|
OMIM |
Link |
Information gain |
01 |
|
histiocytosis, familial lipochrome
|
[NCBI]
|
0.00109818
|
|
|
reticuloendotheliosis, x-linked
|
[NCBI]
|
0.00109818
|
|
|
NAD
|
[NCBI]
|
0.000798231
|
|
|
zinc, elevated plasma
|
[NCBI]
|
0.000705355
|
|
|
eosinophilia, familial
|
[NCBI]
|
0.000705355
|
|
|
red cell phospholipid defect with hemolysis
|
[NCBI]
|
0.000647644
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
0.000634576
|
|
|
ZLS
|
[NCBI]
|
0.000558521
|
|
|
ALPS
|
[NCBI]
|
0.000540527
|
|
|
CDAN2
|
[NCBI]
|
0.000468835
|
|
|
GPS
|
[NCBI]
|
0.000412841
|
|
|
CVID
|
[NCBI]
|
0.000349505
|
|
|
HBB
|
[NCBI]
|
0.000315916
|
|
|
NPC1
|
[NCBI]
|
0.000306156
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
0.000233693
|
|
|
splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t-helper cells
|
[NCBI]
|
0.000213998
|
|
|
RA
|
[NCBI]
|
0.000162559
|
|
|
sickle cell anemia
|
[NCBI]
|
0.000131849
|
|
|
TNFRSF6
|
[NCBI]
|
0.000121618
|
|
|
hyperlipoproteinemia, type i
|
[NCBI]
|
0.000112562
|
|
|
ichthyosis, hepatosplenomegaly, and cerebellar degeneration
|
[NCBI]
|
0.000106932
|
|
|
myeloproliferative disease, autosomal recessive
|
[NCBI]
|
0.000106932
|
|
|
glycoprotein storage disease
|
[NCBI]
|
0.000106932
|
|
|
neutrophilia, hereditary
|
[NCBI]
|
0.000106932
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
0.000101526
|
|
|
glycogen storage disease iv
|
[NCBI]
|
9.5497e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
9.23699e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
8.88387e-05
|
|
|
hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation
|
[NCBI]
|
8.44817e-05
|
|
|
PEPD
|
[NCBI]
|
8.31405e-05
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
7.85846e-05
|
|
|
ALPS2A
|
[NCBI]
|
7.60216e-05
|
|
|
thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
|
[NCBI]
|
7.60216e-05
|
|
|
CHS
|
[NCBI]
|
7.275e-05
|
|
|
pseudohyperkalemia cardiff
|
[NCBI]
|
7.05353e-05
|
|
|
wolman disease
|
[NCBI]
|
6.80431e-05
|
|
|
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
|
[NCBI]
|
6.64614e-05
|
|
|
beta thalassemia, dominant inclusion body type
|
[NCBI]
|
6.64614e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
6.44859e-05
|
|
|
mevalonic aciduria
|
[NCBI]
|
6.32194e-05
|
|
|
anemia, microcytic
|
[NCBI]
|
6.32194e-05
|
|
|
SLC4A1
|
[NCBI]
|
6.21762e-05
|
|
|
FHL2
|
[NCBI]
|
6.0527e-05
|
|
|
CINCA
|
[NCBI]
|
6.0527e-05
|
|
|
RORC
|
[NCBI]
|
6.05077e-05
|
|
|
LYN
|
[NCBI]
|
5.53119e-05
|
|
|
GBA
|
[NCBI]
|
5.47267e-05
|
|
|
HES
|
[NCBI]
|
5.44329e-05
|
|
|
EPOR
|
[NCBI]
|
5.40538e-05
|
|
|
IL10RB
|
[NCBI]
|
5.19397e-05
|
|
|
MFGE8
|
[NCBI]
|
4.94335e-05
|
|
|
PRDX2
|
[NCBI]
|
4.94335e-05
|
|
|
ichthyosis vulgaris
|
[NCBI]
|
4.76841e-05
|
|
|
erythrocytosis, familial, 2
|
[NCBI]
|
4.76841e-05
|
|
|
BLNK
|
[NCBI]
|
4.74375e-05
|
|
|
TNFSF6
|
[NCBI]
|
4.73095e-05
|
|
|
alpha-thalassemia/mental retardation syndrome, deletion-type
|
[NCBI]
|
4.66247e-05
|
|
|
erythrocytosis, familial, 1
|
[NCBI]
|
4.66247e-05
|
|
|
HBA1
|
[NCBI]
|
4.60922e-05
|
|
|
FIP1L1
|
[NCBI]
|
4.57786e-05
|
|
|
NFE2L2
|
[NCBI]
|
4.57786e-05
|
|
|
BUB1B
|
[NCBI]
|
4.57786e-05
|
|
|
galactokinase deficiency
|
[NCBI]
|
4.56329e-05
|
|
|
pycnodysostosis
|
[NCBI]
|
4.47009e-05
|
|
|
AOAH
|
[NCBI]
|
4.43593e-05
|
|
|
omenn syndrome
|
[NCBI]
|
4.38219e-05
|
|
|
SCN1
|
[NCBI]
|
4.29903e-05
|
|
|
ATP8B1
|
[NCBI]
|
4.01284e-05
|
|
|
HIDS
|
[NCBI]
|
4.00534e-05
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
3.81717e-05
|
|
|
CASP8
|
[NCBI]
|
3.71822e-05
|
|
|
CTSK
|
[NCBI]
|
3.59867e-05
|
|
|
MVK
|
[NCBI]
|
3.44303e-05
|
|
|
TGD
|
[NCBI]
|
3.40712e-05
|
|
|
PFIC1
|
[NCBI]
|
3.40712e-05
|
|
|
malaria, susceptibility to
|
[NCBI]
|
3.363e-05
|
|
|
periodic fever, familial, autosomal dominant
|
[NCBI]
|
3.32017e-05
|
|
|
DKC
|
[NCBI]
|
3.19874e-05
|
|
|
CML
|
[NCBI]
|
3.19874e-05
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
3.16042e-05
|
|
|
CYBB
|
[NCBI]
|
3.11995e-05
|
|
|
NPC1
|
[NCBI]
|
3.08623e-05
|
|
|
TLR3
|
[NCBI]
|
3.08623e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
3.05365e-05
|
|
|
PKLR
|
[NCBI]
|
3.02214e-05
|
|
|
fucosidosis
|
[NCBI]
|
3.02214e-05
|
|
|
CF
|
[NCBI]
|
2.75695e-05
|
|
|
CTNS
|
[NCBI]
|
2.73781e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
2.73056e-05
|
|
|
TLR9
|
[NCBI]
|
2.56361e-05
|
|
|
ARPKD
|
[NCBI]
|
2.55393e-05
|
|
|
hurler syndrome
|
[NCBI]
|
2.43624e-05
|
|
|
glycogen storage disease i
|
[NCBI]
|
2.42192e-05
|
|
|
HS
|
[NCBI]
|
2.32823e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
2.29899e-05
|
|
|
LPI
|
[NCBI]
|
2.20886e-05
|
|
|
HBA2
|
[NCBI]
|
2.10523e-05
|
|
|
CGD
|
[NCBI]
|
2.0997e-05
|
|
|
JMML
|
[NCBI]
|
1.95172e-05
|
|
|
HHT
|
[NCBI]
|
1.95172e-05
|
|
|
NS1
|
[NCBI]
|
1.86201e-05
|
|
|
wilson disease
|
[NCBI]
|
1.68782e-05
|
|
|
PLG
|
[NCBI]
|
1.57137e-05
|
|
|
SLE
|
[NCBI]
|
1.52275e-05
|
|
|
VHL
|
[NCBI]
|
1.48293e-05
|
|
|
G6PD
|
[NCBI]
|
1.08279e-05
|
|
|
WBS
|
[NCBI]
|
9.3266e-06
|
|
|
HP
|
[NCBI]
|
8.96534e-06
|
|
|
FMF
|
[NCBI]
|
8.93784e-06
|
|
|
CTGF
|
[NCBI]
|
7.99686e-06
|
|
|
TLR4
|
[NCBI]
|
7.95204e-06
|
|
|
TF
|
[NCBI]
|
7.47906e-06
|
|
|
ACP5
|
[NCBI]
|
7.29555e-06
|
|
|
EGF
|
[NCBI]
|
5.59632e-06
|
|
|
CEACAM5
|
[NCBI]
|
4.86943e-06
|
|
|
AT
|
[NCBI]
|
4.00907e-06
|
|
|
APOE
|
[NCBI]
|
2.85798e-06
|
|
|
VEGF
|
[NCBI]
|
2.80388e-06
|
|
|
polycystic kidneys
|
[NCBI]
|
2.74466e-06
|
|
|
TYMS
|
[NCBI]
|
2.26732e-06
|
|
|
EPO
|
[NCBI]
|
1.67823e-06
|
|
|
TNF
|
[NCBI]
|
1.19949e-06
|
|
|
TG
|
[NCBI]
|
1.12028e-06
|
|
|
LPL
|
[NCBI]
|
6.3803e-07
|
|
|
PD
|
[NCBI]
|
1.95294e-07
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
5.34083e-08
|
|