|
OMIM |
Link |
Information gain |
01 |
|
PTH
|
[NCBI]
|
0.0133405
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.00426259
|
|
|
kabuki syndrome
|
[NCBI]
|
0.00278287
|
|
|
DBQD
|
[NCBI]
|
0.00265388
|
|
|
spondylometaphyseal dysplasia, sedaghatian type
|
[NCBI]
|
0.00250493
|
|
|
cranioectodermal dysplasia
|
[NCBI]
|
0.0021204
|
|
|
bruck syndrome 1
|
[NCBI]
|
0.00200577
|
|
|
BGLAP
|
[NCBI]
|
0.00195674
|
|
|
TNFRSF11B
|
[NCBI]
|
0.00180838
|
|
|
ACG1A
|
[NCBI]
|
0.00176308
|
|
|
lateral meningocele syndrome
|
[NCBI]
|
0.00176092
|
|
|
kbg syndrome
|
[NCBI]
|
0.00176092
|
|
|
metatropic dwarfism
|
[NCBI]
|
0.00166855
|
|
|
ACP5
|
[NCBI]
|
0.00159269
|
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.00158828
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.00157724
|
|
|
spondylometaphyseal dysplasia, corner fracture type
|
[NCBI]
|
0.00124565
|
|
|
VDEGS
|
[NCBI]
|
0.00105751
|
|
|
CRMO
|
[NCBI]
|
0.0010388
|
|
|
opsismodysplasia
|
[NCBI]
|
0.000930076
|
|
|
SLE
|
[NCBI]
|
0.000890864
|
|
|
NLS
|
[NCBI]
|
0.000843585
|
|
|
CMDR
|
[NCBI]
|
0.0008337
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.0008337
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
0.0008337
|
|
|
oslam syndrome
|
[NCBI]
|
0.000833572
|
|
|
umbilicus, familial flat
|
[NCBI]
|
0.000833572
|
|
|
dentin dysplasia with sclerotic bones
|
[NCBI]
|
0.000833572
|
|
|
bone size quantitative trait locus 3
|
[NCBI]
|
0.000833572
|
|
|
pseudohermaphroditism, female, with skeletal anomalies
|
[NCBI]
|
0.000833572
|
|
|
coloboma of macula
|
[NCBI]
|
0.000833572
|
|
|
czech dysplasia, metatarsal type
|
[NCBI]
|
0.000833572
|
|
|
microcephalic osteodysplastic primordial dwarfism with tooth abnormalities
|
[NCBI]
|
0.000833572
|
|
|
CF
|
[NCBI]
|
0.000771677
|
|
|
MAS
|
[NCBI]
|
0.000715156
|
|
|
VDR
|
[NCBI]
|
0.000699042
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.000692202
|
|
|
short rib-polydactyly syndrome, type iii
|
[NCBI]
|
0.000692202
|
|
|
proteus syndrome
|
[NCBI]
|
0.000670924
|
|
|
omodysplasia, generalized form
|
[NCBI]
|
0.000637409
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.000637409
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000637409
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.000637409
|
|
|
paget disease, juvenile
|
[NCBI]
|
0.000599876
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000589798
|
|
|
campomelic dysplasia
|
[NCBI]
|
0.000567842
|
|
|
TD1
|
[NCBI]
|
0.00056048
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
0.000557408
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.000547831
|
|
|
metaphyseal acroscyphodysplasia
|
[NCBI]
|
0.000528088
|
|
|
anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
|
[NCBI]
|
0.000528088
|
|
|
humeroradial synostosis
|
[NCBI]
|
0.000528088
|
|
|
osteogenesis imperfecta, type v
|
[NCBI]
|
0.000528088
|
|
|
triphalangeal thumb, nonopposable
|
[NCBI]
|
0.000528088
|
|
|
zinc, elevated plasma
|
[NCBI]
|
0.000528088
|
|
|
acropectorovertebral dysplasia, f-form of
|
[NCBI]
|
0.000528088
|
|
|
osteodysplasia, familial, anderson type
|
[NCBI]
|
0.000528088
|
|
|
pseudohypoparathyroidism, type ii
|
[NCBI]
|
0.000528088
|
|
|
myopathy, limb-girdle, with bone fragility
|
[NCBI]
|
0.000528088
|
|
|
OSCS
|
[NCBI]
|
0.000510421
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
0.000497582
|
|
|
SPP1
|
[NCBI]
|
0.000497074
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000482905
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
0.000454691
|
|
|
ATD1
|
[NCBI]
|
0.00044654
|
|
|
AD
|
[NCBI]
|
0.000443969
|
|
|
COFS1
|
[NCBI]
|
0.000442747
|
|
|
trichodentoosseous syndrome
|
[NCBI]
|
0.00042804
|
|
|
AMDM
|
[NCBI]
|
0.000418267
|
|
|
SEMDJL
|
[NCBI]
|
0.000416217
|
|
|
microcephalic osteodysplastic primordial dwarfism, type iii
|
[NCBI]
|
0.000416217
|
|
|
spondylometaphyseal dysplasia, kozlowski type
|
[NCBI]
|
0.000416217
|
|
|
letterer-siwe disease
|
[NCBI]
|
0.000416217
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
0.00040283
|
|
|
osteoporosis
|
[NCBI]
|
0.000397488
|
|
|
hypophosphatasia, adult type
|
[NCBI]
|
0.000379576
|
|
|
MNS
|
[NCBI]
|
0.000370097
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000369409
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
0.000365951
|
|
|
anauxetic dysplasia
|
[NCBI]
|
0.000354907
|
|
|
al-gazali syndrome
|
[NCBI]
|
0.000354907
|
|
|
RA
|
[NCBI]
|
0.000354146
|
|
|
IHH
|
[NCBI]
|
0.000352002
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
0.0003455
|
|
|
brachydactyly-mental retardation syndrome
|
[NCBI]
|
0.0003455
|
|
|
pyle disease
|
[NCBI]
|
0.0003455
|
|
|
spondyloepimetaphyseal dysplasia with multiple dislocations
|
[NCBI]
|
0.0003455
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.0003455
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.0003455
|
|
|
dentin dysplasia, type i
|
[NCBI]
|
0.0003455
|
|
|
campomelia, cumming type
|
[NCBI]
|
0.0003455
|
|
|
cenani syndactylism
|
[NCBI]
|
0.0003455
|
|
|
costovertebral segmentation anomalies
|
[NCBI]
|
0.0003455
|
|
|
NGFB
|
[NCBI]
|
0.000342207
|
|
|
osteoporosis, juvenile
|
[NCBI]
|
0.000339153
|
|
|
acromesomelic dysplasia, hunter-thompson type
|
[NCBI]
|
0.000339153
|
|
|
SPARC
|
[NCBI]
|
0.000325122
|
|
|
PPAC
|
[NCBI]
|
0.000305148
|
|
|
multiple pterygium syndrome, lethal type
|
[NCBI]
|
0.000300297
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
0.00029433
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.00029433
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.00029433
|
|
|
acromegaloid facial appearance syndrome
|
[NCBI]
|
0.00029433
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.00029433
|
|
|
HCH
|
[NCBI]
|
0.000279596
|
|
|
OD
|
[NCBI]
|
0.000274728
|
|
|
ACG2
|
[NCBI]
|
0.000272056
|
|
|
EGF
|
[NCBI]
|
0.000269602
|
|
|
kniest dysplasia
|
[NCBI]
|
0.000260371
|
|
|
HMN1
|
[NCBI]
|
0.000254673
|
|
|
HBD
|
[NCBI]
|
0.000254673
|
|
|
short rib-polydactyly syndrome, type i
|
[NCBI]
|
0.000254673
|
|
|
fibrochondrogenesis
|
[NCBI]
|
0.000254673
|
|
|
OSCS
|
[NCBI]
|
0.000254673
|
|
|
osteogenesis imperfecta, type iii
|
[NCBI]
|
0.000249873
|
|
|
osteogenesis imperfecta, type iv
|
[NCBI]
|
0.000249873
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
0.000240348
|
|
|
OPD2
|
[NCBI]
|
0.000240348
|
|
|
FMD
|
[NCBI]
|
0.000240348
|
|
|
EVC
|
[NCBI]
|
0.000240239
|
|
|
AOII
|
[NCBI]
|
0.000238389
|
|
|
HHRH
|
[NCBI]
|
0.000238389
|
|
|
codas syndrome
|
[NCBI]
|
0.000236569
|
|
|
acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
|
[NCBI]
|
0.000236569
|
|
|
bruck syndrome 2
|
[NCBI]
|
0.000236569
|
|
|
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
|
[NCBI]
|
0.000236569
|
|
|
BCNS
|
[NCBI]
|
0.000229378
|
|
|
SJS1
|
[NCBI]
|
0.000224473
|
|
|
vitamin d-dependent rickets, type ii
|
[NCBI]
|
0.000224473
|
|
|
PTHLH
|
[NCBI]
|
0.000224159
|
|
|
HGPS
|
[NCBI]
|
0.00022294
|
|
|
MEAX
|
[NCBI]
|
0.000222623
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000222623
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.000222623
|
|
|
OFD4
|
[NCBI]
|
0.000222623
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.000222623
|
|
|
acrodysostosis
|
[NCBI]
|
0.000222623
|
|
|
BMND3
|
[NCBI]
|
0.000222623
|
|
|
stiff skin syndrome
|
[NCBI]
|
0.000222623
|
|
|
ACH
|
[NCBI]
|
0.000216543
|
|
|
HOS
|
[NCBI]
|
0.000212768
|
|
|
PRL
|
[NCBI]
|
0.000210237
|
|
|
SDS
|
[NCBI]
|
0.000206397
|
|
|
AOI
|
[NCBI]
|
0.000195228
|
|
|
ALPL
|
[NCBI]
|
0.000185549
|
|
|
kniest-like dysplasia with pursed lips and ectopia lentis
|
[NCBI]
|
0.000182905
|
|
|
hutterite cerebroosteonephrodysplasia syndrome
|
[NCBI]
|
0.000182905
|
|
|
metaphyseal dysplasia without hypotrichosis
|
[NCBI]
|
0.000182905
|
|
|
alopecia-contractures-dwarfism mental retardation syndrome
|
[NCBI]
|
0.000182905
|
|
|
baculum, congenital absence of
|
[NCBI]
|
0.000182905
|
|
|
carnevale syndrome
|
[NCBI]
|
0.000182905
|
|
|
AOIII
|
[NCBI]
|
0.000182905
|
|
|
fountain syndrome
|
[NCBI]
|
0.000182905
|
|
|
GFAP
|
[NCBI]
|
0.000175625
|
|
|
hemophagocytic lymphohistiocytosis, familial, 1
|
[NCBI]
|
0.000173794
|
|
|
TH
|
[NCBI]
|
0.000169778
|
|
|
DMC
|
[NCBI]
|
0.00016766
|
|
|
NPS
|
[NCBI]
|
0.000167362
|
|
|
CCD
|
[NCBI]
|
0.000166674
|
|
|
ACHE
|
[NCBI]
|
0.000164788
|
|
|
rapadilino syndrome
|
[NCBI]
|
0.000158892
|
|
|
WS3
|
[NCBI]
|
0.000158892
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.000153921
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
0.000153921
|
|
|
camurati-engelmann disease
|
[NCBI]
|
0.000147498
|
|
|
CHH
|
[NCBI]
|
0.000145862
|
|
|
AHO
|
[NCBI]
|
0.000143463
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
0.000142544
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
0.000142544
|
|
|
renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia
|
[NCBI]
|
0.000142544
|
|
|
EGFR
|
[NCBI]
|
0.000141738
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
0.000140652
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
0.000138442
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
0.000137486
|
|
|
SCDO1
|
[NCBI]
|
0.000137486
|
|
|
SHFLD1
|
[NCBI]
|
0.000136968
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000136968
|
|
|
CMDD
|
[NCBI]
|
0.000136589
|
|
|
LRS1
|
[NCBI]
|
0.000136589
|
|
|
FGF23
|
[NCBI]
|
0.000135911
|
|
|
TNF
|
[NCBI]
|
0.000135844
|
|
|
FOP
|
[NCBI]
|
0.000134432
|
|
|
ABS
|
[NCBI]
|
0.000131697
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
0.000130119
|
|
|
OSMED
|
[NCBI]
|
0.000130119
|
|
|
caffey disease
|
[NCBI]
|
0.000130119
|
|
|
MCDS
|
[NCBI]
|
0.000130119
|
|
|
boomerang dysplasia
|
[NCBI]
|
0.000130119
|
|
|
NPY
|
[NCBI]
|
0.00012972
|
|
|
FIH
|
[NCBI]
|
0.000127121
|
|
|
FGFR3
|
[NCBI]
|
0.000126658
|
|
|
HFTC
|
[NCBI]
|
0.000122825
|
|
|
HGF
|
[NCBI]
|
0.0001227
|
|
|
SHFM3
|
[NCBI]
|
0.000122065
|
|
|
TRPS2
|
[NCBI]
|
0.000120615
|
|
|
metaphyseal chondrodysplasia, jansen type
|
[NCBI]
|
0.000120108
|
|
|
LDS
|
[NCBI]
|
0.000120108
|
|
|
OPTA2
|
[NCBI]
|
0.000120108
|
|
|
MFS2
|
[NCBI]
|
0.000120108
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
0.000120108
|
|
|
ADHR
|
[NCBI]
|
0.000120108
|
|
|
OPTB1
|
[NCBI]
|
0.000118779
|
|
|
lethal short-limb skeletal dysplasia, al gazali type
|
[NCBI]
|
0.000118267
|
|
|
spondylometaphyseal dysplasia, axial
|
[NCBI]
|
0.000118267
|
|
|
cortical defects, wormian bones, and dentinogenesis imperfecta
|
[NCBI]
|
0.000118267
|
|
|
spondyloepimetaphyseal dysplasia, matrilin-3 related
|
[NCBI]
|
0.000118267
|
|
|
microcephaly with cervical spine fusion anomalies
|
[NCBI]
|
0.000118267
|
|
|
distal osteosclerosis
|
[NCBI]
|
0.000118267
|
|
|
iridogoniodysgenesis and skeletal anomalies
|
[NCBI]
|
0.000118267
|
|
|
multiple epiphyseal dysplasia with robin phenotype
|
[NCBI]
|
0.000118267
|
|
|
pyknoachondrogenesis
|
[NCBI]
|
0.000118267
|
|
|
brittle bone disorder
|
[NCBI]
|
0.000118267
|
|
|
otofacioosseous-gonadal syndrome
|
[NCBI]
|
0.000118267
|
|
|
thoracic dysostosis, isolated
|
[NCBI]
|
0.000118267
|
|
|
spondyloepiphyseal dysplasia, myopia, and sensorineural deafness
|
[NCBI]
|
0.000118267
|
|
|
microcephaly, severe, with skeletal anomalies including posterior rib-gap defects
|
[NCBI]
|
0.000118267
|
|
|
eiken skeletal dysplasia
|
[NCBI]
|
0.000118267
|
|
|
malpuech facial clefting syndrome
|
[NCBI]
|
0.000118267
|
|
|
scarf syndrome
|
[NCBI]
|
0.000118267
|
|
|
megaepiphyseal dwarfism
|
[NCBI]
|
0.000118267
|
|
|
osteosclerotic chondrodysplasia, lethal, with intracellular inclusions
|
[NCBI]
|
0.000118267
|
|
|
acrorenal syndrome
|
[NCBI]
|
0.000118267
|
|
|
lowry-maclean syndrome
|
[NCBI]
|
0.000118267
|
|
|
expansile bone lesions
|
[NCBI]
|
0.000118267
|
|
|
skeletal dysplasia and progressive central nervous system degeneration, lethal
|
[NCBI]
|
0.000118267
|
|
|
baby rattle pelvis dysplasia
|
[NCBI]
|
0.000118267
|
|
|
brachioskeletogenital syndrome
|
[NCBI]
|
0.000118267
|
|
|
incisors, lower central, absence of
|
[NCBI]
|
0.000118267
|
|
|
beemer lethal malformation syndrome
|
[NCBI]
|
0.000118267
|
|
|
cataract, membranous
|
[NCBI]
|
0.000118267
|
|
|
dextrocardia with unusual facies and microphthalmia
|
[NCBI]
|
0.000118267
|
|
|
lentiginosis, centrofacial neurodysraphic
|
[NCBI]
|
0.000118267
|
|
|
metaphyseal chondrodysplasia, pena type
|
[NCBI]
|
0.000118267
|
|
|
GDF5
|
[NCBI]
|
0.000116496
|
|
|
TNFSF11
|
[NCBI]
|
0.000114544
|
|
|
osseous heteroplasia, progressive
|
[NCBI]
|
0.000111741
|
|
|
disorganization, mouse, homolog of
|
[NCBI]
|
0.000111741
|
|
|
TRPS1
|
[NCBI]
|
0.000111341
|
|
|
CPX
|
[NCBI]
|
0.000111341
|
|
|
OPTB3
|
[NCBI]
|
0.000104567
|
|
|
RNS
|
[NCBI]
|
0.000104567
|
|
|
pycnodysostosis
|
[NCBI]
|
0.000104567
|
|
|
immunoosseous dysplasia, schimke type
|
[NCBI]
|
0.000104567
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
0.000104567
|
|
|
SRS
|
[NCBI]
|
0.000104233
|
|
|
ALGS1
|
[NCBI]
|
0.000102448
|
|
|
SHOX
|
[NCBI]
|
0.000102365
|
|
|
BMP5
|
[NCBI]
|
0.000100541
|
|
|
DA2A
|
[NCBI]
|
9.8571e-05
|
|
|
buschke-ollendorff syndrome
|
[NCBI]
|
9.83005e-05
|
|
|
PCNA
|
[NCBI]
|
9.65433e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
9.30224e-05
|
|
|
SOST
|
[NCBI]
|
9.27465e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
9.27465e-05
|
|
|
SYNS1
|
[NCBI]
|
9.27465e-05
|
|
|
EPO
|
[NCBI]
|
9.17366e-05
|
|
|
COL2A1
|
[NCBI]
|
8.9046e-05
|
|
|
FOS
|
[NCBI]
|
8.84796e-05
|
|
|
LWD
|
[NCBI]
|
8.79261e-05
|
|
|
COMP
|
[NCBI]
|
8.79239e-05
|
|
|
MATN3
|
[NCBI]
|
8.67014e-05
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
8.65995e-05
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
8.65995e-05
|
|
|
KLK3
|
[NCBI]
|
8.58519e-05
|
|
|
RCDP1
|
[NCBI]
|
8.55284e-05
|
|
|
COL1A1
|
[NCBI]
|
8.46151e-05
|
|
|
RTS
|
[NCBI]
|
8.10022e-05
|
|
|
RMRP
|
[NCBI]
|
8.02962e-05
|
|
|
fascial dystrophy, congenital
|
[NCBI]
|
7.94285e-05
|
|
|
dysplasia epiphysealis hemimelica
|
[NCBI]
|
7.94285e-05
|
|
|
achard syndrome
|
[NCBI]
|
7.94285e-05
|
|
|
hydrocephalus, skeletal anomalies, and mental disturbance
|
[NCBI]
|
7.94285e-05
|
|
|
velofacioskeletal syndrome
|
[NCBI]
|
7.94285e-05
|
|
|
metaphyseal anadysplasia
|
[NCBI]
|
7.94285e-05
|
|
|
ulna metaphyseal dysplasia syndrome
|
[NCBI]
|
7.94285e-05
|
|
|
body length, mouse, human homolog
|
[NCBI]
|
7.94285e-05
|
|
|
S PEAK SYNDROME
|
[NCBI]
|
7.94285e-05
|
|
|
hirsutism--skeletal dysplasia--mental retardation syndrome
|
[NCBI]
|
7.94285e-05
|
|
|
spinal muscular atrophy, type i, with congenital bone fractures
|
[NCBI]
|
7.94285e-05
|
|
|
choroidal osteoma, bilateral
|
[NCBI]
|
7.94285e-05
|
|
|
stratton-parker syndrome
|
[NCBI]
|
7.94285e-05
|
|
|
pallister w syndrome
|
[NCBI]
|
7.94285e-05
|
|
|
multiple pterygium syndrome, aslan type
|
[NCBI]
|
7.94285e-05
|
|
|
NSX
|
[NCBI]
|
7.94285e-05
|
|
|
chondrocalcinosis due to apatite crystal deposition
|
[NCBI]
|
7.94285e-05
|
|
|
creases, infra-auricular cutaneous, with tall stature and advanced bone age
|
[NCBI]
|
7.94285e-05
|
|
|
osteopetrosis and infantile neuroaxonal dystrophy
|
[NCBI]
|
7.94285e-05
|
|
|
pterygium syndrome, multiple, x-linked
|
[NCBI]
|
7.94285e-05
|
|
|
uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
|
[NCBI]
|
7.94285e-05
|
|
|
VIP
|
[NCBI]
|
7.78921e-05
|
|
|
CFTR
|
[NCBI]
|
7.75243e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
7.59674e-05
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
7.53882e-05
|
|
|
NPPA
|
[NCBI]
|
7.49388e-05
|
|
|
STC1
|
[NCBI]
|
7.48665e-05
|
|
|
VEGF
|
[NCBI]
|
7.44675e-05
|
|
|
PDB
|
[NCBI]
|
7.19111e-05
|
|
|
CASR
|
[NCBI]
|
7.14143e-05
|
|
|
DLX3
|
[NCBI]
|
7.13198e-05
|
|
|
CGL2
|
[NCBI]
|
6.86875e-05
|
|
|
RUNX2
|
[NCBI]
|
6.81691e-05
|
|
|
CAT
|
[NCBI]
|
6.80214e-05
|
|
|
alkaline phosphatase, elevated serum
|
[NCBI]
|
6.73756e-05
|
|
|
PLOSL
|
[NCBI]
|
6.56867e-05
|
|
|
LRP5
|
[NCBI]
|
6.53531e-05
|
|
|
mucopolysaccharidoses, unclassified types
|
[NCBI]
|
6.50426e-05
|
|
|
osteogenesis imperfecta, type iib
|
[NCBI]
|
6.50426e-05
|
|
|
hypophosphatemic rickets, autosomal recessive
|
[NCBI]
|
6.50426e-05
|
|
|
OPTA1
|
[NCBI]
|
6.50426e-05
|
|
|
EDM2
|
[NCBI]
|
6.50426e-05
|
|
|
gombo syndrome
|
[NCBI]
|
6.50426e-05
|
|
|
langerhans cell histiocytosis
|
[NCBI]
|
6.50426e-05
|
|
|
brachymorphism-onychodysplasia-dysphalangism syndrome
|
[NCBI]
|
6.50426e-05
|
|
|
osteogenesis imperfecta, type vii
|
[NCBI]
|
6.50426e-05
|
|
|
pacman dysplasia
|
[NCBI]
|
6.50426e-05
|
|
|
camptodactyly, tall stature, and hearing loss syndrome
|
[NCBI]
|
6.50426e-05
|
|
|
rhizomelic dysplasia, patterson-lowry type
|
[NCBI]
|
6.50426e-05
|
|
|
melorheostosis
|
[NCBI]
|
6.50426e-05
|
|
|
spondyloepimetaphyseal dysplasia, type ii
|
[NCBI]
|
6.50426e-05
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
6.28829e-05
|
|
|
STL1
|
[NCBI]
|
6.28829e-05
|
|
|
DSPP
|
[NCBI]
|
6.26635e-05
|
|
|
F3
|
[NCBI]
|
6.16108e-05
|
|
|
SOST
|
[NCBI]
|
6.02166e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
5.77844e-05
|
|
|
OGN
|
[NCBI]
|
5.75471e-05
|
|
|
NOG
|
[NCBI]
|
5.58564e-05
|
|
|
weyers acrofacial dysostosis
|
[NCBI]
|
5.58543e-05
|
|
|
gorlin-chaudhry-moss syndrome
|
[NCBI]
|
5.58543e-05
|
|
|
weill-marchesani syndrome, autosomal dominant
|
[NCBI]
|
5.58543e-05
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
5.58543e-05
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
5.58543e-05
|
|
|
WZS
|
[NCBI]
|
5.58543e-05
|
|
|
pseudodiastrophic dysplasia
|
[NCBI]
|
5.58543e-05
|
|
|
shprintzen-goldberg craniosynostosis syndrome
|
[NCBI]
|
5.58543e-05
|
|
|
PLSDT
|
[NCBI]
|
5.58543e-05
|
|
|
AIHHT
|
[NCBI]
|
5.58543e-05
|
|
|
camptomelic syndrome, long-limb type
|
[NCBI]
|
5.58543e-05
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
5.58543e-05
|
|
|
mental retardation with epilepsy and characteristic facies
|
[NCBI]
|
5.58543e-05
|
|
|
achondroplasia, so-called, and severe combined immunodeficiency
|
[NCBI]
|
5.58543e-05
|
|
|
oculopalatoskeletal syndrome
|
[NCBI]
|
5.58543e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
5.54562e-05
|
|
|
TNFRSF11A
|
[NCBI]
|
5.51885e-05
|
|
|
ALPI
|
[NCBI]
|
5.51885e-05
|
|
|
PTHR1
|
[NCBI]
|
5.4745e-05
|
|
|
PFM
|
[NCBI]
|
5.32569e-05
|
|
|
IL6ST
|
[NCBI]
|
4.94226e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
4.92007e-05
|
|
|
EDM4
|
[NCBI]
|
4.91346e-05
|
|
|
RCDP2
|
[NCBI]
|
4.91346e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
4.91346e-05
|
|
|
HOMG2
|
[NCBI]
|
4.91346e-05
|
|
|
GCS1
|
[NCBI]
|
4.91346e-05
|
|
|
ACG1B
|
[NCBI]
|
4.91346e-05
|
|
|
PFM2
|
[NCBI]
|
4.91346e-05
|
|
|
SMC
|
[NCBI]
|
4.91346e-05
|
|
|
OPTB5
|
[NCBI]
|
4.91346e-05
|
|
|
atransferrinemia
|
[NCBI]
|
4.91346e-05
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
4.91346e-05
|
|
|
schneckenbecken dysplasia
|
[NCBI]
|
4.91346e-05
|
|
|
POSTN
|
[NCBI]
|
4.75428e-05
|
|
|
GDF6
|
[NCBI]
|
4.75428e-05
|
|
|
SHOX2
|
[NCBI]
|
4.75428e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
4.66852e-05
|
|
|
CPI
|
[NCBI]
|
4.40136e-05
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
4.38688e-05
|
|
|
BOCD
|
[NCBI]
|
4.38688e-05
|
|
|
uniparental disomy, paternal, chromosome 14
|
[NCBI]
|
4.38688e-05
|
|
|
cleft lip/palate with abnormal thumbs and microcephaly
|
[NCBI]
|
4.38688e-05
|
|
|
BDE
|
[NCBI]
|
4.38688e-05
|
|
|
bowing of legs, anterior, with dwarfism
|
[NCBI]
|
4.38688e-05
|
|
|
OPPG
|
[NCBI]
|
4.38688e-05
|
|
|
por deficiency
|
[NCBI]
|
4.38688e-05
|
|
|
BGN
|
[NCBI]
|
4.35393e-05
|
|
|
NPR2
|
[NCBI]
|
4.33432e-05
|
|
|
FDH
|
[NCBI]
|
4.22162e-05
|
|
|
CD
|
[NCBI]
|
4.22152e-05
|
|
|
costello syndrome
|
[NCBI]
|
4.06657e-05
|
|
|
HHC1
|
[NCBI]
|
4.06657e-05
|
|
|
NPPC
|
[NCBI]
|
4.01407e-05
|
|
|
COL9A2
|
[NCBI]
|
4.01407e-05
|
|
|
NPR3
|
[NCBI]
|
4.01407e-05
|
|
|
nephrosialidosis
|
[NCBI]
|
3.95637e-05
|
|
|
sulfocysteinuria
|
[NCBI]
|
3.95637e-05
|
|
|
ehlers-danlos syndrome, type vii, autosomal dominant
|
[NCBI]
|
3.95637e-05
|
|
|
WT5
|
[NCBI]
|
3.95637e-05
|
|
|
BMND1
|
[NCBI]
|
3.95637e-05
|
|
|
IBMPFD
|
[NCBI]
|
3.95637e-05
|
|
|
marshall-smith syndrome
|
[NCBI]
|
3.95637e-05
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
3.92534e-05
|
|
|
TGFBR2
|
[NCBI]
|
3.73595e-05
|
|
|
TBS
|
[NCBI]
|
3.64019e-05
|
|
|
ACPP
|
[NCBI]
|
3.62849e-05
|
|
|
GDD
|
[NCBI]
|
3.59414e-05
|
|
|
OGD
|
[NCBI]
|
3.59414e-05
|
|
|
BRIC1
|
[NCBI]
|
3.59414e-05
|
|
|
catel-manzke syndrome
|
[NCBI]
|
3.59414e-05
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
3.59414e-05
|
|
|
SPG17
|
[NCBI]
|
3.59414e-05
|
|
|
murcs association
|
[NCBI]
|
3.59414e-05
|
|
|
TD2
|
[NCBI]
|
3.59414e-05
|
|
|
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
|
[NCBI]
|
3.59414e-05
|
|
|
ZMPSTE24
|
[NCBI]
|
3.5381e-05
|
|
|
CYP19A1
|
[NCBI]
|
3.4485e-05
|
|
|
WDR8
|
[NCBI]
|
3.36859e-05
|
|
|
COL24A1
|
[NCBI]
|
3.36859e-05
|
|
|
CXORF15
|
[NCBI]
|
3.36859e-05
|
|
|
HTX1
|
[NCBI]
|
3.28297e-05
|
|
|
morquio syndrome b
|
[NCBI]
|
3.28297e-05
|
|
|
sotos syndrome
|
[NCBI]
|
3.26388e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
3.26388e-05
|
|
|
MBS
|
[NCBI]
|
3.22117e-05
|
|
|
GNRH1
|
[NCBI]
|
3.20437e-05
|
|
|
FGFR2
|
[NCBI]
|
3.18833e-05
|
|
|
FGF18
|
[NCBI]
|
3.18762e-05
|
|
|
SLC26A2
|
[NCBI]
|
3.18762e-05
|
|
|
ESR1
|
[NCBI]
|
3.14427e-05
|
|
|
APOE
|
[NCBI]
|
3.07451e-05
|
|
|
LYZ
|
[NCBI]
|
3.04202e-05
|
|
|
TREM2
|
[NCBI]
|
3.04202e-05
|
|
|
FLNB
|
[NCBI]
|
3.04202e-05
|
|
|
TYROBP
|
[NCBI]
|
3.04202e-05
|
|
|
PAPSS2
|
[NCBI]
|
3.04202e-05
|
|
|
HOMG
|
[NCBI]
|
3.01143e-05
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
3.01143e-05
|
|
|
BDB1
|
[NCBI]
|
3.01143e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
3.01143e-05
|
|
|
CEACAM5
|
[NCBI]
|
2.97428e-05
|
|
|
RUNX3
|
[NCBI]
|
2.91105e-05
|
|
|
PAX1
|
[NCBI]
|
2.91105e-05
|
|
|
CNTF
|
[NCBI]
|
2.88438e-05
|
|
|
SLOS
|
[NCBI]
|
2.88018e-05
|
|
|
LMNA
|
[NCBI]
|
2.87827e-05
|
|
|
PHEX
|
[NCBI]
|
2.83716e-05
|
|
|
RSTS
|
[NCBI]
|
2.82607e-05
|
|
|
TG
|
[NCBI]
|
2.80356e-05
|
|
|
IRID1
|
[NCBI]
|
2.77154e-05
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
2.77154e-05
|
|
|
myotonia congenita, autosomal dominant
|
[NCBI]
|
2.77154e-05
|
|
|
HSS
|
[NCBI]
|
2.77154e-05
|
|
|
HEPOD
|
[NCBI]
|
2.77154e-05
|
|
|
PDP
|
[NCBI]
|
2.77154e-05
|
|
|
SPDA1
|
[NCBI]
|
2.77154e-05
|
|
|
LADD
|
[NCBI]
|
2.77154e-05
|
|
|
NSHPT
|
[NCBI]
|
2.77154e-05
|
|
|
DSMA1
|
[NCBI]
|
2.77154e-05
|
|
|
ROR2
|
[NCBI]
|
2.58311e-05
|
|
|
MMP13
|
[NCBI]
|
2.58311e-05
|
|
|
COL10A1
|
[NCBI]
|
2.58311e-05
|
|
|
G6PD
|
[NCBI]
|
2.57294e-05
|
|
|
vitamin d-dependent rickets, type i
|
[NCBI]
|
2.55753e-05
|
|
|
EDM1
|
[NCBI]
|
2.55753e-05
|
|
|
KAL2
|
[NCBI]
|
2.55753e-05
|
|
|
omenn syndrome
|
[NCBI]
|
2.55753e-05
|
|
|
FFS
|
[NCBI]
|
2.55753e-05
|
|
|
HMN5
|
[NCBI]
|
2.55753e-05
|
|
|
HPE2
|
[NCBI]
|
2.55753e-05
|
|
|
hurler-scheie syndrome
|
[NCBI]
|
2.55753e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
2.49272e-05
|
|
|
AIC
|
[NCBI]
|
2.41645e-05
|
|
|
GAPDH
|
[NCBI]
|
2.40942e-05
|
|
|
TBX5
|
[NCBI]
|
2.40394e-05
|
|
|
scleraxis
|
[NCBI]
|
2.37695e-05
|
|
|
HELZ
|
[NCBI]
|
2.37695e-05
|
|
|
ALX3
|
[NCBI]
|
2.37695e-05
|
|
|
HOXC13
|
[NCBI]
|
2.37695e-05
|
|
|
GCM2
|
[NCBI]
|
2.37695e-05
|
|
|
KAZALD1
|
[NCBI]
|
2.37695e-05
|
|
|
CEMP1
|
[NCBI]
|
2.37695e-05
|
|
|
MRX49
|
[NCBI]
|
2.37695e-05
|
|
|
COL1A2
|
[NCBI]
|
2.36794e-05
|
|
|
BDC
|
[NCBI]
|
2.36507e-05
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
2.36507e-05
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
2.36507e-05
|
|
|
CIPA
|
[NCBI]
|
2.36507e-05
|
|
|
FOXC1
|
[NCBI]
|
2.24755e-05
|
|
|
XDH
|
[NCBI]
|
2.24048e-05
|
|
|
TS
|
[NCBI]
|
2.20923e-05
|
|
|
LPI
|
[NCBI]
|
2.19768e-05
|
|
|
diabetes insipidus, neurohypophyseal type
|
[NCBI]
|
2.19083e-05
|
|
|
potocki-shaffer syndrome
|
[NCBI]
|
2.19083e-05
|
|
|
weaver syndrome
|
[NCBI]
|
2.19083e-05
|
|
|
SYM1
|
[NCBI]
|
2.19083e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
2.17632e-05
|
|
|
GNAS
|
[NCBI]
|
2.10573e-05
|
|
|
FRNS
|
[NCBI]
|
2.07198e-05
|
|
|
ADA
|
[NCBI]
|
2.04402e-05
|
|
|
feingold syndrome
|
[NCBI]
|
2.0322e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
2.0322e-05
|
|
|
ichthyosis congenita, harlequin fetus type
|
[NCBI]
|
2.0322e-05
|
|
|
TCF15
|
[NCBI]
|
2.00685e-05
|
|
|
SPP2
|
[NCBI]
|
2.00685e-05
|
|
|
BMP8
|
[NCBI]
|
2.00685e-05
|
|
|
OSTN
|
[NCBI]
|
2.00685e-05
|
|
|
SLC35D1
|
[NCBI]
|
2.00685e-05
|
|
|
MDFI
|
[NCBI]
|
2.00685e-05
|
|
|
TLL2
|
[NCBI]
|
2.00685e-05
|
|
|
GDF3
|
[NCBI]
|
2.00685e-05
|
|
|
PHC1
|
[NCBI]
|
2.00685e-05
|
|
|
HOXA11
|
[NCBI]
|
2.00685e-05
|
|
|
TLL1
|
[NCBI]
|
2.00685e-05
|
|
|
WIF1
|
[NCBI]
|
2.00685e-05
|
|
|
ACCN4
|
[NCBI]
|
2.00685e-05
|
|
|
OSR2
|
[NCBI]
|
2.00685e-05
|
|
|
TNA
|
[NCBI]
|
2.00685e-05
|
|
|
DLK1
|
[NCBI]
|
1.98517e-05
|
|
|
CLS
|
[NCBI]
|
1.97129e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
1.90069e-05
|
|
|
graves disease
|
[NCBI]
|
1.88709e-05
|
|
|
SP7
|
[NCBI]
|
1.87322e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
1.83236e-05
|
|
|
WDR5
|
[NCBI]
|
1.76887e-05
|
|
|
MKRN1
|
[NCBI]
|
1.76887e-05
|
|
|
PLOD2
|
[NCBI]
|
1.76887e-05
|
|
|
TM7SF4
|
[NCBI]
|
1.76887e-05
|
|
|
ROR1
|
[NCBI]
|
1.76887e-05
|
|
|
WISP3
|
[NCBI]
|
1.76887e-05
|
|
|
ATP6V1B2
|
[NCBI]
|
1.76887e-05
|
|
|
UGT2B7
|
[NCBI]
|
1.76887e-05
|
|
|
TRAF4
|
[NCBI]
|
1.76887e-05
|
|
|
TBX19
|
[NCBI]
|
1.76887e-05
|
|
|
alkaline phosphatase, intestinal, fetal form
|
[NCBI]
|
1.76887e-05
|
|
|
HOXB8
|
[NCBI]
|
1.76887e-05
|
|
|
GDF10
|
[NCBI]
|
1.76887e-05
|
|
|
CDX1
|
[NCBI]
|
1.76887e-05
|
|
|
SF3B1
|
[NCBI]
|
1.76887e-05
|
|
|
LTBP3
|
[NCBI]
|
1.76887e-05
|
|
|
PSACH
|
[NCBI]
|
1.76621e-05
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
1.75382e-05
|
|
|
abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
|
[NCBI]
|
1.75382e-05
|
|
|
SLSN1
|
[NCBI]
|
1.75382e-05
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
1.75382e-05
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
1.75382e-05
|
|
|
BMP4
|
[NCBI]
|
1.66209e-05
|
|
|
CTRC
|
[NCBI]
|
1.59363e-05
|
|
|
GDF7
|
[NCBI]
|
1.59363e-05
|
|
|
HOXB2
|
[NCBI]
|
1.59363e-05
|
|
|
ATP6V1B1
|
[NCBI]
|
1.59363e-05
|
|
|
GCM1
|
[NCBI]
|
1.59363e-05
|
|
|
CRTAP
|
[NCBI]
|
1.59363e-05
|
|
|
HIVEP3
|
[NCBI]
|
1.59363e-05
|
|
|
PMX1
|
[NCBI]
|
1.59363e-05
|
|
|
ECEL1
|
[NCBI]
|
1.59363e-05
|
|
|
CHX10
|
[NCBI]
|
1.59363e-05
|
|
|
CRKL
|
[NCBI]
|
1.59363e-05
|
|
|
BSCL2
|
[NCBI]
|
1.59363e-05
|
|
|
CHUK
|
[NCBI]
|
1.59202e-05
|
|
|
DCN
|
[NCBI]
|
1.5515e-05
|
|
|
ehlers-danlos syndrome, type vi
|
[NCBI]
|
1.51742e-05
|
|
|
APOB
|
[NCBI]
|
1.48783e-05
|
|
|
EEC1
|
[NCBI]
|
1.48436e-05
|
|
|
FGF7
|
[NCBI]
|
1.47728e-05
|
|
|
TLR4
|
[NCBI]
|
1.47201e-05
|
|
|
COL9A3
|
[NCBI]
|
1.45535e-05
|
|
|
FAM20C
|
[NCBI]
|
1.45535e-05
|
|
|
TBX22
|
[NCBI]
|
1.45535e-05
|
|
|
ZBTB7B
|
[NCBI]
|
1.45535e-05
|
|
|
SIL
|
[NCBI]
|
1.45535e-05
|
|
|
MESP2
|
[NCBI]
|
1.45535e-05
|
|
|
SOX5
|
[NCBI]
|
1.45535e-05
|
|
|
RNF2
|
[NCBI]
|
1.45535e-05
|
|
|
P2RY6
|
[NCBI]
|
1.45535e-05
|
|
|
LECT1
|
[NCBI]
|
1.45535e-05
|
|
|
CNR2
|
[NCBI]
|
1.45535e-05
|
|
|
IGFBP4
|
[NCBI]
|
1.45535e-05
|
|
|
DMP1
|
[NCBI]
|
1.45535e-05
|
|
|
NPPB
|
[NCBI]
|
1.45535e-05
|
|
|
ACVR2B
|
[NCBI]
|
1.45535e-05
|
|
|
COL19A1
|
[NCBI]
|
1.45535e-05
|
|
|
IL11RA
|
[NCBI]
|
1.45535e-05
|
|
|
DACH1
|
[NCBI]
|
1.45535e-05
|
|
|
SEDC
|
[NCBI]
|
1.41215e-05
|
|
|
MADA
|
[NCBI]
|
1.41215e-05
|
|
|
ACCN2
|
[NCBI]
|
1.40355e-05
|
|
|
SOD2
|
[NCBI]
|
1.39335e-05
|
|
|
TRPV5
|
[NCBI]
|
1.34149e-05
|
|
|
WNT11
|
[NCBI]
|
1.34149e-05
|
|
|
CTNS
|
[NCBI]
|
1.34149e-05
|
|
|
GREM1
|
[NCBI]
|
1.34149e-05
|
|
|
IBSP
|
[NCBI]
|
1.34149e-05
|
|
|
BMP6
|
[NCBI]
|
1.34149e-05
|
|
|
POR
|
[NCBI]
|
1.34149e-05
|
|
|
SOX6
|
[NCBI]
|
1.34149e-05
|
|
|
CHRND
|
[NCBI]
|
1.34149e-05
|
|
|
TICAM2
|
[NCBI]
|
1.34149e-05
|
|
|
LEPRE1
|
[NCBI]
|
1.34149e-05
|
|
|
TBX4
|
[NCBI]
|
1.34149e-05
|
|
|
PAPSS1
|
[NCBI]
|
1.34149e-05
|
|
|
SDC3
|
[NCBI]
|
1.34149e-05
|
|
|
FCER1G
|
[NCBI]
|
1.34149e-05
|
|
|
AMELY
|
[NCBI]
|
1.34149e-05
|
|
|
ITM2A
|
[NCBI]
|
1.34149e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
1.31436e-05
|
|
|
SOX9
|
[NCBI]
|
1.30525e-05
|
|
|
GAL
|
[NCBI]
|
1.2485e-05
|
|
|
CLCN7
|
[NCBI]
|
1.24498e-05
|
|
|
ZIC3
|
[NCBI]
|
1.24498e-05
|
|
|
TRPS1
|
[NCBI]
|
1.24498e-05
|
|
|
DVL2
|
[NCBI]
|
1.24498e-05
|
|
|
ALX4
|
[NCBI]
|
1.24498e-05
|
|
|
ACP2
|
[NCBI]
|
1.24498e-05
|
|
|
VEGFB
|
[NCBI]
|
1.24498e-05
|
|
|
RECQL4
|
[NCBI]
|
1.24498e-05
|
|
|
FRZB
|
[NCBI]
|
1.24498e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
1.22331e-05
|
|
|
GH1
|
[NCBI]
|
1.21596e-05
|
|
|
AHR
|
[NCBI]
|
1.20946e-05
|
|
|
WAS
|
[NCBI]
|
1.16784e-05
|
|
|
CHRD
|
[NCBI]
|
1.16146e-05
|
|
|
COL5A2
|
[NCBI]
|
1.16146e-05
|
|
|
SIAH1
|
[NCBI]
|
1.16146e-05
|
|
|
CMKLR1
|
[NCBI]
|
1.16146e-05
|
|
|
CDH13
|
[NCBI]
|
1.16146e-05
|
|
|
SLC34A1
|
[NCBI]
|
1.16146e-05
|
|
|
PRKCD
|
[NCBI]
|
1.16146e-05
|
|
|
CHNG2
|
[NCBI]
|
1.13841e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
1.13841e-05
|
|
|
SRF
|
[NCBI]
|
1.1216e-05
|
|
|
polycystic kidneys
|
[NCBI]
|
1.11009e-05
|
|
|
plasmin inhibitor deficiency
|
[NCBI]
|
1.088e-05
|
|
|
CALCR
|
[NCBI]
|
1.088e-05
|
|
|
LMNB1
|
[NCBI]
|
1.088e-05
|
|
|
ACCN1
|
[NCBI]
|
1.088e-05
|
|
|
FBLN1
|
[NCBI]
|
1.088e-05
|
|
|
RORA
|
[NCBI]
|
1.088e-05
|
|
|
CDLS1
|
[NCBI]
|
1.07234e-05
|
|
|
ODDD
|
[NCBI]
|
1.05911e-05
|
|
|
TF
|
[NCBI]
|
1.03449e-05
|
|
|
CSF2RA
|
[NCBI]
|
1.02259e-05
|
|
|
FMOD
|
[NCBI]
|
1.02259e-05
|
|
|
COL11A1
|
[NCBI]
|
1.02259e-05
|
|
|
MSX2
|
[NCBI]
|
1.02259e-05
|
|
|
TLX1
|
[NCBI]
|
1.02259e-05
|
|
|
TSHR
|
[NCBI]
|
1.01299e-05
|
|
|
GAN1
|
[NCBI]
|
9.8495e-06
|
|
|
SGBS1
|
[NCBI]
|
9.8495e-06
|
|
|
BGS
|
[NCBI]
|
9.8495e-06
|
|
|
PFIC1
|
[NCBI]
|
9.8495e-06
|
|
|
ehlers-danlos syndrome, type i
|
[NCBI]
|
9.8495e-06
|
|
|
ACCN3
|
[NCBI]
|
9.6376e-06
|
|
|
FMN
|
[NCBI]
|
9.6376e-06
|
|
|
PTPN6
|
[NCBI]
|
9.6376e-06
|
|
|
TFAP2A
|
[NCBI]
|
9.6376e-06
|
|
|
SPI1
|
[NCBI]
|
9.6376e-06
|
|
|
GDF11
|
[NCBI]
|
9.6376e-06
|
|
|
GNPAT
|
[NCBI]
|
9.6376e-06
|
|
|
ENAM
|
[NCBI]
|
9.6376e-06
|
|
|
WNT3A
|
[NCBI]
|
9.6376e-06
|
|
|
WNK4
|
[NCBI]
|
9.6376e-06
|
|
|
PTN
|
[NCBI]
|
9.26955e-06
|
|
|
COL9A1
|
[NCBI]
|
9.10406e-06
|
|
|
PPOX
|
[NCBI]
|
9.10406e-06
|
|
|
PITX1
|
[NCBI]
|
9.10406e-06
|
|
|
RAI1
|
[NCBI]
|
9.10406e-06
|
|
|
SALL1
|
[NCBI]
|
9.10406e-06
|
|
|
IDUA
|
[NCBI]
|
9.06662e-06
|
|
|
TTR
|
[NCBI]
|
8.95106e-06
|
|
|
ERCC6
|
[NCBI]
|
8.61683e-06
|
|
|
ETS2
|
[NCBI]
|
8.61683e-06
|
|
|
PROS1
|
[NCBI]
|
8.61683e-06
|
|
|
CACNA1S
|
[NCBI]
|
8.61683e-06
|
|
|
ECM1
|
[NCBI]
|
8.61683e-06
|
|
|
GHRHR
|
[NCBI]
|
8.61683e-06
|
|
|
hyperglycerolemia
|
[NCBI]
|
8.50448e-06
|
|
|
PSEN1
|
[NCBI]
|
8.25668e-06
|
|
|
ACTC1
|
[NCBI]
|
8.16927e-06
|
|
|
EXT1
|
[NCBI]
|
8.16927e-06
|
|
|
CMTC
|
[NCBI]
|
7.89418e-06
|
|
|
SHH
|
[NCBI]
|
7.87652e-06
|
|
|
LMX1B
|
[NCBI]
|
7.7561e-06
|
|
|
CNR1
|
[NCBI]
|
7.7561e-06
|
|
|
DLL3
|
[NCBI]
|
7.7561e-06
|
|
|
HOXD13
|
[NCBI]
|
7.7561e-06
|
|
|
BMP1
|
[NCBI]
|
7.7561e-06
|
|
|
PYY
|
[NCBI]
|
7.7495e-06
|
|
|
IGFALS
|
[NCBI]
|
7.45155e-06
|
|
|
FOXC2
|
[NCBI]
|
7.37299e-06
|
|
|
TAL1
|
[NCBI]
|
7.37299e-06
|
|
|
BMP7
|
[NCBI]
|
7.37299e-06
|
|
|
IL1A
|
[NCBI]
|
7.37299e-06
|
|
|
CYP27B1
|
[NCBI]
|
7.37299e-06
|
|
|
HSD11B1
|
[NCBI]
|
7.37299e-06
|
|
|
HSAN3
|
[NCBI]
|
7.32139e-06
|
|
|
EN1
|
[NCBI]
|
7.01641e-06
|
|
|
UTRN
|
[NCBI]
|
7.01641e-06
|
|
|
TBX1
|
[NCBI]
|
7.01641e-06
|
|
|
GHRH
|
[NCBI]
|
6.93342e-06
|
|
|
NEM3
|
[NCBI]
|
6.78352e-06
|
|
|
MAN2B1
|
[NCBI]
|
6.6834e-06
|
|
|
EYA1
|
[NCBI]
|
6.6834e-06
|
|
|
KL
|
[NCBI]
|
6.6834e-06
|
|
|
ALCAM
|
[NCBI]
|
6.37148e-06
|
|
|
ENPP1
|
[NCBI]
|
6.37148e-06
|
|
|
PLOD1
|
[NCBI]
|
6.37148e-06
|
|
|
PAX5
|
[NCBI]
|
6.07854e-06
|
|
|
RPS19
|
[NCBI]
|
6.07854e-06
|
|
|
CALCA
|
[NCBI]
|
6.07854e-06
|
|
|
BMP2
|
[NCBI]
|
6.00217e-06
|
|
|
glioma of brain, familial
|
[NCBI]
|
5.80346e-06
|
|
|
TYRP1
|
[NCBI]
|
5.80277e-06
|
|
|
MFS
|
[NCBI]
|
5.59332e-06
|
|
|
LDHB
|
[NCBI]
|
5.5426e-06
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
5.35727e-06
|
|
|
CTSK
|
[NCBI]
|
5.29668e-06
|
|
|
HDAC4
|
[NCBI]
|
5.06382e-06
|
|
|
ATP7A
|
[NCBI]
|
5.06382e-06
|
|
|
GPC3
|
[NCBI]
|
5.06382e-06
|
|
|
ARSB
|
[NCBI]
|
5.06382e-06
|
|
|
PPIB
|
[NCBI]
|
4.84297e-06
|
|
|
GLI3
|
[NCBI]
|
4.84297e-06
|
|
|
ATF4
|
[NCBI]
|
4.84297e-06
|
|
|
CAV1
|
[NCBI]
|
4.63321e-06
|
|
|
IFNB1
|
[NCBI]
|
4.24376e-06
|
|
|
SCS
|
[NCBI]
|
4.1736e-06
|
|
|
ADORA3
|
[NCBI]
|
4.06267e-06
|
|
|
RPS6KA3
|
[NCBI]
|
3.88987e-06
|
|
|
BRRS
|
[NCBI]
|
3.82585e-06
|
|
|
SMS
|
[NCBI]
|
3.75306e-06
|
|
|
ESR2
|
[NCBI]
|
3.72481e-06
|
|
|
ALAD
|
[NCBI]
|
3.72481e-06
|
|
|
IP
|
[NCBI]
|
3.58818e-06
|
|
|
GLB1
|
[NCBI]
|
3.56702e-06
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
3.56702e-06
|
|
|
WS1
|
[NCBI]
|
3.4994e-06
|
|
|
B2M
|
[NCBI]
|
3.27151e-06
|
|
|
HRG
|
[NCBI]
|
3.27151e-06
|
|
|
ZS
|
[NCBI]
|
3.26659e-06
|
|
|
AKR1B1
|
[NCBI]
|
3.19564e-06
|
|
|
hurler syndrome
|
[NCBI]
|
3.19311e-06
|
|
|
RUNX1
|
[NCBI]
|
3.00024e-06
|
|
|
MC4R
|
[NCBI]
|
2.87288e-06
|
|
|
KAL1
|
[NCBI]
|
2.75064e-06
|
|
|
EDN1
|
[NCBI]
|
2.75064e-06
|
|
|
ENPP2
|
[NCBI]
|
2.63326e-06
|
|
|
FGFR1
|
[NCBI]
|
2.58568e-06
|
|
|
CREBBP
|
[NCBI]
|
2.5205e-06
|
|
|
OSM
|
[NCBI]
|
2.50743e-06
|
|
|
ABL1
|
[NCBI]
|
2.41214e-06
|
|
|
ZNF145
|
[NCBI]
|
2.41214e-06
|
|
|
hypogonadotropic hypogonadism
|
[NCBI]
|
2.38528e-06
|
|
|
SHBG
|
[NCBI]
|
2.37743e-06
|
|
|
SEMA3A
|
[NCBI]
|
2.30795e-06
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
2.30795e-06
|
|
|
MHS1
|
[NCBI]
|
2.15006e-06
|
|
|
HMGB1
|
[NCBI]
|
2.11137e-06
|
|
|
DGS
|
[NCBI]
|
2.08185e-06
|
|
|
GBA
|
[NCBI]
|
2.01862e-06
|
|
|
PGR
|
[NCBI]
|
1.96548e-06
|
|
|
ACE
|
[NCBI]
|
1.93308e-06
|
|
|
MMP9
|
[NCBI]
|
1.92936e-06
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
1.84983e-06
|
|
|
FLNA
|
[NCBI]
|
1.681e-06
|
|
|
homocystinuria
|
[NCBI]
|
1.53035e-06
|
|
|
AGER
|
[NCBI]
|
1.48224e-06
|
|
|
MC1R
|
[NCBI]
|
1.45915e-06
|
|
|
hemophilia a
|
[NCBI]
|
1.45915e-06
|
|
|
ITGB2
|
[NCBI]
|
1.39057e-06
|
|
|
NS1
|
[NCBI]
|
1.35928e-06
|
|
|
INS
|
[NCBI]
|
1.28888e-06
|
|
|
TGFB1
|
[NCBI]
|
1.19956e-06
|
|
|
NF1
|
[NCBI]
|
1.15609e-06
|
|
|
HP
|
[NCBI]
|
1.12897e-06
|
|
|
COMT
|
[NCBI]
|
1.12007e-06
|
|
|
TYR
|
[NCBI]
|
1.02889e-06
|
|
|
VCP
|
[NCBI]
|
1.02889e-06
|
|
|
BTC
|
[NCBI]
|
1.02889e-06
|
|
|
FGF2
|
[NCBI]
|
8.99211e-07
|
|
|
SERPINA6
|
[NCBI]
|
8.95439e-07
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
8.7655e-07
|
|
|
TP53
|
[NCBI]
|
8.46231e-07
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
7.79089e-07
|
|
|
HDC
|
[NCBI]
|
6.88043e-07
|
|
|
PKD1
|
[NCBI]
|
6.20237e-07
|
|
|
ALB
|
[NCBI]
|
5.88267e-07
|
|
|
MEN1
|
[NCBI]
|
5.83172e-07
|
|
|
CTGF
|
[NCBI]
|
5.1656e-07
|
|
|
LRP1
|
[NCBI]
|
5.10135e-07
|
|
|
MTM1
|
[NCBI]
|
4.62552e-07
|
|
|
AR
|
[NCBI]
|
4.11959e-07
|
|
|
TNFRSF1A
|
[NCBI]
|
3.90694e-07
|
|
|
TNFSF10
|
[NCBI]
|
2.62351e-07
|
|
|
STAT1
|
[NCBI]
|
2.47378e-07
|
|
|
PPARG
|
[NCBI]
|
2.23344e-07
|
|
|
DBA
|
[NCBI]
|
2.0452e-07
|
|
|
BWS
|
[NCBI]
|
1.88957e-07
|
|
|
PTGS2
|
[NCBI]
|
1.68058e-07
|
|
|
IL6
|
[NCBI]
|
1.64699e-07
|
|
|
TNC
|
[NCBI]
|
1.17837e-07
|
|
|
HBB
|
[NCBI]
|
1.15437e-07
|
|
|
FGF1
|
[NCBI]
|
1.08046e-07
|
|
|
menkes disease
|
[NCBI]
|
8.28338e-08
|
|
|
GJA1
|
[NCBI]
|
7.04014e-08
|
|
|
GUSB
|
[NCBI]
|
4.46552e-08
|
|
|
IL4
|
[NCBI]
|
3.69565e-08
|
|
|
NR1I2
|
[NCBI]
|
2.58092e-08
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
1.40689e-08
|
|
|
PTEN
|
[NCBI]
|
1.37434e-08
|
|
|
MITF
|
[NCBI]
|
1.28974e-08
|
|
|
CALCRL
|
[NCBI]
|
6.28011e-09
|
|
|
LEP
|
[NCBI]
|
7.28607e-10
|
|