|
OMIM |
Link |
Information gain |
01 |
|
cerebral palsy, ataxic, autosomal recessive
|
[NCBI]
|
0.00423007
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
0.000948868
|
|
|
cerebellar hypoplasia
|
[NCBI]
|
0.000817902
|
|
|
SCAX1
|
[NCBI]
|
0.000667246
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.00059223
|
|
|
SPS
|
[NCBI]
|
0.000353076
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
0.000286132
|
|
|
ataxic diplegia with defective cellular immunity
|
[NCBI]
|
0.000247544
|
|
|
glutaric acidemia i
|
[NCBI]
|
0.000237671
|
|
|
HPRT1
|
[NCBI]
|
0.000194011
|
|
|
WARBM
|
[NCBI]
|
0.000174663
|
|
|
LNS
|
[NCBI]
|
0.000173787
|
|
|
VLDLRCH
|
[NCBI]
|
0.000170315
|
|
|
IS1
|
[NCBI]
|
0.000149543
|
|
|
AHDS
|
[NCBI]
|
0.00014588
|
|
|
SPG2
|
[NCBI]
|
0.000140629
|
|
|
ATRX
|
[NCBI]
|
0.000129774
|
|
|
hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses
|
[NCBI]
|
0.000123583
|
|
|
diaminopentanuria
|
[NCBI]
|
0.000123583
|
|
|
dysmyelination with jaundice
|
[NCBI]
|
0.000123583
|
|
|
SPG3A
|
[NCBI]
|
0.000119112
|
|
|
SLS
|
[NCBI]
|
9.61301e-05
|
|
|
retinopathy, pigmentary, and mental retardation
|
[NCBI]
|
9.26442e-05
|
|
|
CVG/MR
|
[NCBI]
|
8.30556e-05
|
|
|
RENS1
|
[NCBI]
|
6.65275e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
6.65275e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
6.20564e-05
|
|
|
argininemia
|
[NCBI]
|
5.70745e-05
|
|
|
GAD1
|
[NCBI]
|
5.63985e-05
|
|
|
SPG3A
|
[NCBI]
|
5.31928e-05
|
|
|
citrullinemia, classic
|
[NCBI]
|
5.27378e-05
|
|
|
AS
|
[NCBI]
|
5.21945e-05
|
|
|
PQBP1
|
[NCBI]
|
5.19102e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
4.65514e-05
|
|
|
PDHA1
|
[NCBI]
|
4.4889e-05
|
|
|
NP
|
[NCBI]
|
4.45978e-05
|
|
|
ATRX
|
[NCBI]
|
4.32581e-05
|
|
|
FCMD
|
[NCBI]
|
4.24144e-05
|
|
|
PLP1
|
[NCBI]
|
4.02585e-05
|
|
|
MBP
|
[NCBI]
|
2.91905e-05
|
|
|
IP
|
[NCBI]
|
2.87425e-05
|
|
|
AT
|
[NCBI]
|
1.59728e-05
|
|
|
PTH
|
[NCBI]
|
1.40105e-05
|
|
|
ALD
|
[NCBI]
|
1.25833e-05
|
|
|
G6PD
|
[NCBI]
|
1.22618e-05
|
|
|
EPO
|
[NCBI]
|
5.63765e-06
|
|
|
MPO
|
[NCBI]
|
5.63444e-06
|
|