|
OMIM |
Link |
Information gain |
01 |
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.0087277
|
|
|
cayler cardiofacial syndrome
|
[NCBI]
|
0.00528072
|
|
|
TAPVR1
|
[NCBI]
|
0.00438161
|
|
|
HOS
|
[NCBI]
|
0.00315164
|
|
|
AOS
|
[NCBI]
|
0.00291919
|
|
|
DGS
|
[NCBI]
|
0.0024141
|
|
|
charge syndrome
|
[NCBI]
|
0.00166431
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.00162694
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
0.00147186
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.00143944
|
|
|
AVSD
|
[NCBI]
|
0.00143939
|
|
|
kabuki syndrome
|
[NCBI]
|
0.0012849
|
|
|
THAS
|
[NCBI]
|
0.00112488
|
|
|
CVD1
|
[NCBI]
|
0.000947799
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.000914845
|
|
|
asplenia with cardiovascular anomalies
|
[NCBI]
|
0.000859083
|
|
|
splenic hypoplasia
|
[NCBI]
|
0.000856598
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.000853316
|
|
|
TBX5
|
[NCBI]
|
0.000735527
|
|
|
heterotopia, periventricular, associated with chromosome 5p anomalies
|
[NCBI]
|
0.00068923
|
|
|
dystelephalangy
|
[NCBI]
|
0.00068923
|
|
|
triphalangeal thumb, nonopposable
|
[NCBI]
|
0.00068923
|
|
|
polycystic kidney disease, potter type i, with microbrachycephaly, hypertelorism, and brachymelia
|
[NCBI]
|
0.00068923
|
|
|
CTHM
|
[NCBI]
|
0.000667059
|
|
|
HFM
|
[NCBI]
|
0.000662143
|
|
|
NKX2E
|
[NCBI]
|
0.000615867
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.00060866
|
|
|
FRNS
|
[NCBI]
|
0.000590682
|
|
|
aortic valve disease
|
[NCBI]
|
0.000507638
|
|
|
MKKS
|
[NCBI]
|
0.00050747
|
|
|
CF
|
[NCBI]
|
0.00050361
|
|
|
lung agenesis
|
[NCBI]
|
0.000473236
|
|
|
burn-mckeown syndrome
|
[NCBI]
|
0.000473236
|
|
|
MGS
|
[NCBI]
|
0.000473236
|
|
|
oculootofacial dysplasia
|
[NCBI]
|
0.000473236
|
|
|
TARPS
|
[NCBI]
|
0.000473236
|
|
|
NS1
|
[NCBI]
|
0.000455088
|
|
|
HTX1
|
[NCBI]
|
0.000443015
|
|
|
GJA1
|
[NCBI]
|
0.000438006
|
|
|
GATA4
|
[NCBI]
|
0.000404167
|
|
|
axenfeld-rieger anomaly with cardiac defects and sensorineural hearing loss
|
[NCBI]
|
0.000392934
|
|
|
laterality defects, autosomal dominant
|
[NCBI]
|
0.000392934
|
|
|
ALGS1
|
[NCBI]
|
0.000362047
|
|
|
campomelia, cumming type
|
[NCBI]
|
0.000341476
|
|
|
heterotaxy, visceral, 3, autosomal
|
[NCBI]
|
0.000341476
|
|
|
hypertelorism, microtia, facial clefting syndrome
|
[NCBI]
|
0.000341476
|
|
|
PFHB2
|
[NCBI]
|
0.000341476
|
|
|
patent ductus arteriosus
|
[NCBI]
|
0.000341476
|
|
|
MCOPS2
|
[NCBI]
|
0.000338284
|
|
|
situs inversus viscerum
|
[NCBI]
|
0.000324817
|
|
|
NLS
|
[NCBI]
|
0.00031807
|
|
|
leopard syndrome 1
|
[NCBI]
|
0.000308647
|
|
|
WBS
|
[NCBI]
|
0.000308435
|
|
|
hemifacial microsomia with radial defects
|
[NCBI]
|
0.000303716
|
|
|
holzgreve syndrome
|
[NCBI]
|
0.000287729
|
|
|
LVNCX
|
[NCBI]
|
0.000287729
|
|
|
femur, unilateral bifid, with monodactylous ectrodactyly
|
[NCBI]
|
0.000274025
|
|
|
ARVD4
|
[NCBI]
|
0.000274025
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.000270485
|
|
|
MVP
|
[NCBI]
|
0.000254094
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
0.000249665
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.000249665
|
|
|
ASD1
|
[NCBI]
|
0.000249665
|
|
|
ZIC3
|
[NCBI]
|
0.000242852
|
|
|
heart block, congenital
|
[NCBI]
|
0.000234227
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
0.000229094
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.000229094
|
|
|
atrial septal defect with atrioventricular conduction defects
|
[NCBI]
|
0.000228475
|
|
|
catel-manzke syndrome
|
[NCBI]
|
0.000228475
|
|
|
EVC
|
[NCBI]
|
0.000224404
|
|
|
palatopharyngeal incompetence
|
[NCBI]
|
0.000218208
|
|
|
vater association
|
[NCBI]
|
0.000212021
|
|
|
charge-like syndrome, x-linked
|
[NCBI]
|
0.000209736
|
|
|
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
|
[NCBI]
|
0.000209736
|
|
|
CITED2
|
[NCBI]
|
0.000201794
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
0.000195819
|
|
|
PCA
|
[NCBI]
|
0.000195819
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.000195819
|
|
|
right ventricular hypoplasia, isolated
|
[NCBI]
|
0.000191753
|
|
|
subglottic bar
|
[NCBI]
|
0.000191753
|
|
|
LVNC1
|
[NCBI]
|
0.000191753
|
|
|
JARID2
|
[NCBI]
|
0.000186889
|
|
|
tetralogy of fallot
|
[NCBI]
|
0.000183566
|
|
|
young-simpson syndrome
|
[NCBI]
|
0.000169016
|
|
|
polysyndactyly with cardiac malformation
|
[NCBI]
|
0.000164036
|
|
|
meacham syndrome
|
[NCBI]
|
0.000164036
|
|
|
ASD2
|
[NCBI]
|
0.000164036
|
|
|
mcdonough syndrome
|
[NCBI]
|
0.000164036
|
|
|
heart, malformation of
|
[NCBI]
|
0.000164036
|
|
|
cleft palate, cardiac defect, genital anomalies, and ectrodactyly
|
[NCBI]
|
0.000164036
|
|
|
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease
|
[NCBI]
|
0.000164036
|
|
|
faciocardiorenal syndrome
|
[NCBI]
|
0.000164036
|
|
|
phace association
|
[NCBI]
|
0.000160816
|
|
|
NODAL
|
[NCBI]
|
0.000153476
|
|
|
down syndrome
|
[NCBI]
|
0.000153052
|
|
|
SVAS
|
[NCBI]
|
0.000151154
|
|
|
mohr syndrome
|
[NCBI]
|
0.000148407
|
|
|
OSCS
|
[NCBI]
|
0.000148407
|
|
|
AMCN
|
[NCBI]
|
0.000148407
|
|
|
constricting bands, congenital
|
[NCBI]
|
0.000148407
|
|
|
CES
|
[NCBI]
|
0.000148288
|
|
|
CHD7
|
[NCBI]
|
0.000145603
|
|
|
costello syndrome
|
[NCBI]
|
0.00014528
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
0.000142434
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
0.000134372
|
|
|
ECE1
|
[NCBI]
|
0.000134372
|
|
|
DTGA1
|
[NCBI]
|
0.000133184
|
|
|
lowry-maclean syndrome
|
[NCBI]
|
0.000133184
|
|
|
cardiogenital syndrome
|
[NCBI]
|
0.000133184
|
|
|
genitopalatocardiac syndrome
|
[NCBI]
|
0.000133184
|
|
|
hypoplastic left heart syndrome
|
[NCBI]
|
0.000133184
|
|
|
JAG1
|
[NCBI]
|
0.000131262
|
|
|
ACC
|
[NCBI]
|
0.000122751
|
|
|
tricuspid atresia
|
[NCBI]
|
0.000119297
|
|
|
coarctation of aorta
|
[NCBI]
|
0.000119297
|
|
|
JLNS1
|
[NCBI]
|
0.000110798
|
|
|
SEMA3E
|
[NCBI]
|
0.000105593
|
|
|
CLTCL1
|
[NCBI]
|
0.000105593
|
|
|
phenylketonuria
|
[NCBI]
|
0.000103163
|
|
|
isotretinoin embryopathy-like syndrome
|
[NCBI]
|
0.000102538
|
|
|
sotos syndrome
|
[NCBI]
|
9.99353e-05
|
|
|
PFHB1A
|
[NCBI]
|
9.96582e-05
|
|
|
EDN1
|
[NCBI]
|
9.8734e-05
|
|
|
BCOR
|
[NCBI]
|
9.70329e-05
|
|
|
PITX2
|
[NCBI]
|
9.48894e-05
|
|
|
SLOS
|
[NCBI]
|
9.31129e-05
|
|
|
EVC
|
[NCBI]
|
9.11622e-05
|
|
|
NOTCH2
|
[NCBI]
|
9.11622e-05
|
|
|
ACVR2B
|
[NCBI]
|
9.11622e-05
|
|
|
OKS
|
[NCBI]
|
9.07809e-05
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
8.74755e-05
|
|
|
DGCR14
|
[NCBI]
|
8.66677e-05
|
|
|
SGBS1
|
[NCBI]
|
8.48003e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
8.37421e-05
|
|
|
RXRA
|
[NCBI]
|
8.30204e-05
|
|
|
PPARBP
|
[NCBI]
|
8.30204e-05
|
|
|
LAMB1
|
[NCBI]
|
8.30204e-05
|
|
|
progeroid facial appearance with hand anomalies
|
[NCBI]
|
8.20036e-05
|
|
|
mesoaxial hexadactyly and cardiac malformation
|
[NCBI]
|
8.20036e-05
|
|
|
ASD4
|
[NCBI]
|
8.20036e-05
|
|
|
multiple congenital anomalies syndrome with cloverleaf skull
|
[NCBI]
|
8.20036e-05
|
|
|
growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia
|
[NCBI]
|
8.20036e-05
|
|
|
distichiasis with congenital anomalies of the heart and peripheral vasculature
|
[NCBI]
|
8.20036e-05
|
|
|
facial dysmorphism with multiple malformations
|
[NCBI]
|
8.20036e-05
|
|
|
MCOPCT2
|
[NCBI]
|
8.20036e-05
|
|
|
cantu syndrome
|
[NCBI]
|
8.20036e-05
|
|
|
kapur-toriello syndrome
|
[NCBI]
|
8.20036e-05
|
|
|
polydactyly, postaxial, with dental and vertebral anomalies
|
[NCBI]
|
8.20036e-05
|
|
|
fallot complex with severe mental and growth retardation
|
[NCBI]
|
8.20036e-05
|
|
|
pulmonic stenosis and deafness
|
[NCBI]
|
8.20036e-05
|
|
|
phaver syndrome
|
[NCBI]
|
8.20036e-05
|
|
|
median-ulnar nerve communications
|
[NCBI]
|
8.20036e-05
|
|
|
cardioauditory syndrome of sanchez cascos
|
[NCBI]
|
8.20036e-05
|
|
|
trisomy 18-like syndrome
|
[NCBI]
|
8.20036e-05
|
|
|
hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly
|
[NCBI]
|
8.20036e-05
|
|
|
cardioskeletal syndrome, kuwaiti type
|
[NCBI]
|
8.20036e-05
|
|
|
amastia, bilateral, with ureteral triplication and dysmorphism
|
[NCBI]
|
8.20036e-05
|
|
|
sonoda syndrome
|
[NCBI]
|
8.20036e-05
|
|
|
hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect
|
[NCBI]
|
8.20036e-05
|
|
|
pulmonary atresia with intact ventricular septum
|
[NCBI]
|
8.20036e-05
|
|
|
acrocephalopolysyndactyly type iii
|
[NCBI]
|
8.20036e-05
|
|
|
microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs
|
[NCBI]
|
8.20036e-05
|
|
|
dubowitz syndrome
|
[NCBI]
|
8.09277e-05
|
|
|
TBS
|
[NCBI]
|
8.08124e-05
|
|
|
MKKS
|
[NCBI]
|
7.72978e-05
|
|
|
TBX3
|
[NCBI]
|
7.72978e-05
|
|
|
COMT
|
[NCBI]
|
7.55925e-05
|
|
|
ID2
|
[NCBI]
|
7.4964e-05
|
|
|
PHS
|
[NCBI]
|
7.27761e-05
|
|
|
c syndrome
|
[NCBI]
|
6.98933e-05
|
|
|
JBTS1
|
[NCBI]
|
6.79486e-05
|
|
|
GJA5
|
[NCBI]
|
6.77071e-05
|
|
|
KCNJ2
|
[NCBI]
|
6.77071e-05
|
|
|
MTR
|
[NCBI]
|
6.72048e-05
|
|
|
AHR
|
[NCBI]
|
6.37901e-05
|
|
|
TBX1
|
[NCBI]
|
6.36288e-05
|
|
|
FKBP1A
|
[NCBI]
|
6.22604e-05
|
|
|
CLDN5
|
[NCBI]
|
6.22604e-05
|
|
|
DVL2
|
[NCBI]
|
6.22604e-05
|
|
|
WWTR1
|
[NCBI]
|
6.22604e-05
|
|
|
THRAP2
|
[NCBI]
|
6.22604e-05
|
|
|
COL13A1
|
[NCBI]
|
6.22604e-05
|
|
|
npl4, s. cerevisiae, homolog of
|
[NCBI]
|
6.22604e-05
|
|
|
HAND2
|
[NCBI]
|
6.22604e-05
|
|
|
CECR1
|
[NCBI]
|
6.22604e-05
|
|
|
MRPL40
|
[NCBI]
|
6.22604e-05
|
|
|
brg1-associated factor, 180-kd
|
[NCBI]
|
6.22604e-05
|
|
|
ARVCF
|
[NCBI]
|
6.22604e-05
|
|
|
SMYD1
|
[NCBI]
|
6.22604e-05
|
|
|
UMS
|
[NCBI]
|
6.04952e-05
|
|
|
SHH
|
[NCBI]
|
6.02978e-05
|
|
|
arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly
|
[NCBI]
|
5.96342e-05
|
|
|
frontoocular syndrome
|
[NCBI]
|
5.96342e-05
|
|
|
ALGS2
|
[NCBI]
|
5.96342e-05
|
|
|
tibia, absence of, with polydactyly
|
[NCBI]
|
5.96342e-05
|
|
|
pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease
|
[NCBI]
|
5.96342e-05
|
|
|
noonan syndrome 3
|
[NCBI]
|
5.96342e-05
|
|
|
aortic arch interruption, facial palsy, and retinal coloboma
|
[NCBI]
|
5.96342e-05
|
|
|
hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation
|
[NCBI]
|
5.96342e-05
|
|
|
ectrodactyly of lower limbs, congenital heart defect, and micrognathia
|
[NCBI]
|
5.96342e-05
|
|
|
stratton-parker syndrome
|
[NCBI]
|
5.96342e-05
|
|
|
PTPN11
|
[NCBI]
|
5.83112e-05
|
|
|
MNS
|
[NCBI]
|
5.60476e-05
|
|
|
BBS
|
[NCBI]
|
5.23839e-05
|
|
|
tracheobronchial stenosis, congenital
|
[NCBI]
|
5.12553e-05
|
|
|
craniofacial dyssynostosis with short stature
|
[NCBI]
|
5.12553e-05
|
|
|
cree mental retardation syndrome
|
[NCBI]
|
5.12553e-05
|
|
|
agonadism with multiple internal malformations
|
[NCBI]
|
5.12553e-05
|
|
|
spondylocostal dysostosis with anal atresia and urogenital anomalies
|
[NCBI]
|
5.12553e-05
|
|
|
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
|
[NCBI]
|
5.12553e-05
|
|
|
neural tube defects
|
[NCBI]
|
5.10407e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
4.88431e-05
|
|
|
MAP2K2
|
[NCBI]
|
4.84985e-05
|
|
|
KCNE1L
|
[NCBI]
|
4.84985e-05
|
|
|
ATE1
|
[NCBI]
|
4.84985e-05
|
|
|
PLXND1
|
[NCBI]
|
4.84985e-05
|
|
|
IL17RA
|
[NCBI]
|
4.84985e-05
|
|
|
CRMP1
|
[NCBI]
|
4.84985e-05
|
|
|
MKL2
|
[NCBI]
|
4.84985e-05
|
|
|
CECR2
|
[NCBI]
|
4.84985e-05
|
|
|
BMP10
|
[NCBI]
|
4.84985e-05
|
|
|
SMARCD3
|
[NCBI]
|
4.84985e-05
|
|
|
IRX4
|
[NCBI]
|
4.84985e-05
|
|
|
GDF1
|
[NCBI]
|
4.84985e-05
|
|
|
SLC25A18
|
[NCBI]
|
4.84985e-05
|
|
|
ROR1
|
[NCBI]
|
4.84985e-05
|
|
|
GNA11
|
[NCBI]
|
4.84985e-05
|
|
|
TBX20
|
[NCBI]
|
4.84985e-05
|
|
|
NPPA
|
[NCBI]
|
4.7476e-05
|
|
|
BRAF
|
[NCBI]
|
4.68356e-05
|
|
|
CAMT
|
[NCBI]
|
4.58502e-05
|
|
|
gonadal agenesis
|
[NCBI]
|
4.58502e-05
|
|
|
humerospinal dysostosis
|
[NCBI]
|
4.58502e-05
|
|
|
craniosynostosis with ectopia lentis
|
[NCBI]
|
4.58502e-05
|
|
|
MCOPS8
|
[NCBI]
|
4.58502e-05
|
|
|
tetra-amelia, autosomal recessive
|
[NCBI]
|
4.58502e-05
|
|
|
PTH
|
[NCBI]
|
4.41208e-05
|
|
|
CMH
|
[NCBI]
|
4.35461e-05
|
|
|
SLC25A1
|
[NCBI]
|
4.3316e-05
|
|
|
TEAD1
|
[NCBI]
|
4.3316e-05
|
|
|
DSCAM
|
[NCBI]
|
4.3316e-05
|
|
|
CASP7
|
[NCBI]
|
4.3316e-05
|
|
|
STRA6
|
[NCBI]
|
4.3316e-05
|
|
|
HTR2B
|
[NCBI]
|
4.3316e-05
|
|
|
SEMA3C
|
[NCBI]
|
4.3316e-05
|
|
|
LETM1
|
[NCBI]
|
4.3316e-05
|
|
|
UFD1L
|
[NCBI]
|
4.3316e-05
|
|
|
ODDD
|
[NCBI]
|
4.23277e-05
|
|
|
DFNA10
|
[NCBI]
|
4.18575e-05
|
|
|
AVSD2
|
[NCBI]
|
4.18575e-05
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
4.18575e-05
|
|
|
pulmonic stenosis
|
[NCBI]
|
4.18575e-05
|
|
|
hemangiomas, cavernous, of face and supraumbilical midline raphe
|
[NCBI]
|
4.18575e-05
|
|
|
aprosencephaly syndrome
|
[NCBI]
|
4.18575e-05
|
|
|
malpuech facial clefting syndrome
|
[NCBI]
|
4.18575e-05
|
|
|
CDC45L
|
[NCBI]
|
3.99571e-05
|
|
|
SHOX2
|
[NCBI]
|
3.99571e-05
|
|
|
GATA6
|
[NCBI]
|
3.99571e-05
|
|
|
ISL1
|
[NCBI]
|
3.99571e-05
|
|
|
PEPC
|
[NCBI]
|
3.99571e-05
|
|
|
PPP1R13L
|
[NCBI]
|
3.99571e-05
|
|
|
GP1BB
|
[NCBI]
|
3.99571e-05
|
|
|
VEGFB
|
[NCBI]
|
3.99571e-05
|
|
|
cleft larynx, posterior
|
[NCBI]
|
3.86967e-05
|
|
|
weyers acrofacial dysostosis
|
[NCBI]
|
3.86967e-05
|
|
|
zunich neuroectodermal syndrome
|
[NCBI]
|
3.86967e-05
|
|
|
cardiomyopathy, infantile histiocytoid
|
[NCBI]
|
3.86967e-05
|
|
|
ELN
|
[NCBI]
|
3.84835e-05
|
|
|
SEPT5
|
[NCBI]
|
3.74643e-05
|
|
|
NCOA6
|
[NCBI]
|
3.74643e-05
|
|
|
pseudodiastrophic dysplasia
|
[NCBI]
|
3.60855e-05
|
|
|
ebstein anomaly
|
[NCBI]
|
3.60855e-05
|
|
|
chromosome 16p13.3 deletion syndrome
|
[NCBI]
|
3.60855e-05
|
|
|
carpenter syndrome
|
[NCBI]
|
3.60855e-05
|
|
|
ID1
|
[NCBI]
|
3.54816e-05
|
|
|
NTF3
|
[NCBI]
|
3.54816e-05
|
|
|
JUNB
|
[NCBI]
|
3.54816e-05
|
|
|
SNAI1
|
[NCBI]
|
3.54816e-05
|
|
|
XBP1
|
[NCBI]
|
3.54816e-05
|
|
|
CMTC
|
[NCBI]
|
3.52091e-05
|
|
|
SRF
|
[NCBI]
|
3.42624e-05
|
|
|
vacterl association with hydrocephalus
|
[NCBI]
|
3.3865e-05
|
|
|
TD2
|
[NCBI]
|
3.3865e-05
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
3.3865e-05
|
|
|
frontonasal dysplasia
|
[NCBI]
|
3.3865e-05
|
|
|
cardiac conduction defect
|
[NCBI]
|
3.3865e-05
|
|
|
JUP
|
[NCBI]
|
3.3836e-05
|
|
|
SLN
|
[NCBI]
|
3.3836e-05
|
|
|
VANGL2
|
[NCBI]
|
3.3836e-05
|
|
|
BCAR1
|
[NCBI]
|
3.3836e-05
|
|
|
ZFPM2
|
[NCBI]
|
3.3836e-05
|
|
|
FANCB
|
[NCBI]
|
3.3836e-05
|
|
|
NPPB
|
[NCBI]
|
3.3836e-05
|
|
|
VCAM1
|
[NCBI]
|
3.24299e-05
|
|
|
MAP2K1
|
[NCBI]
|
3.24299e-05
|
|
|
GNAQ
|
[NCBI]
|
3.24299e-05
|
|
|
IGF2R
|
[NCBI]
|
3.24299e-05
|
|
|
ID3
|
[NCBI]
|
3.24299e-05
|
|
|
GP9
|
[NCBI]
|
3.24299e-05
|
|
|
emanuel syndrome
|
[NCBI]
|
3.19366e-05
|
|
|
naxos disease
|
[NCBI]
|
3.19366e-05
|
|
|
vacterl association with hydrocephalus, x-linked
|
[NCBI]
|
3.19366e-05
|
|
|
CDLS1
|
[NCBI]
|
3.16636e-05
|
|
|
CASP3
|
[NCBI]
|
3.1203e-05
|
|
|
DSCR1
|
[NCBI]
|
3.1203e-05
|
|
|
PAX1
|
[NCBI]
|
3.1203e-05
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
3.08327e-05
|
|
|
ZS
|
[NCBI]
|
3.07256e-05
|
|
|
opitz syndrome
|
[NCBI]
|
3.0235e-05
|
|
|
por deficiency
|
[NCBI]
|
3.0235e-05
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
3.0235e-05
|
|
|
DBA
|
[NCBI]
|
3.01176e-05
|
|
|
DNAH11
|
[NCBI]
|
3.01151e-05
|
|
|
POR
|
[NCBI]
|
3.01151e-05
|
|
|
HOXA13
|
[NCBI]
|
2.91383e-05
|
|
|
DWS
|
[NCBI]
|
2.8876e-05
|
|
|
shprintzen-goldberg craniosynostosis syndrome
|
[NCBI]
|
2.87144e-05
|
|
|
SCZD4
|
[NCBI]
|
2.87144e-05
|
|
|
noonan-like/multiple giant cell lesion syndrome
|
[NCBI]
|
2.87144e-05
|
|
|
PDV
|
[NCBI]
|
2.87144e-05
|
|
|
MCOPS9
|
[NCBI]
|
2.87144e-05
|
|
|
SALL1
|
[NCBI]
|
2.82523e-05
|
|
|
MKS1
|
[NCBI]
|
2.78696e-05
|
|
|
ADAM17
|
[NCBI]
|
2.74419e-05
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
2.7342e-05
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
2.7342e-05
|
|
|
RSTS
|
[NCBI]
|
2.69949e-05
|
|
|
HDAC2
|
[NCBI]
|
2.66954e-05
|
|
|
PDGFRB
|
[NCBI]
|
2.66954e-05
|
|
|
FRA16A
|
[NCBI]
|
2.60928e-05
|
|
|
LDS
|
[NCBI]
|
2.60928e-05
|
|
|
multiple pterygium syndrome, lethal type
|
[NCBI]
|
2.60928e-05
|
|
|
RENS1
|
[NCBI]
|
2.60928e-05
|
|
|
PDGFRA
|
[NCBI]
|
2.60036e-05
|
|
|
PRODH
|
[NCBI]
|
2.60036e-05
|
|
|
ZEB2
|
[NCBI]
|
2.60036e-05
|
|
|
SALL4
|
[NCBI]
|
2.53593e-05
|
|
|
ROR2
|
[NCBI]
|
2.53593e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
2.53593e-05
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
2.49478e-05
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
2.49478e-05
|
|
|
PQBP1
|
[NCBI]
|
2.47566e-05
|
|
|
PCNA
|
[NCBI]
|
2.43541e-05
|
|
|
TAZ
|
[NCBI]
|
2.41904e-05
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
2.38922e-05
|
|
|
LQT1
|
[NCBI]
|
2.38244e-05
|
|
|
NOTCH1
|
[NCBI]
|
2.2674e-05
|
|
|
OPPG
|
[NCBI]
|
2.20034e-05
|
|
|
EGF
|
[NCBI]
|
2.19332e-05
|
|
|
TERC
|
[NCBI]
|
2.17863e-05
|
|
|
COL6A1
|
[NCBI]
|
2.13728e-05
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
2.11525e-05
|
|
|
ADM
|
[NCBI]
|
2.07663e-05
|
|
|
TGFBR2
|
[NCBI]
|
2.05986e-05
|
|
|
SMMCI
|
[NCBI]
|
2.03547e-05
|
|
|
JBS
|
[NCBI]
|
2.03547e-05
|
|
|
ICAM1
|
[NCBI]
|
2.02351e-05
|
|
|
RYR2
|
[NCBI]
|
1.98858e-05
|
|
|
BTC
|
[NCBI]
|
1.98858e-05
|
|
|
ARX
|
[NCBI]
|
1.95496e-05
|
|
|
PLN
|
[NCBI]
|
1.92257e-05
|
|
|
HRG
|
[NCBI]
|
1.86114e-05
|
|
|
BMP4
|
[NCBI]
|
1.86114e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
1.82279e-05
|
|
|
brugada syndrome 1
|
[NCBI]
|
1.82279e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
1.82279e-05
|
|
|
FGF8
|
[NCBI]
|
1.80373e-05
|
|
|
GSR
|
[NCBI]
|
1.80373e-05
|
|
|
ERBB2
|
[NCBI]
|
1.80373e-05
|
|
|
GACI
|
[NCBI]
|
1.7594e-05
|
|
|
TNF
|
[NCBI]
|
1.75164e-05
|
|
|
DES
|
[NCBI]
|
1.74987e-05
|
|
|
WHS
|
[NCBI]
|
1.73757e-05
|
|
|
CTNNB1
|
[NCBI]
|
1.72414e-05
|
|
|
FLNA
|
[NCBI]
|
1.72414e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
1.72414e-05
|
|
|
HSS
|
[NCBI]
|
1.69923e-05
|
|
|
HDAC1
|
[NCBI]
|
1.6513e-05
|
|
|
BGS
|
[NCBI]
|
1.64199e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
1.58746e-05
|
|
|
donohue syndrome
|
[NCBI]
|
1.53542e-05
|
|
|
KAL2
|
[NCBI]
|
1.53542e-05
|
|
|
sudden infant death syndrome
|
[NCBI]
|
1.53542e-05
|
|
|
MLL
|
[NCBI]
|
1.4831e-05
|
|
|
LCN2
|
[NCBI]
|
1.46428e-05
|
|
|
APOE
|
[NCBI]
|
1.41744e-05
|
|
|
ABS
|
[NCBI]
|
1.39253e-05
|
|
|
WT1
|
[NCBI]
|
1.3762e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
1.34882e-05
|
|
|
LCA1
|
[NCBI]
|
1.34882e-05
|
|
|
CPI
|
[NCBI]
|
1.34614e-05
|
|
|
PKD2
|
[NCBI]
|
1.3435e-05
|
|
|
PWS
|
[NCBI]
|
1.29367e-05
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
1.28284e-05
|
|
|
KRAS
|
[NCBI]
|
1.26722e-05
|
|
|
LGMD2C
|
[NCBI]
|
1.2665e-05
|
|
|
SCDO1
|
[NCBI]
|
1.2665e-05
|
|
|
EFE
|
[NCBI]
|
1.2665e-05
|
|
|
MSD
|
[NCBI]
|
1.2277e-05
|
|
|
LBP
|
[NCBI]
|
1.19775e-05
|
|
|
MTHFR
|
[NCBI]
|
1.18458e-05
|
|
|
apert syndrome
|
[NCBI]
|
1.11964e-05
|
|
|
RBS
|
[NCBI]
|
1.08615e-05
|
|
|
OFC1
|
[NCBI]
|
1.0792e-05
|
|
|
MTTL1
|
[NCBI]
|
1.02116e-05
|
|
|
SMN1
|
[NCBI]
|
1.01078e-05
|
|
|
COH1
|
[NCBI]
|
9.34891e-06
|
|
|
BTHS
|
[NCBI]
|
9.07518e-06
|
|
|
PGL1
|
[NCBI]
|
9.07518e-06
|
|
|
TNC
|
[NCBI]
|
8.96953e-06
|
|
|
NPY
|
[NCBI]
|
8.89477e-06
|
|
|
WFS1
|
[NCBI]
|
8.55304e-06
|
|
|
PF4
|
[NCBI]
|
8.54228e-06
|
|
|
KDR
|
[NCBI]
|
7.99642e-06
|
|
|
homocystinuria
|
[NCBI]
|
7.8476e-06
|
|
|
MPO
|
[NCBI]
|
7.8366e-06
|
|
|
CDG1A
|
[NCBI]
|
7.82783e-06
|
|
|
FBN1
|
[NCBI]
|
7.7745e-06
|
|
|
RET
|
[NCBI]
|
6.71009e-06
|
|
|
PDCD8
|
[NCBI]
|
5.65808e-06
|
|
|
ARPKD
|
[NCBI]
|
5.48356e-06
|
|
|
VWS
|
[NCBI]
|
5.32111e-06
|
|
|
PCD
|
[NCBI]
|
5.10052e-06
|
|
|
LPL
|
[NCBI]
|
4.59384e-06
|
|
|
AVP
|
[NCBI]
|
3.15535e-06
|
|
|
TG
|
[NCBI]
|
3.06485e-06
|
|
|
F3
|
[NCBI]
|
2.78223e-06
|
|
|
RB1
|
[NCBI]
|
2.64414e-06
|
|
|
BCR
|
[NCBI]
|
2.64414e-06
|
|
|
G6PD
|
[NCBI]
|
2.62595e-06
|
|
|
MFS
|
[NCBI]
|
2.14051e-06
|
|
|
ACE
|
[NCBI]
|
1.67563e-06
|
|
|
ADA
|
[NCBI]
|
1.11747e-06
|
|
|
NF1
|
[NCBI]
|
9.6587e-07
|
|
|
fabry disease
|
[NCBI]
|
5.79615e-07
|
|
|
ALB
|
[NCBI]
|
5.08955e-07
|
|
|
TFPI
|
[NCBI]
|
3.27417e-07
|
|
|
AFP
|
[NCBI]
|
3.27385e-07
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
3.01687e-07
|
|
|
CHAT
|
[NCBI]
|
1.8734e-07
|
|
|
VEGF
|
[NCBI]
|
1.51449e-07
|
|
|
PTK2
|
[NCBI]
|
6.84069e-08
|
|
|
HGF
|
[NCBI]
|
1.25082e-08
|
|
|
DHFR
|
[NCBI]
|
1.16917e-08
|
|
|
BWS
|
[NCBI]
|
4.52271e-11
|
|