
2 |
Human disease
|
5.0 |
| 2752 |
Cardiac defects, MYRF-related |
1 |
Human disease
|
5.0 |
| 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 |
| 2763 |
Severe combined immunodeficiency disease, IL2RG and RAG1-related |
1 |
Human disease
|
17.5 |
| 2772 |
Frontotemporal dementia, MAPT-related |
2 |
Drug
|
66.3 |
| 2775 |
Persistent Mullerian duct syndrome, AMHR2-related |
1 |
Human disease
|
9.0 |
| 2776 |
Sex chromosome difference of sexual development, generic |
16 |
Human disease
|
15.0 |
| 2777 |
XY difference of sexual development, HSD17B3-related |
1 |
Human disease
|
14.0 |
| 2780 |
Ataxia, spastic, SACS-related |
1 |
Target evidence
|
63.8 |
| 2782 |
Cholelithiasis, predisposition to |
3 |
Human disease
|
15.0 |
| 2783 |
Dens evaginatus |
1 |
Human disease
|
14.0 |
| 2786 |
Lipid storage disease |
1 |
Human disease
|
6.5 |
| 2790 |
Adrenal hyperplasia, congenital, CYP17A1-related |
1 |
Human disease
|
10.0 |
| 2792 |
Dentinogenesis imperfecta |
1 |
Human disease
|
6.5 |
| 2793 |
Epidermolysis bullosa, junctionalis, COL17A1-related |
1 |
Target evidence
|
61.2 |
| 2796 |
Cardiomyopathy, dilated, LMNA-related |
2 |
Target evidence
|
61.8 |
| 2797 |
Polyendocrine syndrome |
1 |
Human disease
|
24.0 |
| 2811 |
Multiple ocular defects, COL11A1-related |
1 |
Drug
|
65.2 |
| 2814 |
Polioencephalopathy, MECR-related |
1 |
Target evidence
|
57.1 |
| 2816 |
Mastocytosis, cutaneous |
1 |
Human disease
|
29.0 |
| 2819 |
Muscle weakness, CACNA1S-related |
1 |
Drug
|
58.3 |
| 2824 |
Tricuspid valve atresia |
1 |
Human disease
|
14.0 |
| 2834 |
Spondyloepiphyseal dysplasia tarda |
1 |
Human disease
|
9.0 |
| 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 |
| 2851 |
PDCD1-deficiency |
1 |
Human disease
|
5.0 |
