| 1917 |
Polyneuropathy, ARHGEF10-related |
1 |
Target evidence
|
47.1 |
| 1918 |
Retinal atrophy, progressive, FAM161A-related |
1 |
Human disease
|
14.0 |
| 1919 |
Cleft palate 1, DLX6-related |
1 |
Target evidence
|
30.5 |
| 1920 |
Lethality, GHRH-related |
1 |
Animal disease only
|
|
| 1921 |
Rhabdomyosarcoma, embryonal/congenital |
1 |
Human disease
|
29.0 |
| 1923 |
Spinal intradural arachnoid diverticulum |
1 |
Human disease
|
9.0 |
| 1924 |
Lordosis |
3 |
Animal disease only
|
|
| 1926 |
Achondrogenesis, type II |
3 |
Drug
|
68.7 |
| 1928 |
Myasthenic syndrome, congenital, COLQ-related |
1 |
Human gene
|
34.0 |
| 1929 |
Retinal atrophy - Cone-rod dystrophy 6 |
1 |
Human disease
|
5.0 |
| 1930 |
Pneumonia, aspiration |
1 |
Human disease
|
26.5 |
| 1931 |
Depigmentation associated with microphthalmia |
1 |
Target evidence
|
57.1 |
| 1932 |
Retinal atrophy, progressive, MERTK-related |
1 |
Human gene
|
29.0 |
| 1934 |
Ptosis, intellectual disability, retarded growth and mortality (PIRM) syndrome (Haplotype AH1) |
1 |
Target evidence
|
57.0 |
| 1935 |
Zinc deficiency-like syndrome |
1 |
Animal disease only
|
|
| 1936 |
Cataract, recessive, NID1-related |
1 |
Animal disease only
|
|
| 1937 |
Cushing syndrome, ACTH-independent, adrenal-dependent hypercortisolism |
1 |
Target evidence
|
56.7 |
| 1938 |
Liver fibrosis, congenital, PKHD1-related |
1 |
Target evidence
|
55.7 |
| 1939 |
Haplotype with homozygous deficiency BH2, TUBD1-related |
1 |
Animal disease only
|
|
| 1941 |
Haplotype with homozygous deficiency HH5, TFB1M-related |
1 |
Animal disease only
|
|
| 1942 |
Haplotype with homozygous deficiency JH2 |
1 |
Animal disease only
|
|
| 1944 |
Spondylocostal dysostosis, autosomal recessive |
1 |
Target evidence
|
50.7 |
| 1947 |
Cerebellar hypoplasia, VLDLR-associated |
1 |
Human gene
|
29.0 |
| 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 |
| 1954 |
Neurodegenerative vacuolar storage disease |
1 |
Animal disease only
|
|
| 1956 |
Avian sarcoma and leukosis virus, subgroup J, susceptibility/resistance to |
1 |
Animal disease only
|
|
| 1957 |
Haplotype with homozygous deficiency FH1 |
1 |
Animal disease only
|
|
| 1958 |
Growth retardation due to haplotype FH2 |
1 |
Animal disease only
|
|
| 1959 |
Haplotype with homozygous deficiency FH3 |
1 |
Animal disease only
|
|
| 1960 |
Haplotype with homozygous deficiency FH4 |
1 |
Animal disease only
|
|
| 1962 |
Neuronal ceroid lipofuscinosis, 7 |
4 |
Target evidence
|
69.5 |
| 1963 |
Schwannomatosis |
2 |
Human disease
|
12.0 |
| 1964 |
Eye infection, predisposition to |
1 |
Animal disease only
|
|
| 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 |
| 1971 |
Ventricular septal defect and quadricuspid aortic valve |
1 |
Animal disease only
|
|
| 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 |
| 1980 |
Ichthyosis, NIPAL4-related |
1 |
Human gene
|
34.0 |
| 1981 |
Foetal death |
4 |
Animal disease only
|
|
| 1982 |
kyphoscoliotic Ehlers-Danlos syndrome (kEDS), PLOD1-related |
1 |
Human disease
|
19.0 |
| 1983 |
Factors VIII, IX, and X, combined deficiency of |
1 |
Animal disease only
|
|
