| 2724 |
Lymph node aplasia |
1 |
Animal disease only
|
|
| 2725 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
1 |
Human disease
|
14.0 |
| 2727 |
Polyneuropathy, hypomyelinating, MTMR2-related |
1 |
Target evidence
|
60.6 |
| 2728 |
PCYT2 deficiency |
1 |
Target evidence
|
56.0 |
| 2729 |
Thoracoabdominal syndrome |
1 |
Human disease
|
9.0 |
| 2730 |
Pulmonary valve dysplasia |
1 |
Human disease
|
9.0 |
| 2732 |
Germline mutation rate |
21 |
Animal disease only
|
|
| 2735 |
Cataract, GJA8-related |
1 |
Human disease
|
10.0 |
| 2739 |
Polyneuropathy, hypomyelinating, MPZ-related |
1 |
Target evidence
|
58.2 |
| 2740 |
Polyneuropathy, hypomyelinating, SH3TC2-related |
1 |
Target evidence
|
57.3 |
| 2742 |
Aortic valve hypoplasia |
1 |
Animal disease only
|
|
| 2744 |
XX difference of sexual development, AMH-related |
1 |
Animal disease only
|
|
| 2748 |
Parkinson disease, PRKN-related |
2 |
Human disease
|
5.0 |
| 2749 |
Flavobacterium columnare, susceptibility/resistance to |
1 |
Animal disease only
|
|
| 2751 |
External auditory canal atresia |
2 |
Animal disease only
|
|
| 2752 |
Cardiac defects, MYRF-related |
1 |
Human disease
|
5.0 |
| 2755 |
Hyperbilirubinaemia, SLCO1B3-related |
1 |
Target evidence
|
49.3 |
| 2757 |
Ataxia, cerebellar, RALGAPA1-related |
1 |
Target evidence
|
54.9 |
| 2759 |
Brachygnathia, WNT10B-related |
1 |
Human gene
|
29.0 |
| 2760 |
Infertility, PIWI-related |
1 |
Animal disease only
|
|
| 2763 |
Severe combined immunodeficiency disease, IL2RG and RAG1-related |
1 |
Human disease
|
17.5 |
| 2771 |
Lissencephaly, generic |
4 |
Animal disease only
|
|
| 2772 |
Frontotemporal dementia, MAPT-related |
2 |
Drug
|
66.3 |
| 2773 |
T cell deficiency |
1 |
Animal disease only
|
|
| 2775 |
Persistent Mullerian duct syndrome, AMHR2-related |
1 |
Human disease
|
9.0 |
| 2776 |
Sex chromosome difference of sexual development, generic |
16 |
Human disease
|
15.0 |
| 2777 |
XY difference of sexual development, HSD17B3-related |
1 |
Human disease
|
14.0 |
| 2778 |
XY sex reversal, DMY-related |
1 |
Animal disease only
|
|
| 2780 |
Ataxia, spastic, SACS-related |
1 |
Target evidence
|
63.8 |
| 2781 |
Colonic agenesis, congenital partial |
3 |
Animal disease only
|
|
| 2782 |
Cholelithiasis, predisposition to |
3 |
Human disease
|
15.0 |
| 2783 |
Dens evaginatus |
1 |
Human disease
|
14.0 |
| 2784 |
Spinal muscular atrophy, SMN1-related |
1 |
Animal disease only
|
|
| 2785 |
Myxomatosis, susceptibility/resistance to |
1 |
Animal disease only
|
|
| 2786 |
Lipid storage disease |
1 |
Human disease
|
6.5 |
| 2787 |
Uveodermatological syndrome |
1 |
Animal disease only
|
|
| 2788 |
Male subfertility, AK9-related |
1 |
Animal disease only
|
|
| 2789 |
Odontoclastic tooth resorption |
2 |
Animal disease only
|
|
| 2790 |
Adrenal hyperplasia, congenital, CYP17A1-related |
1 |
Human disease
|
10.0 |
| 2791 |
Vena cava defect, generic |
2 |
Animal disease only
|
|
| 2792 |
Dentinogenesis imperfecta |
1 |
Human disease
|
6.5 |
| 2793 |
Epidermolysis bullosa, junctionalis, COL17A1-related |
1 |
Target evidence
|
61.2 |
| 2796 |
Cardiomyopathy, dilated, LMNA-related |
2 |
Target evidence
|
61.8 |
| 2797 |
Polyendocrine syndrome |
1 |
Human disease
|
24.0 |
| 2798 |
Cervicothoracic vertebral malformation |
1 |
Animal disease only
|
|
| 2800 |
Amorphus globosus |
3 |
Animal disease only
|
|
| 2801 |
Shoulder and hip luxation |
1 |
Animal disease only
|
|
| 2802 |
Omphallorhagia |
1 |
Animal disease only
|
|
| 2806 |
Parkinson disease, generic |
3 |
Animal disease only
|
|
| 2807 |
Drug metabolism, poor, CYP2C19-related |
1 |
Animal disease only
|
|
