|
OMIM |
Link |
Information gain |
01 |
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
0.00517881
|
|
|
GO
|
[NCBI]
|
0.00346552
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
0.0021789
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
0.00157571
|
|
|
cutis laxa, autosomal dominant
|
[NCBI]
|
0.00145646
|
|
|
ELN
|
[NCBI]
|
0.000626784
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
0.000487121
|
|
|
WSS
|
[NCBI]
|
0.000348685
|
|
|
FBLN5
|
[NCBI]
|
0.000313636
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000305953
|
|
|
costello syndrome
|
[NCBI]
|
0.000241812
|
|
|
ATP7A
|
[NCBI]
|
0.000158693
|
|
|
ATP6V0A2
|
[NCBI]
|
0.00015587
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
0.000154649
|
|
|
PXE
|
[NCBI]
|
0.000147849
|
|
|
hemolytic anemia, congenital, with emphysema and cutis laxa
|
[NCBI]
|
0.000117708
|
|
|
scarf syndrome
|
[NCBI]
|
0.000117708
|
|
|
blepharochalasis, superior
|
[NCBI]
|
0.000117708
|
|
|
patterson pseudoleprechaunism syndrome
|
[NCBI]
|
9.5247e-05
|
|
|
ARMD3
|
[NCBI]
|
9.5247e-05
|
|
|
pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
|
[NCBI]
|
8.67761e-05
|
|
|
marfanoid hypermobility syndrome
|
[NCBI]
|
7.39416e-05
|
|
|
ELA1
|
[NCBI]
|
7.34201e-05
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
6.51121e-05
|
|
|
EFEMP2
|
[NCBI]
|
6.48439e-05
|
|
|
ehlers-danlos syndrome, type vii, autosomal dominant
|
[NCBI]
|
6.20352e-05
|
|
|
LAMB1
|
[NCBI]
|
5.86705e-05
|
|
|
GGCX
|
[NCBI]
|
5.39032e-05
|
|
|
EPS
|
[NCBI]
|
5.20015e-05
|
|
|
ehlers-danlos syndrome, type i
|
[NCBI]
|
4.31636e-05
|
|
|
sotos syndrome
|
[NCBI]
|
3.70115e-05
|
|
|
COL1A2
|
[NCBI]
|
3.4004e-05
|
|
|
SVAS
|
[NCBI]
|
3.08905e-05
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
3.05249e-05
|
|