| 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 |
| 2180 |
Abortion, TADA2A-related |
1 |
Animal disease only
|
|
| 2181 |
Abortion, POLR1B-related |
1 |
Target evidence
|
55.3 |
| 2182 |
Abortion, URB1-related |
1 |
Animal disease only
|
|
| 2183 |
Abortion, PNKP-related |
1 |
Target evidence
|
57.0 |
| 2184 |
Haplotype with homozygous deficiency LA4 |
1 |
Animal disease only
|
|
| 2186 |
Screw tail |
1 |
Animal disease only
|
|
| 2187 |
Bilateral corneal stromal loss |
1 |
Animal disease only
|
|
| 2193 |
Ichthyosis, fetalis |
1 |
Human disease
|
9.0 |
| 2194 |
Ataxia, spinocerebellar, SCN8A-related |
1 |
Drug
|
61.0 |
| 2195 |
Cardiomyopathy, dilated, PLN-related |
2 |
Target evidence
|
56.4 |
| 2196 |
Deafness, unilateral and vestibular dysfunction, PTPRQ-related' |
1 |
Human gene
|
29.0 |
| 2198 |
Retinal atrophy, progressive, NECAP1-related |
1 |
Human gene
|
29.0 |
| 2201 |
Haplotype with homozygous deficiency NH7, CAD-related |
1 |
Target evidence
|
52.1 |
| 2202 |
Haplotype with homozygous deficiency NH8 |
1 |
Animal disease only
|
|
| 2203 |
classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related |
1 |
Human disease
|
14.0 |
| 2204 |
Leptin deficiency or dysfunction |
1 |
Human disease
|
14.0 |
| 2205 |
Recurrent inflammatory pulmonary disease |
1 |
Animal disease only
|
|
| 2206 |
Ciliary dyskinesia, primary, NME5-related |
1 |
Animal disease only
|
|
| 2207 |
Bernard-Soulier syndrome, type C |
1 |
Target evidence
|
62.8 |
| 2208 |
Eye malformation, SIX6-related |
1 |
Human gene
|
29.0 |
| 2210 |
Hypothyroidism, congenital, DUOX2-related |
1 |
Target evidence
|
58.7 |
| 2211 |
Cardiomyopathy, hypertrophic, SGCD-related |
2 |
Human disease
|
14.0 |
| 2212 |
Cardiomyopathy, hypertrophic, MYH7-related |
3 |
Drug
|
61.0 |
| 2214 |
Leukodystrophy, cavitating |
1 |
Animal disease only
|
|
| 2215 |
Leukodystrophy, TSEN54-related |
1 |
Target evidence
|
57.0 |
| 2216 |
Bardet-Biedl syndrome 7 |
1 |
Target evidence
|
57.5 |
| 2217 |
Hyperphagia leading to hepatic steatosis |
1 |
Drug
|
55.6 |
| 2218 |
Diamond-Blackfan anaemia 7 |
1 |
Animal disease only
|
|
| 2219 |
Hypogonadotropic hypogonadism, TAC3-related |
1 |
Target evidence
|
50.0 |
| 2221 |
Vitamin D-deficiency rickets, type IB |
1 |
Human gene
|
34.0 |
| 2222 |
Laryngeal paralysis, RAPGEF6-related |
1 |
Animal disease only
|
|
| 2223 |
Interdigital hyperplasia |
1 |
Target evidence
|
57.4 |
| 2224 |
Dermatitis, digital |
3 |
Animal disease only
|
|
| 2225 |
Hemimelia, radial |
1 |
Human disease
|
6.5 |
| 2226 |
Lipid malabsorption, ACSL5-related |
2 |
Animal disease only
|
|
| 2227 |
Otocephaly, OTX2-related |
1 |
Target evidence
|
49.6 |
| 2229 |
Hypotrichosis, HR-related |
10 |
Target evidence
|
78.7 |
| 2230 |
Hypotrichosis, HEPHL1-related |
1 |
Target evidence
|
45.2 |
| 2231 |
Melanoma, generic |
2 |
Animal disease only
|
|
| 2232 |
Myopathy, congenital, SPTBN4-related |
1 |
Target evidence
|
56.2 |
| 2233 |
Split spinal cord malformation type I |
1 |
Animal disease only
|
|
| 2234 |
Split spinal cord malformation type II |
1 |
Animal disease only
|
|
| 2235 |
Notomelia |
3 |
Animal disease only
|
|
| 2238 |
Ichthyosis, ABCA12-related |
3 |
Target evidence
|
64.9 |
| 2239 |
Facial dysmorphia |
1 |
Human disease
|
9.0 |
| 2240 |
Ataxia, cerebellar, KCNIP4-related |
1 |
Animal disease only
|
|
