|
OMIM |
Link |
Information
gain |
01 |
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.00815515
|
|
|
|
VHL
|
[NCBI]
|
0.00325058
|
|
|
|
angiomatosis, diffuse corticomeningeal, of divry and van bogaert
|
[NCBI]
|
0.000975838
|
|
|
|
upington disease
|
[NCBI]
|
0.000975838
|
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.000583695
|
|
|
|
angioma, hereditary neurocutaneous
|
[NCBI]
|
0.000552346
|
|
|
|
blue rubber bleb nevus
|
[NCBI]
|
0.000425256
|
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.000425256
|
|
|
|
sturge-weber syndrome
|
[NCBI]
|
0.000358878
|
|
|
|
HHT
|
[NCBI]
|
0.000209863
|
|
|
|
VHL
|
[NCBI]
|
0.000149938
|
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
0.000137627
|
|
|
|
chondrodysplasia calcificans metaphysealis
|
[NCBI]
|
0.000118506
|
|
|
|
tendons, extensor, of fingers, anomalous insertion of
|
[NCBI]
|
0.000118506
|
|
|
|
retinal telangiectasia and hypogammaglobulinemia
|
[NCBI]
|
0.000118506
|
|
|
|
RCC1
|
[NCBI]
|
9.57537e-05
|
|
|
|
BLM
|
[NCBI]
|
8.81428e-05
|
|
|
|
pheochromocytoma--islet cell tumor syndrome
|
[NCBI]
|
8.75725e-05
|
|
|
|
cystic angiomatosis of bone, diffuse
|
[NCBI]
|
8.75725e-05
|
|
|
|
angiolipomatosis, familial
|
[NCBI]
|
8.20749e-05
|
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
6.28266e-05
|
|
|
|
CGL2
|
[NCBI]
|
4.82931e-05
|
|
|
|
pheochromocytoma
|
[NCBI]
|
4.62069e-05
|
|
|
|
CMTC
|
[NCBI]
|
4.0892e-05
|
|
|
|
neuroblastoma
|
[NCBI]
|
3.86475e-05
|
|
|
|
BRRS
|
[NCBI]
|
3.66937e-05
|
|
|
|
AT
|
[NCBI]
|
1.18564e-05
|
|
|
|
CD
|
[NCBI]
|
4.01291e-06
|
|
