|
OMIM |
Link |
Information gain |
01 |
|
APS2
|
[NCBI]
|
0.0013301
|
|
|
ataxia, deafness, and cardiomyopathy
|
[NCBI]
|
0.00106058
|
|
|
keratosis, focal palmoplantar and gingival
|
[NCBI]
|
0.00106058
|
|
|
clubbing of digits
|
[NCBI]
|
0.00106058
|
|
|
crome syndrome
|
[NCBI]
|
0.00106058
|
|
|
spinocerebellar ataxia with rigidity and peripheral neuropathy
|
[NCBI]
|
0.000796105
|
|
|
angioma, hereditary neurocutaneous
|
[NCBI]
|
0.000796105
|
|
|
lymphangiectasia, intestinal
|
[NCBI]
|
0.000796105
|
|
|
hemophagocytic lymphohistiocytosis, familial, 1
|
[NCBI]
|
0.000706424
|
|
|
renal-hepatic-pancreatic dysplasia with dandy-walker cyst
|
[NCBI]
|
0.000696738
|
|
|
cerebellar hypoplasia
|
[NCBI]
|
0.000696738
|
|
|
reticular dysgenesia
|
[NCBI]
|
0.000696738
|
|
|
DIP
|
[NCBI]
|
0.000696738
|
|
|
PSNP2
|
[NCBI]
|
0.000632468
|
|
|
syringomyelia, isolated
|
[NCBI]
|
0.000632468
|
|
|
sneddon syndrome
|
[NCBI]
|
0.000632468
|
|
|
letterer-siwe disease
|
[NCBI]
|
0.000584866
|
|
|
neutrophilic dermatosis, acute febrile
|
[NCBI]
|
0.000547082
|
|
|
keratosis palmoplantaris papulosa
|
[NCBI]
|
0.000547082
|
|
|
immune defect due to absence of thymus
|
[NCBI]
|
0.000547082
|
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
0.000515785
|
|
|
MSSE
|
[NCBI]
|
0.000515785
|
|
|
CGF
|
[NCBI]
|
0.000489098
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
0.000489098
|
|
|
ZLS
|
[NCBI]
|
0.000445296
|
|
|
RA
|
[NCBI]
|
0.000379978
|
|
|
melanosis, neurocutaneous
|
[NCBI]
|
0.000373322
|
|
|
chiari malformation type i
|
[NCBI]
|
0.000315037
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
0.000306207
|
|
|
pulmonary fibrosis, idiopathic
|
[NCBI]
|
0.000289771
|
|
|
SLE
|
[NCBI]
|
0.000234366
|
|
|
MCDS
|
[NCBI]
|
0.000233024
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.000212242
|
|
|
canavan disease
|
[NCBI]
|
0.000204623
|
|
|
pseudohermaphroditism, incomplete male, type i
|
[NCBI]
|
0.000193275
|
|
|
NEM3
|
[NCBI]
|
0.000190418
|
|
|
hemochromatosis, neonatal
|
[NCBI]
|
0.000165041
|
|
|
cirrhosis, familial
|
[NCBI]
|
0.000144613
|
|
|
CIPA
|
[NCBI]
|
0.00012598
|
|
|
tracheobronchomegaly
|
[NCBI]
|
0.000124303
|
|
|
blue diaper syndrome
|
[NCBI]
|
0.000124303
|
|
|
leiomyoma of vulva and esophagus
|
[NCBI]
|
0.000124303
|
|
|
venular insufficiency, systemic
|
[NCBI]
|
0.000124303
|
|
|
cutis verticis gyrata, thyroid aplasia, and mental retardation
|
[NCBI]
|
0.000124303
|
|
|
pulmonic stenosis and congenital nephrosis
|
[NCBI]
|
0.000124303
|
|
|
factors viii, ix and xi, combined deficiency of
|
[NCBI]
|
0.000124303
|
|
|
coracoclavicular joint, anomalous
|
[NCBI]
|
0.000124303
|
|
|
atrial tachyarrhythmia with short pr interval
|
[NCBI]
|
0.000124303
|
|
|
amyloidosis, cutaneous bullous
|
[NCBI]
|
0.000124303
|
|
|
NPHP1
|
[NCBI]
|
0.000121335
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
0.000105438
|
|
|
DKC
|
[NCBI]
|
0.000102654
|
|
|
laryngeal abductor paralysis
|
[NCBI]
|
9.6569e-05
|
|
|
lymphedema and ptosis
|
[NCBI]
|
9.6569e-05
|
|
|
immune deficiency, familial variable
|
[NCBI]
|
9.6569e-05
|
|
|
neuronal intestinal dysplasia, type b
|
[NCBI]
|
9.6569e-05
|
|
|
marfanoid hypermobility syndrome
|
[NCBI]
|
9.6569e-05
|
|
|
gynecomastia, familial
|
[NCBI]
|
9.6569e-05
|
|
|
torticollis
|
[NCBI]
|
9.6569e-05
|
|
|
focal epithelial hyperplasia, oral
|
[NCBI]
|
9.6569e-05
|
|
|
ABL
|
[NCBI]
|
8.74275e-05
|
|
|
thymoma, familial
|
[NCBI]
|
8.61263e-05
|
|
|
corpus callosum, partial agenesis of, x-linked
|
[NCBI]
|
7.9359e-05
|
|
|
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
|
[NCBI]
|
7.9359e-05
|
|
|
pseudohyperkalemia cardiff
|
[NCBI]
|
7.9359e-05
|
|
|
cardiomyopathy, dilated, autosomal recessive
|
[NCBI]
|
7.9359e-05
|
|
|
FSHMD1A
|
[NCBI]
|
7.83011e-05
|
|
|
pulmonary alveolar microlithiasis
|
[NCBI]
|
7.43372e-05
|
|
|
anemia, hypochromic microcytic
|
[NCBI]
|
7.43372e-05
|
|
|
corticosterone methyloxidase type i deficiency
|
[NCBI]
|
7.03435e-05
|
|
|
corneal dystrophy, epithelial basement membrane
|
[NCBI]
|
7.03435e-05
|
|
|
EHBA
|
[NCBI]
|
7.03435e-05
|
|
|
frasier syndrome
|
[NCBI]
|
7.03435e-05
|
|
|
PC1
|
[NCBI]
|
6.70291e-05
|
|
|
BFH
|
[NCBI]
|
6.70291e-05
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
6.41976e-05
|
|
|
GLYS1
|
[NCBI]
|
6.41976e-05
|
|
|
takayasu arteritis
|
[NCBI]
|
6.41976e-05
|
|
|
hyperbilirubinemia, transient familial neonatal
|
[NCBI]
|
6.41976e-05
|
|
|
INAD1
|
[NCBI]
|
6.17271e-05
|
|
|
reifenstein syndrome
|
[NCBI]
|
6.17271e-05
|
|
|
NSHPT
|
[NCBI]
|
6.17271e-05
|
|
|
ADHR
|
[NCBI]
|
6.17271e-05
|
|
|
NETH
|
[NCBI]
|
5.95368e-05
|
|
|
WZS
|
[NCBI]
|
5.95368e-05
|
|
|
GINGF
|
[NCBI]
|
5.75704e-05
|
|
|
SMA4
|
[NCBI]
|
5.57869e-05
|
|
|
MCDC1
|
[NCBI]
|
5.57869e-05
|
|
|
heart block, congenital
|
[NCBI]
|
5.41558e-05
|
|
|
denys-drash syndrome
|
[NCBI]
|
5.41558e-05
|
|
|
monilethrix
|
[NCBI]
|
5.41558e-05
|
|
|
AEZ
|
[NCBI]
|
5.41558e-05
|
|
|
CDH1
|
[NCBI]
|
5.34096e-05
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
5.26535e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
5.26535e-05
|
|
|
JLNS1
|
[NCBI]
|
5.26535e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
5.12617e-05
|
|
|
omenn syndrome
|
[NCBI]
|
5.12617e-05
|
|
|
PALS
|
[NCBI]
|
5.12617e-05
|
|
|
PPCD1
|
[NCBI]
|
5.12617e-05
|
|
|
JH
|
[NCBI]
|
5.12617e-05
|
|
|
NBIA1
|
[NCBI]
|
4.99654e-05
|
|
|
diabetes insipidus, neurohypophyseal type
|
[NCBI]
|
4.99654e-05
|
|
|
ICP
|
[NCBI]
|
4.87528e-05
|
|
|
NPHS1
|
[NCBI]
|
4.87528e-05
|
|
|
MEN1
|
[NCBI]
|
4.81648e-05
|
|
|
OFD1
|
[NCBI]
|
4.7614e-05
|
|
|
HRPT1
|
[NCBI]
|
4.65408e-05
|
|
|
BFLS
|
[NCBI]
|
4.65408e-05
|
|
|
CLN2
|
[NCBI]
|
4.65408e-05
|
|
|
CJD
|
[NCBI]
|
4.51034e-05
|
|
|
HSAN1
|
[NCBI]
|
4.45645e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
4.45645e-05
|
|
|
donohue syndrome
|
[NCBI]
|
4.36505e-05
|
|
|
ehlers-danlos syndrome, type i
|
[NCBI]
|
4.36505e-05
|
|
|
PSNP1
|
[NCBI]
|
4.27799e-05
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
4.27799e-05
|
|
|
hodgkin lymphoma
|
[NCBI]
|
4.27799e-05
|
|
|
HOKPP
|
[NCBI]
|
4.1949e-05
|
|
|
AIS
|
[NCBI]
|
4.1885e-05
|
|
|
central core disease of muscle
|
[NCBI]
|
4.11544e-05
|
|
|
hepatocellular carcinoma
|
[NCBI]
|
4.03932e-05
|
|
|
EVC
|
[NCBI]
|
3.96628e-05
|
|
|
OKS
|
[NCBI]
|
3.96628e-05
|
|
|
PJS
|
[NCBI]
|
3.92635e-05
|
|
|
AIMAH
|
[NCBI]
|
3.8961e-05
|
|
|
EVC
|
[NCBI]
|
3.79914e-05
|
|
|
HHC1
|
[NCBI]
|
3.76351e-05
|
|
|
STL1
|
[NCBI]
|
3.76351e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
3.70076e-05
|
|
|
gastric cancer
|
[NCBI]
|
3.64016e-05
|
|
|
PGL1
|
[NCBI]
|
3.58158e-05
|
|
|
CMD1A
|
[NCBI]
|
3.5249e-05
|
|
|
myoclonic dystonia
|
[NCBI]
|
3.5249e-05
|
|
|
meningioma, familial
|
[NCBI]
|
3.47001e-05
|
|
|
SMA3
|
[NCBI]
|
3.4168e-05
|
|
|
MDLS
|
[NCBI]
|
3.4168e-05
|
|
|
CLN3
|
[NCBI]
|
3.4168e-05
|
|
|
SPTLC1
|
[NCBI]
|
3.24045e-05
|
|
|
MTS
|
[NCBI]
|
3.21904e-05
|
|
|
RSTS
|
[NCBI]
|
3.17299e-05
|
|
|
HSAN3
|
[NCBI]
|
3.12816e-05
|
|
|
PRPH
|
[NCBI]
|
3.10272e-05
|
|
|
VMD
|
[NCBI]
|
3.0845e-05
|
|
|
EDMD
|
[NCBI]
|
3.04194e-05
|
|
|
SCIDX1
|
[NCBI]
|
3.00044e-05
|
|
|
COL11A1
|
[NCBI]
|
2.99105e-05
|
|
|
neuroblastoma
|
[NCBI]
|
2.92044e-05
|
|
|
NCSTN
|
[NCBI]
|
2.89713e-05
|
|
|
CACNA1S
|
[NCBI]
|
2.89713e-05
|
|
|
NF2
|
[NCBI]
|
2.84415e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
2.70173e-05
|
|
|
CYP11B2
|
[NCBI]
|
2.64243e-05
|
|
|
CYBB
|
[NCBI]
|
2.58854e-05
|
|
|
anemia, sideroblastic, x-linked
|
[NCBI]
|
2.57162e-05
|
|
|
GDXY
|
[NCBI]
|
2.55517e-05
|
|
|
wolman disease
|
[NCBI]
|
2.50842e-05
|
|
|
CHH
|
[NCBI]
|
2.42091e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
2.41192e-05
|
|
|
porphyria cutanea tarda
|
[NCBI]
|
2.39934e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
2.33761e-05
|
|
|
WT1
|
[NCBI]
|
2.23728e-05
|
|
|
CCD
|
[NCBI]
|
2.11229e-05
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
2.02229e-05
|
|
|
BTK
|
[NCBI]
|
2.01285e-05
|
|
|
CGD
|
[NCBI]
|
2.00065e-05
|
|
|
COL2A1
|
[NCBI]
|
2.00015e-05
|
|
|
homocystinuria
|
[NCBI]
|
1.9816e-05
|
|
|
KRT20
|
[NCBI]
|
1.93486e-05
|
|
|
CCND1
|
[NCBI]
|
1.81837e-05
|
|
|
fabry disease
|
[NCBI]
|
1.78239e-05
|
|
|
WT1
|
[NCBI]
|
1.74619e-05
|
|
|
CDLS1
|
[NCBI]
|
1.72846e-05
|
|
|
VHL
|
[NCBI]
|
1.61061e-05
|
|
|
HFE
|
[NCBI]
|
1.58459e-05
|
|
|
AD
|
[NCBI]
|
1.56301e-05
|
|
|
ACH
|
[NCBI]
|
1.44502e-05
|
|
|
NF1
|
[NCBI]
|
1.38247e-05
|
|
|
BCNS
|
[NCBI]
|
1.28701e-05
|
|
|
PMD
|
[NCBI]
|
1.15923e-05
|
|
|
SMAX1
|
[NCBI]
|
1.10579e-05
|
|
|
PXE
|
[NCBI]
|
1.08516e-05
|
|
|
CHS
|
[NCBI]
|
9.97186e-06
|
|
|
PCNA
|
[NCBI]
|
7.70534e-06
|
|
|
KLK3
|
[NCBI]
|
7.42214e-06
|
|
|
MFS
|
[NCBI]
|
4.96104e-06
|
|
|
AFP
|
[NCBI]
|
2.81528e-06
|
|
|
CEACAM5
|
[NCBI]
|
1.89636e-06
|
|
|
CCK
|
[NCBI]
|
1.73787e-06
|
|
|
polycystic kidneys
|
[NCBI]
|
1.59995e-06
|
|
|
GFAP
|
[NCBI]
|
1.56717e-06
|
|
|
ALD
|
[NCBI]
|
1.45238e-06
|
|
|
TNF
|
[NCBI]
|
1.01322e-06
|
|
|
EGF
|
[NCBI]
|
4.40372e-07
|
|
|
CD
|
[NCBI]
|
1.28806e-07
|
|
|
FMF
|
[NCBI]
|
4.50926e-08
|
|
|
APC
|
[NCBI]
|
5.03754e-09
|
|