|
OMIM |
Link |
Information gain |
01 |
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.00343417
|
|
|
kabuki syndrome
|
[NCBI]
|
0.00223137
|
|
|
cranioectodermal dysplasia
|
[NCBI]
|
0.00149745
|
|
|
SRS
|
[NCBI]
|
0.0013396
|
|
|
macrocephaly with multiple epiphyseal dysplasia and distinctive facies
|
[NCBI]
|
0.00124787
|
|
|
CMDR
|
[NCBI]
|
0.000894199
|
|
|
NLS
|
[NCBI]
|
0.000887795
|
|
|
3q29 microdeletion syndrome
|
[NCBI]
|
0.000772316
|
|
|
curly hair-acral keratoderma-caries syndrome
|
[NCBI]
|
0.000772316
|
|
|
MCOPS1
|
[NCBI]
|
0.000737172
|
|
|
WHS
|
[NCBI]
|
0.000699856
|
|
|
SMS
|
[NCBI]
|
0.000599038
|
|
|
DGS
|
[NCBI]
|
0.000537186
|
|
|
GCPS
|
[NCBI]
|
0.000489999
|
|
|
axenfeld-rieger anomaly with cardiac defects and sensorineural hearing loss
|
[NCBI]
|
0.000474393
|
|
|
nablus mask-like facial syndrome
|
[NCBI]
|
0.000474393
|
|
|
megalencephaly-cutis marmorata telangiectatica congenita
|
[NCBI]
|
0.00044572
|
|
|
MCOPS4
|
[NCBI]
|
0.000422121
|
|
|
sotos syndrome
|
[NCBI]
|
0.000388218
|
|
|
dysgnathia complex
|
[NCBI]
|
0.000383548
|
|
|
acromegaloid facial appearance syndrome
|
[NCBI]
|
0.000383548
|
|
|
auriculocondylar syndrome
|
[NCBI]
|
0.000383548
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000341728
|
|
|
MCOPS6
|
[NCBI]
|
0.000327869
|
|
|
CFNS
|
[NCBI]
|
0.000326111
|
|
|
gracile bone dysplasia
|
[NCBI]
|
0.000316832
|
|
|
PKS
|
[NCBI]
|
0.000315964
|
|
|
ODDD
|
[NCBI]
|
0.000306805
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.000306484
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
0.000306484
|
|
|
NSD1
|
[NCBI]
|
0.000306269
|
|
|
HYPX
|
[NCBI]
|
0.000287933
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
0.000287933
|
|
|
weaver syndrome
|
[NCBI]
|
0.00027526
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.000271581
|
|
|
MADA
|
[NCBI]
|
0.000268114
|
|
|
OFC1
|
[NCBI]
|
0.000261232
|
|
|
ZLS
|
[NCBI]
|
0.000243826
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
0.000239405
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
0.000231863
|
|
|
FMD
|
[NCBI]
|
0.000224741
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.00022091
|
|
|
constricting bands, congenital
|
[NCBI]
|
0.00022091
|
|
|
FGFR2
|
[NCBI]
|
0.000212942
|
|
|
RAI1
|
[NCBI]
|
0.00020111
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.000194875
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.000192811
|
|
|
CD
|
[NCBI]
|
0.000189876
|
|
|
frontoocular syndrome
|
[NCBI]
|
0.000189199
|
|
|
vascular malformation, primary intraosseous
|
[NCBI]
|
0.000189199
|
|
|
COH1
|
[NCBI]
|
0.000185264
|
|
|
floating-harbor syndrome
|
[NCBI]
|
0.000185197
|
|
|
KCS
|
[NCBI]
|
0.000179784
|
|
|
LDS
|
[NCBI]
|
0.000170522
|
|
|
HFM
|
[NCBI]
|
0.000165434
|
|
|
COH1
|
[NCBI]
|
0.000164754
|
|
|
c syndrome
|
[NCBI]
|
0.00016278
|
|
|
marshall syndrome
|
[NCBI]
|
0.000159338
|
|
|
mental retardation, buenos aires type
|
[NCBI]
|
0.000158292
|
|
|
CES
|
[NCBI]
|
0.0001523
|
|
|
diabetes mellitus, transient neonatal, 1
|
[NCBI]
|
0.000150964
|
|
|
EFNB1
|
[NCBI]
|
0.000150724
|
|
|
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
|
[NCBI]
|
0.000144349
|
|
|
MADB
|
[NCBI]
|
0.000144349
|
|
|
BRRS
|
[NCBI]
|
0.000143047
|
|
|
COL11A1
|
[NCBI]
|
0.000135407
|
|
|
PTEN
|
[NCBI]
|
0.000134997
|
|
|
PTHS
|
[NCBI]
|
0.000134791
|
|
|
macrocephaly/autism syndrome
|
[NCBI]
|
0.000127479
|
|
|
c-like syndrome
|
[NCBI]
|
0.000127479
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.000125438
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
0.000121547
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
0.000121547
|
|
|
PCD
|
[NCBI]
|
0.000120726
|
|
|
GLI3
|
[NCBI]
|
0.000117922
|
|
|
TGFBR2
|
[NCBI]
|
0.000115397
|
|
|
LMNA
|
[NCBI]
|
0.000112941
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.000111704
|
|
|
DLG1
|
[NCBI]
|
0.000110795
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
0.000108459
|
|
|
HRD
|
[NCBI]
|
0.000105078
|
|
|
MBS
|
[NCBI]
|
0.000104699
|
|
|
FLNA
|
[NCBI]
|
0.00010443
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000101091
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
9.92445e-05
|
|
|
RNS
|
[NCBI]
|
9.92445e-05
|
|
|
three m syndrome
|
[NCBI]
|
9.92445e-05
|
|
|
SKI
|
[NCBI]
|
9.67539e-05
|
|
|
potocki-shaffer syndrome
|
[NCBI]
|
9.66911e-05
|
|
|
progeroid facial appearance with hand anomalies
|
[NCBI]
|
9.45686e-05
|
|
|
multiple congenital anomalies syndrome with cloverleaf skull
|
[NCBI]
|
9.45686e-05
|
|
|
otofacioosseous-gonadal syndrome
|
[NCBI]
|
9.45686e-05
|
|
|
arthropathy, erosive
|
[NCBI]
|
9.45686e-05
|
|
|
COFS4
|
[NCBI]
|
9.45686e-05
|
|
|
craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation
|
[NCBI]
|
9.45686e-05
|
|
|
growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
|
[NCBI]
|
9.45686e-05
|
|
|
PFM
|
[NCBI]
|
9.43313e-05
|
|
|
OPD1
|
[NCBI]
|
9.43313e-05
|
|
|
ECE1
|
[NCBI]
|
9.36738e-05
|
|
|
COFS1
|
[NCBI]
|
9.21381e-05
|
|
|
SHH
|
[NCBI]
|
9.19537e-05
|
|
|
VWS
|
[NCBI]
|
9.1952e-05
|
|
|
GJA1
|
[NCBI]
|
9.05772e-05
|
|
|
OPD2
|
[NCBI]
|
9.00901e-05
|
|
|
CLS
|
[NCBI]
|
8.97392e-05
|
|
|
seckel syndrome 1
|
[NCBI]
|
8.81694e-05
|
|
|
JBS
|
[NCBI]
|
8.63615e-05
|
|
|
MNS
|
[NCBI]
|
8.0039e-05
|
|
|
AOS
|
[NCBI]
|
7.9353e-05
|
|
|
ROR2
|
[NCBI]
|
7.85432e-05
|
|
|
LRP2
|
[NCBI]
|
7.85432e-05
|
|
|
CCD
|
[NCBI]
|
7.73636e-05
|
|
|
IRF6
|
[NCBI]
|
7.72677e-05
|
|
|
ACLS
|
[NCBI]
|
7.60337e-05
|
|
|
MRD1
|
[NCBI]
|
7.21434e-05
|
|
|
plantar lipomatosis, unusual facies, and developmental delay
|
[NCBI]
|
7.21434e-05
|
|
|
AGS4
|
[NCBI]
|
7.21434e-05
|
|
|
CLSD
|
[NCBI]
|
7.21434e-05
|
|
|
deafness, autosomal recessive
|
[NCBI]
|
7.21434e-05
|
|
|
craniofacial dysmorphism with ocular coloboma, absent corpus callosum, and aortic dilatation
|
[NCBI]
|
7.21434e-05
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
7.15901e-05
|
|
|
ABS
|
[NCBI]
|
7.14086e-05
|
|
|
EDN1
|
[NCBI]
|
7.09866e-05
|
|
|
RYK
|
[NCBI]
|
6.91328e-05
|
|
|
BARX2
|
[NCBI]
|
6.91328e-05
|
|
|
mental retardation, x-linked, south african type
|
[NCBI]
|
6.91328e-05
|
|
|
CD96
|
[NCBI]
|
6.91328e-05
|
|
|
B3GALTL
|
[NCBI]
|
6.91328e-05
|
|
|
MRPL40
|
[NCBI]
|
6.91328e-05
|
|
|
MBD5
|
[NCBI]
|
6.91328e-05
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
6.7407e-05
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
6.55933e-05
|
|
|
proteus syndrome
|
[NCBI]
|
6.45781e-05
|
|
|
RBS
|
[NCBI]
|
6.38857e-05
|
|
|
multiple pterygium syndrome, aslan type
|
[NCBI]
|
6.37086e-05
|
|
|
yemenite deaf-blind hypopigmentation syndrome
|
[NCBI]
|
6.37086e-05
|
|
|
cree mental retardation syndrome
|
[NCBI]
|
6.37086e-05
|
|
|
lissencephaly type iii and bone dysplasia
|
[NCBI]
|
6.37086e-05
|
|
|
spondylocostal dysostosis with anal atresia and urogenital anomalies
|
[NCBI]
|
6.37086e-05
|
|
|
bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
|
[NCBI]
|
6.37086e-05
|
|
|
PHS
|
[NCBI]
|
5.92959e-05
|
|
|
PFM2
|
[NCBI]
|
5.82477e-05
|
|
|
furlong syndrome: fs
|
[NCBI]
|
5.82477e-05
|
|
|
simpson-golabi-behmel syndrome, type 2
|
[NCBI]
|
5.82477e-05
|
|
|
macrocephaly, benign familial
|
[NCBI]
|
5.82477e-05
|
|
|
MAP2K2
|
[NCBI]
|
5.53615e-05
|
|
|
IL17RA
|
[NCBI]
|
5.53615e-05
|
|
|
PRRX2
|
[NCBI]
|
5.53615e-05
|
|
|
CECR2
|
[NCBI]
|
5.53615e-05
|
|
|
E2F4
|
[NCBI]
|
5.53615e-05
|
|
|
GAS1
|
[NCBI]
|
5.53615e-05
|
|
|
SEC23A
|
[NCBI]
|
5.53615e-05
|
|
|
CRTL1
|
[NCBI]
|
5.53615e-05
|
|
|
SLC25A18
|
[NCBI]
|
5.53615e-05
|
|
|
MNT
|
[NCBI]
|
5.53615e-05
|
|
|
GNA11
|
[NCBI]
|
5.53615e-05
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
5.43126e-05
|
|
|
polydactyly, preaxial iv
|
[NCBI]
|
5.41992e-05
|
|
|
splenogonadal fusion with limb defects and micrognathia
|
[NCBI]
|
5.41992e-05
|
|
|
GCS1
|
[NCBI]
|
5.41992e-05
|
|
|
cerebellotrigeminal dermal dysplasia
|
[NCBI]
|
5.09825e-05
|
|
|
clark-baraitser syndrome
|
[NCBI]
|
5.09825e-05
|
|
|
syndactyly, type iii
|
[NCBI]
|
5.09825e-05
|
|
|
CNTN4
|
[NCBI]
|
5.01695e-05
|
|
|
EPHB3
|
[NCBI]
|
5.01695e-05
|
|
|
SOX14
|
[NCBI]
|
5.01695e-05
|
|
|
VSX1
|
[NCBI]
|
5.01695e-05
|
|
|
JAG2
|
[NCBI]
|
5.01695e-05
|
|
|
LETM1
|
[NCBI]
|
5.01695e-05
|
|
|
UFD1L
|
[NCBI]
|
5.01695e-05
|
|
|
LTBP3
|
[NCBI]
|
5.01695e-05
|
|
|
RNASEH2A
|
[NCBI]
|
5.01695e-05
|
|
|
CLTCL1
|
[NCBI]
|
5.01695e-05
|
|
|
IHH
|
[NCBI]
|
4.84194e-05
|
|
|
monosomy 1p36 syndrome
|
[NCBI]
|
4.83156e-05
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
4.83156e-05
|
|
|
marshall-smith syndrome
|
[NCBI]
|
4.83156e-05
|
|
|
STL2
|
[NCBI]
|
4.83156e-05
|
|
|
CDC45L
|
[NCBI]
|
4.68011e-05
|
|
|
SIX6
|
[NCBI]
|
4.68011e-05
|
|
|
SHOX2
|
[NCBI]
|
4.68011e-05
|
|
|
CSH1
|
[NCBI]
|
4.68011e-05
|
|
|
vacterl association with hydrocephalus
|
[NCBI]
|
4.60392e-05
|
|
|
frontonasal dysplasia
|
[NCBI]
|
4.60392e-05
|
|
|
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
|
[NCBI]
|
4.60392e-05
|
|
|
PMX1
|
[NCBI]
|
4.42988e-05
|
|
|
ESCO2
|
[NCBI]
|
4.42988e-05
|
|
|
SATB2
|
[NCBI]
|
4.42988e-05
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
4.4055e-05
|
|
|
metaphyseal chondrodysplasia, jansen type
|
[NCBI]
|
4.4055e-05
|
|
|
MODY2
|
[NCBI]
|
4.4055e-05
|
|
|
MFS2
|
[NCBI]
|
4.4055e-05
|
|
|
OGD
|
[NCBI]
|
4.4055e-05
|
|
|
peters-plus syndrome
|
[NCBI]
|
4.4055e-05
|
|
|
RAD23B
|
[NCBI]
|
4.23067e-05
|
|
|
GSC
|
[NCBI]
|
4.23067e-05
|
|
|
LGR8
|
[NCBI]
|
4.23067e-05
|
|
|
PAK2
|
[NCBI]
|
4.23067e-05
|
|
|
BOCD
|
[NCBI]
|
4.22976e-05
|
|
|
char syndrome
|
[NCBI]
|
4.22976e-05
|
|
|
KNO
|
[NCBI]
|
4.22976e-05
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
4.07212e-05
|
|
|
OSMED
|
[NCBI]
|
4.07212e-05
|
|
|
d-2-@hydroxyglutaric aciduria
|
[NCBI]
|
4.07212e-05
|
|
|
GTF2IRD1
|
[NCBI]
|
4.06516e-05
|
|
|
GRB10
|
[NCBI]
|
4.06516e-05
|
|
|
ALX4
|
[NCBI]
|
4.06516e-05
|
|
|
NDST1
|
[NCBI]
|
4.06516e-05
|
|
|
HTX1
|
[NCBI]
|
3.92929e-05
|
|
|
FFS
|
[NCBI]
|
3.92929e-05
|
|
|
SIX3
|
[NCBI]
|
3.92361e-05
|
|
|
MAP2K1
|
[NCBI]
|
3.92361e-05
|
|
|
GNAQ
|
[NCBI]
|
3.92361e-05
|
|
|
EPHB2
|
[NCBI]
|
3.92361e-05
|
|
|
CHUK
|
[NCBI]
|
3.79997e-05
|
|
|
TRPS1
|
[NCBI]
|
3.79997e-05
|
|
|
TGFBR1
|
[NCBI]
|
3.79997e-05
|
|
|
ALDH1A2
|
[NCBI]
|
3.79997e-05
|
|
|
MLC1
|
[NCBI]
|
3.79997e-05
|
|
|
TNF
|
[NCBI]
|
3.7644e-05
|
|
|
APAF1
|
[NCBI]
|
3.69024e-05
|
|
|
FGD1
|
[NCBI]
|
3.69024e-05
|
|
|
CXORF5
|
[NCBI]
|
3.69024e-05
|
|
|
PAX9
|
[NCBI]
|
3.69024e-05
|
|
|
ANKH
|
[NCBI]
|
3.69024e-05
|
|
|
DA2B
|
[NCBI]
|
3.67872e-05
|
|
|
HPE2
|
[NCBI]
|
3.67872e-05
|
|
|
MCOPS2
|
[NCBI]
|
3.67872e-05
|
|
|
SLOS
|
[NCBI]
|
3.677e-05
|
|
|
MSX2
|
[NCBI]
|
3.59161e-05
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
3.56757e-05
|
|
|
CTHM
|
[NCBI]
|
3.56757e-05
|
|
|
FOXP2
|
[NCBI]
|
3.50206e-05
|
|
|
ERCC1
|
[NCBI]
|
3.42007e-05
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
3.36752e-05
|
|
|
CFTD
|
[NCBI]
|
3.36752e-05
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
3.36752e-05
|
|
|
MG
|
[NCBI]
|
3.34698e-05
|
|
|
DRRS
|
[NCBI]
|
3.27686e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
3.27686e-05
|
|
|
ZEB2
|
[NCBI]
|
3.27435e-05
|
|
|
SALL4
|
[NCBI]
|
3.20898e-05
|
|
|
MFS
|
[NCBI]
|
3.18081e-05
|
|
|
MSX1
|
[NCBI]
|
3.14775e-05
|
|
|
TBX1
|
[NCBI]
|
3.14775e-05
|
|
|
FOXC2
|
[NCBI]
|
3.03588e-05
|
|
|
CMDD
|
[NCBI]
|
3.03454e-05
|
|
|
SPCH1
|
[NCBI]
|
2.96206e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
2.96206e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
2.96206e-05
|
|
|
TCOF1
|
[NCBI]
|
2.8893e-05
|
|
|
ATR
|
[NCBI]
|
2.8893e-05
|
|
|
HNA
|
[NCBI]
|
2.82733e-05
|
|
|
RPS6KA3
|
[NCBI]
|
2.80275e-05
|
|
|
PPS
|
[NCBI]
|
2.76451e-05
|
|
|
RUNX2
|
[NCBI]
|
2.76227e-05
|
|
|
DNMT3B
|
[NCBI]
|
2.76227e-05
|
|
|
SOX10
|
[NCBI]
|
2.76227e-05
|
|
|
TP73L
|
[NCBI]
|
2.76227e-05
|
|
|
PITX2
|
[NCBI]
|
2.72344e-05
|
|
|
MLC
|
[NCBI]
|
2.7044e-05
|
|
|
FGFR3
|
[NCBI]
|
2.64267e-05
|
|
|
RIEG1
|
[NCBI]
|
2.59147e-05
|
|
|
VASP
|
[NCBI]
|
2.51904e-05
|
|
|
FGF8
|
[NCBI]
|
2.45973e-05
|
|
|
MSS
|
[NCBI]
|
2.39028e-05
|
|
|
pfeiffer syndrome
|
[NCBI]
|
2.34436e-05
|
|
|
SCDO1
|
[NCBI]
|
2.34436e-05
|
|
|
BRAF
|
[NCBI]
|
2.32616e-05
|
|
|
SGBS1
|
[NCBI]
|
2.29998e-05
|
|
|
HCH
|
[NCBI]
|
2.25704e-05
|
|
|
MDLS
|
[NCBI]
|
2.21546e-05
|
|
|
FIH
|
[NCBI]
|
2.17517e-05
|
|
|
charge syndrome
|
[NCBI]
|
2.13609e-05
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
2.12037e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
2.09817e-05
|
|
|
STL1
|
[NCBI]
|
2.09817e-05
|
|
|
BCNS
|
[NCBI]
|
2.07344e-05
|
|
|
campomelic dysplasia
|
[NCBI]
|
1.95691e-05
|
|
|
CMTC
|
[NCBI]
|
1.86057e-05
|
|
|
down syndrome
|
[NCBI]
|
1.7713e-05
|
|
|
WBS
|
[NCBI]
|
1.71168e-05
|
|
|
EGF
|
[NCBI]
|
1.70875e-05
|
|
|
CPI
|
[NCBI]
|
1.66578e-05
|
|
|
IGFALS
|
[NCBI]
|
1.64413e-05
|
|
|
FGFR1
|
[NCBI]
|
1.57748e-05
|
|
|
MHS1
|
[NCBI]
|
1.46985e-05
|
|
|
HOS
|
[NCBI]
|
1.46985e-05
|
|
|
PTH
|
[NCBI]
|
1.40372e-05
|
|
|
TCOF
|
[NCBI]
|
1.34504e-05
|
|
|
GHR
|
[NCBI]
|
1.26223e-05
|
|
|
BRCA2
|
[NCBI]
|
1.2479e-05
|
|
|
TD1
|
[NCBI]
|
1.13307e-05
|
|
|
EGFR
|
[NCBI]
|
1.06442e-05
|
|
|
ACH
|
[NCBI]
|
6.37776e-06
|
|
|
PWS
|
[NCBI]
|
5.01827e-06
|
|
|
NF1
|
[NCBI]
|
4.75843e-06
|
|
|
AFP
|
[NCBI]
|
4.33759e-06
|
|
|
PTHLH
|
[NCBI]
|
2.09999e-06
|
|
|
BWS
|
[NCBI]
|
4.99371e-08
|
|