| 2114 |
Hypotrichosis, KRT71-related |
1 |
Human gene
|
29.0 |
| 2115 |
Stereotypical hypersociability |
2 |
Human disease
|
24.0 |
| 2116 |
Coat colour, albinism, oculocutaneous, HPS5-related |
3 |
Human gene
|
32.0 |
| 2117 |
Verrucous epidermal keratinocytic nevi |
2 |
Target evidence
|
60.2 |
| 2118 |
Pectinate ligament dysplasia |
1 |
Animal disease only
|
|
| 2119 |
Polyneuropathy, GJA9-related |
1 |
Animal disease only
|
|
| 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 |
| 2132 |
Lethality, BTBD17-related |
1 |
Animal disease only
|
|
| 2133 |
Skeletal dysplasia, FGF4-retrogene-related |
1 |
Animal disease only
|
|
| 2134 |
Haplotype with homozygous deficiency AH2 |
1 |
Animal disease only
|
|
| 2135 |
Arthrogryposis multiplex congenita, AGRN-related |
1 |
Animal disease only
|
|
| 2136 |
Goldenhar syndrome |
1 |
Human disease
|
9.0 |
| 2137 |
Nemaline myopathy, NEB-related |
1 |
Human disease
|
14.0 |
| 2138 |
Cerebral amyloid angiopathy |
2 |
Human disease
|
12.0 |
| 2139 |
Coat colour, Leopard Complex Spotting |
1 |
Human disease
|
9.0 |
| 2140 |
Exercise induced metabolic myopathy |
2 |
Target evidence
|
77.3 |
| 2141 |
Myositis, immune-mediated |
1 |
Human disease
|
9.0 |
| 2142 |
Macular degeneration, age-related |
1 |
Human disease
|
9.0 |
| 2143 |
Macrothrombocytopenia |
1 |
Animal disease only
|
|
| 2144 |
Medetomidine insensitivity |
1 |
Animal disease only
|
|
| 2145 |
Colorectal cancer, MLH1-related |
1 |
Target evidence
|
52.0 |
| 2146 |
Acrodermatitis, lethal, MKLN1-related |
1 |
Animal disease only
|
|
| 2147 |
Leigh syndrome, SURF1-related |
1 |
Human disease
|
20.0 |
| 2148 |
Deafness, bilateral, and vestibular dysfunction, MYO7A-related |
2 |
Target evidence
|
61.2 |
| 2149 |
Haplotype with homozygous deficiency HH6 |
1 |
Animal disease only
|
|
| 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 |
| 2157 |
Ectodermal dysplasia-9 |
2 |
Human disease
|
10.0 |
| 2158 |
Developmental retardation |
1 |
Animal disease only
|
|
| 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 |
| 2167 |
Asthenospermia |
1 |
Animal disease only
|
|
| 2168 |
Bald thigh syndrome |
1 |
Animal disease only
|
|
| 2169 |
Sudden acquired retinal degeneration syndrome, SARDS |
1 |
Animal disease only
|
|
| 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 |
| 2175 |
Curly coat, SP6-related |
1 |
Animal disease only
|
|
