|
OMIM |
Link |
Information gain |
01 |
|
camptodactyly
|
[NCBI]
|
0.00131883
|
|
|
gout susceptibility 1
|
[NCBI]
|
0.00115606
|
|
|
RA
|
[NCBI]
|
0.00109014
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.000960554
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
0.000919965
|
|
|
MSSE
|
[NCBI]
|
0.000892347
|
|
|
keratosis, focal palmoplantar and gingival
|
[NCBI]
|
0.000839883
|
|
|
polydactyly, preaxial iii
|
[NCBI]
|
0.000839883
|
|
|
crome syndrome
|
[NCBI]
|
0.000839883
|
|
|
ataxia, deafness, and cardiomyopathy
|
[NCBI]
|
0.000839883
|
|
|
clubbing of digits
|
[NCBI]
|
0.000839883
|
|
|
myoclonic epilepsy, hartung type
|
[NCBI]
|
0.000839883
|
|
|
BDA3
|
[NCBI]
|
0.000839883
|
|
|
fingerprints, absence of
|
[NCBI]
|
0.000839883
|
|
|
pigmented purpuric eruption
|
[NCBI]
|
0.000839883
|
|
|
Sf
|
[NCBI]
|
0.000839883
|
|
|
facial palsy, familial recurrent peripheral
|
[NCBI]
|
0.000839883
|
|
|
histiocytosis, familial lipochrome
|
[NCBI]
|
0.000839883
|
|
|
tryptophanuria with dwarfism
|
[NCBI]
|
0.000839883
|
|
|
ADFN
|
[NCBI]
|
0.000786189
|
|
|
centralopathic epilepsy
|
[NCBI]
|
0.000743262
|
|
|
PCA
|
[NCBI]
|
0.000743262
|
|
|
SLE
|
[NCBI]
|
0.000627182
|
|
|
leri pleonosteosis
|
[NCBI]
|
0.000577041
|
|
|
ear malformation
|
[NCBI]
|
0.000577041
|
|
|
SPAX1
|
[NCBI]
|
0.000577041
|
|
|
polysyndactyly, crossed
|
[NCBI]
|
0.000577041
|
|
|
spinocerebellar ataxia with rigidity and peripheral neuropathy
|
[NCBI]
|
0.000577041
|
|
|
nystagmus, hereditary vertical
|
[NCBI]
|
0.000577041
|
|
|
teeth, odd shapes of
|
[NCBI]
|
0.000577041
|
|
|
keratitis fugax hereditaria
|
[NCBI]
|
0.000577041
|
|
|
MCOPCT1
|
[NCBI]
|
0.000577041
|
|
|
CF
|
[NCBI]
|
0.000499343
|
|
|
acromial dimples
|
[NCBI]
|
0.000479311
|
|
|
xm system
|
[NCBI]
|
0.000479311
|
|
|
thyroid hormonogenesis, genetic defect in, 3
|
[NCBI]
|
0.000479311
|
|
|
leukonychia totalis
|
[NCBI]
|
0.000479311
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.000479311
|
|
|
melkersson-rosenthal syndrome
|
[NCBI]
|
0.000479311
|
|
|
thyroid hormonogenesis, genetic defect in, 4
|
[NCBI]
|
0.000479311
|
|
|
renal-hepatic-pancreatic dysplasia with dandy-walker cyst
|
[NCBI]
|
0.000479311
|
|
|
valinemia
|
[NCBI]
|
0.000479311
|
|
|
pterygium, antecubital
|
[NCBI]
|
0.000479311
|
|
|
thrombasthenia-thrombocytopenia, hereditary
|
[NCBI]
|
0.000479311
|
|
|
koilonychia, hereditary
|
[NCBI]
|
0.000479311
|
|
|
eosinophilia, familial
|
[NCBI]
|
0.000416678
|
|
|
torus palatinus and torus mandibularis
|
[NCBI]
|
0.000370714
|
|
|
tongue, pigmented fungiform papillae of
|
[NCBI]
|
0.000370714
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000370714
|
|
|
molar i reinclusion
|
[NCBI]
|
0.000370714
|
|
|
letterer-siwe disease
|
[NCBI]
|
0.000370714
|
|
|
immune defect due to absence of thymus
|
[NCBI]
|
0.000334568
|
|
|
OSCS
|
[NCBI]
|
0.000334568
|
|
|
ACC
|
[NCBI]
|
0.000334568
|
|
|
keratosis palmoplantaris papulosa
|
[NCBI]
|
0.000334568
|
|
|
immunoglobulin m, level of
|
[NCBI]
|
0.000334568
|
|
|
myopathy with deficiency of succinate dehydrogenase and aconitase
|
[NCBI]
|
0.000334568
|
|
|
beta-aminoisobutyric acid, urinary excretion of
|
[NCBI]
|
0.000304909
|
|
|
intestinal atresia, multiple
|
[NCBI]
|
0.000304909
|
|
|
NYS2
|
[NCBI]
|
0.000304909
|
|
|
gonadal dysgenesis, xx type, with deafness
|
[NCBI]
|
0.000304909
|
|
|
gordon syndrome
|
[NCBI]
|
0.000279862
|
|
|
neutropenia, chronic familial
|
[NCBI]
|
0.000279862
|
|
|
achoo syndrome
|
[NCBI]
|
0.000279862
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
0.000279862
|
|
|
hairy ears
|
[NCBI]
|
0.000245304
|
|
|
corneal dystrophy, crystalline, of schnyder
|
[NCBI]
|
0.000239338
|
|
|
ZLS
|
[NCBI]
|
0.000239338
|
|
|
WM1
|
[NCBI]
|
0.000239338
|
|
|
hairy ears, y-linked
|
[NCBI]
|
0.000229511
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
0.000222552
|
|
|
pulmonary fibrosis, idiopathic
|
[NCBI]
|
0.00020977
|
|
|
alkaline phosphatase, blood group-associated
|
[NCBI]
|
0.000208284
|
|
|
HBA1
|
[NCBI]
|
0.000204384
|
|
|
corticosteroid-binding globulin deficiency
|
[NCBI]
|
0.000198393
|
|
|
IDDM4
|
[NCBI]
|
0.00019393
|
|
|
IBGC1
|
[NCBI]
|
0.00019393
|
|
|
CBBM
|
[NCBI]
|
0.00019393
|
|
|
HBB
|
[NCBI]
|
0.000193005
|
|
|
cirrhosis, familial
|
[NCBI]
|
0.000184252
|
|
|
CMM
|
[NCBI]
|
0.000177833
|
|
|
PGD
|
[NCBI]
|
0.000173042
|
|
|
monilethrix
|
[NCBI]
|
0.00017291
|
|
|
MCDS
|
[NCBI]
|
0.00017291
|
|
|
DURS1
|
[NCBI]
|
0.000170279
|
|
|
twinning, dizygotic
|
[NCBI]
|
0.000170279
|
|
|
earlobe attachment: attached vs unattached
|
[NCBI]
|
0.000170138
|
|
|
pterygium of conjunctiva and cornea
|
[NCBI]
|
0.000170138
|
|
|
anemia, autoimmune hemolytic
|
[NCBI]
|
0.000170138
|
|
|
pseudohermaphroditism, incomplete male, type i
|
[NCBI]
|
0.000152958
|
|
|
hand clasping pattern
|
[NCBI]
|
0.000152958
|
|
|
stomatocytosis i
|
[NCBI]
|
0.000150309
|
|
|
canavan disease
|
[NCBI]
|
0.000145003
|
|
|
HHT
|
[NCBI]
|
0.000144165
|
|
|
pulmonary alveolar microlithiasis
|
[NCBI]
|
0.000141199
|
|
|
NEM3
|
[NCBI]
|
0.000131152
|
|
|
JBTS1
|
[NCBI]
|
0.00012548
|
|
|
hemochromatosis, neonatal
|
[NCBI]
|
0.000124935
|
|
|
CBD
|
[NCBI]
|
0.000120232
|
|
|
ear wax, wet/dry
|
[NCBI]
|
0.000118819
|
|
|
IDDM
|
[NCBI]
|
0.000118376
|
|
|
scleroderma, familial progressive
|
[NCBI]
|
0.000118291
|
|
|
HLA-A
|
[NCBI]
|
0.000116235
|
|
|
reifenstein syndrome
|
[NCBI]
|
0.000113547
|
|
|
CMD1A
|
[NCBI]
|
0.000112639
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
0.000108836
|
|
|
EEC1
|
[NCBI]
|
0.000105241
|
|
|
myeloma, multiple
|
[NCBI]
|
0.00010479
|
|
|
optic atrophy with demyelinating disease of cns
|
[NCBI]
|
0.000104117
|
|
|
cutis verticis gyrata, thyroid aplasia, and mental retardation
|
[NCBI]
|
0.000104117
|
|
|
anus, imperforate
|
[NCBI]
|
0.000104117
|
|
|
melanoma, malignant familial intraocular
|
[NCBI]
|
0.000104117
|
|
|
globulin anomaly involving beta (2a)-globulin
|
[NCBI]
|
0.000104117
|
|
|
proteolytic capacity of plasma
|
[NCBI]
|
0.000104117
|
|
|
optic atrophy--spastic paraplegia syndrome
|
[NCBI]
|
0.000104117
|
|
|
monilethrix
|
[NCBI]
|
0.000104117
|
|
|
bowen syndrome of multiple malformations
|
[NCBI]
|
0.000104117
|
|
|
tracheobronchomegaly
|
[NCBI]
|
0.000104117
|
|
|
sc(1) trait of saliva
|
[NCBI]
|
0.000104117
|
|
|
blood group--en
|
[NCBI]
|
0.000104117
|
|
|
woolly hair, hypotrichosis, everted lower lip, and outstanding ears
|
[NCBI]
|
0.000104117
|
|
|
amyloidosis, cutaneous bullous
|
[NCBI]
|
0.000104117
|
|
|
symphalangism of toes
|
[NCBI]
|
0.000104117
|
|
|
toes, relative length of first and second
|
[NCBI]
|
0.000104117
|
|
|
MCOPCT2
|
[NCBI]
|
0.000104117
|
|
|
ataxia with fasciculations
|
[NCBI]
|
0.000104117
|
|
|
pulmonic stenosis and congenital nephrosis
|
[NCBI]
|
0.000104117
|
|
|
obesity-hypoventilation syndrome
|
[NCBI]
|
0.000104117
|
|
|
brachymetatarsus iv
|
[NCBI]
|
0.000104117
|
|
|
ovalocytosis, hereditary hemolytic
|
[NCBI]
|
0.000104117
|
|
|
electroencephalographic peculiarity: occipital slow beta waves
|
[NCBI]
|
0.000104117
|
|
|
leiomyoma of vulva and esophagus
|
[NCBI]
|
0.000104117
|
|
|
venular insufficiency, systemic
|
[NCBI]
|
0.000104117
|
|
|
amyotrophic dystonic paraplegia
|
[NCBI]
|
0.000104117
|
|
|
photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
|
[NCBI]
|
0.000104117
|
|
|
thumbs, congenital clasped
|
[NCBI]
|
0.000104117
|
|
|
palmomental reflex
|
[NCBI]
|
0.000104117
|
|
|
low density lipoprotein, variation in molecular weight of
|
[NCBI]
|
0.000104117
|
|
|
HBD
|
[NCBI]
|
0.000103773
|
|
|
hyperlipoproteinemia, type ii
|
[NCBI]
|
0.00010107
|
|
|
G6PD
|
[NCBI]
|
0.00010032
|
|
|
HSAN3
|
[NCBI]
|
0.000100289
|
|
|
HAE
|
[NCBI]
|
0.000100289
|
|
|
indifference to pain, congenital, autosomal recessive
|
[NCBI]
|
9.76851e-05
|
|
|
heart block, congenital
|
[NCBI]
|
9.76851e-05
|
|
|
CRC
|
[NCBI]
|
9.73558e-05
|
|
|
PPS
|
[NCBI]
|
9.45818e-05
|
|
|
JLNS1
|
[NCBI]
|
9.45818e-05
|
|
|
migraine with or without aura, susceptibility to, 1
|
[NCBI]
|
9.37098e-05
|
|
|
LNS
|
[NCBI]
|
9.26458e-05
|
|
|
coumarin resistance
|
[NCBI]
|
8.90595e-05
|
|
|
NPHS1
|
[NCBI]
|
8.65807e-05
|
|
|
NPHP1
|
[NCBI]
|
8.20773e-05
|
|
|
diabetes mellitus, insulin-dependent, 2
|
[NCBI]
|
7.87554e-05
|
|
|
HSAN1
|
[NCBI]
|
7.80732e-05
|
|
|
electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon
|
[NCBI]
|
7.64541e-05
|
|
|
heinz body anemias
|
[NCBI]
|
7.64541e-05
|
|
|
lymphedema and ptosis
|
[NCBI]
|
7.64541e-05
|
|
|
deafness, cochlear, with myopia and intellectual impairment
|
[NCBI]
|
7.64541e-05
|
|
|
ear folding
|
[NCBI]
|
7.64541e-05
|
|
|
marfanoid hypermobility syndrome
|
[NCBI]
|
7.64541e-05
|
|
|
hyperproglucagonemia
|
[NCBI]
|
7.64541e-05
|
|
|
MCOPCT3
|
[NCBI]
|
7.64541e-05
|
|
|
gynecomastia, familial
|
[NCBI]
|
7.64541e-05
|
|
|
ceroid storage disease
|
[NCBI]
|
7.64541e-05
|
|
|
laryngeal abductor paralysis
|
[NCBI]
|
7.64541e-05
|
|
|
trigeminal neuralgia
|
[NCBI]
|
7.64541e-05
|
|
|
electroencephalographic peculiarity: fronto-precentral beta wave groups
|
[NCBI]
|
7.64541e-05
|
|
|
focal epithelial hyperplasia, oral
|
[NCBI]
|
7.64541e-05
|
|
|
F8FD9
|
[NCBI]
|
7.64541e-05
|
|
|
dwarfism with stiff joints and ocular abnormalities
|
[NCBI]
|
7.64541e-05
|
|
|
magnesium, elevated red cell
|
[NCBI]
|
7.64541e-05
|
|
|
deafness, congenital, with total albinism
|
[NCBI]
|
7.64541e-05
|
|
|
myoclonic epilepsy, progressive
|
[NCBI]
|
7.64541e-05
|
|
|
megaloblastic anemia 1
|
[NCBI]
|
7.62275e-05
|
|
|
PI
|
[NCBI]
|
7.52078e-05
|
|
|
hodgkin lymphoma
|
[NCBI]
|
7.44729e-05
|
|
|
MADA
|
[NCBI]
|
7.44729e-05
|
|
|
holoprosencephaly
|
[NCBI]
|
7.43044e-05
|
|
|
AD
|
[NCBI]
|
7.01769e-05
|
|
|
HSR
|
[NCBI]
|
6.92901e-05
|
|
|
HBFQTL1
|
[NCBI]
|
6.82184e-05
|
|
|
AHO
|
[NCBI]
|
6.81074e-05
|
|
|
GEMSS
|
[NCBI]
|
6.60821e-05
|
|
|
arcus corneae
|
[NCBI]
|
6.60821e-05
|
|
|
mydriatic response to pharmacologic agents
|
[NCBI]
|
6.60821e-05
|
|
|
adenosine triphosphate, elevated, of erythrocytes
|
[NCBI]
|
6.60821e-05
|
|
|
mixed lymphocyte culture locus ii
|
[NCBI]
|
6.60821e-05
|
|
|
MG
|
[NCBI]
|
6.25287e-05
|
|
|
ACP1
|
[NCBI]
|
6.14992e-05
|
|
|
PGL1
|
[NCBI]
|
6.05599e-05
|
|
|
RHCE
|
[NCBI]
|
6.0106e-05
|
|
|
epidermolysis bullosa simplex, ogna type
|
[NCBI]
|
5.93854e-05
|
|
|
CHBL
|
[NCBI]
|
5.93854e-05
|
|
|
varicose veins
|
[NCBI]
|
5.93854e-05
|
|
|
pseudohyperkalemia cardiff
|
[NCBI]
|
5.93854e-05
|
|
|
cyanide, inability to smell
|
[NCBI]
|
5.93854e-05
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
5.93854e-05
|
|
|
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
|
[NCBI]
|
5.93854e-05
|
|
|
jumping frenchman of maine
|
[NCBI]
|
5.93854e-05
|
|
|
CSNBAD1
|
[NCBI]
|
5.93854e-05
|
|
|
EEG
|
[NCBI]
|
5.93854e-05
|
|
|
tongue curling, folding, or rolling
|
[NCBI]
|
5.93854e-05
|
|
|
corpus callosum, partial agenesis of, x-linked
|
[NCBI]
|
5.93854e-05
|
|
|
hydroxyprolinemia
|
[NCBI]
|
5.93854e-05
|
|
|
hyperlysinemia
|
[NCBI]
|
5.93854e-05
|
|
|
cardiomyopathy, dilated, autosomal recessive
|
[NCBI]
|
5.93854e-05
|
|
|
atrioventricular conduction time
|
[NCBI]
|
5.93854e-05
|
|
|
HBA2
|
[NCBI]
|
5.89511e-05
|
|
|
hemophagocytic lymphohistiocytosis, familial, 1
|
[NCBI]
|
5.87115e-05
|
|
|
OCA2
|
[NCBI]
|
5.83516e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
5.76156e-05
|
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
[NCBI]
|
5.68591e-05
|
|
|
GC
|
[NCBI]
|
5.59904e-05
|
|
|
GLC1A
|
[NCBI]
|
5.5295e-05
|
|
|
HYPP
|
[NCBI]
|
5.5295e-05
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
5.44342e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
5.44342e-05
|
|
|
FCDT
|
[NCBI]
|
5.44342e-05
|
|
|
CVG/MR
|
[NCBI]
|
5.44342e-05
|
|
|
hypotension, orthostatic
|
[NCBI]
|
5.44342e-05
|
|
|
anemia, hypochromic microcytic
|
[NCBI]
|
5.44342e-05
|
|
|
RTADR
|
[NCBI]
|
5.44342e-05
|
|
|
WARBM
|
[NCBI]
|
5.44342e-05
|
|
|
LCA2
|
[NCBI]
|
5.44342e-05
|
|
|
hypophosphatemic rickets, x-linked recessive
|
[NCBI]
|
5.44342e-05
|
|
|
cardiac conduction defect
|
[NCBI]
|
5.44342e-05
|
|
|
PGM1
|
[NCBI]
|
5.38133e-05
|
|
|
POAG
|
[NCBI]
|
5.34068e-05
|
|
|
VHL
|
[NCBI]
|
5.32743e-05
|
|
|
SCZD
|
[NCBI]
|
5.27777e-05
|
|
|
stickler syndrome, type i, nonsyndromic ocular
|
[NCBI]
|
5.05112e-05
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
5.05112e-05
|
|
|
chromosome 18p deletion syndrome
|
[NCBI]
|
5.05112e-05
|
|
|
MRT1
|
[NCBI]
|
5.05112e-05
|
|
|
buschke-ollendorff syndrome
|
[NCBI]
|
5.05112e-05
|
|
|
BDE
|
[NCBI]
|
5.05112e-05
|
|
|
whim syndrome
|
[NCBI]
|
5.05112e-05
|
|
|
frasier syndrome
|
[NCBI]
|
5.05112e-05
|
|
|
corticosterone methyloxidase type i deficiency
|
[NCBI]
|
5.05112e-05
|
|
|
polydactyly, preaxial iv
|
[NCBI]
|
5.05112e-05
|
|
|
EHBA
|
[NCBI]
|
5.05112e-05
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
5.05112e-05
|
|
|
AN1
|
[NCBI]
|
4.72675e-05
|
|
|
ALS4
|
[NCBI]
|
4.72675e-05
|
|
|
atrial septal defect with atrioventricular conduction defects
|
[NCBI]
|
4.72675e-05
|
|
|
anonychia congenita
|
[NCBI]
|
4.72675e-05
|
|
|
PC1
|
[NCBI]
|
4.72675e-05
|
|
|
HMS
|
[NCBI]
|
4.72675e-05
|
|
|
AEXS
|
[NCBI]
|
4.72675e-05
|
|
|
pierson syndrome
|
[NCBI]
|
4.72675e-05
|
|
|
XRN
|
[NCBI]
|
4.72675e-05
|
|
|
radioulnar synostosis
|
[NCBI]
|
4.72675e-05
|
|
|
orotic aciduria i
|
[NCBI]
|
4.52032e-05
|
|
|
KEL
|
[NCBI]
|
4.52032e-05
|
|
|
MEN1
|
[NCBI]
|
4.48508e-05
|
|
|
WS1
|
[NCBI]
|
4.46685e-05
|
|
|
CBP
|
[NCBI]
|
4.45282e-05
|
|
|
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
|
[NCBI]
|
4.45066e-05
|
|
|
hyperprolinemia, type i
|
[NCBI]
|
4.45066e-05
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
4.45066e-05
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
4.45066e-05
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
4.45066e-05
|
|
|
hyperbilirubinemia, transient familial neonatal
|
[NCBI]
|
4.45066e-05
|
|
|
MCOPS2
|
[NCBI]
|
4.45066e-05
|
|
|
PGM3
|
[NCBI]
|
4.389e-05
|
|
|
SHFM1
|
[NCBI]
|
4.32593e-05
|
|
|
hurler syndrome
|
[NCBI]
|
4.26659e-05
|
|
|
arbitrary restriction polymorphism 1
|
[NCBI]
|
4.21068e-05
|
|
|
MODY2
|
[NCBI]
|
4.21068e-05
|
|
|
VLDLRCH
|
[NCBI]
|
4.21068e-05
|
|
|
RHN
|
[NCBI]
|
4.21068e-05
|
|
|
PDP
|
[NCBI]
|
4.21068e-05
|
|
|
NSHPT
|
[NCBI]
|
4.21068e-05
|
|
|
polydactyly, postaxial, type a1
|
[NCBI]
|
4.21068e-05
|
|
|
ADHR
|
[NCBI]
|
4.21068e-05
|
|
|
LDHA
|
[NCBI]
|
4.11372e-05
|
|
|
HPRT1
|
[NCBI]
|
4.05208e-05
|
|
|
ALB
|
[NCBI]
|
4.02841e-05
|
|
|
NETH
|
[NCBI]
|
3.99872e-05
|
|
|
CZP1
|
[NCBI]
|
3.99872e-05
|
|
|
BRIC1
|
[NCBI]
|
3.99872e-05
|
|
|
WZS
|
[NCBI]
|
3.99872e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
3.99872e-05
|
|
|
TCOF
|
[NCBI]
|
3.96075e-05
|
|
|
von willebrand disease
|
[NCBI]
|
3.95614e-05
|
|
|
PFHB1A
|
[NCBI]
|
3.80914e-05
|
|
|
GINGF
|
[NCBI]
|
3.80914e-05
|
|
|
BDA1
|
[NCBI]
|
3.80914e-05
|
|
|
IFD
|
[NCBI]
|
3.80914e-05
|
|
|
porphyria variegata
|
[NCBI]
|
3.79191e-05
|
|
|
SVAS
|
[NCBI]
|
3.79191e-05
|
|
|
MN
|
[NCBI]
|
3.73985e-05
|
|
|
ND
|
[NCBI]
|
3.68481e-05
|
|
|
GDXY
|
[NCBI]
|
3.63802e-05
|
|
|
EPHX1
|
[NCBI]
|
3.63802e-05
|
|
|
LGMD2H
|
[NCBI]
|
3.63786e-05
|
|
|
abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
|
[NCBI]
|
3.63786e-05
|
|
|
chloramphenicol toxicity
|
[NCBI]
|
3.63786e-05
|
|
|
MCDC1
|
[NCBI]
|
3.63786e-05
|
|
|
SMA4
|
[NCBI]
|
3.63786e-05
|
|
|
SEDT
|
[NCBI]
|
3.63786e-05
|
|
|
pycnodysostosis
|
[NCBI]
|
3.63786e-05
|
|
|
HPE2
|
[NCBI]
|
3.63786e-05
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
3.56947e-05
|
|
|
TPI1
|
[NCBI]
|
3.5445e-05
|
|
|
C4B
|
[NCBI]
|
3.51495e-05
|
|
|
THC2
|
[NCBI]
|
3.48182e-05
|
|
|
EDM1
|
[NCBI]
|
3.48182e-05
|
|
|
RENS1
|
[NCBI]
|
3.48182e-05
|
|
|
CMD3B
|
[NCBI]
|
3.48182e-05
|
|
|
autoimmune disease
|
[NCBI]
|
3.48182e-05
|
|
|
denys-drash syndrome
|
[NCBI]
|
3.48182e-05
|
|
|
AEZ
|
[NCBI]
|
3.48182e-05
|
|
|
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1
|
[NCBI]
|
3.48182e-05
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
3.43061e-05
|
|
|
GSR
|
[NCBI]
|
3.35209e-05
|
|
|
CDS
|
[NCBI]
|
3.33866e-05
|
|
|
USH1C
|
[NCBI]
|
3.33866e-05
|
|
|
factor x deficiency
|
[NCBI]
|
3.3026e-05
|
|
|
MAGEB4
|
[NCBI]
|
3.2979e-05
|
|
|
SPRY3
|
[NCBI]
|
3.2979e-05
|
|
|
MAGEB6
|
[NCBI]
|
3.2979e-05
|
|
|
MAGEB3
|
[NCBI]
|
3.2979e-05
|
|
|
SAGE1
|
[NCBI]
|
3.2979e-05
|
|
|
MAGEB5
|
[NCBI]
|
3.2979e-05
|
|
|
yeast factor
|
[NCBI]
|
3.2979e-05
|
|
|
MAGEC3
|
[NCBI]
|
3.2979e-05
|
|
|
factor vii deficiency
|
[NCBI]
|
3.23219e-05
|
|
|
JH
|
[NCBI]
|
3.20654e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
3.20654e-05
|
|
|
omenn syndrome
|
[NCBI]
|
3.20654e-05
|
|
|
PALS
|
[NCBI]
|
3.20654e-05
|
|
|
dent disease 1
|
[NCBI]
|
3.20654e-05
|
|
|
PPCD1
|
[NCBI]
|
3.20654e-05
|
|
|
MCPH1
|
[NCBI]
|
3.20654e-05
|
|
|
diabetes insipidus, neurohypophyseal type
|
[NCBI]
|
3.08398e-05
|
|
|
hartnup disorder
|
[NCBI]
|
3.08398e-05
|
|
|
NS1
|
[NCBI]
|
3.07719e-05
|
|
|
HP
|
[NCBI]
|
3.05424e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
2.99528e-05
|
|
|
MAGEA4
|
[NCBI]
|
2.98718e-05
|
|
|
MAGEA11
|
[NCBI]
|
2.98718e-05
|
|
|
MAGEA10
|
[NCBI]
|
2.98718e-05
|
|
|
MAGEA12
|
[NCBI]
|
2.98718e-05
|
|
|
MAGED2
|
[NCBI]
|
2.98718e-05
|
|
|
MAGEA3
|
[NCBI]
|
2.98718e-05
|
|
|
MAGEC1
|
[NCBI]
|
2.98718e-05
|
|
|
MAGEA6
|
[NCBI]
|
2.98718e-05
|
|
|
MAGEA9
|
[NCBI]
|
2.98718e-05
|
|
|
MKKS
|
[NCBI]
|
2.96979e-05
|
|
|
dopamine beta-hydroxylase deficiency, congenital
|
[NCBI]
|
2.96979e-05
|
|
|
refsum disease
|
[NCBI]
|
2.96979e-05
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
2.96979e-05
|
|
|
longevity
|
[NCBI]
|
2.96979e-05
|
|
|
alkaptonuria
|
[NCBI]
|
2.96979e-05
|
|
|
thyroid hormonogenesis, genetic defect in, 2a
|
[NCBI]
|
2.96979e-05
|
|
|
pituitary dwarfism iii
|
[NCBI]
|
2.96979e-05
|
|
|
GPT
|
[NCBI]
|
2.8997e-05
|
|
|
OFD1
|
[NCBI]
|
2.86298e-05
|
|
|
SHEP2
|
[NCBI]
|
2.86298e-05
|
|
|
MAGEA2
|
[NCBI]
|
2.7856e-05
|
|
|
MAGEB2
|
[NCBI]
|
2.7856e-05
|
|
|
MAGEA5
|
[NCBI]
|
2.7856e-05
|
|
|
MAGEA8
|
[NCBI]
|
2.7856e-05
|
|
|
AIED
|
[NCBI]
|
2.76272e-05
|
|
|
HRPT1
|
[NCBI]
|
2.76272e-05
|
|
|
BFLS
|
[NCBI]
|
2.76272e-05
|
|
|
stroke, ischemic
|
[NCBI]
|
2.66834e-05
|
|
|
PMC
|
[NCBI]
|
2.66834e-05
|
|
|
MTHFR
|
[NCBI]
|
2.65753e-05
|
|
|
MAGEE1
|
[NCBI]
|
2.63586e-05
|
|
|
EVC
|
[NCBI]
|
2.63586e-05
|
|
|
MAGEB1
|
[NCBI]
|
2.63586e-05
|
|
|
MAGED1
|
[NCBI]
|
2.63586e-05
|
|
|
HPA-2
|
[NCBI]
|
2.63586e-05
|
|
|
APS1
|
[NCBI]
|
2.62279e-05
|
|
|
PWS
|
[NCBI]
|
2.61595e-05
|
|
|
pfeiffer syndrome
|
[NCBI]
|
2.57923e-05
|
|
|
GLC3A
|
[NCBI]
|
2.57923e-05
|
|
|
CCAL2
|
[NCBI]
|
2.57923e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
2.57923e-05
|
|
|
UCMD
|
[NCBI]
|
2.57923e-05
|
|
|
mismatch repair cancer syndrome
|
[NCBI]
|
2.57923e-05
|
|
|
COL2A1
|
[NCBI]
|
2.54163e-05
|
|
|
antithrombin iii deficiency
|
[NCBI]
|
2.51747e-05
|
|
|
BCOR
|
[NCBI]
|
2.51665e-05
|
|
|
HK3
|
[NCBI]
|
2.51665e-05
|
|
|
GRK1
|
[NCBI]
|
2.51665e-05
|
|
|
MAGEA1
|
[NCBI]
|
2.51665e-05
|
|
|
homocystinuria
|
[NCBI]
|
2.50559e-05
|
|
|
PPH1
|
[NCBI]
|
2.4949e-05
|
|
|
BCHE
|
[NCBI]
|
2.48136e-05
|
|
|
LAG5
|
[NCBI]
|
2.41761e-05
|
|
|
LNPEP
|
[NCBI]
|
2.41761e-05
|
|
|
TGD
|
[NCBI]
|
2.41491e-05
|
|
|
HOKPP
|
[NCBI]
|
2.33888e-05
|
|
|
LAMB2
|
[NCBI]
|
2.33291e-05
|
|
|
ACP2
|
[NCBI]
|
2.33291e-05
|
|
|
OPMD
|
[NCBI]
|
2.30241e-05
|
|
|
MHA
|
[NCBI]
|
2.26649e-05
|
|
|
CFNS
|
[NCBI]
|
2.26649e-05
|
|
|
FDH
|
[NCBI]
|
2.26649e-05
|
|
|
OCRL
|
[NCBI]
|
2.26649e-05
|
|
|
ODDD
|
[NCBI]
|
2.26649e-05
|
|
|
central core disease of muscle
|
[NCBI]
|
2.26649e-05
|
|
|
PEPB
|
[NCBI]
|
2.25893e-05
|
|
|
PGM2
|
[NCBI]
|
2.25893e-05
|
|
|
osteoarthritis
|
[NCBI]
|
2.19743e-05
|
|
|
hepatocellular carcinoma
|
[NCBI]
|
2.19743e-05
|
|
|
LCA1
|
[NCBI]
|
2.19743e-05
|
|
|
PEPC
|
[NCBI]
|
2.13426e-05
|
|
|
RCDP1
|
[NCBI]
|
2.13147e-05
|
|
|
FHM1
|
[NCBI]
|
2.13147e-05
|
|
|
EVC
|
[NCBI]
|
2.13147e-05
|
|
|
OKS
|
[NCBI]
|
2.13147e-05
|
|
|
DFNB1
|
[NCBI]
|
2.13147e-05
|
|
|
SPTLC1
|
[NCBI]
|
2.08068e-05
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
2.06835e-05
|
|
|
musical perfect pitch
|
[NCBI]
|
2.06835e-05
|
|
|
neural tube defects
|
[NCBI]
|
2.06835e-05
|
|
|
SPDA1
|
[NCBI]
|
2.06835e-05
|
|
|
diphosphoglycerate mutase deficiency of erythrocyte
|
[NCBI]
|
2.03162e-05
|
|
|
ADH1
|
[NCBI]
|
1.9864e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
1.95102e-05
|
|
|
DKC
|
[NCBI]
|
1.9499e-05
|
|
|
STL1
|
[NCBI]
|
1.9499e-05
|
|
|
HHC1
|
[NCBI]
|
1.9499e-05
|
|
|
FUT1
|
[NCBI]
|
1.94445e-05
|
|
|
MTND4L
|
[NCBI]
|
1.90534e-05
|
|
|
CD
|
[NCBI]
|
1.89544e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
1.89422e-05
|
|
|
hemophilia a
|
[NCBI]
|
1.84943e-05
|
|
|
SLC45A2
|
[NCBI]
|
1.83427e-05
|
|
|
COL11A1
|
[NCBI]
|
1.83427e-05
|
|
|
PFKM
|
[NCBI]
|
1.80179e-05
|
|
|
HLF
|
[NCBI]
|
1.80179e-05
|
|
|
LGMD2A
|
[NCBI]
|
1.78918e-05
|
|
|
glycogen storage disease vii
|
[NCBI]
|
1.78918e-05
|
|
|
PQBP1
|
[NCBI]
|
1.77104e-05
|
|
|
SRS
|
[NCBI]
|
1.74705e-05
|
|
|
AMY1A
|
[NCBI]
|
1.74186e-05
|
|
|
NCSTN
|
[NCBI]
|
1.74186e-05
|
|
|
myoclonic dystonia
|
[NCBI]
|
1.73957e-05
|
|
|
ALPP
|
[NCBI]
|
1.7141e-05
|
|
|
PCTT
|
[NCBI]
|
1.69174e-05
|
|
|
meningioma, familial
|
[NCBI]
|
1.69174e-05
|
|
|
BCNS
|
[NCBI]
|
1.69089e-05
|
|
|
CAPN10
|
[NCBI]
|
1.66234e-05
|
|
|
DMD
|
[NCBI]
|
1.66083e-05
|
|
|
SMA3
|
[NCBI]
|
1.6456e-05
|
|
|
WFS1
|
[NCBI]
|
1.6456e-05
|
|
|
FIH
|
[NCBI]
|
1.6456e-05
|
|
|
CLN3
|
[NCBI]
|
1.6456e-05
|
|
|
MTND3
|
[NCBI]
|
1.63813e-05
|
|
|
MTCO3
|
[NCBI]
|
1.6149e-05
|
|
|
MTND2
|
[NCBI]
|
1.5926e-05
|
|
|
LDHB
|
[NCBI]
|
1.5926e-05
|
|
|
PDS
|
[NCBI]
|
1.55801e-05
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
1.55801e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
1.55047e-05
|
|
|
GJA8
|
[NCBI]
|
1.55047e-05
|
|
|
GPX1
|
[NCBI]
|
1.55047e-05
|
|
|
PRSS1
|
[NCBI]
|
1.53053e-05
|
|
|
CYP11B2
|
[NCBI]
|
1.49267e-05
|
|
|
CST3
|
[NCBI]
|
1.49267e-05
|
|
|
APOH
|
[NCBI]
|
1.49267e-05
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
1.47612e-05
|
|
|
AK1
|
[NCBI]
|
1.47465e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
1.47465e-05
|
|
|
OFC1
|
[NCBI]
|
1.47132e-05
|
|
|
MTND6
|
[NCBI]
|
1.4572e-05
|
|
|
MTND5
|
[NCBI]
|
1.4572e-05
|
|
|
BMD
|
[NCBI]
|
1.43714e-05
|
|
|
pyruvate kinase deficiency of red cells
|
[NCBI]
|
1.43714e-05
|
|
|
IGER
|
[NCBI]
|
1.43714e-05
|
|
|
RSTS
|
[NCBI]
|
1.43714e-05
|
|
|
anemia, sideroblastic, x-linked
|
[NCBI]
|
1.42387e-05
|
|
|
complement component 2 deficiency
|
[NCBI]
|
1.42387e-05
|
|
|
PEPD
|
[NCBI]
|
1.42387e-05
|
|
|
MTCO2
|
[NCBI]
|
1.40792e-05
|
|
|
IGKC
|
[NCBI]
|
1.40792e-05
|
|
|
MTCO1
|
[NCBI]
|
1.37734e-05
|
|
|
VMD
|
[NCBI]
|
1.36279e-05
|
|
|
XPA
|
[NCBI]
|
1.36279e-05
|
|
|
ABO
|
[NCBI]
|
1.36267e-05
|
|
|
RS1
|
[NCBI]
|
1.36267e-05
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
1.34837e-05
|
|
|
PKLR
|
[NCBI]
|
1.34837e-05
|
|
|
ABL
|
[NCBI]
|
1.3273e-05
|
|
|
EDMD
|
[NCBI]
|
1.3273e-05
|
|
|
BRAF
|
[NCBI]
|
1.29466e-05
|
|
|
LPA
|
[NCBI]
|
1.29466e-05
|
|
|
MTCYB
|
[NCBI]
|
1.29466e-05
|
|
|
sotos syndrome
|
[NCBI]
|
1.29287e-05
|
|
|
SCIDX1
|
[NCBI]
|
1.29287e-05
|
|
|
FMF
|
[NCBI]
|
1.24665e-05
|
|
|
GPI
|
[NCBI]
|
1.24138e-05
|
|
|
HBG2
|
[NCBI]
|
1.23422e-05
|
|
|
ALAD
|
[NCBI]
|
1.23422e-05
|
|
|
NPS
|
[NCBI]
|
1.22701e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
1.22701e-05
|
|
|
RP2
|
[NCBI]
|
1.21182e-05
|
|
|
TBG
|
[NCBI]
|
1.21182e-05
|
|
|
NP
|
[NCBI]
|
1.21182e-05
|
|
|
SH2D1A
|
[NCBI]
|
1.20096e-05
|
|
|
HS
|
[NCBI]
|
1.20096e-05
|
|
|
isoniazid inactivation
|
[NCBI]
|
1.20096e-05
|
|
|
galactosemia
|
[NCBI]
|
1.1955e-05
|
|
|
F13A1
|
[NCBI]
|
1.19031e-05
|
|
|
CFB
|
[NCBI]
|
1.19031e-05
|
|
|
MTND1
|
[NCBI]
|
1.19031e-05
|
|
|
AIS
|
[NCBI]
|
1.18941e-05
|
|
|
CHS
|
[NCBI]
|
1.18941e-05
|
|
|
GALT
|
[NCBI]
|
1.17988e-05
|
|
|
HNPP
|
[NCBI]
|
1.16486e-05
|
|
|
BWS
|
[NCBI]
|
1.13851e-05
|
|
|
maple syrup urine disease
|
[NCBI]
|
1.13509e-05
|
|
|
CDH1
|
[NCBI]
|
1.11206e-05
|
|
|
PGK1
|
[NCBI]
|
1.11206e-05
|
|
|
WT1
|
[NCBI]
|
1.10304e-05
|
|
|
MTND4
|
[NCBI]
|
1.10304e-05
|
|
|
CCR5
|
[NCBI]
|
1.02824e-05
|
|
|
ABCD1
|
[NCBI]
|
1.02824e-05
|
|
|
VWS
|
[NCBI]
|
1.02384e-05
|
|
|
SLOS
|
[NCBI]
|
9.98523e-06
|
|
|
FGA
|
[NCBI]
|
9.90937e-06
|
|
|
HBG1
|
[NCBI]
|
9.76746e-06
|
|
|
BPES
|
[NCBI]
|
9.72535e-06
|
|
|
TS
|
[NCBI]
|
9.69014e-06
|
|
|
MKS1
|
[NCBI]
|
9.47869e-06
|
|
|
APOB
|
[NCBI]
|
9.2448e-06
|
|
|
HOS
|
[NCBI]
|
9.23832e-06
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
8.87257e-06
|
|
|
CHH
|
[NCBI]
|
8.33544e-06
|
|
|
GNAS
|
[NCBI]
|
8.11555e-06
|
|
|
MYOC
|
[NCBI]
|
7.96774e-06
|
|
|
hypertension, essential
|
[NCBI]
|
7.1372e-06
|
|
|
ALS1
|
[NCBI]
|
7.1372e-06
|
|
|
CDKN2A
|
[NCBI]
|
7.08609e-06
|
|
|
INSR
|
[NCBI]
|
6.77602e-06
|
|
|
SDS
|
[NCBI]
|
6.42838e-06
|
|
|
PON1
|
[NCBI]
|
6.38218e-06
|
|
|
PTEN
|
[NCBI]
|
6.11658e-06
|
|
|
CCD
|
[NCBI]
|
6.09796e-06
|
|
|
PSORS1
|
[NCBI]
|
5.78239e-06
|
|
|
BLM
|
[NCBI]
|
5.33518e-06
|
|
|
WRN
|
[NCBI]
|
5.19273e-06
|
|
|
HFE
|
[NCBI]
|
5.14488e-06
|
|
|
GJB2
|
[NCBI]
|
5.11955e-06
|
|
|
wilson disease
|
[NCBI]
|
5.05346e-06
|
|
|
EPOR
|
[NCBI]
|
4.89872e-06
|
|
|
CEACAM5
|
[NCBI]
|
4.68138e-06
|
|
|
phenylketonuria
|
[NCBI]
|
4.26387e-06
|
|
|
ZS
|
[NCBI]
|
4.04461e-06
|
|
|
TF
|
[NCBI]
|
4.02293e-06
|
|
|
APC
|
[NCBI]
|
3.96475e-06
|
|
|
fabry disease
|
[NCBI]
|
3.93067e-06
|
|
|
WT1
|
[NCBI]
|
3.71026e-06
|
|
|
SERPINA6
|
[NCBI]
|
3.67364e-06
|
|
|
GTS
|
[NCBI]
|
3.66399e-06
|
|
|
CDLS1
|
[NCBI]
|
3.60367e-06
|
|
|
SOD1
|
[NCBI]
|
3.4135e-06
|
|
|
giant platelet syndrome
|
[NCBI]
|
3.20025e-06
|
|
|
AT
|
[NCBI]
|
3.11288e-06
|
|
|
MPO
|
[NCBI]
|
2.87792e-06
|
|
|
CP
|
[NCBI]
|
2.76893e-06
|
|
|
CMH
|
[NCBI]
|
2.5756e-06
|
|
|
hypercholesterolemia, autosomal dominant
|
[NCBI]
|
2.5756e-06
|
|
|
LDLR
|
[NCBI]
|
2.57493e-06
|
|
|
FRDA
|
[NCBI]
|
2.49416e-06
|
|
|
IP
|
[NCBI]
|
2.33674e-06
|
|
|
CVID
|
[NCBI]
|
2.23089e-06
|
|
|
WAS
|
[NCBI]
|
1.84604e-06
|
|
|
MB
|
[NCBI]
|
1.54612e-06
|
|
|
CHAT
|
[NCBI]
|
1.02657e-06
|
|
|
amyloidosis vi
|
[NCBI]
|
9.89217e-07
|
|
|
HPS
|
[NCBI]
|
9.77341e-07
|
|
|
RTT
|
[NCBI]
|
9.6059e-07
|
|
|
FSHMD1A
|
[NCBI]
|
8.64826e-07
|
|
|
PMD
|
[NCBI]
|
8.12846e-07
|
|
|
SMAX1
|
[NCBI]
|
6.32443e-07
|
|
|
PXE
|
[NCBI]
|
5.67713e-07
|
|
|
APOE
|
[NCBI]
|
5.41404e-07
|
|
|
MFS
|
[NCBI]
|
4.85689e-07
|
|
|
VDR
|
[NCBI]
|
2.79869e-07
|
|
|
AS
|
[NCBI]
|
2.54231e-07
|
|
|
TTR
|
[NCBI]
|
2.33438e-07
|
|
|
PJS
|
[NCBI]
|
1.13669e-07
|
|
|
WBS
|
[NCBI]
|
1.01288e-07
|
|
|
MAFD1
|
[NCBI]
|
4.73216e-08
|
|
|
CAT
|
[NCBI]
|
2.15887e-08
|
|
|
ADA
|
[NCBI]
|
1.66891e-09
|
|
|
leber optic atrophy
|
[NCBI]
|
6.79323e-10
|
|