| 1984 |
Retinal atrophy, progressive, TTC8-related |
1 |
Human gene
|
34.0 |
| 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 |
| 1989 |
Onychomadesis, symmetrical |
1 |
Human disease
|
9.0 |
| 1990 |
Cancer, TP53-related |
5 |
Drug
|
84.9 |
| 1991 |
Stillbirth |
1 |
Human gene
|
26.5 |
| 1993 |
Ichthyosis, generic |
4 |
Human disease
|
15.0 |
| 2007 |
Agenesis, renal |
4 |
Human disease
|
15.0 |
| 2011 |
B-cell deficiency |
1 |
Human disease
|
7.5 |
| 2012 |
Glioma, predisposition to |
3 |
Human disease
|
9.0 |
| 2013 |
Skeletal atavism |
1 |
Human disease
|
9.0 |
| 2015 |
Dental hypomineralization |
1 |
Target evidence
|
58.3 |
| 2016 |
Van den Ende-Gupta syndrome |
1 |
Target evidence
|
61.1 |
| 2017 |
Glaucoma 3, primary congenital |
1 |
Human disease
|
14.0 |
| 2018 |
Stiff skin syndrome |
1 |
Human disease
|
9.0 |
| 2020 |
Ligneous membranitis |
1 |
Drug
|
69.5 |
| 2022 |
Arthrogryposis multiplex congenita, CHRNB1-related |
1 |
Human gene
|
34.0 |
| 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 |
| 2030 |
Cataract and non-ketotic hyperglycinaemia |
1 |
Human disease
|
9.0 |
| 2032 |
Neuropathy, sensory, RETREG1-related |
1 |
Human gene
|
34.0 |
| 2034 |
Cerebellar cortical degeneration, SNX14-related |
1 |
Target evidence
|
57.0 |
| 2035 |
Abortion (embryonic lethality), OBFC1-related |
1 |
Human gene
|
29.0 |
| 2041 |
Abortion (embryonic lethality), RPIA-related |
1 |
Target evidence
|
55.4 |
| 2044 |
Ataxia telangiectasia, ATM-related |
2 |
Human disease
|
35.0 |
| 2045 |
Bardet-Biedl syndrome 4 |
1 |
Human gene
|
34.0 |
| 2047 |
XX sex reversal, SRY-related |
3 |
Human disease
|
20.0 |
| 2048 |
Hypocalcaemia, predisposition to |
1 |
Human disease
|
29.0 |
| 2050 |
Hypomagnesaemia, subclinical |
1 |
Human disease
|
9.0 |
| 2052 |
Hyperphosphatemia |
1 |
Human disease
|
9.0 |
| 2056 |
Periodontitis |
1 |
Human disease
|
9.0 |
| 2060 |
Adrenal hypoplasia, congenital |
1 |
Human disease
|
10.0 |
| 2062 |
Guillain-Barr-like polyradiculoneuropathy |
2 |
Human disease
|
32.0 |
| 2063 |
Hyperlipidaemia/atherosclerosis, APOE-related |
4 |
Human disease
|
30.0 |
| 2064 |
Autoimmune lymphoproliferative syndrome, FASLG-related |
1 |
Drug
|
56.0 |
| 2065 |
Niemann-Pick disease, type C2 |
1 |
Human disease
|
14.0 |
| 2067 |
Syndactyly, type Ia |
1 |
Human disease
|
9.0 |
| 2068 |
Dwarfism, B4GALT7-related |
1 |
Human gene
|
29.0 |
| 2070 |
Stevens-Johnson syndrome, predisposition to |
1 |
Human disease
|
34.0 |
| 2071 |
Macular corneal dystrophy |
1 |
Target evidence
|
56.4 |
| 2072 |
Myasthenic syndrome, congenital, CHAT-related |
1 |
Human gene
|
34.0 |
| 2078 |
Tyrosinaemia, type I |
2 |
Human disease
|
15.0 |
| 2079 |
Hyperhomocysteinaemia |
1 |
Human disease
|
29.0 |
| 2080 |
Epidermolysis bullosa, simplex, PLEC-related |
1 |
Target evidence
|
56.7 |
| 2081 |
Epidermolysis bullosa simplex, KRT5-related |
3 |
Target evidence
|
61.9 |
| 2082 |
Epidermolysis bullosa, simplex |
3 |
Human disease
|
15.0 |
| 2084 |
Dyskinesia, paroxysmal, PIGN-related |
1 |
Target evidence
|
57.5 |
| 2088 |
Palmoplantar keratoderma, nonepidermolytic, focal 1 |
1 |
Human disease
|
14.0 |
| 2089 |
Ataxia, cerebellar, KCNJ10-related |
1 |
Target evidence
|
63.3 |
