|
OMIM |
Link |
Information gain |
01 |
|
RA
|
[NCBI]
|
0.00735778
|
|
|
PCD
|
[NCBI]
|
0.00618073
|
|
|
SLE
|
[NCBI]
|
0.0049114
|
|
|
SRS
|
[NCBI]
|
0.00443449
|
|
|
FA
|
[NCBI]
|
0.00421434
|
|
|
porokeratosis of mibelli
|
[NCBI]
|
0.00352102
|
|
|
AUTS4
|
[NCBI]
|
0.00313683
|
|
|
CES
|
[NCBI]
|
0.00297897
|
|
|
lipomatosis, multiple
|
[NCBI]
|
0.00289774
|
|
|
SHFM1
|
[NCBI]
|
0.00282126
|
|
|
CF
|
[NCBI]
|
0.0026042
|
|
|
scheuermann disease
|
[NCBI]
|
0.00231509
|
|
|
AT
|
[NCBI]
|
0.00231073
|
|
|
FRNS
|
[NCBI]
|
0.002122949
|
|
|
myeloproliferative syndrome, transient
|
[NCBI]
|
0.002107054
|
|
|
microcephaly, autosomal dominant
|
[NCBI]
|
0.002059431
|
|
|
dilution, pigmentary
|
[NCBI]
|
0.002011905
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
0.001928599
|
|
|
PWS
|
[NCBI]
|
0.001920354
|
|
|
diabetes mellitus, transient neonatal, 1
|
[NCBI]
|
0.001810296
|
|
|
PKS
|
[NCBI]
|
0.001804415
|
|
|
DIH2
|
[NCBI]
|
0.001654354
|
|
|
HTC1
|
[NCBI]
|
0.001618828
|
|
|
acromial dimples
|
[NCBI]
|
0.00152389
|
|
|
SHFM3
|
[NCBI]
|
0.001475989
|
|
|
CMM
|
[NCBI]
|
0.001328908
|
|
|
peyronie disease
|
[NCBI]
|
0.001278626
|
|
|
BCR
|
[NCBI]
|
0.001247981
|
|
|
ETM2
|
[NCBI]
|
0.00117305
|
|
|
chromosome 10q deletion syndrome
|
[NCBI]
|
0.00117305
|
|
|
ameloonychohypohidrotic syndrome
|
[NCBI]
|
0.001152896
|
|
|
leg, absence deformity of, with congenital cataract
|
[NCBI]
|
0.001152896
|
|
|
mesomelic dwarfism of hypoplastic tibia and radius type
|
[NCBI]
|
0.001152896
|
|
|
coxa vara
|
[NCBI]
|
0.001152896
|
|
|
chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
|
[NCBI]
|
0.00105414
|
|
|
MCOPS6
|
[NCBI]
|
0.000975051
|
|
|
bulbar palsy, progressive, of childhood
|
[NCBI]
|
0.000940181
|
|
|
deafness, congenital, with vitiligo and achalasia
|
[NCBI]
|
0.000940181
|
|
|
EEC1
|
[NCBI]
|
0.000937696
|
|
|
RB1
|
[NCBI]
|
0.000936093
|
|
|
AS
|
[NCBI]
|
0.000934281
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
0.000922645
|
|
|
ehlers-danlos syndrome, type vib
|
[NCBI]
|
0.000913495
|
|
|
SMS
|
[NCBI]
|
0.000913398
|
|
|
BRCD1
|
[NCBI]
|
0.000912267
|
|
|
renal cell carcinoma, papillary, 3
|
[NCBI]
|
0.000912267
|
|
|
meningioma, familial
|
[NCBI]
|
0.000893711
|
|
|
CDLS1
|
[NCBI]
|
0.000857203
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000836361
|
|
|
MTACR1
|
[NCBI]
|
0.000816948
|
|
|
dyskeratosis, hereditary benign intraepithelial
|
[NCBI]
|
0.0007805
|
|
|
microtia with meatal atresia and conductive deafness
|
[NCBI]
|
0.000779937
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
0.000773323
|
|
|
fragile site 2q11
|
[NCBI]
|
0.000768593
|
|
|
thrombocythemia, essential
|
[NCBI]
|
0.000761899
|
|
|
ACC
|
[NCBI]
|
0.000717699
|
|
|
spinocerebellar ataxia 29
|
[NCBI]
|
0.000704334
|
|
|
hypercalciuria, absorptive, 1
|
[NCBI]
|
0.000682758
|
|
|
oslam syndrome
|
[NCBI]
|
0.000682758
|
|
|
AUTS8
|
[NCBI]
|
0.000682758
|
|
|
teeth, odd shapes of
|
[NCBI]
|
0.000682758
|
|
|
cleft palate-lateral synechia syndrome
|
[NCBI]
|
0.000682758
|
|
|
retinal cone dystrophy 2
|
[NCBI]
|
0.000682758
|
|
|
PCA
|
[NCBI]
|
0.000666832
|
|
|
BLM
|
[NCBI]
|
0.000661965
|
|
|
WRN
|
[NCBI]
|
0.000650644
|
|
|
corneal dystrophy, crystalline, of schnyder
|
[NCBI]
|
0.00063881
|
|
|
diaphragmatic hernia, congenital
|
[NCBI]
|
0.000620753
|
|
|
ZLS
|
[NCBI]
|
0.000613981
|
|
|
nablus mask-like facial syndrome
|
[NCBI]
|
0.000605736
|
|
|
amelogenesis imperfecta, hypoplastic type
|
[NCBI]
|
0.000605736
|
|
|
basilar impression, primary
|
[NCBI]
|
0.000605736
|
|
|
pterygium, antecubital
|
[NCBI]
|
0.000590449
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
0.000559097
|
|
|
nievergelt syndrome
|
[NCBI]
|
0.000557557
|
|
|
hernia, hiatus
|
[NCBI]
|
0.000557557
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.000554443
|
|
|
TNF
|
[NCBI]
|
0.000546747
|
|
|
AD
|
[NCBI]
|
0.000524182
|
|
|
thrombocytopenia, autosomal recessive
|
[NCBI]
|
0.000523077
|
|
|
WM1
|
[NCBI]
|
0.000522103
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
0.000518658
|
|
|
MDD
|
[NCBI]
|
0.0005185555
|
|
|
COFS1
|
[NCBI]
|
0.0005147
|
|
|
auditory neuropathy, x-linked, 1, with peripheral sensory neuropathy
|
[NCBI]
|
0.000513427
|
|
|
cerebellar atrophy with progressive microcephaly
|
[NCBI]
|
0.000513427
|
|
|
hip dysplasia, beukes type
|
[NCBI]
|
0.000513427
|
|
|
ATFB1
|
[NCBI]
|
0.000513427
|
|
|
PDR
|
[NCBI]
|
0.000513427
|
|
|
mutagen sensitivity
|
[NCBI]
|
0.000513427
|
|
|
laterality defects, autosomal dominant
|
[NCBI]
|
0.000513427
|
|
|
vitreoretinal degeneration, snowflake type
|
[NCBI]
|
0.000513427
|
|
|
split-hand/foot malformation with sensorineural hearing loss
|
[NCBI]
|
0.000513427
|
|
|
erythrokeratodermia variabilis 3
|
[NCBI]
|
0.000513427
|
|
|
NCR
|
[NCBI]
|
0.000513427
|
|
|
SCAR6
|
[NCBI]
|
0.000513427
|
|
|
alpha-thalassemia/mental retardation syndrome, deletion-type
|
[NCBI]
|
0.000504395
|
|
|
nondisjunction
|
[NCBI]
|
0.000504395
|
|
|
CMM2
|
[NCBI]
|
0.000503616
|
|
|
salivary gland adenoma, pleomorphic
|
[NCBI]
|
0.000491202
|
|
|
neuroblastoma
|
[NCBI]
|
0.00048385
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.000475701
|
|
|
mesothelioma, malignant
|
[NCBI]
|
0.000466598
|
|
|
indifference to pain, congenital, autosomal dominant
|
[NCBI]
|
0.000465248
|
|
|
cavitary optic disc anomalies
|
[NCBI]
|
0.000465248
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.000465248
|
|
|
CVD1
|
[NCBI]
|
0.000465248
|
|
|
anencephaly
|
[NCBI]
|
0.000460615
|
|
|
dermal ridges, patternless
|
[NCBI]
|
0.000456216
|
|
|
VEGF
|
[NCBI]
|
0.000441784
|
|
|
mental health wellness 1
|
[NCBI]
|
0.000437738
|
|
|
WHS
|
[NCBI]
|
0.00043213
|
|
|
FRA16A
|
[NCBI]
|
0.000409105
|
|
|
RIEG2
|
[NCBI]
|
0.000408037
|
|
|
AMMECR1
|
[NCBI]
|
0.000408037
|
|
|
horner syndrome, congenital
|
[NCBI]
|
0.000408037
|
|
|
ectopia lentis with ectopia of pupil
|
[NCBI]
|
0.000408037
|
|
|
thyroid carcinoma, hurthle cell
|
[NCBI]
|
0.000408037
|
|
|
oligosynaptic infertility
|
[NCBI]
|
0.000408037
|
|
|
AXPC1
|
[NCBI]
|
0.000408037
|
|
|
CORD5
|
[NCBI]
|
0.000408037
|
|
|
DSMA3
|
[NCBI]
|
0.000408037
|
|
|
autism, susceptibility to, 3
|
[NCBI]
|
0.000408037
|
|
|
noonan syndrome 2
|
[NCBI]
|
0.000408037
|
|
|
thyroid hormonogenesis, genetic defect in, 4
|
[NCBI]
|
0.000404357
|
|
|
CRS1
|
[NCBI]
|
0.000401031
|
|
|
down syndrome
|
[NCBI]
|
0.000399704
|
|
|
BWS
|
[NCBI]
|
0.000397196
|
|
|
monosomy 1p36 syndrome
|
[NCBI]
|
0.000395037
|
|
|
chromosome 5q deletion syndrome
|
[NCBI]
|
0.000393789
|
|
|
AOS
|
[NCBI]
|
0.000388714
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000384916
|
|
|
metatropic dwarfism
|
[NCBI]
|
0.000383278
|
|
|
IBGC1
|
[NCBI]
|
0.00037561
|
|
|
GSM1
|
[NCBI]
|
0.000373557
|
|
|
VDEGS
|
[NCBI]
|
0.000373557
|
|
|
eosinophilia, familial
|
[NCBI]
|
0.000373557
|
|
|
TK1
|
[NCBI]
|
0.000372171
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.0003659888
|
|
|
autism
|
[NCBI]
|
0.0003619754
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.000351533
|
|
|
aortic aneurysm, familial thoracic 1
|
[NCBI]
|
0.000351533
|
|
|
prognathism, mandibular
|
[NCBI]
|
0.000347146
|
|
|
nipples, supernumerary
|
[NCBI]
|
0.000347146
|
|
|
myelocerebellar disorder
|
[NCBI]
|
0.000337195
|
|
|
SDS
|
[NCBI]
|
0.000335714
|
|
|
SHFM5
|
[NCBI]
|
0.000333015
|
|
|
HTC2
|
[NCBI]
|
0.000333015
|
|
|
MN
|
[NCBI]
|
0.000329655
|
|
|
testicular tumors
|
[NCBI]
|
0.000327348
|
|
|
sclerotylosis
|
[NCBI]
|
0.000326067
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.000326067
|
|
|
AFP
|
[NCBI]
|
0.000320587
|
|
|
IDDM
|
[NCBI]
|
0.000318247
|
|
|
recombinant chromosome 8 syndrome
|
[NCBI]
|
0.000315246
|
|
|
CMT1A
|
[NCBI]
|
0.000312562
|
|
|
klippel-feil syndrome, autosomal dominant
|
[NCBI]
|
0.0003087778
|
|
|
endometriosis, susceptibility to, 1
|
[NCBI]
|
0.0003087778
|
|
|
JBTS2
|
[NCBI]
|
0.000306604
|
|
|
CTPP1
|
[NCBI]
|
0.000306604
|
|
|
CMD1B
|
[NCBI]
|
0.000306604
|
|
|
immunoglobulin m, level of
|
[NCBI]
|
0.000302292
|
|
|
microtia-anotia
|
[NCBI]
|
0.000302292
|
|
|
dysgnathia complex
|
[NCBI]
|
0.000302292
|
|
|
CNC2
|
[NCBI]
|
0.000302292
|
|
|
cayler cardiofacial syndrome
|
[NCBI]
|
0.000296469
|
|
|
GSR
|
[NCBI]
|
0.000294536
|
|
|
AIC
|
[NCBI]
|
0.0002910742
|
|
|
intrauterine growth retardation with increased mitomycin c sensitivity
|
[NCBI]
|
0.000290561
|
|
|
mental retardation, fra12a type
|
[NCBI]
|
0.000287141
|
|
|
chromosome 18p deletion syndrome
|
[NCBI]
|
0.000287141
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal dominant
|
[NCBI]
|
0.000285525
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000285525
|
|
|
HMI
|
[NCBI]
|
0.000285356
|
|
|
RCC1
|
[NCBI]
|
0.000285038
|
|
|
hemangioma, capillary infantile
|
[NCBI]
|
0.000275881
|
|
|
EKD2
|
[NCBI]
|
0.000275881
|
|
|
GBY
|
[NCBI]
|
0.000275881
|
|
|
PGL2
|
[NCBI]
|
0.000275881
|
|
|
CARASIL
|
[NCBI]
|
0.0002715672
|
|
|
MLL
|
[NCBI]
|
0.000265495
|
|
|
BL
|
[NCBI]
|
0.000257741
|
|
|
AN1
|
[NCBI]
|
0.000257244
|
|
|
erythroleukemia, familial
|
[NCBI]
|
0.00025659
|
|
|
CHED1
|
[NCBI]
|
0.000254802
|
|
|
small cell cancer of the lung
|
[NCBI]
|
0.000254
|
|
|
ACP1
|
[NCBI]
|
0.0002529807
|
|
|
FANCB
|
[NCBI]
|
0.000247387
|
|
|
CGF1
|
[NCBI]
|
0.0002422583
|
|
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
0.0002415239
|
|
|
DAZ
|
[NCBI]
|
0.0002386554
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
0.0002375128
|
|
|
RBS
|
[NCBI]
|
0.000231511
|
|
|
DKC
|
[NCBI]
|
0.0002307733
|
|
|
PHP
|
[NCBI]
|
0.000230567
|
|
|
SHFM2
|
[NCBI]
|
0.000230567
|
|
|
VUR1
|
[NCBI]
|
0.0002277025
|
|
|
scleroderma, familial progressive
|
[NCBI]
|
0.000223998
|
|
|
immune defect due to absence of thymus
|
[NCBI]
|
0.000223057
|
|
|
folic acid, transport defect involving
|
[NCBI]
|
0.000223057
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.000223057
|
|
|
LALL
|
[NCBI]
|
0.000222017
|
|
|
DDU
|
[NCBI]
|
0.000222017
|
|
|
MDLS
|
[NCBI]
|
0.00022148
|
|
|
HMGA2
|
[NCBI]
|
0.0002192495
|
|
|
AVSD
|
[NCBI]
|
0.0002188786
|
|
|
DHFR
|
[NCBI]
|
0.0002176426
|
|
|
kabuki syndrome
|
[NCBI]
|
0.0002163705
|
|
|
AK1
|
[NCBI]
|
0.0002162313
|
|
|
BPES
|
[NCBI]
|
0.000214163
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
0.000213944
|
|
|
RCD1
|
[NCBI]
|
0.0002109433
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.0002108009
|
|
|
campomelic dysplasia
|
[NCBI]
|
0.0002105591
|
|
|
LDHB
|
[NCBI]
|
0.0002104116
|
|
|
persistent polyclonal b-cell lymphocytosis
|
[NCBI]
|
0.0002082909
|
|
|
RMS2
|
[NCBI]
|
0.000207599
|
|
|
DNMT3B
|
[NCBI]
|
0.0002074323
|
|
|
CD
|
[NCBI]
|
0.0002045164
|
|
|
RIEG1
|
[NCBI]
|
0.0002033952
|
|
|
TRPS2
|
[NCBI]
|
0.0002005241
|
|
|
SEMDJL
|
[NCBI]
|
0.0002003022
|
|
|
OFD4
|
[NCBI]
|
0.0002003022
|
|
|
HFM
|
[NCBI]
|
0.0001988423
|
|
|
acrodysostosis
|
[NCBI]
|
0.000198822
|
|
|
cluster headache, familial
|
[NCBI]
|
0.000198822
|
|
|
gonadal dysgenesis, xx type, with deafness
|
[NCBI]
|
0.000198822
|
|
|
spermatogenic failure, nonobstructive, y-linked
|
[NCBI]
|
0.0001932453
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
0.0001922025
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
0.0001922025
|
|
|
HPE5
|
[NCBI]
|
0.0001914039
|
|
|
fragile site 17p12
|
[NCBI]
|
0.0001914039
|
|
|
ependymoma, familial
|
[NCBI]
|
0.0001914039
|
|
|
anal atresia, hypospadias, and penoscrotal inversion
|
[NCBI]
|
0.0001914039
|
|
|
PTLS
|
[NCBI]
|
0.0001914039
|
|
|
PRL
|
[NCBI]
|
0.0001909491
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.0001889572
|
|
|
ACCPN
|
[NCBI]
|
0.0001880143
|
|
|
KLK3
|
[NCBI]
|
0.0001862044
|
|
|
MAFD1
|
[NCBI]
|
0.00018153948
|
|
|
monosomy 9p syndrome
|
[NCBI]
|
0.0001799374
|
|
|
pycnodysostosis
|
[NCBI]
|
0.0001768036
|
|
|
ABO
|
[NCBI]
|
0.0001764165
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
0.0001760672
|
|
|
MYB
|
[NCBI]
|
0.0001754686
|
|
|
duodenal atresia
|
[NCBI]
|
0.0001749673
|
|
|
CRC
|
[NCBI]
|
0.0001718938
|
|
|
WT1
|
[NCBI]
|
0.0001707703
|
|
|
TCPT
|
[NCBI]
|
0.000170597
|
|
|
iris coloboma with ptosis, hypertelorism, and mental retardation
|
[NCBI]
|
0.000170597
|
|
|
neutrophilic dermatosis, acute febrile
|
[NCBI]
|
0.0001705319
|
|
|
sick sinus syndrome, autosomal dominant
|
[NCBI]
|
0.0001692527
|
|
|
iminoglycinuria
|
[NCBI]
|
0.0001669422
|
|
|
FMF
|
[NCBI]
|
0.0001657867
|
|
|
LAMB3
|
[NCBI]
|
0.0001638492
|
|
|
witkop syndrome
|
[NCBI]
|
0.0001635008
|
|
|
hypertension with brachydactyly
|
[NCBI]
|
0.0001630233
|
|
|
PTH
|
[NCBI]
|
0.0001628939
|
|
|
PGD
|
[NCBI]
|
0.0001571007
|
|
|
short rib-polydactyly syndrome, type iii
|
[NCBI]
|
0.0001564435
|
|
|
MVP
|
[NCBI]
|
0.0001563966
|
|
|
MVA
|
[NCBI]
|
0.0001553016
|
|
|
THADA
|
[NCBI]
|
0.0001546916
|
|
|
PPS
|
[NCBI]
|
0.0001516846
|
|
|
TCRA
|
[NCBI]
|
0.0001511912
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
0.0001497806
|
|
|
HYPX
|
[NCBI]
|
0.0001495252
|
|
|
NGFB
|
[NCBI]
|
0.0001491972
|
|
|
ADCC
|
[NCBI]
|
0.0001490939
|
|
|
FY
|
[NCBI]
|
0.0001482267
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
0.0001478235
|
|
|
JBS
|
[NCBI]
|
0.0001461891
|
|
|
NBS1
|
[NCBI]
|
0.0001455603
|
|
|
hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
|
[NCBI]
|
0.0001453479
|
|
|
navicular bone, accessory
|
[NCBI]
|
0.0001452682
|
|
|
bowen syndrome of multiple malformations
|
[NCBI]
|
0.0001452682
|
|
|
brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay
|
[NCBI]
|
0.0001452682
|
|
|
IHG
|
[NCBI]
|
0.0001452682
|
|
|
aphalangy with hemivertebrae
|
[NCBI]
|
0.0001452682
|
|
|
spondyloepiphyseal dysplasia, myopia, and sensorineural deafness
|
[NCBI]
|
0.0001452682
|
|
|
pechet factor deficiency
|
[NCBI]
|
0.0001452682
|
|
|
dental noneruption
|
[NCBI]
|
0.0001452682
|
|
|
meningioma, radiation-induced
|
[NCBI]
|
0.0001452682
|
|
|
muscular hypertonia, lethal
|
[NCBI]
|
0.0001452682
|
|
|
nephropathy, progressive tubulointerstitial, with cholestatic liver disease
|
[NCBI]
|
0.0001452682
|
|
|
dermatoglyphics--hypothenar radial arch
|
[NCBI]
|
0.0001452682
|
|
|
hemophilia a with vascular abnormality
|
[NCBI]
|
0.0001452682
|
|
|
cranioacrofacial syndrome
|
[NCBI]
|
0.0001452682
|
|
|
craniosynostosis, philadelphia type
|
[NCBI]
|
0.0001452682
|
|
|
teeth, noneruption of, with maxillary hypoplasia and genu valgum
|
[NCBI]
|
0.0001452682
|
|
|
radiation sensitivity/chromosome instability syndrome, autosomal dominant
|
[NCBI]
|
0.0001452682
|
|
|
simosa craniofacial syndrome
|
[NCBI]
|
0.0001452682
|
|
|
neutrophilia, hereditary
|
[NCBI]
|
0.0001452682
|
|
|
macular dystrophy, fenestrated sheen type
|
[NCBI]
|
0.0001452682
|
|
|
cardiac septal defects with coarctation of the aorta
|
[NCBI]
|
0.0001452682
|
|
|
ulna and fibula, hypoplasia of
|
[NCBI]
|
0.0001452682
|
|
|
dwarfism, mental retardation, and eye abnormality
|
[NCBI]
|
0.0001452682
|
|
|
insensitivity to pain with hyperplastic myelinopathy
|
[NCBI]
|
0.0001452682
|
|
|
symphalangism with multiple anomalies of hands and feet
|
[NCBI]
|
0.0001452682
|
|
|
deafness, neural, congenital moderate
|
[NCBI]
|
0.0001452682
|
|
|
deafness, progressive, with stapes fixation
|
[NCBI]
|
0.0001452682
|
|
|
exostosis, dupuytren subungual
|
[NCBI]
|
0.0001452682
|
|
|
uruguay faciocardiomusculoskeletal syndrome
|
[NCBI]
|
0.0001452682
|
|
|
retinoschisis, autosomal dominant
|
[NCBI]
|
0.0001452682
|
|
|
incisors, shovel-shaped
|
[NCBI]
|
0.0001452682
|
|
|
STALE
|
[NCBI]
|
0.0001452682
|
|
|
charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined
|
[NCBI]
|
0.0001452682
|
|
|
RCC2
|
[NCBI]
|
0.0001452682
|
|
|
hyperparathyroidism, neonatal self-limited primary, with hypercalciuria
|
[NCBI]
|
0.0001452682
|
|
|
spondyloepiphyseal dysplasia with atlantoaxial instability
|
[NCBI]
|
0.0001452682
|
|
|
syndactyly with renal and anogenital malformations
|
[NCBI]
|
0.0001452682
|
|
|
BDE
|
[NCBI]
|
0.0001443197
|
|
|
EGF
|
[NCBI]
|
0.0001415117
|
|
|
IGHG1
|
[NCBI]
|
0.0001405503
|
|
|
cataract-microcornea syndrome
|
[NCBI]
|
0.0001373347
|
|
|
vacterl association with hydrocephalus
|
[NCBI]
|
0.0001373347
|
|
|
radioulnar synostosis
|
[NCBI]
|
0.0001373347
|
|
|
GDXY
|
[NCBI]
|
0.0001370125
|
|
|
BGS
|
[NCBI]
|
0.0001365505
|
|
|
restless legs syndrome, susceptibility to, 1
|
[NCBI]
|
0.0001360403
|
|
|
LCK
|
[NCBI]
|
0.0001354892
|
|
|
BCNS
|
[NCBI]
|
0.0001353327
|
|
|
SJS1
|
[NCBI]
|
0.0001352926
|
|
|
COH1
|
[NCBI]
|
0.0001351702
|
|
|
EDMD2
|
[NCBI]
|
0.0001335583
|
|
|
ODG2
|
[NCBI]
|
0.000131512
|
|
|
TRPS1
|
[NCBI]
|
0.0001315019
|
|
|
OFD1
|
[NCBI]
|
0.0001314919
|
|
|
FSHMD1A
|
[NCBI]
|
0.0001307448
|
|
|
floating-harbor syndrome
|
[NCBI]
|
0.0001296706
|
|
|
DGS
|
[NCBI]
|
0.0001296527
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
0.0001274205
|
|
|
vacterl association with hydrocephalus, x-linked
|
[NCBI]
|
0.0001274205
|
|
|
CEACAM5
|
[NCBI]
|
0.00012682298
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
0.0001239697
|
|
|
epidermolysis bullosa letalis
|
[NCBI]
|
0.0001238664
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
0.0001233401
|
|
|
metaphyseal chondrodysplasia, spahr type
|
[NCBI]
|
0.0001230596
|
|
|
pancreatic beta cell agenesis with neonatal diabetes mellitus
|
[NCBI]
|
0.0001230596
|
|
|
blepharonasofacial malformation syndrome
|
[NCBI]
|
0.0001230596
|
|
|
tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities
|
[NCBI]
|
0.0001230596
|
|
|
hydrocephalus, skeletal anomalies, and mental disturbance
|
[NCBI]
|
0.0001230596
|
|
|
revesz syndrome
|
[NCBI]
|
0.0001230596
|
|
|
NSX
|
[NCBI]
|
0.0001230596
|
|
|
edinburgh malformation syndrome
|
[NCBI]
|
0.0001230596
|
|
|
F12
|
[NCBI]
|
0.0001227123
|
|
|
ZNF331
|
[NCBI]
|
0.0001221487
|
|
|
MRE11A
|
[NCBI]
|
0.0001219229
|
|
|
PGK1
|
[NCBI]
|
0.000120328
|
|
|
PGM1
|
[NCBI]
|
0.0001198347
|
|
|
DCC
|
[NCBI]
|
0.0001184884
|
|
|
SCZD2
|
[NCBI]
|
0.0001183618
|
|
|
SHFLD1
|
[NCBI]
|
0.0001177081
|
|
|
MSX1
|
[NCBI]
|
0.0001171639
|
|
|
SIX6
|
[NCBI]
|
0.0001159691
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
0.0001157042
|
|
|
OTSC1
|
[NCBI]
|
0.000115411
|
|
|
arthrogryposis and ectodermal dysplasia
|
[NCBI]
|
0.0001148415
|
|
|
syringomas, multiple
|
[NCBI]
|
0.0001148415
|
|
|
fountain syndrome
|
[NCBI]
|
0.0001148415
|
|
|
aspermiogenesis factor
|
[NCBI]
|
0.0001145313
|
|
|
PCS
|
[NCBI]
|
0.0001145313
|
|
|
monosomy 7 of bone marrow
|
[NCBI]
|
0.0001145313
|
|
|
TH
|
[NCBI]
|
0.0001122845
|
|
|
hypouricemia, renal
|
[NCBI]
|
0.0001113665
|
|
|
spinocerebellar ataxia, 16q22-linked
|
[NCBI]
|
0.0001113665
|
|
|
hypoparathyroidism, sensorineural deafness, and renal disease
|
[NCBI]
|
0.0001113665
|
|
|
thyroid carcinoma, papillary
|
[NCBI]
|
0.0001109903
|
|
|
ASMD
|
[NCBI]
|
0.0001106977
|
|
|
RTS
|
[NCBI]
|
0.0001104579
|
|
|
GPC5
|
[NCBI]
|
0.0001101445
|
|
|
MEN2A
|
[NCBI]
|
0.0001101074
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
0.0001095972
|
|
|
epilepsy, reading
|
[NCBI]
|
0.0001095972
|
|
|
CHRNA7
|
[NCBI]
|
0.0001090125
|
|
|
CDB1
|
[NCBI]
|
0.0001085309
|
|
|
TTDN1
|
[NCBI]
|
0.0001083742
|
|
|
PEPC
|
[NCBI]
|
0.0001077774
|
|
|
IRID1
|
[NCBI]
|
0.0001075329
|
|
|
sotos syndrome
|
[NCBI]
|
0.0001074452
|
|
|
OFC1
|
[NCBI]
|
0.0001063971
|
|
|
PBT
|
[NCBI]
|
0.0001059667
|
|
|
GOT1
|
[NCBI]
|
0.0001047172
|
|
|
PEPA
|
[NCBI]
|
0.0001047172
|
|
|
ESD
|
[NCBI]
|
0.0001030098
|
|
|
AMY2A
|
[NCBI]
|
0.0001023123
|
|
|
LGMD1A
|
[NCBI]
|
0.0001021331
|
|
|
HGF
|
[NCBI]
|
0.0001020343
|
|
|
dna, satellite, alpha type
|
[NCBI]
|
0.0001014159
|
|
|
CMT4A
|
[NCBI]
|
0.0001012705
|
|
|
ORM1
|
[NCBI]
|
9.91897e-05
|
|
|
acheiropody
|
[NCBI]
|
9.87063e-05
|
|
|
ATM
|
[NCBI]
|
9.85419e-05
|
|
|
CD3G
|
[NCBI]
|
9.75045e-05
|
|
|
EKD1
|
[NCBI]
|
9.66343e-05
|
|
|
CVID
|
[NCBI]
|
9.64301e-05
|
|
|
HHS
|
[NCBI]
|
9.63696e-05
|
|
|
usher syndrome, type i
|
[NCBI]
|
9.62716e-05
|
|
|
heinz body anemias
|
[NCBI]
|
9.56898e-05
|
|
|
anal sphincter myopathy, internal
|
[NCBI]
|
9.56898e-05
|
|
|
cerebellar ataxia, deafness, and narcolepsy
|
[NCBI]
|
9.56898e-05
|
|
|
diabetes mellitus, transient neonatal, 2
|
[NCBI]
|
9.56898e-05
|
|
|
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease
|
[NCBI]
|
9.56898e-05
|
|
|
craniosynostosis-microcephaly with chromosomal breakage and other abnormalities
|
[NCBI]
|
9.56898e-05
|
|
|
thymic-renal-anal-lung dysplasia
|
[NCBI]
|
9.56898e-05
|
|
|
williams-beuren region duplication syndrome
|
[NCBI]
|
9.56898e-05
|
|
|
renal, genital, and middle ear anomalies
|
[NCBI]
|
9.56898e-05
|
|
|
HPE7
|
[NCBI]
|
9.56898e-05
|
|
|
hernia, anterior diaphragmatic
|
[NCBI]
|
9.56898e-05
|
|
|
DFNA44
|
[NCBI]
|
9.56898e-05
|
|
|
phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia
|
[NCBI]
|
9.56898e-05
|
|
|
radial-renal syndrome
|
[NCBI]
|
9.56898e-05
|
|
|
reticular dystrophy of retinal pigment epithelium
|
[NCBI]
|
9.56898e-05
|
|
|
CMT2K
|
[NCBI]
|
9.56898e-05
|
|
|
GVM
|
[NCBI]
|
9.56767e-05
|
|
|
G22P1
|
[NCBI]
|
9.53755e-05
|
|
|
ISS
|
[NCBI]
|
9.53689e-05
|
|
|
SHANK3
|
[NCBI]
|
9.51385e-05
|
|
|
SFD
|
[NCBI]
|
9.42264e-05
|
|
|
IKBKG
|
[NCBI]
|
9.4209e-05
|
|
|
VHL
|
[NCBI]
|
9.41578e-05
|
|
|
MYC
|
[NCBI]
|
9.41081e-05
|
|
|
AMY1A
|
[NCBI]
|
9.39228e-05
|
|
|
WAS
|
[NCBI]
|
9.34092e-05
|
|
|
indifference to pain, congenital, autosomal recessive
|
[NCBI]
|
9.32782e-05
|
|
|
disorganization, mouse, homolog of
|
[NCBI]
|
9.28047e-05
|
|
|
PML
|
[NCBI]
|
9.23335e-05
|
|
|
leiomyoma, hereditary multiple, of skin
|
[NCBI]
|
9.22499e-05
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
9.16282e-05
|
|
|
GRTH
|
[NCBI]
|
9.1135e-05
|
|
|
BDNF
|
[NCBI]
|
9.09493e-05
|
|
|
SOX9
|
[NCBI]
|
9.09371e-05
|
|
|
SKI
|
[NCBI]
|
9.08432e-05
|
|
|
PNDM
|
[NCBI]
|
9.0468e-05
|
|
|
wolff-parkinson-white syndrome
|
[NCBI]
|
8.91585e-05
|
|
|
MEG3
|
[NCBI]
|
8.87499e-05
|
|
|
PLAGL1
|
[NCBI]
|
8.82731e-05
|
|
|
MEST
|
[NCBI]
|
8.78187e-05
|
|
|
hydrops fetalis, idiopathic
|
[NCBI]
|
8.74717e-05
|
|
|
keratosis pilaris
|
[NCBI]
|
8.74717e-05
|
|
|
tetramelic monodactyly
|
[NCBI]
|
8.74717e-05
|
|
|
arthrogryposis multiplex congenita with whistling face
|
[NCBI]
|
8.74717e-05
|
|
|
lowry-maclean syndrome
|
[NCBI]
|
8.74717e-05
|
|
|
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
|
[NCBI]
|
8.74717e-05
|
|
|
spondyloepimetaphyseal dysplasia, type ii
|
[NCBI]
|
8.74717e-05
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
8.71842e-05
|
|
|
abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
|
[NCBI]
|
8.71233e-05
|
|
|
amyloidosis vi
|
[NCBI]
|
8.70324e-05
|
|
|
mitochondrial dna depletion syndrome, hepatocerebral form
|
[NCBI]
|
8.63483e-05
|
|
|
prostate cancer
|
[NCBI]
|
8.59241e-05
|
|
|
ACG1A
|
[NCBI]
|
8.56407e-05
|
|
|
THC2
|
[NCBI]
|
8.56231e-05
|
|
|
breasts and nipples, absence of
|
[NCBI]
|
8.56109e-05
|
|
|
SLSN1
|
[NCBI]
|
8.50944e-05
|
|
|
CLL
|
[NCBI]
|
8.49973e-05
|
|
|
IP
|
[NCBI]
|
8.47222e-05
|
|
|
SMA3
|
[NCBI]
|
8.36321e-05
|
|
|
ZNF141
|
[NCBI]
|
8.30061e-05
|
|
|
DSCR4
|
[NCBI]
|
8.30061e-05
|
|
|
MFHAS1
|
[NCBI]
|
8.30061e-05
|
|
|
C7ORF10
|
[NCBI]
|
8.30061e-05
|
|
|
CREBL2
|
[NCBI]
|
8.30061e-05
|
|
|
LMLN
|
[NCBI]
|
8.30061e-05
|
|
|
deleted in neuroblastoma 5
|
[NCBI]
|
8.30061e-05
|
|
|
CHCHD7
|
[NCBI]
|
8.30061e-05
|
|
|
CECR1
|
[NCBI]
|
8.30061e-05
|
|
|
CTAG1A
|
[NCBI]
|
8.30061e-05
|
|
|
ALK
|
[NCBI]
|
8.29302e-05
|
|
|
CDKN2B
|
[NCBI]
|
8.28336e-05
|
|
|
CADASIL
|
[NCBI]
|
8.27827e-05
|
|
|
CML
|
[NCBI]
|
8.21337e-05
|
|
|
CFTD
|
[NCBI]
|
8.19459e-05
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
8.19459e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
8.11407e-05
|
|
|
PLAG1
|
[NCBI]
|
8.08877e-05
|
|
|
PARP1
|
[NCBI]
|
8.07588e-05
|
|
|
FEB1
|
[NCBI]
|
8.07163e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
7.97308e-05
|
|
|
MOS
|
[NCBI]
|
7.92286e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
|
[NCBI]
|
7.86507e-05
|
|
|
knuckle pads, leukonychia, and sensorineural deafness
|
[NCBI]
|
7.83956e-05
|
|
|
seckel syndrome 1
|
[NCBI]
|
7.78769e-05
|
|
|
hydatidiform mole
|
[NCBI]
|
7.73953e-05
|
|
|
aneurysmal bone cysts
|
[NCBI]
|
7.73928e-05
|
|
|
male infertility with large-headed, multiflagellar, polyploid spermatozoa
|
[NCBI]
|
7.73928e-05
|
|
|
diaphragmatic hernia 3
|
[NCBI]
|
7.73928e-05
|
|
|
crisponi syndrome
|
[NCBI]
|
7.73928e-05
|
|
|
ventricular tachycardia, familial
|
[NCBI]
|
7.73928e-05
|
|
|
fundus dystrophy, pseudoinflammatory, recessive form
|
[NCBI]
|
7.73928e-05
|
|
|
microduplication 22q11.2
|
[NCBI]
|
7.73928e-05
|
|
|
muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
|
[NCBI]
|
7.73928e-05
|
|
|
retinitis pigmentosa, late-adult onset
|
[NCBI]
|
7.73928e-05
|
|
|
hypouricemia, familial renal, due to tubular hypersecretion
|
[NCBI]
|
7.73928e-05
|
|
|
mental retardation, x-linked, snyder-robinson type
|
[NCBI]
|
7.73928e-05
|
|
|
HLA-A
|
[NCBI]
|
7.72916e-05
|
|
|
danubian endemic familial nephropathy
|
[NCBI]
|
7.67653e-05
|
|
|
TECTA
|
[NCBI]
|
7.65225e-05
|
|
|
LPL
|
[NCBI]
|
7.62695e-05
|
|
|
TCL1A
|
[NCBI]
|
7.5853e-05
|
|
|
MTAP
|
[NCBI]
|
7.51322e-05
|
|
|
UGP1
|
[NCBI]
|
7.47817e-05
|
|
|
ZNF195
|
[NCBI]
|
7.47817e-05
|
|
|
MLF2
|
[NCBI]
|
7.47817e-05
|
|
|
RERE
|
[NCBI]
|
7.47817e-05
|
|
|
MYST1
|
[NCBI]
|
7.47817e-05
|
|
|
UBE2T
|
[NCBI]
|
7.47817e-05
|
|
|
APPL2
|
[NCBI]
|
7.47817e-05
|
|
|
MLLT6
|
[NCBI]
|
7.47817e-05
|
|
|
UPK2
|
[NCBI]
|
7.47817e-05
|
|
|
GABRG1
|
[NCBI]
|
7.47817e-05
|
|
|
JBS
|
[NCBI]
|
7.45878e-05
|
|
|
PTTG1
|
[NCBI]
|
7.42788e-05
|
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
|
[NCBI]
|
7.38619e-05
|
|
|
CMDD
|
[NCBI]
|
7.33945e-05
|
|
|
ichthyosiform erythroderma, corneal involvement, and deafness
|
[NCBI]
|
7.29452e-05
|
|
|
MBP
|
[NCBI]
|
7.2911e-05
|
|
|
diarrhea 1, secretory chloride, congenital
|
[NCBI]
|
7.26094e-05
|
|
|
CCNE1
|
[NCBI]
|
7.24129e-05
|
|
|
factor vii deficiency
|
[NCBI]
|
7.22111e-05
|
|
|
pierre robin syndrome
|
[NCBI]
|
7.21485e-05
|
|
|
gonadal dysgenesis, 46,xy, partial, with minifascicular neuropathy
|
[NCBI]
|
7.21485e-05
|
|
|
CADPS2
|
[NCBI]
|
7.1692e-05
|
|
|
UCK2
|
[NCBI]
|
7.1692e-05
|
|
|
KCNV1
|
[NCBI]
|
7.1692e-05
|
|
|
MAN2C1
|
[NCBI]
|
7.1692e-05
|
|
|
MYBL1
|
[NCBI]
|
7.1692e-05
|
|
|
ZWINT
|
[NCBI]
|
7.1692e-05
|
|
|
UPK1A
|
[NCBI]
|
7.1692e-05
|
|
|
GABRG3
|
[NCBI]
|
7.1692e-05
|
|
|
laurence-moon syndrome
|
[NCBI]
|
7.09892e-05
|
|
|
brachydactyly-ectrodactyly with fibular aplasia or hypoplasia
|
[NCBI]
|
7.09892e-05
|
|
|
AFD1
|
[NCBI]
|
7.083e-05
|
|
|
H2AFX
|
[NCBI]
|
7.06804e-05
|
|
|
TRIO
|
[NCBI]
|
6.96937e-05
|
|
|
FBXO4
|
[NCBI]
|
6.96937e-05
|
|
|
FBXW2
|
[NCBI]
|
6.96937e-05
|
|
|
orotic aciduria i
|
[NCBI]
|
6.88093e-05
|
|
|
polydactyly
|
[NCBI]
|
6.83167e-05
|
|
|
carcinoid tumors, intestinal
|
[NCBI]
|
6.83167e-05
|
|
|
ectrodactyly
|
[NCBI]
|
6.83167e-05
|
|
|
TCEA1
|
[NCBI]
|
6.82137e-05
|
|
|
ZW10
|
[NCBI]
|
6.82137e-05
|
|
|
TOP3B
|
[NCBI]
|
6.82137e-05
|
|
|
LAP3
|
[NCBI]
|
6.82137e-05
|
|
|
TCRB
|
[NCBI]
|
6.81984e-05
|
|
|
mental health wellness 2
|
[NCBI]
|
6.79688e-05
|
|
|
BCL2
|
[NCBI]
|
6.79166e-05
|
|
|
HPRT1
|
[NCBI]
|
6.79025e-05
|
|
|
ETS1
|
[NCBI]
|
6.78989e-05
|
|
|
XRCC9
|
[NCBI]
|
6.7531e-05
|
|
|
PMP22
|
[NCBI]
|
6.72892e-05
|
|
|
FBXO5
|
[NCBI]
|
6.7039e-05
|
|
|
calcineurin-binding protein 1
|
[NCBI]
|
6.7039e-05
|
|
|
FBXL3
|
[NCBI]
|
6.7039e-05
|
|
|
DWS
|
[NCBI]
|
6.69726e-05
|
|
|
XPA
|
[NCBI]
|
6.64452e-05
|
|
|
HD
|
[NCBI]
|
6.62758e-05
|
|
|
GC
|
[NCBI]
|
6.60434e-05
|
|
|
NR4A3
|
[NCBI]
|
6.58016e-05
|
|
|
trigonocephaly, nonsyndromic
|
[NCBI]
|
6.57449e-05
|
|
|
dermographism, familial
|
[NCBI]
|
6.57449e-05
|
|
|
thrombocytosis, benign familial microcytic
|
[NCBI]
|
6.57449e-05
|
|
|
retinitis pigmentosa-deafness syndrome
|
[NCBI]
|
6.57449e-05
|
|
|
gonadal agenesis
|
[NCBI]
|
6.57449e-05
|
|
|
leigh syndrome, x-linked
|
[NCBI]
|
6.57449e-05
|
|
|
nevo syndrome
|
[NCBI]
|
6.57449e-05
|
|
|
KTCN1
|
[NCBI]
|
6.55272e-05
|
|
|
pelvis-shoulder dysplasia
|
[NCBI]
|
6.53167e-05
|
|
|
LRPAP1
|
[NCBI]
|
6.52366e-05
|
|
|
FOS
|
[NCBI]
|
6.42072e-05
|
|
|
HNA
|
[NCBI]
|
6.35491e-05
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
6.28663e-05
|
|
|
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
|
[NCBI]
|
6.28663e-05
|
|
|
GOT2
|
[NCBI]
|
6.27841e-05
|
|
|
DISC1
|
[NCBI]
|
6.23487e-05
|
|
|
marden-walker syndrome
|
[NCBI]
|
6.22139e-05
|
|
|
platelet disorder, familial, with associated myeloid malignancy
|
[NCBI]
|
6.19131e-05
|
|
|
larynx, congenital partial atresia of
|
[NCBI]
|
6.19131e-05
|
|
|
corneal dystrophy and perceptive deafness
|
[NCBI]
|
6.19131e-05
|
|
|
osteomesopyknosis
|
[NCBI]
|
6.19131e-05
|
|
|
SCA15
|
[NCBI]
|
6.19131e-05
|
|
|
clubfoot
|
[NCBI]
|
6.19131e-05
|
|
|
pulmonic stenosis
|
[NCBI]
|
6.19131e-05
|
|
|
PAX3
|
[NCBI]
|
6.13366e-05
|
|
|
ZNF214
|
[NCBI]
|
6.10661e-05
|
|
|
ZNF154
|
[NCBI]
|
6.10661e-05
|
|
|
DISC2
|
[NCBI]
|
6.10661e-05
|
|
|
ZNF138
|
[NCBI]
|
6.10661e-05
|
|
|
ZNF134
|
[NCBI]
|
6.10661e-05
|
|
|
ZNF215
|
[NCBI]
|
6.10661e-05
|
|
|
ZNF131
|
[NCBI]
|
6.10661e-05
|
|
|
ZNF155
|
[NCBI]
|
6.10661e-05
|
|
|
ZNF135
|
[NCBI]
|
6.10661e-05
|
|
|
ZNF132
|
[NCBI]
|
6.10661e-05
|
|
|
ZNF137
|
[NCBI]
|
6.10661e-05
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
5.89131e-05
|
|
|
pseudohermaphroditism, incomplete male, type i
|
[NCBI]
|
5.89131e-05
|
|
|
oncocytoma
|
[NCBI]
|
5.89131e-05
|
|
|
MRD
|
[NCBI]
|
5.80585e-05
|
|
|
PTCH1
|
[NCBI]
|
5.80366e-05
|
|
|
ZNF136
|
[NCBI]
|
5.79764e-05
|
|
|
SAMSN1
|
[NCBI]
|
5.79764e-05
|
|
|
C20ORF41
|
[NCBI]
|
5.79764e-05
|
|
|
CDH18
|
[NCBI]
|
5.79764e-05
|
|
|
ZKSCAN1
|
[NCBI]
|
5.79764e-05
|
|
|
UPK3A
|
[NCBI]
|
5.79764e-05
|
|
|
ZNF142
|
[NCBI]
|
5.79764e-05
|
|
|
CTAG2
|
[NCBI]
|
5.79764e-05
|
|
|
vesicle amine transport protein 1
|
[NCBI]
|
5.79764e-05
|
|
|
APPL1
|
[NCBI]
|
5.79764e-05
|
|
|
RPL30
|
[NCBI]
|
5.79764e-05
|
|
|
polycythemia vera
|
[NCBI]
|
5.7639e-05
|
|
|
LIS2
|
[NCBI]
|
5.7457e-05
|
|
|
thyroxine-binding globulin of serum
|
[NCBI]
|
5.7457e-05
|
|
|
fragile site 10q25
|
[NCBI]
|
5.72551e-05
|
|
|
robinow-sorauf syndrome
|
[NCBI]
|
5.72551e-05
|
|
|
NEM1
|
[NCBI]
|
5.72551e-05
|
|
|
KRS
|
[NCBI]
|
5.72551e-05
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
5.72551e-05
|
|
|
POF2A
|
[NCBI]
|
5.72551e-05
|
|
|
paroxysmal extreme pain disorder
|
[NCBI]
|
5.72551e-05
|
|
|
seizures, benign familial neonatal-infantile
|
[NCBI]
|
5.72551e-05
|
|
|
ETM1
|
[NCBI]
|
5.59859e-05
|
|
|
RSPO1
|
[NCBI]
|
5.59781e-05
|
|
|
ZNF133
|
[NCBI]
|
5.59781e-05
|
|
|
WIF1
|
[NCBI]
|
5.59781e-05
|
|
|
ZNF140
|
[NCBI]
|
5.59781e-05
|
|
|
CCDC50
|
[NCBI]
|
5.59781e-05
|
|
|
BRCA1
|
[NCBI]
|
5.58454e-05
|
|
|
MTS
|
[NCBI]
|
5.5641e-05
|
|
|
galactosemia
|
[NCBI]
|
5.55222e-05
|
|
|
TERC
|
[NCBI]
|
5.53366e-05
|
|
|
AN2
|
[NCBI]
|
5.51971e-05
|
|
|
ZNF151
|
[NCBI]
|
5.44981e-05
|
|
|
CASP6
|
[NCBI]
|
5.44981e-05
|
|
|
PITX2
|
[NCBI]
|
5.44335e-05
|
|
|
pyogenic sterile arthritis, pyoderma gangrenosum, and acne
|
[NCBI]
|
5.42551e-05
|
|
|
anemia, microcytic
|
[NCBI]
|
5.42551e-05
|
|
|
MSS
|
[NCBI]
|
5.42141e-05
|
|
|
ST8
|
[NCBI]
|
5.40587e-05
|
|
|
ETV6
|
[NCBI]
|
5.33382e-05
|
|
|
FOXF2
|
[NCBI]
|
5.33234e-05
|
|
|
PITPNM1
|
[NCBI]
|
5.33234e-05
|
|
|
HNPP
|
[NCBI]
|
5.33211e-05
|
|
|
NPPA
|
[NCBI]
|
5.32768e-05
|
|
|
IDH3G
|
[NCBI]
|
5.284e-05
|
|
|
UFD1L
|
[NCBI]
|
5.284e-05
|
|
|
ZNF143
|
[NCBI]
|
5.23505e-05
|
|
|
TTDN1
|
[NCBI]
|
5.18047e-05
|
|
|
ebstein anomaly
|
[NCBI]
|
5.18047e-05
|
|
|
VHL
|
[NCBI]
|
5.1666e-05
|
|
|
RAD51L3
|
[NCBI]
|
5.1521e-05
|
|
|
YES1
|
[NCBI]
|
5.1521e-05
|
|
|
PFKP
|
[NCBI]
|
5.1521e-05
|
|
|
CRELD1
|
[NCBI]
|
5.08417e-05
|
|
|
IGHG3
|
[NCBI]
|
5.08417e-05
|
|
|
EIF5A2
|
[NCBI]
|
5.08417e-05
|
|
|
MUS81
|
[NCBI]
|
5.08417e-05
|
|
|
INSL4
|
[NCBI]
|
5.07986e-05
|
|
|
ED1
|
[NCBI]
|
5.07295e-05
|
|
|
neural tube defects, x-linked
|
[NCBI]
|
5.06252e-05
|
|
|
DFNB7
|
[NCBI]
|
5.06252e-05
|
|
|
HOMG2
|
[NCBI]
|
5.06252e-05
|
|
|
HPE4
|
[NCBI]
|
5.06252e-05
|
|
|
CNA2
|
[NCBI]
|
5.06252e-05
|
|
|
MRXSL
|
[NCBI]
|
5.06252e-05
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
5.06252e-05
|
|
|
SHFM4
|
[NCBI]
|
5.06252e-05
|
|
|
BDA2
|
[NCBI]
|
5.06252e-05
|
|
|
fumarase deficiency
|
[NCBI]
|
5.06252e-05
|
|
|
creatine phosphokinase, elevated serum
|
[NCBI]
|
5.06252e-05
|
|
|
ALMS
|
[NCBI]
|
5.00187e-05
|
|
|
MYBL2
|
[NCBI]
|
4.93617e-05
|
|
|
SSPN
|
[NCBI]
|
4.93617e-05
|
|
|
GDF6
|
[NCBI]
|
4.93617e-05
|
|
|
EDD1
|
[NCBI]
|
4.93617e-05
|
|
|
CSF2
|
[NCBI]
|
4.89269e-05
|
|
|
AIM1
|
[NCBI]
|
4.8187e-05
|
|
|
UPK1B
|
[NCBI]
|
4.8187e-05
|
|
|
nasopharyngeal carcinoma
|
[NCBI]
|
4.81748e-05
|
|
|
FHIT
|
[NCBI]
|
4.81343e-05
|
|
|
WS1
|
[NCBI]
|
4.80618e-05
|
|
|
ODG1
|
[NCBI]
|
4.79775e-05
|
|
|
porencephaly, familial
|
[NCBI]
|
4.79775e-05
|
|
|
TNFSF6
|
[NCBI]
|
4.78593e-05
|
|
|
POF1
|
[NCBI]
|
4.77414e-05
|
|
|
MLLT1
|
[NCBI]
|
4.75289e-05
|
|
|
MLLT3
|
[NCBI]
|
4.75289e-05
|
|
|
PRAME
|
[NCBI]
|
4.75289e-05
|
|
|
ASPSCR1
|
[NCBI]
|
4.75289e-05
|
|
|
CREB3L2
|
[NCBI]
|
4.75289e-05
|
|
|
RRAD
|
[NCBI]
|
4.75289e-05
|
|
|
NPS
|
[NCBI]
|
4.74875e-05
|
|
|
CHAC
|
[NCBI]
|
4.74789e-05
|
|
|
SCDO1
|
[NCBI]
|
4.74029e-05
|
|
|
PRSS12
|
[NCBI]
|
4.72141e-05
|
|
|
hepatocellular carcinoma
|
[NCBI]
|
4.64331e-05
|
|
|
MAX
|
[NCBI]
|
4.63846e-05
|
|
|
patterned dystrophy of retinal pigment epithelium
|
[NCBI]
|
4.61152e-05
|
|
|
AP1B1
|
[NCBI]
|
4.60489e-05
|
|
|
MCC
|
[NCBI]
|
4.60489e-05
|
|
|
rad54, s. cerevisiae, homolog of, b
|
[NCBI]
|
4.60489e-05
|
|
|
RPS20
|
[NCBI]
|
4.60489e-05
|
|
|
CNC1
|
[NCBI]
|
4.56752e-05
|
|
|
SUV39H1
|
[NCBI]
|
4.56622e-05
|
|
|
LIG1
|
[NCBI]
|
4.56622e-05
|
|
|
MECT1
|
[NCBI]
|
4.56622e-05
|
|
|
SOD1
|
[NCBI]
|
4.55989e-05
|
|
|
CREBBP
|
[NCBI]
|
4.55768e-05
|
|
|
myxoma, intracardiac
|
[NCBI]
|
4.55562e-05
|
|
|
amme complex
|
[NCBI]
|
4.52242e-05
|
|
|
XRN
|
[NCBI]
|
4.52242e-05
|
|
|
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
|
[NCBI]
|
4.52242e-05
|
|
|
HGPPS
|
[NCBI]
|
4.52242e-05
|
|
|
aplastic anemia
|
[NCBI]
|
4.52242e-05
|
|
|
congenital disorder of glycosylation, type i/iix
|
[NCBI]
|
4.52242e-05
|
|
|
WT5
|
[NCBI]
|
4.52242e-05
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
4.5077e-05
|
|
|
OXTR
|
[NCBI]
|
4.50231e-05
|
|
|
xanthinuria, type i
|
[NCBI]
|
4.47388e-05
|
|
|
SHOX
|
[NCBI]
|
4.46028e-05
|
|
|
PAX7
|
[NCBI]
|
4.44504e-05
|
|
|
POT1
|
[NCBI]
|
4.44504e-05
|
|
|
pyruvate dehydrogenase e3-binding protein deficiency
|
[NCBI]
|
4.43476e-05
|
|
|
HCA2
|
[NCBI]
|
4.43476e-05
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
4.43476e-05
|
|
|
GUSB
|
[NCBI]
|
4.43153e-05
|
|
|
MKS1
|
[NCBI]
|
4.41672e-05
|
|
|
GJB1
|
[NCBI]
|
4.4135e-05
|
|
|
FANCA
|
[NCBI]
|
4.39436e-05
|
|
|
ZNF148
|
[NCBI]
|
4.39321e-05
|
|
|
XRCC3
|
[NCBI]
|
4.39013e-05
|
|
|
BUB1
|
[NCBI]
|
4.39013e-05
|
|
|
FBXW4
|
[NCBI]
|
4.39013e-05
|
|
|
CSPG4
|
[NCBI]
|
4.39013e-05
|
|
|
FFS
|
[NCBI]
|
4.38654e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
4.38654e-05
|
|
|
RS1
|
[NCBI]
|
4.36577e-05
|
|
|
PCK2
|
[NCBI]
|
4.36023e-05
|
|
|
ZNF217
|
[NCBI]
|
4.36023e-05
|
|
|
PRDM16
|
[NCBI]
|
4.36023e-05
|
|
|
pancreatic cancer, susceptibility to, 1
|
[NCBI]
|
4.31646e-05
|
|
|
frontonasal dysplasia
|
[NCBI]
|
4.31646e-05
|
|
|
hypospadias, autosomal
|
[NCBI]
|
4.31646e-05
|
|
|
TD2
|
[NCBI]
|
4.31646e-05
|
|
|
CPVT
|
[NCBI]
|
4.31646e-05
|
|
|
RP1
|
[NCBI]
|
4.3102e-05
|
|
|
arbitrary restriction polymorphism 1
|
[NCBI]
|
4.31001e-05
|
|
|
CUL2
|
[NCBI]
|
4.30718e-05
|
|
|
HOS
|
[NCBI]
|
4.29369e-05
|
|
|
SANDO
|
[NCBI]
|
4.27565e-05
|
|
|
HP
|
[NCBI]
|
4.26893e-05
|
|
|
GFAP
|
[NCBI]
|
4.2651e-05
|
|
|
ACO1
|
[NCBI]
|
4.26222e-05
|
|
|
FANCM
|
[NCBI]
|
4.24276e-05
|
|
|
MLLT4
|
[NCBI]
|
4.23494e-05
|
|
|
ERV1
|
[NCBI]
|
4.23494e-05
|
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i
|
[NCBI]
|
4.23025e-05
|
|
|
NPM1
|
[NCBI]
|
4.20492e-05
|
|
|
MORF4
|
[NCBI]
|
4.17103e-05
|
|
|
MIRN15A
|
[NCBI]
|
4.14547e-05
|
|
|
NFKB2
|
[NCBI]
|
4.14547e-05
|
|
|
RUNX1
|
[NCBI]
|
4.14044e-05
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
4.1397e-05
|
|
|
AOII
|
[NCBI]
|
4.1397e-05
|
|
|
atrial septal defect with atrioventricular conduction defects
|
[NCBI]
|
4.1397e-05
|
|
|
acromesomelic dysplasia, hunter-thompson type
|
[NCBI]
|
4.1397e-05
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
4.08982e-05
|
|
|
CMT4B1
|
[NCBI]
|
4.06969e-05
|
|
|
PCNA
|
[NCBI]
|
4.066793e-05
|
|
|
TLX3
|
[NCBI]
|
4.06252e-05
|
|
|
PDXK
|
[NCBI]
|
4.06252e-05
|
|
|
XRCC5
|
[NCBI]
|
4.06193e-05
|
|
|
RNF139
|
[NCBI]
|
4.0491e-05
|
|
|
MLLT2
|
[NCBI]
|
4.0491e-05
|
|
|
F7R
|
[NCBI]
|
4.0491e-05
|
|
|
PHF9
|
[NCBI]
|
4.0491e-05
|
|
|
PSCA
|
[NCBI]
|
4.0302e-05
|
|
|
PITX1
|
[NCBI]
|
4.01462e-05
|
|
|
PDGFA
|
[NCBI]
|
3.99028e-05
|
|
|
LIMK1
|
[NCBI]
|
3.97114e-05
|
|
|
factor x deficiency
|
[NCBI]
|
3.92629e-05
|
|
|
EVR2
|
[NCBI]
|
3.89293e-05
|
|
|
AIH2
|
[NCBI]
|
3.89293e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3
|
[NCBI]
|
3.89293e-05
|
|
|
apert syndrome
|
[NCBI]
|
3.8773e-05
|
|
|
SCA1
|
[NCBI]
|
3.87368e-05
|
|
|
EBVS1
|
[NCBI]
|
3.85901e-05
|
|
|
polydactyly, postaxial, type a1
|
[NCBI]
|
3.85901e-05
|
|
|
RHO
|
[NCBI]
|
3.85322e-05
|
|
|
THY1
|
[NCBI]
|
3.82601e-05
|
|
|
FMN
|
[NCBI]
|
3.81727e-05
|
|
|
APOE
|
[NCBI]
|
3.807699e-05
|
|
|
MIRN16-1
|
[NCBI]
|
3.79662e-05
|
|
|
JK
|
[NCBI]
|
3.79526e-05
|
|
|
SGBS1
|
[NCBI]
|
3.79349e-05
|
|
|
FANCB
|
[NCBI]
|
3.79187e-05
|
|
|
chromosome 17q21.31 microdeletion syndrome
|
[NCBI]
|
3.79187e-05
|
|
|
MAD2L1
|
[NCBI]
|
3.76996e-05
|
|
|
BPP
|
[NCBI]
|
3.73885e-05
|
|
|
GLYS1
|
[NCBI]
|
3.73885e-05
|
|
|
MIRN155
|
[NCBI]
|
3.73271e-05
|
|
|
platelet glycoprotein iv deficiency
|
[NCBI]
|
3.72206e-05
|
|
|
CCDC6
|
[NCBI]
|
3.70892e-05
|
|
|
VLDLRCH
|
[NCBI]
|
3.68225e-05
|
|
|
OCA3
|
[NCBI]
|
3.68225e-05
|
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
|
[NCBI]
|
3.68225e-05
|
|
|
CMT4B2
|
[NCBI]
|
3.68225e-05
|
|
|
AML
|
[NCBI]
|
3.68225e-05
|
|
|
MXI1
|
[NCBI]
|
3.67544e-05
|
|
|
CDKN2A
|
[NCBI]
|
3.66159e-05
|
|
|
TUBB
|
[NCBI]
|
3.64891e-05
|
|
|
JARID1D
|
[NCBI]
|
3.64891e-05
|
|
|
TBCE
|
[NCBI]
|
3.63668e-05
|
|
|
CRLF1
|
[NCBI]
|
3.63668e-05
|
|
|
CTAG1B
|
[NCBI]
|
3.63668e-05
|
|
|
MLF1
|
[NCBI]
|
3.63668e-05
|
|
|
SMARCA4
|
[NCBI]
|
3.62361e-05
|
|
|
HRD
|
[NCBI]
|
3.60288e-05
|
|
|
KCS
|
[NCBI]
|
3.60288e-05
|
|
|
CHS
|
[NCBI]
|
3.59274e-05
|
|
|
BTRC
|
[NCBI]
|
3.58135e-05
|
|
|
F2
|
[NCBI]
|
3.57349e-05
|
|
|
FBXW7
|
[NCBI]
|
3.57277e-05
|
|
|
ZFPM2
|
[NCBI]
|
3.57277e-05
|
|
|
SYCP3
|
[NCBI]
|
3.57277e-05
|
|
|
TFG
|
[NCBI]
|
3.57277e-05
|
|
|
HIRA
|
[NCBI]
|
3.57277e-05
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
3.57012e-05
|
|
|
FTC
|
[NCBI]
|
3.52817e-05
|
|
|
HPP
|
[NCBI]
|
3.52817e-05
|
|
|
TERF2
|
[NCBI]
|
3.521605e-05
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
3.52125e-05
|
|
|
PC1
|
[NCBI]
|
3.52125e-05
|
|
|
ZMPSTE24
|
[NCBI]
|
3.5155e-05
|
|
|
CBFB
|
[NCBI]
|
3.5155e-05
|
|
|
EVI1
|
[NCBI]
|
3.50069e-05
|
|
|
BCL10
|
[NCBI]
|
3.50069e-05
|
|
|
ETV1
|
[NCBI]
|
3.50069e-05
|
|
|
ATLD
|
[NCBI]
|
3.4996e-05
|
|
|
SXI1
|
[NCBI]
|
3.4996e-05
|
|
|
WBS
|
[NCBI]
|
3.48783e-05
|
|
|
lipomatosis, familial benign cervical
|
[NCBI]
|
3.48172e-05
|
|
|
CCNA2
|
[NCBI]
|
3.46367e-05
|
|
|
MALT1
|
[NCBI]
|
3.43678e-05
|
|
|
INCENP
|
[NCBI]
|
3.432831e-05
|
|
|
PRKCA
|
[NCBI]
|
3.42037e-05
|
|
|
TXN
|
[NCBI]
|
3.42037e-05
|
|
|
osteogenic sarcoma
|
[NCBI]
|
3.3922e-05
|
|
|
ADHR
|
[NCBI]
|
3.3922e-05
|
|
|
FACL4
|
[NCBI]
|
3.37951e-05
|
|
|
BARD1
|
[NCBI]
|
3.37951e-05
|
|
|
BRCA2
|
[NCBI]
|
3.37408e-05
|
|
|
cystathioninuria
|
[NCBI]
|
3.37289e-05
|
|
|
hyperprolinemia, type i
|
[NCBI]
|
3.37289e-05
|
|
|
FANCE
|
[NCBI]
|
3.35068e-05
|
|
|
CMT4D
|
[NCBI]
|
3.34552e-05
|
|
|
LGMD2E
|
[NCBI]
|
3.34552e-05
|
|
|
CMT4C
|
[NCBI]
|
3.34552e-05
|
|
|
TBS
|
[NCBI]
|
3.34147e-05
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
3.33934e-05
|
|
|
NNAT
|
[NCBI]
|
3.32768e-05
|
|
|
PRKCE
|
[NCBI]
|
3.32768e-05
|
|
|
SPG3A
|
[NCBI]
|
3.32328e-05
|
|
|
BBS4
|
[NCBI]
|
3.3187e-05
|
|
|
MDC1
|
[NCBI]
|
3.3187e-05
|
|
|
ANP32A
|
[NCBI]
|
3.29531e-05
|
|
|
ID3
|
[NCBI]
|
3.28037e-05
|
|
|
CSE1L
|
[NCBI]
|
3.28037e-05
|
|
|
RDT
|
[NCBI]
|
3.27889e-05
|
|
|
hemojuvelin
|
[NCBI]
|
3.27844e-05
|
|
|
FIH
|
[NCBI]
|
3.26569e-05
|
|
|
TD1
|
[NCBI]
|
3.23352e-05
|
|
|
NF2
|
[NCBI]
|
3.22619e-05
|
|
|
SNCG
|
[NCBI]
|
3.21453e-05
|
|
|
epstein syndrome
|
[NCBI]
|
3.20955e-05
|
|
|
DA1
|
[NCBI]
|
3.20955e-05
|
|
|
SPG17
|
[NCBI]
|
3.20955e-05
|
|
|
ankyloblepharon-ectodermal defects-cleft lip/palate
|
[NCBI]
|
3.20955e-05
|
|
|
GPT
|
[NCBI]
|
3.20759e-05
|
|
|
LIS1
|
[NCBI]
|
3.19738e-05
|
|
|
ACY1
|
[NCBI]
|
3.197e-05
|
|
|
HS
|
[NCBI]
|
3.18616e-05
|
|
|
coloboma, ocular
|
[NCBI]
|
3.18526e-05
|
|
|
AIS
|
[NCBI]
|
3.1816e-05
|
|
|
SOX3
|
[NCBI]
|
3.16229e-05
|
|
|
FGD1
|
[NCBI]
|
3.15726e-05
|
|
|
CDK4
|
[NCBI]
|
3.13882e-05
|
|
|
XG
|
[NCBI]
|
3.11881e-05
|
|
|
BRIP1
|
[NCBI]
|
3.10543e-05
|
|
|
SVAS
|
[NCBI]
|
3.09432e-05
|
|
|
schwannomatosis
|
[NCBI]
|
3.08839e-05
|
|
|
SGCG
|
[NCBI]
|
3.06419e-05
|
|
|
SGCB
|
[NCBI]
|
3.06419e-05
|
|
|
HOXA13
|
[NCBI]
|
3.06419e-05
|
|
|
OPTA2
|
[NCBI]
|
3.0638e-05
|
|
|
ACG2
|
[NCBI]
|
3.0638e-05
|
|
|
ALDOA
|
[NCBI]
|
3.06101e-05
|
|
|
TFE3
|
[NCBI]
|
3.05812e-05
|
|
|
DBA
|
[NCBI]
|
3.05099e-05
|
|
|
IFD
|
[NCBI]
|
3.04929e-05
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
3.0433e-05
|
|
|
aging
|
[NCBI]
|
3.03076e-05
|
|
|
EBS2
|
[NCBI]
|
2.97956e-05
|
|
|
hydrocephalus
|
[NCBI]
|
2.97956e-05
|
|
|
BRIC1
|
[NCBI]
|
2.97956e-05
|
|
|
DNAH11
|
[NCBI]
|
2.97444e-05
|
|
|
caffey disease
|
[NCBI]
|
2.97432e-05
|
|
|
cutis laxa, autosomal dominant
|
[NCBI]
|
2.97432e-05
|
|
|
GABRG2
|
[NCBI]
|
2.97368e-05
|
|
|
PPR
|
[NCBI]
|
2.94809e-05
|
|
|
HBB
|
[NCBI]
|
2.93487e-05
|
|
|
wagr syndrome
|
[NCBI]
|
2.92813e-05
|
|
|
IRID2
|
[NCBI]
|
2.92813e-05
|
|
|
ehlers-danlos syndrome, type ii
|
[NCBI]
|
2.92813e-05
|
|
|
WS3
|
[NCBI]
|
2.92813e-05
|
|
|
FLI1
|
[NCBI]
|
2.92157e-05
|
|
|
SRA2
|
[NCBI]
|
2.92157e-05
|
|
|
BLMH
|
[NCBI]
|
2.92157e-05
|
|
|
SMA4
|
[NCBI]
|
2.90733e-05
|
|
|
MAOA
|
[NCBI]
|
2.864288e-05
|
|
|
LIG4
|
[NCBI]
|
2.844e-05
|
|
|
RAF1
|
[NCBI]
|
2.83876e-05
|
|
|
TP53
|
[NCBI]
|
2.8382e-05
|
|
|
CD82
|
[NCBI]
|
2.83759e-05
|
|
|
GINGF
|
[NCBI]
|
2.8193e-05
|
|
|
DMC
|
[NCBI]
|
2.81761e-05
|
|
|
MFS
|
[NCBI]
|
2.81509e-05
|
|
|
CSF1R
|
[NCBI]
|
2.809765e-05
|
|
|
SCZD9
|
[NCBI]
|
2.80272e-05
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
2.79167e-05
|
|
|
ADK
|
[NCBI]
|
2.791463e-05
|
|
|
myotonia congenita, autosomal recessive
|
[NCBI]
|
2.78617e-05
|
|
|
MTC
|
[NCBI]
|
2.78617e-05
|
|
|
PFC
|
[NCBI]
|
2.76002e-05
|
|
|
TCF3
|
[NCBI]
|
2.74569e-05
|
|
|
CYBA
|
[NCBI]
|
2.72514e-05
|
|
|
GABRB3
|
[NCBI]
|
2.72514e-05
|
|
|
CACNA1F
|
[NCBI]
|
2.72096e-05
|
|
|
SCA2
|
[NCBI]
|
2.71789e-05
|
|
|
renal tubular acidosis, distal, autosomal dominant
|
[NCBI]
|
2.70993e-05
|
|
|
MVP
|
[NCBI]
|
2.70931e-05
|
|
|
BCGF
|
[NCBI]
|
2.695406e-05
|
|
|
FANCD2
|
[NCBI]
|
2.69113e-05
|
|
|
THC1
|
[NCBI]
|
2.67734e-05
|
|
|
HOMG
|
[NCBI]
|
2.67734e-05
|
|
|
SNDI
|
[NCBI]
|
2.67734e-05
|
|
|
HLF
|
[NCBI]
|
2.66171e-05
|
|
|
IFNB1
|
[NCBI]
|
2.656516e-05
|
|
|
PRX
|
[NCBI]
|
2.65093e-05
|
|
|
IFNAR1
|
[NCBI]
|
2.638527e-05
|
|
|
CUTL1
|
[NCBI]
|
2.63384e-05
|
|
|
feingold syndrome
|
[NCBI]
|
2.63141e-05
|
|
|
SCZD
|
[NCBI]
|
2.629083e-05
|
|
|
RPS6
|
[NCBI]
|
2.623835e-05
|
|
|
apc gene
|
[NCBI]
|
2.60264e-05
|
|
|
SSX1
|
[NCBI]
|
2.58637e-05
|
|
|
HBZ
|
[NCBI]
|
2.58528e-05
|
|
|
CDA
|
[NCBI]
|
2.57893e-05
|
|
|
ALUNC
|
[NCBI]
|
2.57893e-05
|
|
|
mitochondrial dna depletion syndrome, myopathic form
|
[NCBI]
|
2.57893e-05
|
|
|
CDG1A
|
[NCBI]
|
2.57712e-05
|
|
|
kartagener syndrome
|
[NCBI]
|
2.570059e-05
|
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
[NCBI]
|
2.565961e-05
|
|
|
SCZD4
|
[NCBI]
|
2.56395e-05
|
|
|
KCNA1
|
[NCBI]
|
2.550476e-05
|
|
|
BOS1
|
[NCBI]
|
2.54967e-05
|
|
|
DGI1
|
[NCBI]
|
2.54967e-05
|
|
|
marshall syndrome
|
[NCBI]
|
2.54967e-05
|
|
|
GDAP1
|
[NCBI]
|
2.549e-05
|
|
|
ADA
|
[NCBI]
|
2.53975e-05
|
|
|
GATA3
|
[NCBI]
|
2.531e-05
|
|
|
RHCE
|
[NCBI]
|
2.527943e-05
|
|
|
LYST
|
[NCBI]
|
2.51412e-05
|
|
|
BEST1
|
[NCBI]
|
2.51412e-05
|
|
|
LDHA
|
[NCBI]
|
2.508532e-05
|
|
|
IHPS1
|
[NCBI]
|
2.48945e-05
|
|
|
melanoma, uveal
|
[NCBI]
|
2.4831e-05
|
|
|
musical perfect pitch
|
[NCBI]
|
2.479665e-05
|
|
|
APOH
|
[NCBI]
|
2.459276e-05
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
2.4522e-05
|
|
|
cri-du-chat syndrome
|
[NCBI]
|
2.43676e-05
|
|
|
LGMD1B
|
[NCBI]
|
2.43676e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
2.415612e-05
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
2.4083e-05
|
|
|
cirrhosis, familial
|
[NCBI]
|
2.405701e-05
|
|
|
IRF6
|
[NCBI]
|
2.39864e-05
|
|
|
DHH
|
[NCBI]
|
2.392163e-05
|
|
|
GLRA1
|
[NCBI]
|
2.39088e-05
|
|
|
ALD
|
[NCBI]
|
2.37951e-05
|
|
|
VMD
|
[NCBI]
|
2.37829e-05
|
|
|
PI
|
[NCBI]
|
2.36736e-05
|
|
|
NSD1
|
[NCBI]
|
2.36596e-05
|
|
|
OPD1
|
[NCBI]
|
2.36272e-05
|
|
|
MUC1
|
[NCBI]
|
2.353043e-05
|
|
|
EPO
|
[NCBI]
|
2.348907e-05
|
|
|
APRT
|
[NCBI]
|
2.343954e-05
|
|
|
PDGFRA
|
[NCBI]
|
2.343527e-05
|
|
|
ERCC6
|
[NCBI]
|
2.334454e-05
|
|
|
hyperlipoproteinemia, type ii
|
[NCBI]
|
2.33274e-05
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
2.33274e-05
|
|
|
NKX2-1
|
[NCBI]
|
2.31998e-05
|
|
|
SSTR2
|
[NCBI]
|
2.308441e-05
|
|
|
COL1A2
|
[NCBI]
|
2.29801e-05
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
2.297969e-05
|
|
|
argininemia
|
[NCBI]
|
2.290542e-05
|
|
|
FOXC1
|
[NCBI]
|
2.28322e-05
|
|
|
CDGG1
|
[NCBI]
|
2.28098e-05
|
|
|
erythrocytosis, familial, 1
|
[NCBI]
|
2.28098e-05
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
2.28098e-05
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
2.28098e-05
|
|
|
HBA1
|
[NCBI]
|
2.272336e-05
|
|
|
HPS
|
[NCBI]
|
2.260014e-05
|
|
|
WGN1
|
[NCBI]
|
2.24887e-05
|
|
|
GLDC
|
[NCBI]
|
2.23447e-05
|
|
|
PIK3CA
|
[NCBI]
|
2.228047e-05
|
|
|
TCRG
|
[NCBI]
|
2.211193e-05
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
2.20601e-05
|
|
|
FUS
|
[NCBI]
|
2.176057e-05
|
|
|
EA1
|
[NCBI]
|
2.16713e-05
|
|
|
PRODH
|
[NCBI]
|
2.164276e-05
|
|
|
FRAXE
|
[NCBI]
|
2.159635e-05
|
|
|
APOB
|
[NCBI]
|
2.147538e-05
|
|
|
HPE3
|
[NCBI]
|
2.14607e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
2.137011e-05
|
|
|
amyloidosis v
|
[NCBI]
|
2.137011e-05
|
|
|
FOXC2
|
[NCBI]
|
2.127307e-05
|
|
|
GSTP1
|
[NCBI]
|
2.121333e-05
|
|
|
hemophagocytic lymphohistiocytosis, familial, 1
|
[NCBI]
|
2.118909e-05
|
|
|
KITLG
|
[NCBI]
|
2.113263e-05
|
|
|
trichodentoosseous syndrome
|
[NCBI]
|
2.09216e-05
|
|
|
MPZ
|
[NCBI]
|
2.09201e-05
|
|
|
ACHE
|
[NCBI]
|
2.091476e-05
|
|
|
NRAS
|
[NCBI]
|
2.088006e-05
|
|
|
HSS
|
[NCBI]
|
2.086193e-05
|
|
|
DKC1
|
[NCBI]
|
2.081467e-05
|
|
|
NF1
|
[NCBI]
|
2.079018e-05
|
|
|
dent disease 1
|
[NCBI]
|
2.06433e-05
|
|
|
CYP1B1
|
[NCBI]
|
2.05792e-05
|
|
|
PFM
|
[NCBI]
|
2.052826e-05
|
|
|
PFHB1A
|
[NCBI]
|
2.045043e-05
|
|
|
THRA
|
[NCBI]
|
2.031179e-05
|
|
|
GP1BA
|
[NCBI]
|
2.013673e-05
|
|
|
DM2
|
[NCBI]
|
1.993932e-05
|
|
|
LS
|
[NCBI]
|
1.993492e-05
|
|
|
ATR
|
[NCBI]
|
1.97386e-05
|
|
|
pitt syndrome
|
[NCBI]
|
1.971086e-05
|
|
|
MDM2
|
[NCBI]
|
1.959028e-05
|
|
|
PLOD1
|
[NCBI]
|
1.958717e-05
|
|
|
PRKAR1A
|
[NCBI]
|
1.95478e-05
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
1.953037e-05
|
|
|
JMML
|
[NCBI]
|
1.948185e-05
|
|
|
CRYAB
|
[NCBI]
|
1.930495e-05
|
|
|
EYA1
|
[NCBI]
|
1.930495e-05
|
|
|
PPCD1
|
[NCBI]
|
1.920361e-05
|
|
|
MYCN
|
[NCBI]
|
1.91157e-05
|
|
|
CBX5
|
[NCBI]
|
1.9074337e-05
|
|
|
asplenia with cardiovascular anomalies
|
[NCBI]
|
1.900522e-05
|
|
|
pseudoxanthoma elasticum, forme fruste
|
[NCBI]
|
1.896116e-05
|
|
|
pituitary dwarfism i
|
[NCBI]
|
1.890454e-05
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
1.88621e-05
|
|
|
PAX2
|
[NCBI]
|
1.870666e-05
|
|
|
PMS2
|
[NCBI]
|
1.870666e-05
|
|
|
BHC
|
[NCBI]
|
1.856668e-05
|
|
|
LIF
|
[NCBI]
|
1.85605e-05
|
|
|
MYOC
|
[NCBI]
|
1.854355e-05
|
|
|
MET
|
[NCBI]
|
1.842739e-05
|
|
|
PMM2
|
[NCBI]
|
1.841055e-05
|
|
|
PINK1
|
[NCBI]
|
1.841055e-05
|
|
|
polycystic kidneys
|
[NCBI]
|
1.833887e-05
|
|
|
TPI1
|
[NCBI]
|
1.83203e-05
|
|
|
HSAN2
|
[NCBI]
|
1.827117e-05
|
|
|
C4B
|
[NCBI]
|
1.819483e-05
|
|
|
CHM
|
[NCBI]
|
1.814235e-05
|
|
|
HPC1
|
[NCBI]
|
1.81124e-05
|
|
|
EEC3
|
[NCBI]
|
1.81124e-05
|
|
|
C4A
|
[NCBI]
|
1.800009e-05
|
|
|
ALDH2
|
[NCBI]
|
1.799118e-05
|
|
|
PEPD
|
[NCBI]
|
1.797191e-05
|
|
|
TIMP3
|
[NCBI]
|
1.79531e-05
|
|
|
LPA
|
[NCBI]
|
1.772758e-05
|
|
|
DHRD
|
[NCBI]
|
1.742241e-05
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
1.731211e-05
|
|
|
TP73L
|
[NCBI]
|
1.724686e-05
|
|
|
MCDR1
|
[NCBI]
|
1.711854e-05
|
|
|
MAPK3
|
[NCBI]
|
1.709905e-05
|
|
|
SMPD1
|
[NCBI]
|
1.708927e-05
|
|
|
GATA1
|
[NCBI]
|
1.689698e-05
|
|
|
AGTR1
|
[NCBI]
|
1.689583e-05
|
|
|
factor xii deficiency
|
[NCBI]
|
1.664745e-05
|
|
|
XPC
|
[NCBI]
|
1.659687e-05
|
|
|
COL4A3
|
[NCBI]
|
1.654991e-05
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
1.650893e-05
|
|
|
ABCB1
|
[NCBI]
|
1.649401e-05
|
|
|
GHRL
|
[NCBI]
|
1.631804e-05
|
|
|
H19
|
[NCBI]
|
1.626871e-05
|
|
|
CMH
|
[NCBI]
|
1.624899e-05
|
|
|
FOXO1A
|
[NCBI]
|
1.604721e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
1.598995e-05
|
|
|
DFFB
|
[NCBI]
|
1.596773e-05
|
|
|
TBG
|
[NCBI]
|
1.572238e-05
|
|
|
COL17A1
|
[NCBI]
|
1.563466e-05
|
|
|
BBS
|
[NCBI]
|
1.558848e-05
|
|
|
SCA7
|
[NCBI]
|
1.537706e-05
|
|
|
EPHX1
|
[NCBI]
|
1.536488e-05
|
|
|
GPC3
|
[NCBI]
|
1.529093e-05
|
|
|
IFNG
|
[NCBI]
|
1.525551e-05
|
|
|
PKD1
|
[NCBI]
|
1.493399e-05
|
|
|
MTM1
|
[NCBI]
|
1.493378e-05
|
|
|
NOTCH1
|
[NCBI]
|
1.489381e-05
|
|
|
bladder cancer
|
[NCBI]
|
1.487432e-05
|
|
|
TS
|
[NCBI]
|
1.486494e-05
|
|
|
TG
|
[NCBI]
|
1.479157e-05
|
|
|
AIED
|
[NCBI]
|
1.471168e-05
|
|
|
GACI
|
[NCBI]
|
1.466822e-05
|
|
|
ASPS
|
[NCBI]
|
1.466459e-05
|
|
|
ehlers-danlos syndrome, type vi
|
[NCBI]
|
1.466459e-05
|
|
|
PDGFB
|
[NCBI]
|
1.465958e-05
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
1.462703e-05
|
|
|
MTTK
|
[NCBI]
|
1.417155e-05
|
|
|
EBN1
|
[NCBI]
|
1.416494e-05
|
|
|
CBAVD
|
[NCBI]
|
1.416494e-05
|
|
|
RP
|
[NCBI]
|
1.41364e-05
|
|
|
EWSR1
|
[NCBI]
|
1.408209e-05
|
|
|
EAOH
|
[NCBI]
|
1.389326e-05
|
|
|
GABEB
|
[NCBI]
|
1.389326e-05
|
|
|
BCL6
|
[NCBI]
|
1.389202e-05
|
|
|
PDE6B
|
[NCBI]
|
1.387504e-05
|
|
|
DNTT
|
[NCBI]
|
1.386359e-05
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
1.381583e-05
|
|
|
von willebrand disease
|
[NCBI]
|
1.369026e-05
|
|
|
fucosidosis
|
[NCBI]
|
1.362774e-05
|
|
|
lecithin:cholesterol acyltransferase deficiency
|
[NCBI]
|
1.358427e-05
|
|
|
masa syndrome
|
[NCBI]
|
1.351424e-05
|
|
|
HEPOD
|
[NCBI]
|
1.351424e-05
|
|
|
weaver syndrome
|
[NCBI]
|
1.345237e-05
|
|
|
RECQL2
|
[NCBI]
|
1.339325e-05
|
|
|
NR0B1
|
[NCBI]
|
1.326778e-05
|
|
|
RET
|
[NCBI]
|
1.325818e-05
|
|
|
anemia, sideroblastic, x-linked
|
[NCBI]
|
1.307439e-05
|
|
|
EA2
|
[NCBI]
|
1.304087e-05
|
|
|
FANCC
|
[NCBI]
|
1.294696e-05
|
|
|
SNRPN
|
[NCBI]
|
1.291863e-05
|
|
|
ASPA
|
[NCBI]
|
1.286517e-05
|
|
|
GAA
|
[NCBI]
|
1.280024e-05
|
|
|
pancreatic carcinoma
|
[NCBI]
|
1.274299e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
1.261107e-05
|
|
|
GALT
|
[NCBI]
|
1.256474e-05
|
|
|
SLOS
|
[NCBI]
|
1.255119e-05
|
|
|
SHH
|
[NCBI]
|
1.25399e-05
|
|
|
CYP17A1
|
[NCBI]
|
1.246428e-05
|
|
|
IGF2
|
[NCBI]
|
1.242527e-05
|
|
|
SCA17
|
[NCBI]
|
1.240825e-05
|
|
|
PPT1
|
[NCBI]
|
1.240681e-05
|
|
|
ERBB2
|
[NCBI]
|
1.238156e-05
|
|
|
ATD1
|
[NCBI]
|
1.215604e-05
|
|
|
NFKB1
|
[NCBI]
|
1.206016e-05
|
|
|
VWM
|
[NCBI]
|
1.194704e-05
|
|
|
NP
|
[NCBI]
|
1.186701e-05
|
|
|
MKKS
|
[NCBI]
|
1.184935e-05
|
|
|
ENG
|
[NCBI]
|
1.183063e-05
|
|
|
MECP2
|
[NCBI]
|
1.18063e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive
|
[NCBI]
|
1.168079e-05
|
|
|
POLG
|
[NCBI]
|
1.16341e-05
|
|
|
KAL2
|
[NCBI]
|
1.158755e-05
|
|
|
PCLD
|
[NCBI]
|
1.158755e-05
|
|
|
UCMD
|
[NCBI]
|
1.149439e-05
|
|
|
CAT
|
[NCBI]
|
1.148491e-05
|
|
|
DRD2
|
[NCBI]
|
1.127176e-05
|
|
|
MTATP6
|
[NCBI]
|
1.123491e-05
|
|
|
FLNA
|
[NCBI]
|
1.116996e-05
|
|
|
RSMD1
|
[NCBI]
|
1.090818e-05
|
|
|
ABL1
|
[NCBI]
|
1.068493e-05
|
|
|
F13A1
|
[NCBI]
|
1.06669e-05
|
|
|
HRPT1
|
[NCBI]
|
1.036501e-05
|
|
|
histidinemia
|
[NCBI]
|
1.033895e-05
|
|
|
MBS
|
[NCBI]
|
1.0246682e-05
|
|
|
AMACR
|
[NCBI]
|
1.009853e-05
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
1.002602e-05
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
9.98058e-06
|
|
|
A2M
|
[NCBI]
|
9.7986e-06
|
|
|
donohue syndrome
|
[NCBI]
|
9.78881e-06
|
|
|
epidermolysis bullosa with pyloric atresia
|
[NCBI]
|
9.78881e-06
|
|
|
PSEN1
|
[NCBI]
|
9.71326e-06
|
|
|
PAEP
|
[NCBI]
|
9.70385e-06
|
|
|
MLC
|
[NCBI]
|
9.64157e-06
|
|
|
MADA
|
[NCBI]
|
9.64157e-06
|
|
|
diastrophic dysplasia
|
[NCBI]
|
9.64157e-06
|
|
|
RP2
|
[NCBI]
|
9.53435e-06
|
|
|
EBR1
|
[NCBI]
|
9.39271e-06
|
|
|
FGF23
|
[NCBI]
|
9.34793e-06
|
|
|
BMP4
|
[NCBI]
|
9.1255e-06
|
|
|
PTK2
|
[NCBI]
|
8.75156e-06
|
|
|
fabry disease
|
[NCBI]
|
8.75008e-06
|
|
|
ZS
|
[NCBI]
|
8.69876e-06
|
|
|
HRAS
|
[NCBI]
|
8.63874e-06
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
8.61506e-06
|
|
|
pfeiffer syndrome
|
[NCBI]
|
8.61506e-06
|
|
|
faciogenital dysplasia
|
[NCBI]
|
8.56627e-06
|
|
|
giant platelet syndrome
|
[NCBI]
|
8.52045e-06
|
|
|
hyperglycerolemia
|
[NCBI]
|
8.47862e-06
|
|
|
porphyria cutanea tarda
|
[NCBI]
|
8.36371e-06
|
|
|
PTHLH
|
[NCBI]
|
8.26698e-06
|
|
|
KCNQ1
|
[NCBI]
|
8.16805e-06
|
|
|
BIRC1
|
[NCBI]
|
8.083e-06
|
|
|
megaloblastic anemia 1
|
[NCBI]
|
8.06492e-06
|
|
|
CHNG2
|
[NCBI]
|
8.05954e-06
|
|
|
FRDA
|
[NCBI]
|
8.05931e-06
|
|
|
tyrosinemia, type i
|
[NCBI]
|
7.91766e-06
|
|
|
THRB
|
[NCBI]
|
7.87324e-06
|
|
|
WT1
|
[NCBI]
|
7.84683e-06
|
|
|
PDB
|
[NCBI]
|
7.73295e-06
|
|
|
central core disease of muscle
|
[NCBI]
|
7.73295e-06
|
|
|
CFNS
|
[NCBI]
|
7.43801e-06
|
|
|
MSD
|
[NCBI]
|
7.33105e-06
|
|
|
OPTB1
|
[NCBI]
|
7.28407e-06
|
|
|
SPTA1
|
[NCBI]
|
7.24964e-06
|
|
|
CFTR
|
[NCBI]
|
7.15142e-06
|
|
|
APOA1
|
[NCBI]
|
7.11187e-06
|
|
|
ehlers-danlos syndrome, type i
|
[NCBI]
|
7.06588e-06
|
|
|
HEMB
|
[NCBI]
|
7.0287e-06
|
|
|
ELN
|
[NCBI]
|
6.90484e-06
|
|
|
CTGF
|
[NCBI]
|
6.56221e-06
|
|
|
G6PD
|
[NCBI]
|
6.49884e-06
|
|
|
OCRL
|
[NCBI]
|
6.43322e-06
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
6.29533e-06
|
|
|
AR
|
[NCBI]
|
6.18037e-06
|
|
|
FHM1
|
[NCBI]
|
6.13906e-06
|
|
|
PF4
|
[NCBI]
|
6.0415e-06
|
|
|
HNFJ
|
[NCBI]
|
6.03589e-06
|
|
|
ABCC1
|
[NCBI]
|
5.83727e-06
|
|
|
HSAS
|
[NCBI]
|
5.80115e-06
|
|
|
dubowitz syndrome
|
[NCBI]
|
5.75109e-06
|
|
|
JBTS1
|
[NCBI]
|
5.68832e-06
|
|
|
PARK2
|
[NCBI]
|
5.60032e-06
|
|
|
DMD
|
[NCBI]
|
5.58834e-06
|
|
|
RP3
|
[NCBI]
|
5.46193e-06
|
|
|
NRG1
|
[NCBI]
|
5.42504e-06
|
|
|
MODY
|
[NCBI]
|
5.203516e-06
|
|
|
MPO
|
[NCBI]
|
5.19651e-06
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
5.14124e-06
|
|
|
LRRK2
|
[NCBI]
|
5.10092e-06
|
|
|
hypogonadotropic hypogonadism
|
[NCBI]
|
5.09049e-06
|
|
|
RCDP1
|
[NCBI]
|
5.07152e-06
|
|
|
IL2
|
[NCBI]
|
4.95011e-06
|
|
|
ASS
|
[NCBI]
|
4.91294e-06
|
|
|
breast cancer
|
[NCBI]
|
4.87733e-06
|
|
|
FDH
|
[NCBI]
|
4.736109e-06
|
|
|
EVC
|
[NCBI]
|
4.73506e-06
|
|
|
menkes disease
|
[NCBI]
|
4.73168e-06
|
|
|
NEM3
|
[NCBI]
|
4.551822e-06
|
|
|
SRY
|
[NCBI]
|
4.45075e-06
|
|
|
PARK2
|
[NCBI]
|
4.23298e-06
|
|
|
AHO
|
[NCBI]
|
4.1657e-06
|
|
|
COL2A1
|
[NCBI]
|
4.1148e-06
|
|
|
OPA1
|
[NCBI]
|
3.919418e-06
|
|
|
phenylketonuria
|
[NCBI]
|
3.84404e-06
|
|
|
SMN1
|
[NCBI]
|
3.81099e-06
|
|
|
STL1
|
[NCBI]
|
3.79908e-06
|
|
|
CCD
|
[NCBI]
|
3.75659e-06
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
3.7409e-06
|
|
|
PHS
|
[NCBI]
|
3.738653e-06
|
|
|
ESR1
|
[NCBI]
|
3.73251e-06
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
3.66194e-06
|
|
|
HCH
|
[NCBI]
|
3.59028e-06
|
|
|
SRC
|
[NCBI]
|
3.58253e-06
|
|
|
LGMD2A
|
[NCBI]
|
3.40794e-06
|
|
|
AIRE
|
[NCBI]
|
3.39809e-06
|
|
|
GNAS
|
[NCBI]
|
3.33923e-06
|
|
|
myoclonic dystonia
|
[NCBI]
|
3.20506e-06
|
|
|
TPO
|
[NCBI]
|
3.150812e-06
|
|
|
HBFQTL2
|
[NCBI]
|
3.081536e-06
|
|
|
CMTX1
|
[NCBI]
|
3.038058e-06
|
|
|
CDPX2
|
[NCBI]
|
3.02004e-06
|
|
|
GIST
|
[NCBI]
|
2.9615746e-06
|
|
|
alopecia, androgenetic
|
[NCBI]
|
2.89711e-06
|
|
|
EGFR
|
[NCBI]
|
2.891105e-06
|
|
|
PLK1
|
[NCBI]
|
2.881955e-06
|
|
|
PPARG
|
[NCBI]
|
2.84602e-06
|
|
|
PCD
|
[NCBI]
|
2.715606e-06
|
|
|
OCA2
|
[NCBI]
|
2.68358e-06
|
|
|
MEB
|
[NCBI]
|
2.677878e-06
|
|
|
NGFR
|
[NCBI]
|
2.562908e-06
|
|
|
PGL1
|
[NCBI]
|
2.412983e-06
|
|
|
GLC1A
|
[NCBI]
|
2.388424e-06
|
|
|
MEN1
|
[NCBI]
|
2.384142e-06
|
|
|
FGFR1
|
[NCBI]
|
2.366053e-06
|
|
|
CYP1A1
|
[NCBI]
|
2.349276e-06
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
2.265484e-06
|
|
|
INS
|
[NCBI]
|
2.247892e-06
|
|
|
CMD1A
|
[NCBI]
|
2.210103e-06
|
|
|
COL1A1
|
[NCBI]
|
2.171901e-06
|
|
|
NS1
|
[NCBI]
|
2.124179e-06
|
|
|
TYMS
|
[NCBI]
|
1.893740865e-06
|
|
|
GNRH1
|
[NCBI]
|
1.89055e-06
|
|
|
migraine with or without aura, susceptibility to, 1
|
[NCBI]
|
1.884352292e-06
|
|
|
RASA1
|
[NCBI]
|
1.833329e-06
|
|
|
ATS
|
[NCBI]
|
1.817495e-06
|
|
|
GCPS
|
[NCBI]
|
1.752667e-06
|
|
|
PGR
|
[NCBI]
|
1.737799e-06
|
|
|
ACADM
|
[NCBI]
|
1.727519e-06
|
|
|
GRP
|
[NCBI]
|
1.708751e-06
|
|
|
DFSP
|
[NCBI]
|
1.7047634e-06
|
|
|
GAPDH
|
[NCBI]
|
1.6845392e-06
|
|
|
XDH
|
[NCBI]
|
1.66699e-06
|
|
|
IFNA1
|
[NCBI]
|
1.658109e-06
|
|
|
LDLR
|
[NCBI]
|
1.645965e-06
|
|
|
HSCR1
|
[NCBI]
|
1.614102e-06
|
|
|
RTT
|
[NCBI]
|
1.58051544e-06
|
|
|
PSACH
|
[NCBI]
|
1.57214e-06
|
|
|
ALB
|
[NCBI]
|
1.53577e-06
|
|
|
HHT
|
[NCBI]
|
1.49289548e-06
|
|
|
CCND1
|
[NCBI]
|
1.485153e-06
|
|
|
HYPP
|
[NCBI]
|
1.463213e-06
|
|
|
EPOR
|
[NCBI]
|
1.401561e-06
|
|
|
APC
|
[NCBI]
|
1.380906e-06
|
|
|
PXE
|
[NCBI]
|
1.346743e-06
|
|
|
HHF1
|
[NCBI]
|
1.340273e-06
|
|
|
KSS
|
[NCBI]
|
1.327027e-06
|
|
|
CPI
|
[NCBI]
|
1.2822103e-06
|
|
|
LCAT
|
[NCBI]
|
1.281891e-06
|
|
|
CLN3
|
[NCBI]
|
1.233821e-06
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
1.13879e-06
|
|
|
MJD
|
[NCBI]
|
1.0914983e-06
|
|
|
EV
|
[NCBI]
|
1.079942e-06
|
|
|
CP
|
[NCBI]
|
1.028498e-06
|
|
|
TTR
|
[NCBI]
|
1.0172106e-06
|
|
|
BMD
|
[NCBI]
|
9.50015e-07
|
|
|
PJS
|
[NCBI]
|
9.43578e-07
|
|
|
DNMT1
|
[NCBI]
|
9.02269e-07
|
|
|
porphyria variegata
|
[NCBI]
|
8.79552e-07
|
|
|
HGPS
|
[NCBI]
|
8.79552e-07
|
|
|
HMBS
|
[NCBI]
|
8.78935e-07
|
|
|
SCS
|
[NCBI]
|
8.64701e-07
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
8.55179e-07
|
|
|
DRPLA
|
[NCBI]
|
8.1116163e-07
|
|
|
mucolipidosis ii
|
[NCBI]
|
7.886757e-07
|
|
|
ND
|
[NCBI]
|
7.487829e-07
|
|
|
COMT
|
[NCBI]
|
7.44471e-07
|
|
|
HFE
|
[NCBI]
|
7.37186e-07
|
|
|
PTEN
|
[NCBI]
|
6.855784e-07
|
|
|
CDK2
|
[NCBI]
|
6.469299e-07
|
|
|
SCA6
|
[NCBI]
|
6.395505e-07
|
|
|
SCIDX1
|
[NCBI]
|
5.99692e-07
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
5.87677e-07
|
|
|
GTS
|
[NCBI]
|
5.773708e-07
|
|
|
SOD2
|
[NCBI]
|
5.75464e-07
|
|
|
FGFR2
|
[NCBI]
|
5.500254e-07
|
|
|
BCHE
|
[NCBI]
|
5.48982e-07
|
|
|
LRP1
|
[NCBI]
|
4.46001e-07
|
|
|
JPS
|
[NCBI]
|
3.69245e-07
|
|
|
TCOF
|
[NCBI]
|
3.472194e-07
|
|
|
APP
|
[NCBI]
|
3.3950087e-07
|
|
|
LQT1
|
[NCBI]
|
3.12763e-07
|
|
|
DYT1
|
[NCBI]
|
2.98318e-07
|
|
|
ALGS1
|
[NCBI]
|
2.43198e-07
|
|
|
ACH
|
[NCBI]
|
2.3498634e-07
|
|
|
CHM
|
[NCBI]
|
2.059992e-07
|
|
|
DCK
|
[NCBI]
|
1.924844e-07
|
|
|
OPMD
|
[NCBI]
|
1.1095743e-07
|
|
|
AMC
|
[NCBI]
|
1.0242210539e-07
|
|
|
CMT1B
|
[NCBI]
|
9.28697e-08
|
|
|
LNS
|
[NCBI]
|
7.17399e-08
|
|
|
VWS
|
[NCBI]
|
6.08349529e-08
|
|
|
krabbe disease
|
[NCBI]
|
5.5208336e-08
|
|
|
FCMD
|
[NCBI]
|
5.346510539e-08
|
|
|
CCM
|
[NCBI]
|
3.329370539e-08
|
|
|
PDCD8
|
[NCBI]
|
3.28528e-08
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
2.503237e-08
|
|
|
BRRS
|
[NCBI]
|
2.50085e-08
|
|
|
maple syrup urine disease
|
[NCBI]
|
2.073540539e-08
|
|
|
glioma of brain, familial
|
[NCBI]
|
1.75602529e-08
|
|
|
NF2
|
[NCBI]
|
1.426405e-08
|
|