| 2506 |
Haplotype with homozygous deficiency SH6 |
1 |
Animal disease only
|
|
| 2507 |
Haplotype with homozygous deficiency SH7 |
1 |
Animal disease only
|
|
| 2508 |
Haplotype with homozygous deficiency SH8, CYP2B6-related |
1 |
Animal disease only
|
|
| 2509 |
Haplotype with homozygous deficiency SH9, NUBPL-related |
1 |
Target evidence
|
54.0 |
| 2510 |
Haplotype with homozygous deficiency SH10 |
1 |
Animal disease only
|
|
| 2511 |
Haplotype with homozygous deficiency SH11 |
1 |
Animal disease only
|
|
| 2513 |
Haplotypes with homozygous deficiency BH1-BH38 |
1 |
Animal disease only
|
|
| 2514 |
Haplotypes with homozygous deficiency OH2-OH6 |
1 |
Animal disease only
|
|
| 2515 |
Haplotype with homozygous deficiency OH2, TUBGCP5-related |
1 |
Animal disease only
|
|
| 2516 |
Haplotype with homozygous deficiency OH4, LIG3-related |
1 |
Animal disease only
|
|
| 2517 |
Haplotype with homozygous deficiency BH6, MARS2-related |
1 |
Animal disease only
|
|
| 2518 |
Haplotype with homozygous deficiency BH14, MRPL55-related |
1 |
Animal disease only
|
|
| 2519 |
Haplotype with homozygous deficiency BH24, CPT1C-related |
1 |
Animal disease only
|
|
| 2520 |
Agenesis, pulmonary |
1 |
Human disease
|
9.0 |
| 2521 |
Mitral valve dysplasia |
4 |
Animal disease only
|
|
| 2522 |
Ataxia, HACE1-related |
1 |
Target evidence
|
56.4 |
| 2523 |
Anal gland disease |
2 |
Animal disease only
|
|
| 2525 |
Polycystic kidney disease-2 |
2 |
Human disease
|
14.0 |
| 2526 |
Enteropathy-associated T cell lymphoma, inducer of |
1 |
Animal disease only
|
|
| 2529 |
Dysplastic gangliocytoma of the cerebellum |
1 |
Human disease
|
9.0 |
| 2530 |
Dermatophytosis, susceptibility/resistance to |
1 |
Animal disease only
|
|
| 2531 |
XY sex reversal, sdY-related |
1 |
Animal disease only
|
|
| 2532 |
Hernia, abdominal, TWIST1-related |
1 |
Animal disease only
|
|
| 2533 |
Osteogenesis imperfecta, CREB3L1-related |
1 |
Human gene
|
29.0 |
| 2534 |
Centronuclear myopathy 1, DNM2-related |
1 |
Target evidence
|
58.6 |
| 2535 |
Cataract, ADAMTSL4-related |
1 |
Human gene
|
29.0 |
| 2536 |
Cataract, FYCO1-related |
1 |
Human gene
|
29.0 |
| 2537 |
Encephalopathy, STXBP1-related |
1 |
Human disease
|
5.0 |
| 2538 |
Alzheimer disease, APP-related |
6 |
Human disease
|
10.0 |
| 2539 |
Respiratory distress syndrome, ANLN-related |
1 |
Animal disease only
|
|
| 2540 |
Chondrodysplasia, EVC2-related |
1 |
Target evidence
|
57.4 |
| 2541 |
Chondrodysplasia, UGDH-related |
1 |
Animal disease only
|
|
| 2543 |
Cleft primary palate, ESRP2-related |
1 |
Animal disease only
|
|
| 2544 |
GAPO syndrome |
1 |
Human disease
|
5.0 |
| 2545 |
Repetitive behaviour |
7 |
Animal disease only
|
|
| 2547 |
Haplotype with homozygous deficiency HH25, RIOX1-related |
1 |
Animal disease only
|
|
| 2548 |
Haplotype with homozygous deficiency HH35, PCDH15-related |
1 |
Animal disease only
|
|
| 2550 |
Deafness, EPS8L2-related |
1 |
Human gene
|
29.0 |
| 2551 |
Mitochondrial fission encephalopathy |
1 |
Human gene
|
26.0 |
| 2552 |
Pancreatic agenesis, PDX1-related |
3 |
Human disease
|
30.0 |
| 2554 |
Osteochondromatosis, EXT1-related |
1 |
Target evidence
|
58.2 |
| 2555 |
Osteochondromatosis, generic |
3 |
Animal disease only
|
|
| 2556 |
Double-outlet right ventricle |
2 |
Animal disease only
|
|
| 2557 |
Leber hereditary optic neuropathy |
1 |
Drug
|
77.5 |
| 2558 |
Chromosomal structural anomaly, translocation, reciprocal |
6 |
Human disease
|
15.0 |
| 2559 |
Persistent truncus arteriosus, GATA6-related |
1 |
Target evidence
|
50.3 |
| 2560 |
Growth and respiratory lethal syndrome |
1 |
Animal disease only
|
|
| 2561 |
Infertility, ABHD16B-related |
1 |
Animal disease only
|
|
| 2562 |
Biliary tract malformation, congenital |
1 |
Human disease
|
9.0 |
| 2564 |
Dyserythropoietic anemia and myopathy syndrome |
1 |
Animal disease only
|
|
