|
OMIM |
Link |
Information gain |
01 |
|
OSCS
|
[NCBI]
|
0.00733381
|
|
|
AOS
|
[NCBI]
|
0.00515348
|
|
|
OSCS
|
[NCBI]
|
0.0036479
|
|
|
proteus syndrome
|
[NCBI]
|
0.00303084
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.00288253
|
|
|
kbg syndrome
|
[NCBI]
|
0.0018004
|
|
|
doughnut lesions of skull, familial
|
[NCBI]
|
0.00169521
|
|
|
membranous cranial ossification, delayed
|
[NCBI]
|
0.00169521
|
|
|
RA
|
[NCBI]
|
0.00168974
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.00150097
|
|
|
cranioectodermal dysplasia
|
[NCBI]
|
0.00138337
|
|
|
GCPS
|
[NCBI]
|
0.00129355
|
|
|
cerebrofaciothoracic dysplasia
|
[NCBI]
|
0.00127199
|
|
|
megalencephaly
|
[NCBI]
|
0.00127199
|
|
|
CMDD
|
[NCBI]
|
0.00116148
|
|
|
peho syndrome
|
[NCBI]
|
0.00108353
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.00108353
|
|
|
PTH
|
[NCBI]
|
0.00107749
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.000955773
|
|
|
PFM
|
[NCBI]
|
0.000895621
|
|
|
ACC
|
[NCBI]
|
0.000879526
|
|
|
CMDR
|
[NCBI]
|
0.000859075
|
|
|
fibrochondrogenesis
|
[NCBI]
|
0.000859075
|
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.000859075
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.000859075
|
|
|
abidi x-linked mental retardation syndrome
|
[NCBI]
|
0.000846858
|
|
|
pseudohermaphroditism, female, with skeletal anomalies
|
[NCBI]
|
0.000846858
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000839621
|
|
|
TD1
|
[NCBI]
|
0.00072272
|
|
|
hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
|
[NCBI]
|
0.00072127
|
|
|
TD2
|
[NCBI]
|
0.0006754
|
|
|
constricting bands, congenital
|
[NCBI]
|
0.000661819
|
|
|
CCD
|
[NCBI]
|
0.000643888
|
|
|
HSS
|
[NCBI]
|
0.00058888
|
|
|
c syndrome
|
[NCBI]
|
0.000549908
|
|
|
scholte syndrome
|
[NCBI]
|
0.000541053
|
|
|
SCS
|
[NCBI]
|
0.000537047
|
|
|
sotos syndrome
|
[NCBI]
|
0.000537047
|
|
|
FMD
|
[NCBI]
|
0.000533492
|
|
|
BRRS
|
[NCBI]
|
0.000530288
|
|
|
RTD
|
[NCBI]
|
0.000530113
|
|
|
CFNS
|
[NCBI]
|
0.000530113
|
|
|
ABS
|
[NCBI]
|
0.000480767
|
|
|
HFM
|
[NCBI]
|
0.000440883
|
|
|
microcephalic osteodysplastic primordial dwarfism, type iii
|
[NCBI]
|
0.00042886
|
|
|
mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
|
[NCBI]
|
0.00042886
|
|
|
spondylometaphyseal dysplasia, sedaghatian type
|
[NCBI]
|
0.00042886
|
|
|
adducted thumbs syndrome
|
[NCBI]
|
0.00042886
|
|
|
ASD1
|
[NCBI]
|
0.00042886
|
|
|
anencephaly
|
[NCBI]
|
0.00042886
|
|
|
CRS1
|
[NCBI]
|
0.00042509
|
|
|
ACLS
|
[NCBI]
|
0.000416808
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.000415073
|
|
|
pfeiffer syndrome
|
[NCBI]
|
0.000379722
|
|
|
chiari malformation type i
|
[NCBI]
|
0.000369173
|
|
|
RNS
|
[NCBI]
|
0.000360751
|
|
|
pycnodysostosis
|
[NCBI]
|
0.000360751
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
0.000357822
|
|
|
basal ganglia calcification, idiopathic, 2
|
[NCBI]
|
0.000357822
|
|
|
pyle disease
|
[NCBI]
|
0.000357822
|
|
|
bruck syndrome 1
|
[NCBI]
|
0.000357822
|
|
|
hypertelorism, teebi type
|
[NCBI]
|
0.000357822
|
|
|
folic acid, transport defect involving
|
[NCBI]
|
0.000357822
|
|
|
SOST
|
[NCBI]
|
0.000332142
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
0.000332142
|
|
|
SRS
|
[NCBI]
|
0.000326895
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.00030633
|
|
|
EFMR
|
[NCBI]
|
0.00030633
|
|
|
opsismodysplasia
|
[NCBI]
|
0.00030633
|
|
|
lateral meningocele syndrome
|
[NCBI]
|
0.00030633
|
|
|
gapo syndrome
|
[NCBI]
|
0.00030633
|
|
|
PFM2
|
[NCBI]
|
0.000306066
|
|
|
OPD2
|
[NCBI]
|
0.000299881
|
|
|
potocki-shaffer syndrome
|
[NCBI]
|
0.000299881
|
|
|
camurati-engelmann disease
|
[NCBI]
|
0.000290984
|
|
|
apert syndrome
|
[NCBI]
|
0.000290984
|
|
|
SPP1
|
[NCBI]
|
0.000284352
|
|
|
ACP5
|
[NCBI]
|
0.000274375
|
|
|
micromelic bone dysplasia with cloverleaf skull
|
[NCBI]
|
0.000267205
|
|
|
cree mental retardation syndrome
|
[NCBI]
|
0.000267205
|
|
|
scott craniodigital syndrome with mental retardation
|
[NCBI]
|
0.000267205
|
|
|
teebi-shaltout syndrome
|
[NCBI]
|
0.000267205
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.000266351
|
|
|
IH
|
[NCBI]
|
0.000266351
|
|
|
MCOPS6
|
[NCBI]
|
0.000266351
|
|
|
short rib-polydactyly syndrome, type i
|
[NCBI]
|
0.000266351
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
0.000266351
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
0.000266351
|
|
|
DWS
|
[NCBI]
|
0.000264444
|
|
|
WS1
|
[NCBI]
|
0.000257596
|
|
|
CPI
|
[NCBI]
|
0.000252313
|
|
|
megalencephaly-cutis marmorata telangiectatica congenita
|
[NCBI]
|
0.000252218
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000250509
|
|
|
ACH
|
[NCBI]
|
0.000243023
|
|
|
TCOF
|
[NCBI]
|
0.000240166
|
|
|
FRNS
|
[NCBI]
|
0.000237356
|
|
|
dysgnathia complex
|
[NCBI]
|
0.00023398
|
|
|
STHAG4
|
[NCBI]
|
0.00023398
|
|
|
acrodysostosis
|
[NCBI]
|
0.00023398
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
0.000229602
|
|
|
RBS
|
[NCBI]
|
0.000223968
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
0.000213357
|
|
|
scalp defects and postaxial polydactyly
|
[NCBI]
|
0.000213357
|
|
|
CDD
|
[NCBI]
|
0.000213357
|
|
|
TNFRSF11B
|
[NCBI]
|
0.000211701
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.000207015
|
|
|
weaver syndrome
|
[NCBI]
|
0.000197596
|
|
|
FGFR2
|
[NCBI]
|
0.000196009
|
|
|
trichodentoosseous syndrome
|
[NCBI]
|
0.000191279
|
|
|
mulibrey nanism
|
[NCBI]
|
0.000191279
|
|
|
shprintzen-goldberg craniosynostosis syndrome
|
[NCBI]
|
0.000189159
|
|
|
CDHS
|
[NCBI]
|
0.000189159
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000184094
|
|
|
ZLS
|
[NCBI]
|
0.000184094
|
|
|
MAS
|
[NCBI]
|
0.000182218
|
|
|
young-simpson syndrome
|
[NCBI]
|
0.000172627
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
0.000172627
|
|
|
macrocephaly, benign familial
|
[NCBI]
|
0.000172627
|
|
|
HCH
|
[NCBI]
|
0.000165685
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000164312
|
|
|
clark-baraitser syndrome
|
[NCBI]
|
0.000160017
|
|
|
sturge-weber syndrome
|
[NCBI]
|
0.000160017
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.000153649
|
|
|
fraser syndrome
|
[NCBI]
|
0.000150032
|
|
|
LDS
|
[NCBI]
|
0.000149823
|
|
|
ACG1A
|
[NCBI]
|
0.000147037
|
|
|
BGS
|
[NCBI]
|
0.000146585
|
|
|
SGBS1
|
[NCBI]
|
0.000146585
|
|
|
GDD
|
[NCBI]
|
0.000141271
|
|
|
DA2A
|
[NCBI]
|
0.000140142
|
|
|
diaphragmatic defects, limb deficiencies, and ossification defects of skull
|
[NCBI]
|
0.000133571
|
|
|
lethal short-limb skeletal dysplasia, al gazali type
|
[NCBI]
|
0.000133571
|
|
|
renal and mullerian duct hypoplasia
|
[NCBI]
|
0.000133571
|
|
|
multiple congenital anomalies syndrome with cloverleaf skull
|
[NCBI]
|
0.000133571
|
|
|
craniodiaphyseal dysplasia, dominant
|
[NCBI]
|
0.000133571
|
|
|
dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
|
[NCBI]
|
0.000133571
|
|
|
vascular malformation, primary intraosseous
|
[NCBI]
|
0.000133571
|
|
|
trichoodontoonychial dysplasia
|
[NCBI]
|
0.000133571
|
|
|
thanatophoric dysplasia, glasgow variant
|
[NCBI]
|
0.000133571
|
|
|
van buchem disease, type 2
|
[NCBI]
|
0.000133571
|
|
|
megalencephaly with dysmyelination
|
[NCBI]
|
0.000133571
|
|
|
trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
|
[NCBI]
|
0.000133571
|
|
|
pituitary dwarfism with small sella turcica
|
[NCBI]
|
0.000133571
|
|
|
acrofrontofacionasal dysostosis syndrome
|
[NCBI]
|
0.000133571
|
|
|
sella turcica, bridged
|
[NCBI]
|
0.000133571
|
|
|
retinohepatoendocrinologic syndrome
|
[NCBI]
|
0.000133571
|
|
|
spondyloepimetaphyseal dysplasia with hypotrichosis
|
[NCBI]
|
0.000133571
|
|
|
mental retardation syndrome, belgian type
|
[NCBI]
|
0.000133571
|
|
|
aurocephalosyndactyly
|
[NCBI]
|
0.000133571
|
|
|
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures
|
[NCBI]
|
0.000133571
|
|
|
craniosynostosis
|
[NCBI]
|
0.000133571
|
|
|
scaphocephaly, maxillary retrusion, and mental retardation
|
[NCBI]
|
0.000133571
|
|
|
ribbing disease
|
[NCBI]
|
0.000133571
|
|
|
fryns macrocephaly
|
[NCBI]
|
0.000133571
|
|
|
kleeblattschaedel syndrome
|
[NCBI]
|
0.000133571
|
|
|
fibromatosis, gingival, with distinctive facies
|
[NCBI]
|
0.000133571
|
|
|
aortic arch anomaly with peculiar facies and mental retardation
|
[NCBI]
|
0.000133571
|
|
|
brachioskeletogenital syndrome
|
[NCBI]
|
0.000133571
|
|
|
hyperostosis cranialis interna
|
[NCBI]
|
0.000133571
|
|
|
incisors, lower central, absence of
|
[NCBI]
|
0.000133571
|
|
|
bowing of long bones, asymmetric and symmetric
|
[NCBI]
|
0.000133571
|
|
|
fraser-like syndrome
|
[NCBI]
|
0.000133571
|
|
|
neutrophilia, hereditary
|
[NCBI]
|
0.000133571
|
|
|
short stature, pituitary and cerebellar defects, and small sella turcica
|
[NCBI]
|
0.000133571
|
|
|
brachymetapody-anodontia-hypotrichosis-albinoidism
|
[NCBI]
|
0.000133571
|
|
|
mental retardation, x-linked, with craniofacial dysmorphism
|
[NCBI]
|
0.000133571
|
|
|
MSX2
|
[NCBI]
|
0.000131408
|
|
|
ZS
|
[NCBI]
|
0.000128861
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.000118293
|
|
|
FGFR3
|
[NCBI]
|
0.000117633
|
|
|
HPE2
|
[NCBI]
|
0.000116561
|
|
|
paget disease, juvenile
|
[NCBI]
|
0.000116561
|
|
|
PAX3
|
[NCBI]
|
0.000111871
|
|
|
COFS1
|
[NCBI]
|
0.000107582
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
0.000103629
|
|
|
ALX4
|
[NCBI]
|
9.93516e-05
|
|
|
ANKH
|
[NCBI]
|
9.62232e-05
|
|
|
crane-heise syndrome
|
[NCBI]
|
9.45491e-05
|
|
|
spondylometaepiphyseal dysplasia, short limb-hand type
|
[NCBI]
|
9.45491e-05
|
|
|
spondylometaphyseal dysplasia, algerian type
|
[NCBI]
|
9.45491e-05
|
|
|
acrocephalopolydactylous dysplasia
|
[NCBI]
|
9.45491e-05
|
|
|
MYH16
|
[NCBI]
|
9.45491e-05
|
|
|
craniofacial dyssynostosis with short stature
|
[NCBI]
|
9.45491e-05
|
|
|
aniridia, partial, with unilateral renal agenesis and psychomotor retardation
|
[NCBI]
|
9.45491e-05
|
|
|
codas syndrome
|
[NCBI]
|
9.45491e-05
|
|
|
ulna metaphyseal dysplasia syndrome
|
[NCBI]
|
9.45491e-05
|
|
|
achondrogenesis, type iii
|
[NCBI]
|
9.45491e-05
|
|
|
cystic angiomatosis of bone, diffuse
|
[NCBI]
|
9.45491e-05
|
|
|
larsen-like syndrome, lethal type
|
[NCBI]
|
9.45491e-05
|
|
|
achondrogenesis, type iv
|
[NCBI]
|
9.45491e-05
|
|
|
OAFNS
|
[NCBI]
|
9.45491e-05
|
|
|
alpha-2-deficient collagen disease
|
[NCBI]
|
9.45491e-05
|
|
|
CD
|
[NCBI]
|
9.28202e-05
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
9.03866e-05
|
|
|
BGN
|
[NCBI]
|
9.00473e-05
|
|
|
JBS
|
[NCBI]
|
8.75742e-05
|
|
|
aneurysm, intracranial berry, 1
|
[NCBI]
|
8.56126e-05
|
|
|
OFD1
|
[NCBI]
|
8.49196e-05
|
|
|
brachymorphism-onychodysplasia-dysphalangism syndrome
|
[NCBI]
|
7.9979e-05
|
|
|
cutis gyrata syndrome of beare and stevenson
|
[NCBI]
|
7.9979e-05
|
|
|
aplasia cutis congenita with epibulbar dermoids
|
[NCBI]
|
7.9979e-05
|
|
|
craniotelencephalic dysplasia
|
[NCBI]
|
7.9979e-05
|
|
|
trigonocephaly, nonsyndromic
|
[NCBI]
|
7.9979e-05
|
|
|
OPTA1
|
[NCBI]
|
7.9979e-05
|
|
|
pulmonic stenosis
|
[NCBI]
|
7.9979e-05
|
|
|
robinow-sorauf syndrome
|
[NCBI]
|
7.9979e-05
|
|
|
carpenter syndrome
|
[NCBI]
|
7.9979e-05
|
|
|
myeloma, multiple
|
[NCBI]
|
7.9979e-05
|
|
|
macrocephaly
|
[NCBI]
|
7.9979e-05
|
|
|
fountain syndrome
|
[NCBI]
|
7.9979e-05
|
|
|
ODDD
|
[NCBI]
|
7.77574e-05
|
|
|
GLI3
|
[NCBI]
|
7.07264e-05
|
|
|
WS3
|
[NCBI]
|
7.06065e-05
|
|
|
gorlin-chaudhry-moss syndrome
|
[NCBI]
|
7.06065e-05
|
|
|
camptomelic syndrome, long-limb type
|
[NCBI]
|
7.06065e-05
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
7.06065e-05
|
|
|
desmosterolosis
|
[NCBI]
|
7.06065e-05
|
|
|
gracile bone dysplasia
|
[NCBI]
|
7.06065e-05
|
|
|
arhinia, choanal atresia, and microphthalmia
|
[NCBI]
|
7.06065e-05
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
7.06065e-05
|
|
|
CMTC
|
[NCBI]
|
6.96844e-05
|
|
|
PMX1
|
[NCBI]
|
6.73855e-05
|
|
|
DA2B
|
[NCBI]
|
6.37026e-05
|
|
|
valproate embryopathy, susceptibility to
|
[NCBI]
|
6.37026e-05
|
|
|
RCDP2
|
[NCBI]
|
6.37026e-05
|
|
|
muenke syndrome
|
[NCBI]
|
6.37026e-05
|
|
|
ehlers-danlos syndrome, type iii
|
[NCBI]
|
6.37026e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
6.37026e-05
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
6.37026e-05
|
|
|
aprosencephaly syndrome
|
[NCBI]
|
6.37026e-05
|
|
|
MLRD
|
[NCBI]
|
6.37026e-05
|
|
|
floating-harbor syndrome
|
[NCBI]
|
5.82525e-05
|
|
|
uniparental disomy, paternal, chromosome 14
|
[NCBI]
|
5.82525e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
5.82525e-05
|
|
|
cleft lip/palate with abnormal thumbs and microcephaly
|
[NCBI]
|
5.82525e-05
|
|
|
OSMED
|
[NCBI]
|
5.82525e-05
|
|
|
bowing of legs, anterior, with dwarfism
|
[NCBI]
|
5.82525e-05
|
|
|
OPPG
|
[NCBI]
|
5.82525e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
5.70097e-05
|
|
|
down syndrome
|
[NCBI]
|
5.4369e-05
|
|
|
GSC
|
[NCBI]
|
5.38143e-05
|
|
|
metaphyseal chondrodysplasia, jansen type
|
[NCBI]
|
5.37632e-05
|
|
|
amme complex
|
[NCBI]
|
5.37632e-05
|
|
|
OPTA2
|
[NCBI]
|
5.37632e-05
|
|
|
lujan-fryns syndrome
|
[NCBI]
|
5.37632e-05
|
|
|
HRD
|
[NCBI]
|
5.37632e-05
|
|
|
deafness, congenital, with keratopachydermia and constrictions of fingers and toes
|
[NCBI]
|
5.37632e-05
|
|
|
acromesomelic dysplasia, hunter-thompson type
|
[NCBI]
|
5.37632e-05
|
|
|
marshall-smith syndrome
|
[NCBI]
|
5.37632e-05
|
|
|
campomelic dysplasia
|
[NCBI]
|
5.31119e-05
|
|
|
TFAP2A
|
[NCBI]
|
5.27691e-05
|
|
|
WHS
|
[NCBI]
|
5.25051e-05
|
|
|
APC
|
[NCBI]
|
5.24195e-05
|
|
|
osseous heteroplasia, progressive
|
[NCBI]
|
4.99567e-05
|
|
|
disorganization, mouse, homolog of
|
[NCBI]
|
4.99567e-05
|
|
|
tetralogy of fallot
|
[NCBI]
|
4.99567e-05
|
|
|
OGD
|
[NCBI]
|
4.99567e-05
|
|
|
SPARC
|
[NCBI]
|
4.93528e-05
|
|
|
SHH
|
[NCBI]
|
4.81478e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
4.66608e-05
|
|
|
SACS
|
[NCBI]
|
4.66608e-05
|
|
|
frontonasal dysplasia
|
[NCBI]
|
4.66608e-05
|
|
|
RHS
|
[NCBI]
|
4.66608e-05
|
|
|
AOI
|
[NCBI]
|
4.66608e-05
|
|
|
AMDM
|
[NCBI]
|
4.66608e-05
|
|
|
HSCR2
|
[NCBI]
|
4.66608e-05
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
4.37611e-05
|
|
|
PALS
|
[NCBI]
|
4.37611e-05
|
|
|
ALGS1
|
[NCBI]
|
4.33556e-05
|
|
|
TGFBR2
|
[NCBI]
|
4.22792e-05
|
|
|
TWIST1
|
[NCBI]
|
4.22792e-05
|
|
|
CLS
|
[NCBI]
|
4.15029e-05
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
4.11781e-05
|
|
|
OPD1
|
[NCBI]
|
4.11781e-05
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
4.11781e-05
|
|
|
NOG
|
[NCBI]
|
4.11024e-05
|
|
|
AHO
|
[NCBI]
|
3.8899e-05
|
|
|
DMC
|
[NCBI]
|
3.88537e-05
|
|
|
WGN1
|
[NCBI]
|
3.88537e-05
|
|
|
autonomic control, congenital failure of
|
[NCBI]
|
3.88537e-05
|
|
|
kniest dysplasia
|
[NCBI]
|
3.88537e-05
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
3.88537e-05
|
|
|
TNFSF11
|
[NCBI]
|
3.81689e-05
|
|
|
CDG2C
|
[NCBI]
|
3.67449e-05
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
3.67449e-05
|
|
|
pituitary dwarfism iii
|
[NCBI]
|
3.67449e-05
|
|
|
cri-du-chat syndrome
|
[NCBI]
|
3.67449e-05
|
|
|
MCOPS2
|
[NCBI]
|
3.67449e-05
|
|
|
KAZALD1
|
[NCBI]
|
3.58096e-05
|
|
|
DLX6
|
[NCBI]
|
3.58096e-05
|
|
|
twirler mutation, murine, human homolog of
|
[NCBI]
|
3.58096e-05
|
|
|
gpi deacylase
|
[NCBI]
|
3.58096e-05
|
|
|
EDN1
|
[NCBI]
|
3.52313e-05
|
|
|
diabetes insipidus, neurohypophyseal type
|
[NCBI]
|
3.48182e-05
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
3.32151e-05
|
|
|
ichthyosis congenita, harlequin fetus type
|
[NCBI]
|
3.30477e-05
|
|
|
NPY
|
[NCBI]
|
3.26651e-05
|
|
|
PRRX2
|
[NCBI]
|
3.20538e-05
|
|
|
RDH10
|
[NCBI]
|
3.20538e-05
|
|
|
OSR2
|
[NCBI]
|
3.20538e-05
|
|
|
BARX2
|
[NCBI]
|
3.20538e-05
|
|
|
CART1
|
[NCBI]
|
3.20538e-05
|
|
|
PRL
|
[NCBI]
|
3.18569e-05
|
|
|
NPHS1
|
[NCBI]
|
3.14124e-05
|
|
|
GNAS
|
[NCBI]
|
3.06251e-05
|
|
|
LRS1
|
[NCBI]
|
2.98954e-05
|
|
|
PPAC
|
[NCBI]
|
2.98954e-05
|
|
|
IHH
|
[NCBI]
|
2.97199e-05
|
|
|
AIC
|
[NCBI]
|
2.97188e-05
|
|
|
CNTN2
|
[NCBI]
|
2.96192e-05
|
|
|
TOB1
|
[NCBI]
|
2.96192e-05
|
|
|
BMP3
|
[NCBI]
|
2.96192e-05
|
|
|
CDX1
|
[NCBI]
|
2.96192e-05
|
|
|
LTBP3
|
[NCBI]
|
2.96192e-05
|
|
|
COL1A1
|
[NCBI]
|
2.93888e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
2.89525e-05
|
|
|
mucolipidosis iiia
|
[NCBI]
|
2.84828e-05
|
|
|
neuroblastoma stage 4s gene
|
[NCBI]
|
2.7812e-05
|
|
|
CDH6
|
[NCBI]
|
2.7812e-05
|
|
|
STC1
|
[NCBI]
|
2.66375e-05
|
|
|
NGFB
|
[NCBI]
|
2.64808e-05
|
|
|
DLX2
|
[NCBI]
|
2.63744e-05
|
|
|
INHBB
|
[NCBI]
|
2.63744e-05
|
|
|
DLX5
|
[NCBI]
|
2.63744e-05
|
|
|
FAM20C
|
[NCBI]
|
2.63744e-05
|
|
|
SIX6
|
[NCBI]
|
2.63744e-05
|
|
|
SEC23A
|
[NCBI]
|
2.63744e-05
|
|
|
MADA
|
[NCBI]
|
2.5926e-05
|
|
|
MNS
|
[NCBI]
|
2.5926e-05
|
|
|
VWM
|
[NCBI]
|
2.5926e-05
|
|
|
SEDC
|
[NCBI]
|
2.5926e-05
|
|
|
masa syndrome
|
[NCBI]
|
2.5926e-05
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
2.51809e-05
|
|
|
DGCR14
|
[NCBI]
|
2.51809e-05
|
|
|
LHX4
|
[NCBI]
|
2.51809e-05
|
|
|
HTLVR
|
[NCBI]
|
2.41611e-05
|
|
|
SEMA5A
|
[NCBI]
|
2.41611e-05
|
|
|
ACHE
|
[NCBI]
|
2.40112e-05
|
|
|
JPS
|
[NCBI]
|
2.3669e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
2.3669e-05
|
|
|
SOST
|
[NCBI]
|
2.3271e-05
|
|
|
GTF2IRD1
|
[NCBI]
|
2.3271e-05
|
|
|
GFAP
|
[NCBI]
|
2.27054e-05
|
|
|
MRXHF1
|
[NCBI]
|
2.26357e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
2.26357e-05
|
|
|
JBTS1
|
[NCBI]
|
2.253e-05
|
|
|
ALD
|
[NCBI]
|
2.20798e-05
|
|
|
HOXA7
|
[NCBI]
|
2.17728e-05
|
|
|
MMP14
|
[NCBI]
|
2.17728e-05
|
|
|
ATRX
|
[NCBI]
|
2.16585e-05
|
|
|
PAX1
|
[NCBI]
|
2.11296e-05
|
|
|
EIF2B5
|
[NCBI]
|
2.11296e-05
|
|
|
GNPAT
|
[NCBI]
|
2.11296e-05
|
|
|
MSX1
|
[NCBI]
|
2.11296e-05
|
|
|
FGFR1
|
[NCBI]
|
2.08172e-05
|
|
|
EFNB1
|
[NCBI]
|
2.05413e-05
|
|
|
MEF2C
|
[NCBI]
|
2.05413e-05
|
|
|
TNF
|
[NCBI]
|
2.00555e-05
|
|
|
GOT1
|
[NCBI]
|
1.99992e-05
|
|
|
ETS2
|
[NCBI]
|
1.99992e-05
|
|
|
BCNS
|
[NCBI]
|
1.98706e-05
|
|
|
POMT1
|
[NCBI]
|
1.94969e-05
|
|
|
TGFBR1
|
[NCBI]
|
1.94969e-05
|
|
|
ROR2
|
[NCBI]
|
1.94969e-05
|
|
|
APOC2
|
[NCBI]
|
1.90289e-05
|
|
|
PROP1
|
[NCBI]
|
1.90289e-05
|
|
|
FGFR4
|
[NCBI]
|
1.8591e-05
|
|
|
ACY1
|
[NCBI]
|
1.8591e-05
|
|
|
PTHLH
|
[NCBI]
|
1.8279e-05
|
|
|
RIEG1
|
[NCBI]
|
1.82244e-05
|
|
|
EN1
|
[NCBI]
|
1.81796e-05
|
|
|
TBX1
|
[NCBI]
|
1.81796e-05
|
|
|
BGLAP
|
[NCBI]
|
1.78996e-05
|
|
|
LRP5
|
[NCBI]
|
1.77918e-05
|
|
|
FDH
|
[NCBI]
|
1.74673e-05
|
|
|
SJS1
|
[NCBI]
|
1.74673e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
1.74673e-05
|
|
|
NFATC1
|
[NCBI]
|
1.74251e-05
|
|
|
SLC7A5
|
[NCBI]
|
1.74251e-05
|
|
|
TP73L
|
[NCBI]
|
1.74251e-05
|
|
|
FGF2
|
[NCBI]
|
1.71017e-05
|
|
|
ARX
|
[NCBI]
|
1.67467e-05
|
|
|
HAS2
|
[NCBI]
|
1.67467e-05
|
|
|
PHS
|
[NCBI]
|
1.67452e-05
|
|
|
BDNF
|
[NCBI]
|
1.67424e-05
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
1.66263e-05
|
|
|
OSM
|
[NCBI]
|
1.65603e-05
|
|
|
LDHB
|
[NCBI]
|
1.64318e-05
|
|
|
MSD
|
[NCBI]
|
1.60556e-05
|
|
|
PKS
|
[NCBI]
|
1.60556e-05
|
|
|
CDPX2
|
[NCBI]
|
1.60556e-05
|
|
|
ATP7A
|
[NCBI]
|
1.58434e-05
|
|
|
SP7
|
[NCBI]
|
1.58434e-05
|
|
|
POU1F1
|
[NCBI]
|
1.55677e-05
|
|
|
SLC3A2
|
[NCBI]
|
1.50488e-05
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
1.4766e-05
|
|
|
PTPRC
|
[NCBI]
|
1.45682e-05
|
|
|
HMI
|
[NCBI]
|
1.45682e-05
|
|
|
SCDO1
|
[NCBI]
|
1.41623e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
1.39081e-05
|
|
|
RUNX2
|
[NCBI]
|
1.37023e-05
|
|
|
MDD
|
[NCBI]
|
1.36331e-05
|
|
|
CSA
|
[NCBI]
|
1.35839e-05
|
|
|
SMS
|
[NCBI]
|
1.31563e-05
|
|
|
INHBA
|
[NCBI]
|
1.3122e-05
|
|
|
PHEX
|
[NCBI]
|
1.3122e-05
|
|
|
ATS
|
[NCBI]
|
1.30294e-05
|
|
|
AS
|
[NCBI]
|
1.20524e-05
|
|
|
ATD1
|
[NCBI]
|
1.18339e-05
|
|
|
SLC6A6
|
[NCBI]
|
1.16471e-05
|
|
|
COL1A2
|
[NCBI]
|
1.1503e-05
|
|
|
GSR
|
[NCBI]
|
1.13623e-05
|
|
|
HGF
|
[NCBI]
|
1.11752e-05
|
|
|
FLNA
|
[NCBI]
|
1.10902e-05
|
|
|
TRPS2
|
[NCBI]
|
1.10244e-05
|
|
|
CRMO
|
[NCBI]
|
1.10244e-05
|
|
|
COL2A1
|
[NCBI]
|
1.05805e-05
|
|
|
AVP
|
[NCBI]
|
1.05028e-05
|
|
|
palatopharyngeal incompetence
|
[NCBI]
|
9.80919e-06
|
|
|
DSPP
|
[NCBI]
|
9.47131e-06
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
9.31164e-06
|
|
|
PENK
|
[NCBI]
|
9.17632e-06
|
|
|
TNFRSF1A
|
[NCBI]
|
8.3746e-06
|
|
|
EGFR
|
[NCBI]
|
8.35134e-06
|
|
|
temporal arteritis
|
[NCBI]
|
8.29941e-06
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
8.18731e-06
|
|
|
CEACAM5
|
[NCBI]
|
7.84058e-06
|
|
|
VEGF
|
[NCBI]
|
7.0623e-06
|
|
|
GUSB
|
[NCBI]
|
6.93204e-06
|
|
|
PTEN
|
[NCBI]
|
6.62698e-06
|
|
|
CHH
|
[NCBI]
|
6.5692e-06
|
|
|
UCP2
|
[NCBI]
|
6.56817e-06
|
|
|
MFS
|
[NCBI]
|
6.49099e-06
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
6.31829e-06
|
|
|
SLS
|
[NCBI]
|
6.27944e-06
|
|
|
PLAUR
|
[NCBI]
|
6.12174e-06
|
|
|
BMP4
|
[NCBI]
|
5.71386e-06
|
|
|
RBP1
|
[NCBI]
|
5.47621e-06
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
5.21957e-06
|
|
|
SLPI
|
[NCBI]
|
5.12055e-06
|
|
|
AGER
|
[NCBI]
|
5.07807e-06
|
|
|
STAT1
|
[NCBI]
|
4.83171e-06
|
|
|
RB1
|
[NCBI]
|
4.0052e-06
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
3.8501e-06
|
|
|
HP
|
[NCBI]
|
3.46462e-06
|
|
|
AFP
|
[NCBI]
|
3.40234e-06
|
|
|
CDLS1
|
[NCBI]
|
3.32825e-06
|
|
|
EGF
|
[NCBI]
|
2.90925e-06
|
|
|
PWS
|
[NCBI]
|
2.81407e-06
|
|
|
menkes disease
|
[NCBI]
|
2.6696e-06
|
|
|
APOE
|
[NCBI]
|
2.53652e-06
|
|
|
INS
|
[NCBI]
|
2.40792e-06
|
|
|
PCNA
|
[NCBI]
|
2.23039e-06
|
|
|
DGS
|
[NCBI]
|
2.09081e-06
|
|
|
VIP
|
[NCBI]
|
1.4519e-06
|
|
|
TS
|
[NCBI]
|
1.3285e-06
|
|
|
ADA
|
[NCBI]
|
1.25473e-06
|
|
|
PMCH
|
[NCBI]
|
1.22717e-06
|
|
|
WBS
|
[NCBI]
|
9.14628e-07
|
|
|
GJA1
|
[NCBI]
|
7.71639e-07
|
|
|
GTS
|
[NCBI]
|
5.19036e-07
|
|
|
GNRH1
|
[NCBI]
|
4.28299e-07
|
|
|
COMT
|
[NCBI]
|
2.51049e-07
|
|
|
MUC1
|
[NCBI]
|
2.27808e-07
|
|
|
GAL
|
[NCBI]
|
2.20357e-07
|
|
|
BWS
|
[NCBI]
|
1.33381e-07
|
|
|
APOB
|
[NCBI]
|
8.6841e-08
|
|
|
SLOS
|
[NCBI]
|
3.4742e-08
|
|