|
OMIM |
Link |
Information gain |
01 |
|
RA
|
[NCBI]
|
0.00651031
|
|
|
SLE
|
[NCBI]
|
0.00415441
|
|
|
hennekam lymphangiectasia-lymphedema syndrome
|
[NCBI]
|
0.00240121
|
|
|
CF
|
[NCBI]
|
0.00216928
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.00210207
|
|
|
DSMA3
|
[NCBI]
|
0.00192039
|
|
|
SEMDJL
|
[NCBI]
|
0.00190017
|
|
|
FRNS
|
[NCBI]
|
0.00167748
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.00165926
|
|
|
omodysplasia, generalized form
|
[NCBI]
|
0.00163231
|
|
|
SPG5A
|
[NCBI]
|
0.00163231
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.00163231
|
|
|
cataract, autosomal recessive, early-onset, pulverulent
|
[NCBI]
|
0.00143986
|
|
|
OFD9
|
[NCBI]
|
0.00143986
|
|
|
DYT2
|
[NCBI]
|
0.00138779
|
|
|
SRS
|
[NCBI]
|
0.0013082
|
|
|
AD
|
[NCBI]
|
0.0012633
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.0012221
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.0012221
|
|
|
OFD4
|
[NCBI]
|
0.0012221
|
|
|
NLS
|
[NCBI]
|
0.00116484
|
|
|
achalasia, familial esophageal
|
[NCBI]
|
0.00105438
|
|
|
neuropathy, hereditary motor and sensory, russe type
|
[NCBI]
|
0.00105438
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.00105438
|
|
|
gonadal dysgenesis, xx type, with deafness
|
[NCBI]
|
0.00105438
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
0.00104815
|
|
|
arthrogryposis multiplex congenita, distal, x-linked
|
[NCBI]
|
0.00102573
|
|
|
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
|
[NCBI]
|
0.00102573
|
|
|
CNA1
|
[NCBI]
|
0.00102573
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.00102573
|
|
|
campomelia, cumming type
|
[NCBI]
|
0.00102573
|
|
|
CMT2B2
|
[NCBI]
|
0.00102573
|
|
|
VDEGS
|
[NCBI]
|
0.00102573
|
|
|
AXPC1
|
[NCBI]
|
0.00102573
|
|
|
cenani syndactylism
|
[NCBI]
|
0.00102573
|
|
|
CRC
|
[NCBI]
|
0.000987057
|
|
|
DFNB13
|
[NCBI]
|
0.000959622
|
|
|
SCAR5
|
[NCBI]
|
0.000959622
|
|
|
humeroradial synostosis
|
[NCBI]
|
0.000959622
|
|
|
cone-rod dystrophy and amelogenesis imperfecta
|
[NCBI]
|
0.000959622
|
|
|
focal facial dermal dysplasia
|
[NCBI]
|
0.000959622
|
|
|
spondyloepiphyseal dysplasia tarda, toledo type
|
[NCBI]
|
0.000959622
|
|
|
HDL3
|
[NCBI]
|
0.000959622
|
|
|
MRT12
|
[NCBI]
|
0.000959622
|
|
|
hypomandibular faciocranial dysostosis
|
[NCBI]
|
0.000959622
|
|
|
NNCI
|
[NCBI]
|
0.000959622
|
|
|
CMTX2
|
[NCBI]
|
0.000959622
|
|
|
spondylodysplasia with pure brachyolmia
|
[NCBI]
|
0.000959622
|
|
|
deafness, high-frequency sensorineural, x-linked
|
[NCBI]
|
0.000959622
|
|
|
MF4
|
[NCBI]
|
0.000959622
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.000959622
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000955036
|
|
|
GO
|
[NCBI]
|
0.000924237
|
|
|
RP
|
[NCBI]
|
0.000919541
|
|
|
ATD1
|
[NCBI]
|
0.000884023
|
|
|
FSHMD1A
|
[NCBI]
|
0.000855213
|
|
|
CTAA1
|
[NCBI]
|
0.000828485
|
|
|
chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000828485
|
|
|
gapo syndrome
|
[NCBI]
|
0.000828485
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000828485
|
|
|
AMCN
|
[NCBI]
|
0.000729913
|
|
|
spatial visualization, aptitude for
|
[NCBI]
|
0.000729913
|
|
|
HYPX
|
[NCBI]
|
0.000729913
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.000729913
|
|
|
MDD
|
[NCBI]
|
0.000708199
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000692821
|
|
|
visceral myopathy, familial, with external ophthalmoplegia
|
[NCBI]
|
0.000692821
|
|
|
LGMD2C
|
[NCBI]
|
0.00069044
|
|
|
diaphragmatic hernia, congenital
|
[NCBI]
|
0.000674354
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.000610527
|
|
|
spondylometaphyseal dysplasia, sedaghatian type
|
[NCBI]
|
0.000610527
|
|
|
pyle disease
|
[NCBI]
|
0.000610527
|
|
|
cerebellar hypoplasia, mental retardation, and quadrupedal locomotion
|
[NCBI]
|
0.000610527
|
|
|
wieacker syndrome
|
[NCBI]
|
0.000610527
|
|
|
MHAC
|
[NCBI]
|
0.000610527
|
|
|
cerebellar atrophy with progressive microcephaly
|
[NCBI]
|
0.000610527
|
|
|
faciodigitogenital syndrome, recessive
|
[NCBI]
|
0.000610527
|
|
|
prostate cancer, hereditary, 3
|
[NCBI]
|
0.000610527
|
|
|
CMTX3
|
[NCBI]
|
0.000610527
|
|
|
DFNB5
|
[NCBI]
|
0.000610527
|
|
|
SPG15
|
[NCBI]
|
0.000610527
|
|
|
candidiasis, familial chronic mucocutaneous, autosomal recessive
|
[NCBI]
|
0.000610527
|
|
|
SCAR6
|
[NCBI]
|
0.000610527
|
|
|
cataract, central saccular, with sutural opacities
|
[NCBI]
|
0.000610527
|
|
|
frontofacionasal dysostosis
|
[NCBI]
|
0.000610527
|
|
|
microcephalic osteodysplastic primordial dwarfism, type iii
|
[NCBI]
|
0.000610527
|
|
|
LI5
|
[NCBI]
|
0.000610527
|
|
|
omodysplasia
|
[NCBI]
|
0.000610527
|
|
|
alopecia-mental retardation syndrome 1
|
[NCBI]
|
0.000610527
|
|
|
cerebellar hypoplasia
|
[NCBI]
|
0.000610527
|
|
|
macrocephaly with multiple epiphyseal dysplasia and distinctive facies
|
[NCBI]
|
0.000610527
|
|
|
anodontia of permanent dentition
|
[NCBI]
|
0.000610527
|
|
|
CVD1
|
[NCBI]
|
0.000610527
|
|
|
intestinal atresia, multiple
|
[NCBI]
|
0.000590131
|
|
|
beta-aminoisobutyric acid, urinary excretion of
|
[NCBI]
|
0.000590131
|
|
|
kohlschutter-tonz syndrome
|
[NCBI]
|
0.000590131
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
0.000590131
|
|
|
anencephaly
|
[NCBI]
|
0.000588569
|
|
|
AOS
|
[NCBI]
|
0.00055333
|
|
|
JBTS1
|
[NCBI]
|
0.000492041
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000491867
|
|
|
SACS
|
[NCBI]
|
0.000491439
|
|
|
ARPKD
|
[NCBI]
|
0.000490879
|
|
|
CORD3
|
[NCBI]
|
0.000485838
|
|
|
MRT5
|
[NCBI]
|
0.000479668
|
|
|
OFD8
|
[NCBI]
|
0.000479668
|
|
|
DFNB44
|
[NCBI]
|
0.000479668
|
|
|
MRT10
|
[NCBI]
|
0.000479668
|
|
|
EIG3
|
[NCBI]
|
0.000479668
|
|
|
DFNB66
|
[NCBI]
|
0.000479668
|
|
|
OPA6
|
[NCBI]
|
0.000479668
|
|
|
DFNB35
|
[NCBI]
|
0.000479668
|
|
|
MRT4
|
[NCBI]
|
0.000479668
|
|
|
myoclonic epilepsy, infantile
|
[NCBI]
|
0.000479668
|
|
|
ventriculomegaly with defects of the radius and kidney
|
[NCBI]
|
0.000479668
|
|
|
foveal hypoplasia and anterior segment dysgenesis
|
[NCBI]
|
0.000479668
|
|
|
bulbar palsy, progressive, of childhood
|
[NCBI]
|
0.000479668
|
|
|
microcephaly-micromelia syndrome
|
[NCBI]
|
0.000479668
|
|
|
MRXS11
|
[NCBI]
|
0.000479668
|
|
|
polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive
|
[NCBI]
|
0.000479668
|
|
|
cardiomyopathy associated with myopathy and sudden death
|
[NCBI]
|
0.000479668
|
|
|
SPG24
|
[NCBI]
|
0.000479668
|
|
|
blepharophimosis with ptosis, syndactyly, and short stature
|
[NCBI]
|
0.000479668
|
|
|
SPG30
|
[NCBI]
|
0.000479668
|
|
|
spinal muscular atrophy, distal, x-linked recessive
|
[NCBI]
|
0.000479668
|
|
|
onychotrichodysplasia and neutropenia
|
[NCBI]
|
0.000479668
|
|
|
DYTCA
|
[NCBI]
|
0.000479668
|
|
|
metaphyseal acroscyphodysplasia
|
[NCBI]
|
0.000479668
|
|
|
adducted thumbs syndrome
|
[NCBI]
|
0.000479668
|
|
|
ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism
|
[NCBI]
|
0.000479668
|
|
|
lelis syndrome
|
[NCBI]
|
0.000479668
|
|
|
arteriosclerosis, severe juvenile
|
[NCBI]
|
0.000479668
|
|
|
MRT9
|
[NCBI]
|
0.000479668
|
|
|
deafness, neurosensory, autosomal recessive 47
|
[NCBI]
|
0.000479668
|
|
|
DFNB40
|
[NCBI]
|
0.000479668
|
|
|
OFD5
|
[NCBI]
|
0.000479668
|
|
|
RP25
|
[NCBI]
|
0.000479668
|
|
|
DFNB26
|
[NCBI]
|
0.000479668
|
|
|
DFNA49
|
[NCBI]
|
0.000479668
|
|
|
exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
|
[NCBI]
|
0.000479668
|
|
|
DFNB32
|
[NCBI]
|
0.000479668
|
|
|
DFNB39
|
[NCBI]
|
0.000479668
|
|
|
hodgkin disease, y-linked pseudoautosomal
|
[NCBI]
|
0.000479668
|
|
|
DFNB62
|
[NCBI]
|
0.000479668
|
|
|
DFNB48
|
[NCBI]
|
0.000479668
|
|
|
deafness, congenital neurosensory, autosomal recessive 38
|
[NCBI]
|
0.000479668
|
|
|
SPG27
|
[NCBI]
|
0.000479668
|
|
|
DFNB55
|
[NCBI]
|
0.000479668
|
|
|
RP22
|
[NCBI]
|
0.000479668
|
|
|
atypical mycobacteriosis, familial, x-linked 2
|
[NCBI]
|
0.000479668
|
|
|
high density lipoprotein cholesterol level quantitative trait locus 2
|
[NCBI]
|
0.000479668
|
|
|
DFNB63
|
[NCBI]
|
0.000479668
|
|
|
SCKL2
|
[NCBI]
|
0.000479668
|
|
|
RP28
|
[NCBI]
|
0.000479668
|
|
|
MCPH2
|
[NCBI]
|
0.000479668
|
|
|
chudley-mccullough syndrome
|
[NCBI]
|
0.000479668
|
|
|
SLSN3
|
[NCBI]
|
0.000479668
|
|
|
MRT8
|
[NCBI]
|
0.000479668
|
|
|
neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive
|
[NCBI]
|
0.000479668
|
|
|
SPG26
|
[NCBI]
|
0.000479668
|
|
|
SPAX2
|
[NCBI]
|
0.000479668
|
|
|
LAH3
|
[NCBI]
|
0.000479668
|
|
|
oculorenocerebellar syndrome
|
[NCBI]
|
0.000479668
|
|
|
DFNM1
|
[NCBI]
|
0.000479668
|
|
|
autoimmune thyroid disease, susceptibility to, 4
|
[NCBI]
|
0.000479668
|
|
|
DFNB20
|
[NCBI]
|
0.000479668
|
|
|
MRT11
|
[NCBI]
|
0.000479668
|
|
|
CATCN1
|
[NCBI]
|
0.000479668
|
|
|
trichoscyphodysplasia
|
[NCBI]
|
0.000479668
|
|
|
red skin pigment anomaly of new guinea
|
[NCBI]
|
0.000479668
|
|
|
SPAX3
|
[NCBI]
|
0.000479668
|
|
|
MRT7
|
[NCBI]
|
0.000479668
|
|
|
amyotrophic lateral sclerosis, juvenile, with dementia
|
[NCBI]
|
0.000479668
|
|
|
MCPH4
|
[NCBI]
|
0.000479668
|
|
|
xanthomatosis, susceptibility to
|
[NCBI]
|
0.000479668
|
|
|
DFNB68
|
[NCBI]
|
0.000479668
|
|
|
mental retardation, truncal obesity, retinal dystrophy, and micropenis
|
[NCBI]
|
0.000479668
|
|
|
DFNB1
|
[NCBI]
|
0.000471043
|
|
|
BWCNS
|
[NCBI]
|
0.000461642
|
|
|
cholestasis-lymphedema syndrome
|
[NCBI]
|
0.000461642
|
|
|
opsismodysplasia
|
[NCBI]
|
0.000461642
|
|
|
ectopia lentis with ectopia of pupil
|
[NCBI]
|
0.000461642
|
|
|
SCAR2
|
[NCBI]
|
0.000461642
|
|
|
CORD8
|
[NCBI]
|
0.000461642
|
|
|
fibrochondrogenesis
|
[NCBI]
|
0.000461642
|
|
|
DFNB15
|
[NCBI]
|
0.000461642
|
|
|
CTAA2
|
[NCBI]
|
0.000461642
|
|
|
POADS
|
[NCBI]
|
0.000461642
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.000461642
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
0.000441136
|
|
|
mohr syndrome
|
[NCBI]
|
0.000441136
|
|
|
SCDO1
|
[NCBI]
|
0.000440289
|
|
|
ACLS
|
[NCBI]
|
0.000436577
|
|
|
HFM
|
[NCBI]
|
0.000430104
|
|
|
MCPH1
|
[NCBI]
|
0.000426287
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
0.000409495
|
|
|
CMT4A
|
[NCBI]
|
0.000404793
|
|
|
GJB2
|
[NCBI]
|
0.000399573
|
|
|
DWS
|
[NCBI]
|
0.0003979
|
|
|
STGD1
|
[NCBI]
|
0.000389452
|
|
|
ARH
|
[NCBI]
|
0.000384925
|
|
|
SHFLD1
|
[NCBI]
|
0.000384647
|
|
|
PCA
|
[NCBI]
|
0.000384647
|
|
|
OFC1
|
[NCBI]
|
0.000378662
|
|
|
ABCA4
|
[NCBI]
|
0.000366437
|
|
|
CMM
|
[NCBI]
|
0.000365975
|
|
|
tongue, pigmented fungiform papillae of
|
[NCBI]
|
0.000364525
|
|
|
AUTS5
|
[NCBI]
|
0.000364525
|
|
|
letterer-siwe disease
|
[NCBI]
|
0.000364525
|
|
|
CMDR
|
[NCBI]
|
0.000364525
|
|
|
CTPP1
|
[NCBI]
|
0.000364525
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
0.000343927
|
|
|
LI1
|
[NCBI]
|
0.000342738
|
|
|
BBS
|
[NCBI]
|
0.000341874
|
|
|
usher syndrome, type i
|
[NCBI]
|
0.000340003
|
|
|
PWS
|
[NCBI]
|
0.000331093
|
|
|
OPPG
|
[NCBI]
|
0.000309896
|
|
|
CMT4B2
|
[NCBI]
|
0.000303545
|
|
|
APC
|
[NCBI]
|
0.000303399
|
|
|
IBM2
|
[NCBI]
|
0.000303185
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.00029476
|
|
|
jejunal atresia
|
[NCBI]
|
0.000293896
|
|
|
RNANC
|
[NCBI]
|
0.000293896
|
|
|
microcephaly, hiatus hernia, and nephrotic syndrome
|
[NCBI]
|
0.000293896
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000293896
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
0.000293896
|
|
|
SCAX1
|
[NCBI]
|
0.000293896
|
|
|
CCA1
|
[NCBI]
|
0.000293896
|
|
|
STHAG4
|
[NCBI]
|
0.000293896
|
|
|
UFS
|
[NCBI]
|
0.000293896
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.000293896
|
|
|
DFNB8
|
[NCBI]
|
0.00029346
|
|
|
CNA2
|
[NCBI]
|
0.00029346
|
|
|
acrofacial dysostosis syndrome of rodriguez
|
[NCBI]
|
0.00029346
|
|
|
MCPH5
|
[NCBI]
|
0.000284117
|
|
|
situs inversus viscerum
|
[NCBI]
|
0.000284117
|
|
|
EBR1
|
[NCBI]
|
0.000283959
|
|
|
RP19
|
[NCBI]
|
0.00027757
|
|
|
DFNB59
|
[NCBI]
|
0.00027757
|
|
|
MKS1
|
[NCBI]
|
0.000273972
|
|
|
EGF
|
[NCBI]
|
0.00026941
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.000264787
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
0.000264355
|
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
|
[NCBI]
|
0.00025844
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
0.000253582
|
|
|
acheiropody
|
[NCBI]
|
0.000253582
|
|
|
SMA1
|
[NCBI]
|
0.000249059
|
|
|
COL7A1
|
[NCBI]
|
0.000243622
|
|
|
GLYS1
|
[NCBI]
|
0.000242861
|
|
|
VEGF
|
[NCBI]
|
0.00024133
|
|
|
BRCD1
|
[NCBI]
|
0.000239574
|
|
|
MCOP1
|
[NCBI]
|
0.000239574
|
|
|
hodgkin disease, x-linked pseudoautosomal
|
[NCBI]
|
0.000239574
|
|
|
HMN1
|
[NCBI]
|
0.000239574
|
|
|
EVC
|
[NCBI]
|
0.000238637
|
|
|
COH1
|
[NCBI]
|
0.000231269
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
0.000231269
|
|
|
deafness, conductive, with malformed external ear
|
[NCBI]
|
0.000230702
|
|
|
aplasia cutis congenita of limbs, recessive
|
[NCBI]
|
0.000230702
|
|
|
hyperbilirubinemia, rotor type
|
[NCBI]
|
0.000230702
|
|
|
saccharopinuria
|
[NCBI]
|
0.000230702
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000230702
|
|
|
brooks-wisniewski-brown syndrome
|
[NCBI]
|
0.000230702
|
|
|
DFNB33
|
[NCBI]
|
0.000230702
|
|
|
psoriasis susceptibility 6
|
[NCBI]
|
0.000230702
|
|
|
CACD
|
[NCBI]
|
0.000230702
|
|
|
rosselli-gulienetti syndrome
|
[NCBI]
|
0.000230702
|
|
|
SPG14
|
[NCBI]
|
0.000230702
|
|
|
cryptophthalmos, unilateral or bilateral, isolated
|
[NCBI]
|
0.000230702
|
|
|
LGMD2L
|
[NCBI]
|
0.000230702
|
|
|
myopathy, hyaline body, autosomal recessive
|
[NCBI]
|
0.000230702
|
|
|
OFD3
|
[NCBI]
|
0.000230702
|
|
|
EC1
|
[NCBI]
|
0.000230702
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal recessive
|
[NCBI]
|
0.000230702
|
|
|
sabinas brittle hair syndrome
|
[NCBI]
|
0.000230702
|
|
|
spastic diplegia, infantile type
|
[NCBI]
|
0.000230702
|
|
|
kaufman oculocerebrofacial syndrome
|
[NCBI]
|
0.000230702
|
|
|
histiocytosis with joint contractures and sensorineural deafness
|
[NCBI]
|
0.000230702
|
|
|
obesity, susceptibility to, on chromosome 4
|
[NCBI]
|
0.000230702
|
|
|
CPL
|
[NCBI]
|
0.000230702
|
|
|
volvulus of midgut
|
[NCBI]
|
0.000230702
|
|
|
epidermolysis bullosa inversa dystrophica
|
[NCBI]
|
0.000230702
|
|
|
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
|
[NCBI]
|
0.000230702
|
|
|
cdags syndrome
|
[NCBI]
|
0.000230702
|
|
|
pontocerebellar hypoplasia, type 2
|
[NCBI]
|
0.000230702
|
|
|
hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
|
[NCBI]
|
0.000230702
|
|
|
amelogenesis imperfecta, hypoplastic type
|
[NCBI]
|
0.000230702
|
|
|
GLC1I
|
[NCBI]
|
0.000230702
|
|
|
SLI3
|
[NCBI]
|
0.000230702
|
|
|
ichthyosis prematurity syndrome
|
[NCBI]
|
0.000230702
|
|
|
restless legs syndrome, susceptibility to, 2
|
[NCBI]
|
0.000230702
|
|
|
dermatoglyphics--fingerprint pattern
|
[NCBI]
|
0.000230702
|
|
|
mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
|
[NCBI]
|
0.000230702
|
|
|
AUTS8
|
[NCBI]
|
0.000230702
|
|
|
diarrhea 3, secretory sodium, congenital
|
[NCBI]
|
0.000230702
|
|
|
fibromatosis, gingival, with progressive deafness
|
[NCBI]
|
0.000230702
|
|
|
parkinsonism, early-onset, with mental retardation
|
[NCBI]
|
0.000230702
|
|
|
SCAR4
|
[NCBI]
|
0.000230702
|
|
|
femur, unilateral bifid, with monodactylous ectrodactyly
|
[NCBI]
|
0.000230702
|
|
|
PD
|
[NCBI]
|
0.000228632
|
|
|
peters-plus syndrome
|
[NCBI]
|
0.00022808
|
|
|
RTADR
|
[NCBI]
|
0.00022808
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
0.00022808
|
|
|
osteogenesis imperfecta, type viii
|
[NCBI]
|
0.00022808
|
|
|
GLC3A
|
[NCBI]
|
0.000226945
|
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i
|
[NCBI]
|
0.000226418
|
|
|
c syndrome
|
[NCBI]
|
0.000225663
|
|
|
EDM4
|
[NCBI]
|
0.000225663
|
|
|
RP12
|
[NCBI]
|
0.000225663
|
|
|
TNF
|
[NCBI]
|
0.000222006
|
|
|
HHF1
|
[NCBI]
|
0.000221706
|
|
|
PEE1
|
[NCBI]
|
0.00021232
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
0.000211298
|
|
|
CMT4C
|
[NCBI]
|
0.000211298
|
|
|
MCPH6
|
[NCBI]
|
0.000208165
|
|
|
fundus dystrophy, pseudoinflammatory, recessive form
|
[NCBI]
|
0.000208165
|
|
|
DFNB31
|
[NCBI]
|
0.000208165
|
|
|
fibular hypoplasia and complex brachydactyly
|
[NCBI]
|
0.000208165
|
|
|
rhizomelic syndrome
|
[NCBI]
|
0.000208165
|
|
|
retinitis pigmentosa, late-adult onset
|
[NCBI]
|
0.000208165
|
|
|
tetra-amelia, x-linked
|
[NCBI]
|
0.000208165
|
|
|
DFNB7
|
[NCBI]
|
0.00020233
|
|
|
DFNB10
|
[NCBI]
|
0.00020233
|
|
|
DFNB18
|
[NCBI]
|
0.00020233
|
|
|
RP14
|
[NCBI]
|
0.00020233
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
0.00020233
|
|
|
POLG
|
[NCBI]
|
0.000199893
|
|
|
SHFM1
|
[NCBI]
|
0.000197774
|
|
|
microtia with meatal atresia and conductive deafness
|
[NCBI]
|
0.000196352
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.000196352
|
|
|
carnitine deficiency, myopathic
|
[NCBI]
|
0.000196352
|
|
|
DFN2
|
[NCBI]
|
0.000196352
|
|
|
EAOH
|
[NCBI]
|
0.000194501
|
|
|
PXE
|
[NCBI]
|
0.000191153
|
|
|
ALUNC
|
[NCBI]
|
0.000188152
|
|
|
myotonia congenita, autosomal recessive
|
[NCBI]
|
0.000188152
|
|
|
NPHP1
|
[NCBI]
|
0.000187281
|
|
|
PCOS1
|
[NCBI]
|
0.000186613
|
|
|
NEM2
|
[NCBI]
|
0.000183708
|
|
|
CSNB1B
|
[NCBI]
|
0.000183708
|
|
|
ectodermal dysplasia, anhidrotic
|
[NCBI]
|
0.000183708
|
|
|
HOMG3
|
[NCBI]
|
0.000183708
|
|
|
vacterl association with hydrocephalus
|
[NCBI]
|
0.000183708
|
|
|
NM
|
[NCBI]
|
0.000178545
|
|
|
USH1C
|
[NCBI]
|
0.000169906
|
|
|
AGS1
|
[NCBI]
|
0.000169906
|
|
|
KCS
|
[NCBI]
|
0.000169022
|
|
|
SANDO
|
[NCBI]
|
0.000169022
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
0.000169022
|
|
|
CMT4B1
|
[NCBI]
|
0.000169022
|
|
|
deafness, autosomal recessive
|
[NCBI]
|
0.000169022
|
|
|
fraser syndrome
|
[NCBI]
|
0.000168324
|
|
|
epidermolysis bullosa with pyloric atresia
|
[NCBI]
|
0.000168324
|
|
|
LDLRAP1
|
[NCBI]
|
0.000164764
|
|
|
MAFD2
|
[NCBI]
|
0.000164736
|
|
|
TMPRSS3
|
[NCBI]
|
0.000163818
|
|
|
LAH
|
[NCBI]
|
0.000163737
|
|
|
charcot-marie-tooth disease, recessive intermediate a
|
[NCBI]
|
0.000163737
|
|
|
OPTB2
|
[NCBI]
|
0.000163737
|
|
|
PRD
|
[NCBI]
|
0.000163737
|
|
|
duodenal atresia
|
[NCBI]
|
0.000163737
|
|
|
SCZD7
|
[NCBI]
|
0.000161191
|
|
|
PARK2
|
[NCBI]
|
0.00016073
|
|
|
SPG11
|
[NCBI]
|
0.000156887
|
|
|
EVA
|
[NCBI]
|
0.00015667
|
|
|
pseudoxanthoma elasticum, forme fruste
|
[NCBI]
|
0.000154896
|
|
|
hartnup disorder
|
[NCBI]
|
0.000154896
|
|
|
OCA2
|
[NCBI]
|
0.000152763
|
|
|
walker-warburg syndrome
|
[NCBI]
|
0.000152763
|
|
|
CPX
|
[NCBI]
|
0.000152481
|
|
|
cataract, congenital or juvenile
|
[NCBI]
|
0.000146851
|
|
|
SPG16
|
[NCBI]
|
0.000146851
|
|
|
persistent hyperplastic primary vitreous, autosomal recessive
|
[NCBI]
|
0.000146851
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.000146851
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.000146851
|
|
|
thyroid hormonogenesis, genetic defect in, 4
|
[NCBI]
|
0.000146851
|
|
|
metatropic dwarfism
|
[NCBI]
|
0.000146851
|
|
|
EPV
|
[NCBI]
|
0.000146851
|
|
|
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers
|
[NCBI]
|
0.000146851
|
|
|
cowchock syndrome
|
[NCBI]
|
0.000146851
|
|
|
schopf-schulz-passarge syndrome
|
[NCBI]
|
0.000146851
|
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.000146851
|
|
|
osteogenesis imperfecta, type v
|
[NCBI]
|
0.000146851
|
|
|
klippel-feil syndrome, autosomal recessive
|
[NCBI]
|
0.000146851
|
|
|
renal-hepatic-pancreatic dysplasia with dandy-walker cyst
|
[NCBI]
|
0.000146851
|
|
|
pyloric atresia
|
[NCBI]
|
0.000146851
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.000146851
|
|
|
astigmatism
|
[NCBI]
|
0.000146851
|
|
|
spondylometaphyseal dysplasia, kozlowski type
|
[NCBI]
|
0.000146851
|
|
|
CND
|
[NCBI]
|
0.000146851
|
|
|
musk, inability to smell
|
[NCBI]
|
0.000146851
|
|
|
auditory neuropathy, x-linked, 1, with peripheral sensory neuropathy
|
[NCBI]
|
0.000146851
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.000146851
|
|
|
hypoadrenocorticism, familial
|
[NCBI]
|
0.000146851
|
|
|
cranioectodermal dysplasia
|
[NCBI]
|
0.000146851
|
|
|
myasthenia, limb-girdle, with tubular aggregates
|
[NCBI]
|
0.000146851
|
|
|
leukonychia totalis
|
[NCBI]
|
0.000146851
|
|
|
osteogenesis imperfecta, type vi
|
[NCBI]
|
0.000146851
|
|
|
SEMDIT
|
[NCBI]
|
0.000146851
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.000146851
|
|
|
patent ductus arteriosus
|
[NCBI]
|
0.000146851
|
|
|
renal tubular acidosis, distal, with progressive nerve deafness
|
[NCBI]
|
0.000146556
|
|
|
DFNB9
|
[NCBI]
|
0.000146556
|
|
|
CHH
|
[NCBI]
|
0.000143894
|
|
|
ODG1
|
[NCBI]
|
0.000142021
|
|
|
GCS1
|
[NCBI]
|
0.000142021
|
|
|
DFNB2
|
[NCBI]
|
0.000142021
|
|
|
STL3
|
[NCBI]
|
0.000142021
|
|
|
schneckenbecken dysplasia
|
[NCBI]
|
0.000142021
|
|
|
DFNB6
|
[NCBI]
|
0.000142021
|
|
|
renal tubular acidosis, distal, with hemolytic anemia
|
[NCBI]
|
0.000142021
|
|
|
alopecia-contractures-dwarfism mental retardation syndrome
|
[NCBI]
|
0.000138768
|
|
|
MRT6
|
[NCBI]
|
0.000138768
|
|
|
kniest-like dysplasia with pursed lips and ectopia lentis
|
[NCBI]
|
0.000138768
|
|
|
enterocolitis
|
[NCBI]
|
0.000138768
|
|
|
asplenia with cystic liver, kidney, and pancreas
|
[NCBI]
|
0.000138768
|
|
|
contractures, congenital, torticollis, and malignant hyperthermia
|
[NCBI]
|
0.000138768
|
|
|
retinitis pigmentosa, deafness, mental retardation, and hypogonadism
|
[NCBI]
|
0.000138768
|
|
|
multiple pterygium syndrome, aslan type
|
[NCBI]
|
0.000138768
|
|
|
DSMA4
|
[NCBI]
|
0.000138768
|
|
|
eyebrows, duplication of, with stretchable skin and syndactyly
|
[NCBI]
|
0.000138768
|
|
|
amelogenesis imperfecta, pigmented hypomaturation type
|
[NCBI]
|
0.000138768
|
|
|
mental retardation, buenos aires type
|
[NCBI]
|
0.000138768
|
|
|
spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia
|
[NCBI]
|
0.000138768
|
|
|
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
|
[NCBI]
|
0.000138768
|
|
|
LGMD2G
|
[NCBI]
|
0.000138768
|
|
|
arthrogryposis, distal, with mental retardation and characteristic facies
|
[NCBI]
|
0.000138768
|
|
|
epidermolysis bullosa, late-onset localized junctional, with mental retardation
|
[NCBI]
|
0.000138768
|
|
|
achalasia-microcephaly syndrome
|
[NCBI]
|
0.000138768
|
|
|
spondyloepimetaphyseal dysplasia, shohat type
|
[NCBI]
|
0.000138768
|
|
|
acrofrontofacionasal dysostosis syndrome
|
[NCBI]
|
0.000138768
|
|
|
hypomyelination and congenital cataract
|
[NCBI]
|
0.000138768
|
|
|
chands
|
[NCBI]
|
0.000138768
|
|
|
MCPH3
|
[NCBI]
|
0.000138768
|
|
|
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
|
[NCBI]
|
0.000138768
|
|
|
MYO7A
|
[NCBI]
|
0.00013858
|
|
|
cirrhosis, familial
|
[NCBI]
|
0.000137573
|
|
|
SLSN1
|
[NCBI]
|
0.000137573
|
|
|
OSMED
|
[NCBI]
|
0.000137573
|
|
|
NGFB
|
[NCBI]
|
0.000135073
|
|
|
CDH23
|
[NCBI]
|
0.000134619
|
|
|
MTM1
|
[NCBI]
|
0.000133315
|
|
|
GTS
|
[NCBI]
|
0.000133084
|
|
|
von willebrand disease, recessive form
|
[NCBI]
|
0.000129638
|
|
|
HHS
|
[NCBI]
|
0.000129638
|
|
|
LGMD2D
|
[NCBI]
|
0.000129638
|
|
|
GDAP1
|
[NCBI]
|
0.000127837
|
|
|
TMC1
|
[NCBI]
|
0.000127357
|
|
|
pejvakin
|
[NCBI]
|
0.000126997
|
|
|
sarcosinemia
|
[NCBI]
|
0.000126755
|
|
|
charcot-marie-tooth disease, axonal, type 2b1
|
[NCBI]
|
0.000126755
|
|
|
oguchi disease
|
[NCBI]
|
0.000126755
|
|
|
EVR4
|
[NCBI]
|
0.000126755
|
|
|
azoospermia due to perturbations of meiosis
|
[NCBI]
|
0.000126755
|
|
|
MNGIE
|
[NCBI]
|
0.000126245
|
|
|
UCMD
|
[NCBI]
|
0.000126245
|
|
|
SGCA
|
[NCBI]
|
0.000125175
|
|
|
ACCPN
|
[NCBI]
|
0.000122542
|
|
|
ALS2
|
[NCBI]
|
0.000122542
|
|
|
epidermolysis bullosa simplex and limb-girdle muscular dystrophy
|
[NCBI]
|
0.000122542
|
|
|
SACS
|
[NCBI]
|
0.00012209
|
|
|
PARK2
|
[NCBI]
|
0.000121868
|
|
|
mucolipidosis iv
|
[NCBI]
|
0.000121577
|
|
|
RTD
|
[NCBI]
|
0.000121577
|
|
|
MADA
|
[NCBI]
|
0.000117178
|
|
|
COFS1
|
[NCBI]
|
0.000116134
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
|
[NCBI]
|
0.000116134
|
|
|
CMT1B
|
[NCBI]
|
0.000114994
|
|
|
anonychia congenita
|
[NCBI]
|
0.000114941
|
|
|
acromesomelic dysplasia, hunter-thompson type
|
[NCBI]
|
0.000114941
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
0.000114941
|
|
|
XRN
|
[NCBI]
|
0.000114941
|
|
|
SLC26A4
|
[NCBI]
|
0.000114017
|
|
|
SJS1
|
[NCBI]
|
0.000113608
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
0.000112341
|
|
|
SMN1
|
[NCBI]
|
0.000111768
|
|
|
BWS
|
[NCBI]
|
0.000111357
|
|
|
WFS1
|
[NCBI]
|
0.000110535
|
|
|
LGMD2B
|
[NCBI]
|
0.000110301
|
|
|
SOST
|
[NCBI]
|
0.000110301
|
|
|
ACG1A
|
[NCBI]
|
0.000107934
|
|
|
TYR
|
[NCBI]
|
0.00010587
|
|
|
atypical mycobacteriosis, familial
|
[NCBI]
|
0.000105347
|
|
|
ALMS
|
[NCBI]
|
0.000105347
|
|
|
TRMA
|
[NCBI]
|
0.000105317
|
|
|
CHED2
|
[NCBI]
|
0.000105317
|
|
|
HRD
|
[NCBI]
|
0.000105317
|
|
|
DFNB3
|
[NCBI]
|
0.000105317
|
|
|
seckel syndrome 1
|
[NCBI]
|
0.000104954
|
|
|
PPAC
|
[NCBI]
|
0.000104954
|
|
|
SBF2
|
[NCBI]
|
0.000104333
|
|
|
HFE
|
[NCBI]
|
0.000104243
|
|
|
CD
|
[NCBI]
|
0.000101657
|
|
|
crisponi syndrome
|
[NCBI]
|
0.000101148
|
|
|
osteogenesis imperfecta, type iib
|
[NCBI]
|
0.000101148
|
|
|
MRT3
|
[NCBI]
|
0.000101148
|
|
|
malpuech facial clefting syndrome
|
[NCBI]
|
0.000101148
|
|
|
fetal akinesia syndrome, x-linked
|
[NCBI]
|
0.000101148
|
|
|
genitopalatocardiac syndrome
|
[NCBI]
|
0.000101148
|
|
|
ehlers-danlos-like syndrome due to tenascin-x deficiency
|
[NCBI]
|
0.000101148
|
|
|
AI1G
|
[NCBI]
|
0.000101148
|
|
|
SRN1
|
[NCBI]
|
0.000101148
|
|
|
OODD
|
[NCBI]
|
0.000101148
|
|
|
moved to 310600
|
[NCBI]
|
0.000101148
|
|
|
ACFD
|
[NCBI]
|
0.000101148
|
|
|
EDMD3
|
[NCBI]
|
0.000101148
|
|
|
polydactyly, postaxial
|
[NCBI]
|
0.000101148
|
|
|
ectrodactyly
|
[NCBI]
|
0.000101148
|
|
|
hypotonia-cystinuria syndrome
|
[NCBI]
|
0.000101148
|
|
|
agonadism with multiple internal malformations
|
[NCBI]
|
0.000101148
|
|
|
mandibulofacial dysostosis, treacher collins type, autosomal recessive
|
[NCBI]
|
0.000101148
|
|
|
hydrocephalus due to congenital stenosis of aqueduct of sylvius
|
[NCBI]
|
0.000101148
|
|
|
RP26
|
[NCBI]
|
0.000101148
|
|
|
PRL
|
[NCBI]
|
0.000101077
|
|
|
NPHS1
|
[NCBI]
|
0.000100027
|
|
|
OTOF
|
[NCBI]
|
9.99521e-05
|
|
|
AS
|
[NCBI]
|
9.96572e-05
|
|
|
NPY
|
[NCBI]
|
9.96438e-05
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
9.80992e-05
|
|
|
cholesterol level quantitative trait locus 1
|
[NCBI]
|
9.80992e-05
|
|
|
DYT6
|
[NCBI]
|
9.80992e-05
|
|
|
RP6
|
[NCBI]
|
9.80992e-05
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
9.80992e-05
|
|
|
stature quantitative trait locus 3
|
[NCBI]
|
9.80992e-05
|
|
|
MYP3
|
[NCBI]
|
9.80992e-05
|
|
|
costovertebral segmentation anomalies
|
[NCBI]
|
9.80992e-05
|
|
|
autoimmune thyroid disease, susceptibility to, 1
|
[NCBI]
|
9.80992e-05
|
|
|
ichthyosis follicularis, atrichia, and photophobia syndrome
|
[NCBI]
|
9.80992e-05
|
|
|
candidiasis, familial chronic mucocutaneous, autosomal dominant
|
[NCBI]
|
9.80992e-05
|
|
|
methylmalonic aciduria and homocystinuria, cbld type
|
[NCBI]
|
9.80992e-05
|
|
|
obesity quantitative trait locus on chromosome 20
|
[NCBI]
|
9.80992e-05
|
|
|
dandy-walker malformation with mental retardation, basal ganglia disease, and seizures
|
[NCBI]
|
9.80992e-05
|
|
|
charcot-marie-tooth disease, dominant intermediate a
|
[NCBI]
|
9.80992e-05
|
|
|
ALS5
|
[NCBI]
|
9.80992e-05
|
|
|
RP24
|
[NCBI]
|
9.80992e-05
|
|
|
peeling skin syndrome
|
[NCBI]
|
9.80992e-05
|
|
|
PN
|
[NCBI]
|
9.80992e-05
|
|
|
oligosynaptic infertility
|
[NCBI]
|
9.80992e-05
|
|
|
CORD5
|
[NCBI]
|
9.80992e-05
|
|
|
fatty metamorphosis of viscera
|
[NCBI]
|
9.80992e-05
|
|
|
MYP1
|
[NCBI]
|
9.80992e-05
|
|
|
noonan syndrome 2
|
[NCBI]
|
9.80992e-05
|
|
|
CARASIL
|
[NCBI]
|
9.80992e-05
|
|
|
VLDLRCH
|
[NCBI]
|
9.72168e-05
|
|
|
BOCD
|
[NCBI]
|
9.72168e-05
|
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
|
[NCBI]
|
9.72168e-05
|
|
|
CLPED1
|
[NCBI]
|
9.72168e-05
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
9.72168e-05
|
|
|
BGS
|
[NCBI]
|
9.54629e-05
|
|
|
ATP6V0A4
|
[NCBI]
|
9.524e-05
|
|
|
HSAN3
|
[NCBI]
|
9.4226e-05
|
|
|
FRDA
|
[NCBI]
|
9.2992e-05
|
|
|
udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase
|
[NCBI]
|
9.06417e-05
|
|
|
TBCE
|
[NCBI]
|
9.03569e-05
|
|
|
NETH
|
[NCBI]
|
9.02406e-05
|
|
|
hyperostosis corticalis generalisata
|
[NCBI]
|
9.02406e-05
|
|
|
hydrocephalus
|
[NCBI]
|
9.02406e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
9.02406e-05
|
|
|
AAA
|
[NCBI]
|
8.72538e-05
|
|
|
cystinuria
|
[NCBI]
|
8.63201e-05
|
|
|
robin sequence with cleft mandible and limb anomalies
|
[NCBI]
|
8.4495e-05
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
8.4495e-05
|
|
|
xanthinuria, type i
|
[NCBI]
|
8.4495e-05
|
|
|
leigh syndrome, x-linked
|
[NCBI]
|
8.4495e-05
|
|
|
CMT4H
|
[NCBI]
|
8.4495e-05
|
|
|
hypophosphatemic rickets, autosomal recessive
|
[NCBI]
|
8.4495e-05
|
|
|
XS
|
[NCBI]
|
8.4495e-05
|
|
|
bietti crystalline corneoretinal dystrophy
|
[NCBI]
|
8.4495e-05
|
|
|
MRT2
|
[NCBI]
|
8.4495e-05
|
|
|
myasthenia, limb-girdle, familial
|
[NCBI]
|
8.4495e-05
|
|
|
vitamin k-dependent clotting factors, combined deficiency of, 2
|
[NCBI]
|
8.4495e-05
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
8.4495e-05
|
|
|
cardiomyopathy, dilated, autosomal recessive
|
[NCBI]
|
8.4495e-05
|
|
|
fibromatosis, juvenile hyaline
|
[NCBI]
|
8.4495e-05
|
|
|
endocardial fibroelastosis
|
[NCBI]
|
8.4495e-05
|
|
|
osteogenesis imperfecta, type vii
|
[NCBI]
|
8.4495e-05
|
|
|
LI3
|
[NCBI]
|
8.4495e-05
|
|
|
achondroplasia, so-called, and severe combined immunodeficiency
|
[NCBI]
|
8.4495e-05
|
|
|
oculopalatoskeletal syndrome
|
[NCBI]
|
8.4495e-05
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
8.41294e-05
|
|
|
uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
|
[NCBI]
|
8.41294e-05
|
|
|
gracile syndrome
|
[NCBI]
|
8.41294e-05
|
|
|
ichthyosis vulgaris
|
[NCBI]
|
8.41294e-05
|
|
|
LGMD2A
|
[NCBI]
|
8.36097e-05
|
|
|
TD1
|
[NCBI]
|
8.29245e-05
|
|
|
PCNA
|
[NCBI]
|
8.10694e-05
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
8.08146e-05
|
|
|
F13A1
|
[NCBI]
|
7.98302e-05
|
|
|
ND
|
[NCBI]
|
7.94776e-05
|
|
|
MODY
|
[NCBI]
|
7.90171e-05
|
|
|
THC1
|
[NCBI]
|
7.87053e-05
|
|
|
SFD
|
[NCBI]
|
7.87053e-05
|
|
|
SMA4
|
[NCBI]
|
7.87053e-05
|
|
|
SEDT
|
[NCBI]
|
7.87053e-05
|
|
|
SNDI
|
[NCBI]
|
7.87053e-05
|
|
|
pycnodysostosis
|
[NCBI]
|
7.87053e-05
|
|
|
TCIRG1
|
[NCBI]
|
7.74524e-05
|
|
|
NCF2
|
[NCBI]
|
7.74524e-05
|
|
|
FCMD
|
[NCBI]
|
7.68534e-05
|
|
|
AVP
|
[NCBI]
|
7.68411e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
7.67674e-05
|
|
|
GNRHR
|
[NCBI]
|
7.66311e-05
|
|
|
lipomatosis, multiple
|
[NCBI]
|
7.57212e-05
|
|
|
PRX
|
[NCBI]
|
7.55597e-05
|
|
|
KCNQ1
|
[NCBI]
|
7.48524e-05
|
|
|
CLCN1
|
[NCBI]
|
7.42194e-05
|
|
|
multiple pterygium syndrome, lethal type
|
[NCBI]
|
7.38404e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
7.38404e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
7.38404e-05
|
|
|
NCIE1
|
[NCBI]
|
7.38404e-05
|
|
|
TULP1
|
[NCBI]
|
7.38117e-05
|
|
|
CCZS
|
[NCBI]
|
7.32625e-05
|
|
|
OPTB5
|
[NCBI]
|
7.32625e-05
|
|
|
osteolysis, hereditary multicentric
|
[NCBI]
|
7.32625e-05
|
|
|
myopathy, centronuclear, autosomal recessive
|
[NCBI]
|
7.32625e-05
|
|
|
CTPP3
|
[NCBI]
|
7.32625e-05
|
|
|
AH
|
[NCBI]
|
7.32625e-05
|
|
|
pseudodiastrophic dysplasia
|
[NCBI]
|
7.32625e-05
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
7.32625e-05
|
|
|
anemia, microcytic
|
[NCBI]
|
7.32625e-05
|
|
|
RCDP3
|
[NCBI]
|
7.32625e-05
|
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii
|
[NCBI]
|
7.32625e-05
|
|
|
TTDN1
|
[NCBI]
|
7.32625e-05
|
|
|
spinal muscular atrophy, type i, with congenital bone fractures
|
[NCBI]
|
7.32625e-05
|
|
|
cd4/cd8 t-cell ratio
|
[NCBI]
|
7.32625e-05
|
|
|
DFNB12
|
[NCBI]
|
7.32625e-05
|
|
|
LI2
|
[NCBI]
|
7.32625e-05
|
|
|
premature chromosome condensation with microcephaly and mental retardation
|
[NCBI]
|
7.32625e-05
|
|
|
GDF5
|
[NCBI]
|
7.24968e-05
|
|
|
MRXHF1
|
[NCBI]
|
7.07309e-05
|
|
|
AHC
|
[NCBI]
|
7.07309e-05
|
|
|
central core disease of muscle
|
[NCBI]
|
7.07309e-05
|
|
|
USH2A
|
[NCBI]
|
7.06721e-05
|
|
|
SLOS
|
[NCBI]
|
7.05119e-05
|
|
|
MCKD1
|
[NCBI]
|
7.04714e-05
|
|
|
CDS
|
[NCBI]
|
6.94397e-05
|
|
|
JBS
|
[NCBI]
|
6.94397e-05
|
|
|
HFTC
|
[NCBI]
|
6.94397e-05
|
|
|
JLNS1
|
[NCBI]
|
6.94397e-05
|
|
|
ACHM2
|
[NCBI]
|
6.94397e-05
|
|
|
asplenia with cardiovascular anomalies
|
[NCBI]
|
6.94397e-05
|
|
|
BTHS
|
[NCBI]
|
6.94074e-05
|
|
|
anonychia, total, with microcephaly
|
[NCBI]
|
6.93796e-05
|
|
|
EDVX
|
[NCBI]
|
6.93796e-05
|
|
|
hirschsprung disease with hypoplastic nails and dysmorphic facial features
|
[NCBI]
|
6.93796e-05
|
|
|
hypogonadism, male
|
[NCBI]
|
6.93796e-05
|
|
|
metaphyseal chondrodysplasia, spahr type
|
[NCBI]
|
6.93796e-05
|
|
|
facial dysmorphism with multiple malformations
|
[NCBI]
|
6.93796e-05
|
|
|
dysgenesis mesodermalis corneae et sclerae
|
[NCBI]
|
6.93796e-05
|
|
|
DFNB37
|
[NCBI]
|
6.93796e-05
|
|
|
spondyloepimetaphyseal dysplasia with abnormal dentition
|
[NCBI]
|
6.93796e-05
|
|
|
spastic paresis, glaucoma, and mental retardation
|
[NCBI]
|
6.93796e-05
|
|
|
metaphyseal chondrodysplasia, kaitila type
|
[NCBI]
|
6.93796e-05
|
|
|
cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and subnormal mentality
|
[NCBI]
|
6.93796e-05
|
|
|
glycoprotein storage disease
|
[NCBI]
|
6.93796e-05
|
|
|
basal ganglia disease, biotin-responsive
|
[NCBI]
|
6.93796e-05
|
|
|
gastrointestinal abnormalities, multiple
|
[NCBI]
|
6.93796e-05
|
|
|
fryns microphthalmia syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
OTD
|
[NCBI]
|
6.93796e-05
|
|
|
cortical blindness, retardation, and postaxial polydactyly
|
[NCBI]
|
6.93796e-05
|
|
|
NNO2
|
[NCBI]
|
6.93796e-05
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
otofacioosseous-gonadal syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
ARB
|
[NCBI]
|
6.93796e-05
|
|
|
aganglionosis, total intestinal
|
[NCBI]
|
6.93796e-05
|
|
|
fryns macrocephaly
|
[NCBI]
|
6.93796e-05
|
|
|
aphalangy with hemivertebrae
|
[NCBI]
|
6.93796e-05
|
|
|
adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone
|
[NCBI]
|
6.93796e-05
|
|
|
CATCN3
|
[NCBI]
|
6.93796e-05
|
|
|
marfanoid mental retardation syndrome, autosomal
|
[NCBI]
|
6.93796e-05
|
|
|
amelogenesis imperfecta, local hypoplastic type, recessive
|
[NCBI]
|
6.93796e-05
|
|
|
opticoacoustic nerve atrophy with dementia
|
[NCBI]
|
6.93796e-05
|
|
|
spinocerebellar ataxia, x-linked 4
|
[NCBI]
|
6.93796e-05
|
|
|
light fixation seizure syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
odontomicronychial dysplasia
|
[NCBI]
|
6.93796e-05
|
|
|
testes, rudimentary
|
[NCBI]
|
6.93796e-05
|
|
|
kapur-toriello syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
nephropathy, deafness, and hyperparathyroidism
|
[NCBI]
|
6.93796e-05
|
|
|
NPHS3
|
[NCBI]
|
6.93796e-05
|
|
|
dermatoglyphics--hypothenar radial arch
|
[NCBI]
|
6.93796e-05
|
|
|
platyspondyly with amelogenesis imperfecta
|
[NCBI]
|
6.93796e-05
|
|
|
faciothoracogenital syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
muscular hypoplasia, congenital universal, of krabbe
|
[NCBI]
|
6.93796e-05
|
|
|
dohle bodies and leukemia
|
[NCBI]
|
6.93796e-05
|
|
|
oral and digital anomalies with ichthyosis
|
[NCBI]
|
6.93796e-05
|
|
|
cerebrorenodigital syndrome with limb malformations and triradiate acetabula
|
[NCBI]
|
6.93796e-05
|
|
|
beemer lethal malformation syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
coloboma of macula and skeletal anomalies
|
[NCBI]
|
6.93796e-05
|
|
|
hydrocephalus with associated malformations
|
[NCBI]
|
6.93796e-05
|
|
|
macrosomia with microphthalmia, lethal
|
[NCBI]
|
6.93796e-05
|
|
|
mesomelic limb shortening and bowing
|
[NCBI]
|
6.93796e-05
|
|
|
cardiac septal defects with coarctation of the aorta
|
[NCBI]
|
6.93796e-05
|
|
|
aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy
|
[NCBI]
|
6.93796e-05
|
|
|
tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities
|
[NCBI]
|
6.93796e-05
|
|
|
acrorenal syndrome, autosomal recessive
|
[NCBI]
|
6.93796e-05
|
|
|
hutterite cerebroosteonephrodysplasia syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
iridogoniodysgenesis and skeletal anomalies
|
[NCBI]
|
6.93796e-05
|
|
|
glycosylphosphatidylinositol deficiency
|
[NCBI]
|
6.93796e-05
|
|
|
male infertility from defect in meiosis
|
[NCBI]
|
6.93796e-05
|
|
|
deafness, neural, congenital moderate
|
[NCBI]
|
6.93796e-05
|
|
|
deafness, progressive, with stapes fixation
|
[NCBI]
|
6.93796e-05
|
|
|
lymphedema-hypoparathyroidism syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
spinocerebellar ataxia with dysmorphism
|
[NCBI]
|
6.93796e-05
|
|
|
osteogenesis imperfecta, sillence type ii/iii, without abnormality of type i collagen
|
[NCBI]
|
6.93796e-05
|
|
|
deafness-oligodontia syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
lambotte syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
KPC
|
[NCBI]
|
6.93796e-05
|
|
|
incisors, shovel-shaped
|
[NCBI]
|
6.93796e-05
|
|
|
RP36
|
[NCBI]
|
6.93796e-05
|
|
|
microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs
|
[NCBI]
|
6.93796e-05
|
|
|
ichthyosis, mental retardation, dwarfism, and renal impairment
|
[NCBI]
|
6.93796e-05
|
|
|
hypotrichosis-lymphedema-telangiectasia syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
amaurosis congenita, cone-rod type, with congenital hypertrichosis
|
[NCBI]
|
6.93796e-05
|
|
|
CATCN2
|
[NCBI]
|
6.93796e-05
|
|
|
scarf syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
DFNB23
|
[NCBI]
|
6.93796e-05
|
|
|
microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen
|
[NCBI]
|
6.93796e-05
|
|
|
osteoarthritis of distal interphalangeal joints
|
[NCBI]
|
6.93796e-05
|
|
|
dermatoosteolysis, kirghizian type
|
[NCBI]
|
6.93796e-05
|
|
|
osteolysis syndrome, recessive
|
[NCBI]
|
6.93796e-05
|
|
|
epidermolysis bullosa simplex, autosomal recessive
|
[NCBI]
|
6.93796e-05
|
|
|
fallot complex with severe mental and growth retardation
|
[NCBI]
|
6.93796e-05
|
|
|
porencephaly, cerebellar hypoplasia, and internal malformations
|
[NCBI]
|
6.93796e-05
|
|
|
spinal muscular atrophy with mental retardation
|
[NCBI]
|
6.93796e-05
|
|
|
cardioauditory syndrome of sanchez cascos
|
[NCBI]
|
6.93796e-05
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
chondrodysplasia, lethal, with long bone angulation and mixed bone density
|
[NCBI]
|
6.93796e-05
|
|
|
coloboma, ocular
|
[NCBI]
|
6.93796e-05
|
|
|
fraser-like syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
nail-patella-like renal disease
|
[NCBI]
|
6.93796e-05
|
|
|
ichthyosis with hypotrichosis, autosomal recessive
|
[NCBI]
|
6.93796e-05
|
|
|
acrocraniofacial dysostosis
|
[NCBI]
|
6.93796e-05
|
|
|
wolff mental retardation syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
cerebellar ataxia and neurosensory deafness
|
[NCBI]
|
6.93796e-05
|
|
|
craniosynostosis, calcification of basal ganglia, and facial dysmorphism
|
[NCBI]
|
6.93796e-05
|
|
|
arthrogryposis with hyperkeratosis
|
[NCBI]
|
6.93796e-05
|
|
|
osteopenia and sparse hair
|
[NCBI]
|
6.93796e-05
|
|
|
polyneuropathy, mixed, of early onset
|
[NCBI]
|
6.93796e-05
|
|
|
dyggve-melchior-clausen syndrome, x-linked
|
[NCBI]
|
6.93796e-05
|
|
|
PERRS
|
[NCBI]
|
6.93796e-05
|
|
|
bifid nose, renal agenesis, and anorectal malformations
|
[NCBI]
|
6.93796e-05
|
|
|
rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction
|
[NCBI]
|
6.93796e-05
|
|
|
ectrodactyly-polydactyly
|
[NCBI]
|
6.93796e-05
|
|
|
pierre robin sequence with facial and digital anomalies
|
[NCBI]
|
6.93796e-05
|
|
|
renal dysplasia-limb defects syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
hirschsprung disease with polydactyly, renal agenesis, and deafness
|
[NCBI]
|
6.93796e-05
|
|
|
metaphyseal chondrodysplasia with retinitis pigmentosa
|
[NCBI]
|
6.93796e-05
|
|
|
retinitis pigmentosa inversa with deafness
|
[NCBI]
|
6.93796e-05
|
|
|
microcephalic primordial dwarfism, toriello type
|
[NCBI]
|
6.93796e-05
|
|
|
calvarial hyperostosis
|
[NCBI]
|
6.93796e-05
|
|
|
muscular hypertonia, lethal
|
[NCBI]
|
6.93796e-05
|
|
|
elliptocytosis, atypical
|
[NCBI]
|
6.93796e-05
|
|
|
lymphedema, congenital recessive
|
[NCBI]
|
6.93796e-05
|
|
|
arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
|
[NCBI]
|
6.93796e-05
|
|
|
thoracomelic dysplasia
|
[NCBI]
|
6.93796e-05
|
|
|
thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness
|
[NCBI]
|
6.93796e-05
|
|
|
mesoaxial hexadactyly and cardiac malformation
|
[NCBI]
|
6.93796e-05
|
|
|
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
|
[NCBI]
|
6.93796e-05
|
|
|
oculomaxillofacial dysplasia with oblique facial clefts
|
[NCBI]
|
6.93796e-05
|
|
|
neurofaciodigitorenal syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
subaortic stenosis--short stature syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
amelia, autosomal recessive
|
[NCBI]
|
6.93796e-05
|
|
|
nephropathy, progressive tubulointerstitial, with cholestatic liver disease
|
[NCBI]
|
6.93796e-05
|
|
|
myotonia with skeletal abnormalities and mental retardation
|
[NCBI]
|
6.93796e-05
|
|
|
dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
|
[NCBI]
|
6.93796e-05
|
|
|
DFNB36
|
[NCBI]
|
6.93796e-05
|
|
|
microcephaly with digital anomalies
|
[NCBI]
|
6.93796e-05
|
|
|
ulnar hypoplasia with mental retardation
|
[NCBI]
|
6.93796e-05
|
|
|
CSNB2B
|
[NCBI]
|
6.93796e-05
|
|
|
cardiomyopathy, congestive, with hypergonadotropic hypogonadism
|
[NCBI]
|
6.93796e-05
|
|
|
SAPX
|
[NCBI]
|
6.93796e-05
|
|
|
spinal muscular atrophy, scapuloperoneal
|
[NCBI]
|
6.93796e-05
|
|
|
DFNB53
|
[NCBI]
|
6.93796e-05
|
|
|
skeletal dysplasia and progressive central nervous system degeneration, lethal
|
[NCBI]
|
6.93796e-05
|
|
|
CASS
|
[NCBI]
|
6.93796e-05
|
|
|
spondyloepiphyseal dysplasia tarda with characteristic facies
|
[NCBI]
|
6.93796e-05
|
|
|
white forelock with malformations
|
[NCBI]
|
6.93796e-05
|
|
|
hypogonadism-cataract syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
dopamine beta-hydroxylase, plasma, thermolability of
|
[NCBI]
|
6.93796e-05
|
|
|
teebi-shaltout syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
homozygous 11p15-p14 deletion syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation
|
[NCBI]
|
6.93796e-05
|
|
|
tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies
|
[NCBI]
|
6.93796e-05
|
|
|
epilepsy, benign neonatal, autosomal recessive
|
[NCBI]
|
6.93796e-05
|
|
|
temtamy preaxial brachydactyly syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
tinea imbricata, susceptibility to
|
[NCBI]
|
6.93796e-05
|
|
|
nose, anomalous shape of
|
[NCBI]
|
6.93796e-05
|
|
|
cataract, cortical, juvenile-onset
|
[NCBI]
|
6.93796e-05
|
|
|
trichoodontoonychial dysplasia
|
[NCBI]
|
6.93796e-05
|
|
|
aplasia cutis congenita, high myopia, and cone-rod dysfunction
|
[NCBI]
|
6.93796e-05
|
|
|
pelviscapular dysplasia
|
[NCBI]
|
6.93796e-05
|
|
|
RCD4
|
[NCBI]
|
6.93796e-05
|
|
|
neuropathy, hereditary sensory, x-linked
|
[NCBI]
|
6.93796e-05
|
|
|
mental retardation, obesity, mandibular prognathism, and eye and skin anomalies
|
[NCBI]
|
6.93796e-05
|
|
|
CORD9
|
[NCBI]
|
6.93796e-05
|
|
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
|
[NCBI]
|
6.93796e-05
|
|
|
ehlers-danlos syndrome, beasley-cohen type
|
[NCBI]
|
6.93796e-05
|
|
|
cleidocranial dysplasia, recessive form
|
[NCBI]
|
6.93796e-05
|
|
|
microcephaly-cardiomyopathy
|
[NCBI]
|
6.93796e-05
|
|
|
radioulnar synostosis, unilateral, with developmental retardation and hypotonia
|
[NCBI]
|
6.93796e-05
|
|
|
aredyld
|
[NCBI]
|
6.93796e-05
|
|
|
cd8 deficiency, familial
|
[NCBI]
|
6.93796e-05
|
|
|
macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
|
[NCBI]
|
6.93796e-05
|
|
|
uruguay faciocardiomusculoskeletal syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism
|
[NCBI]
|
6.93796e-05
|
|
|
pachyonychia congenita, recessive
|
[NCBI]
|
6.93796e-05
|
|
|
microcephaly, severe, with skeletal anomalies including posterior rib-gap defects
|
[NCBI]
|
6.93796e-05
|
|
|
cerebellar hypoplasia with endosteal sclerosis
|
[NCBI]
|
6.93796e-05
|
|
|
spondyloepiphyseal dysplasia tarda with mental retardation
|
[NCBI]
|
6.93796e-05
|
|
|
faciocardiorenal syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
membranoproliferative glomerulonephritis, x-linked
|
[NCBI]
|
6.93796e-05
|
|
|
charcot-marie-tooth disease, axonal, type 2h
|
[NCBI]
|
6.93796e-05
|
|
|
lymphedema, atrial septal defect, and facial changes
|
[NCBI]
|
6.93796e-05
|
|
|
adrenal hypoplasia, cytomegalic type
|
[NCBI]
|
6.93796e-05
|
|
|
multiple congenital anomalies syndrome with cloverleaf skull
|
[NCBI]
|
6.93796e-05
|
|
|
spinocerebellar degeneration and corneal dystrophy
|
[NCBI]
|
6.93796e-05
|
|
|
mental retardation, microcephaly, epilepsy, and coarse face
|
[NCBI]
|
6.93796e-05
|
|
|
deafness, neural, with atypical atopic dermatitis
|
[NCBI]
|
6.93796e-05
|
|
|
alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia
|
[NCBI]
|
6.93796e-05
|
|
|
camptodactyly-ichthyosis syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
hearing loss, sensorineural, with enamel hypoplasia and nail defects
|
[NCBI]
|
6.93796e-05
|
|
|
tetralogy of fallot syndrome, autosomal recessive
|
[NCBI]
|
6.93796e-05
|
|
|
lutheran null
|
[NCBI]
|
6.93796e-05
|
|
|
polydactyly, postaxial, with dental and vertebral anomalies
|
[NCBI]
|
6.93796e-05
|
|
|
sener syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
phaver syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
cleft palate, cardiac defect, genital anomalies, and ectrodactyly
|
[NCBI]
|
6.93796e-05
|
|
|
keratoconus and congenital hip dysplasia
|
[NCBI]
|
6.93796e-05
|
|
|
pelvic hypoplasia with lower-limb arthrogryposis
|
[NCBI]
|
6.93796e-05
|
|
|
cerebral malformation, seizures, hypertrichosis, and overlapping fingers
|
[NCBI]
|
6.93796e-05
|
|
|
ascites, chylous
|
[NCBI]
|
6.93796e-05
|
|
|
limb deficiencies, distal, with micrognathia
|
[NCBI]
|
6.93796e-05
|
|
|
fibromatosis, gingival, with distinctive facies
|
[NCBI]
|
6.93796e-05
|
|
|
aural atresia, multiple congenital anomalies, and mental retardation
|
[NCBI]
|
6.93796e-05
|
|
|
myasthenia, congenital, refractory to acetylcholinesterase inhibitors
|
[NCBI]
|
6.93796e-05
|
|
|
spastic paraplegia, optic atrophy, microcephaly, and xy sex reversal
|
[NCBI]
|
6.93796e-05
|
|
|
liver fibrocystic disease and polydactyly
|
[NCBI]
|
6.93796e-05
|
|
|
chondrodysplasia-pseudohermaphroditism syndrome
|
[NCBI]
|
6.93796e-05
|
|
|
growth retardation, small and puffy hands and feet, and eczema
|
[NCBI]
|
6.93796e-05
|
|
|
myopia, infantile severe
|
[NCBI]
|
6.93796e-05
|
|
|
USH1C
|
[NCBI]
|
6.92508e-05
|
|
|
PTH
|
[NCBI]
|
6.87342e-05
|
|
|
LCA1
|
[NCBI]
|
6.79491e-05
|
|
|
COL11A2
|
[NCBI]
|
6.79133e-05
|
|
|
PCDH15
|
[NCBI]
|
6.79133e-05
|
|
|
migraine with or without aura, susceptibility to, 1
|
[NCBI]
|
6.70704e-05
|
|
|
EPO
|
[NCBI]
|
6.69893e-05
|
|
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
6.60177e-05
|
|
|
plasmodium falciparum blood infection level
|
[NCBI]
|
6.60177e-05
|
|
|
graves disease, susceptibility to, 2
|
[NCBI]
|
6.60177e-05
|
|
|
lethal congenital contracture syndrome 1
|
[NCBI]
|
6.60177e-05
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
6.60177e-05
|
|
|
EFMR
|
[NCBI]
|
6.60177e-05
|
|
|
CORD7
|
[NCBI]
|
6.60177e-05
|
|
|
acromegaloid facial appearance syndrome
|
[NCBI]
|
6.60177e-05
|
|
|
JBTS2
|
[NCBI]
|
6.60177e-05
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
6.60177e-05
|
|
|
pelizaeus-merzbacher-like disease, autosomal recessive, 2
|
[NCBI]
|
6.60177e-05
|
|
|
HTC2
|
[NCBI]
|
6.60177e-05
|
|
|
CVID
|
[NCBI]
|
6.56743e-05
|
|
|
GJB6
|
[NCBI]
|
6.54539e-05
|
|
|
vitamin d-dependent rickets, type i
|
[NCBI]
|
6.54305e-05
|
|
|
dent disease 1
|
[NCBI]
|
6.54305e-05
|
|
|
CTHM
|
[NCBI]
|
6.54305e-05
|
|
|
MTS
|
[NCBI]
|
6.54305e-05
|
|
|
BMD
|
[NCBI]
|
6.53294e-05
|
|
|
tibial hemimelia
|
[NCBI]
|
6.48037e-05
|
|
|
LGMD2F
|
[NCBI]
|
6.48037e-05
|
|
|
ATCAY
|
[NCBI]
|
6.48037e-05
|
|
|
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
|
[NCBI]
|
6.48037e-05
|
|
|
arthrogryposis, renal dysfunction, and cholestasis
|
[NCBI]
|
6.48037e-05
|
|
|
MRT1
|
[NCBI]
|
6.48037e-05
|
|
|
cataract, lamellar
|
[NCBI]
|
6.48037e-05
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
6.48037e-05
|
|
|
CCK
|
[NCBI]
|
6.47916e-05
|
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
[NCBI]
|
6.39494e-05
|
|
|
RB1
|
[NCBI]
|
6.3915e-05
|
|
|
CENPJ
|
[NCBI]
|
6.38961e-05
|
|
|
HYLS1
|
[NCBI]
|
6.34882e-05
|
|
|
cytochrome p450, family 4, subfamily v, polypeptide 2
|
[NCBI]
|
6.34882e-05
|
|
|
HSAS
|
[NCBI]
|
6.2795e-05
|
|
|
RP2
|
[NCBI]
|
6.21738e-05
|
|
|
severe combined immunodeficiency with sensitivity to ionizing radiation
|
[NCBI]
|
6.17563e-05
|
|
|
AFD1
|
[NCBI]
|
6.17563e-05
|
|
|
MYO5A
|
[NCBI]
|
6.12175e-05
|
|
|
SLC3A1
|
[NCBI]
|
6.12175e-05
|
|
|
TGM1
|
[NCBI]
|
6.12175e-05
|
|
|
LRP5
|
[NCBI]
|
6.12175e-05
|
|
|
RTT
|
[NCBI]
|
5.99455e-05
|
|
|
EDMD
|
[NCBI]
|
5.97139e-05
|
|
|
COL4A3
|
[NCBI]
|
5.93659e-05
|
|
|
ALMS1
|
[NCBI]
|
5.90979e-05
|
|
|
OPTB3
|
[NCBI]
|
5.83716e-05
|
|
|
periodontitis, aggressive, 1
|
[NCBI]
|
5.83716e-05
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
5.83716e-05
|
|
|
SPG2
|
[NCBI]
|
5.83716e-05
|
|
|
NRCLP1
|
[NCBI]
|
5.81193e-05
|
|
|
KNO
|
[NCBI]
|
5.80524e-05
|
|
|
TD2
|
[NCBI]
|
5.80524e-05
|
|
|
three m syndrome
|
[NCBI]
|
5.80524e-05
|
|
|
wolfram syndrome, mitochondrial form
|
[NCBI]
|
5.80524e-05
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
5.80524e-05
|
|
|
CCA2
|
[NCBI]
|
5.80524e-05
|
|
|
AOII
|
[NCBI]
|
5.80524e-05
|
|
|
HGPPS
|
[NCBI]
|
5.80524e-05
|
|
|
CZP3
|
[NCBI]
|
5.80524e-05
|
|
|
LSFC
|
[NCBI]
|
5.80524e-05
|
|
|
DYT1
|
[NCBI]
|
5.79629e-05
|
|
|
SGCG
|
[NCBI]
|
5.71226e-05
|
|
|
MYP2
|
[NCBI]
|
5.60298e-05
|
|
|
RBS
|
[NCBI]
|
5.59397e-05
|
|
|
MYO15A
|
[NCBI]
|
5.53514e-05
|
|
|
COL4A4
|
[NCBI]
|
5.53514e-05
|
|
|
GFAP
|
[NCBI]
|
5.49625e-05
|
|
|
oca2 gene
|
[NCBI]
|
5.45885e-05
|
|
|
SPINK5
|
[NCBI]
|
5.37461e-05
|
|
|
GALNT3
|
[NCBI]
|
5.37461e-05
|
|
|
PAPSS2
|
[NCBI]
|
5.37461e-05
|
|
|
ACHE
|
[NCBI]
|
5.33309e-05
|
|
|
GDXY
|
[NCBI]
|
5.25394e-05
|
|
|
NPHP2
|
[NCBI]
|
5.24632e-05
|
|
|
AOI
|
[NCBI]
|
5.24632e-05
|
|
|
vitiligo
|
[NCBI]
|
5.24632e-05
|
|
|
EPD
|
[NCBI]
|
5.24632e-05
|
|
|
vacterl association with hydrocephalus, x-linked
|
[NCBI]
|
5.24632e-05
|
|
|
mal de meleda
|
[NCBI]
|
5.24632e-05
|
|
|
short syndrome
|
[NCBI]
|
5.24632e-05
|
|
|
AMDM
|
[NCBI]
|
5.24632e-05
|
|
|
ABCC8
|
[NCBI]
|
5.23393e-05
|
|
|
BFLS
|
[NCBI]
|
5.23317e-05
|
|
|
HIDS
|
[NCBI]
|
5.23317e-05
|
|
|
CBAVD
|
[NCBI]
|
5.23317e-05
|
|
|
PLEKHG5
|
[NCBI]
|
5.21563e-05
|
|
|
CERKL
|
[NCBI]
|
5.21563e-05
|
|
|
ABCC6
|
[NCBI]
|
5.18969e-05
|
|
|
costello syndrome
|
[NCBI]
|
5.18614e-05
|
|
|
SPG3A
|
[NCBI]
|
5.18614e-05
|
|
|
obesity
|
[NCBI]
|
5.14909e-05
|
|
|
ASPA
|
[NCBI]
|
5.12729e-05
|
|
|
SLC4A1
|
[NCBI]
|
5.10947e-05
|
|
|
MSS
|
[NCBI]
|
4.96212e-05
|
|
|
SLC26A2
|
[NCBI]
|
4.85103e-05
|
|
|
CYBA
|
[NCBI]
|
4.85103e-05
|
|
|
NCF1
|
[NCBI]
|
4.85103e-05
|
|
|
MM
|
[NCBI]
|
4.81189e-05
|
|
|
osteogenic sarcoma
|
[NCBI]
|
4.77179e-05
|
|
|
xx male syndrome
|
[NCBI]
|
4.77179e-05
|
|
|
GGM
|
[NCBI]
|
4.77179e-05
|
|
|
cutis laxa, autosomal dominant
|
[NCBI]
|
4.77179e-05
|
|
|
immunoosseous dysplasia, schimke type
|
[NCBI]
|
4.77179e-05
|
|
|
OCA3
|
[NCBI]
|
4.77179e-05
|
|
|
DMC
|
[NCBI]
|
4.77179e-05
|
|
|
RNS
|
[NCBI]
|
4.77179e-05
|
|
|
crigler-najjar syndrome, type ii
|
[NCBI]
|
4.77179e-05
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
4.76622e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
4.74406e-05
|
|
|
orotic aciduria i
|
[NCBI]
|
4.74199e-05
|
|
|
MYO6
|
[NCBI]
|
4.74199e-05
|
|
|
ROR2
|
[NCBI]
|
4.74199e-05
|
|
|
CDPX1
|
[NCBI]
|
4.70878e-05
|
|
|
NHS
|
[NCBI]
|
4.70878e-05
|
|
|
mismatch repair cancer syndrome
|
[NCBI]
|
4.70878e-05
|
|
|
LRP4
|
[NCBI]
|
4.70504e-05
|
|
|
PREPL
|
[NCBI]
|
4.70504e-05
|
|
|
GLRA1
|
[NCBI]
|
4.63956e-05
|
|
|
FIH
|
[NCBI]
|
4.63608e-05
|
|
|
SMA3
|
[NCBI]
|
4.63608e-05
|
|
|
MEB
|
[NCBI]
|
4.63608e-05
|
|
|
kartagener syndrome
|
[NCBI]
|
4.63608e-05
|
|
|
CTSC
|
[NCBI]
|
4.5862e-05
|
|
|
G6PT1
|
[NCBI]
|
4.54301e-05
|
|
|
XRCC9
|
[NCBI]
|
4.54301e-05
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
4.53903e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
4.47137e-05
|
|
|
donohue syndrome
|
[NCBI]
|
4.47137e-05
|
|
|
CHAC
|
[NCBI]
|
4.47137e-05
|
|
|
megaloblastic anemia 1
|
[NCBI]
|
4.47137e-05
|
|
|
OCA1A
|
[NCBI]
|
4.46724e-05
|
|
|
AIS
|
[NCBI]
|
4.41454e-05
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
4.3756e-05
|
|
|
spondyloepimetaphyseal dysplasia with multiple dislocations
|
[NCBI]
|
4.3756e-05
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
4.3756e-05
|
|
|
peho syndrome
|
[NCBI]
|
4.3756e-05
|
|
|
hereditary motor and sensory neuropathy v
|
[NCBI]
|
4.3756e-05
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
4.3756e-05
|
|
|
ACC
|
[NCBI]
|
4.3756e-05
|
|
|
stature as a quantitative trait
|
[NCBI]
|
4.3756e-05
|
|
|
blood group--lutheran inhibitor
|
[NCBI]
|
4.3756e-05
|
|
|
myopathy with deficiency of succinate dehydrogenase and aconitase
|
[NCBI]
|
4.3756e-05
|
|
|
dysgnathia complex
|
[NCBI]
|
4.3756e-05
|
|
|
HR
|
[NCBI]
|
4.36517e-05
|
|
|
sialuria
|
[NCBI]
|
4.36138e-05
|
|
|
kindler syndrome
|
[NCBI]
|
4.36138e-05
|
|
|
argininemia
|
[NCBI]
|
4.36138e-05
|
|
|
WZS
|
[NCBI]
|
4.36138e-05
|
|
|
alport syndrome, autosomal recessive
|
[NCBI]
|
4.36138e-05
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
4.36138e-05
|
|
|
CDK5RAP2
|
[NCBI]
|
4.35543e-05
|
|
|
SLC5A2
|
[NCBI]
|
4.35543e-05
|
|
|
STRC
|
[NCBI]
|
4.35543e-05
|
|
|
MMP20
|
[NCBI]
|
4.35543e-05
|
|
|
multiple coagulation factor deficiency protein 2
|
[NCBI]
|
4.35543e-05
|
|
|
SH3TC2
|
[NCBI]
|
4.35543e-05
|
|
|
BFSP1
|
[NCBI]
|
4.35543e-05
|
|
|
ST3
|
[NCBI]
|
4.31611e-05
|
|
|
CTNS
|
[NCBI]
|
4.30496e-05
|
|
|
MC2R
|
[NCBI]
|
4.28288e-05
|
|
|
MLC
|
[NCBI]
|
4.24835e-05
|
|
|
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|
[NCBI]
|
4.24835e-05
|
|
|
AGS2
|
[NCBI]
|
4.22435e-05
|
|
|
cleft lip/palate with abnormal thumbs and microcephaly
|
[NCBI]
|
4.22435e-05
|
|
|
NFTC
|
[NCBI]
|
4.22435e-05
|
|
|
eem syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
spondyloocular syndrome, autosomal recessive
|
[NCBI]
|
4.22435e-05
|
|
|
eiken skeletal dysplasia
|
[NCBI]
|
4.22435e-05
|
|
|
tetra-amelia, autosomal recessive
|
[NCBI]
|
4.22435e-05
|
|
|
gurrieri syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
ichthyosiform erythroderma, corneal involvement, and deafness
|
[NCBI]
|
4.22435e-05
|
|
|
thanatophoric dysplasia, glasgow variant
|
[NCBI]
|
4.22435e-05
|
|
|
mast syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
devriendt syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
deafness, congenital, with total albinism
|
[NCBI]
|
4.22435e-05
|
|
|
hypoplastic left heart syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
testicular torsion
|
[NCBI]
|
4.22435e-05
|
|
|
hypophosphatasia, childhood
|
[NCBI]
|
4.22435e-05
|
|
|
cataract, lamellar 2
|
[NCBI]
|
4.22435e-05
|
|
|
thalamic degeneration, symmetric infantile
|
[NCBI]
|
4.22435e-05
|
|
|
ichthyosis hystrix gravior
|
[NCBI]
|
4.22435e-05
|
|
|
craniomicromelic syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
achondrogenesis, type iii
|
[NCBI]
|
4.22435e-05
|
|
|
SCAR8
|
[NCBI]
|
4.22435e-05
|
|
|
MEN4
|
[NCBI]
|
4.22435e-05
|
|
|
heterotopia, periventricular, autosomal recessive
|
[NCBI]
|
4.22435e-05
|
|
|
craniosynostosis with fibular aplasia
|
[NCBI]
|
4.22435e-05
|
|
|
arthrogryposis multiplex congenita with whistling face
|
[NCBI]
|
4.22435e-05
|
|
|
retinopathy, pericentral pigmentary, autosomal recessive
|
[NCBI]
|
4.22435e-05
|
|
|
gynecomastia, familial
|
[NCBI]
|
4.22435e-05
|
|
|
infertile male syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
spondylometaepiphyseal dysplasia, short limb-hand type
|
[NCBI]
|
4.22435e-05
|
|
|
dandy-walker malformation with postaxial polydactyly
|
[NCBI]
|
4.22435e-05
|
|
|
albinism, ocular, with sensorineural deafness
|
[NCBI]
|
4.22435e-05
|
|
|
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
|
[NCBI]
|
4.22435e-05
|
|
|
myoclonic epilepsy, progressive
|
[NCBI]
|
4.22435e-05
|
|
|
chondrodysplasia punctata syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
CMT2K
|
[NCBI]
|
4.22435e-05
|
|
|
spondylometaphyseal dysplasia with dentinogenesis imperfecta
|
[NCBI]
|
4.22435e-05
|
|
|
ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum
|
[NCBI]
|
4.22435e-05
|
|
|
acrocephalopolysyndactyly type iv
|
[NCBI]
|
4.22435e-05
|
|
|
deafness, cochlear, with myopia and intellectual impairment
|
[NCBI]
|
4.22435e-05
|
|
|
torticollis
|
[NCBI]
|
4.22435e-05
|
|
|
peeling skin syndrome, acral type
|
[NCBI]
|
4.22435e-05
|
|
|
NFRCD
|
[NCBI]
|
4.22435e-05
|
|
|
nephropathy with pretibial epidermolysis bullosa and deafness
|
[NCBI]
|
4.22435e-05
|
|
|
cahmr syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
OFD7
|
[NCBI]
|
4.22435e-05
|
|
|
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease
|
[NCBI]
|
4.22435e-05
|
|
|
ataxia-deafness-retardation syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
paine syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
bronchiectasis
|
[NCBI]
|
4.22435e-05
|
|
|
CMH8
|
[NCBI]
|
4.22435e-05
|
|
|
ehlers-danlos syndrome, autosomal recessive, cardiac valvular form
|
[NCBI]
|
4.22435e-05
|
|
|
thyroglossal duct cyst, familial
|
[NCBI]
|
4.22435e-05
|
|
|
carnevale syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
CLSD
|
[NCBI]
|
4.22435e-05
|
|
|
brachyrachia
|
[NCBI]
|
4.22435e-05
|
|
|
thymic-renal-anal-lung dysplasia
|
[NCBI]
|
4.22435e-05
|
|
|
SPG5B
|
[NCBI]
|
4.22435e-05
|
|
|
3-@methylglutaconic aciduria, type iv
|
[NCBI]
|
4.22435e-05
|
|
|
craniofacial dysmorphism with ocular coloboma, absent corpus callosum, and aortic dilatation
|
[NCBI]
|
4.22435e-05
|
|
|
fibromatosis, gingival, with hypertrichosis
|
[NCBI]
|
4.22435e-05
|
|
|
DHS
|
[NCBI]
|
4.22435e-05
|
|
|
retinopathy, pericentral pigmentary, dominant
|
[NCBI]
|
4.22435e-05
|
|
|
GS3
|
[NCBI]
|
4.22435e-05
|
|
|
DFNB49
|
[NCBI]
|
4.22435e-05
|
|
|
gombo syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
achondrogenesis, type iv
|
[NCBI]
|
4.22435e-05
|
|
|
lambert syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
amish infantile epilepsy syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
SCDO3
|
[NCBI]
|
4.22435e-05
|
|
|
c-like syndrome
|
[NCBI]
|
4.22435e-05
|
|
|
XMPMA
|
[NCBI]
|
4.22435e-05
|
|
|
acrofrontofacionasal dysostosis, severe
|
[NCBI]
|
4.22435e-05
|
|
|
lissencephaly type iii and bone dysplasia
|
[NCBI]
|
4.22435e-05
|
|
|
DFNB28
|
[NCBI]
|
4.22435e-05
|
|
|
prader-willi habitus, osteopenia, and camptodactyly
|
[NCBI]
|
4.22435e-05
|
|
|
reticular dystrophy of retinal pigment epithelium
|
[NCBI]
|
4.22435e-05
|
|
|
dextrocardia with unusual facies and microphthalmia
|
[NCBI]
|
4.22435e-05
|
|
|
chorea, benign familial
|
[NCBI]
|
4.22435e-05
|
|
|
APTX
|
[NCBI]
|
4.20448e-05
|
|
|
RPE65
|
[NCBI]
|
4.20448e-05
|
|
|
AUH
|
[NCBI]
|
4.08818e-05
|
|
|
MOCS1
|
[NCBI]
|
4.08818e-05
|
|
|
NPHS2
|
[NCBI]
|
4.08818e-05
|
|
|
GRM6
|
[NCBI]
|
4.08818e-05
|
|
|
MFRP
|
[NCBI]
|
4.08818e-05
|
|
|
SLC4A11
|
[NCBI]
|
4.08818e-05
|
|
|
CRTAP
|
[NCBI]
|
4.08818e-05
|
|
|
BBS1
|
[NCBI]
|
4.08818e-05
|
|
|
EEF1A2
|
[NCBI]
|
4.08818e-05
|
|
|
myeloperoxidase deficiency
|
[NCBI]
|
4.00139e-05
|
|
|
PHA1
|
[NCBI]
|
4.00139e-05
|
|
|
BDC
|
[NCBI]
|
4.00139e-05
|
|
|
SCAR1
|
[NCBI]
|
4.00139e-05
|
|
|
UGT1A1
|
[NCBI]
|
3.89987e-05
|
|
|
NHS
|
[NCBI]
|
3.87163e-05
|
|
|
CRYM
|
[NCBI]
|
3.87163e-05
|
|
|
SLURP1
|
[NCBI]
|
3.87163e-05
|
|
|
FGD4
|
[NCBI]
|
3.87163e-05
|
|
|
WHRN
|
[NCBI]
|
3.87163e-05
|
|
|
NEM3
|
[NCBI]
|
3.84041e-05
|
|
|
BLM
|
[NCBI]
|
3.75013e-05
|
|
|
prostate cancer
|
[NCBI]
|
3.72116e-05
|
|
|
AQP2
|
[NCBI]
|
3.70374e-05
|
|
|
VKORC1
|
[NCBI]
|
3.6896e-05
|
|
|
CLDN14
|
[NCBI]
|
3.6896e-05
|
|
|
EVC2
|
[NCBI]
|
3.6896e-05
|
|
|
SLC39A4
|
[NCBI]
|
3.6896e-05
|
|
|
FANCE
|
[NCBI]
|
3.6896e-05
|
|
|
KCNJ11
|
[NCBI]
|
3.68386e-05
|
|
|
HOMG
|
[NCBI]
|
3.68207e-05
|
|
|
corticosterone methyloxidase type ii deficiency
|
[NCBI]
|
3.68207e-05
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
3.68207e-05
|
|
|
LGMD2H
|
[NCBI]
|
3.68207e-05
|
|
|
lipoid proteinosis of urbach and wiethe
|
[NCBI]
|
3.68207e-05
|
|
|
SMA2
|
[NCBI]
|
3.65335e-05
|
|
|
ALPL
|
[NCBI]
|
3.6291e-05
|
|
|
CAT
|
[NCBI]
|
3.61078e-05
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
3.59784e-05
|
|
|
DYSF
|
[NCBI]
|
3.57615e-05
|
|
|
wilson disease
|
[NCBI]
|
3.56513e-05
|
|
|
APOE
|
[NCBI]
|
3.56311e-05
|
|
|
MPO
|
[NCBI]
|
3.55832e-05
|
|
|
CRLF1
|
[NCBI]
|
3.53262e-05
|
|
|
MKKS
|
[NCBI]
|
3.53262e-05
|
|
|
LEPRE1
|
[NCBI]
|
3.53262e-05
|
|
|
PTF1A
|
[NCBI]
|
3.53262e-05
|
|
|
CASQ2
|
[NCBI]
|
3.53262e-05
|
|
|
TSD
|
[NCBI]
|
3.5161e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
3.50587e-05
|
|
|
behcet syndrome
|
[NCBI]
|
3.48353e-05
|
|
|
RCDP1
|
[NCBI]
|
3.47635e-05
|
|
|
OPTB1
|
[NCBI]
|
3.47635e-05
|
|
|
OKS
|
[NCBI]
|
3.47635e-05
|
|
|
NBS1
|
[NCBI]
|
3.47522e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
3.42706e-05
|
|
|
restless legs syndrome, susceptibility to, 1
|
[NCBI]
|
3.41512e-05
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
3.39629e-05
|
|
|
DSMA1
|
[NCBI]
|
3.39629e-05
|
|
|
MLPH
|
[NCBI]
|
3.39469e-05
|
|
|
BBS4
|
[NCBI]
|
3.39469e-05
|
|
|
SLC19A2
|
[NCBI]
|
3.39469e-05
|
|
|
TUB
|
[NCBI]
|
3.39469e-05
|
|
|
LMAN1
|
[NCBI]
|
3.39469e-05
|
|
|
AVPR2
|
[NCBI]
|
3.38032e-05
|
|
|
MRX1
|
[NCBI]
|
3.36893e-05
|
|
|
FANCA
|
[NCBI]
|
3.33492e-05
|
|
|
PPSH
|
[NCBI]
|
3.30864e-05
|
|
|
FANCC
|
[NCBI]
|
3.29079e-05
|
|
|
RS1
|
[NCBI]
|
3.29079e-05
|
|
|
PDE6B
|
[NCBI]
|
3.29079e-05
|
|
|
INSIG2
|
[NCBI]
|
3.27172e-05
|
|
|
SGCB
|
[NCBI]
|
3.27172e-05
|
|
|
MDM1
|
[NCBI]
|
3.27172e-05
|
|
|
AAAS
|
[NCBI]
|
3.27172e-05
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
3.24787e-05
|
|
|
DFNB67
|
[NCBI]
|
3.23981e-05
|
|
|
homocarnosinosis
|
[NCBI]
|
3.23981e-05
|
|
|
DFNB21
|
[NCBI]
|
3.23981e-05
|
|
|
pulmonary hypertension, familial persistent, of the newborn
|
[NCBI]
|
3.23981e-05
|
|
|
dyskeratosis congenita, autosomal recessive
|
[NCBI]
|
3.23981e-05
|
|
|
progeroid short stature with pigmented nevi
|
[NCBI]
|
3.23981e-05
|
|
|
limb defects, distal transverse, with mental retardation and spasticity
|
[NCBI]
|
3.23981e-05
|
|
|
HOMG4
|
[NCBI]
|
3.23981e-05
|
|
|
toenail dystrophy, isolated
|
[NCBI]
|
3.23981e-05
|
|
|
muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
|
[NCBI]
|
3.23981e-05
|
|
|
glomerulocystic kidney disease with hyperuricemia and isosthenuria
|
[NCBI]
|
3.23981e-05
|
|
|
LBSL
|
[NCBI]
|
3.23981e-05
|
|
|
SERKAL
|
[NCBI]
|
3.23981e-05
|
|
|
epidermolysis bullosa, pretibial
|
[NCBI]
|
3.23981e-05
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
3.23981e-05
|
|
|
DFNA36
|
[NCBI]
|
3.23981e-05
|
|
|
retinohepatoendocrinologic syndrome
|
[NCBI]
|
3.23981e-05
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
3.23981e-05
|
|
|
pterygium syndrome, multiple, x-linked
|
[NCBI]
|
3.23981e-05
|
|
|
muscular dystrophy, hemizygous lethal type
|
[NCBI]
|
3.23981e-05
|
|
|
al-gazali syndrome
|
[NCBI]
|
3.23981e-05
|
|
|
ABSD
|
[NCBI]
|
3.23981e-05
|
|
|
tricuspid atresia
|
[NCBI]
|
3.23981e-05
|
|
|
spherocytosis, autosomal recessive
|
[NCBI]
|
3.23981e-05
|
|
|
spondylocostal dysostosis with anal atresia and urogenital anomalies
|
[NCBI]
|
3.23981e-05
|
|
|
ARTS
|
[NCBI]
|
3.23981e-05
|
|
|
MCOPCB3
|
[NCBI]
|
3.23981e-05
|
|
|
pelvis-shoulder dysplasia
|
[NCBI]
|
3.23981e-05
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
3.23981e-05
|
|
|
isovaleric acid, inability to smell
|
[NCBI]
|
3.23981e-05
|
|
|
sertoli cell-only syndrome
|
[NCBI]
|
3.23981e-05
|
|
|
brunner syndrome
|
[NCBI]
|
3.23981e-05
|
|
|
micromelic bone dysplasia with cloverleaf skull
|
[NCBI]
|
3.23981e-05
|
|
|
DFNB16
|
[NCBI]
|
3.23981e-05
|
|
|
diabetes mellitus, permanent neonatal, with cerebellar agenesis
|
[NCBI]
|
3.23981e-05
|
|
|
sodium-potassium-atpase activity of red cell
|
[NCBI]
|
3.23981e-05
|
|
|
majeed syndrome
|
[NCBI]
|
3.23981e-05
|
|
|
SMC
|
[NCBI]
|
3.23981e-05
|
|
|
mental retardation, x-linked, snyder-robinson type
|
[NCBI]
|
3.23981e-05
|
|
|
deafness, sensorineural, and male infertility
|
[NCBI]
|
3.23981e-05
|
|
|
neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
|
[NCBI]
|
3.23981e-05
|
|
|
zunich neuroectodermal syndrome
|
[NCBI]
|
3.23981e-05
|
|
|
aprosencephaly syndrome
|
[NCBI]
|
3.23981e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
3.20398e-05
|
|
|
pantothenate kinase 3
|
[NCBI]
|
3.17416e-05
|
|
|
otopetrin 3
|
[NCBI]
|
3.17416e-05
|
|
|
AASS
|
[NCBI]
|
3.17416e-05
|
|
|
otopetrin 1
|
[NCBI]
|
3.17416e-05
|
|
|
otopetrin 2
|
[NCBI]
|
3.17416e-05
|
|
|
TMC2
|
[NCBI]
|
3.17416e-05
|
|
|
SLC19A3
|
[NCBI]
|
3.17416e-05
|
|
|
OR1F1
|
[NCBI]
|
3.17416e-05
|
|
|
x123 gene
|
[NCBI]
|
3.17416e-05
|
|
|
thrombocytosis, familial x-linked
|
[NCBI]
|
3.17416e-05
|
|
|
ZFAND5
|
[NCBI]
|
3.17416e-05
|
|
|
ADAMTS10
|
[NCBI]
|
3.17416e-05
|
|
|
pantothenate kinase 1
|
[NCBI]
|
3.17416e-05
|
|
|
PSMD7
|
[NCBI]
|
3.17416e-05
|
|
|
MBP
|
[NCBI]
|
3.17336e-05
|
|
|
RFX5
|
[NCBI]
|
3.16084e-05
|
|
|
MCPH1
|
[NCBI]
|
3.16084e-05
|
|
|
ASPM
|
[NCBI]
|
3.16084e-05
|
|
|
BFSP2
|
[NCBI]
|
3.16084e-05
|
|
|
FMN
|
[NCBI]
|
3.16084e-05
|
|
|
PITX3
|
[NCBI]
|
3.16084e-05
|
|
|
CNGB1
|
[NCBI]
|
3.16084e-05
|
|
|
MERTK
|
[NCBI]
|
3.16084e-05
|
|
|
COL1A2
|
[NCBI]
|
3.13943e-05
|
|
|
SCZD9
|
[NCBI]
|
3.13863e-05
|
|
|
GCCD1
|
[NCBI]
|
3.13863e-05
|
|
|
LGMD2I
|
[NCBI]
|
3.13863e-05
|
|
|
sitosterolemia
|
[NCBI]
|
3.13863e-05
|
|
|
diabetes insipidus, nephrogenic, autosomal
|
[NCBI]
|
3.13863e-05
|
|
|
tetralogy of fallot
|
[NCBI]
|
3.13863e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
3.08874e-05
|
|
|
MPZ
|
[NCBI]
|
3.07083e-05
|
|
|
COL6A2
|
[NCBI]
|
3.05991e-05
|
|
|
CRYGC
|
[NCBI]
|
3.05991e-05
|
|
|
RPGRIP1
|
[NCBI]
|
3.05991e-05
|
|
|
ATP2A1
|
[NCBI]
|
3.05991e-05
|
|
|
SGCD
|
[NCBI]
|
3.05991e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
3.01258e-05
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
2.99837e-05
|
|
|
DKC
|
[NCBI]
|
2.99837e-05
|
|
|
MFS
|
[NCBI]
|
2.98987e-05
|
|
|
DGS
|
[NCBI]
|
2.97566e-05
|
|
|
MCOLN1
|
[NCBI]
|
2.96734e-05
|
|
|
IKBKAP
|
[NCBI]
|
2.96734e-05
|
|
|
alsin
|
[NCBI]
|
2.96734e-05
|
|
|
hypophosphatasia, adult type
|
[NCBI]
|
2.90489e-05
|
|
|
propionic acidemia
|
[NCBI]
|
2.90489e-05
|
|
|
myotonia congenita, autosomal dominant
|
[NCBI]
|
2.90489e-05
|
|
|
omenn syndrome
|
[NCBI]
|
2.90489e-05
|
|
|
CHNG1
|
[NCBI]
|
2.90489e-05
|
|
|
LMNA
|
[NCBI]
|
2.89936e-05
|
|
|
3-@hydroxy-3-methylglutaryl-coa lyase deficiency
|
[NCBI]
|
2.88187e-05
|
|
|
EPM2A
|
[NCBI]
|
2.88187e-05
|
|
|
KRT10
|
[NCBI]
|
2.88187e-05
|
|
|
KSS
|
[NCBI]
|
2.80581e-05
|
|
|
PDC
|
[NCBI]
|
2.80251e-05
|
|
|
PKHD1
|
[NCBI]
|
2.80251e-05
|
|
|
oncogene dj1
|
[NCBI]
|
2.80251e-05
|
|
|
POMT1
|
[NCBI]
|
2.80251e-05
|
|
|
maxillonasal dysplasia, binder type
|
[NCBI]
|
2.79836e-05
|
|
|
nephrolithiasis, calcium oxalate
|
[NCBI]
|
2.79836e-05
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
2.79836e-05
|
|
|
AUTS4
|
[NCBI]
|
2.79836e-05
|
|
|
PHP
|
[NCBI]
|
2.79836e-05
|
|
|
NYS2
|
[NCBI]
|
2.79836e-05
|
|
|
MEAX
|
[NCBI]
|
2.79836e-05
|
|
|
cluster headache, familial
|
[NCBI]
|
2.79836e-05
|
|
|
RLBP1
|
[NCBI]
|
2.74635e-05
|
|
|
TH
|
[NCBI]
|
2.74342e-05
|
|
|
PANK2
|
[NCBI]
|
2.72848e-05
|
|
|
LRAT
|
[NCBI]
|
2.72848e-05
|
|
|
RAPSN
|
[NCBI]
|
2.72848e-05
|
|
|
CPS1
|
[NCBI]
|
2.72848e-05
|
|
|
lecithin:cholesterol acyltransferase deficiency
|
[NCBI]
|
2.69176e-05
|
|
|
ehlers-danlos syndrome, type vi
|
[NCBI]
|
2.69176e-05
|
|
|
PARK6
|
[NCBI]
|
2.69176e-05
|
|
|
NBIA1
|
[NCBI]
|
2.69176e-05
|
|
|
DLL3
|
[NCBI]
|
2.65913e-05
|
|
|
carboxypeptidase n deficiency
|
[NCBI]
|
2.62281e-05
|
|
|
glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
|
[NCBI]
|
2.62281e-05
|
|
|
hereditary motor and sensory neuropathy vi
|
[NCBI]
|
2.62281e-05
|
|
|
MLASA
|
[NCBI]
|
2.62281e-05
|
|
|
TBDN
|
[NCBI]
|
2.62281e-05
|
|
|
gonadal agenesis
|
[NCBI]
|
2.62281e-05
|
|
|
FANCI
|
[NCBI]
|
2.62281e-05
|
|
|
papilloma of choroid plexus
|
[NCBI]
|
2.62281e-05
|
|
|
charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive
|
[NCBI]
|
2.62281e-05
|
|
|
pseudohermaphroditism, incomplete male, type i
|
[NCBI]
|
2.62281e-05
|
|
|
immunodeficiency with hyper-igm, type 2
|
[NCBI]
|
2.62281e-05
|
|
|
fanconi anemia, complementation group j
|
[NCBI]
|
2.62281e-05
|
|
|
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
|
[NCBI]
|
2.62281e-05
|
|
|
TS
|
[NCBI]
|
2.62281e-05
|
|
|
acth deficiency
|
[NCBI]
|
2.62281e-05
|
|
|
hydroxyprolinemia
|
[NCBI]
|
2.62281e-05
|
|
|
hyperlysinemia
|
[NCBI]
|
2.62281e-05
|
|
|
segawa syndrome, autosomal recessive
|
[NCBI]
|
2.62281e-05
|
|
|
SPG7
|
[NCBI]
|
2.62281e-05
|
|
|
immunodeficiency with hyper-igm, type 3
|
[NCBI]
|
2.62281e-05
|
|
|
laurence-moon syndrome
|
[NCBI]
|
2.62281e-05
|
|
|
BJS
|
[NCBI]
|
2.62281e-05
|
|
|
rheumatic fever-related antigen
|
[NCBI]
|
2.62281e-05
|
|
|
FIDD
|
[NCBI]
|
2.62281e-05
|
|
|
ACG1B
|
[NCBI]
|
2.62281e-05
|
|
|
corneal dystrophy and perceptive deafness
|
[NCBI]
|
2.62281e-05
|
|
|
pelizaeus-merzbacher-like disease, autosomal recessive, 1
|
[NCBI]
|
2.62281e-05
|
|
|
corpus callosum, partial agenesis of, x-linked
|
[NCBI]
|
2.62281e-05
|
|
|
raph blood group system
|
[NCBI]
|
2.62281e-05
|
|
|
nevo syndrome
|
[NCBI]
|
2.62281e-05
|
|
|
branchial arch syndrome, x-linked
|
[NCBI]
|
2.62281e-05
|
|
|
HHF3
|
[NCBI]
|
2.62281e-05
|
|
|
clubfoot
|
[NCBI]
|
2.62281e-05
|
|
|
ASAT
|
[NCBI]
|
2.62281e-05
|
|
|
leber congenital amaurosis, type iii
|
[NCBI]
|
2.62281e-05
|
|
|
nuchal bleb, familial
|
[NCBI]
|
2.62281e-05
|
|
|
ectopia lentis
|
[NCBI]
|
2.62281e-05
|
|
|
simpson-golabi-behmel syndrome, type 2
|
[NCBI]
|
2.62281e-05
|
|
|
LGMD2K
|
[NCBI]
|
2.62281e-05
|
|
|
MCOP2
|
[NCBI]
|
2.62281e-05
|
|
|
PURE&apos
|
[NCBI]
|
2.62281e-05
|
|
|
GLUD1
|
[NCBI]
|
2.59391e-05
|
|
|
SDS
|
[NCBI]
|
2.58605e-05
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
2.56254e-05
|
|
|
CFH
|
[NCBI]
|
2.54727e-05
|
|
|
SMAX1
|
[NCBI]
|
2.54707e-05
|
|
|
GUCY2D
|
[NCBI]
|
2.53239e-05
|
|
|
PCCB
|
[NCBI]
|
2.53239e-05
|
|
|
ACH
|
[NCBI]
|
2.5285e-05
|
|
|
EV
|
[NCBI]
|
2.5285e-05
|
|
|
PMP22
|
[NCBI]
|
2.49956e-05
|
|
|
MKKS
|
[NCBI]
|
2.49655e-05
|
|
|
DYT3
|
[NCBI]
|
2.49655e-05
|
|
|
alkaptonuria
|
[NCBI]
|
2.49655e-05
|
|
|
hydatidiform mole
|
[NCBI]
|
2.49655e-05
|
|
|
PHA
|
[NCBI]
|
2.49655e-05
|
|
|
diarrhea 1, secretory chloride, congenital
|
[NCBI]
|
2.49655e-05
|
|
|
neuropathy, congenital hypomyelinating
|
[NCBI]
|
2.49655e-05
|
|
|
dopamine beta-hydroxylase deficiency, congenital
|
[NCBI]
|
2.49655e-05
|
|
|
DBT
|
[NCBI]
|
2.47417e-05
|
|
|
NEB
|
[NCBI]
|
2.47417e-05
|
|
|
von willebrand disease
|
[NCBI]
|
2.43349e-05
|
|
|
NRL
|
[NCBI]
|
2.41894e-05
|
|
|
CUBN
|
[NCBI]
|
2.41894e-05
|
|
|
PEX7
|
[NCBI]
|
2.41894e-05
|
|
|
GPR54
|
[NCBI]
|
2.41894e-05
|
|
|
AHO
|
[NCBI]
|
2.35371e-05
|
|
|
FER1L3
|
[NCBI]
|
2.35227e-05
|
|
|
WNT10A
|
[NCBI]
|
2.35227e-05
|
|
|
NDUFV3
|
[NCBI]
|
2.35227e-05
|
|
|
MORC1
|
[NCBI]
|
2.35227e-05
|
|
|
FAM126A
|
[NCBI]
|
2.35227e-05
|
|
|
PPP1R3C
|
[NCBI]
|
2.35227e-05
|
|
|
PIGM
|
[NCBI]
|
2.35227e-05
|
|
|
SERF1A
|
[NCBI]
|
2.35227e-05
|
|
|
HIRIP5
|
[NCBI]
|
2.35227e-05
|
|
|
GABRG1
|
[NCBI]
|
2.35227e-05
|
|
|
PANK4
|
[NCBI]
|
2.35227e-05
|
|
|
MPP4
|
[NCBI]
|
2.35227e-05
|
|
|
DOK7
|
[NCBI]
|
2.35227e-05
|
|
|
NOX3
|
[NCBI]
|
2.35227e-05
|
|
|
TMIE
|
[NCBI]
|
2.35227e-05
|
|
|
PRCD
|
[NCBI]
|
2.35227e-05
|
|
|
OTOA
|
[NCBI]
|
2.35227e-05
|
|
|
BBS7
|
[NCBI]
|
2.35227e-05
|
|
|
ZNF79
|
[NCBI]
|
2.35227e-05
|
|
|
campomelic dysplasia
|
[NCBI]
|
2.34478e-05
|
|
|
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant
|
[NCBI]
|
2.3171e-05
|
|
|
properdin deficiency, x-linked
|
[NCBI]
|
2.3171e-05
|
|
|
weaver syndrome
|
[NCBI]
|
2.3171e-05
|
|
|
pituitary dwarfism i
|
[NCBI]
|
2.3171e-05
|
|
|
ATR
|
[NCBI]
|
2.31636e-05
|
|
|
GJB3
|
[NCBI]
|
2.31636e-05
|
|
|
CYP1B1
|
[NCBI]
|
2.31636e-05
|
|
|
bare lymphocyte syndrome, type ii
|
[NCBI]
|
2.28654e-05
|
|
|
CRYAA
|
[NCBI]
|
2.26856e-05
|
|
|
RHO
|
[NCBI]
|
2.24055e-05
|
|
|
CLN3
|
[NCBI]
|
2.23162e-05
|
|
|
CMTX1
|
[NCBI]
|
2.23162e-05
|
|
|
MIP
|
[NCBI]
|
2.22283e-05
|
|
|
FKRP
|
[NCBI]
|
2.22283e-05
|
|
|
ALD
|
[NCBI]
|
2.19566e-05
|
|
|
phenylketonuria
|
[NCBI]
|
2.18908e-05
|
|
|
schindler disease, type i
|
[NCBI]
|
2.18037e-05
|
|
|
RP7
|
[NCBI]
|
2.18037e-05
|
|
|
witkop syndrome
|
[NCBI]
|
2.18037e-05
|
|
|
carpenter syndrome
|
[NCBI]
|
2.18037e-05
|
|
|
MKS3
|
[NCBI]
|
2.18037e-05
|
|
|
cystinosis, adult nonnephropathic
|
[NCBI]
|
2.18037e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive
|
[NCBI]
|
2.18037e-05
|
|
|
iris coloboma with ptosis, hypertelorism, and mental retardation
|
[NCBI]
|
2.18037e-05
|
|
|
LCA2
|
[NCBI]
|
2.18037e-05
|
|
|
cystinosis, late-onset juvenile or adolescent nephropathic type
|
[NCBI]
|
2.18037e-05
|
|
|
desmosterolosis
|
[NCBI]
|
2.18037e-05
|
|
|
NAIC
|
[NCBI]
|
2.18037e-05
|
|
|
porencephaly, familial
|
[NCBI]
|
2.18037e-05
|
|
|
DFNA13
|
[NCBI]
|
2.18037e-05
|
|
|
NN
|
[NCBI]
|
2.18037e-05
|
|
|
ED3
|
[NCBI]
|
2.18037e-05
|
|
|
RP15
|
[NCBI]
|
2.18037e-05
|
|
|
APBD
|
[NCBI]
|
2.18037e-05
|
|
|
weyers acrofacial dysostosis
|
[NCBI]
|
2.18037e-05
|
|
|
pulmonary alveolar microlithiasis
|
[NCBI]
|
2.18037e-05
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
2.18037e-05
|
|
|
epidermolysis bullosa pruriginosa
|
[NCBI]
|
2.18037e-05
|
|
|
ramon syndrome
|
[NCBI]
|
2.18037e-05
|
|
|
eunuchoidism, familial hypogonadotropic
|
[NCBI]
|
2.18037e-05
|
|
|
3-@methylglutaconic aciduria, type iii
|
[NCBI]
|
2.18037e-05
|
|
|
PMS2
|
[NCBI]
|
2.17901e-05
|
|
|
MTM1
|
[NCBI]
|
2.17901e-05
|
|
|
pta deficiency
|
[NCBI]
|
2.17901e-05
|
|
|
TTDP
|
[NCBI]
|
2.15157e-05
|
|
|
VWM
|
[NCBI]
|
2.15157e-05
|
|
|
osteogenesis imperfecta, type iv
|
[NCBI]
|
2.15157e-05
|
|
|
ESCS
|
[NCBI]
|
2.15157e-05
|
|
|
CRYAB
|
[NCBI]
|
2.13695e-05
|
|
|
MVK
|
[NCBI]
|
2.13695e-05
|
|
|
GJA8
|
[NCBI]
|
2.09653e-05
|
|
|
TIMP3
|
[NCBI]
|
2.09653e-05
|
|
|
IFNGR1
|
[NCBI]
|
2.09653e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
2.07043e-05
|
|
|
KRT14
|
[NCBI]
|
2.05763e-05
|
|
|
factor v deficiency
|
[NCBI]
|
2.05636e-05
|
|
|
MTIF2
|
[NCBI]
|
2.04384e-05
|
|
|
SYT11
|
[NCBI]
|
2.04384e-05
|
|
|
CC2D1A
|
[NCBI]
|
2.04384e-05
|
|
|
PPM1B
|
[NCBI]
|
2.04384e-05
|
|
|
LHFPL5
|
[NCBI]
|
2.04384e-05
|
|
|
SMARCAL1
|
[NCBI]
|
2.04384e-05
|
|
|
ZNF200
|
[NCBI]
|
2.04384e-05
|
|
|
acidic cluster protein, 33-kd
|
[NCBI]
|
2.04384e-05
|
|
|
SUCLA2
|
[NCBI]
|
2.04384e-05
|
|
|
OTOG
|
[NCBI]
|
2.04384e-05
|
|
|
CCT4
|
[NCBI]
|
2.04384e-05
|
|
|
parathyroid hormone-responsive b1 gene
|
[NCBI]
|
2.04384e-05
|
|
|
MKS1
|
[NCBI]
|
2.04384e-05
|
|
|
SAMD9
|
[NCBI]
|
2.04384e-05
|
|
|
CACNA2D4
|
[NCBI]
|
2.04384e-05
|
|
|
ATP6V0E1
|
[NCBI]
|
2.04384e-05
|
|
|
CNO
|
[NCBI]
|
2.04384e-05
|
|
|
GABRG3
|
[NCBI]
|
2.04384e-05
|
|
|
LBX2
|
[NCBI]
|
2.04384e-05
|
|
|
VHL
|
[NCBI]
|
2.03606e-05
|
|
|
hemophagocytic lymphohistiocytosis, familial, 1
|
[NCBI]
|
2.02393e-05
|
|
|
aHUS
|
[NCBI]
|
2.02021e-05
|
|
|
PDS
|
[NCBI]
|
2.02021e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
2.02021e-05
|
|
|
TTN
|
[NCBI]
|
2.02014e-05
|
|
|
polycystic kidneys
|
[NCBI]
|
2.00915e-05
|
|
|
canavan disease
|
[NCBI]
|
1.99848e-05
|
|
|
masa syndrome
|
[NCBI]
|
1.99848e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive
|
[NCBI]
|
1.99848e-05
|
|
|
ADHD
|
[NCBI]
|
1.99244e-05
|
|
|
ALPS
|
[NCBI]
|
1.99244e-05
|
|
|
COL4A5
|
[NCBI]
|
1.98398e-05
|
|
|
FTL
|
[NCBI]
|
1.94906e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
1.94906e-05
|
|
|
MEFV
|
[NCBI]
|
1.94906e-05
|
|
|
ACADM
|
[NCBI]
|
1.94687e-05
|
|
|
DMD
|
[NCBI]
|
1.92442e-05
|
|
|
CPI
|
[NCBI]
|
1.91517e-05
|
|
|
GBA
|
[NCBI]
|
1.9141e-05
|
|
|
DBA
|
[NCBI]
|
1.90582e-05
|
|
|
giant platelet syndrome
|
[NCBI]
|
1.90582e-05
|
|
|
DNMT3B
|
[NCBI]
|
1.88265e-05
|
|
|
CGL2
|
[NCBI]
|
1.85653e-05
|
|
|
EDMD2
|
[NCBI]
|
1.85653e-05
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
1.85653e-05
|
|
|
osteogenesis imperfecta, type iii
|
[NCBI]
|
1.85653e-05
|
|
|
DND1
|
[NCBI]
|
1.84455e-05
|
|
|
LIPH
|
[NCBI]
|
1.84455e-05
|
|
|
RGS9BP
|
[NCBI]
|
1.84455e-05
|
|
|
BBS2
|
[NCBI]
|
1.84455e-05
|
|
|
EFEMP2
|
[NCBI]
|
1.84455e-05
|
|
|
RAB23
|
[NCBI]
|
1.84455e-05
|
|
|
SFRS7
|
[NCBI]
|
1.84455e-05
|
|
|
CTDP1
|
[NCBI]
|
1.84455e-05
|
|
|
MPDU1
|
[NCBI]
|
1.84455e-05
|
|
|
SMPD3
|
[NCBI]
|
1.84455e-05
|
|
|
L3MBTL
|
[NCBI]
|
1.84455e-05
|
|
|
ALOXE3
|
[NCBI]
|
1.84455e-05
|
|
|
SOX18
|
[NCBI]
|
1.84455e-05
|
|
|
ANGPTL2
|
[NCBI]
|
1.84455e-05
|
|
|
OXCT1
|
[NCBI]
|
1.84455e-05
|
|
|
TRIOBP
|
[NCBI]
|
1.84455e-05
|
|
|
TCAP
|
[NCBI]
|
1.84455e-05
|
|
|
FAT
|
[NCBI]
|
1.84455e-05
|
|
|
ARFGEF2
|
[NCBI]
|
1.84455e-05
|
|
|
MEP1A
|
[NCBI]
|
1.84455e-05
|
|
|
ST5
|
[NCBI]
|
1.84455e-05
|
|
|
SLC12A6
|
[NCBI]
|
1.84455e-05
|
|
|
SETMAR
|
[NCBI]
|
1.84455e-05
|
|
|
RPL12
|
[NCBI]
|
1.84455e-05
|
|
|
neural tube defects, x-linked
|
[NCBI]
|
1.84073e-05
|
|
|
LIS2
|
[NCBI]
|
1.84073e-05
|
|
|
paget disease, juvenile
|
[NCBI]
|
1.84073e-05
|
|
|
OCA1B
|
[NCBI]
|
1.84073e-05
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
1.84073e-05
|
|
|
BDE
|
[NCBI]
|
1.84073e-05
|
|
|
CGL1
|
[NCBI]
|
1.84073e-05
|
|
|
MONA
|
[NCBI]
|
1.84073e-05
|
|
|
elejalde disease
|
[NCBI]
|
1.84073e-05
|
|
|
hyalinosis, infantile systemic
|
[NCBI]
|
1.84073e-05
|
|
|
boomerang dysplasia
|
[NCBI]
|
1.84073e-05
|
|
|
ectodermal dysplasia, hypohidrotic, with immune deficiency
|
[NCBI]
|
1.84073e-05
|
|
|
l-2-hydroxyglutaric aciduria
|
[NCBI]
|
1.84073e-05
|
|
|
patterned dystrophy of retinal pigment epithelium
|
[NCBI]
|
1.84073e-05
|
|
|
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
|
[NCBI]
|
1.84073e-05
|
|
|
peters anomaly
|
[NCBI]
|
1.84073e-05
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
1.84073e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative
|
[NCBI]
|
1.84073e-05
|
|
|
RCDP2
|
[NCBI]
|
1.84073e-05
|
|
|
hairy ears, y-linked
|
[NCBI]
|
1.84073e-05
|
|
|
fumarase deficiency
|
[NCBI]
|
1.84073e-05
|
|
|
tyrosinemia, type iii
|
[NCBI]
|
1.84073e-05
|
|
|
myopathy, centronuclear, autosomal dominant
|
[NCBI]
|
1.84073e-05
|
|
|
CDAN2
|
[NCBI]
|
1.82526e-05
|
|
|
krabbe disease
|
[NCBI]
|
1.82006e-05
|
|
|
PRPH2
|
[NCBI]
|
1.79062e-05
|
|
|
NDP
|
[NCBI]
|
1.79062e-05
|
|
|
PTHR1
|
[NCBI]
|
1.79062e-05
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
1.76175e-05
|
|
|
AR
|
[NCBI]
|
1.73824e-05
|
|
|
HGPS
|
[NCBI]
|
1.73814e-05
|
|
|
MBS
|
[NCBI]
|
1.73803e-05
|
|
|
IGAN1
|
[NCBI]
|
1.73803e-05
|
|
|
IGER
|
[NCBI]
|
1.73646e-05
|
|
|
CDLS1
|
[NCBI]
|
1.73521e-05
|
|
|
sialuria, finnish type
|
[NCBI]
|
1.72464e-05
|
|
|
PPT1
|
[NCBI]
|
1.70644e-05
|
|
|
NR0B1
|
[NCBI]
|
1.70644e-05
|
|
|
C4B
|
[NCBI]
|
1.70644e-05
|
|
|
PDE6A
|
[NCBI]
|
1.6971e-05
|
|
|
ESRRG
|
[NCBI]
|
1.6971e-05
|
|
|
FANCF
|
[NCBI]
|
1.6971e-05
|
|
|
MALL
|
[NCBI]
|
1.6971e-05
|
|
|
SPTBN4
|
[NCBI]
|
1.6971e-05
|
|
|
PMP2
|
[NCBI]
|
1.6971e-05
|
|
|
GCM2
|
[NCBI]
|
1.6971e-05
|
|
|
TGM5
|
[NCBI]
|
1.6971e-05
|
|
|
ETFA
|
[NCBI]
|
1.6971e-05
|
|
|
ABCA12
|
[NCBI]
|
1.6971e-05
|
|
|
COQ2
|
[NCBI]
|
1.6971e-05
|
|
|
PUS1
|
[NCBI]
|
1.6971e-05
|
|
|
EVC
|
[NCBI]
|
1.6971e-05
|
|
|
ABAT
|
[NCBI]
|
1.6971e-05
|
|
|
TTDN1
|
[NCBI]
|
1.6971e-05
|
|
|
TJP2
|
[NCBI]
|
1.6971e-05
|
|
|
FOXE3
|
[NCBI]
|
1.6971e-05
|
|
|
RDH12
|
[NCBI]
|
1.6971e-05
|
|
|
NYX
|
[NCBI]
|
1.6971e-05
|
|
|
SARDH
|
[NCBI]
|
1.6971e-05
|
|
|
OSTM1
|
[NCBI]
|
1.6971e-05
|
|
|
FXYD2
|
[NCBI]
|
1.6971e-05
|
|
|
CATSPER2
|
[NCBI]
|
1.6971e-05
|
|
|
CCT
|
[NCBI]
|
1.6971e-05
|
|
|
CRYGS
|
[NCBI]
|
1.6971e-05
|
|
|
DPAGT1
|
[NCBI]
|
1.6971e-05
|
|
|
SSPN
|
[NCBI]
|
1.6971e-05
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
1.6971e-05
|
|
|
CABP4
|
[NCBI]
|
1.6971e-05
|
|
|
EDARADD
|
[NCBI]
|
1.6971e-05
|
|
|
PIP5K1B
|
[NCBI]
|
1.6971e-05
|
|
|
PLA2G6
|
[NCBI]
|
1.6971e-05
|
|
|
CUL7
|
[NCBI]
|
1.6971e-05
|
|
|
WT1
|
[NCBI]
|
1.69313e-05
|
|
|
CGF
|
[NCBI]
|
1.68241e-05
|
|
|
pulmonary disease, chronic obstructive
|
[NCBI]
|
1.68241e-05
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
1.68241e-05
|
|
|
neutropenia, chronic familial
|
[NCBI]
|
1.68241e-05
|
|
|
ANON1
|
[NCBI]
|
1.68241e-05
|
|
|
MCOPS1
|
[NCBI]
|
1.68241e-05
|
|
|
strabismus, susceptibility to
|
[NCBI]
|
1.68241e-05
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
1.68241e-05
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
1.68241e-05
|
|
|
fucosidosis
|
[NCBI]
|
1.67993e-05
|
|
|
fabry disease
|
[NCBI]
|
1.60971e-05
|
|
|
EKV
|
[NCBI]
|
1.60186e-05
|
|
|
CSNB1A
|
[NCBI]
|
1.60186e-05
|
|
|
MADD
|
[NCBI]
|
1.60186e-05
|
|
|
USH2A
|
[NCBI]
|
1.60186e-05
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
1.60186e-05
|
|
|
ST3GAL5
|
[NCBI]
|
1.58018e-05
|
|
|
ABCB7
|
[NCBI]
|
1.58018e-05
|
|
|
DHCR24
|
[NCBI]
|
1.58018e-05
|
|
|
GNB5
|
[NCBI]
|
1.58018e-05
|
|
|
MYL3
|
[NCBI]
|
1.58018e-05
|
|
|
NPHP3
|
[NCBI]
|
1.58018e-05
|
|
|
NTF5
|
[NCBI]
|
1.58018e-05
|
|
|
AOX1
|
[NCBI]
|
1.58018e-05
|
|
|
GJC2
|
[NCBI]
|
1.58018e-05
|
|
|
SMS
|
[NCBI]
|
1.58018e-05
|
|
|
GRK1
|
[NCBI]
|
1.58018e-05
|
|
|
GRIK2
|
[NCBI]
|
1.58018e-05
|
|
|
MPV17
|
[NCBI]
|
1.58018e-05
|
|
|
HSD17B3
|
[NCBI]
|
1.58018e-05
|
|
|
ADAMTS1
|
[NCBI]
|
1.58018e-05
|
|
|
HAX1
|
[NCBI]
|
1.58018e-05
|
|
|
TBX19
|
[NCBI]
|
1.58018e-05
|
|
|
RFXANK
|
[NCBI]
|
1.58018e-05
|
|
|
SAI1
|
[NCBI]
|
1.58018e-05
|
|
|
RSPO4
|
[NCBI]
|
1.58018e-05
|
|
|
FUCA2
|
[NCBI]
|
1.58018e-05
|
|
|
CRYBB3
|
[NCBI]
|
1.58018e-05
|
|
|
ATP6V1B1
|
[NCBI]
|
1.58018e-05
|
|
|
ALOX12B
|
[NCBI]
|
1.58018e-05
|
|
|
CDC25B
|
[NCBI]
|
1.58018e-05
|
|
|
CBX2
|
[NCBI]
|
1.58018e-05
|
|
|
SEC23A
|
[NCBI]
|
1.58018e-05
|
|
|
AGPAT2
|
[NCBI]
|
1.58018e-05
|
|
|
SBDS
|
[NCBI]
|
1.58018e-05
|
|
|
PHF9
|
[NCBI]
|
1.58018e-05
|
|
|
hypospadias, autosomal
|
[NCBI]
|
1.56904e-05
|
|
|
charcot-marie-tooth disease, dominant intermediate b
|
[NCBI]
|
1.56904e-05
|
|
|
vater association
|
[NCBI]
|
1.56904e-05
|
|
|
HNSCC
|
[NCBI]
|
1.56904e-05
|
|
|
F5F8D
|
[NCBI]
|
1.56904e-05
|
|
|
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
|
[NCBI]
|
1.56904e-05
|
|
|
HHRH
|
[NCBI]
|
1.56904e-05
|
|
|
ichthyosis, bullous type
|
[NCBI]
|
1.56904e-05
|
|
|
pierson syndrome
|
[NCBI]
|
1.56904e-05
|
|
|
FSGS1
|
[NCBI]
|
1.56904e-05
|
|
|
pneumothorax, primary spontaneous
|
[NCBI]
|
1.56904e-05
|
|
|
LGMD2J
|
[NCBI]
|
1.56904e-05
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
1.56904e-05
|
|
|
cardiomyopathy, dilated, with woolly hair and keratoderma
|
[NCBI]
|
1.56904e-05
|
|
|
amme complex
|
[NCBI]
|
1.56904e-05
|
|
|
CPVT
|
[NCBI]
|
1.56904e-05
|
|
|
STL2
|
[NCBI]
|
1.56904e-05
|
|
|
drug metabolism, poor, cyp2c19-related
|
[NCBI]
|
1.56904e-05
|
|
|
floating-harbor syndrome
|
[NCBI]
|
1.56904e-05
|
|
|
ATRX
|
[NCBI]
|
1.53461e-05
|
|
|
VLDLR
|
[NCBI]
|
1.53461e-05
|
|
|
glycogen storage disease v
|
[NCBI]
|
1.48739e-05
|
|
|
RMD
|
[NCBI]
|
1.48739e-05
|
|
|
glycogen storage disease ib
|
[NCBI]
|
1.48739e-05
|
|
|
CLCN3
|
[NCBI]
|
1.48343e-05
|
|
|
PMX1
|
[NCBI]
|
1.48343e-05
|
|
|
NPR3
|
[NCBI]
|
1.48343e-05
|
|
|
CRYBA4
|
[NCBI]
|
1.48343e-05
|
|
|
CTNNA2
|
[NCBI]
|
1.48343e-05
|
|
|
PLCE1
|
[NCBI]
|
1.48343e-05
|
|
|
HLA-F
|
[NCBI]
|
1.48343e-05
|
|
|
UCHL3
|
[NCBI]
|
1.48343e-05
|
|
|
SYNE1
|
[NCBI]
|
1.48343e-05
|
|
|
CPN1
|
[NCBI]
|
1.48343e-05
|
|
|
ESPN
|
[NCBI]
|
1.48343e-05
|
|
|
P2RY14
|
[NCBI]
|
1.48343e-05
|
|
|
CNGA1
|
[NCBI]
|
1.48343e-05
|
|
|
FBLN5
|
[NCBI]
|
1.48343e-05
|
|
|
HSF4
|
[NCBI]
|
1.48343e-05
|
|
|
PRSS12
|
[NCBI]
|
1.48343e-05
|
|
|
SEMA4A
|
[NCBI]
|
1.48343e-05
|
|
|
FANCB
|
[NCBI]
|
1.48343e-05
|
|
|
ST14
|
[NCBI]
|
1.48343e-05
|
|
|
HMGCS2
|
[NCBI]
|
1.48343e-05
|
|
|
IL1R1
|
[NCBI]
|
1.48343e-05
|
|
|
UNC5C
|
[NCBI]
|
1.48343e-05
|
|
|
NPHP4
|
[NCBI]
|
1.48343e-05
|
|
|
HPRT1
|
[NCBI]
|
1.47726e-05
|
|
|
EIG
|
[NCBI]
|
1.47404e-05
|
|
|
HCRT
|
[NCBI]
|
1.46959e-05
|
|
|
NTRK1
|
[NCBI]
|
1.46959e-05
|
|
|
WAS
|
[NCBI]
|
1.46959e-05
|
|
|
hypogonadotropic hypogonadism
|
[NCBI]
|
1.41518e-05
|
|
|
LAMB2
|
[NCBI]
|
1.40102e-05
|
|
|
LPIN2
|
[NCBI]
|
1.40102e-05
|
|
|
ANGPTL3
|
[NCBI]
|
1.40102e-05
|
|
|
DNASE2
|
[NCBI]
|
1.40102e-05
|
|
|
ROM1
|
[NCBI]
|
1.40102e-05
|
|
|
CRYBB1
|
[NCBI]
|
1.40102e-05
|
|
|
NT5C3
|
[NCBI]
|
1.40102e-05
|
|
|
SLC25A13
|
[NCBI]
|
1.40102e-05
|
|
|
CNGA3
|
[NCBI]
|
1.40102e-05
|
|
|
AGT
|
[NCBI]
|
1.38949e-05
|
|
|
FXN
|
[NCBI]
|
1.38949e-05
|
|
|
FLNA
|
[NCBI]
|
1.38949e-05
|
|
|
SEDC
|
[NCBI]
|
1.38052e-05
|
|
|
OCRL
|
[NCBI]
|
1.38052e-05
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
1.38052e-05
|
|
|
gaucher disease, type iii
|
[NCBI]
|
1.38052e-05
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
1.34562e-05
|
|
|
PARK7
|
[NCBI]
|
1.34562e-05
|
|
|
HPS2
|
[NCBI]
|
1.34562e-05
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
1.34562e-05
|
|
|
deafness, aminoglycoside-induced
|
[NCBI]
|
1.34562e-05
|
|
|
kuru, susceptibility to
|
[NCBI]
|
1.34562e-05
|
|
|
MCOPS2
|
[NCBI]
|
1.34562e-05
|
|
|
ACHM3
|
[NCBI]
|
1.34562e-05
|
|
|
GS1
|
[NCBI]
|
1.34562e-05
|
|
|
AITD3
|
[NCBI]
|
1.34562e-05
|
|
|
citrullinemia, type ii, neonatal-onset
|
[NCBI]
|
1.34562e-05
|
|
|
IBM3
|
[NCBI]
|
1.34562e-05
|
|
|
colorectal adenomatous polyposis, autosomal recessive
|
[NCBI]
|
1.34562e-05
|
|
|
AIH2
|
[NCBI]
|
1.34562e-05
|
|
|
ear wax, wet/dry
|
[NCBI]
|
1.34562e-05
|
|
|
MDC1C
|
[NCBI]
|
1.34562e-05
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
1.34562e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3
|
[NCBI]
|
1.34562e-05
|
|
|
creatine deficiency syndrome, x-linked
|
[NCBI]
|
1.34562e-05
|
|
|
ehlers-danlos syndrome, type vii, autosomal recessive
|
[NCBI]
|
1.34562e-05
|
|
|
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
|
[NCBI]
|
1.34562e-05
|
|
|
LBR
|
[NCBI]
|
1.33376e-05
|
|
|
SLC2A8
|
[NCBI]
|
1.32933e-05
|
|
|
CHX10
|
[NCBI]
|
1.32933e-05
|
|
|
NRG2
|
[NCBI]
|
1.32933e-05
|
|
|
BCKDHB
|
[NCBI]
|
1.32933e-05
|
|
|
ARSE
|
[NCBI]
|
1.32933e-05
|
|
|
FHL1
|
[NCBI]
|
1.32933e-05
|
|
|
BSCL2
|
[NCBI]
|
1.32933e-05
|
|
|
ABCG8
|
[NCBI]
|
1.32933e-05
|
|
|
LAMC2
|
[NCBI]
|
1.32933e-05
|
|
|
ANTXR2
|
[NCBI]
|
1.32933e-05
|
|
|
DR1
|
[NCBI]
|
1.32933e-05
|
|
|