|
OMIM |
Link |
Information gain |
01 |
|
RA
|
[NCBI]
|
0.00207212
|
|
|
SLE
|
[NCBI]
|
0.00156468
|
|
|
SHFM1
|
[NCBI]
|
0.00139754
|
|
|
microcephaly, autosomal dominant
|
[NCBI]
|
0.00118923
|
|
|
MCOPS6
|
[NCBI]
|
0.00103262
|
|
|
CES
|
[NCBI]
|
0.000963455
|
|
|
dilution, pigmentary
|
[NCBI]
|
0.000882361
|
|
|
spinocerebellar ataxia 29
|
[NCBI]
|
0.000834919
|
|
|
acromial dimples
|
[NCBI]
|
0.000750398
|
|
|
DSMA3
|
[NCBI]
|
0.000750398
|
|
|
ZLS
|
[NCBI]
|
0.000741822
|
|
|
chromosome 10q deletion syndrome
|
[NCBI]
|
0.000660977
|
|
|
ETM2
|
[NCBI]
|
0.000660977
|
|
|
CF
|
[NCBI]
|
0.000635345
|
|
|
PKS
|
[NCBI]
|
0.000631653
|
|
|
PCD
|
[NCBI]
|
0.000623828
|
|
|
JBTS2
|
[NCBI]
|
0.000593323
|
|
|
DYTCA
|
[NCBI]
|
0.000589075
|
|
|
leg, absence deformity of, with congenital cataract
|
[NCBI]
|
0.000589075
|
|
|
ameloonychohypohidrotic syndrome
|
[NCBI]
|
0.000589075
|
|
|
heterotopia, periventricular, associated with chromosome 5p anomalies
|
[NCBI]
|
0.000589075
|
|
|
mesomelic dwarfism of hypoplastic tibia and radius type
|
[NCBI]
|
0.000589075
|
|
|
coxa vara
|
[NCBI]
|
0.000589075
|
|
|
WHS
|
[NCBI]
|
0.000540856
|
|
|
chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000539068
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000537783
|
|
|
EEC1
|
[NCBI]
|
0.00051967
|
|
|
microtia with meatal atresia and conductive deafness
|
[NCBI]
|
0.000455423
|
|
|
PCA
|
[NCBI]
|
0.000421945
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
0.000418288
|
|
|
corneal dystrophy, crystalline, of schnyder
|
[NCBI]
|
0.000392423
|
|
|
ehlers-danlos syndrome, type vib
|
[NCBI]
|
0.000392423
|
|
|
LGMD1F
|
[NCBI]
|
0.000374861
|
|
|
hypercalciuria, absorptive, 1
|
[NCBI]
|
0.000374861
|
|
|
deafness, congenital, with vitiligo and achalasia
|
[NCBI]
|
0.000374861
|
|
|
ataxia, sensory, autosomal dominant
|
[NCBI]
|
0.000374861
|
|
|
bulbar palsy, progressive, of childhood
|
[NCBI]
|
0.000374861
|
|
|
pterygium, antecubital
|
[NCBI]
|
0.000374861
|
|
|
teeth, odd shapes of
|
[NCBI]
|
0.000374861
|
|
|
cleft palate-lateral synechia syndrome
|
[NCBI]
|
0.000374861
|
|
|
retinal cone dystrophy 2
|
[NCBI]
|
0.000374861
|
|
|
mental health wellness 1
|
[NCBI]
|
0.000374861
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
0.000368412
|
|
|
SMS
|
[NCBI]
|
0.000361737
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
0.000342396
|
|
|
FRNS
|
[NCBI]
|
0.000336384
|
|
|
SRS
|
[NCBI]
|
0.000329782
|
|
|
myeloproliferative syndrome, transient
|
[NCBI]
|
0.000311812
|
|
|
mesothelioma, malignant
|
[NCBI]
|
0.000301293
|
|
|
PDR
|
[NCBI]
|
0.000296339
|
|
|
basilar impression, primary
|
[NCBI]
|
0.000296339
|
|
|
laterality defects, autosomal dominant
|
[NCBI]
|
0.000296339
|
|
|
vitreoretinal degeneration, snowflake type
|
[NCBI]
|
0.000296339
|
|
|
erythrokeratodermia variabilis 3
|
[NCBI]
|
0.000296339
|
|
|
cerebellar hypoplasia, mental retardation, and quadrupedal locomotion
|
[NCBI]
|
0.000296339
|
|
|
dermal ridges, patternless
|
[NCBI]
|
0.000296339
|
|
|
mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
|
[NCBI]
|
0.000296339
|
|
|
nablus mask-like facial syndrome
|
[NCBI]
|
0.000296339
|
|
|
myopathy, hyaline body, autosomal recessive
|
[NCBI]
|
0.000296339
|
|
|
cerebellar atrophy with progressive microcephaly
|
[NCBI]
|
0.000296339
|
|
|
amelogenesis imperfecta, hypoplastic type
|
[NCBI]
|
0.000296339
|
|
|
hip dysplasia, beukes type
|
[NCBI]
|
0.000296339
|
|
|
restless legs syndrome, susceptibility to, 3
|
[NCBI]
|
0.000296339
|
|
|
SCAR6
|
[NCBI]
|
0.000296339
|
|
|
ATFB1
|
[NCBI]
|
0.000296339
|
|
|
MAFD1
|
[NCBI]
|
0.000289279
|
|
|
COFS1
|
[NCBI]
|
0.0002852
|
|
|
BCR
|
[NCBI]
|
0.000283448
|
|
|
ACC
|
[NCBI]
|
0.00026671
|
|
|
anencephaly
|
[NCBI]
|
0.00026671
|
|
|
WM1
|
[NCBI]
|
0.00026671
|
|
|
SHFM3
|
[NCBI]
|
0.000251358
|
|
|
nievergelt syndrome
|
[NCBI]
|
0.000246661
|
|
|
muscular dystrophy, congenital, merosin-positive
|
[NCBI]
|
0.000246661
|
|
|
AXPC1
|
[NCBI]
|
0.000246661
|
|
|
AMMECR1
|
[NCBI]
|
0.000246661
|
|
|
CORD5
|
[NCBI]
|
0.000246661
|
|
|
MCOPS4
|
[NCBI]
|
0.000246661
|
|
|
hernia, hiatus
|
[NCBI]
|
0.000246661
|
|
|
horner syndrome, congenital
|
[NCBI]
|
0.000246661
|
|
|
ectopia lentis with ectopia of pupil
|
[NCBI]
|
0.000246661
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.000246661
|
|
|
CVD1
|
[NCBI]
|
0.000246661
|
|
|
indifference to pain, congenital, autosomal dominant
|
[NCBI]
|
0.000246661
|
|
|
noonan syndrome 2
|
[NCBI]
|
0.000246661
|
|
|
cavitary optic disc anomalies
|
[NCBI]
|
0.000246661
|
|
|
CRC
|
[NCBI]
|
0.000234787
|
|
|
monosomy 1p36 syndrome
|
[NCBI]
|
0.000226406
|
|
|
AOS
|
[NCBI]
|
0.000223299
|
|
|
DWS
|
[NCBI]
|
0.000223299
|
|
|
CDLS1
|
[NCBI]
|
0.000221541
|
|
|
microtia-anotia
|
[NCBI]
|
0.000210682
|
|
|
VDEGS
|
[NCBI]
|
0.000210682
|
|
|
dysgnathia complex
|
[NCBI]
|
0.000210682
|
|
|
thrombocytopenia, autosomal recessive
|
[NCBI]
|
0.000210682
|
|
|
GSM1
|
[NCBI]
|
0.000210682
|
|
|
peyronie disease
|
[NCBI]
|
0.000210682
|
|
|
eosinophilia, familial
|
[NCBI]
|
0.000210682
|
|
|
scheuermann disease
|
[NCBI]
|
0.000210682
|
|
|
HTC2
|
[NCBI]
|
0.000210682
|
|
|
IBGC1
|
[NCBI]
|
0.000199794
|
|
|
hemangioma, capillary infantile
|
[NCBI]
|
0.000182772
|
|
|
AUTS4
|
[NCBI]
|
0.000182772
|
|
|
CTPP1
|
[NCBI]
|
0.000182772
|
|
|
NNO1
|
[NCBI]
|
0.000182772
|
|
|
SPG15
|
[NCBI]
|
0.000182772
|
|
|
thyroid hormonogenesis, genetic defect in, 4
|
[NCBI]
|
0.000182772
|
|
|
CMD1B
|
[NCBI]
|
0.000182772
|
|
|
nipples, supernumerary
|
[NCBI]
|
0.000182772
|
|
|
GBY
|
[NCBI]
|
0.000182772
|
|
|
PGL2
|
[NCBI]
|
0.000182772
|
|
|
MLL
|
[NCBI]
|
0.000178105
|
|
|
CRS1
|
[NCBI]
|
0.000174727
|
|
|
AFP
|
[NCBI]
|
0.000173813
|
|
|
AS
|
[NCBI]
|
0.000171358
|
|
|
VUR1
|
[NCBI]
|
0.000168989
|
|
|
mental retardation, fra12a type
|
[NCBI]
|
0.00016059
|
|
|
RCD1
|
[NCBI]
|
0.000160193
|
|
|
sclerotylosis
|
[NCBI]
|
0.000160193
|
|
|
SHFM2
|
[NCBI]
|
0.000160193
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000160193
|
|
|
metatropic dwarfism
|
[NCBI]
|
0.000160193
|
|
|
BRCD1
|
[NCBI]
|
0.000160193
|
|
|
CHED1
|
[NCBI]
|
0.000160193
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.000160193
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal dominant
|
[NCBI]
|
0.000160193
|
|
|
alpha-thalassemia/mental retardation syndrome, deletion-type
|
[NCBI]
|
0.000159403
|
|
|
JBTS1
|
[NCBI]
|
0.000151283
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
0.000141404
|
|
|
klippel-feil syndrome, autosomal dominant
|
[NCBI]
|
0.000141404
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.000141404
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
0.000141404
|
|
|
PWS
|
[NCBI]
|
0.000136195
|
|
|
VEGF
|
[NCBI]
|
0.000133266
|
|
|
LDHB
|
[NCBI]
|
0.00012581
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.000125448
|
|
|
immune defect due to absence of thymus
|
[NCBI]
|
0.000125448
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.000125448
|
|
|
hypertension with brachydactyly
|
[NCBI]
|
0.000125448
|
|
|
cluster headache, familial
|
[NCBI]
|
0.000125448
|
|
|
aortic aneurysm, familial thoracic 1
|
[NCBI]
|
0.000125448
|
|
|
acrodysostosis
|
[NCBI]
|
0.000125448
|
|
|
HTC1
|
[NCBI]
|
0.000125448
|
|
|
gonadal dysgenesis, xx type, with deafness
|
[NCBI]
|
0.000125448
|
|
|
spinocerebellar ataxia, 16q22-linked
|
[NCBI]
|
0.000124278
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
0.000124278
|
|
|
spondyloepimetaphyseal dysplasia, type ii
|
[NCBI]
|
0.00012088
|
|
|
DDU
|
[NCBI]
|
0.00012088
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
0.000119524
|
|
|
ACP1
|
[NCBI]
|
0.000114424
|
|
|
BPES
|
[NCBI]
|
0.0001139
|
|
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
0.000111691
|
|
|
iminoglycinuria
|
[NCBI]
|
0.000111691
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.000111691
|
|
|
MCOP1
|
[NCBI]
|
0.000111691
|
|
|
RB1
|
[NCBI]
|
0.00011071
|
|
|
MVP
|
[NCBI]
|
0.000108405
|
|
|
HPE5
|
[NCBI]
|
0.000107041
|
|
|
anal atresia, hypospadias, and penoscrotal inversion
|
[NCBI]
|
0.000107041
|
|
|
monosomy 9p syndrome
|
[NCBI]
|
0.000107041
|
|
|
nondisjunction
|
[NCBI]
|
0.000104352
|
|
|
HMI
|
[NCBI]
|
0.000103738
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000102468
|
|
|
MSX1
|
[NCBI]
|
9.98974e-05
|
|
|
SEMDJL
|
[NCBI]
|
9.96923e-05
|
|
|
porokeratosis of mibelli
|
[NCBI]
|
9.96923e-05
|
|
|
MCOPS1
|
[NCBI]
|
9.96923e-05
|
|
|
OFD4
|
[NCBI]
|
9.96923e-05
|
|
|
short rib-polydactyly syndrome, type iii
|
[NCBI]
|
9.96923e-05
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
9.96923e-05
|
|
|
OTSC1
|
[NCBI]
|
9.96923e-05
|
|
|
CARASIL
|
[NCBI]
|
9.96923e-05
|
|
|
pycnodysostosis
|
[NCBI]
|
9.83503e-05
|
|
|
recombinant chromosome 8 syndrome
|
[NCBI]
|
9.75878e-05
|
|
|
TCPT
|
[NCBI]
|
9.75878e-05
|
|
|
iris coloboma with ptosis, hypertelorism, and mental retardation
|
[NCBI]
|
9.75878e-05
|
|
|
JBS
|
[NCBI]
|
9.56324e-05
|
|
|
TRPS2
|
[NCBI]
|
9.36051e-05
|
|
|
campomelic dysplasia
|
[NCBI]
|
9.36051e-05
|
|
|
CHRNA7
|
[NCBI]
|
9.1326e-05
|
|
|
SIX6
|
[NCBI]
|
9.1326e-05
|
|
|
ORM1
|
[NCBI]
|
9.1326e-05
|
|
|
duodenal atresia
|
[NCBI]
|
9.0379e-05
|
|
|
witkop syndrome
|
[NCBI]
|
9.0379e-05
|
|
|
SJS1
|
[NCBI]
|
8.94753e-05
|
|
|
SHFLD1
|
[NCBI]
|
8.91294e-05
|
|
|
EDMD2
|
[NCBI]
|
8.83744e-05
|
|
|
FSHMD1A
|
[NCBI]
|
8.78991e-05
|
|
|
PSEN1
|
[NCBI]
|
8.49143e-05
|
|
|
sick sinus syndrome, autosomal dominant
|
[NCBI]
|
8.45516e-05
|
|
|
fragile site 2q11
|
[NCBI]
|
8.45516e-05
|
|
|
HGPPS
|
[NCBI]
|
8.45516e-05
|
|
|
AD
|
[NCBI]
|
8.45048e-05
|
|
|
NBS1
|
[NCBI]
|
8.41491e-05
|
|
|
SOX9
|
[NCBI]
|
8.41491e-05
|
|
|
PPS
|
[NCBI]
|
8.21752e-05
|
|
|
PML
|
[NCBI]
|
8.00532e-05
|
|
|
FEB1
|
[NCBI]
|
7.97626e-05
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
7.97626e-05
|
|
|
AN1
|
[NCBI]
|
7.96646e-05
|
|
|
cataract-microcornea syndrome
|
[NCBI]
|
7.96646e-05
|
|
|
JBTS3
|
[NCBI]
|
7.96646e-05
|
|
|
SHANK3
|
[NCBI]
|
7.73324e-05
|
|
|
SKI
|
[NCBI]
|
7.73324e-05
|
|
|
RIEG1
|
[NCBI]
|
7.67783e-05
|
|
|
DGS
|
[NCBI]
|
7.65808e-05
|
|
|
macular dystrophy, fenestrated sheen type
|
[NCBI]
|
7.58323e-05
|
|
|
navicular bone, accessory
|
[NCBI]
|
7.58323e-05
|
|
|
cardiac septal defects with coarctation of the aorta
|
[NCBI]
|
7.58323e-05
|
|
|
ulna and fibula, hypoplasia of
|
[NCBI]
|
7.58323e-05
|
|
|
dwarfism, mental retardation, and eye abnormality
|
[NCBI]
|
7.58323e-05
|
|
|
insensitivity to pain with hyperplastic myelinopathy
|
[NCBI]
|
7.58323e-05
|
|
|
symphalangism with multiple anomalies of hands and feet
|
[NCBI]
|
7.58323e-05
|
|
|
deafness, neural, congenital moderate
|
[NCBI]
|
7.58323e-05
|
|
|
deafness, progressive, with stapes fixation
|
[NCBI]
|
7.58323e-05
|
|
|
brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay
|
[NCBI]
|
7.58323e-05
|
|
|
exostosis, dupuytren subungual
|
[NCBI]
|
7.58323e-05
|
|
|
uruguay faciocardiomusculoskeletal syndrome
|
[NCBI]
|
7.58323e-05
|
|
|
retinoschisis, autosomal dominant
|
[NCBI]
|
7.58323e-05
|
|
|
aphalangy with hemivertebrae
|
[NCBI]
|
7.58323e-05
|
|
|
spondyloepiphyseal dysplasia, myopia, and sensorineural deafness
|
[NCBI]
|
7.58323e-05
|
|
|
pechet factor deficiency
|
[NCBI]
|
7.58323e-05
|
|
|
dental noneruption
|
[NCBI]
|
7.58323e-05
|
|
|
muscular hypertonia, lethal
|
[NCBI]
|
7.58323e-05
|
|
|
incisors, shovel-shaped
|
[NCBI]
|
7.58323e-05
|
|
|
STALE
|
[NCBI]
|
7.58323e-05
|
|
|
charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined
|
[NCBI]
|
7.58323e-05
|
|
|
testes, rudimentary
|
[NCBI]
|
7.58323e-05
|
|
|
nephropathy, progressive tubulointerstitial, with cholestatic liver disease
|
[NCBI]
|
7.58323e-05
|
|
|
dermatoglyphics--hypothenar radial arch
|
[NCBI]
|
7.58323e-05
|
|
|
hyperparathyroidism, neonatal self-limited primary, with hypercalciuria
|
[NCBI]
|
7.58323e-05
|
|
|
hemophilia a with vascular abnormality
|
[NCBI]
|
7.58323e-05
|
|
|
cranioacrofacial syndrome
|
[NCBI]
|
7.58323e-05
|
|
|
spondyloepiphyseal dysplasia with atlantoaxial instability
|
[NCBI]
|
7.58323e-05
|
|
|
craniosynostosis, philadelphia type
|
[NCBI]
|
7.58323e-05
|
|
|
syndactyly with renal and anogenital malformations
|
[NCBI]
|
7.58323e-05
|
|
|
teeth, noneruption of, with maxillary hypoplasia and genu valgum
|
[NCBI]
|
7.58323e-05
|
|
|
simosa craniofacial syndrome
|
[NCBI]
|
7.58323e-05
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
7.54604e-05
|
|
|
MEG3
|
[NCBI]
|
7.42681e-05
|
|
|
ESD
|
[NCBI]
|
7.40632e-05
|
|
|
DCC
|
[NCBI]
|
7.25631e-05
|
|
|
hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
|
[NCBI]
|
7.17751e-05
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
7.14073e-05
|
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
|
[NCBI]
|
7.14073e-05
|
|
|
LCK
|
[NCBI]
|
6.92949e-05
|
|
|
hypouricemia, renal
|
[NCBI]
|
6.84976e-05
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
6.84976e-05
|
|
|
RMS2
|
[NCBI]
|
6.84976e-05
|
|
|
MN
|
[NCBI]
|
6.72176e-05
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
6.55492e-05
|
|
|
CDB1
|
[NCBI]
|
6.55492e-05
|
|
|
usher syndrome, type i
|
[NCBI]
|
6.51461e-05
|
|
|
MDLS
|
[NCBI]
|
6.51461e-05
|
|
|
FA
|
[NCBI]
|
6.40824e-05
|
|
|
ACG1A
|
[NCBI]
|
6.39186e-05
|
|
|
TCRB
|
[NCBI]
|
6.36329e-05
|
|
|
NF2
|
[NCBI]
|
6.33365e-05
|
|
|
ACCPN
|
[NCBI]
|
6.28722e-05
|
|
|
FRA16A
|
[NCBI]
|
6.28722e-05
|
|
|
acheiropody
|
[NCBI]
|
6.28722e-05
|
|
|
disorganization, mouse, homolog of
|
[NCBI]
|
6.28722e-05
|
|
|
LGMD1A
|
[NCBI]
|
6.28722e-05
|
|
|
CADASIL
|
[NCBI]
|
6.2706e-05
|
|
|
HD
|
[NCBI]
|
6.26902e-05
|
|
|
chromosome 5q deletion syndrome
|
[NCBI]
|
6.04228e-05
|
|
|
DKC
|
[NCBI]
|
6.04124e-05
|
|
|
BLM
|
[NCBI]
|
6.02776e-05
|
|
|
CREBL2
|
[NCBI]
|
5.94051e-05
|
|
|
ZNF141
|
[NCBI]
|
5.94051e-05
|
|
|
DSCR4
|
[NCBI]
|
5.94051e-05
|
|
|
LRPAP1
|
[NCBI]
|
5.94051e-05
|
|
|
LAP3
|
[NCBI]
|
5.94051e-05
|
|
|
APPL2
|
[NCBI]
|
5.94051e-05
|
|
|
KCNMB3
|
[NCBI]
|
5.94051e-05
|
|
|
UPK1A
|
[NCBI]
|
5.94051e-05
|
|
|
UPK2
|
[NCBI]
|
5.94051e-05
|
|
|
ZNF195
|
[NCBI]
|
5.94051e-05
|
|
|
CECR1
|
[NCBI]
|
5.94051e-05
|
|
|
MLF2
|
[NCBI]
|
5.94051e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
5.93158e-05
|
|
|
SFD
|
[NCBI]
|
5.81669e-05
|
|
|
GRTH
|
[NCBI]
|
5.81669e-05
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
5.71809e-05
|
|
|
wolff-parkinson-white syndrome
|
[NCBI]
|
5.60776e-05
|
|
|
GVM
|
[NCBI]
|
5.60776e-05
|
|
|
CFTD
|
[NCBI]
|
5.41335e-05
|
|
|
metaphyseal chondrodysplasia, spahr type
|
[NCBI]
|
5.3511e-05
|
|
|
tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities
|
[NCBI]
|
5.3511e-05
|
|
|
hydrocephalus, skeletal anomalies, and mental disturbance
|
[NCBI]
|
5.3511e-05
|
|
|
revesz syndrome
|
[NCBI]
|
5.3511e-05
|
|
|
anal sphincter myopathy, internal
|
[NCBI]
|
5.3511e-05
|
|
|
blepharonasofacial malformation syndrome
|
[NCBI]
|
5.3511e-05
|
|
|
cerebellar ataxia, deafness, and narcolepsy
|
[NCBI]
|
5.3511e-05
|
|
|
renal, genital, and middle ear anomalies
|
[NCBI]
|
5.3511e-05
|
|
|
chromosome 9q subtelomeric deletion syndrome
|
[NCBI]
|
5.3511e-05
|
|
|
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease
|
[NCBI]
|
5.3511e-05
|
|
|
breasts and nipples, absence of
|
[NCBI]
|
5.3511e-05
|
|
|
brain small vessel disease with hemorrhage
|
[NCBI]
|
5.3511e-05
|
|
|
HPE7
|
[NCBI]
|
5.3511e-05
|
|
|
CCA3
|
[NCBI]
|
5.3511e-05
|
|
|
phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia
|
[NCBI]
|
5.3511e-05
|
|
|
edinburgh malformation syndrome
|
[NCBI]
|
5.3511e-05
|
|
|
intrauterine growth retardation with increased mitomycin c sensitivity
|
[NCBI]
|
5.3511e-05
|
|
|
thymic-renal-anal-lung dysplasia
|
[NCBI]
|
5.3511e-05
|
|
|
mental health wellness 2
|
[NCBI]
|
5.3511e-05
|
|
|
reticular dystrophy of retinal pigment epithelium
|
[NCBI]
|
5.3511e-05
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
5.31695e-05
|
|
|
AK1
|
[NCBI]
|
5.2718e-05
|
|
|
PTCH1
|
[NCBI]
|
5.2718e-05
|
|
|
down syndrome
|
[NCBI]
|
5.15514e-05
|
|
|
CEACAM5
|
[NCBI]
|
5.11025e-05
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
5.11e-05
|
|
|
MRD
|
[NCBI]
|
5.11e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
|
[NCBI]
|
5.06128e-05
|
|
|
abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
|
[NCBI]
|
5.06128e-05
|
|
|
HP
|
[NCBI]
|
4.99418e-05
|
|
|
BWS
|
[NCBI]
|
4.89807e-05
|
|
|
ETV6
|
[NCBI]
|
4.85951e-05
|
|
|
neuroblastoma
|
[NCBI]
|
4.82225e-05
|
|
|
CSF2
|
[NCBI]
|
4.78696e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
4.74961e-05
|
|
|
RHO
|
[NCBI]
|
4.73501e-05
|
|
|
PTH
|
[NCBI]
|
4.68289e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
4.60642e-05
|
|
|
SCA1
|
[NCBI]
|
4.56824e-05
|
|
|
ZNF151
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF136
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF214
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF154
|
[NCBI]
|
4.56496e-05
|
|
|
DISC2
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF215
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF131
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF155
|
[NCBI]
|
4.56496e-05
|
|
|
INSL4
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF135
|
[NCBI]
|
4.56496e-05
|
|
|
vesicle amine transport protein 1
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF138
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF143
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF133
|
[NCBI]
|
4.56496e-05
|
|
|
APPL1
|
[NCBI]
|
4.56496e-05
|
|
|
ZKSCAN1
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF132
|
[NCBI]
|
4.56496e-05
|
|
|
UPK3A
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF140
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF134
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF142
|
[NCBI]
|
4.56496e-05
|
|
|
ZNF137
|
[NCBI]
|
4.56496e-05
|
|
|
marden-walker syndrome
|
[NCBI]
|
4.55987e-05
|
|
|
ST8
|
[NCBI]
|
4.55987e-05
|
|
|
FHIT
|
[NCBI]
|
4.52226e-05
|
|
|
myopathy, spheroid body
|
[NCBI]
|
4.51801e-05
|
|
|
laurence-moon syndrome
|
[NCBI]
|
4.51801e-05
|
|
|
aneurysmal bone cysts
|
[NCBI]
|
4.51801e-05
|
|
|
hydrops fetalis, idiopathic
|
[NCBI]
|
4.51801e-05
|
|
|
muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
|
[NCBI]
|
4.51801e-05
|
|
|
brachydactyly-ectrodactyly with fibular aplasia or hypoplasia
|
[NCBI]
|
4.51801e-05
|
|
|
MCOPS5
|
[NCBI]
|
4.51801e-05
|
|
|
crisponi syndrome
|
[NCBI]
|
4.51801e-05
|
|
|
retinitis pigmentosa, late-adult onset
|
[NCBI]
|
4.51801e-05
|
|
|
hypouricemia, familial renal, due to tubular hypersecretion
|
[NCBI]
|
4.51801e-05
|
|
|
MCOP3
|
[NCBI]
|
4.51801e-05
|
|
|
ventricular tachycardia, familial
|
[NCBI]
|
4.51801e-05
|
|
|
fundus dystrophy, pseudoinflammatory, recessive form
|
[NCBI]
|
4.51801e-05
|
|
|
keratosis pilaris
|
[NCBI]
|
4.51801e-05
|
|
|
lowry-maclean syndrome
|
[NCBI]
|
4.51801e-05
|
|
|
mental retardation, x-linked, snyder-robinson type
|
[NCBI]
|
4.51801e-05
|
|
|
arthrogryposis and ectodermal dysplasia
|
[NCBI]
|
4.51801e-05
|
|
|
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
|
[NCBI]
|
4.51801e-05
|
|
|
tetramelic monodactyly
|
[NCBI]
|
4.51801e-05
|
|
|
syringomas, multiple
|
[NCBI]
|
4.51801e-05
|
|
|
fountain syndrome
|
[NCBI]
|
4.51801e-05
|
|
|
AT
|
[NCBI]
|
4.51306e-05
|
|
|
TRPS1
|
[NCBI]
|
4.4706e-05
|
|
|
SLSN1
|
[NCBI]
|
4.4706e-05
|
|
|
DAZ
|
[NCBI]
|
4.46163e-05
|
|
|
GSR
|
[NCBI]
|
4.40295e-05
|
|
|
GC
|
[NCBI]
|
4.40295e-05
|
|
|
thrombocythemia, essential
|
[NCBI]
|
4.34151e-05
|
|
|
JBS
|
[NCBI]
|
4.34151e-05
|
|
|
MKS1
|
[NCBI]
|
4.30805e-05
|
|
|
HOS
|
[NCBI]
|
4.24071e-05
|
|
|
MDD
|
[NCBI]
|
4.13088e-05
|
|
|
SSPN
|
[NCBI]
|
4.04734e-05
|
|
|
LIG1
|
[NCBI]
|
4.04734e-05
|
|
|
KCNC3
|
[NCBI]
|
4.04734e-05
|
|
|
CRELD1
|
[NCBI]
|
4.04734e-05
|
|
|
ZNF148
|
[NCBI]
|
4.04734e-05
|
|
|
UFD1L
|
[NCBI]
|
4.04734e-05
|
|
|
TMEM16E
|
[NCBI]
|
4.04734e-05
|
|
|
IGHG3
|
[NCBI]
|
4.04734e-05
|
|
|
UPK1B
|
[NCBI]
|
4.04734e-05
|
|
|
MECT1
|
[NCBI]
|
4.04734e-05
|
|
|
MAX
|
[NCBI]
|
4.04734e-05
|
|
|
cardiomyopathy-hypogonadism-collagenoma syndrome
|
[NCBI]
|
3.98231e-05
|
|
|
trigonocephaly, nonsyndromic
|
[NCBI]
|
3.98231e-05
|
|
|
LIS2
|
[NCBI]
|
3.98231e-05
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
3.98231e-05
|
|
|
pierre robin syndrome
|
[NCBI]
|
3.98231e-05
|
|
|
dermographism, familial
|
[NCBI]
|
3.98231e-05
|
|
|
persistent polyclonal b-cell lymphocytosis
|
[NCBI]
|
3.98231e-05
|
|
|
retinitis pigmentosa-deafness syndrome
|
[NCBI]
|
3.98231e-05
|
|
|
leigh syndrome, x-linked
|
[NCBI]
|
3.98231e-05
|
|
|
nevo syndrome
|
[NCBI]
|
3.98231e-05
|
|
|
epilepsy, reading
|
[NCBI]
|
3.98231e-05
|
|
|
SCA13
|
[NCBI]
|
3.98231e-05
|
|
|
thyroxine-binding globulin of serum
|
[NCBI]
|
3.98231e-05
|
|
|
factor x deficiency
|
[NCBI]
|
3.90176e-05
|
|
|
ETM1
|
[NCBI]
|
3.88186e-05
|
|
|
MTAP
|
[NCBI]
|
3.85856e-05
|
|
|
PDB
|
[NCBI]
|
3.77902e-05
|
|
|
central core disease of muscle
|
[NCBI]
|
3.77902e-05
|
|
|
CMT1A
|
[NCBI]
|
3.74797e-05
|
|
|
F2
|
[NCBI]
|
3.73496e-05
|
|
|
MLLT1
|
[NCBI]
|
3.71208e-05
|
|
|
AMY2A
|
[NCBI]
|
3.71208e-05
|
|
|
MLLT4
|
[NCBI]
|
3.71208e-05
|
|
|
MLLT3
|
[NCBI]
|
3.71208e-05
|
|
|
GOT1
|
[NCBI]
|
3.71208e-05
|
|
|
CUL2
|
[NCBI]
|
3.71208e-05
|
|
|
JK
|
[NCBI]
|
3.71208e-05
|
|
|
factor vii deficiency
|
[NCBI]
|
3.65713e-05
|
|
|
MCDR1
|
[NCBI]
|
3.60869e-05
|
|
|
polydactyly
|
[NCBI]
|
3.58785e-05
|
|
|
clubfoot
|
[NCBI]
|
3.58785e-05
|
|
|
ectrodactyly
|
[NCBI]
|
3.58785e-05
|
|
|
paroxysmal extreme pain disorder
|
[NCBI]
|
3.58785e-05
|
|
|
myelocerebellar disorder
|
[NCBI]
|
3.58785e-05
|
|
|
pulmonic stenosis
|
[NCBI]
|
3.58785e-05
|
|
|
robinow-sorauf syndrome
|
[NCBI]
|
3.58785e-05
|
|
|
NEM1
|
[NCBI]
|
3.58785e-05
|
|
|
corneal dystrophy and perceptive deafness
|
[NCBI]
|
3.58785e-05
|
|
|
MCOP2
|
[NCBI]
|
3.58785e-05
|
|
|
osteomesopyknosis
|
[NCBI]
|
3.58785e-05
|
|
|
KRS
|
[NCBI]
|
3.58785e-05
|
|
|
seizures, benign familial neonatal-infantile
|
[NCBI]
|
3.58785e-05
|
|
|
knuckle pads, leukonychia, and sensorineural deafness
|
[NCBI]
|
3.58785e-05
|
|
|
RP1
|
[NCBI]
|
3.58549e-05
|
|
|
MSS
|
[NCBI]
|
3.49426e-05
|
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i
|
[NCBI]
|
3.49426e-05
|
|
|
FMN
|
[NCBI]
|
3.46343e-05
|
|
|
TUBB
|
[NCBI]
|
3.46343e-05
|
|
|
PDGFA
|
[NCBI]
|
3.46343e-05
|
|
|
PAX3
|
[NCBI]
|
3.28213e-05
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
3.27658e-05
|
|
|
chromosome 18p deletion syndrome
|
[NCBI]
|
3.27658e-05
|
|
|
DFNB7
|
[NCBI]
|
3.27658e-05
|
|
|
oncocytoma
|
[NCBI]
|
3.27658e-05
|
|
|
HOMG2
|
[NCBI]
|
3.27658e-05
|
|
|
BDA2
|
[NCBI]
|
3.27658e-05
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
3.27658e-05
|
|
|
CNA2
|
[NCBI]
|
3.27658e-05
|
|
|
fumarase deficiency
|
[NCBI]
|
3.27658e-05
|
|
|
pelvis-shoulder dysplasia
|
[NCBI]
|
3.27658e-05
|
|
|
creatine phosphokinase, elevated serum
|
[NCBI]
|
3.27658e-05
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
3.27658e-05
|
|
|
pyogenic sterile arthritis, pyoderma gangrenosum, and acne
|
[NCBI]
|
3.27658e-05
|
|
|
pseudohermaphroditism, incomplete male, type i
|
[NCBI]
|
3.27658e-05
|
|
|
anemia, microcytic
|
[NCBI]
|
3.27658e-05
|
|
|
MLLT2
|
[NCBI]
|
3.26579e-05
|
|
|
TTDN1
|
[NCBI]
|
3.26579e-05
|
|
|
F7R
|
[NCBI]
|
3.26579e-05
|
|
|
ASPM
|
[NCBI]
|
3.26579e-05
|
|
|
SCA2
|
[NCBI]
|
3.22712e-05
|
|
|
TD1
|
[NCBI]
|
3.22712e-05
|
|
|
ZFPM2
|
[NCBI]
|
3.10186e-05
|
|
|
ANP32A
|
[NCBI]
|
3.10186e-05
|
|
|
HIRA
|
[NCBI]
|
3.10186e-05
|
|
|
CRLF1
|
[NCBI]
|
3.10186e-05
|
|
|
MLF1
|
[NCBI]
|
3.10186e-05
|
|
|
CCDC6
|
[NCBI]
|
3.10186e-05
|
|
|
TFG
|
[NCBI]
|
3.10186e-05
|
|
|
NGFB
|
[NCBI]
|
3.09644e-05
|
|
|
CHAC
|
[NCBI]
|
3.08493e-05
|
|
|
testicular tumors
|
[NCBI]
|
3.08493e-05
|
|
|
FIH
|
[NCBI]
|
3.08493e-05
|
|
|
CORD3
|
[NCBI]
|
3.02027e-05
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
3.02027e-05
|
|
|
TTDN1
|
[NCBI]
|
3.02027e-05
|
|
|
musical perfect pitch
|
[NCBI]
|
3.02027e-05
|
|
|
nasopharyngeal carcinoma
|
[NCBI]
|
3.02027e-05
|
|
|
SANDO
|
[NCBI]
|
3.02027e-05
|
|
|
platelet glycoprotein iv deficiency
|
[NCBI]
|
3.02027e-05
|
|
|
congenital disorder of glycosylation, type i/iix
|
[NCBI]
|
3.02027e-05
|
|
|
amme complex
|
[NCBI]
|
3.02027e-05
|
|
|
ichthyosiform erythroderma, corneal involvement, and deafness
|
[NCBI]
|
3.02027e-05
|
|
|
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
|
[NCBI]
|
3.02027e-05
|
|
|
IDDM
|
[NCBI]
|
2.96437e-05
|
|
|
FACL4
|
[NCBI]
|
2.96189e-05
|
|
|
EVI1
|
[NCBI]
|
2.96189e-05
|
|
|
CUTL1
|
[NCBI]
|
2.96189e-05
|
|
|
TTID
|
[NCBI]
|
2.96189e-05
|
|
|
TK1
|
[NCBI]
|
2.96189e-05
|
|
|
AHI1
|
[NCBI]
|
2.96189e-05
|
|
|
ALDOA
|
[NCBI]
|
2.96189e-05
|
|
|
AVSD
|
[NCBI]
|
2.95511e-05
|
|
|
EGF
|
[NCBI]
|
2.91954e-05
|
|
|
SPG3A
|
[NCBI]
|
2.87072e-05
|
|
|
BBS4
|
[NCBI]
|
2.83983e-05
|
|
|
SFRP4
|
[NCBI]
|
2.83983e-05
|
|
|
RHCE
|
[NCBI]
|
2.83983e-05
|
|
|
SACS
|
[NCBI]
|
2.83983e-05
|
|
|
IFNB1
|
[NCBI]
|
2.83983e-05
|
|
|
VHL
|
[NCBI]
|
2.82894e-05
|
|
|
cayler cardiofacial syndrome
|
[NCBI]
|
2.82406e-05
|
|
|
HDL2
|
[NCBI]
|
2.80303e-05
|
|
|
SCZD2
|
[NCBI]
|
2.80303e-05
|
|
|
pancreatic cancer, susceptibility to, 1
|
[NCBI]
|
2.80303e-05
|
|
|
BDE
|
[NCBI]
|
2.80303e-05
|
|
|
creatine deficiency syndrome, x-linked
|
[NCBI]
|
2.80303e-05
|
|
|
patterned dystrophy of retinal pigment epithelium
|
[NCBI]
|
2.80303e-05
|
|
|
TD2
|
[NCBI]
|
2.80303e-05
|
|
|
melorheostosis
|
[NCBI]
|
2.80303e-05
|
|
|
CPVT
|
[NCBI]
|
2.80303e-05
|
|
|
ODG2
|
[NCBI]
|
2.80303e-05
|
|
|
polydactyly, postaxial, type a1
|
[NCBI]
|
2.80303e-05
|
|
|
CSF1R
|
[NCBI]
|
2.73167e-05
|
|
|
MMP13
|
[NCBI]
|
2.73167e-05
|
|
|
FGD1
|
[NCBI]
|
2.73167e-05
|
|
|
COH1
|
[NCBI]
|
2.67577e-05
|
|
|
SGCG
|
[NCBI]
|
2.63462e-05
|
|
|
KCNA1
|
[NCBI]
|
2.63462e-05
|
|
|
SGCB
|
[NCBI]
|
2.63462e-05
|
|
|
APOH
|
[NCBI]
|
2.63462e-05
|
|
|
CDKN2B
|
[NCBI]
|
2.63462e-05
|
|
|
HOXA13
|
[NCBI]
|
2.63462e-05
|
|
|
TCF3
|
[NCBI]
|
2.63462e-05
|
|
|
LS
|
[NCBI]
|
2.63102e-05
|
|
|
ODG1
|
[NCBI]
|
2.61501e-05
|
|
|
OCA3
|
[NCBI]
|
2.61501e-05
|
|
|
EVR2
|
[NCBI]
|
2.61501e-05
|
|
|
HCA2
|
[NCBI]
|
2.61501e-05
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
2.61501e-05
|
|
|
atrial septal defect with atrioventricular conduction defects
|
[NCBI]
|
2.61501e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3
|
[NCBI]
|
2.61501e-05
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
2.61501e-05
|
|
|
VLDLRCH
|
[NCBI]
|
2.61501e-05
|
|
|
pyruvate dehydrogenase e3-binding protein deficiency
|
[NCBI]
|
2.61501e-05
|
|
|
acromesomelic dysplasia, hunter-thompson type
|
[NCBI]
|
2.61501e-05
|
|
|
porencephaly, familial
|
[NCBI]
|
2.61501e-05
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
2.61501e-05
|
|
|
AOII
|
[NCBI]
|
2.61501e-05
|
|
|
AIH2
|
[NCBI]
|
2.61501e-05
|
|
|
MPZ
|
[NCBI]
|
2.59115e-05
|
|
|
HLF
|
[NCBI]
|
2.54665e-05
|
|
|
SQSTM1
|
[NCBI]
|
2.54665e-05
|
|
|
RAI1
|
[NCBI]
|
2.54665e-05
|
|
|
diabetes mellitus, transient neonatal, 1
|
[NCBI]
|
2.48462e-05
|
|
|
TECTA
|
[NCBI]
|
2.46624e-05
|
|
|
PTTG1
|
[NCBI]
|
2.46624e-05
|
|
|
HBZ
|
[NCBI]
|
2.46624e-05
|
|
|
HMN2A
|
[NCBI]
|
2.44965e-05
|
|
|
ASMD
|
[NCBI]
|
2.44965e-05
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
2.44965e-05
|
|
|
HPP
|
[NCBI]
|
2.44965e-05
|
|
|
MCPH5
|
[NCBI]
|
2.44965e-05
|
|
|
LGMD2E
|
[NCBI]
|
2.44965e-05
|
|
|
floating-harbor syndrome
|
[NCBI]
|
2.44965e-05
|
|
|
aspermiogenesis factor
|
[NCBI]
|
2.44965e-05
|
|
|
GLYS1
|
[NCBI]
|
2.44965e-05
|
|
|
WT1
|
[NCBI]
|
2.44782e-05
|
|
|
NS1
|
[NCBI]
|
2.44782e-05
|
|
|
SCA6
|
[NCBI]
|
2.44128e-05
|
|
|
ETS1
|
[NCBI]
|
2.39222e-05
|
|
|
SCN9A
|
[NCBI]
|
2.39222e-05
|
|
|
TCL1A
|
[NCBI]
|
2.39222e-05
|
|
|
CDG1A
|
[NCBI]
|
2.33352e-05
|
|
|
BEST1
|
[NCBI]
|
2.32368e-05
|
|
|
SLC6A8
|
[NCBI]
|
2.32368e-05
|
|
|
MRE11A
|
[NCBI]
|
2.32368e-05
|
|
|
HPRT1
|
[NCBI]
|
2.316e-05
|
|
|
osteogenic sarcoma
|
[NCBI]
|
2.30241e-05
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
2.30241e-05
|
|
|
IRID1
|
[NCBI]
|
2.30241e-05
|
|
|
KCS
|
[NCBI]
|
2.30241e-05
|
|
|
hypoparathyroidism, sensorineural deafness, and renal disease
|
[NCBI]
|
2.30241e-05
|
|
|
epstein syndrome
|
[NCBI]
|
2.30241e-05
|
|
|
DA1
|
[NCBI]
|
2.30241e-05
|
|
|
SPG17
|
[NCBI]
|
2.30241e-05
|
|
|
ankyloblepharon-ectodermal defects-cleft lip/palate
|
[NCBI]
|
2.30241e-05
|
|
|
SCZD4
|
[NCBI]
|
2.30241e-05
|
|
|
SMA4
|
[NCBI]
|
2.30241e-05
|
|
|
MCOPS9
|
[NCBI]
|
2.30241e-05
|
|
|
IFD
|
[NCBI]
|
2.30241e-05
|
|
|
ROR2
|
[NCBI]
|
2.25988e-05
|
|
|
ERCC6
|
[NCBI]
|
2.25988e-05
|
|
|
GSTP1
|
[NCBI]
|
2.25988e-05
|
|
|
thyroid carcinoma, papillary
|
[NCBI]
|
2.2314e-05
|
|
|
orotic aciduria i
|
[NCBI]
|
2.20024e-05
|
|
|
DISC1
|
[NCBI]
|
2.20024e-05
|
|
|
diaphragmatic hernia, congenital
|
[NCBI]
|
2.17632e-05
|
|
|
FFS
|
[NCBI]
|
2.16997e-05
|
|
|
WS3
|
[NCBI]
|
2.16997e-05
|
|
|
myotonia congenita, autosomal recessive
|
[NCBI]
|
2.16997e-05
|
|
|
ISS
|
[NCBI]
|
2.16997e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
2.16997e-05
|
|
|
CMT4A
|
[NCBI]
|
2.16997e-05
|
|
|
lipomatosis, familial benign cervical
|
[NCBI]
|
2.16997e-05
|
|
|
IRID2
|
[NCBI]
|
2.16997e-05
|
|
|
ehlers-danlos syndrome, type ii
|
[NCBI]
|
2.16997e-05
|
|
|
FN1
|
[NCBI]
|
2.14425e-05
|
|
|
LIF
|
[NCBI]
|
2.14425e-05
|
|
|
GP1BA
|
[NCBI]
|
2.14425e-05
|
|
|
NR4A3
|
[NCBI]
|
2.14425e-05
|
|
|
NRAS
|
[NCBI]
|
2.14425e-05
|
|
|
THRA
|
[NCBI]
|
2.14425e-05
|
|
|
DM2
|
[NCBI]
|
2.13447e-05
|
|
|
galactosemia
|
[NCBI]
|
2.13447e-05
|
|
|
PKD1
|
[NCBI]
|
2.12712e-05
|
|
|
BCNS
|
[NCBI]
|
2.10672e-05
|
|
|
LPA
|
[NCBI]
|
2.09152e-05
|
|
|
C4B
|
[NCBI]
|
2.09152e-05
|
|
|
THC1
|
[NCBI]
|
2.04986e-05
|
|
|
cystathioninuria
|
[NCBI]
|
2.04986e-05
|
|
|
hyperprolinemia, type i
|
[NCBI]
|
2.04986e-05
|
|
|
BRIC1
|
[NCBI]
|
2.04986e-05
|
|
|
GINGF
|
[NCBI]
|
2.04986e-05
|
|
|
PBT
|
[NCBI]
|
2.04986e-05
|
|
|
EBS2
|
[NCBI]
|
2.04986e-05
|
|
|
LGMD1B
|
[NCBI]
|
2.04986e-05
|
|
|
SNDI
|
[NCBI]
|
2.04986e-05
|
|
|
hydrocephalus
|
[NCBI]
|
2.04986e-05
|
|
|
HNPP
|
[NCBI]
|
2.04235e-05
|
|
|
ALDH2
|
[NCBI]
|
2.0417e-05
|
|
|
EDN3
|
[NCBI]
|
2.0417e-05
|
|
|
DKC1
|
[NCBI]
|
2.0417e-05
|
|
|
FRAXE
|
[NCBI]
|
2.0417e-05
|
|
|
sotos syndrome
|
[NCBI]
|
1.99798e-05
|
|
|
CRYAB
|
[NCBI]
|
1.9945e-05
|
|
|
TCRA
|
[NCBI]
|
1.9945e-05
|
|
|
PEPD
|
[NCBI]
|
1.9945e-05
|
|
|
NOTCH1
|
[NCBI]
|
1.9945e-05
|
|
|
PTPN11
|
[NCBI]
|
1.94967e-05
|
|
|
HMGA2
|
[NCBI]
|
1.94967e-05
|
|
|
TBG
|
[NCBI]
|
1.94967e-05
|
|
|
CDA
|
[NCBI]
|
1.94018e-05
|
|
|
OPTA2
|
[NCBI]
|
1.94018e-05
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
1.94018e-05
|
|
|
SACS
|
[NCBI]
|
1.94018e-05
|
|
|
PC1
|
[NCBI]
|
1.94018e-05
|
|
|
ALUNC
|
[NCBI]
|
1.94018e-05
|
|
|
ACG2
|
[NCBI]
|
1.94018e-05
|
|
|
HHS
|
[NCBI]
|
1.94018e-05
|
|
|
potocki-shaffer syndrome
|
[NCBI]
|
1.94018e-05
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
1.94018e-05
|
|
|
MCOPS2
|
[NCBI]
|
1.94018e-05
|
|
|
PNDM
|
[NCBI]
|
1.94018e-05
|
|
|
PAX2
|
[NCBI]
|
1.90699e-05
|
|
|
PMS2
|
[NCBI]
|
1.90699e-05
|
|
|
LAMB3
|
[NCBI]
|
1.90699e-05
|
|
|
PLOD1
|
[NCBI]
|
1.90699e-05
|
|
|
HBFQTL2
|
[NCBI]
|
1.89657e-05
|
|
|
CHM
|
[NCBI]
|
1.86628e-05
|
|
|
FY
|
[NCBI]
|
1.86628e-05
|
|
|
GJB3
|
[NCBI]
|
1.86628e-05
|
|
|
TIMP3
|
[NCBI]
|
1.86628e-05
|
|
|
FRDA
|
[NCBI]
|
1.86091e-05
|
|
|
APRT
|
[NCBI]
|
1.85872e-05
|
|
|
OPD1
|
[NCBI]
|
1.83943e-05
|
|
|
feingold syndrome
|
[NCBI]
|
1.83943e-05
|
|
|
WGN1
|
[NCBI]
|
1.83943e-05
|
|
|
caffey disease
|
[NCBI]
|
1.83943e-05
|
|
|
cutis laxa, autosomal dominant
|
[NCBI]
|
1.83943e-05
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
1.83943e-05
|
|
|
PFM
|
[NCBI]
|
1.83943e-05
|
|
|
myxoma, intracardiac
|
[NCBI]
|
1.83943e-05
|
|
|
IHPS1
|
[NCBI]
|
1.83943e-05
|
|
|
HPE3
|
[NCBI]
|
1.83943e-05
|
|
|
pituitary dwarfism i
|
[NCBI]
|
1.83943e-05
|
|
|
DNMT3B
|
[NCBI]
|
1.82738e-05
|
|
|
IGHG1
|
[NCBI]
|
1.82738e-05
|
|
|
TP73L
|
[NCBI]
|
1.82738e-05
|
|
|
SCZD
|
[NCBI]
|
1.79148e-05
|
|
|
WS1
|
[NCBI]
|
1.79148e-05
|
|
|
PITX2
|
[NCBI]
|
1.79013e-05
|
|
|
SMPD1
|
[NCBI]
|
1.79013e-05
|
|
|
PARK6
|
[NCBI]
|
1.74641e-05
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
1.74641e-05
|
|
|
leiomyoma, hereditary multiple, of skin
|
[NCBI]
|
1.74641e-05
|
|
|
CDGG1
|
[NCBI]
|
1.74641e-05
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
1.74641e-05
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
1.74641e-05
|
|
|
EA1
|
[NCBI]
|
1.74641e-05
|
|
|
pitt syndrome
|
[NCBI]
|
1.74641e-05
|
|
|
xanthinuria, type i
|
[NCBI]
|
1.74641e-05
|
|
|
EPD
|
[NCBI]
|
1.74641e-05
|
|
|
marshall syndrome
|
[NCBI]
|
1.74641e-05
|
|
|
erythrocytosis, familial, 1
|
[NCBI]
|
1.74641e-05
|
|
|
DGI1
|
[NCBI]
|
1.74641e-05
|
|
|
renal tubular acidosis, distal, autosomal dominant
|
[NCBI]
|
1.74641e-05
|
|
|
CVID
|
[NCBI]
|
1.68714e-05
|
|
|
COL4A3
|
[NCBI]
|
1.68712e-05
|
|
|
NF2
|
[NCBI]
|
1.67866e-05
|
|
|
trichodentoosseous syndrome
|
[NCBI]
|
1.66017e-05
|
|
|
DMC
|
[NCBI]
|
1.66017e-05
|
|
|
hyperlipoproteinemia, type ii
|
[NCBI]
|
1.66017e-05
|
|
|
pseudoxanthoma elasticum, forme fruste
|
[NCBI]
|
1.66017e-05
|
|
|
hydatidiform mole
|
[NCBI]
|
1.66017e-05
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
1.66017e-05
|
|
|
EEC3
|
[NCBI]
|
1.66017e-05
|
|
|
MCOPS3
|
[NCBI]
|
1.66017e-05
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
1.66017e-05
|
|
|
PDGFB
|
[NCBI]
|
1.65536e-05
|
|
|
migraine with or without aura, susceptibility to, 1
|
[NCBI]
|
1.64308e-05
|
|
|
COL17A1
|
[NCBI]
|
1.62474e-05
|
|
|
GPC3
|
[NCBI]
|
1.62474e-05
|
|
|
PAEP
|
[NCBI]
|
1.5952e-05
|
|
|
GAMT
|
[NCBI]
|
1.5952e-05
|
|
|
fucosidosis
|
[NCBI]
|
1.5952e-05
|
|
|
PDE6B
|
[NCBI]
|
1.5952e-05
|
|
|
THC2
|
[NCBI]
|
1.57989e-05
|
|
|
seckel syndrome 1
|
[NCBI]
|
1.57989e-05
|
|
|
erythermalgia, primary
|
[NCBI]
|
1.57989e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
1.57989e-05
|
|
|
PPCD1
|
[NCBI]
|
1.57989e-05
|
|
|
DHRD
|
[NCBI]
|
1.57989e-05
|
|
|
MVA
|
[NCBI]
|
1.57989e-05
|
|
|
amyloidosis v
|
[NCBI]
|
1.57989e-05
|
|
|
cirrhosis, familial
|
[NCBI]
|
1.57989e-05
|
|
|
HSAN2
|
[NCBI]
|
1.57989e-05
|
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
[NCBI]
|
1.57989e-05
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
1.56665e-05
|
|
|
MTTK
|
[NCBI]
|
1.56665e-05
|
|
|
NR0B1
|
[NCBI]
|
1.53905e-05
|
|
|
GDXY
|
[NCBI]
|
1.53905e-05
|
|
|
EGFR
|
[NCBI]
|
1.53576e-05
|
|
|
PMP22
|
[NCBI]
|
1.51642e-05
|
|
|
DRD2
|
[NCBI]
|
1.51233e-05
|
|
|
GAA
|
[NCBI]
|
1.51233e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
1.47446e-05
|
|
|
ASPA
|
[NCBI]
|
1.46136e-05
|
|
|
SHOX
|
[NCBI]
|
1.46136e-05
|
|
|
PPT1
|
[NCBI]
|
1.43701e-05
|
|
|
PGK1
|
[NCBI]
|
1.43701e-05
|
|
|
buschke-ollendorff syndrome
|
[NCBI]
|
1.43471e-05
|
|
|
PLOSL
|
[NCBI]
|
1.43471e-05
|
|
|
asplenia with cardiovascular anomalies
|
[NCBI]
|
1.43471e-05
|
|
|
AIC
|
[NCBI]
|
1.41385e-05
|
|
|
POLG
|
[NCBI]
|
1.41337e-05
|
|
|
FANCA
|
[NCBI]
|
1.41337e-05
|
|
|
GIST
|
[NCBI]
|
1.4101e-05
|
|
|
amyloidosis vi
|
[NCBI]
|
1.4101e-05
|
|
|
ALB
|
[NCBI]
|
1.40076e-05
|
|
|
F13A1
|
[NCBI]
|
1.3904e-05
|
|
|
VCP
|
[NCBI]
|
1.3904e-05
|
|
|
MTATP6
|
[NCBI]
|
1.3904e-05
|
|
|
CMDD
|
[NCBI]
|
1.36876e-05
|
|
|
EBN1
|
[NCBI]
|
1.36876e-05
|
|
|
CBAVD
|
[NCBI]
|
1.36876e-05
|
|
|
masa syndrome
|
[NCBI]
|
1.36876e-05
|
|
|
HEPOD
|
[NCBI]
|
1.36876e-05
|
|
|
KTCN1
|
[NCBI]
|
1.36876e-05
|
|
|
ABCA4
|
[NCBI]
|
1.34635e-05
|
|
|
APC
|
[NCBI]
|
1.2812e-05
|
|
|
argininemia
|
[NCBI]
|
1.2481e-05
|
|
|
GABEB
|
[NCBI]
|
1.2481e-05
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
1.2481e-05
|
|
|
BHD
|
[NCBI]
|
1.2481e-05
|
|
|
EAOH
|
[NCBI]
|
1.2481e-05
|
|
|
BL
|
[NCBI]
|
1.2408e-05
|
|
|
FTD
|
[NCBI]
|
1.23158e-05
|
|
|
RP2
|
[NCBI]
|
1.22726e-05
|
|
|
THRB
|
[NCBI]
|
1.22726e-05
|
|
|
HRAS
|
[NCBI]
|
1.22726e-05
|
|
|
MAOA
|
[NCBI]
|
1.20907e-05
|
|
|
CMM2
|
[NCBI]
|
1.19273e-05
|
|
|
HSS
|
[NCBI]
|
1.19273e-05
|
|
|
HNA
|
[NCBI]
|
1.19273e-05
|
|
|
weaver syndrome
|
[NCBI]
|
1.19273e-05
|
|
|
UCMD
|
[NCBI]
|
1.19273e-05
|
|
|
pancreatic carcinoma
|
[NCBI]
|
1.19273e-05
|
|
|
BIRC1
|
[NCBI]
|
1.19131e-05
|
|
|
APOA1
|
[NCBI]
|
1.15698e-05
|
|
|
CMM
|
[NCBI]
|
1.15406e-05
|
|
|
EA2
|
[NCBI]
|
1.14031e-05
|
|
|
PFHB1A
|
[NCBI]
|
1.14031e-05
|
|
|
BGS
|
[NCBI]
|
1.14031e-05
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
1.14031e-05
|
|
|
ehlers-danlos syndrome, type vi
|
[NCBI]
|
1.14031e-05
|
|
|
RDT
|
[NCBI]
|
1.11147e-05
|
|
|
SVAS
|
[NCBI]
|
1.11147e-05
|
|
|
MLC
|
[NCBI]
|
1.09059e-05
|
|
|
VWM
|
[NCBI]
|
1.09059e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
1.09059e-05
|
|
|
TH
|
[NCBI]
|
1.07872e-05
|
|
|
phenylketonuria
|
[NCBI]
|
1.07625e-05
|
|
|
DRPLA
|
[NCBI]
|
1.06886e-05
|
|
|
CCD
|
[NCBI]
|
1.06359e-05
|
|
|
POF1
|
[NCBI]
|
1.04336e-05
|
|
|
histidinemia
|
[NCBI]
|
1.04336e-05
|
|
|
KAL2
|
[NCBI]
|
1.04336e-05
|
|
|
donohue syndrome
|
[NCBI]
|
1.04336e-05
|
|
|
epidermolysis bullosa with pyloric atresia
|
[NCBI]
|
1.04336e-05
|
|
|
OFD1
|
[NCBI]
|
9.98448e-06
|
|
|
hyperglycerolemia
|
[NCBI]
|
9.98448e-06
|
|
|
lecithin:cholesterol acyltransferase deficiency
|
[NCBI]
|
9.98448e-06
|
|
|
OPTB1
|
[NCBI]
|
9.98448e-06
|
|
|
polycythemia vera
|
[NCBI]
|
9.98448e-06
|
|
|
HS
|
[NCBI]
|
9.66049e-06
|
|
|
SOD1
|
[NCBI]
|
9.62288e-06
|
|
|
alzheimer disease 3
|
[NCBI]
|
9.55679e-06
|
|
|
PARK2
|
[NCBI]
|
9.40743e-06
|
|
|
AR
|
[NCBI]
|
9.19197e-06
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
9.16336e-06
|
|
|
CFNS
|
[NCBI]
|
9.14909e-06
|
|
|
ASS
|
[NCBI]
|
9.04454e-06
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
8.96507e-06
|
|
|
MKKS
|
[NCBI]
|
8.76003e-06
|
|
|
CHNG2
|
[NCBI]
|
8.76003e-06
|
|
|
faciogenital dysplasia
|
[NCBI]
|
8.76003e-06
|
|
|
BCGF
|
[NCBI]
|
8.76003e-06
|
|
|
RP3
|
[NCBI]
|
8.76003e-06
|
|
|
restless legs syndrome, susceptibility to, 1
|
[NCBI]
|
8.54629e-06
|
|
|
DHFR
|
[NCBI]
|
8.52537e-06
|
|
|
PI
|
[NCBI]
|
8.45449e-06
|
|
|
OPA1
|
[NCBI]
|
8.38841e-06
|
|
|
FHM1
|
[NCBI]
|
8.38841e-06
|
|
|
HSAS
|
[NCBI]
|
8.38841e-06
|
|
|
NGFR
|
[NCBI]
|
8.26733e-06
|
|
|
COL2A1
|
[NCBI]
|
8.26733e-06
|
|
|
RP
|
[NCBI]
|
8.17832e-06
|
|
|
MFS
|
[NCBI]
|
8.05931e-06
|
|
|
EPO
|
[NCBI]
|
8.0366e-06
|
|
|
pfeiffer syndrome
|
[NCBI]
|
8.03314e-06
|
|
|
PARK2
|
[NCBI]
|
8.03314e-06
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
8.03314e-06
|
|
|
MCOPS7
|
[NCBI]
|
8.03314e-06
|
|
|
SCDO1
|
[NCBI]
|
8.03314e-06
|
|
|
megaloblastic anemia 1
|
[NCBI]
|
8.03314e-06
|
|
|
MSD
|
[NCBI]
|
7.69323e-06
|
|
|
HNFJ
|
[NCBI]
|
7.69323e-06
|
|
|
SGBS1
|
[NCBI]
|
7.69323e-06
|
|
|
OCRL
|
[NCBI]
|
7.69323e-06
|
|
|
RASA1
|
[NCBI]
|
7.57372e-06
|
|
|
GJB1
|
[NCBI]
|
7.48063e-06
|
|
|
RSMD1
|
[NCBI]
|
7.36778e-06
|
|
|
HCH
|
[NCBI]
|
7.36778e-06
|
|
|
EPOR
|
[NCBI]
|
7.12187e-06
|
|
|
ACADM
|
[NCBI]
|
7.12187e-06
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
7.0624e-06
|
|
|
SMA3
|
[NCBI]
|
7.05596e-06
|
|
|
FCAS
|
[NCBI]
|
7.05596e-06
|
|
|
CMTX1
|
[NCBI]
|
7.05596e-06
|
|
|
MJD
|
[NCBI]
|
6.98733e-06
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
6.97991e-06
|
|
|
NPM1
|
[NCBI]
|
6.78344e-06
|
|
|
TBS
|
[NCBI]
|
6.75701e-06
|
|
|
RCDP1
|
[NCBI]
|
6.75701e-06
|
|
|
CDPX2
|
[NCBI]
|
6.75701e-06
|
|
|
LGMD2A
|
[NCBI]
|
6.75701e-06
|
|
|
apert syndrome
|
[NCBI]
|
6.75701e-06
|
|
|
myoclonic dystonia
|
[NCBI]
|
6.75701e-06
|
|
|
DFSP
|
[NCBI]
|
6.61397e-06
|
|
|
MYOC
|
[NCBI]
|
6.54192e-06
|
|
|
GLC1A
|
[NCBI]
|
6.47024e-06
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
6.47024e-06
|
|
|
MEB
|
[NCBI]
|
6.47024e-06
|
|
|
ehlers-danlos syndrome, type i
|
[NCBI]
|
6.47024e-06
|
|
|
RBS
|
[NCBI]
|
6.47024e-06
|
|
|
MBP
|
[NCBI]
|
6.26761e-06
|
|
|
OCA2
|
[NCBI]
|
6.195e-06
|
|
|
STL1
|
[NCBI]
|
6.195e-06
|
|
|
TTR
|
[NCBI]
|
6.04137e-06
|
|
|
CML
|
[NCBI]
|
5.9307e-06
|
|
|
CNC1
|
[NCBI]
|
5.9307e-06
|
|
|
NF1
|
[NCBI]
|
5.91003e-06
|
|
|
spermatogenic failure, nonobstructive, y-linked
|
[NCBI]
|
5.67681e-06
|
|
|
ATM
|
[NCBI]
|
5.60157e-06
|
|
|
CDKN2A
|
[NCBI]
|
5.34271e-06
|
|
|
HBB
|
[NCBI]
|
5.31604e-06
|
|
|
kabuki syndrome
|
[NCBI]
|
5.25146e-06
|
|
|
OFC1
|
[NCBI]
|
5.25146e-06
|
|
|
ATS
|
[NCBI]
|
5.19821e-06
|
|
|
PHS
|
[NCBI]
|
4.9726e-06
|
|
|
CMD1A
|
[NCBI]
|
4.9726e-06
|
|
|
meningioma, familial
|
[NCBI]
|
4.9726e-06
|
|
|
GCPS
|
[NCBI]
|
4.75556e-06
|
|
|
VMD
|
[NCBI]
|
4.75556e-06
|
|
|
HHF1
|
[NCBI]
|
4.75556e-06
|
|
|
HYPP
|
[NCBI]
|
4.75556e-06
|
|
|
XPA
|
[NCBI]
|
4.75556e-06
|
|
|
von willebrand disease
|
[NCBI]
|
4.6932e-06
|
|
|
BRCA2
|
[NCBI]
|
4.6932e-06
|
|
|
RET
|
[NCBI]
|
4.6383e-06
|
|
|
MBS
|
[NCBI]
|
4.59276e-06
|
|
|
CPI
|
[NCBI]
|
4.55084e-06
|
|
|
ACH
|
[NCBI]
|
4.5197e-06
|
|
|
IFNA1
|
[NCBI]
|
4.42498e-06
|
|
|
NEM3
|
[NCBI]
|
4.3457e-06
|
|
|
krabbe disease
|
[NCBI]
|
4.28651e-06
|
|
|
HBA1
|
[NCBI]
|
4.17182e-06
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
3.96587e-06
|
|
|
VHL
|
[NCBI]
|
3.6382e-06
|
|
|
AN2
|
[NCBI]
|
3.61363e-06
|
|
|
kartagener syndrome
|
[NCBI]
|
3.61363e-06
|
|
|
TYMS
|
[NCBI]
|
3.50409e-06
|
|
|
MODY
|
[NCBI]
|
3.47761e-06
|
|
|
apc gene
|
[NCBI]
|
3.40978e-06
|
|
|
DYT1
|
[NCBI]
|
3.28686e-06
|
|
|
OPMD
|
[NCBI]
|
3.15273e-06
|
|
|
CHM
|
[NCBI]
|
3.13241e-06
|
|
|
ED1
|
[NCBI]
|
3.13241e-06
|
|
|
GJB2
|
[NCBI]
|
3.02294e-06
|
|
|
MPO
|
[NCBI]
|
3.01078e-06
|
|
|
IP
|
[NCBI]
|
2.88371e-06
|
|
|
MTM1
|
[NCBI]
|
2.84031e-06
|
|
|
mucolipidosis ii
|
[NCBI]
|
2.84031e-06
|
|
|
CMT1B
|
[NCBI]
|
2.70226e-06
|
|
|
SCA7
|
[NCBI]
|
2.70226e-06
|
|
|
FCMD
|
[NCBI]
|
2.70226e-06
|
|
|
MUC1
|
[NCBI]
|
2.5912e-06
|
|
|
CCM
|
[NCBI]
|
2.56928e-06
|
|
|
AIS
|
[NCBI]
|
2.48182e-06
|
|
|
GFAP
|
[NCBI]
|
2.34658e-06
|
|
|
RCC1
|
[NCBI]
|
2.31789e-06
|
|
|
ALD
|
[NCBI]
|
2.10073e-06
|
|
|
VWS
|
[NCBI]
|
2.08483e-06
|
|
|
DMD
|
[NCBI]
|
2.0508e-06
|
|
|
ATD1
|
[NCBI]
|
1.98871e-06
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
1.86893e-06
|
|
|
ADA
|
[NCBI]
|
1.86276e-06
|
|
|
maple syrup urine disease
|
[NCBI]
|
1.76708e-06
|
|
|
BRCA1
|
[NCBI]
|
1.7499e-06
|
|
|
HFE
|
[NCBI]
|
1.68024e-06
|
|
|
INS
|
[NCBI]
|
1.65749e-06
|
|
|
CAT
|
[NCBI]
|
1.64117e-06
|
|
|
MTS
|
[NCBI]
|
1.57496e-06
|
|
|
TCOF
|
[NCBI]
|
1.57496e-06
|
|
|
TS
|
[NCBI]
|
1.57481e-06
|
|
|
ALK
|
[NCBI]
|
1.54717e-06
|
|
|
ND
|
[NCBI]
|
1.48446e-06
|
|
|
NPS
|
[NCBI]
|
1.39752e-06
|
|
|
ALGS1
|
[NCBI]
|
1.31403e-06
|
|
|
LQT1
|
[NCBI]
|
1.31403e-06
|
|
|
HPS
|
[NCBI]
|
1.19775e-06
|
|
|
LCAT
|
[NCBI]
|
1.15856e-06
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
1.15704e-06
|
|
|
KSS
|
[NCBI]
|
1.1521e-06
|
|
|
CMH
|
[NCBI]
|
1.10715e-06
|
|
|
PSACH
|
[NCBI]
|
1.01275e-06
|
|
|
HGPS
|
[NCBI]
|
8.80468e-07
|
|
|
porphyria variegata
|
[NCBI]
|
8.80468e-07
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
8.80468e-07
|
|
|
PCD
|
[NCBI]
|
8.37122e-07
|
|
|
breast cancer
|
[NCBI]
|
7.59576e-07
|
|
|
APOB
|
[NCBI]
|
7.42882e-07
|
|
|
WRN
|
[NCBI]
|
7.03216e-07
|
|
|
G6PD
|
[NCBI]
|
6.2685e-07
|
|
|
HSCR1
|
[NCBI]
|
5.23477e-07
|
|
|
hypogonadotropic hypogonadism
|
[NCBI]
|
4.5963e-07
|
|
|
polycystic kidneys
|
[NCBI]
|
4.04506e-07
|
|
|
PTHLH
|
[NCBI]
|
3.4004e-07
|
|
|
PPR
|
[NCBI]
|
3.19582e-07
|
|
|
BBS
|
[NCBI]
|
2.65075e-07
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
2.43667e-07
|
|
|
SDS
|
[NCBI]
|
2.15041e-07
|
|
|
JMML
|
[NCBI]
|
1.88396e-07
|
|
|
alopecia, androgenetic
|
[NCBI]
|
1.88396e-07
|
|
|
GAPDH
|
[NCBI]
|
1.50167e-07
|
|
|
DBA
|
[NCBI]
|
1.37138e-07
|
|
|
ACHE
|
[NCBI]
|
1.17147e-07
|
|
|
GNRH1
|
[NCBI]
|
1.01011e-07
|
|
|
WBS
|
[NCBI]
|
9.5269e-08
|
|
|
GTS
|
[NCBI]
|
8.06145e-08
|
|
|
PXE
|
[NCBI]
|
7.6637e-08
|
|
|
autism
|
[NCBI]
|
7.63445e-08
|
|
|
CFTR
|
[NCBI]
|
6.34451e-08
|
|
|
PF4
|
[NCBI]
|
5.92963e-08
|
|
|
COMT
|
[NCBI]
|
1.52143e-08
|
|
|
SLOS
|
[NCBI]
|
1.2675e-08
|
|
|
giant platelet syndrome
|
[NCBI]
|
1.57667e-09
|
|
|
APOE
|
[NCBI]
|
1.38582e-09
|
|