| 2035 |
Abortion (embryonic lethality), OBFC1-related |
1 |
Human gene
|
29.0 |
| 2041 |
Abortion (embryonic lethality), RPIA-related |
1 |
Target evidence
|
55.4 |
| 2045 |
Bardet-Biedl syndrome 4 |
1 |
Human gene
|
34.0 |
| 2064 |
Autoimmune lymphoproliferative syndrome, FASLG-related |
1 |
Drug
|
56.0 |
| 2068 |
Dwarfism, B4GALT7-related |
1 |
Human gene
|
29.0 |
| 2071 |
Macular corneal dystrophy |
1 |
Target evidence
|
56.4 |
| 2072 |
Myasthenic syndrome, congenital, CHAT-related |
1 |
Human gene
|
34.0 |
| 2080 |
Epidermolysis bullosa, simplex, PLEC-related |
1 |
Target evidence
|
56.7 |
| 2081 |
Epidermolysis bullosa simplex, KRT5-related |
3 |
Target evidence
|
61.9 |
| 2084 |
Dyskinesia, paroxysmal, PIGN-related |
1 |
Target evidence
|
57.5 |
| 2089 |
Ataxia, cerebellar, KCNJ10-related |
1 |
Target evidence
|
63.3 |
| 2090 |
Facial dysplasia syndrome |
1 |
Drug
|
61.8 |
| 2092 |
Ataxia, spinocerebellar, SPTBN2-related |
1 |
Target evidence
|
57.0 |
| 2096 |
Naked foal syndrome |
1 |
Target evidence
|
56.3 |
| 2097 |
Ataxia, spinocerebellar, ITPR1-related |
1 |
Target evidence
|
57.9 |
| 2105 |
Neuroaxonal dystrophy, PLA2G6-related |
2 |
Target evidence
|
79.5 |
| 2109 |
Tricho-dento-osseous-like syndrome |
1 |
Target evidence
|
58.3 |
| 2111 |
Cataract, recessive, CPAMD8-related |
1 |
Human gene
|
34.0 |
| 2112 |
Osteogenesis imperfecta, COL1A2-related |
2 |
Drug
|
64.1 |
| 2114 |
Hypotrichosis, KRT71-related |
1 |
Human gene
|
29.0 |
| 2116 |
Coat colour, albinism, oculocutaneous, HPS5-related |
3 |
Human gene
|
32.0 |
| 2117 |
Verrucous epidermal keratinocytic nevi |
2 |
Target evidence
|
60.2 |
| 2120 |
Polyneuropathy, NDRG1-related |
1 |
Target evidence
|
55.0 |
| 2122 |
Muscular dystrophy, limb-girdle, type R6 (LGMDR6) |
1 |
Target evidence
|
60.9 |
| 2125 |
Neurocristopathy |
1 |
Target evidence
|
59.5 |
| 2126 |
Osteogenesis imperfecta, type III, COL1A1-related |
1 |
Drug
|
60.7 |
| 2127 |
Osteogenesis imperfecta, type II, COL1A1-related |
2 |
Drug
|
64.1 |
| 2128 |
Anhidrotic ectodermal dysplasia, EDAR-related |
1 |
Target evidence
|
55.6 |
| 2130 |
Oculocutaneous albinism, OCA2-related |
8 |
Target evidence
|
69.9 |
| 2131 |
Methaemoglobinaemia, CYB5R3-related |
2 |
Target evidence
|
62.6 |
| 2140 |
Exercise induced metabolic myopathy |
2 |
Target evidence
|
77.3 |
| 2145 |
Colorectal cancer, MLH1-related |
1 |
Target evidence
|
52.0 |
| 2148 |
Deafness, bilateral, and vestibular dysfunction, MYO7A-related |
2 |
Target evidence
|
61.2 |
| 2150 |
Syndrome des veaux tourneurs (Turning calves syndrome) |
1 |
Target evidence
|
55.5 |
| 2151 |
Microphthalmia, isolated, with coloboma |
1 |
Target evidence
|
56.5 |
| 2152 |
Neuroaxonal dystrophy, VPS11-related |
1 |
Target evidence
|
54.4 |
| 2153 |
Neuroaxonal dystrophy, MFN2-related |
1 |
Target evidence
|
58.7 |
| 2160 |
Colorectal cancer, hereditary nonpolyposis, MSH6-related |
1 |
Human gene
|
29.0 |
| 2161 |
Leg weakness, MSTN-related |
1 |
Drug
|
49.1 |
| 2162 |
Hypophosphatasia |
2 |
Human gene
|
29.0 |
| 2163 |
Cone dystrophy 4, PDE6C-related |
1 |
Human gene
|
34.0 |
| 2165 |
classical Ehlers-Danlos syndrome (cEDS), COL5A1-related |
2 |
Drug
|
67.2 |
| 2171 |
Ameloblastoma |
2 |
Drug
|
59.3 |
| 2173 |
Diffuse cystic renal dysplasia and hepatic fibrosis |
1 |
Target evidence
|
58.1 |
| 2174 |
Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related |
1 |
Target evidence
|
59.3 |
| 2176 |
Meckel-like hepatorenal fibrocystic dysplasia syndrome |
1 |
Target evidence
|
57.8 |
| 2177 |
Amelogenesis imperfecta, ACP4-related |
1 |
Target evidence
|
60.4 |
| 2178 |
Abortion, BBS9 and BMPER-related |
1 |
Target evidence
|
54.8 |
| 2179 |
Stargardt disease 1 |
3 |
Target evidence
|
78.2 |
| 2181 |
Abortion, POLR1B-related |
1 |
Target evidence
|
55.3 |
