|
OMIM |
Link |
Information gain |
01 |
|
RA
|
[NCBI]
|
0.00367664
|
|
|
cholestasis-lymphedema syndrome
|
[NCBI]
|
0.00246215
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.00246215
|
|
|
SLE
|
[NCBI]
|
0.00198899
|
|
|
cataract, congenital or juvenile
|
[NCBI]
|
0.0018457
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.0018457
|
|
|
OFD4
|
[NCBI]
|
0.00174705
|
|
|
omodysplasia, generalized form
|
[NCBI]
|
0.00157092
|
|
|
DBQD
|
[NCBI]
|
0.00157092
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.00142316
|
|
|
opsismodysplasia
|
[NCBI]
|
0.00142316
|
|
|
CMT2B2
|
[NCBI]
|
0.00142316
|
|
|
CORD8
|
[NCBI]
|
0.00142316
|
|
|
CF
|
[NCBI]
|
0.00132154
|
|
|
HDL3
|
[NCBI]
|
0.00122986
|
|
|
MRT12
|
[NCBI]
|
0.00122986
|
|
|
cataract, autosomal recessive congenital 2
|
[NCBI]
|
0.00122986
|
|
|
SHFLD1
|
[NCBI]
|
0.00122123
|
|
|
AMCN
|
[NCBI]
|
0.00122123
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.00122123
|
|
|
CTAA1
|
[NCBI]
|
0.00121751
|
|
|
gapo syndrome
|
[NCBI]
|
0.00121751
|
|
|
letterer-siwe disease
|
[NCBI]
|
0.00121751
|
|
|
CCA1
|
[NCBI]
|
0.00107344
|
|
|
anencephaly
|
[NCBI]
|
0.00106306
|
|
|
SPG5A
|
[NCBI]
|
0.000962343
|
|
|
diaphragmatic hernia, congenital
|
[NCBI]
|
0.000955231
|
|
|
cataract, central saccular, with sutural opacities
|
[NCBI]
|
0.000872358
|
|
|
frontofacionasal dysostosis
|
[NCBI]
|
0.000872358
|
|
|
MHAC
|
[NCBI]
|
0.000872358
|
|
|
cataract, autosomal recessive, early-onset, pulverulent
|
[NCBI]
|
0.000872358
|
|
|
alopecia-mental retardation syndrome 1
|
[NCBI]
|
0.000872358
|
|
|
klippel-feil syndrome, autosomal recessive
|
[NCBI]
|
0.000872358
|
|
|
macrocephaly with multiple epiphyseal dysplasia and distinctive facies
|
[NCBI]
|
0.000872358
|
|
|
pyloric atresia
|
[NCBI]
|
0.000872358
|
|
|
SCAR6
|
[NCBI]
|
0.000872358
|
|
|
GO
|
[NCBI]
|
0.000872163
|
|
|
AOS
|
[NCBI]
|
0.000840982
|
|
|
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
|
[NCBI]
|
0.000715069
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.000715069
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.000715069
|
|
|
CTAA2
|
[NCBI]
|
0.000715069
|
|
|
VDEGS
|
[NCBI]
|
0.000715069
|
|
|
SCAR2
|
[NCBI]
|
0.000715069
|
|
|
muscular dystrophy, congenital, merosin-positive
|
[NCBI]
|
0.000715069
|
|
|
NLS
|
[NCBI]
|
0.000708084
|
|
|
DYT2
|
[NCBI]
|
0.000624917
|
|
|
MRT5
|
[NCBI]
|
0.000614626
|
|
|
DFNB55
|
[NCBI]
|
0.000614626
|
|
|
RP22
|
[NCBI]
|
0.000614626
|
|
|
MRT10
|
[NCBI]
|
0.000614626
|
|
|
EIG3
|
[NCBI]
|
0.000614626
|
|
|
cataract, nuclear progressive
|
[NCBI]
|
0.000614626
|
|
|
DFNB35
|
[NCBI]
|
0.000614626
|
|
|
DFNB63
|
[NCBI]
|
0.000614626
|
|
|
SCKL2
|
[NCBI]
|
0.000614626
|
|
|
MRT4
|
[NCBI]
|
0.000614626
|
|
|
chudley-mccullough syndrome
|
[NCBI]
|
0.000614626
|
|
|
hyperphosphatasia with mental retardation
|
[NCBI]
|
0.000614626
|
|
|
SPG32
|
[NCBI]
|
0.000614626
|
|
|
MRT8
|
[NCBI]
|
0.000614626
|
|
|
foveal hypoplasia and anterior segment dysgenesis
|
[NCBI]
|
0.000614626
|
|
|
microcephaly-micromelia syndrome
|
[NCBI]
|
0.000614626
|
|
|
cardiomyopathy associated with myopathy and sudden death
|
[NCBI]
|
0.000614626
|
|
|
DFNB27
|
[NCBI]
|
0.000614626
|
|
|
ciliary dyskinesia, primary, 4
|
[NCBI]
|
0.000614626
|
|
|
SPG30
|
[NCBI]
|
0.000614626
|
|
|
SPAX2
|
[NCBI]
|
0.000614626
|
|
|
enteropathy, protein-losing
|
[NCBI]
|
0.000614626
|
|
|
LAH3
|
[NCBI]
|
0.000614626
|
|
|
onychotrichodysplasia and neutropenia
|
[NCBI]
|
0.000614626
|
|
|
DFNM1
|
[NCBI]
|
0.000614626
|
|
|
MRT11
|
[NCBI]
|
0.000614626
|
|
|
muscular dystrophy, congenital, 1b
|
[NCBI]
|
0.000614626
|
|
|
CATCN1
|
[NCBI]
|
0.000614626
|
|
|
alopecia-mental retardation syndrome 2
|
[NCBI]
|
0.000614626
|
|
|
erythroderma, lethal congenital
|
[NCBI]
|
0.000614626
|
|
|
behr syndrome
|
[NCBI]
|
0.000614626
|
|
|
deafness, congenital, with vitiligo and achalasia
|
[NCBI]
|
0.000614626
|
|
|
MRT9
|
[NCBI]
|
0.000614626
|
|
|
short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting
|
[NCBI]
|
0.000614626
|
|
|
leg, absence deformity of, with congenital cataract
|
[NCBI]
|
0.000614626
|
|
|
aneurysm, intracranial berry, 5
|
[NCBI]
|
0.000614626
|
|
|
DFNB26
|
[NCBI]
|
0.000614626
|
|
|
SCKL3
|
[NCBI]
|
0.000614626
|
|
|
ciliary dyskinesia, primary, 5
|
[NCBI]
|
0.000614626
|
|
|
MRT7
|
[NCBI]
|
0.000614626
|
|
|
amyotrophic lateral sclerosis, juvenile, with dementia
|
[NCBI]
|
0.000614626
|
|
|
xanthomatosis, susceptibility to
|
[NCBI]
|
0.000614626
|
|
|
woolly hair, autosomal dominant
|
[NCBI]
|
0.000614626
|
|
|
DFNB68
|
[NCBI]
|
0.000614626
|
|
|
DFNB62
|
[NCBI]
|
0.000614626
|
|
|
corneal erosions, recurring hereditary
|
[NCBI]
|
0.000614626
|
|
|
deafness, congenital neurosensory, autosomal recessive 38
|
[NCBI]
|
0.000614626
|
|
|
polycystic kidney disease, potter type i, with microbrachycephaly, hypertelorism, and brachymelia
|
[NCBI]
|
0.000614626
|
|
|
CTPP1
|
[NCBI]
|
0.000609545
|
|
|
SPG23
|
[NCBI]
|
0.000609545
|
|
|
hennekam lymphangiectasia-lymphedema syndrome
|
[NCBI]
|
0.000609545
|
|
|
ehlers-danlos syndrome, type vib
|
[NCBI]
|
0.000609545
|
|
|
AD
|
[NCBI]
|
0.000606074
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000530509
|
|
|
RNANC
|
[NCBI]
|
0.000530509
|
|
|
folic acid, transport defect involving
|
[NCBI]
|
0.000530509
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.000530509
|
|
|
visceral myopathy, familial, with external ophthalmoplegia
|
[NCBI]
|
0.000530509
|
|
|
BBS
|
[NCBI]
|
0.000486852
|
|
|
FRNS
|
[NCBI]
|
0.000474325
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.000467779
|
|
|
gonadal dysgenesis, xx type, with deafness
|
[NCBI]
|
0.000467779
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
0.000372574
|
|
|
deafness, conductive, with malformed external ear
|
[NCBI]
|
0.000357256
|
|
|
aplasia cutis congenita of limbs, recessive
|
[NCBI]
|
0.000357256
|
|
|
saccharopinuria
|
[NCBI]
|
0.000357256
|
|
|
kala-azar, susceptibility to, 3
|
[NCBI]
|
0.000357256
|
|
|
hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
|
[NCBI]
|
0.000357256
|
|
|
cerebrofaciothoracic dysplasia
|
[NCBI]
|
0.000357256
|
|
|
SCAR5
|
[NCBI]
|
0.000357256
|
|
|
myasthenia, familial infantile, 1
|
[NCBI]
|
0.000357256
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.000357256
|
|
|
osteodysplasia, familial, anderson type
|
[NCBI]
|
0.000357256
|
|
|
friedreich ataxia 2
|
[NCBI]
|
0.000357256
|
|
|
STUT2
|
[NCBI]
|
0.000357256
|
|
|
HHG
|
[NCBI]
|
0.000357256
|
|
|
oslam syndrome
|
[NCBI]
|
0.000357256
|
|
|
dysosteosclerosis
|
[NCBI]
|
0.000357256
|
|
|
RDPA
|
[NCBI]
|
0.000357256
|
|
|
SPG14
|
[NCBI]
|
0.000357256
|
|
|
humeroradial synostosis
|
[NCBI]
|
0.000357256
|
|
|
SCAR3
|
[NCBI]
|
0.000357256
|
|
|
kala-azar, susceptibility to, 2
|
[NCBI]
|
0.000357256
|
|
|
fibromatosis, gingival, with progressive deafness
|
[NCBI]
|
0.000357256
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal recessive
|
[NCBI]
|
0.000357256
|
|
|
spastic diplegia, infantile type
|
[NCBI]
|
0.000357256
|
|
|
femur, unilateral bifid, with monodactylous ectrodactyly
|
[NCBI]
|
0.000357256
|
|
|
hemophagocytic lymphohistiocytosis, familial, 1
|
[NCBI]
|
0.000356213
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
0.000350053
|
|
|
MKS1
|
[NCBI]
|
0.000346734
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000339686
|
|
|
PCA
|
[NCBI]
|
0.000335125
|
|
|
ACLS
|
[NCBI]
|
0.000320283
|
|
|
AAA
|
[NCBI]
|
0.000311725
|
|
|
VLDLRCH
|
[NCBI]
|
0.000282148
|
|
|
DMC
|
[NCBI]
|
0.000282148
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.000273743
|
|
|
spondylometaphyseal dysplasia, sedaghatian type
|
[NCBI]
|
0.000265
|
|
|
persistent hyperplastic primary vitreous, autosomal recessive
|
[NCBI]
|
0.000265
|
|
|
pyle disease
|
[NCBI]
|
0.000265
|
|
|
cerebellar hypoplasia, mental retardation, and quadrupedal locomotion
|
[NCBI]
|
0.000265
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.000265
|
|
|
ALS3
|
[NCBI]
|
0.000265
|
|
|
thyroid hormonogenesis, genetic defect in, 4
|
[NCBI]
|
0.000265
|
|
|
cerebellar atrophy with progressive microcephaly
|
[NCBI]
|
0.000265
|
|
|
LI5
|
[NCBI]
|
0.000265
|
|
|
omodysplasia
|
[NCBI]
|
0.000265
|
|
|
faciodigitogenital syndrome, recessive
|
[NCBI]
|
0.000265
|
|
|
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers
|
[NCBI]
|
0.000265
|
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.000265
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.000265
|
|
|
DFNB5
|
[NCBI]
|
0.000265
|
|
|
SPG15
|
[NCBI]
|
0.000265
|
|
|
dianzani autoimmune lymphoproliferative disease
|
[NCBI]
|
0.000265
|
|
|
alzheimer disease 11
|
[NCBI]
|
0.000265
|
|
|
bruck syndrome 1
|
[NCBI]
|
0.000265
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.000265
|
|
|
spondylometaphyseal dysplasia, kozlowski type
|
[NCBI]
|
0.000265
|
|
|
GHDD
|
[NCBI]
|
0.000265
|
|
|
preauricular fistulae, congenital
|
[NCBI]
|
0.000265
|
|
|
MG
|
[NCBI]
|
0.000248493
|
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
|
[NCBI]
|
0.000248199
|
|
|
MRT1
|
[NCBI]
|
0.000247841
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
0.000247841
|
|
|
LGMD2C
|
[NCBI]
|
0.000243304
|
|
|
MRT3
|
[NCBI]
|
0.000242709
|
|
|
fundus dystrophy, pseudoinflammatory, recessive form
|
[NCBI]
|
0.000242709
|
|
|
GLC3A
|
[NCBI]
|
0.000239177
|
|
|
anonychia congenita
|
[NCBI]
|
0.000228938
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
0.000223134
|
|
|
MAFD1
|
[NCBI]
|
0.00022052
|
|
|
PALS
|
[NCBI]
|
0.000216862
|
|
|
HRD
|
[NCBI]
|
0.000213971
|
|
|
deafness, autosomal recessive
|
[NCBI]
|
0.000213971
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
0.000210181
|
|
|
CNA1
|
[NCBI]
|
0.000207842
|
|
|
DYT6
|
[NCBI]
|
0.000207842
|
|
|
ALS5
|
[NCBI]
|
0.000207842
|
|
|
prognathism, mandibular
|
[NCBI]
|
0.000207842
|
|
|
BWCNS
|
[NCBI]
|
0.000207842
|
|
|
campomelia, cumming type
|
[NCBI]
|
0.000207842
|
|
|
peeling skin syndrome
|
[NCBI]
|
0.000207842
|
|
|
oligosynaptic infertility
|
[NCBI]
|
0.000207842
|
|
|
AXPC1
|
[NCBI]
|
0.000207842
|
|
|
carnosinemia
|
[NCBI]
|
0.000207842
|
|
|
CORD5
|
[NCBI]
|
0.000207842
|
|
|
cenani syndactylism
|
[NCBI]
|
0.000207842
|
|
|
laryngeal abductor paralysis
|
[NCBI]
|
0.000207842
|
|
|
DSMA3
|
[NCBI]
|
0.000207842
|
|
|
EVC
|
[NCBI]
|
0.00020648
|
|
|
DFNB1
|
[NCBI]
|
0.00020648
|
|
|
MKKS
|
[NCBI]
|
0.00020253
|
|
|
BOCD
|
[NCBI]
|
0.000201555
|
|
|
duodenal atresia
|
[NCBI]
|
0.000198001
|
|
|
MCPH5
|
[NCBI]
|
0.000190942
|
|
|
APC
|
[NCBI]
|
0.000182224
|
|
|
OSMED
|
[NCBI]
|
0.000181678
|
|
|
SLSN1
|
[NCBI]
|
0.000181678
|
|
|
LGMD2A
|
[NCBI]
|
0.000181674
|
|
|
FRDA
|
[NCBI]
|
0.000181649
|
|
|
CCZS
|
[NCBI]
|
0.000176004
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
0.000176004
|
|
|
DFNB6
|
[NCBI]
|
0.000176004
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive
|
[NCBI]
|
0.000176004
|
|
|
SACS
|
[NCBI]
|
0.000173461
|
|
|
acheiropody
|
[NCBI]
|
0.000173461
|
|
|
pycnodysostosis
|
[NCBI]
|
0.000173461
|
|
|
COH1
|
[NCBI]
|
0.000168005
|
|
|
CMDR
|
[NCBI]
|
0.000167353
|
|
|
cerebral palsy, ataxic, autosomal recessive
|
[NCBI]
|
0.000167353
|
|
|
hypertelorism, teebi type
|
[NCBI]
|
0.000167353
|
|
|
splenic hypoplasia
|
[NCBI]
|
0.000167353
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.000167353
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000167353
|
|
|
chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000167353
|
|
|
CORD7
|
[NCBI]
|
0.000167353
|
|
|
acromegaloid facial appearance syndrome
|
[NCBI]
|
0.000167353
|
|
|
ARH
|
[NCBI]
|
0.000166084
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
0.000166084
|
|
|
WFS2
|
[NCBI]
|
0.000161791
|
|
|
spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia
|
[NCBI]
|
0.000161791
|
|
|
acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
|
[NCBI]
|
0.000161791
|
|
|
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
|
[NCBI]
|
0.000161791
|
|
|
atpaf2 deficiency
|
[NCBI]
|
0.000161791
|
|
|
spondyloocular syndrome, autosomal recessive
|
[NCBI]
|
0.000161791
|
|
|
retinopathy, pigmentary, and mental retardation
|
[NCBI]
|
0.000161791
|
|
|
MRT6
|
[NCBI]
|
0.000161791
|
|
|
abcd syndrome
|
[NCBI]
|
0.000161791
|
|
|
methylmalonyl-coa epimerase deficiency
|
[NCBI]
|
0.000161791
|
|
|
cardiogenital syndrome
|
[NCBI]
|
0.000161791
|
|
|
enterocolitis
|
[NCBI]
|
0.000161791
|
|
|
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
|
[NCBI]
|
0.000161791
|
|
|
dextrocardia with unusual facies and microphthalmia
|
[NCBI]
|
0.000161791
|
|
|
arthrogryposis, renal dysfunction, and cholestasis
|
[NCBI]
|
0.000160456
|
|
|
DFNB7
|
[NCBI]
|
0.000160456
|
|
|
charcot-marie-tooth disease, axonal, type 2b1
|
[NCBI]
|
0.000160456
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
0.000160456
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
0.00015893
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
0.000155611
|
|
|
ATD1
|
[NCBI]
|
0.000153883
|
|
|
BLM
|
[NCBI]
|
0.000153812
|
|
|
MCPH1
|
[NCBI]
|
0.00015328
|
|
|
OPTB1
|
[NCBI]
|
0.000153215
|
|
|
CCA2
|
[NCBI]
|
0.00014836
|
|
|
hypospadias, autosomal
|
[NCBI]
|
0.00014836
|
|
|
pierson syndrome
|
[NCBI]
|
0.00014836
|
|
|
GJB2
|
[NCBI]
|
0.000147806
|
|
|
seckel syndrome 1
|
[NCBI]
|
0.000147653
|
|
|
ehlers-danlos syndrome, type vi
|
[NCBI]
|
0.000147653
|
|
|
OPTB3
|
[NCBI]
|
0.000142444
|
|
|
pituitary dwarfism iii
|
[NCBI]
|
0.000142444
|
|
|
NPHP2
|
[NCBI]
|
0.000138456
|
|
|
AOI
|
[NCBI]
|
0.000138456
|
|
|
AMDM
|
[NCBI]
|
0.000138456
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
0.000136682
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.000136682
|
|
|
MKS2
|
[NCBI]
|
0.000136682
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
0.000136682
|
|
|
microcephaly, hiatus hernia, and nephrotic syndrome
|
[NCBI]
|
0.000136682
|
|
|
microtia-anotia
|
[NCBI]
|
0.000136682
|
|
|
CDAN3
|
[NCBI]
|
0.000136682
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.000136682
|
|
|
EOCA
|
[NCBI]
|
0.000136682
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000136682
|
|
|
UFS
|
[NCBI]
|
0.000136682
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.000136682
|
|
|
fructose-1,6-bisphosphatase deficiency
|
[NCBI]
|
0.000130074
|
|
|
GGM
|
[NCBI]
|
0.000130074
|
|
|
CLPED1
|
[NCBI]
|
0.000130074
|
|
|
CMT4B2
|
[NCBI]
|
0.000130074
|
|
|
PDP
|
[NCBI]
|
0.000130074
|
|
|
STRC
|
[NCBI]
|
0.00012897
|
|
|
MSS
|
[NCBI]
|
0.000128827
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.000128022
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.00012696
|
|
|
APL
|
[NCBI]
|
0.000124833
|
|
|
OODD
|
[NCBI]
|
0.00012389
|
|
|
fibular hypoplasia and complex brachydactyly
|
[NCBI]
|
0.00012389
|
|
|
rhizomelic syndrome
|
[NCBI]
|
0.00012389
|
|
|
keutel syndrome
|
[NCBI]
|
0.00012389
|
|
|
limb defects, distal transverse, with mental retardation and spasticity
|
[NCBI]
|
0.00012389
|
|
|
ectrodactyly
|
[NCBI]
|
0.00012389
|
|
|
majeed syndrome
|
[NCBI]
|
0.00012389
|
|
|
irak4 deficiency
|
[NCBI]
|
0.00012389
|
|
|
SMC
|
[NCBI]
|
0.00012389
|
|
|
retinohepatoendocrinologic syndrome
|
[NCBI]
|
0.00012389
|
|
|
deafness, sensorineural, and male infertility
|
[NCBI]
|
0.00012389
|
|
|
tetra-amelia, x-linked
|
[NCBI]
|
0.00012389
|
|
|
al-gazali syndrome
|
[NCBI]
|
0.00012389
|
|
|
SCN3
|
[NCBI]
|
0.000122817
|
|
|
hyperostosis corticalis generalisata
|
[NCBI]
|
0.000122817
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
0.000122817
|
|
|
renal tubular acidosis, distal, with progressive nerve deafness
|
[NCBI]
|
0.000122817
|
|
|
situs inversus viscerum
|
[NCBI]
|
0.000122817
|
|
|
kindler syndrome
|
[NCBI]
|
0.000122817
|
|
|
megaloblastic anemia 1
|
[NCBI]
|
0.000121064
|
|
|
OTOF
|
[NCBI]
|
0.000120861
|
|
|
WSS
|
[NCBI]
|
0.000116424
|
|
|
SCAR1
|
[NCBI]
|
0.000116424
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
0.0001125
|
|
|
acrodysostosis
|
[NCBI]
|
0.0001125
|
|
|
achalasia, familial esophageal
|
[NCBI]
|
0.0001125
|
|
|
PHP
|
[NCBI]
|
0.0001125
|
|
|
diarrhea 2, with microvillous atrophy
|
[NCBI]
|
0.0001125
|
|
|
ocular motor apraxia
|
[NCBI]
|
0.0001125
|
|
|
acetabular dysplasia
|
[NCBI]
|
0.0001125
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.0001125
|
|
|
MCOP1
|
[NCBI]
|
0.0001125
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
0.000110719
|
|
|
ALUNC
|
[NCBI]
|
0.000110719
|
|
|
CMT4A
|
[NCBI]
|
0.000110719
|
|
|
LGMD2H
|
[NCBI]
|
0.000110719
|
|
|
laurence-moon syndrome
|
[NCBI]
|
0.000106955
|
|
|
robin sequence with cleft mandible and limb anomalies
|
[NCBI]
|
0.000106955
|
|
|
LAH
|
[NCBI]
|
0.000106955
|
|
|
HHF4
|
[NCBI]
|
0.000106955
|
|
|
OPTB2
|
[NCBI]
|
0.000106955
|
|
|
MLASA
|
[NCBI]
|
0.000106955
|
|
|
nevo syndrome
|
[NCBI]
|
0.000106955
|
|
|
cardiomyopathy, dilated, autosomal recessive
|
[NCBI]
|
0.000106955
|
|
|
malonyl-coa decarboxylase deficiency
|
[NCBI]
|
0.000106955
|
|
|
MRT2
|
[NCBI]
|
0.000106955
|
|
|
LCA5
|
[NCBI]
|
0.000106955
|
|
|
MCOP2
|
[NCBI]
|
0.000106955
|
|
|
LI3
|
[NCBI]
|
0.000106955
|
|
|
DFNB59
|
[NCBI]
|
0.000106955
|
|
|
CDH23
|
[NCBI]
|
0.000105681
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
0.000105627
|
|
|
PPSH
|
[NCBI]
|
0.000102118
|
|
|
LGMD2I
|
[NCBI]
|
0.000100891
|
|
|
COFS1
|
[NCBI]
|
0.000100891
|
|
|
anemia, dyserythropoietic congenital, type i
|
[NCBI]
|
0.000100891
|
|
|
KCNQ1
|
[NCBI]
|
9.93344e-05
|
|
|
CTHM
|
[NCBI]
|
9.66003e-05
|
|
|
GAN1
|
[NCBI]
|
9.66003e-05
|
|
|
hyperprolinemia, type ii
|
[NCBI]
|
9.54417e-05
|
|
|
TTDN1
|
[NCBI]
|
9.54417e-05
|
|
|
aromatic l-amino acid decarboxylase deficiency
|
[NCBI]
|
9.54417e-05
|
|
|
PFIC2
|
[NCBI]
|
9.54417e-05
|
|
|
peters-plus syndrome
|
[NCBI]
|
9.54417e-05
|
|
|
GCS1
|
[NCBI]
|
9.54417e-05
|
|
|
DFNB12
|
[NCBI]
|
9.54417e-05
|
|
|
RTADR
|
[NCBI]
|
9.54417e-05
|
|
|
premature chromosome condensation with microcephaly and mental retardation
|
[NCBI]
|
9.54417e-05
|
|
|
mucopolysaccharidosis type iiid
|
[NCBI]
|
9.54417e-05
|
|
|
ramon syndrome
|
[NCBI]
|
9.54417e-05
|
|
|
CTPP3
|
[NCBI]
|
9.54417e-05
|
|
|
WARBM
|
[NCBI]
|
9.54417e-05
|
|
|
mitochondrial complex ii deficiency
|
[NCBI]
|
9.54417e-05
|
|
|
CD
|
[NCBI]
|
9.2982e-05
|
|
|
microtia with meatal atresia and conductive deafness
|
[NCBI]
|
9.29297e-05
|
|
|
CTS1
|
[NCBI]
|
9.29297e-05
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
9.29297e-05
|
|
|
alzheimer disease 5
|
[NCBI]
|
9.29297e-05
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
9.29297e-05
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
9.29297e-05
|
|
|
PPAC
|
[NCBI]
|
9.26447e-05
|
|
|
TS
|
[NCBI]
|
8.93645e-05
|
|
|
alkaptonuria
|
[NCBI]
|
8.89789e-05
|
|
|
NPHS1
|
[NCBI]
|
8.89789e-05
|
|
|
hydatidiform mole
|
[NCBI]
|
8.89789e-05
|
|
|
CIPA
|
[NCBI]
|
8.89789e-05
|
|
|
LAMA2
|
[NCBI]
|
8.88429e-05
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
8.75859e-05
|
|
|
bartter syndrome, infantile, with sensorineural deafness
|
[NCBI]
|
8.67017e-05
|
|
|
l-2-hydroxyglutaric aciduria
|
[NCBI]
|
8.67017e-05
|
|
|
OCA1B
|
[NCBI]
|
8.67017e-05
|
|
|
DFNB8
|
[NCBI]
|
8.67017e-05
|
|
|
cataract, lamellar
|
[NCBI]
|
8.67017e-05
|
|
|
corticosterone methyloxidase type i deficiency
|
[NCBI]
|
8.67017e-05
|
|
|
MONA
|
[NCBI]
|
8.67017e-05
|
|
|
azoospermia due to perturbations of meiosis
|
[NCBI]
|
8.67017e-05
|
|
|
EAOH
|
[NCBI]
|
8.55661e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
8.54725e-05
|
|
|
NPHP1
|
[NCBI]
|
8.23763e-05
|
|
|
F13A1
|
[NCBI]
|
8.14063e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
8.10203e-05
|
|
|
ectodermal dysplasia, hidrotic, autosomal recessive
|
[NCBI]
|
8.08876e-05
|
|
|
anhidrosis
|
[NCBI]
|
8.08876e-05
|
|
|
anonychia, total, with microcephaly
|
[NCBI]
|
8.08876e-05
|
|
|
osteopenia and sparse hair
|
[NCBI]
|
8.08876e-05
|
|
|
lethal short-limb skeletal dysplasia, al gazali type
|
[NCBI]
|
8.08876e-05
|
|
|
polyneuropathy, mixed, of early onset
|
[NCBI]
|
8.08876e-05
|
|
|
sugarman brachydactyly
|
[NCBI]
|
8.08876e-05
|
|
|
alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity
|
[NCBI]
|
8.08876e-05
|
|
|
immunoerythromyeloid hypoplasia
|
[NCBI]
|
8.08876e-05
|
|
|
gangliosidosis, gm2, juvenile, a(m)b variant
|
[NCBI]
|
8.08876e-05
|
|
|
facial dysmorphism with multiple malformations
|
[NCBI]
|
8.08876e-05
|
|
|
SSOS
|
[NCBI]
|
8.08876e-05
|
|
|
spondyloepimetaphyseal dysplasia with abnormal dentition
|
[NCBI]
|
8.08876e-05
|
|
|
spastic paresis, glaucoma, and mental retardation
|
[NCBI]
|
8.08876e-05
|
|
|
ulnar agenesis and endocardial fibroelastosis
|
[NCBI]
|
8.08876e-05
|
|
|
hirschsprung disease with polydactyly, renal agenesis, and deafness
|
[NCBI]
|
8.08876e-05
|
|
|
midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
|
[NCBI]
|
8.08876e-05
|
|
|
EPM3
|
[NCBI]
|
8.08876e-05
|
|
|
hypertelorism and tetralogy of fallot
|
[NCBI]
|
8.08876e-05
|
|
|
cortical blindness, retardation, and postaxial polydactyly
|
[NCBI]
|
8.08876e-05
|
|
|
spastic paraplegia and evans syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
humeroradial synostosis
|
[NCBI]
|
8.08876e-05
|
|
|
myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders
|
[NCBI]
|
8.08876e-05
|
|
|
oculocerebral hypopigmentation syndrome of preus
|
[NCBI]
|
8.08876e-05
|
|
|
micromelic dysplasia, congenital, with dislocation of radius
|
[NCBI]
|
8.08876e-05
|
|
|
fibrosclerosis, multifocal
|
[NCBI]
|
8.08876e-05
|
|
|
thoracomelic dysplasia
|
[NCBI]
|
8.08876e-05
|
|
|
microcephaly, corpus callosum dysgenesis, and cleft lip/palate
|
[NCBI]
|
8.08876e-05
|
|
|
combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia
|
[NCBI]
|
8.08876e-05
|
|
|
oculomaxillofacial dysplasia with oblique facial clefts
|
[NCBI]
|
8.08876e-05
|
|
|
odontomicronychial dysplasia
|
[NCBI]
|
8.08876e-05
|
|
|
hypertaurinuric cardiomyopathy
|
[NCBI]
|
8.08876e-05
|
|
|
ataxia-microcephaly-cataract syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
|
[NCBI]
|
8.08876e-05
|
|
|
ichthyosis with alopecia, eclabion, ectropion, and mental retardation
|
[NCBI]
|
8.08876e-05
|
|
|
aprosencephaly and cerebellar dysgenesis
|
[NCBI]
|
8.08876e-05
|
|
|
CDG2B
|
[NCBI]
|
8.08876e-05
|
|
|
muscular hypoplasia, congenital universal, of krabbe
|
[NCBI]
|
8.08876e-05
|
|
|
dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation
|
[NCBI]
|
8.08876e-05
|
|
|
cardioskeletal syndrome, kuwaiti type
|
[NCBI]
|
8.08876e-05
|
|
|
spondyloepiphyseal dysplasia tarda with characteristic facies
|
[NCBI]
|
8.08876e-05
|
|
|
teeth, noneruption of, with maxillary hypoplasia and genu valgum
|
[NCBI]
|
8.08876e-05
|
|
|
hypogonadism-cataract syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
oral and digital anomalies with ichthyosis
|
[NCBI]
|
8.08876e-05
|
|
|
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
|
[NCBI]
|
8.08876e-05
|
|
|
beemer lethal malformation syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction
|
[NCBI]
|
8.08876e-05
|
|
|
teebi-shaltout syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
homozygous 11p15-p14 deletion syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
macrosomia with microphthalmia, lethal
|
[NCBI]
|
8.08876e-05
|
|
|
mesomelic limb shortening and bowing
|
[NCBI]
|
8.08876e-05
|
|
|
tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies
|
[NCBI]
|
8.08876e-05
|
|
|
epilepsy, benign neonatal, autosomal recessive
|
[NCBI]
|
8.08876e-05
|
|
|
temtamy preaxial brachydactyly syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
nose, anomalous shape of
|
[NCBI]
|
8.08876e-05
|
|
|
PCH6
|
[NCBI]
|
8.08876e-05
|
|
|
hypouricemia, hypercalcinuria, and decreased bone density
|
[NCBI]
|
8.08876e-05
|
|
|
midline malformations, multiple, with limb abnormalities and hypopituitarism
|
[NCBI]
|
8.08876e-05
|
|
|
cystic kidney disease with ventriculomegaly
|
[NCBI]
|
8.08876e-05
|
|
|
vascular malformation, primary intraosseous
|
[NCBI]
|
8.08876e-05
|
|
|
microcephaly with cervical spine fusion anomalies
|
[NCBI]
|
8.08876e-05
|
|
|
aplasia cutis congenita, high myopia, and cone-rod dysfunction
|
[NCBI]
|
8.08876e-05
|
|
|
pellagra-like syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
hutterite cerebroosteonephrodysplasia syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
megalencephaly with dysmyelination
|
[NCBI]
|
8.08876e-05
|
|
|
3-@methylglutaconic aciduria, type v
|
[NCBI]
|
8.08876e-05
|
|
|
SCDO2
|
[NCBI]
|
8.08876e-05
|
|
|
CORD9
|
[NCBI]
|
8.08876e-05
|
|
|
ehlers-danlos syndrome, beasley-cohen type
|
[NCBI]
|
8.08876e-05
|
|
|
aredyld
|
[NCBI]
|
8.08876e-05
|
|
|
arthrogryposis, distal, with peculiar facies and hydronephrosis
|
[NCBI]
|
8.08876e-05
|
|
|
spastic quadriplegia, retinitis pigmentosa, and mental retardation
|
[NCBI]
|
8.08876e-05
|
|
|
cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction
|
[NCBI]
|
8.08876e-05
|
|
|
cd8 deficiency, familial
|
[NCBI]
|
8.08876e-05
|
|
|
macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
|
[NCBI]
|
8.08876e-05
|
|
|
osteogenesis imperfecta, sillence type ii/iii, without abnormality of type i collagen
|
[NCBI]
|
8.08876e-05
|
|
|
thoracic dysplasia-hydrocephalus syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
spastic paraplegia with myoclonic epilepsy
|
[NCBI]
|
8.08876e-05
|
|
|
pachyonychia congenita, recessive
|
[NCBI]
|
8.08876e-05
|
|
|
megarbane syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
blood group--en
|
[NCBI]
|
8.08876e-05
|
|
|
ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
|
[NCBI]
|
8.08876e-05
|
|
|
hypotrichosis-lymphedema-telangiectasia syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
spondyloepiphyseal dysplasia tarda with mental retardation
|
[NCBI]
|
8.08876e-05
|
|
|
dermatoglyphics--arch on any digit
|
[NCBI]
|
8.08876e-05
|
|
|
crane-heise syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
CATCN2
|
[NCBI]
|
8.08876e-05
|
|
|
multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism
|
[NCBI]
|
8.08876e-05
|
|
|
multiple congenital anomalies syndrome with cloverleaf skull
|
[NCBI]
|
8.08876e-05
|
|
|
spinocerebellar degeneration and corneal dystrophy
|
[NCBI]
|
8.08876e-05
|
|
|
hair defect with photosensitivity and mental retardation
|
[NCBI]
|
8.08876e-05
|
|
|
macdermot-winter syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
craniosynostosis syndrome, autosomal recessive
|
[NCBI]
|
8.08876e-05
|
|
|
trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
|
[NCBI]
|
8.08876e-05
|
|
|
lutheran null
|
[NCBI]
|
8.08876e-05
|
|
|
polydactyly, postaxial, with dental and vertebral anomalies
|
[NCBI]
|
8.08876e-05
|
|
|
cleft palate, cardiac defect, genital anomalies, and ectrodactyly
|
[NCBI]
|
8.08876e-05
|
|
|
porencephaly, cerebellar hypoplasia, and internal malformations
|
[NCBI]
|
8.08876e-05
|
|
|
spinal muscular atrophy with mental retardation
|
[NCBI]
|
8.08876e-05
|
|
|
cardioauditory syndrome of sanchez cascos
|
[NCBI]
|
8.08876e-05
|
|
|
COXPD5
|
[NCBI]
|
8.08876e-05
|
|
|
epiphyseal dysplasia of femoral head, myopia, and deafness
|
[NCBI]
|
8.08876e-05
|
|
|
trisomy 18-like syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
cerebral malformation, seizures, hypertrichosis, and overlapping fingers
|
[NCBI]
|
8.08876e-05
|
|
|
pili torti and developmental delay
|
[NCBI]
|
8.08876e-05
|
|
|
ascites, chylous
|
[NCBI]
|
8.08876e-05
|
|
|
chondrodysplasia, lethal, with long bone angulation and mixed bone density
|
[NCBI]
|
8.08876e-05
|
|
|
brachioskeletogenital syndrome
|
[NCBI]
|
8.08876e-05
|
|
|
spastic paraplegia, optic atrophy, microcephaly, and xy sex reversal
|
[NCBI]
|
8.08876e-05
|
|
|
myopathy with abnormal lipid metabolism
|
[NCBI]
|
8.08876e-05
|
|
|
acrocraniofacial dysostosis
|
[NCBI]
|
8.08876e-05
|
|
|
metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
|
[NCBI]
|
8.08876e-05
|
|
|
growth retardation, small and puffy hands and feet, and eczema
|
[NCBI]
|
8.08876e-05
|
|
|
PLOD1
|
[NCBI]
|
8.08853e-05
|
|
|
CYP1B1
|
[NCBI]
|
7.97891e-05
|
|
|
ectodermal dysplasia, anhidrotic
|
[NCBI]
|
7.96691e-05
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
7.96691e-05
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
7.96691e-05
|
|
|
AOII
|
[NCBI]
|
7.96691e-05
|
|
|
MCOPS9
|
[NCBI]
|
7.96691e-05
|
|
|
three m syndrome
|
[NCBI]
|
7.96691e-05
|
|
|
CORD3
|
[NCBI]
|
7.96691e-05
|
|
|
HGPPS
|
[NCBI]
|
7.96691e-05
|
|
|
winchester syndrome
|
[NCBI]
|
7.96691e-05
|
|
|
acromesomelic dysplasia, hunter-thompson type
|
[NCBI]
|
7.96691e-05
|
|
|
HOMG3
|
[NCBI]
|
7.96691e-05
|
|
|
CZP3
|
[NCBI]
|
7.96691e-05
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
7.95592e-05
|
|
|
FKRP
|
[NCBI]
|
7.77413e-05
|
|
|
CHH
|
[NCBI]
|
7.66317e-05
|
|
|
UCMD
|
[NCBI]
|
7.65699e-05
|
|
|
TMPRSS3
|
[NCBI]
|
7.64487e-05
|
|
|
OFC1
|
[NCBI]
|
7.5035e-05
|
|
|
RTD
|
[NCBI]
|
7.39145e-05
|
|
|
fraser syndrome
|
[NCBI]
|
7.39145e-05
|
|
|
MKKS
|
[NCBI]
|
7.38681e-05
|
|
|
TRMA
|
[NCBI]
|
7.37987e-05
|
|
|
hyperprolinemia, type i
|
[NCBI]
|
7.37987e-05
|
|
|
CHED2
|
[NCBI]
|
7.37987e-05
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
7.37987e-05
|
|
|
CMT4B1
|
[NCBI]
|
7.37987e-05
|
|
|
PD
|
[NCBI]
|
7.19185e-05
|
|
|
MLC
|
[NCBI]
|
7.1403e-05
|
|
|
LI1
|
[NCBI]
|
7.09067e-05
|
|
|
NPHP1
|
[NCBI]
|
6.96315e-05
|
|
|
SCDO1
|
[NCBI]
|
6.90223e-05
|
|
|
PLSJ
|
[NCBI]
|
6.87721e-05
|
|
|
RP12
|
[NCBI]
|
6.87721e-05
|
|
|
immunoosseous dysplasia, schimke type
|
[NCBI]
|
6.87721e-05
|
|
|
SPG11
|
[NCBI]
|
6.87721e-05
|
|
|
PITX3
|
[NCBI]
|
6.78457e-05
|
|
|
SOST
|
[NCBI]
|
6.78457e-05
|
|
|
FDH
|
[NCBI]
|
6.6761e-05
|
|
|
PWS
|
[NCBI]
|
6.4955e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
6.48646e-05
|
|
|
alsin
|
[NCBI]
|
6.47439e-05
|
|
|
LCA1
|
[NCBI]
|
6.46091e-05
|
|
|
DFNB9
|
[NCBI]
|
6.43868e-05
|
|
|
hydrocephalus
|
[NCBI]
|
6.43868e-05
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
6.43868e-05
|
|
|
corneal dystrophy, gelatinous drop-like
|
[NCBI]
|
6.43868e-05
|
|
|
CTLN2
|
[NCBI]
|
6.43868e-05
|
|
|
varadi-papp syndrome
|
[NCBI]
|
6.33624e-05
|
|
|
stiff skin syndrome
|
[NCBI]
|
6.33624e-05
|
|
|
gonadal dysgenesis, xy type
|
[NCBI]
|
6.33624e-05
|
|
|
ZLS
|
[NCBI]
|
6.33624e-05
|
|
|
CTSC
|
[NCBI]
|
6.20504e-05
|
|
|
LHX3
|
[NCBI]
|
6.09318e-05
|
|
|
HHF2
|
[NCBI]
|
6.07571e-05
|
|
|
usher syndrome, type i
|
[NCBI]
|
6.05993e-05
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
6.05993e-05
|
|
|
LCA5
|
[NCBI]
|
6.05535e-05
|
|
|
EVER2
|
[NCBI]
|
6.05535e-05
|
|
|
ATS
|
[NCBI]
|
6.05056e-05
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
6.05056e-05
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
6.05056e-05
|
|
|
AS
|
[NCBI]
|
5.98869e-05
|
|
|
DLL3
|
[NCBI]
|
5.98267e-05
|
|
|
FGB
|
[NCBI]
|
5.98267e-05
|
|
|
SFD
|
[NCBI]
|
5.70312e-05
|
|
|
hyperlipoproteinemia, type ii
|
[NCBI]
|
5.70312e-05
|
|
|
MCDC1
|
[NCBI]
|
5.70312e-05
|
|
|
SNDI
|
[NCBI]
|
5.70312e-05
|
|
|
apolipoprotein c-ii deficiency
|
[NCBI]
|
5.70312e-05
|
|
|
lipoid proteinosis of urbach and wiethe
|
[NCBI]
|
5.70312e-05
|
|
|
pejvakin
|
[NCBI]
|
5.5433e-05
|
|
|
EVER1
|
[NCBI]
|
5.5433e-05
|
|
|
STRA6
|
[NCBI]
|
5.5433e-05
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
5.38921e-05
|
|
|
ACCPN
|
[NCBI]
|
5.38921e-05
|
|
|
epidermolysis bullosa simplex and limb-girdle muscular dystrophy
|
[NCBI]
|
5.38921e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
5.38921e-05
|
|
|
ALS2
|
[NCBI]
|
5.38921e-05
|
|
|
OPPG
|
[NCBI]
|
5.38921e-05
|
|
|
NCIE1
|
[NCBI]
|
5.38921e-05
|
|
|
CRYAA
|
[NCBI]
|
5.3601e-05
|
|
|
phenylketonuria
|
[NCBI]
|
5.35799e-05
|
|
|
LOCS
|
[NCBI]
|
5.34702e-05
|
|
|
AGS2
|
[NCBI]
|
5.34702e-05
|
|
|
cerebellar ataxia and ectodermal dysplasia
|
[NCBI]
|
5.34702e-05
|
|
|
young-simpson syndrome
|
[NCBI]
|
5.34702e-05
|
|
|
deafness, cochlear, with myopia and intellectual impairment
|
[NCBI]
|
5.34702e-05
|
|
|
biliary malformation with renal tubular insufficiency
|
[NCBI]
|
5.34702e-05
|
|
|
acrorenal-mandibular syndrome
|
[NCBI]
|
5.34702e-05
|
|
|
bruck syndrome 2
|
[NCBI]
|
5.34702e-05
|
|
|
peeling skin syndrome, acral type
|
[NCBI]
|
5.34702e-05
|
|
|
eem syndrome
|
[NCBI]
|
5.34702e-05
|
|
|
NFRCD
|
[NCBI]
|
5.34702e-05
|
|
|
cahmr syndrome
|
[NCBI]
|
5.34702e-05
|
|
|
eiken skeletal dysplasia
|
[NCBI]
|
5.34702e-05
|
|
|
tetra-amelia, autosomal recessive
|
[NCBI]
|
5.34702e-05
|
|
|
ataxia-deafness-retardation syndrome
|
[NCBI]
|
5.34702e-05
|
|
|
SLSN4
|
[NCBI]
|
5.34702e-05
|
|
|
alopecia-contractures-dwarfism mental retardation syndrome
|
[NCBI]
|
5.34702e-05
|
|
|
hypoproteinemia, hypercatabolic
|
[NCBI]
|
5.34702e-05
|
|
|
aarskog syndrome
|
[NCBI]
|
5.34702e-05
|
|
|
CMH8
|
[NCBI]
|
5.34702e-05
|
|
|
ehlers-danlos syndrome, autosomal recessive, cardiac valvular form
|
[NCBI]
|
5.34702e-05
|
|
|
craniosynostosis-microcephaly with chromosomal breakage and other abnormalities
|
[NCBI]
|
5.34702e-05
|
|
|
carnevale syndrome
|
[NCBI]
|
5.34702e-05
|
|
|
JBTS4
|
[NCBI]
|
5.34702e-05
|
|
|
achalasia-microcephaly syndrome
|
[NCBI]
|
5.34702e-05
|
|
|
MCOPCB4
|
[NCBI]
|
5.34702e-05
|
|
|
deafness, congenital, with total albinism
|
[NCBI]
|
5.34702e-05
|
|
|
hypoplastic left heart syndrome
|
[NCBI]
|
5.34702e-05
|
|
|
alpha-2-deficient collagen disease
|
[NCBI]
|
5.34702e-05
|
|
|
mental retardation syndrome, mietens-weber type
|
[NCBI]
|
5.34702e-05
|
|
|
ichthyosis hystrix gravior
|
[NCBI]
|
5.34702e-05
|
|
|
fibromatosis, gingival, with hypertrichosis
|
[NCBI]
|
5.34702e-05
|
|
|
acrofrontofacionasal dysostosis syndrome
|
[NCBI]
|
5.34702e-05
|
|
|
sjogren-larsson-like ichthyosis without cns or eye involvement
|
[NCBI]
|
5.34702e-05
|
|
|
DFNB49
|
[NCBI]
|
5.34702e-05
|
|
|
beta-hydroxyisobutyryl coa deacylase, deficiency of
|
[NCBI]
|
5.34702e-05
|
|
|
heterotopia, periventricular, autosomal recessive
|
[NCBI]
|
5.34702e-05
|
|
|
craniosynostosis with fibular aplasia
|
[NCBI]
|
5.34702e-05
|
|
|
lambert syndrome
|
[NCBI]
|
5.34702e-05
|
|
|
chands
|
[NCBI]
|
5.34702e-05
|
|
|
SCDO3
|
[NCBI]
|
5.34702e-05
|
|
|
retinitis pigmentosa, deafness, mental retardation, and hypogonadism
|
[NCBI]
|
5.34702e-05
|
|
|
MCPH3
|
[NCBI]
|
5.34702e-05
|
|
|
acrofrontofacionasal dysostosis, severe
|
[NCBI]
|
5.34702e-05
|
|
|
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
|
[NCBI]
|
5.34702e-05
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
5.34702e-05
|
|
|
lissencephaly type iii and bone dysplasia
|
[NCBI]
|
5.34702e-05
|
|
|
eyebrows, duplication of, with stretchable skin and syndactyly
|
[NCBI]
|
5.34702e-05
|
|
|
mental retardation, buenos aires type
|
[NCBI]
|
5.34702e-05
|
|
|
CMT2K
|
[NCBI]
|
5.34702e-05
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
5.2056e-05
|
|
|
ACG1A
|
[NCBI]
|
5.2056e-05
|
|
|
costello syndrome
|
[NCBI]
|
5.19818e-05
|
|
|
SPG3A
|
[NCBI]
|
5.19818e-05
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
5.19818e-05
|
|
|
CATSPER2
|
[NCBI]
|
5.19223e-05
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
5.19223e-05
|
|
|
PUS1
|
[NCBI]
|
5.19223e-05
|
|
|
EVC
|
[NCBI]
|
5.19223e-05
|
|
|
TTDN1
|
[NCBI]
|
5.19223e-05
|
|
|
mucopolysaccharidosis type iiic
|
[NCBI]
|
5.10343e-05
|
|
|
CDS
|
[NCBI]
|
5.10343e-05
|
|
|
diabetes insipidus, nephrogenic, autosomal
|
[NCBI]
|
5.10343e-05
|
|
|
LGMD1B
|
[NCBI]
|
5.10343e-05
|
|
|
erythrocytosis, familial, 2
|
[NCBI]
|
5.10343e-05
|
|
|
asplenia with cardiovascular anomalies
|
[NCBI]
|
5.10343e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
5.10343e-05
|
|
|
JBS
|
[NCBI]
|
5.10343e-05
|
|
|
HSCR2
|
[NCBI]
|
5.10343e-05
|
|
|
PROP1
|
[NCBI]
|
5.08487e-05
|
|
|
SBF2
|
[NCBI]
|
4.92352e-05
|
|
|
HSD17B3
|
[NCBI]
|
4.92352e-05
|
|
|
SJS1
|
[NCBI]
|
4.89915e-05
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
4.89915e-05
|
|
|
nondisjunction
|
[NCBI]
|
4.84156e-05
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
4.84156e-05
|
|
|
JH
|
[NCBI]
|
4.84156e-05
|
|
|
myasthenic syndrome, congenital, associated with episodic apnea
|
[NCBI]
|
4.84156e-05
|
|
|
complement factor h deficiency
|
[NCBI]
|
4.84156e-05
|
|
|
CDG2C
|
[NCBI]
|
4.84156e-05
|
|
|
SOST
|
[NCBI]
|
4.84156e-05
|
|
|
RECQL3
|
[NCBI]
|
4.79351e-05
|
|
|
vitamin d-dependent rickets, type ii
|
[NCBI]
|
4.75785e-05
|
|
|
MEB
|
[NCBI]
|
4.75785e-05
|
|
|
WFS1
|
[NCBI]
|
4.75785e-05
|
|
|
MLYCD
|
[NCBI]
|
4.70552e-05
|
|
|
CRYM
|
[NCBI]
|
4.70552e-05
|
|
|
NPHP4
|
[NCBI]
|
4.70552e-05
|
|
|
GDF5
|
[NCBI]
|
4.64005e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
4.62162e-05
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
4.62162e-05
|
|
|
lecithin:cholesterol acyltransferase deficiency
|
[NCBI]
|
4.6003e-05
|
|
|
HSAN2
|
[NCBI]
|
4.6003e-05
|
|
|
FANCA
|
[NCBI]
|
4.54499e-05
|
|
|
RAG1
|
[NCBI]
|
4.54499e-05
|
|
|
LAMB2
|
[NCBI]
|
4.52203e-05
|
|
|
LPIN2
|
[NCBI]
|
4.52203e-05
|
|
|
TMC1
|
[NCBI]
|
4.52203e-05
|
|
|
CLDN14
|
[NCBI]
|
4.52203e-05
|
|
|
PKLR
|
[NCBI]
|
4.45502e-05
|
|
|
RSMD1
|
[NCBI]
|
4.37697e-05
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
4.37697e-05
|
|
|
CD3D
|
[NCBI]
|
4.36359e-05
|
|
|
CHX10
|
[NCBI]
|
4.36359e-05
|
|
|
PTF1A
|
[NCBI]
|
4.36359e-05
|
|
|
DWS
|
[NCBI]
|
4.35211e-05
|
|
|
MCPH6
|
[NCBI]
|
4.33436e-05
|
|
|
DFNB67
|
[NCBI]
|
4.33436e-05
|
|
|
OPTB4
|
[NCBI]
|
4.33436e-05
|
|
|
IAHSP
|
[NCBI]
|
4.33436e-05
|
|
|
spondylocostal dysostosis with anal atresia and urogenital anomalies
|
[NCBI]
|
4.33436e-05
|
|
|
dyskeratosis congenita, autosomal recessive
|
[NCBI]
|
4.33436e-05
|
|
|
malpuech facial clefting syndrome
|
[NCBI]
|
4.33436e-05
|
|
|
LCA4
|
[NCBI]
|
4.33436e-05
|
|
|
MCOPCB3
|
[NCBI]
|
4.33436e-05
|
|
|
sertoli cell-only syndrome
|
[NCBI]
|
4.33436e-05
|
|
|
aglossia-adactylia
|
[NCBI]
|
4.33436e-05
|
|
|
DFNB31
|
[NCBI]
|
4.33436e-05
|
|
|
phosphoglycerate dehydrogenase deficiency
|
[NCBI]
|
4.33436e-05
|
|
|
hypothyroidism, athyroidal, with spiky hair and cleft palate
|
[NCBI]
|
4.33436e-05
|
|
|
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
|
[NCBI]
|
4.33436e-05
|
|
|
muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
|
[NCBI]
|
4.33436e-05
|
|
|
DFNB16
|
[NCBI]
|
4.33436e-05
|
|
|
diabetes mellitus, permanent neonatal, with cerebellar agenesis
|
[NCBI]
|
4.33436e-05
|
|
|
retinitis pigmentosa, late-adult onset
|
[NCBI]
|
4.33436e-05
|
|
|
epstein-barr virus, susceptibility to chronic infection by
|
[NCBI]
|
4.33436e-05
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
4.33436e-05
|
|
|
HJMD
|
[NCBI]
|
4.33436e-05
|
|
|
cushing disease, pituitary
|
[NCBI]
|
4.33436e-05
|
|
|
DFNA36
|
[NCBI]
|
4.33436e-05
|
|
|
interleukin 2 receptor, alpha, deficiency of
|
[NCBI]
|
4.33436e-05
|
|
|
combined saposin deficiency
|
[NCBI]
|
4.33436e-05
|
|
|
LCA10
|
[NCBI]
|
4.33436e-05
|
|
|
mandibulofacial dysostosis, treacher collins type, autosomal recessive
|
[NCBI]
|
4.33436e-05
|
|
|
hydrocephalus due to congenital stenosis of aqueduct of sylvius
|
[NCBI]
|
4.33436e-05
|
|
|
macrocephaly
|
[NCBI]
|
4.33436e-05
|
|
|
RP26
|
[NCBI]
|
4.33436e-05
|
|
|
ABCA4
|
[NCBI]
|
4.32854e-05
|
|
|
HSCR1
|
[NCBI]
|
4.31022e-05
|
|
|
marden-walker syndrome
|
[NCBI]
|
4.24978e-05
|
|
|
SLC19A2
|
[NCBI]
|
4.2242e-05
|
|
|
pituitary dwarfism i
|
[NCBI]
|
4.16938e-05
|
|
|
AVSD
|
[NCBI]
|
4.16326e-05
|
|
|
pyruvate kinase deficiency of red cells
|
[NCBI]
|
4.12201e-05
|
|
|
SGCG
|
[NCBI]
|
4.09978e-05
|
|
|
CVID
|
[NCBI]
|
4.03081e-05
|
|
|
MYO15A
|
[NCBI]
|
3.98744e-05
|
|
|
MCPH1
|
[NCBI]
|
3.98744e-05
|
|
|
ASPM
|
[NCBI]
|
3.98744e-05
|
|
|
MERTK
|
[NCBI]
|
3.98744e-05
|
|
|
BFSP2
|
[NCBI]
|
3.98744e-05
|
|
|
TTDP
|
[NCBI]
|
3.97573e-05
|
|
|
CRYGC
|
[NCBI]
|
3.88506e-05
|
|
|
PAPSS2
|
[NCBI]
|
3.88506e-05
|
|
|
canavan disease
|
[NCBI]
|
3.79451e-05
|
|
|
epidermolysis bullosa letalis
|
[NCBI]
|
3.79451e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive
|
[NCBI]
|
3.79451e-05
|
|
|
tyrosine transaminase deficiency
|
[NCBI]
|
3.79102e-05
|
|
|
FUT1
|
[NCBI]
|
3.70409e-05
|
|
|
3-@hydroxy-3-methylglutaryl-coa lyase deficiency
|
[NCBI]
|
3.70409e-05
|
|
|
immunodeficiency with hyper-igm, type 3
|
[NCBI]
|
3.68924e-05
|
|
|
CAMT
|
[NCBI]
|
3.68924e-05
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
3.68924e-05
|
|
|
bartter syndrome, antenatal, type 1
|
[NCBI]
|
3.68924e-05
|
|
|
gonadal agenesis
|
[NCBI]
|
3.68924e-05
|
|
|
tongue curling, folding, or rolling
|
[NCBI]
|
3.68924e-05
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
3.68924e-05
|
|
|
papilloma of choroid plexus
|
[NCBI]
|
3.68924e-05
|
|
|
PRD
|
[NCBI]
|
3.68924e-05
|
|
|
SPG20
|
[NCBI]
|
3.68924e-05
|
|
|
fibromatosis, juvenile hyaline
|
[NCBI]
|
3.68924e-05
|
|
|
gastritis, familial giant hypertrophic
|
[NCBI]
|
3.68924e-05
|
|
|
2-@methylbutyryl-coa dehydrogenase deficiency
|
[NCBI]
|
3.68924e-05
|
|
|
hydroxyprolinemia
|
[NCBI]
|
3.68924e-05
|
|
|
hyperlysinemia
|
[NCBI]
|
3.68924e-05
|
|
|
oculopalatoskeletal syndrome
|
[NCBI]
|
3.68924e-05
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
3.66821e-05
|
|
|
CYP4F22
|
[NCBI]
|
3.59448e-05
|
|
|
CISD2
|
[NCBI]
|
3.59448e-05
|
|
|
AASS
|
[NCBI]
|
3.59448e-05
|
|
|
KCTD7
|
[NCBI]
|
3.59448e-05
|
|
|
PANK2
|
[NCBI]
|
3.54779e-05
|
|
|
RAPSN
|
[NCBI]
|
3.54779e-05
|
|
|
LYST
|
[NCBI]
|
3.54779e-05
|
|
|
donohue syndrome
|
[NCBI]
|
3.46441e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
3.46441e-05
|
|
|
MDC1A
|
[NCBI]
|
3.46441e-05
|
|
|
CHAC
|
[NCBI]
|
3.46441e-05
|
|
|
epidermolysis bullosa with pyloric atresia
|
[NCBI]
|
3.46441e-05
|
|
|
ALDOA
|
[NCBI]
|
3.41031e-05
|
|
|
3-@beta-hydroxysteroid dehydrogenase, type ii, deficiency of
|
[NCBI]
|
3.34732e-05
|
|
|
SPR
|
[NCBI]
|
3.34732e-05
|
|
|
GUCY2D
|
[NCBI]
|
3.34732e-05
|
|
|
COL11A2
|
[NCBI]
|
3.34732e-05
|
|
|
LS
|
[NCBI]
|
3.3192e-05
|
|
|
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|
[NCBI]
|
3.3135e-05
|
|
|
TGD
|
[NCBI]
|
3.3135e-05
|
|
|
RAG2
|
[NCBI]
|
3.28765e-05
|
|
|
phenylketonuria ii
|
[NCBI]
|
3.28765e-05
|
|
|
WRN
|
[NCBI]
|
3.25137e-05
|
|
|
polycystic kidneys
|
[NCBI]
|
3.24845e-05
|
|
|
GPR54
|
[NCBI]
|
3.23096e-05
|
|
|
ODG1
|
[NCBI]
|
3.21867e-05
|
|
|
peroxisomal acyl-coa oxidase deficiency
|
[NCBI]
|
3.21867e-05
|
|
|
spinal muscular atrophy, type i, with congenital bone fractures
|
[NCBI]
|
3.21867e-05
|
|
|
KRS
|
[NCBI]
|
3.21867e-05
|
|
|
OPTB5
|
[NCBI]
|
3.21867e-05
|
|
|
LI2
|
[NCBI]
|
3.21867e-05
|
|
|
carpenter syndrome
|
[NCBI]
|
3.21867e-05
|
|
|
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
|
[NCBI]
|
3.21867e-05
|
|
|
ablepharon-macrostomia syndrome
|
[NCBI]
|
3.21867e-05
|
|
|
APBD
|
[NCBI]
|
3.21867e-05
|
|
|
pulmonary alveolar microlithiasis
|
[NCBI]
|
3.21867e-05
|
|
|
DFNB2
|
[NCBI]
|
3.21867e-05
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
3.21867e-05
|
|
|
CVG/MR
|
[NCBI]
|
3.21867e-05
|
|
|
NPHP4
|
[NCBI]
|
3.21867e-05
|
|
|
budd-chiari syndrome
|
[NCBI]
|
3.21867e-05
|
|
|
eunuchoidism, familial hypogonadotropic
|
[NCBI]
|
3.21867e-05
|
|
|
AH
|
[NCBI]
|
3.21867e-05
|
|
|
epidermolysis bullosa herpetiformis, dowling-meara type
|
[NCBI]
|
3.21867e-05
|
|
|
schneckenbecken dysplasia
|
[NCBI]
|
3.21867e-05
|
|
|
FCMD
|
[NCBI]
|
3.20835e-05
|
|
|
ASS
|
[NCBI]
|
3.14129e-05
|
|
|
WFS1
|
[NCBI]
|
3.12547e-05
|
|
|
ATR
|
[NCBI]
|
3.12547e-05
|
|
|
AVP
|
[NCBI]
|
3.05547e-05
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
3.03663e-05
|
|
|
MIP
|
[NCBI]
|
3.02902e-05
|
|
|
SRD5A2
|
[NCBI]
|
3.02902e-05
|
|
|
HEXA
|
[NCBI]
|
3.02869e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
2.97059e-05
|
|
|
CRYAB
|
[NCBI]
|
2.94022e-05
|
|
|
CTSK
|
[NCBI]
|
2.94022e-05
|
|
|
ALMS
|
[NCBI]
|
2.90787e-05
|
|
|
GJA8
|
[NCBI]
|
2.89834e-05
|
|
|
TIMP3
|
[NCBI]
|
2.89834e-05
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
2.85092e-05
|
|
|
ADCC
|
[NCBI]
|
2.85092e-05
|
|
|
DFNB18
|
[NCBI]
|
2.85092e-05
|
|
|
LIS2
|
[NCBI]
|
2.85092e-05
|
|
|
pyruvate dehydrogenase e3-binding protein deficiency
|
[NCBI]
|
2.85092e-05
|
|
|
DFNB10
|
[NCBI]
|
2.85092e-05
|
|
|
tibial hemimelia
|
[NCBI]
|
2.85092e-05
|
|
|
CNA2
|
[NCBI]
|
2.85092e-05
|
|
|
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
|
[NCBI]
|
2.85092e-05
|
|
|
peters anomaly
|
[NCBI]
|
2.85092e-05
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
2.85092e-05
|
|
|
oguchi disease
|
[NCBI]
|
2.85092e-05
|
|
|
thyrotropin deficiency, isolated
|
[NCBI]
|
2.85092e-05
|
|
|
RCDP2
|
[NCBI]
|
2.85092e-05
|
|
|
SPG13
|
[NCBI]
|
2.85092e-05
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
2.85092e-05
|
|
|
CGL1
|
[NCBI]
|
2.85092e-05
|
|
|
fumarase deficiency
|
[NCBI]
|
2.85092e-05
|
|
|
elejalde disease
|
[NCBI]
|
2.85092e-05
|
|
|
minicore myopathy with external ophthalmoplegia
|
[NCBI]
|
2.85092e-05
|
|
|
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
|
[NCBI]
|
2.85092e-05
|
|
|
tyrosinemia, type iii
|
[NCBI]
|
2.85092e-05
|
|
|
TYR
|
[NCBI]
|
2.82565e-05
|
|
|
SLS
|
[NCBI]
|
2.79654e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
2.78627e-05
|
|
|
NPC1
|
[NCBI]
|
2.78143e-05
|
|
|
CSTB
|
[NCBI]
|
2.78143e-05
|
|
|
MPP4
|
[NCBI]
|
2.77114e-05
|
|
|
ATPAF2
|
[NCBI]
|
2.77114e-05
|
|
|
HYLS1
|
[NCBI]
|
2.77114e-05
|
|
|
dynein, axonemal, intermediate chain 2
|
[NCBI]
|
2.77114e-05
|
|
|
RARS2
|
[NCBI]
|
2.77114e-05
|
|
|
TMIE
|
[NCBI]
|
2.77114e-05
|
|
|
WNT10A
|
[NCBI]
|
2.77114e-05
|
|
|
OTOA
|
[NCBI]
|
2.77114e-05
|
|
|
ichthyin
|
[NCBI]
|
2.77114e-05
|
|
|
DNAJC19
|
[NCBI]
|
2.77114e-05
|
|
|
hormone-regulated proliferation-associated protein, 20-kd
|
[NCBI]
|
2.77114e-05
|
|
|
CTPP4
|
[NCBI]
|
2.77114e-05
|
|
|
mesoderm posterior 1
|
[NCBI]
|
2.77114e-05
|
|
|
MCEE
|
[NCBI]
|
2.77114e-05
|
|
|
KIAA1279
|
[NCBI]
|
2.77114e-05
|
|
|
FTL
|
[NCBI]
|
2.74505e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
2.74505e-05
|
|
|
IL12B
|
[NCBI]
|
2.70984e-05
|
|
|
DYSF
|
[NCBI]
|
2.70984e-05
|
|
|
APS1
|
[NCBI]
|
2.69655e-05
|
|
|
POU1F1
|
[NCBI]
|
2.67572e-05
|
|
|
COL1A1
|
[NCBI]
|
2.61895e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
2.61051e-05
|
|
|
MYO7A
|
[NCBI]
|
2.57931e-05
|
|
|
PTHR1
|
[NCBI]
|
2.57931e-05
|
|
|
CFH
|
[NCBI]
|
2.56484e-05
|
|
|
complement component 5 deficiency
|
[NCBI]
|
2.5511e-05
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
2.5511e-05
|
|
|
CLN6
|
[NCBI]
|
2.5511e-05
|
|
|
frontonasal dysplasia
|
[NCBI]
|
2.5511e-05
|
|
|
KNO
|
[NCBI]
|
2.5511e-05
|
|
|
agammaglobulinemia, non-bruton type, autosomal recessive
|
[NCBI]
|
2.5511e-05
|
|
|
F5F8D
|
[NCBI]
|
2.5511e-05
|
|
|
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
|
[NCBI]
|
2.5511e-05
|
|
|
GBS
|
[NCBI]
|
2.5511e-05
|
|
|
ALS4
|
[NCBI]
|
2.5511e-05
|
|
|
CDG1C
|
[NCBI]
|
2.5511e-05
|
|
|
CSNB1B
|
[NCBI]
|
2.5511e-05
|
|
|
congenital disorder of glycosylation, type i/iix
|
[NCBI]
|
2.5511e-05
|
|
|
hemochromatosis, neonatal
|
[NCBI]
|
2.5511e-05
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
2.5511e-05
|
|
|
ASPA
|
[NCBI]
|
2.54899e-05
|
|
|
APOC2
|
[NCBI]
|
2.54899e-05
|
|
|
SLC26A4
|
[NCBI]
|
2.54899e-05
|
|
|
FGG
|
[NCBI]
|
2.54899e-05
|
|
|
wolman disease
|
[NCBI]
|
2.51949e-05
|
|
|
EDNRB
|
[NCBI]
|
2.49077e-05
|
|
|
PHGDH
|
[NCBI]
|
2.46125e-05
|
|
|
parathyroid hormone-responsive b1 gene
|
[NCBI]
|
2.46125e-05
|
|
|
ACAD8
|
[NCBI]
|
2.46125e-05
|
|
|
MRPS22
|
[NCBI]
|
2.46125e-05
|
|
|
ATP6V0A2
|
[NCBI]
|
2.46125e-05
|
|
|
CERKL
|
[NCBI]
|
2.46125e-05
|
|
|
CC2D1A
|
[NCBI]
|
2.46125e-05
|
|
|
LHFPL5
|
[NCBI]
|
2.46125e-05
|
|
|
DNAI1
|
[NCBI]
|
2.46125e-05
|
|
|
SMARCAL1
|
[NCBI]
|
2.46125e-05
|
|
|
HIBCH
|
[NCBI]
|
2.46125e-05
|
|
|
ATP6V0A4
|
[NCBI]
|
2.46125e-05
|
|
|
CRBN
|
[NCBI]
|
2.46125e-05
|
|
|
DYM
|
[NCBI]
|
2.46125e-05
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
2.45543e-05
|
|
|
HHC1
|
[NCBI]
|
2.45543e-05
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
2.40893e-05
|
|
|
INSR
|
[NCBI]
|
2.37822e-05
|
|
|
RBS
|
[NCBI]
|
2.35517e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
2.35517e-05
|
|
|
EPPK
|
[NCBI]
|
2.29956e-05
|
|
|
citrullinemia, type ii, neonatal-onset
|
[NCBI]
|
2.29956e-05
|
|
|
KCS
|
[NCBI]
|
2.29956e-05
|
|
|
HPS2
|
[NCBI]
|
2.29956e-05
|
|
|
carnitine palmitoyltransferase i deficiency
|
[NCBI]
|
2.29956e-05
|
|
|
MDC1C
|
[NCBI]
|
2.29956e-05
|
|
|
mal de meleda
|
[NCBI]
|
2.29956e-05
|
|
|
cryptorchidism, unilateral or bilateral
|
[NCBI]
|
2.29956e-05
|
|
|
TRS
|
[NCBI]
|
2.29956e-05
|
|
|
EPD
|
[NCBI]
|
2.29956e-05
|
|
|
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
|
[NCBI]
|
2.29956e-05
|
|
|
COL7A1
|
[NCBI]
|
2.26196e-05
|
|
|
ITGA7
|
[NCBI]
|
2.26051e-05
|
|
|
ARFGEF2
|
[NCBI]
|
2.26051e-05
|
|
|
GCS1
|
[NCBI]
|
2.26051e-05
|
|
|
HPS3
|
[NCBI]
|
2.26051e-05
|
|
|
CLN5
|
[NCBI]
|
2.26051e-05
|
|
|
CLK2
|
[NCBI]
|
2.26051e-05
|
|
|
L2HGDH
|
[NCBI]
|
2.26051e-05
|
|
|
SLC12A1
|
[NCBI]
|
2.26051e-05
|
|
|
SOX18
|
[NCBI]
|
2.26051e-05
|
|
|
DJS
|
[NCBI]
|
2.25937e-05
|
|
|
factor vii deficiency
|
[NCBI]
|
2.21718e-05
|
|
|
LPI
|
[NCBI]
|
2.18241e-05
|
|
|
BWS
|
[NCBI]
|
2.18047e-05
|
|
|
PARK2
|
[NCBI]
|
2.16775e-05
|
|
|
RLBP1
|
[NCBI]
|
2.1534e-05
|
|
|
LHCGR
|
[NCBI]
|
2.13298e-05
|
|
|
multiple coagulation factor deficiency protein 2
|
[NCBI]
|
2.1116e-05
|
|
|
FOXE3
|
[NCBI]
|
2.1116e-05
|
|
|
NDUFV2
|
[NCBI]
|
2.1116e-05
|
|
|
MALL
|
[NCBI]
|
2.1116e-05
|
|
|
FXYD2
|
[NCBI]
|
2.1116e-05
|
|
|
CDK5RAP2
|
[NCBI]
|
2.1116e-05
|
|
|
PMP2
|
[NCBI]
|
2.1116e-05
|
|
|
GCM2
|
[NCBI]
|
2.1116e-05
|
|
|
TGM5
|
[NCBI]
|
2.1116e-05
|
|
|
SH3TC2
|
[NCBI]
|
2.1116e-05
|
|
|
ACADSB
|
[NCBI]
|
2.1116e-05
|
|
|
CRYGS
|
[NCBI]
|
2.1116e-05
|
|
|
BFSP1
|
[NCBI]
|
2.1116e-05
|
|
|
ABCA12
|
[NCBI]
|
2.1116e-05
|
|
|
SLC7A8
|
[NCBI]
|
2.1116e-05
|
|
|
alpha-ketoglutarate dehydrogenase deficiency
|
[NCBI]
|
2.1116e-05
|
|
|
PLA2G6
|
[NCBI]
|
2.1116e-05
|
|
|
FBP1
|
[NCBI]
|
2.1116e-05
|
|
|
caffey disease
|
[NCBI]
|
2.08412e-05
|
|
|
INAD1
|
[NCBI]
|
2.08412e-05
|
|
|
gitelman syndrome
|
[NCBI]
|
2.08412e-05
|
|
|
polydactyly, postaxial, type a1
|
[NCBI]
|
2.08412e-05
|
|
|
OCA3
|
[NCBI]
|
2.08412e-05
|
|
|
EDM4
|
[NCBI]
|
2.08412e-05
|
|
|
RNS
|
[NCBI]
|
2.08412e-05
|
|
|
growth hormone insensitivity with immunodeficiency
|
[NCBI]
|
2.08412e-05
|
|
|
NPHP3
|
[NCBI]
|
2.08412e-05
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
2.08412e-05
|
|
|
RHN
|
[NCBI]
|
2.08412e-05
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
2.08412e-05
|
|
|
crigler-najjar syndrome, type ii
|
[NCBI]
|
2.08412e-05
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
2.08412e-05
|
|
|
GNRHR
|
[NCBI]
|
2.07401e-05
|
|
|
RP
|
[NCBI]
|
2.05853e-05
|
|
|
SLC2A2
|
[NCBI]
|
2.05508e-05
|
|
|
TH
|
[NCBI]
|
2.04816e-05
|
|
|
OCA2
|
[NCBI]
|
1.99604e-05
|
|
|
HSN2
|
[NCBI]
|
1.99322e-05
|
|
|
MESP2
|
[NCBI]
|
1.99322e-05
|
|
|
MYL3
|
[NCBI]
|
1.99322e-05
|
|
|
SLC4A11
|
[NCBI]
|
1.99322e-05
|
|
|
RFXANK
|
[NCBI]
|
1.99322e-05
|
|
|
COX10
|
[NCBI]
|
1.99322e-05
|
|
|
RSPO4
|
[NCBI]
|
1.99322e-05
|
|
|
PDHX
|
[NCBI]
|
1.99322e-05
|
|
|
NTF5
|
[NCBI]
|
1.99322e-05
|
|
|
CRYBB3
|
[NCBI]
|
1.99322e-05
|
|
|
ATP6V1B1
|
[NCBI]
|
1.99322e-05
|
|
|
GRK1
|
[NCBI]
|
1.99322e-05
|
|
|
CDAN1
|
[NCBI]
|
1.99322e-05
|
|
|
CDC25B
|
[NCBI]
|
1.99322e-05
|
|
|
GRIK2
|
[NCBI]
|
1.99322e-05
|
|
|
ALG6
|
[NCBI]
|
1.99322e-05
|
|
|
AGPAT2
|
[NCBI]
|
1.99322e-05
|
|
|
CHST6
|
[NCBI]
|
1.99322e-05
|
|
|
DGS
|
[NCBI]
|
1.92998e-05
|
|
|
FIH
|
[NCBI]
|
1.91549e-05
|
|
|
kartagener syndrome
|
[NCBI]
|
1.91549e-05
|
|
|
PARK1
|
[NCBI]
|
1.89671e-05
|
|
|
hypouricemia, renal
|
[NCBI]
|
1.89671e-05
|
|
|
17-@beta hydroxysteroid dehydrogenase iii deficiency
|
[NCBI]
|
1.89671e-05
|
|
|
LGMD2E
|
[NCBI]
|
1.89671e-05
|
|
|
alport syndrome, autosomal recessive
|
[NCBI]
|
1.89671e-05
|
|
|
USH1D
|
[NCBI]
|
1.89671e-05
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
1.89671e-05
|
|
|
ATLD
|
[NCBI]
|
1.89671e-05
|
|
|
CDB1
|
[NCBI]
|
1.89671e-05
|
|
|
afibrinogenemia, congenital
|
[NCBI]
|
1.89671e-05
|
|
|
argininemia
|
[NCBI]
|
1.89671e-05
|
|
|
BRIC1
|
[NCBI]
|
1.89671e-05
|
|
|
hypoparathyroidism, sensorineural deafness, and renal disease
|
[NCBI]
|
1.89671e-05
|
|
|
WZS
|
[NCBI]
|
1.89671e-05
|
|
|
PBT
|
[NCBI]
|
1.89671e-05
|
|
|
CMT4C
|
[NCBI]
|
1.89671e-05
|
|
|
glycogen storage disease ic
|
[NCBI]
|
1.89671e-05
|
|
|
ALDH4A1
|
[NCBI]
|
1.89501e-05
|
|
|
CLCN3
|
[NCBI]
|
1.89501e-05
|
|
|
SLURP1
|
[NCBI]
|
1.89501e-05
|
|
|
PMX1
|
[NCBI]
|
1.89501e-05
|
|
|
WHRN
|
[NCBI]
|
1.89501e-05
|
|
|
SEMA4A
|
[NCBI]
|
1.89501e-05
|
|
|
ALDH5A1
|
[NCBI]
|
1.89501e-05
|
|
|
GCLC
|
[NCBI]
|
1.89501e-05
|
|
|
C1QG
|
[NCBI]
|
1.89501e-05
|
|
|
ARIX
|
[NCBI]
|
1.89501e-05
|
|
|
B3GALNT1
|
[NCBI]
|
1.89501e-05
|
|
|
protein c deficiency, congenital thrombotic disease due to
|
[NCBI]
|
1.8829e-05
|
|
|
FA
|
[NCBI]
|
1.86372e-05
|
|
|
OCA1A
|
[NCBI]
|
1.83822e-05
|
|
|
TSD
|
[NCBI]
|
1.82191e-05
|
|
|
ABCG5
|
[NCBI]
|
1.81114e-05
|
|
|
PROM1
|
[NCBI]
|
1.81114e-05
|
|
|
NDUFS4
|
[NCBI]
|
1.81114e-05
|
|
|
TRIM32
|
[NCBI]
|
1.81114e-05
|
|
|
SLC39A4
|
[NCBI]
|
1.81114e-05
|
|
|
GNS
|
[NCBI]
|
1.81114e-05
|
|
|
WNT3
|
[NCBI]
|
1.81114e-05
|
|
|
CENPJ
|
[NCBI]
|
1.81114e-05
|
|
|
NT5C3
|
[NCBI]
|
1.81114e-05
|
|
|
SLC7A7
|
[NCBI]
|
1.81114e-05
|
|
|
SLC25A13
|
[NCBI]
|
1.81114e-05
|
|
|
SDHA
|
[NCBI]
|
1.81114e-05
|
|
|
FANCE
|
[NCBI]
|
1.81114e-05
|
|
|
GNAT2
|
[NCBI]
|
1.81114e-05
|
|
|
EVC2
|
[NCBI]
|
1.81114e-05
|
|
|
PARK2
|
[NCBI]
|
1.76366e-05
|
|
|
APOE
|
[NCBI]
|
1.74254e-05
|
|
|
TK2
|
[NCBI]
|
1.73799e-05
|
|
|
ABCG8
|
[NCBI]
|
1.73799e-05
|
|
|
SACS
|
[NCBI]
|
1.73799e-05
|
|
|
LAMC2
|
[NCBI]
|
1.73799e-05
|
|
|
UNC119
|
[NCBI]
|
1.73799e-05
|
|
|
CLCNKB
|
[NCBI]
|
1.73799e-05
|
|
|
metachromatic leukodystrophy due to saposin b deficiency
|
[NCBI]
|
1.73168e-05
|
|
|
BDC
|
[NCBI]
|
1.73168e-05
|
|
|
ASMD
|
[NCBI]
|
1.73168e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
1.73168e-05
|
|
|
galactokinase deficiency
|
[NCBI]
|
1.73168e-05
|
|
|
HSS
|
[NCBI]
|
1.73168e-05
|
|
|
BDB1
|
[NCBI]
|
1.73168e-05
|
|
|
DGI1
|
[NCBI]
|
1.73168e-05
|
|
|
Ii
|
[NCBI]
|
1.73168e-05
|
|
|
GINGF
|
[NCBI]
|
1.73168e-05
|
|
|
WS3
|
[NCBI]
|
1.73168e-05
|
|
|
PHA1
|
[NCBI]
|
1.73168e-05
|
|
|
IDUA
|
[NCBI]
|
1.70905e-05
|
|
|
HRG
|
[NCBI]
|
1.69586e-05
|
|
|
HHF1
|
[NCBI]
|
1.6928e-05
|
|
|
factor v deficiency
|
[NCBI]
|
1.68285e-05
|
|
|
IGAD1
|
[NCBI]
|
1.68075e-05
|
|
|
CDH3
|
[NCBI]
|
1.67317e-05
|
|
|
LMBR1
|
[NCBI]
|
1.67317e-05
|
|
|
GUCA1A
|
[NCBI]
|
1.67317e-05
|
|
|
PAPSS1
|
[NCBI]
|
1.67317e-05
|
|
|
A4GALT
|
[NCBI]
|
1.67317e-05
|
|
|
SETX
|
[NCBI]
|
1.67317e-05
|
|
|
SLC4A4
|
[NCBI]
|
1.67317e-05
|
|
|
IRAK4
|
[NCBI]
|
1.67317e-05
|
|
|
CLDN16
|
[NCBI]
|
1.67317e-05
|
|
|
flaujeac factor deficiency
|
[NCBI]
|
1.67317e-05
|
|
|
BBS4
|
[NCBI]
|
1.67317e-05
|
|
|
PEX12
|
[NCBI]
|
1.67317e-05
|
|
|
LARGE
|
[NCBI]
|
1.67317e-05
|
|
|
WNT7A
|
[NCBI]
|
1.67317e-05
|
|
|
EYA4
|
[NCBI]
|
1.67317e-05
|
|
|
ALMS1
|
[NCBI]
|
1.67317e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
1.67317e-05
|
|
|
TACSTD2
|
[NCBI]
|
1.67317e-05
|
|
|
GBE1
|
[NCBI]
|
1.67317e-05
|
|
|
CD3E
|
[NCBI]
|
1.67317e-05
|
|
|
LMAN1
|
[NCBI]
|
1.67317e-05
|
|
|
IGHM
|
[NCBI]
|
1.61499e-05
|
|
|
LAMA3
|
[NCBI]
|
1.61499e-05
|
|
|
AMN
|
[NCBI]
|
1.61499e-05
|
|
|
AAAS
|
[NCBI]
|
1.61499e-05
|
|
|
CCNB1
|
[NCBI]
|
1.61499e-05
|
|
|
PRKAA2
|
[NCBI]
|
1.61499e-05
|
|
|
CFD
|
[NCBI]
|
1.61499e-05
|
|
|
NR2E3
|
[NCBI]
|
1.61499e-05
|
|
|
HESX1
|
[NCBI]
|
1.61499e-05
|
|
|
LIM2
|
[NCBI]
|
1.61499e-05
|
|
|
CSPG2
|
[NCBI]
|
1.61499e-05
|
|
|
HADH
|
[NCBI]
|
1.61499e-05
|
|
|
CDA
|
[NCBI]
|
1.58495e-05
|
|
|
plasminogen deficiency, type i
|
[NCBI]
|
1.58495e-05
|
|
|
HHS
|
[NCBI]
|
1.58495e-05
|
|
|
myotonia congenita, autosomal recessive
|
[NCBI]
|
1.58495e-05
|
|
|
SMDP1
|
[NCBI]
|
1.58495e-05
|
|
|
IHPS1
|
[NCBI]
|
1.58495e-05
|
|
|
PMDS
|
[NCBI]
|
1.58495e-05
|
|
|
CLN5
|
[NCBI]
|
1.58495e-05
|
|
|
PLG
|
[NCBI]
|
1.56312e-05
|
|
|
EIF2AK3
|
[NCBI]
|
1.56224e-05
|
|
|
ARG1
|
[NCBI]
|
1.56224e-05
|
|
|
MLC1
|
[NCBI]
|
1.56224e-05
|
|
|
GNPAT
|
[NCBI]
|
1.56224e-05
|
|
|
DGUOK
|
[NCBI]
|
1.56224e-05
|
|
|
CCNA2
|
[NCBI]
|
1.56224e-05
|
|
|
POLB
|
[NCBI]
|
1.56224e-05
|
|
|
HPS1
|
[NCBI]
|
1.56224e-05
|
|
|
IL12RB1
|
[NCBI]
|
1.56224e-05
|
|
|
plasmin inhibitor deficiency
|
[NCBI]
|
1.51402e-05
|
|
|
CLCN7
|
[NCBI]
|
1.51402e-05
|
|
|
ATP2A1
|
[NCBI]
|
1.51402e-05
|
|
|
OTX2
|
[NCBI]
|
1.51402e-05
|
|
|
CDC25A
|
[NCBI]
|
1.51402e-05
|
|
|
COL6A3
|
[NCBI]
|
1.51402e-05
|
|
|
RPGRIP1
|
[NCBI]
|
1.51402e-05
|
|
|
HSAN3
|
[NCBI]
|
1.49519e-05
|
|
|
CPT1A
|
[NCBI]
|
1.46963e-05
|
|
|
TCIRG1
|
[NCBI]
|
1.46963e-05
|
|
|
EIF2B5
|
[NCBI]
|
1.46963e-05
|
|
|
CEP290
|
[NCBI]
|
1.46963e-05
|
|
|
C5R1
|
[NCBI]
|
1.46963e-05
|
|
|
NCF2
|
[NCBI]
|
1.46963e-05
|
|
|
LDLRAP1
|
[NCBI]
|
1.46963e-05
|
|
|
PVRL1
|
[NCBI]
|
1.46963e-05
|
|
|
HLCS
|
[NCBI]
|
1.46963e-05
|
|
|
SDHC
|
[NCBI]
|
1.46963e-05
|
|
|
prekallikrein deficiency
|
[NCBI]
|
1.46963e-05
|
|
|
KCNJ1
|
[NCBI]
|
1.46963e-05
|
|
|
GH1
|
[NCBI]
|
1.46442e-05
|
|
|
LMNA
|
[NCBI]
|
1.45422e-05
|
|
|
NM
|
[NCBI]
|
1.45346e-05
|
|
|
galactose epimerase deficiency
|
[NCBI]
|
1.45346e-05
|
|
|
bartter syndrome, antenatal, type 2
|
[NCBI]
|
1.45346e-05
|
|
|
erythrocytosis, familial, 1
|
[NCBI]
|
1.45346e-05
|
|
|
monilethrix
|
[NCBI]
|
1.45346e-05
|
|
|
CMT2A1
|
[NCBI]
|
1.45346e-05
|
|
|
amyloidosis v
|
[NCBI]
|
1.45346e-05
|
|
|
septooptic dysplasia
|
[NCBI]
|
1.45346e-05
|
|
|
AEZ
|
[NCBI]
|
1.45346e-05
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
1.45346e-05
|
|
|
DNAH11
|
[NCBI]
|
1.42851e-05
|
|
|
PLA2G7
|
[NCBI]
|
1.42851e-05
|
|
|
HSPD1
|
[NCBI]
|
1.42851e-05
|
|
|
RHAG
|
[NCBI]
|
1.42851e-05
|
|
|
SLC5A1
|
[NCBI]
|
1.42851e-05
|
|
|
PRX
|
[NCBI]
|
1.42851e-05
|
|
|
CLDN1
|
[NCBI]
|
1.42851e-05
|
|
|
FOXE1
|
[NCBI]
|
1.42851e-05
|
|
|
BTD
|
[NCBI]
|
1.42851e-05
|
|
|
AP3B1
|
[NCBI]
|
1.39023e-05
|
|
|
GDAP1
|
[NCBI]
|
1.39023e-05
|
|
|
SPG3A
|
[NCBI]
|
1.39023e-05
|
|
|
INVS
|
[NCBI]
|
1.39023e-05
|
|
|
CTNS
|
[NCBI]
|
1.39023e-05
|
|
|
ABL
|
[NCBI]
|
1.3756e-05
|
|
|
CRH
|
[NCBI]
|
1.36875e-05
|
|
|
AMY2A
|
[NCBI]
|
1.35444e-05
|
|
|
CDC25C
|
[NCBI]
|
1.35444e-05
|
|
|
SGCA
|
[NCBI]
|
1.35444e-05
|
|
|
NPHS1
|
[NCBI]
|
1.35444e-05
|
|
|
RCC1
|
[NCBI]
|
1.35444e-05
|
|
|
DRPLA
|
[NCBI]
|
1.34845e-05
|
|
|
wilson disease
|
[NCBI]
|
1.34183e-05
|
|
|
mitochondrial dna depletion syndrome, hepatocerebral form
|
[NCBI]
|
1.33485e-05
|
|
|
AGS1
|
[NCBI]
|
1.33485e-05
|
|
|
sitosterolemia
|
[NCBI]
|
1.33485e-05
|
|
|
JLNS1
|
[NCBI]
|
1.33485e-05
|
|
|
USH1C
|
[NCBI]
|
1.33485e-05
|
|
|
WGN1
|
[NCBI]
|
1.33485e-05
|
|
|
tetralogy of fallot
|
[NCBI]
|
1.33485e-05
|
|
|
ACHM2
|
[NCBI]
|
1.33485e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
1.33485e-05
|
|
|
SLC45A2
|
[NCBI]
|
1.32084e-05
|
|
|
CRX
|
[NCBI]
|
1.32084e-05
|
|
|
MYO6
|
[NCBI]
|
1.32084e-05
|
|
|
ROR2
|
[NCBI]
|
1.32084e-05
|
|
|
IL7R
|
[NCBI]
|
1.32084e-05
|
|
|
PCD
|
[NCBI]
|
1.29445e-05
|
|
|
SURF1
|
[NCBI]
|
1.28919e-05
|
|
|
NEFL
|
[NCBI]
|
1.28919e-05
|
|
|
ADSL
|
[NCBI]
|
1.28919e-05
|
|
|
ITGB4
|
[NCBI]
|
1.28919e-05
|
|
|
C5
|
[NCBI]
|
1.28919e-05
|
|
|
HSD17B4
|
[NCBI]
|
1.28919e-05
|
|
|
CD40
|
[NCBI]
|
1.28919e-05
|
|
|
SPG7
|
[NCBI]
|
1.28919e-05
|
|
|
PTS
|
[NCBI]
|
1.28919e-05
|
|
|
GLDC
|
[NCBI]
|
1.28919e-05
|
|
|
USH1C
|
[NCBI]
|
1.28919e-05
|
|
|
TSHB
|
[NCBI]
|
1.28919e-05
|
|
|
SCA6
|
[NCBI]
|
1.26469e-05
|
|
|
G6PT1
|
[NCBI]
|
1.25927e-05
|
|
|
FLT4
|
[NCBI]
|
1.25927e-05
|
|
|
PCCB
|
[NCBI]
|
1.25927e-05
|
|
|
ESD
|
[NCBI]
|
1.23098e-05
|
|
|
NEU1
|
[NCBI]
|
1.23093e-05
|
|
|
WNK1
|
[NCBI]
|
1.23093e-05
|
|
|
CA2
|
[NCBI]
|
1.23093e-05
|
|
|
SFTPB
|
[NCBI]
|
1.23093e-05
|
|
|
DBT
|
[NCBI]
|
1.23093e-05
|
|
|
vitamin d-dependent rickets, type i
|
[NCBI]
|
1.22728e-05
|
|
|
BHC
|
[NCBI]
|
1.22728e-05
|
|
|
hypophosphatasia, adult type
|
[NCBI]
|
1.22728e-05
|
|
|
tibial muscular dystrophy, tardive
|
[NCBI]
|
1.22728e-05
|
|
|
gilbert syndrome
|
[NCBI]
|
1.22728e-05
|
|
|
waardenburg-shah syndrome
|
[NCBI]
|
1.22728e-05
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
1.22728e-05
|
|
|
omenn syndrome
|
[NCBI]
|
1.22728e-05
|
|
|
ichthyosis congenita, harlequin fetus type
|
[NCBI]
|
1.22728e-05
|
|
|
CHNG1
|
[NCBI]
|
1.22728e-05
|
|
|
LGMD2B
|
[NCBI]
|
1.22728e-05
|
|
|
AT
|
[NCBI]
|
1.22567e-05
|
|
|
CMT1B
|
[NCBI]
|
1.21225e-05
|
|
|
CUBN
|
[NCBI]
|
1.204e-05
|
|
|
HR
|
[NCBI]
|
1.204e-05
|
|
|
GJB6
|
[NCBI]
|
1.204e-05
|
|
|
PEX7
|
[NCBI]
|
1.204e-05
|
|
|
PYGM
|
[NCBI]
|
1.204e-05
|
|
|
MFS
|
[NCBI]
|
1.18607e-05
|
|
|
SLC5A5
|
[NCBI]
|
1.17837e-05
|
|
|
GHRHR
|
[NCBI]
|
1.17837e-05
|
|
|
F12
|
[NCBI]
|
1.17837e-05
|
|
|
MC2R
|
[NCBI]
|
1.17837e-05
|
|
|
GPI
|
[NCBI]
|
1.16997e-05
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
1.16171e-05
|
|
|
VAMP2
|
[NCBI]
|
1.15391e-05
|
|
|
SDHD
|
[NCBI]
|
1.15391e-05
|
|
|
APTX
|
[NCBI]
|
1.15391e-05
|
|
|
RPE65
|
[NCBI]
|
1.15391e-05
|
|
|
LTC4S
|
[NCBI]
|
1.15391e-05
|
|
|
MRE11A
|
[NCBI]
|
1.15391e-05
|
|
|
UROS
|
[NCBI]
|
1.13052e-05
|
|
|
TGFBI
|
[NCBI]
|
1.13052e-05
|
|
|
PINK1
|
[NCBI]
|
1.13052e-05
|
|
|
hartnup disorder
|
[NCBI]
|
1.12927e-05
|
|
|
PFIC1
|
[NCBI]
|
1.12927e-05
|
|
|
severe combined immunodeficiency with sensitivity to ionizing radiation
|
[NCBI]
|
1.12927e-05
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
1.12927e-05
|
|
|
hurler-scheie syndrome
|
[NCBI]
|
1.12927e-05
|
|
|
PARK6
|
[NCBI]
|
1.12927e-05
|
|
|
CMDD
|
[NCBI]
|
1.12927e-05
|
|
|
NBIA1
|
[NCBI]
|
1.12927e-05
|
|
|
pseudoxanthoma elasticum, forme fruste
|
[NCBI]
|
1.12927e-05
|
|
|
AFD1
|
[NCBI]
|
1.12927e-05
|
|
|
VED
|
[NCBI]
|
1.12927e-05
|
|
|
CSID
|
[NCBI]
|
1.12927e-05
|
|
|
HHT
|
[NCBI]
|
1.11298e-05
|
|
|
HK1
|
[NCBI]
|
1.10813e-05
|
|
|
TGM1
|
[NCBI]
|
1.10813e-05
|
|
|
SLC12A3
|
[NCBI]
|
1.10813e-05
|
|
|
SLC3A1
|
[NCBI]
|
1.10813e-05
|
|
|
EXT1
|
[NCBI]
|
1.08666e-05
|
|
|
pta deficiency
|
[NCBI]
|
1.08666e-05
|
|
|
STAT1
|
[NCBI]
|
1.07989e-05
|
|
|
SLC17A7
|
[NCBI]
|
1.0462e-05
|
|
|
CD8A
|
[NCBI]
|
1.0462e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
1.0462e-05
|
|
|
hyperlipoproteinemia, type i
|
[NCBI]
|
1.03963e-05
|
|
|
refsum disease
|
[NCBI]
|
1.03963e-05
|
|
|
DYT3
|
[NCBI]
|
1.03963e-05
|
|
|
CORD2
|
[NCBI]
|
1.03963e-05
|
|
|
diarrhea 1, secretory chloride, congenital
|
[NCBI]
|
1.03963e-05
|
|
|
blood group, p system
|
[NCBI]
|
1.03963e-05
|
|
|
thyroid hormonogenesis, genetic defect in, 2a
|
[NCBI]
|
1.03963e-05
|
|
|
neuropathy, congenital hypomyelinating
|
[NCBI]
|
1.03963e-05
|
|
|
SPG2
|
[NCBI]
|
1.03963e-05
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
1.03963e-05
|
|
|
MVA
|
[NCBI]
|
1.03963e-05
|
|
|
GACI
|
[NCBI]
|
1.03963e-05
|
|
|
ARSB
|
[NCBI]
|
1.0271e-05
|
|
|
KRT14
|
[NCBI]
|
1.0271e-05
|
|
|
CHAT
|
[NCBI]
|
1.02655e-05
|
|
|
PMD
|
[NCBI]
|
1.02599e-05
|
|
|
CASR
|
[NCBI]
|
9.98728e-06
|
|
|
KCNJ11
|
[NCBI]
|
9.90895e-06
|
|
|
CYP11B2
|
[NCBI]
|
9.90895e-06
|
|
|
ACADM
|
[NCBI]
|
9.81134e-06
|
|
|
AK1
|
[NCBI]
|
9.73715e-06
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
9.73715e-06
|
|
|
GLI3
|
[NCBI]
|
9.73715e-06
|
|
|
CAPN3
|
[NCBI]
|
9.73715e-06
|
|
|
ALDH3A2
|
[NCBI]
|
9.73715e-06
|
|
|
ALPL
|
[NCBI]
|
9.73715e-06
|
|
|
MEFV
|
[NCBI]
|
9.73715e-06
|
|
|
GCH1
|
[NCBI]
|
9.73715e-06
|
|
|
TPO
|
[NCBI]
|
9.60984e-06
|
|
|
BGS
|
[NCBI]
|
9.57371e-06
|
|
|
factor xii deficiency
|
[NCBI]
|
9.57371e-06
|
|
|
glycogen storage disease iv
|
[NCBI]
|
9.57371e-06
|
|
|
MNS
|
[NCBI]
|
9.57371e-06
|
|
|
FBS
|
[NCBI]
|
9.57371e-06
|
|
|
ABS
|
[NCBI]
|
9.57371e-06
|
|
|
SHEP2
|
[NCBI]
|
9.57371e-06
|
|
|
weaver syndrome
|
[NCBI]
|
9.57371e-06
|
|
|
COL10A1
|
[NCBI]
|
9.57099e-06
|
|
|
TERC
|
[NCBI]
|
9.57099e-06
|
|
|
MN
|
[NCBI]
|
9.57099e-06
|
|
|
DNMT3B
|
[NCBI]
|
9.41014e-06
|
|
|
SHFM3
|
[NCBI]
|
9.31002e-06
|
|
|
CDAN2
|
[NCBI]
|
9.31002e-06
|
|
|
GSN
|
[NCBI]
|
9.25428e-06
|
|
|
anemia, sideroblastic, x-linked
|
[NCBI]
|
9.25428e-06
|
|
|
complement component 2 deficiency
|
[NCBI]
|
9.25428e-06
|
|
|
FMO3
|
[NCBI]
|
9.25428e-06
|
|
|
MTTK
|
[NCBI]
|
9.25428e-06
|
|
|
SPG4
|
[NCBI]
|
9.25428e-06
|
|
|
TYRP1
|
[NCBI]
|
9.10315e-06
|
|
|
STAT5B
|
[NCBI]
|
9.10315e-06
|
|
|
GDXY
|
[NCBI]
|
9.10315e-06
|
|
|
ABCC6
|
[NCBI]
|
8.95648e-06
|
|
|
AVPR2
|
[NCBI]
|
8.95648e-06
|
|
|
coproporphyria
|
[NCBI]
|
8.95648e-06
|
|
|
CLN2
|
[NCBI]
|
8.81669e-06
|
|
|
VWM
|
[NCBI]
|
8.81669e-06
|
|
|
ESCS
|
[NCBI]
|
8.81669e-06
|
|
|
bethlem myopathy
|
[NCBI]
|
8.81669e-06
|
|
|
ACADS
|
[NCBI]
|
8.81405e-06
|
|
|
GK
|
[NCBI]
|
8.81405e-06
|
|
|
RS1
|
[NCBI]
|
8.67564e-06
|
|
|
RECQL2
|
[NCBI]
|
8.67564e-06
|
|
|
PDE6B
|
[NCBI]
|
8.67564e-06
|
|
|
F3
|
[NCBI]
|
8.55077e-06
|
|
|
NPC1
|
[NCBI]
|
8.54856e-06
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
8.54104e-06
|
|
|
ATP7B
|
[NCBI]
|
8.41007e-06
|
|
|
fucosidosis
|
[NCBI]
|
8.41007e-06
|
|
|
GAA
|
[NCBI]
|
8.28255e-06
|
|
|
HLA-DRA
|
[NCBI]
|
8.15833e-06
|
|
|
porphyria, congenital erythropoietic
|
[NCBI]
|
8.11834e-06
|
|
|
mucopolysaccharidosis type iiib
|
[NCBI]
|
8.11834e-06
|
|
|
EL1
|
[NCBI]
|
8.11834e-06
|
|
|
KTCN1
|
[NCBI]
|
8.11834e-06
|
|
|
MEN2B
|
[NCBI]
|
8.11834e-06
|
|
|
giant platelet syndrome
|
[NCBI]
|
8.09795e-06
|
|
|
HEXB
|
[NCBI]
|
8.03726e-06
|
|
|
LPA
|
[NCBI]
|
8.03726e-06
|
|
|
PXE
|
[NCBI]
|
7.93432e-06
|
|
|
tyrosinemia, type i
|
[NCBI]
|
7.804e-06
|
|
|
GSR
|
[NCBI]
|
7.804e-06
|
|
|
MTATP6
|
[NCBI]
|
7.69156e-06
|
|
|
RELN
|
[NCBI]
|
7.69156e-06
|
|
|
TNFRSF6
|
[NCBI]
|
7.58175e-06
|
|
|
L1CAM
|
[NCBI]
|
7.58175e-06
|
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
[NCBI]
|
7.58175e-06
|
|
|
CGL2
|
[NCBI]
|
7.47278e-06
|
|
|
EDMD2
|
[NCBI]
|
7.47278e-06
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
7.47278e-06
|
|
|
CCAL2
|
[NCBI]
|
7.47278e-06
|
|
|
RIEG1
|
[NCBI]
|
7.47278e-06
|
|
|
histidinemia
|
[NCBI]
|
7.47278e-06
|
|
|
HSAN1
|
[NCBI]
|
7.47278e-06
|
|
|
NP
|
[NCBI]
|
7.26712e-06
|
|
|
RP2
|
[NCBI]
|
7.26712e-06
|
|
|
TBG
|
[NCBI]
|
7.26712e-06
|
|
|
G6PD
|
[NCBI]
|
7.0749e-06
|
|
|
FH
|
[NCBI]
|
7.06875e-06
|
|
|
PSAP
|
[NCBI]
|
7.06875e-06
|
|
|
FLNA
|
[NCBI]
|
6.97272e-06
|
|
|
FXN
|
[NCBI]
|
6.97272e-06
|
|
|
faciogenital dysplasia
|
[NCBI]
|
6.87499e-06
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
6.87499e-06
|
|
|
ehlers-danlos syndrome, type i
|
[NCBI]
|
6.87499e-06
|
|
|
A2M
|
[NCBI]
|
6.69637e-06
|
|
|
F2
|
[NCBI]
|
6.60794e-06
|
|
|
aneurysm, intracranial berry, 1
|
[NCBI]
|
6.54146e-06
|
|
|
RPGR
|
[NCBI]
|
6.52125e-06
|
|
|
hypercholesterolemia, autosomal dominant
|
[NCBI]
|
6.34108e-06
|
|
|
FMF
|
[NCBI]
|
6.32789e-06
|
|
|
glycogen storage disease iii
|
[NCBI]
|
6.32062e-06
|
|
|
DRD
|
[NCBI]
|
6.32062e-06
|
|
|
USH2A
|
[NCBI]
|
6.32062e-06
|
|
|
diastrophic dysplasia
|
[NCBI]
|
6.32062e-06
|
|
|
ITGB3
|
[NCBI]
|
6.19076e-06
|
|
|
HGPS
|
[NCBI]
|
6.15953e-06
|
|
|
CHS
|
[NCBI]
|
6.11356e-06
|
|
|
MMP2
|
[NCBI]
|
6.11195e-06
|
|
|
UGT1A1
|
[NCBI]
|
6.03457e-06
|
|
|
JAK3
|
[NCBI]
|
5.95858e-06
|
|
|
CDC2
|
[NCBI]
|
5.81059e-06
|
|
|
CRMO
|
[NCBI]
|
5.80588e-06
|
|
|
biotinidase deficiency
|
[NCBI]
|
5.80588e-06
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
5.80588e-06
|
|
|
glycogen storage disease v
|
[NCBI]
|
5.80588e-06
|
|
|
EFE
|
[NCBI]
|
5.80588e-06
|
|
|
glycogen storage disease ib
|
[NCBI]
|
5.80588e-06
|
|
|
AQP2
|
[NCBI]
|
5.59803e-06
|
|
|
MC4R
|
[NCBI]
|
5.4622e-06
|
|
|
CFTR
|
[NCBI]
|
5.43264e-06
|
|
|
citrullinemia, classic
|
[NCBI]
|
5.32748e-06
|
|
|
ODDD
|
[NCBI]
|
5.32748e-06
|
|
|
central core disease of muscle
|
[NCBI]
|
5.32748e-06
|
|
|
ARSA
|
[NCBI]
|
5.26665e-06
|
|
|
FGA
|
[NCBI]
|
5.26665e-06
|
|
|
APOA1
|
[NCBI]
|
5.14141e-06
|
|
|
RYR1
|
[NCBI]
|
5.14141e-06
|
|
|
BMP2
|
[NCBI]
|
5.08025e-06
|
|
|
TSHR
|
[NCBI]
|
5.02004e-06
|
|
|
leber optic atrophy
|
[NCBI]
|
4.99437e-06
|
|
|
diabetes insipidus, nephrogenic, x-linked
|
[NCBI]
|
4.8825e-06
|
|
|
EV
|
[NCBI]
|
4.86548e-06
|
|
|
hypogonadotropic hypogonadism
|
[NCBI]
|
4.78524e-06
|
|
|
CMH
|
[NCBI]
|
4.64668e-06
|
|
|
ALS1
|
[NCBI]
|
4.53918e-06
|
|
|
RCDP1
|
[NCBI]
|
4.46837e-06
|
|
|
HLA-A
|
[NCBI]
|
4.41371e-06
|
|
|
BTK
|
[NCBI]
|
4.41371e-06
|
|
|
COL1A2
|
[NCBI]
|
4.36319e-06
|
|
|
JBTS1
|
[NCBI]
|
4.33418e-06
|
|
|
MPZ
|
[NCBI]
|
4.21576e-06
|
|
|
VHL
|
[NCBI]
|
4.00832e-06
|
|
|
ABCB11
|
[NCBI]
|
3.98292e-06
|
|
|
apert syndrome
|
[NCBI]
|
3.72377e-06
|
|
|
STGD1
|
[NCBI]
|
3.72377e-06
|
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i
|
[NCBI]
|
3.72377e-06
|
|
|
LDLR
|
[NCBI]
|
3.70363e-06
|
|
|
MYOC
|
[NCBI]
|
3.60005e-06
|
|
|
TG
|
[NCBI]
|
3.57936e-06
|
|
|
GJA1
|
[NCBI]
|
3.49915e-06
|
|
|
PC
|
[NCBI]
|
3.48171e-06
|
|
|
FBN1
|
[NCBI]
|
3.40518e-06
|
|
|
TNFSF11
|
[NCBI]
|
3.40518e-06
|
|
|
STL1
|
[NCBI]
|
3.38942e-06
|
|
|
ABCC8
|
[NCBI]
|
3.25751e-06
|
|
|
krabbe disease
|
[NCBI]
|
3.25637e-06
|
|
|
ATM
|
[NCBI]
|
3.11662e-06
|
|
|
FPLD2
|
[NCBI]
|
3.07812e-06
|
|
|
SLOS
|
[NCBI]
|
3.05539e-06
|
|
|
SMA1
|
[NCBI]
|
3.0531e-06
|
|
|
von willebrand disease
|
[NCBI]
|
2.8851e-06
|
|
|
WT1
|
[NCBI]
|
2.83183e-06
|
|
|
GDNF
|
[NCBI]
|
2.79599e-06
|
|
|
ADA
|
[NCBI]
|
2.79015e-06
|
|
|
cystinuria
|
[NCBI]
|
2.78838e-06
|
|
|
BRCA2
|
[NCBI]
|
2.671e-06
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
2.63209e-06
|
|
|
scleroderma, familial progressive
|
[NCBI]
|
2.63209e-06
|
|
|
OMP
|
[NCBI]
|
2.61277e-06
|
|
|
glycogen storage disease vii
|
[NCBI]
|
2.51885e-06
|
|
|
RHO
|
[NCBI]
|
2.50001e-06
|
|
|
VDR
|
[NCBI]
|
2.44779e-06
|
|
|
EVA
|
[NCBI]
|
2.26831e-06
|
|
|
CMD1A
|
[NCBI]
|
2.26831e-06
|
|
|
myoclonic dystonia
|
[NCBI]
|
2.26831e-06
|
|
|
SPG4
|
[NCBI]
|
2.26831e-06
|
|
|
LEP
|
[NCBI]
|
2.04715e-06
|
|
|
CLL
|
[NCBI]
|
2.03563e-06
|
|
|
campomelic dysplasia
|
[NCBI]
|
2.03563e-06
|
|
|
sandhoff disease
|
[NCBI]
|
2.03563e-06
|
|
|
HPS
|
[NCBI]
|
2.02211e-06
|
|
|
GNRH1
|
[NCBI]
|
1.85189e-06
|
|
|
SMA3
|
[NCBI]
|
1.81981e-06
|
|
|
AIS
|
[NCBI]
|
1.76633e-06
|
|
|
TF
|
[NCBI]
|
1.47939e-06
|
|
|
HFE
|
[NCBI]
|
1.45243e-06
|
|
|
aHUS
|
[NCBI]
|
1.43503e-06
|
|
|
PDS
|
[NCBI]
|
1.43503e-06
|
|
|
CTNS
|
[NCBI]
|
1.43503e-06
|
|
|
dubowitz syndrome
|
[NCBI]
|
1.38712e-06
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
1.33686e-06
|
|
|
PEDF
|
[NCBI]
|
1.32097e-06
|
|
|
TRPS2
|
[NCBI]
|
1.26443e-06
|
|
|
CGD
|
[NCBI]
|
1.26202e-06
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
1.26202e-06
|
|
|
ZS
|
[NCBI]
|
1.10253e-06
|
|
|
NS1
|
[NCBI]
|
1.06531e-06
|
|
|
RSTS
|
[NCBI]
|
9.63127e-07
|
|
|
IGER
|
[NCBI]
|
9.63127e-07
|
|
|
LPL
|
[NCBI]
|
9.10186e-07
|
|
|
BRCA1
|
[NCBI]
|
8.17002e-07
|
|
|
CDLS1
|
[NCBI]
|
7.47967e-07
|
|
|
RTS
|
[NCBI]
|
7.10774e-07
|
|
|
XPA
|
[NCBI]
|
7.10774e-07
|
|
|
AKR1B1
|
[NCBI]
|
6.63586e-07
|
|
|
SDS
|
[NCBI]
|
6.35211e-07
|
|
|
DYT1
|
[NCBI]
|
5.02863e-07
|
|
|
PSACH
|
[NCBI]
|
4.89922e-07
|
|
|
CPI
|
[NCBI]
|
4.74375e-07
|
|
|
CDK2
|
[NCBI]
|
4.68734e-07
|
|
|
GHR
|
[NCBI]
|
4.61265e-07
|
|
|
AMH
|
[NCBI]
|
4.53873e-07
|
|
|
SOD1
|
[NCBI]
|
4.4656e-07
|
|
|
thyroid carcinoma, papillary
|
[NCBI]
|
4.14332e-07
|
|
|
asthma, susceptibility to
|
[NCBI]
|
3.61251e-07
|
|
|
ALPS
|
[NCBI]
|
3.56476e-07
|
|
|
CSA
|
[NCBI]
|
3.35487e-07
|
|
|
glycogen storage disease ii
|
[NCBI]
|
3.03457e-07
|
|
|
BRRS
|
[NCBI]
|
2.65916e-07
|
|
|
ALB
|
[NCBI]
|
2.20466e-07
|
|
|
RTT
|
[NCBI]
|
1.80191e-07
|
|
|
STAR
|
[NCBI]
|
1.69251e-07
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
1.57854e-07
|
|
|
maple syrup urine disease
|
[NCBI]
|
1.53074e-07
|
|
|
AN2
|
[NCBI]
|
1.53074e-07
|
|
|
LCAT
|
[NCBI]
|
1.28555e-07
|
|
|
SHH
|
[NCBI]
|
1.25153e-07
|
|
|
WS1
|
[NCBI]
|
1.091e-07
|
|
|
porphyria variegata
|
[NCBI]
|
8.5416e-08
|
|
|
TD1
|
[NCBI]
|
8.5416e-08
|
|
|
HP
|
[NCBI]
|
4.03159e-08
|
|
|
CES
|
[NCBI]
|
3.41983e-08
|
|
|
APOB
|
[NCBI]
|
3.24967e-08
|
|
|
CHM
|
[NCBI]
|
2.31638e-08
|
|
|
hurler syndrome
|
[NCBI]
|
2.31638e-08
|
|
|
MAG
|
[NCBI]
|
2.22892e-08
|
|
|
HBB
|
[NCBI]
|
5.38507e-09
|
|
|
LQT1
|
[NCBI]
|
3.74315e-10
|
|