| 2852 |
Nasolacrimal duct obstruction |
6 |
Human disease
|
15.0 |
| 2855 |
Hypoxanthine guanine phosphoribosyltransferase deficiency |
1 |
Human disease
|
25.0 |
| 2858 |
Methaemoglobinaemia, CYB5A-related |
1 |
Human gene
|
21.0 |
| 2862 |
Haplotype with homozygous deficiency, SLC33A1-related |
1 |
Target evidence
|
54.3 |
| 2864 |
Cardiomyopathy, left ventricular noncompaction |
2 |
Human disease
|
12.0 |
| 2870 |
Myelodysplastic syndrome |
2 |
Human disease
|
42.0 |
| 2876 |
Neuroaxonal dystrophy, RNF170-related |
1 |
Target evidence
|
59.2 |
| 2878 |
Diabetes mellitus, HNF1A-related |
1 |
Human disease
|
10.0 |
| 2885 |
Ciliary dyskinesia, primary, DNAI1-related |
1 |
Human disease
|
5.0 |
| 2886 |
Long QT syndrome, CACNA1C-related |
1 |
Human disease
|
5.0 |
| 2887 |
Ectodermal dysplasia, EDARADD-related |
3 |
Human disease
|
5.0 |
| 2891 |
Lissencephaly, DCX-related |
1 |
Human disease
|
10.0 |
| 2892 |
Microcephaly, ASPM-related |
1 |
Human disease
|
5.0 |
| 2894 |
Woodhouse-Sakati syndrome |
1 |
Human disease
|
5.0 |
| 2902 |
Osteochondrodysplastic and cardiomyopathic syndrome |
1 |
Human disease
|
9.0 |
| 2909 |
Ataxia, episodic |
1 |
Human disease
|
6.5 |
| 2910 |
Sjogren syndrome |
2 |
Human disease
|
42.0 |
| 2912 |
Ciliopathy, CPLANE1-related |
1 |
Target evidence
|
56.3 |
| 2914 |
Cystic eye, congenital |
1 |
Human disease
|
6.5 |
| 2916 |
Charcot-Marie-Tooth disease, ITPR3-related |
1 |
Target evidence
|
57.0 |
| 2917 |
Hyperbiliverdinaemia |
1 |
Target evidence
|
55.6 |
| 2920 |
Precocious puberty, MKRN3-related |
1 |
Human disease
|
10.0 |
| 2922 |
Ataxia with isolated vitamin E deficiency |
1 |
Target evidence
|
62.8 |
| 2924 |
Anhidrosis, generic |
1 |
Human disease
|
9.0 |
| 2926 |
Retinal atrophy, progressive, GTPBP2-related |
1 |
Target evidence
|
56.0 |
| 2929 |
Nephronophthisis |
2 |
Human disease
|
12.0 |
| 2933 |
Aortic valve stenosis, generic |
1 |
Human disease
|
9.0 |
| 2939 |
Epileptic encephalopathy, CAD-related |
1 |
Target evidence
|
57.1 |
| 2948 |
Adrenal hyperplasia, congenital, CYP21A2-related |
1 |
Human disease
|
30.0 |
| 2949 |
Gamatogenic failure, TERB1-related |
1 |
Human disease
|
5.0 |
| 2950 |
Mitochondrial DNA depletion syndrome, MPV17-related |
1 |
Human disease
|
5.0 |
| 2951 |
Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal dominant |
1 |
Target evidence
|
58.5 |
| 2952 |
Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal recessive |
1 |
Target evidence
|
58.5 |
| 2953 |
Cardiomyopathy, hypertrophic, MYH6-related |
1 |
Human disease
|
5.0 |
| 2954 |
Neutrophilic dermatosis |
1 |
Human disease
|
9.0 |
| 2955 |
Adrenoleukodystrophy, ABCD1-related |
1 |
Human disease
|
30.0 |
| 2957 |
Anophthalmia/microphthalmia, GJA8-related |
1 |
Human gene
|
21.0 |
| 2958 |
Rhizomelic chondrodysplasia punctata, GNPAT-related |
1 |
Target evidence
|
42.0 |
| 2962 |
Hyperoxaluria, generic |
1 |
Human disease
|
34.0 |
| 2964 |
Thrombocytopenia, DUT-related |
1 |
Human disease
|
5.0 |
| 2966 |
Intestinal volvulus |
1 |
Human disease
|
9.0 |
| 2967 |
Plasminogen activator inhibitor-1 deficiency, SERPINE1-related |
1 |
Drug
|
75.5 |
| 2969 |
Hypothalamic hamartoma |
1 |
Human disease
|
6.5 |
| 2973 |
Rhizomelic chondrodysplasia punctata, PEX7-related |
1 |
Human disease
|
14.0 |
| 2976 |
Macular dystrophy, BEST1-related |
1 |
Target evidence
|
58.6 |
| 2977 |
Lipase deficiency, combined, LMF1-related |
1 |
Human disease
|
9.0 |
| 2978 |
Xanthomatosis |
1 |
Human disease
|
9.0 |
| 2982 |
Aneuploidy, trisomy, sex chromosome XXY |
7 |
Human disease
|
34.0 |
| 3005 |
Infertility, ZP1-related |
1 |
Human disease
|
10.0 |
| 3006 |
Cholesteryl ester storage disease |
1 |
Human disease
|
34.0 |
