| 1772 |
Skeletal dysplasia 2, COL11A2-related |
1 |
Drug
|
59.6 |
| 1777 |
Mammary tumour |
5 |
Drug
|
54.9 |
| 1795 |
Niemann-Pick disease, type A |
4 |
Target evidence
|
70.0 |
| 1818 |
Factor XIII deficiency, F13A1-related |
2 |
Drug
|
65.4 |
| 1819 |
Xanthinuria, type II |
2 |
Target evidence
|
64.4 |
| 1821 |
Coat colour, albinism, oculocutaneous type IV |
6 |
Target evidence
|
69.6 |
| 1864 |
Ectodermal dysplasia/skin fragility syndrome, PKP1-related |
1 |
Target evidence
|
60.9 |
| 1867 |
Lissencephaly and cerebellar hypoplasia, RELN-related |
2 |
Target evidence
|
64.5 |
| 1876 |
Retinal atrophy, progressive, SAG-related |
1 |
Target evidence
|
52.4 |
| 1879 |
Cystinuria, type II - A |
1 |
Target evidence
|
83.6 |
| 1880 |
Cystinuria, type II - B |
1 |
Target evidence
|
83.5 |
| 1887 |
Osteopetrosis with gingival hamartomas |
1 |
Target evidence
|
72.7 |
| 1888 |
Muscular dystrophy, Becker type |
3 |
Drug
|
93.7 |
| 1899 |
Incontinentia pigmenti |
1 |
Target evidence
|
63.1 |
| 1901 |
Haplotype with homozygous deficiency, RNASEH2B-related |
1 |
Target evidence
|
55.8 |
| 1916 |
Familial adenomatous polyposis |
3 |
Target evidence
|
66.4 |
| 1917 |
Polyneuropathy, ARHGEF10-related |
1 |
Target evidence
|
47.1 |
| 1919 |
Cleft palate 1, DLX6-related |
1 |
Target evidence
|
30.5 |
| 1926 |
Achondrogenesis, type II |
3 |
Drug
|
68.7 |
| 1931 |
Depigmentation associated with microphthalmia |
1 |
Target evidence
|
57.1 |
| 1934 |
Ptosis, intellectual disability, retarded growth and mortality (PIRM) syndrome (Haplotype AH1) |
1 |
Target evidence
|
57.0 |
| 1937 |
Cushing syndrome, ACTH-independent, adrenal-dependent hypercortisolism |
1 |
Target evidence
|
56.7 |
| 1938 |
Liver fibrosis, congenital, PKHD1-related |
1 |
Target evidence
|
55.7 |
| 1944 |
Spondylocostal dysostosis, autosomal recessive |
1 |
Target evidence
|
50.7 |
| 1948 |
Epidermolysis bullosa, junctionalis, ITGB4-related |
2 |
Target evidence
|
52.2 |
| 1949 |
Hypotrichosis, with thymic aplasia |
3 |
Target evidence
|
63.6 |
| 1951 |
Vertebral and spinal dysplasia |
1 |
Target evidence
|
48.3 |
| 1952 |
Microtia |
2 |
Target evidence
|
58.7 |
| 1953 |
Arthrogryposis, lethal syndrome |
1 |
Target evidence
|
54.1 |
| 1962 |
Neuronal ceroid lipofuscinosis, 7 |
4 |
Target evidence
|
69.5 |
| 1965 |
Cholesterol deficiency, APOB-related |
1 |
Drug
|
59.4 |
| 1967 |
Muscular dystrophy, Ullrich type, COL6A1-related |
1 |
Drug
|
59.1 |
| 1970 |
Polyneuropathy, RAB3GAP1-related |
1 |
Target evidence
|
57.2 |
| 1973 |
Ichthyosis, SLC27A4-related |
1 |
Target evidence
|
77.2 |
| 1975 |
Neuroaxonal dystrophy, TECPR2-related |
1 |
Target evidence
|
56.6 |
| 1976 |
Glaucoma, primary open angle, ADAMTS17-related |
1 |
Target evidence
|
53.7 |
| 1977 |
Retinal atrophy, progressive, CNGA1-related |
1 |
Target evidence
|
53.6 |
| 1978 |
Increased muscular tonus, congenital |
1 |
Target evidence
|
43.0 |
| 1986 |
Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation |
1 |
Target evidence
|
57.5 |
| 1987 |
Tail, short and kinked (Japanese bobtail) |
1 |
Target evidence
|
50.7 |
| 1990 |
Cancer, TP53-related |
5 |
Drug
|
84.9 |
| 2015 |
Dental hypomineralization |
1 |
Target evidence
|
58.3 |
| 2016 |
Van den Ende-Gupta syndrome |
1 |
Target evidence
|
61.1 |
| 2020 |
Ligneous membranitis |
1 |
Drug
|
69.5 |
| 2023 |
Cystinuria, type B |
1 |
Target evidence
|
83.5 |
| 2028 |
Myeloperoxidase deficiency |
1 |
Drug
|
63.4 |
| 2029 |
Retinitis pigmentosa 1 |
1 |
Target evidence
|
59.7 |
| 2034 |
Cerebellar cortical degeneration, SNX14-related |
1 |
Target evidence
|
57.0 |
| 2041 |
Abortion (embryonic lethality), RPIA-related |
1 |
Target evidence
|
55.4 |
| 2064 |
Autoimmune lymphoproliferative syndrome, FASLG-related |
1 |
Drug
|
56.0 |
