|
OMIM |
Link |
Information gain |
01 |
|
reticuloendotheliosis, x-linked
|
[NCBI]
|
0.00106493
|
|
|
myeloproliferative syndrome, transient
|
[NCBI]
|
0.000973978
|
|
|
NAD
|
[NCBI]
|
0.000765046
|
|
|
FPLD1
|
[NCBI]
|
0.000711792
|
|
|
leri pleonosteosis
|
[NCBI]
|
0.000711792
|
|
|
zinc, elevated plasma
|
[NCBI]
|
0.000672238
|
|
|
eosinophilia, familial
|
[NCBI]
|
0.000672238
|
|
|
cataract and cardiomyopathy
|
[NCBI]
|
0.00059223
|
|
|
fatty metamorphosis of viscera
|
[NCBI]
|
0.00059223
|
|
|
mulibrey nanism
|
[NCBI]
|
0.000584684
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000555363
|
|
|
ZS
|
[NCBI]
|
0.000283312
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
0.000250823
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
0.000228671
|
|
|
RA
|
[NCBI]
|
0.000204008
|
|
|
LPI
|
[NCBI]
|
0.000190697
|
|
|
HHT
|
[NCBI]
|
0.000179124
|
|
|
CGL2
|
[NCBI]
|
0.000177106
|
|
|
phosphorylase kinase deficiency of liver and muscle, autosomal recessive
|
[NCBI]
|
0.000160001
|
|
|
hyperpipecolatemia
|
[NCBI]
|
0.000149018
|
|
|
wolman disease
|
[NCBI]
|
0.000124904
|
|
|
FBS
|
[NCBI]
|
0.000116754
|
|
|
glycogen storage disease i
|
[NCBI]
|
0.000115944
|
|
|
ALPS
|
[NCBI]
|
0.000113466
|
|
|
NR1I2
|
[NCBI]
|
0.000112089
|
|
|
ichthyosis, hepatosplenomegaly, and cerebellar degeneration
|
[NCBI]
|
0.000110836
|
|
|
glycine n-methyltransferase deficiency
|
[NCBI]
|
0.000110836
|
|
|
myeloproliferative disease, autosomal recessive
|
[NCBI]
|
0.000110836
|
|
|
CDG1L
|
[NCBI]
|
0.000110836
|
|
|
SLE
|
[NCBI]
|
0.000106389
|
|
|
glycogen storage disease iv
|
[NCBI]
|
0.000103208
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
0.000101079
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
0.000100066
|
|
|
PFIC1
|
[NCBI]
|
9.81344e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
9.63151e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
9.57007e-05
|
|
|
dwarfism with stiff joints and ocular abnormalities
|
[NCBI]
|
8.83803e-05
|
|
|
atpaf2 deficiency
|
[NCBI]
|
8.83803e-05
|
|
|
triglyceride storage disease, type ii
|
[NCBI]
|
8.83803e-05
|
|
|
ARPKD
|
[NCBI]
|
8.01622e-05
|
|
|
GEMSS
|
[NCBI]
|
7.99154e-05
|
|
|
NPC1
|
[NCBI]
|
7.36023e-05
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
6.7099e-05
|
|
|
anemia, autoimmune hemolytic
|
[NCBI]
|
6.7099e-05
|
|
|
peroxisomal acyl-coa oxidase deficiency
|
[NCBI]
|
6.7099e-05
|
|
|
mevalonic aciduria
|
[NCBI]
|
6.7099e-05
|
|
|
CF
|
[NCBI]
|
6.68874e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
6.64295e-05
|
|
|
FHL2
|
[NCBI]
|
6.44019e-05
|
|
|
CINCA
|
[NCBI]
|
6.44019e-05
|
|
|
ichthyosiform erythroderma, corneal involvement, and deafness
|
[NCBI]
|
6.44019e-05
|
|
|
GBA
|
[NCBI]
|
6.14735e-05
|
|
|
AOII
|
[NCBI]
|
6.00811e-05
|
|
|
ALG9
|
[NCBI]
|
5.8726e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
5.82936e-05
|
|
|
CDG1B
|
[NCBI]
|
5.82936e-05
|
|
|
PHKB
|
[NCBI]
|
5.53521e-05
|
|
|
fructose-1,6-bisphosphatase deficiency
|
[NCBI]
|
5.52287e-05
|
|
|
sialuria
|
[NCBI]
|
5.38935e-05
|
|
|
ichthyosis vulgaris
|
[NCBI]
|
5.15211e-05
|
|
|
alpha-thalassemia/mental retardation syndrome, deletion-type
|
[NCBI]
|
5.04569e-05
|
|
|
autoimmune disease
|
[NCBI]
|
4.94604e-05
|
|
|
galactokinase deficiency
|
[NCBI]
|
4.94604e-05
|
|
|
NR1H3
|
[NCBI]
|
4.91861e-05
|
|
|
hyperlipoproteinemia, type i
|
[NCBI]
|
4.85236e-05
|
|
|
pycnodysostosis
|
[NCBI]
|
4.85236e-05
|
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
[NCBI]
|
4.85236e-05
|
|
|
AOAH
|
[NCBI]
|
4.77651e-05
|
|
|
HBB
|
[NCBI]
|
4.77027e-05
|
|
|
BSCL2
|
[NCBI]
|
4.54204e-05
|
|
|
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
4.45353e-05
|
|
|
SLSN1
|
[NCBI]
|
4.45353e-05
|
|
|
CHS
|
[NCBI]
|
4.35284e-05
|
|
|
ATP8B1
|
[NCBI]
|
4.35277e-05
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
4.31893e-05
|
|
|
ASL
|
[NCBI]
|
4.27023e-05
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
4.19517e-05
|
|
|
MTP
|
[NCBI]
|
4.19409e-05
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
4.13685e-05
|
|
|
NPHP1
|
[NCBI]
|
4.0265e-05
|
|
|
LCA1
|
[NCBI]
|
3.97418e-05
|
|
|
GNMT
|
[NCBI]
|
3.93761e-05
|
|
|
MADD
|
[NCBI]
|
3.92361e-05
|
|
|
FPLD2
|
[NCBI]
|
3.82728e-05
|
|
|
PEPD
|
[NCBI]
|
3.78148e-05
|
|
|
AK1
|
[NCBI]
|
3.73452e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
3.39046e-05
|
|
|
fucosidosis
|
[NCBI]
|
3.35878e-05
|
|
|
TNFRSF6
|
[NCBI]
|
3.26953e-05
|
|
|
SLC2A2
|
[NCBI]
|
3.21431e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
3.18783e-05
|
|
|
galactosemia
|
[NCBI]
|
3.13187e-05
|
|
|
CTNS
|
[NCBI]
|
3.10301e-05
|
|
|
BWS
|
[NCBI]
|
3.08625e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
3.06539e-05
|
|
|
ABL
|
[NCBI]
|
2.9158e-05
|
|
|
hurler syndrome
|
[NCBI]
|
2.79574e-05
|
|
|
PPARA
|
[NCBI]
|
2.59132e-05
|
|
|
SDS
|
[NCBI]
|
2.31497e-05
|
|
|
JMML
|
[NCBI]
|
2.29889e-05
|
|
|
HBA1
|
[NCBI]
|
1.96374e-05
|
|
|
PLG
|
[NCBI]
|
1.88941e-05
|
|
|
PI
|
[NCBI]
|
1.33283e-05
|
|
|
LPL
|
[NCBI]
|
1.32626e-05
|
|
|
AHR
|
[NCBI]
|
1.21498e-05
|
|
|
CTGF
|
[NCBI]
|
1.0833e-05
|
|
|
HGF
|
[NCBI]
|
9.71899e-06
|
|
|
AT
|
[NCBI]
|
6.34952e-06
|
|
|
CVID
|
[NCBI]
|
5.94817e-06
|
|
|
polycystic kidneys
|
[NCBI]
|
4.82803e-06
|
|
|
ALD
|
[NCBI]
|
3.87382e-06
|
|
|
EGF
|
[NCBI]
|
1.88376e-06
|
|
|
FA
|
[NCBI]
|
1.57962e-06
|
|
|
CEACAM5
|
[NCBI]
|
1.51923e-06
|
|
|
TNF
|
[NCBI]
|
1.26034e-06
|
|
|
VEGF
|
[NCBI]
|
1.20349e-06
|
|
|
PD
|
[NCBI]
|
6.32077e-08
|
|
|
PCNA
|
[NCBI]
|
2.50643e-08
|
|