|
OMIM |
Link |
Information
gain |
01 |
|
|
kabuki syndrome
|
[NCBI]
|
0.0148575
|
|
|
|
MRX1
|
[NCBI]
|
0.00799485
|
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.00779982
|
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.00527632
|
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.00417271
|
|
|
|
SLE
|
[NCBI]
|
0.00415611
|
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.00326512
|
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.00311473
|
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.00282676
|
|
|
|
CF
|
[NCBI]
|
0.00246256
|
|
|
|
JBTS1
|
[NCBI]
|
0.00242224
|
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.00236781
|
|
|
|
SMS
|
[NCBI]
|
0.00230442
|
|
|
|
hennekam lymphangiectasia-lymphedema syndrome
|
[NCBI]
|
0.00212002
|
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
0.0020461
|
|
|
|
MEHMO
|
[NCBI]
|
0.00187274
|
|
|
|
genitopatellar syndrome
|
[NCBI]
|
0.00187274
|
|
|
|
MRX23
|
[NCBI]
|
0.00187274
|
|
|
|
CLS
|
[NCBI]
|
0.00181018
|
|
|
|
COH1
|
[NCBI]
|
0.00179719
|
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.0015341
|
|
|
|
ATRX
|
[NCBI]
|
0.0014933
|
|
|
|
carnosinemia
|
[NCBI]
|
0.00148754
|
|
|
|
MRX3
|
[NCBI]
|
0.00148754
|
|
|
|
EFMR
|
[NCBI]
|
0.00148754
|
|
|
|
chromosome 10q deletion syndrome
|
[NCBI]
|
0.00148754
|
|
|
|
kbg syndrome
|
[NCBI]
|
0.00148754
|
|
|
|
costello syndrome
|
[NCBI]
|
0.00143018
|
|
|
|
ATRX
|
[NCBI]
|
0.00142547
|
|
|
|
MRX2
|
[NCBI]
|
0.00140407
|
|
|
|
cerebellar hypoplasia, mental retardation, and quadrupedal locomotion
|
[NCBI]
|
0.00140407
|
|
|
|
FGS2
|
[NCBI]
|
0.00140407
|
|
|
|
wieacker syndrome
|
[NCBI]
|
0.00140407
|
|
|
|
WTS
|
[NCBI]
|
0.00140407
|
|
|
|
MRX20
|
[NCBI]
|
0.00140407
|
|
|
|
alopecia-mental retardation syndrome 1
|
[NCBI]
|
0.00140407
|
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.00140232
|
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
0.00128864
|
|
|
|
MRXHF1
|
[NCBI]
|
0.00124845
|
|
|
|
OKS
|
[NCBI]
|
0.00121785
|
|
|
|
IS1
|
[NCBI]
|
0.001165
|
|
|
|
AMMECR1
|
[NCBI]
|
0.00105862
|
|
|
|
onychotrichodysplasia and neutropenia
|
[NCBI]
|
0.00105862
|
|
|
|
WHS
|
[NCBI]
|
0.00101215
|
|
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
0.000980614
|
|
|
|
ND
|
[NCBI]
|
0.000970985
|
|
|
|
acrodysostosis
|
[NCBI]
|
0.000941583
|
|
|
|
MRT12
|
[NCBI]
|
0.00093573
|
|
|
|
deafness, conductive, with malformed external ear
|
[NCBI]
|
0.00093573
|
|
|
|
scholte syndrome
|
[NCBI]
|
0.00093573
|
|
|
|
brooks-wisniewski-brown syndrome
|
[NCBI]
|
0.00093573
|
|
|
|
MRSD
|
[NCBI]
|
0.00093573
|
|
|
|
SCAR5
|
[NCBI]
|
0.00093573
|
|
|
|
alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality
|
[NCBI]
|
0.00093573
|
|
|
|
MRX50
|
[NCBI]
|
0.00093573
|
|
|
|
PRS
|
[NCBI]
|
0.00093573
|
|
|
|
MRXS7
|
[NCBI]
|
0.00093573
|
|
|
|
parkinsonism, early-onset, with mental retardation
|
[NCBI]
|
0.00093573
|
|
|
|
spastic diplegia, infantile type
|
[NCBI]
|
0.00093573
|
|
|
|
DMC
|
[NCBI]
|
0.000910852
|
|
|
|
BFLS
|
[NCBI]
|
0.000897049
|
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.000891399
|
|
|
|
MCDU
|
[NCBI]
|
0.000891399
|
|
|
|
AD
|
[NCBI]
|
0.000855815
|
|
|
|
WBS
|
[NCBI]
|
0.0008004
|
|
|
|
sotos syndrome
|
[NCBI]
|
0.000796017
|
|
|
|
FMR1
|
[NCBI]
|
0.000779736
|
|
|
|
AS
|
[NCBI]
|
0.000778933
|
|
|
|
trichorrhexis nodosa syndrome
|
[NCBI]
|
0.00077479
|
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.00077479
|
|
|
|
ZLS
|
[NCBI]
|
0.000737298
|
|
|
|
AIC
|
[NCBI]
|
0.000733653
|
|
|
|
masa syndrome
|
[NCBI]
|
0.000709953
|
|
|
|
MECP2
|
[NCBI]
|
0.000695069
|
|
|
|
hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
|
[NCBI]
|
0.000643717
|
|
|
|
valinemia
|
[NCBI]
|
0.000643717
|
|
|
|
mental retardation with optic atrophy, deafness, and seizures
|
[NCBI]
|
0.000643717
|
|
|
|
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers
|
[NCBI]
|
0.000643717
|
|
|
|
sabinas brittle hair syndrome
|
[NCBI]
|
0.000643717
|
|
|
|
arima syndrome
|
[NCBI]
|
0.000612958
|
|
|
|
MRXS13
|
[NCBI]
|
0.000612713
|
|
|
|
RENS1
|
[NCBI]
|
0.000578422
|
|
|
|
MBS
|
[NCBI]
|
0.000571266
|
|
|
|
ACLS
|
[NCBI]
|
0.000564228
|
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
0.000556356
|
|
|
|
AHDS
|
[NCBI]
|
0.000545494
|
|
|
|
ARX
|
[NCBI]
|
0.000539535
|
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.000537203
|
|
|
|
PAK3
|
[NCBI]
|
0.000527189
|
|
|
|
brachydactyly-mental retardation syndrome
|
[NCBI]
|
0.000516241
|
|
|
|
methionine malabsorption syndrome
|
[NCBI]
|
0.000516241
|
|
|
|
rosselli-gulienetti syndrome
|
[NCBI]
|
0.000516241
|
|
|
|
dandy-walker malformation with mental retardation, basal ganglia disease, and seizures
|
[NCBI]
|
0.000516241
|
|
|
|
histidinuria due to a renal tubular defect
|
[NCBI]
|
0.000516241
|
|
|
|
alpha-thalassemia/mental retardation syndrome, deletion-type
|
[NCBI]
|
0.000508964
|
|
|
|
L1CAM
|
[NCBI]
|
0.000491026
|
|
|
|
MRT5
|
[NCBI]
|
0.000467706
|
|
|
|
crome syndrome
|
[NCBI]
|
0.000467706
|
|
|
|
wittwer syndrome
|
[NCBI]
|
0.000467706
|
|
|
|
MRX72
|
[NCBI]
|
0.000467706
|
|
|
|
MRT10
|
[NCBI]
|
0.000467706
|
|
|
|
FGS3
|
[NCBI]
|
0.000467706
|
|
|
|
abidi x-linked mental retardation syndrome
|
[NCBI]
|
0.000467706
|
|
|
|
cataract, ataxia, short stature, and mental retardation
|
[NCBI]
|
0.000467706
|
|
|
|
SCKL2
|
[NCBI]
|
0.000467706
|
|
|
|
MRX52
|
[NCBI]
|
0.000467706
|
|
|
|
MRT4
|
[NCBI]
|
0.000467706
|
|
|
|
aphalangia, partial, with syndactyly and duplication of metatarsal iv
|
[NCBI]
|
0.000467706
|
|
|
|
hyperphosphatasia with mental retardation
|
[NCBI]
|
0.000467706
|
|
|
|
MCS
|
[NCBI]
|
0.000467706
|
|
|
|
SPG32
|
[NCBI]
|
0.000467706
|
|
|
|
MRT8
|
[NCBI]
|
0.000467706
|
|
|
|
broad terminal phalanges, familial
|
[NCBI]
|
0.000467706
|
|
|
|
MRXS11
|
[NCBI]
|
0.000467706
|
|
|
|
MRX29
|
[NCBI]
|
0.000467706
|
|
|
|
coloboma-obesity-hypogenitalism-mental retardation syndrome
|
[NCBI]
|
0.000467706
|
|
|
|
MRX73
|
[NCBI]
|
0.000467706
|
|
|
|
oculorenocerebellar syndrome
|
[NCBI]
|
0.000467706
|
|
|
|
MRXS12
|
[NCBI]
|
0.000467706
|
|
|
|
MRX53
|
[NCBI]
|
0.000467706
|
|
|
|
umbilicus, familial flat
|
[NCBI]
|
0.000467706
|
|
|
|
MRX82
|
[NCBI]
|
0.000467706
|
|
|
|
MRT11
|
[NCBI]
|
0.000467706
|
|
|
|
3q29 microdeletion syndrome
|
[NCBI]
|
0.000467706
|
|
|
|
alopecia-mental retardation syndrome 2
|
[NCBI]
|
0.000467706
|
|
|
|
ataxia, deafness, and cardiomyopathy
|
[NCBI]
|
0.000467706
|
|
|
|
anisomastia
|
[NCBI]
|
0.000467706
|
|
|
|
MRT9
|
[NCBI]
|
0.000467706
|
|
|
|
mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration
|
[NCBI]
|
0.000467706
|
|
|
|
short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting
|
[NCBI]
|
0.000467706
|
|
|
|
tricarboxylic acid cycle, defect of
|
[NCBI]
|
0.000467706
|
|
|
|
MRX42
|
[NCBI]
|
0.000467706
|
|
|
|
heterotopia, periventricular, associated with chromosome 5p anomalies
|
[NCBI]
|
0.000467706
|
|
|
|
SCKL3
|
[NCBI]
|
0.000467706
|
|
|
|
MRT7
|
[NCBI]
|
0.000467706
|
|
|
|
armfield x-linked mental retardation syndrome
|
[NCBI]
|
0.000467706
|
|
|
|
amyotrophic lateral sclerosis, juvenile, with dementia
|
[NCBI]
|
0.000467706
|
|
|
|
FGS4
|
[NCBI]
|
0.000467706
|
|
|
|
mental retardation, truncal obesity, retinal dystrophy, and micropenis
|
[NCBI]
|
0.000467706
|
|
|
|
CDLS1
|
[NCBI]
|
0.000456905
|
|
|
|
pitt syndrome
|
[NCBI]
|
0.000438076
|
|
|
|
ZEB2
|
[NCBI]
|
0.000432524
|
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000431306
|
|
|
|
PWS
|
[NCBI]
|
0.000426309
|
|
|
|
RPS6KA3
|
[NCBI]
|
0.000416083
|
|
|
|
PQBP1
|
[NCBI]
|
0.000413042
|
|
|
|
seckel syndrome 1
|
[NCBI]
|
0.000409989
|
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
0.000405473
|
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
0.000403487
|
|
|
|
MSS
|
[NCBI]
|
0.000393447
|
|
|
|
GDI1
|
[NCBI]
|
0.000390482
|
|
|
|
FRAXE
|
[NCBI]
|
0.000389874
|
|
|
|
SLOS
|
[NCBI]
|
0.000386033
|
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
0.000385249
|
|
|
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
0.000381957
|
|
|
|
MRT1
|
[NCBI]
|
0.00037659
|
|
|
|
MRX9
|
[NCBI]
|
0.00037659
|
|
|
|
WARBM
|
[NCBI]
|
0.00037659
|
|
|
|
AUTS4
|
[NCBI]
|
0.00036814
|
|
|
|
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina
|
[NCBI]
|
0.00036814
|
|
|
|
clark-baraitser syndrome
|
[NCBI]
|
0.000364318
|
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
0.000363545
|
|
|
|
infantile spasm syndrome, x-linked
|
[NCBI]
|
0.00035913
|
|
|
|
mohr syndrome
|
[NCBI]
|
0.000350627
|
|
|
|
martsolf syndrome
|
[NCBI]
|
0.000348556
|
|
|
|
OCRL
|
[NCBI]
|
0.000330048
|
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.000322372
|
|
|
|
c syndrome
|
[NCBI]
|
0.00032052
|
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
0.000318373
|
|
|
|
ichthyosis follicularis, atrichia, and photophobia syndrome
|
[NCBI]
|
0.000318373
|
|
|
|
d-glyceric acidemia
|
[NCBI]
|
0.000318373
|
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.000318373
|
|
|
|
young-simpson syndrome
|
[NCBI]
|
0.000318168
|
|
|
|
amme complex
|
[NCBI]
|
0.000318168
|
|
|
|
HRD
|
[NCBI]
|
0.000309728
|
|
|
|
phenylketonuria
|
[NCBI]
|
0.000308261
|
|
|
|
SLS
|
[NCBI]
|
0.000307572
|
|
|
|
MRX21
|
[NCBI]
|
0.00030358
|
|
|
|
MRX54
|
[NCBI]
|
0.00030358
|
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
0.00030358
|
|
|
|
CVG/MR
|
[NCBI]
|
0.00030358
|
|
|
|
pterygia, mental retardation, and distinctive craniofacial features
|
[NCBI]
|
0.00030358
|
|
|
|
iris coloboma with ptosis, hypertelorism, and mental retardation
|
[NCBI]
|
0.00030358
|
|
|
|
lujan-fryns syndrome
|
[NCBI]
|
0.000292166
|
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
0.000289844
|
|
|
|
kohlschutter-tonz syndrome
|
[NCBI]
|
0.000277728
|
|
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
[NCBI]
|
0.0002762
|
|
|
|
NDP
|
[NCBI]
|
0.000274499
|
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.000273392
|
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.000273392
|
|
|
|
VLDLRCH
|
[NCBI]
|
0.000272615
|
|
|
|
cerebrooculonasal syndrome
|
[NCBI]
|
0.000257978
|
|
|
|
breast cancer, 11-22 translocation associated
|
[NCBI]
|
0.000257978
|
|
|
|
dibasicaminoaciduria i
|
[NCBI]
|
0.000257978
|
|
|
|
HHG
|
[NCBI]
|
0.000257978
|
|
|
|
SPG14
|
[NCBI]
|
0.000257978
|
|
|
|
lelis syndrome
|
[NCBI]
|
0.000257978
|
|
|
|
CORD1
|
[NCBI]
|
0.000257978
|
|
|
|
ketoaciduria with mental deficiency and other features
|
[NCBI]
|
0.000257978
|
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal recessive
|
[NCBI]
|
0.000257978
|
|
|
|
polymicrogyria, unilateral
|
[NCBI]
|
0.000257978
|
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
0.000256767
|
|
|
|
NSD1
|
[NCBI]
|
0.000254892
|
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000252026
|
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.000244386
|
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
0.000243706
|
|
|
|
folic acid, transport defect involving
|
[NCBI]
|
0.000243706
|
|
|
|
microcephaly, hiatus hernia, and nephrotic syndrome
|
[NCBI]
|
0.000243706
|
|
|
|
gurrieri syndrome
|
[NCBI]
|
0.000242849
|
|
|
|
LGMD2K
|
[NCBI]
|
0.000242849
|
|
|
|
MRT2
|
[NCBI]
|
0.000242849
|
|
|
|
MRX30
|
[NCBI]
|
0.000242849
|
|
|
|
PKS
|
[NCBI]
|
0.000242399
|
|
|
|
TRPS2
|
[NCBI]
|
0.000242048
|
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
0.000236466
|
|
|
|
HPRT1
|
[NCBI]
|
0.000235559
|
|
|
|
RAI1
|
[NCBI]
|
0.000233761
|
|
|
|
FRNS
|
[NCBI]
|
0.000233585
|
|
|
|
BBS
|
[NCBI]
|
0.000233498
|
|
|
|
histidinemia
|
[NCBI]
|
0.000227185
|
|
|
|
SHANK3
|
[NCBI]
|
0.000221892
|
|
|
|
ARHGEF6
|
[NCBI]
|
0.000221892
|
|
|
|
SLC16A2
|
[NCBI]
|
0.000221505
|
|
|
|
adenylosuccinase deficiency
|
[NCBI]
|
0.000218946
|
|
|
|
iminoglycinuria
|
[NCBI]
|
0.000214718
|
|
|
|
DFN2
|
[NCBI]
|
0.000214718
|
|
|
|
COH1
|
[NCBI]
|
0.000210711
|
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
0.000204904
|
|
|
|
tyrosine transaminase deficiency
|
[NCBI]
|
0.00020285
|
|
|
|
malpuech facial clefting syndrome
|
[NCBI]
|
0.000202677
|
|
|
|
PTHS
|
[NCBI]
|
0.000202677
|
|
|
|
homocystinuria
|
[NCBI]
|
0.000200816
|
|
|
|
CD
|
[NCBI]
|
0.00020021
|
|
|
|
JBS
|
[NCBI]
|
0.000196792
|
|
|
|
SGBS1
|
[NCBI]
|
0.00019516
|
|
|
|
RTT
|
[NCBI]
|
0.000194454
|
|
|
|
MCOPS1
|
[NCBI]
|
0.000189685
|
|
|
|
SRS
|
[NCBI]
|
0.000185854
|
|
|
|
kaufman oculocerebrofacial syndrome
|
[NCBI]
|
0.000183943
|
|
|
|
cerebrofaciothoracic dysplasia
|
[NCBI]
|
0.000183943
|
|
|
|
cerebellar atrophy with progressive microcephaly
|
[NCBI]
|
0.000183943
|
|
|
|
van der woude syndrome modifier
|
[NCBI]
|
0.000183943
|
|
|
|
adducted thumbs syndrome
|
[NCBI]
|
0.000183943
|
|
|
|
cowchock syndrome
|
[NCBI]
|
0.000183943
|
|
|
|
behr syndrome
|
[NCBI]
|
0.000183943
|
|
|
|
OFD3
|
[NCBI]
|
0.000183943
|
|
|
|
megalencephaly
|
[NCBI]
|
0.000183943
|
|
|
|
FSHMD1A
|
[NCBI]
|
0.000183523
|
|
|
|
CLPED1
|
[NCBI]
|
0.000183041
|
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
0.000182658
|
|
|
|
nicolaides-baraitser syndrome
|
[NCBI]
|
0.000182125
|
|
|
|
MRT3
|
[NCBI]
|
0.000182125
|
|
|
|
ataxia-deafness-retardation syndrome
|
[NCBI]
|
0.000182125
|
|
|
|
alopecia-contractures-dwarfism mental retardation syndrome
|
[NCBI]
|
0.000182125
|
|
|
|
MRX46
|
[NCBI]
|
0.000182125
|
|
|
|
neurofaciodigitorenal syndrome
|
[NCBI]
|
0.000182125
|
|
|
|
paine syndrome
|
[NCBI]
|
0.000182125
|
|
|
|
retinopathy, pigmentary, and mental retardation
|
[NCBI]
|
0.000182125
|
|
|
|
atkin-flaitz syndrome
|
[NCBI]
|
0.000182125
|
|
|
|
aminoadipic aciduria
|
[NCBI]
|
0.000182125
|
|
|
|
limb defects, distal transverse, with mental retardation and spasticity
|
[NCBI]
|
0.000182125
|
|
|
|
fountain syndrome
|
[NCBI]
|
0.000182125
|
|
|
|
brunner syndrome
|
[NCBI]
|
0.000182125
|
|
|
|
MRX58
|
[NCBI]
|
0.000182125
|
|
|
|
camera-marugo-cohen syndrome
|
[NCBI]
|
0.000182125
|
|
|
|
alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism
|
[NCBI]
|
0.000182125
|
|
|
|
mental retardation, x-linked, snyder-robinson type
|
[NCBI]
|
0.000182125
|
|
|
|
mental retardation, buenos aires type
|
[NCBI]
|
0.000182125
|
|
|
|
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
|
[NCBI]
|
0.000181714
|
|
|
|
zunich neuroectodermal syndrome
|
[NCBI]
|
0.000181714
|
|
|
|
charge syndrome
|
[NCBI]
|
0.000180389
|
|
|
|
GCE
|
[NCBI]
|
0.000177945
|
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
0.000177945
|
|
|
|
POMT1
|
[NCBI]
|
0.000177717
|
|
|
|
MCPH1
|
[NCBI]
|
0.000177262
|
|
|
|
HMI
|
[NCBI]
|
0.000175808
|
|
|
|
EGF
|
[NCBI]
|
0.00017574
|
|
|
|
TM4SF2
|
[NCBI]
|
0.000172846
|
|
|
|
TTDN1
|
[NCBI]
|
0.000172846
|
|
|
|
TTDP
|
[NCBI]
|
0.000171686
|
|
|
|
CIPA
|
[NCBI]
|
0.000171686
|
|
|
|
IH
|
[NCBI]
|
0.000167847
|
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.000167847
|
|
|
|
microcephaly, autosomal dominant
|
[NCBI]
|
0.000167847
|
|
|
|
TTDN1
|
[NCBI]
|
0.000166518
|
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
0.000166518
|
|
|
|
LCA1
|
[NCBI]
|
0.000165917
|
|
|
|
TBCE
|
[NCBI]
|
0.00016334
|
|
|
|
APC
|
[NCBI]
|
0.000160566
|
|
|
|
potocki-shaffer syndrome
|
[NCBI]
|
0.000159149
|
|
|
|
CHL1
|
[NCBI]
|
0.000158013
|
|
|
|
MDD
|
[NCBI]
|
0.000157617
|
|
|
|
ADSL
|
[NCBI]
|
0.0001495
|
|
|
|
OPHN1
|
[NCBI]
|
0.0001495
|
|
|
|
mental retardation, x-linked, syndromic, jarid1c-related
|
[NCBI]
|
0.00014605
|
|
|
|
PRTS
|
[NCBI]
|
0.00014605
|
|
|
|
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
|
[NCBI]
|
0.00014605
|
|
|
|
gombo syndrome
|
[NCBI]
|
0.00014605
|
|
|
|
CDKL5
|
[NCBI]
|
0.000144107
|
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
0.00014128
|
|
|
|
SHFM1
|
[NCBI]
|
0.000140983
|
|
|
|
arthrogryposis multiplex congenita, distal, x-linked
|
[NCBI]
|
0.000138752
|
|
|
|
saccharopinuria
|
[NCBI]
|
0.000138752
|
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.000138752
|
|
|
|
omodysplasia
|
[NCBI]
|
0.000138752
|
|
|
|
acromial dimples
|
[NCBI]
|
0.000138752
|
|
|
|
MCOPS4
|
[NCBI]
|
0.000138752
|
|
|
|
johnson neuroectodermal syndrome
|
[NCBI]
|
0.000138752
|
|
|
|
bullous dystrophy, hereditary macular type
|
[NCBI]
|
0.000138752
|
|
|
|
focal facial dermal dysplasia
|
[NCBI]
|
0.000138752
|
|
|
|
autism, susceptibility to, 3
|
[NCBI]
|
0.000138752
|
|
|
|
patent ductus arteriosus
|
[NCBI]
|
0.000138752
|
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000138388
|
|
|
|
BPP
|
[NCBI]
|
0.000136073
|
|
|
|
VCX3A
|
[NCBI]
|
0.000135703
|
|
|
|
RP
|
[NCBI]
|
0.000133506
|
|
|
|
FA
|
[NCBI]
|
0.000129027
|
|
|
|
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance
|
[NCBI]
|
0.000128351
|
|
|
|
TCPT
|
[NCBI]
|
0.000128351
|
|
|
|
MRX59
|
[NCBI]
|
0.000128351
|
|
|
|
hydroxyprolinemia
|
[NCBI]
|
0.000128351
|
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.000127087
|
|
|
|
SLC6A8
|
[NCBI]
|
0.000124786
|
|
|
|
MED12
|
[NCBI]
|
0.000124661
|
|
|
|
FTSJ1
|
[NCBI]
|
0.000124661
|
|
|
|
JARID1C
|
[NCBI]
|
0.000124661
|
|
|
|
PHF6
|
[NCBI]
|
0.000124661
|
|
|
|
ITPA
|
[NCBI]
|
0.000124661
|
|
|
|
HSAS
|
[NCBI]
|
0.000124048
|
|
|
|
OPTB3
|
[NCBI]
|
0.000122925
|
|
|
|
DMD
|
[NCBI]
|
0.000122309
|
|
|
|
WSS
|
[NCBI]
|
0.000122128
|
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
0.000122128
|
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
0.000121867
|
|
|
|
ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum
|
[NCBI]
|
0.000121409
|
|
|
|
spastic paresis, glaucoma, and mental retardation
|
[NCBI]
|
0.000121409
|
|
|
|
sucrosuria, hiatus hernia and mental retardation
|
[NCBI]
|
0.000121409
|
|
|
|
acrofacial dysostosis, catania type
|
[NCBI]
|
0.000121409
|
|
|
|
cataract-ataxia-deafness-retardation syndrome
|
[NCBI]
|
0.000121409
|
|
|
|
microcephalic primordial dwarfism, toriello type
|
[NCBI]
|
0.000121409
|
|
|
|
pterygium colli and mental retardation with facial and digital anomalies
|
[NCBI]
|
0.000121409
|
|
|
|
blepharonasofacial malformation syndrome
|
[NCBI]
|
0.000121409
|
|
|
|
pallister w syndrome
|
[NCBI]
|
0.000121409
|
|
|
|
laryngeal abductor paralysis
|
[NCBI]
|
0.000121409
|
|
|
|
arthrogryposis, distal, with mental retardation and characteristic facies
|
[NCBI]
|
0.000121409
|
|
|
|
tonoki syndrome
|
[NCBI]
|
0.000121409
|
|
|
|
achalasia-microcephaly syndrome
|
[NCBI]
|
0.000121409
|
|
|
|
MRT6
|
[NCBI]
|
0.000121409
|
|
|
|
thumbs, stiff, with brachydactyly type a1 and developmental delay
|
[NCBI]
|
0.000121409
|
|
|
|
choroid plexus calcification and mental retardation
|
[NCBI]
|
0.000121409
|
|
|
|
cerebrofacioarticular syndrome
|
[NCBI]
|
0.000121409
|
|
|
|
mental retardation syndrome, mietens-weber type
|
[NCBI]
|
0.000121409
|
|
|
|
fibromatosis, gingival, with hypertrichosis and mental retardation
|
[NCBI]
|
0.000121409
|
|
|
|
acrofrontofacionasal dysostosis syndrome
|
[NCBI]
|
0.000121409
|
|
|
|
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism
|
[NCBI]
|
0.000121409
|
|
|
|
lambert syndrome
|
[NCBI]
|
0.000121409
|
|
|
|
hirsutism--skeletal dysplasia--mental retardation syndrome
|
[NCBI]
|
0.000121409
|
|
|
|
MRD1
|
[NCBI]
|
0.000121409
|
|
|
|
craniosynostosis-mental retardation syndrome of lin and gettig
|
[NCBI]
|
0.000121409
|
|
|
|
retinitis pigmentosa, deafness, mental retardation, and hypogonadism
|
[NCBI]
|
0.000121409
|
|
|
|
mcdonough syndrome
|
[NCBI]
|
0.000121409
|
|
|
|
NSX
|
[NCBI]
|
0.000121409
|
|
|
|
edinburgh malformation syndrome
|
[NCBI]
|
0.000121409
|
|
|
|
scott craniodigital syndrome with mental retardation
|
[NCBI]
|
0.000121409
|
|
|
|
limb deficiencies, distal, with micrognathia
|
[NCBI]
|
0.000121409
|
|
|
|
RSTS
|
[NCBI]
|
0.000120212
|
|
|
|
IL1RAPL1
|
[NCBI]
|
0.00011682
|
|
|
|
F7R
|
[NCBI]
|
0.00011682
|
|
|
|
cri-du-chat syndrome
|
[NCBI]
|
0.000116258
|
|
|
|
ACCPN
|
[NCBI]
|
0.000116258
|
|
|
|
mental retardation, fra12a type
|
[NCBI]
|
0.00011587
|
|
|
|
chromosome 18p deletion syndrome
|
[NCBI]
|
0.00011587
|
|
|
|
chorioretinal dysplasia-microcephaly-mental retardation syndrome
|
[NCBI]
|
0.00011587
|
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
0.00011587
|
|
|
|
MRXSL
|
[NCBI]
|
0.00011587
|
|
|
|
watson syndrome
|
[NCBI]
|
0.00011587
|
|
|
|
ramon syndrome
|
[NCBI]
|
0.00011587
|
|
|
|
SMC
|
[NCBI]
|
0.00011587
|
|
|
|
mucopolysaccharidosis type iiib
|
[NCBI]
|
0.000115333
|
|
|
|
deafness, conductive, with stapes fixation
|
[NCBI]
|
0.000115333
|
|
|
|
DWS
|
[NCBI]
|
0.000115235
|
|
|
|
weaver syndrome
|
[NCBI]
|
0.000111841
|
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
0.000110465
|
|
|
|
menkes disease
|
[NCBI]
|
0.000107666
|
|
|
|
CSA
|
[NCBI]
|
0.000107518
|
|
|
|
cerebral palsy, ataxic, autosomal recessive
|
[NCBI]
|
0.000107261
|
|
|
|
laryngeal abductor paralysis
|
[NCBI]
|
0.000107261
|
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.000107261
|
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
0.000106183
|
|
|
|
monosomy 1p36 syndrome
|
[NCBI]
|
0.000106183
|
|
|
|
marshall-smith syndrome
|
[NCBI]
|
0.000106183
|
|
|
|
fragile site 2q11
|
[NCBI]
|
0.000106183
|
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
0.000106183
|
|
|
|
FACL4
|
[NCBI]
|
0.00010565
|
|
|
|
ZNF261
|
[NCBI]
|
0.000105328
|
|
|
|
KCNE1L
|
[NCBI]
|
0.000105328
|
|
|
|
CRBN
|
[NCBI]
|
0.000105328
|
|
|
|
BPES
|
[NCBI]
|
0.000101991
|
|
|
|
PRL
|
[NCBI]
|
0.000100376
|
|
|
|
OFD1
|
[NCBI]
|
9.9507e-05
|
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
9.82681e-05
|
|
|
|
MDC1C
|
[NCBI]
|
9.82681e-05
|
|
|
|
creatine deficiency syndrome, x-linked
|
[NCBI]
|
9.82681e-05
|
|
|
|
radioulnar synostosis
|
[NCBI]
|
9.82681e-05
|
|
|
|
FKRP
|
[NCBI]
|
9.77512e-05
|
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
9.7529e-05
|
|
|
|
MVA
|
[NCBI]
|
9.3708e-05
|
|
|
|
NS1
|
[NCBI]
|
9.36435e-05
|
|
|
|
GCPS
|
[NCBI]
|
9.29652e-05
|
|
|
|
GAMT
|
[NCBI]
|
9.22499e-05
|
|
|
|
fucosidosis
|
[NCBI]
|
9.22499e-05
|
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
9.15858e-05
|
|
|
|
PTH
|
[NCBI]
|
9.14642e-05
|
|
|
|
oculocerebral hypopigmentation syndrome of preus
|
[NCBI]
|
9.08422e-05
|
|
|
|
ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
|
[NCBI]
|
9.08422e-05
|
|
|
|
brachymorphism-onychodysplasia-dysphalangism syndrome
|
[NCBI]
|
9.08422e-05
|
|
|
|
ichthyosis and male hypogonadism
|
[NCBI]
|
9.08422e-05
|
|
|
|
ARTS
|
[NCBI]
|
9.08422e-05
|
|
|
|
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
|
[NCBI]
|
9.08422e-05
|
|
|
|
premature chromosome condensation with microcephaly and mental retardation
|
[NCBI]
|
9.08422e-05
|
|
|
|
cree mental retardation syndrome
|
[NCBI]
|
9.08422e-05
|
|
|
|
cardiogenital syndrome
|
[NCBI]
|
9.08422e-05
|
|
|
|
MRX63
|
[NCBI]
|
9.08422e-05
|
|
|
|
MRGH
|
[NCBI]
|
9.08422e-05
|
|
|
|
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
|
[NCBI]
|
9.08422e-05
|
|
|
|
macrocephaly
|
[NCBI]
|
9.08422e-05
|
|
|
|
NHS
|
[NCBI]
|
8.68097e-05
|
|
|
|
danon disease
|
[NCBI]
|
8.68097e-05
|
|
|
|
SNX3
|
[NCBI]
|
8.63959e-05
|
|
|
|
LETM1
|
[NCBI]
|
8.63959e-05
|
|
|
|
GATM
|
[NCBI]
|
8.63959e-05
|
|
|
|
RAB3GAP1
|
[NCBI]
|
8.63959e-05
|
|
|
|
DYM
|
[NCBI]
|
8.63959e-05
|
|
|
|
hyperprolinemia, type ii
|
[NCBI]
|
8.5813e-05
|
|
|
|
sarcosinemia
|
[NCBI]
|
8.5813e-05
|
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
8.5813e-05
|
|
|
|
floating-harbor syndrome
|
[NCBI]
|
8.5813e-05
|
|
|
|
LNS
|
[NCBI]
|
8.46355e-05
|
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
8.38382e-05
|
|
|
|
acanthosis nigricans
|
[NCBI]
|
8.38382e-05
|
|
|
|
OFD9
|
[NCBI]
|
8.38382e-05
|
|
|
|
SPG15
|
[NCBI]
|
8.38382e-05
|
|
|
|
KCS
|
[NCBI]
|
8.07402e-05
|
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
8.07402e-05
|
|
|
|
megalencephaly-cutis marmorata telangiectatica congenita
|
[NCBI]
|
8.07402e-05
|
|
|
|
shprintzen-goldberg craniosynostosis syndrome
|
[NCBI]
|
8.07402e-05
|
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
8.03615e-05
|
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
7.89145e-05
|
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
7.79407e-05
|
|
|
|
CHRNA7
|
[NCBI]
|
7.78664e-05
|
|
|
|
CUL4B
|
[NCBI]
|
7.78664e-05
|
|
|
|
AP1B1
|
[NCBI]
|
7.78664e-05
|
|
|
|
PUS1
|
[NCBI]
|
7.78664e-05
|
|
|
|
AP1S2
|
[NCBI]
|
7.78664e-05
|
|
|
|
brachycephaly, deafness, cataract, microstomia, and mental retardation
|
[NCBI]
|
7.72394e-05
|
|
|
|
mental retardation with epilepsy and characteristic facies
|
[NCBI]
|
7.72394e-05
|
|
|
|
MCOPS8
|
[NCBI]
|
7.72394e-05
|
|
|
|
alopecia-epilepsy-oligophrenia syndrome of moynahan
|
[NCBI]
|
7.72394e-05
|
|
|
|
PTLS
|
[NCBI]
|
7.72394e-05
|
|
|
|
LS
|
[NCBI]
|
7.66154e-05
|
|
|
|
MAOA
|
[NCBI]
|
7.52251e-05
|
|
|
|
GTS
|
[NCBI]
|
7.47138e-05
|
|
|
|
BWS
|
[NCBI]
|
7.3265e-05
|
|
|
|
FCMD
|
[NCBI]
|
7.31343e-05
|
|
|
|
cystathioninuria
|
[NCBI]
|
7.21589e-05
|
|
|
|
hyperprolinemia, type i
|
[NCBI]
|
7.21589e-05
|
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
7.21221e-05
|
|
|
|
SMS
|
[NCBI]
|
7.20266e-05
|
|
|
|
WT1
|
[NCBI]
|
7.14573e-05
|
|
|
|
walker-warburg syndrome
|
[NCBI]
|
7.10759e-05
|
|
|
|
RB1
|
[NCBI]
|
6.86631e-05
|
|
|
|
HHS
|
[NCBI]
|
6.847e-05
|
|
|
|
KAL2
|
[NCBI]
|
6.81557e-05
|
|
|
|
donohue syndrome
|
[NCBI]
|
6.81557e-05
|
|
|
|
MLASA
|
[NCBI]
|
6.80227e-05
|
|
|
|
ehlers-danlos syndrome, progeroid form
|
[NCBI]
|
6.80227e-05
|
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
6.80227e-05
|
|
|
|
TCF4
|
[NCBI]
|
6.75631e-05
|
|
|
|
AGTR2
|
[NCBI]
|
6.75631e-05
|
|
|
|
RIEG1
|
[NCBI]
|
6.59947e-05
|
|
|
|
CMDR
|
[NCBI]
|
6.5748e-05
|
|
|
|
SCAX1
|
[NCBI]
|
6.5748e-05
|
|
|
|
GCY
|
[NCBI]
|
6.5748e-05
|
|
|
|
SPG23
|
[NCBI]
|
6.5748e-05
|
|
|
|
RCD1
|
[NCBI]
|
6.5748e-05
|
|
|
|
SHFM2
|
[NCBI]
|
6.5748e-05
|
|
|
|
APOE
|
[NCBI]
|
6.53262e-05
|
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
6.5098e-05
|
|
|
|
SCS
|
[NCBI]
|
6.4603e-05
|
|
|
|
NF1
|
[NCBI]
|
6.39796e-05
|
|
|
|
CLN8
|
[NCBI]
|
6.39467e-05
|
|
|
|
chromosome 17q21.31 microdeletion syndrome
|
[NCBI]
|
6.39467e-05
|
|
|
|
AFP
|
[NCBI]
|
6.20489e-05
|
|
|
|
COFS1
|
[NCBI]
|
6.1997e-05
|
|
|
|
MTS
|
[NCBI]
|
6.1997e-05
|
|
|
|
citrullinemia, classic
|
[NCBI]
|
6.19554e-05
|
|
|
|
macrocephaly/autism syndrome
|
[NCBI]
|
6.10504e-05
|
|
|
|
fumarase deficiency
|
[NCBI]
|
6.10504e-05
|
|
|
|
LDHB
|
[NCBI]
|
6.0907e-05
|
|
|
|
HOXA1
|
[NCBI]
|
6.0907e-05
|
|
|
|
MTHFD1
|
[NCBI]
|
6.0907e-05
|
|
|
|
PRPS1
|
[NCBI]
|
6.0907e-05
|
|
|
|
growth deficiency and mental retardation with facial dysmorphism
|
[NCBI]
|
6.07009e-05
|
|
|
|
microcephaly-deafness syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
osteopenia and sparse hair
|
[NCBI]
|
6.07009e-05
|
|
|
|
lethal short-limb skeletal dysplasia, al gazali type
|
[NCBI]
|
6.07009e-05
|
|
|
|
brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
|
[NCBI]
|
6.07009e-05
|
|
|
|
cysteine peptiduria
|
[NCBI]
|
6.07009e-05
|
|
|
|
fragile site 9q32
|
[NCBI]
|
6.07009e-05
|
|
|
|
mental retardation with spastic paraplegia and palmoplantar hyperkeratosis
|
[NCBI]
|
6.07009e-05
|
|
|
|
SPERM
|
[NCBI]
|
6.07009e-05
|
|
|
|
cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and subnormal mentality
|
[NCBI]
|
6.07009e-05
|
|
|
|
spastic paraplegia with precocious puberty
|
[NCBI]
|
6.07009e-05
|
|
|
|
hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
|
[NCBI]
|
6.07009e-05
|
|
|
|
brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay
|
[NCBI]
|
6.07009e-05
|
|
|
|
dent disease 2
|
[NCBI]
|
6.07009e-05
|
|
|
|
microcephaly, facial abnormalities, micromelia, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
craniosynostosis
|
[NCBI]
|
6.07009e-05
|
|
|
|
growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
|
[NCBI]
|
6.07009e-05
|
|
|
|
corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
|
[NCBI]
|
6.07009e-05
|
|
|
|
light fixation seizure syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
mental retardation associated with psoriasis
|
[NCBI]
|
6.07009e-05
|
|
|
|
facial abnormalities, kyphoscoliosis, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
CDLS3
|
[NCBI]
|
6.07009e-05
|
|
|
|
prolactin deficiency with obesity and enlarged testes
|
[NCBI]
|
6.07009e-05
|
|
|
|
ophthalmoplegia, progressive, with scrotal tongue and mental deficiency
|
[NCBI]
|
6.07009e-05
|
|
|
|
myotonia with skeletal abnormalities and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
|
[NCBI]
|
6.07009e-05
|
|
|
|
kapur-toriello syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
symphalangism, c. s. lewis type
|
[NCBI]
|
6.07009e-05
|
|
|
|
ichthyosis with alopecia, eclabion, ectropion, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
vitiligo, progressive, with mental retardation and urethral duplication
|
[NCBI]
|
6.07009e-05
|
|
|
|
prune belly syndrome with pulmonic stenosis, mental retardation, and deafness
|
[NCBI]
|
6.07009e-05
|
|
|
|
microcephaly with digital anomalies
|
[NCBI]
|
6.07009e-05
|
|
|
|
ulnar hypoplasia with mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
pituitary dwarfism with small sella turcica
|
[NCBI]
|
6.07009e-05
|
|
|
|
albinism-microcephaly-digital anomalies syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
reese retinal dysplasia
|
[NCBI]
|
6.07009e-05
|
|
|
|
spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy
|
[NCBI]
|
6.07009e-05
|
|
|
|
hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase
|
[NCBI]
|
6.07009e-05
|
|
|
|
palant cleft palate syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
spondyloepimetaphyseal dysplasia, genevieve type
|
[NCBI]
|
6.07009e-05
|
|
|
|
dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
spondyloepiphyseal dysplasia tarda with characteristic facies
|
[NCBI]
|
6.07009e-05
|
|
|
|
sonoda syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
mental retardation, x-linked, with craniofacial dysmorphism
|
[NCBI]
|
6.07009e-05
|
|
|
|
indolylacroyl glycinuria with mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
gms syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
sao paulo mca/mr syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
neurologic disease, infantile multisystem, with osseous fragility
|
[NCBI]
|
6.07009e-05
|
|
|
|
mental retardation, short stature, facial anomalies, and joint dislocations
|
[NCBI]
|
6.07009e-05
|
|
|
|
cutis verticis gyrata, thyroid aplasia, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
muscular dystrophy, congenital, megaconial type
|
[NCBI]
|
6.07009e-05
|
|
|
|
cantu syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
dwarfism, mental retardation, and eye abnormality
|
[NCBI]
|
6.07009e-05
|
|
|
|
hair whorl
|
[NCBI]
|
6.07009e-05
|
|
|
|
microcephaly with cervical spine fusion anomalies
|
[NCBI]
|
6.07009e-05
|
|
|
|
spastic paraplegia, ataxia, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
mental retardation, obesity, mandibular prognathism, and eye and skin anomalies
|
[NCBI]
|
6.07009e-05
|
|
|
|
gluteal muscles, absence of
|
[NCBI]
|
6.07009e-05
|
|
|
|
t-substance anomaly
|
[NCBI]
|
6.07009e-05
|
|
|
|
ehlers-danlos syndrome, beasley-cohen type
|
[NCBI]
|
6.07009e-05
|
|
|
|
chondrodysplasia calcificans metaphysealis
|
[NCBI]
|
6.07009e-05
|
|
|
|
harrod syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness
|
[NCBI]
|
6.07009e-05
|
|
|
|
spastic quadriplegia, retinitis pigmentosa, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
hyperlysinuria with hyperammonemia
|
[NCBI]
|
6.07009e-05
|
|
|
|
mental retardation syndrome, belgian type
|
[NCBI]
|
6.07009e-05
|
|
|
|
epilepsy-telangiectasia
|
[NCBI]
|
6.07009e-05
|
|
|
|
anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
|
[NCBI]
|
6.07009e-05
|
|
|
|
craniosynostosis-mental retardation-clefting syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
ectodermal dysplasia with mental retardation and syndactyly
|
[NCBI]
|
6.07009e-05
|
|
|
|
cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
schimke x-linked mental retardation syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration
|
[NCBI]
|
6.07009e-05
|
|
|
|
lambotte syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
robin sequence with distinctive facial appearance and brachydactyly
|
[NCBI]
|
6.07009e-05
|
|
|
|
cerebellar hypoplasia with endosteal sclerosis
|
[NCBI]
|
6.07009e-05
|
|
|
|
whispering dysphonia, hereditary
|
[NCBI]
|
6.07009e-05
|
|
|
|
ichthyosis, mental retardation, dwarfism, and renal impairment
|
[NCBI]
|
6.07009e-05
|
|
|
|
spondyloepiphyseal dysplasia tarda with mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
pseudouridinuria and mental defect
|
[NCBI]
|
6.07009e-05
|
|
|
|
marfanoid habitus with microcephaly and glomerulonephritis
|
[NCBI]
|
6.07009e-05
|
|
|
|
blepharophimosis with facial and genital anomalies and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
progeroid facial appearance with hand anomalies
|
[NCBI]
|
6.07009e-05
|
|
|
|
hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses
|
[NCBI]
|
6.07009e-05
|
|
|
|
scarf syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
momo syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification
|
[NCBI]
|
6.07009e-05
|
|
|
|
multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism
|
[NCBI]
|
6.07009e-05
|
|
|
|
RESDX
|
[NCBI]
|
6.07009e-05
|
|
|
|
growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia
|
[NCBI]
|
6.07009e-05
|
|
|
|
mental retardation, microcephaly, epilepsy, and coarse face
|
[NCBI]
|
6.07009e-05
|
|
|
|
MCOPCT2
|
[NCBI]
|
6.07009e-05
|
|
|
|
hall-riggs mental retardation syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
agonadism, xy, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations
|
[NCBI]
|
6.07009e-05
|
|
|
|
anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
osteolysis syndrome, recessive
|
[NCBI]
|
6.07009e-05
|
|
|
|
dystonia with ringbinden
|
[NCBI]
|
6.07009e-05
|
|
|
|
acrorenal syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
dysmyelination with jaundice
|
[NCBI]
|
6.07009e-05
|
|
|
|
trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
|
[NCBI]
|
6.07009e-05
|
|
|
|
fallot complex with severe mental and growth retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
spinal muscular atrophy with mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
MRX14
|
[NCBI]
|
6.07009e-05
|
|
|
|
scaphocephaly, maxillary retrusion, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
amyotrophic dystonic paraplegia
|
[NCBI]
|
6.07009e-05
|
|
|
|
microcephaly with simplified gyral pattern
|
[NCBI]
|
6.07009e-05
|
|
|
|
ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
|
[NCBI]
|
6.07009e-05
|
|
|
|
aortic arch anomaly with peculiar facies and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
brachioskeletogenital syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
emphysema, congenital, with deafness, penoscrotal web, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
aural atresia, multiple congenital anomalies, and mental retardation
|
[NCBI]
|
6.07009e-05
|
|
|
|
wolff mental retardation syndrome
|
[NCBI]
|
6.07009e-05
|
|
|
|
growth retardation, small and puffy hands and feet, and eczema
|
[NCBI]
|
6.07009e-05
|
|
|
|
mental retardation, keratoconus, febrile seizures, and sinoatrial block
|
[NCBI]
|
6.07009e-05
|
|
|
|
dysautonomia-like disorder
|
[NCBI]
|
6.07009e-05
|
|
|
|
muscular dystrophy, congenital, type 1d
|
[NCBI]
|
6.07009e-05
|
|
|
|
DPYD
|
[NCBI]
|
5.95707e-05
|
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
5.91303e-05
|
|
|
|
HSD17B10
|
[NCBI]
|
5.82859e-05
|
|
|
|
MCPH1
|
[NCBI]
|
5.82859e-05
|
|
|
|
DYRK1A
|
[NCBI]
|
5.82859e-05
|
|
|
|
BBS4
|
[NCBI]
|
5.82859e-05
|
|
|
|
PEX12
|
[NCBI]
|
5.82859e-05
|
|
|
|
SLC1A3
|
[NCBI]
|
5.82859e-05
|
|
|
|
SOX3
|
[NCBI]
|
5.82859e-05
|
|
|
|
EEC1
|
[NCBI]
|
5.72206e-05
|
|
|
|
ALD
|
[NCBI]
|
5.69546e-05
|
|
|
|
FGD1
|
[NCBI]
|
5.59831e-05
|
|
|
|
keutel syndrome
|
[NCBI]
|
5.54595e-05
|
|
|
|
hydroxyacyl-coa dehydrogenase ii deficiency
|
[NCBI]
|
5.54595e-05
|
|
|
|
carpenter syndrome
|
[NCBI]
|
5.54595e-05
|
|
|
|
PGK1
|
[NCBI]
|
5.5423e-05
|
|
|
|
ESD
|
[NCBI]
|
5.46662e-05
|
|
|
|
JBS
|
[NCBI]
|
5.3987e-05
|
|
|
|
CA2
|
[NCBI]
|
5.39303e-05
|
|
|
|
neuraminidase deficiency
|
[NCBI]
|
5.37087e-05
|
|
|
|
CDC42BPA
|
[NCBI]
|
5.26574e-05
|
|
|
|
PAFAH1B3
|
[NCBI]
|
5.26574e-05
|
|
|
|
DGKQ
|
[NCBI]
|
5.26574e-05
|
|
|
|
LRPAP1
|
[NCBI]
|
5.26574e-05
|
|
|
|
IDH1
|
[NCBI]
|
5.26574e-05
|
|
|
|
THRAP2
|
[NCBI]
|
5.26574e-05
|
|
|
|
ACAT2
|
[NCBI]
|
5.26574e-05
|
|
|
|
SRPX2
|
[NCBI]
|
5.26574e-05
|
|
|
|
CTNND2
|
[NCBI]
|
5.26574e-05
|
|
|
|
MFAP4
|
[NCBI]
|
5.26574e-05
|
|
|
|
MAGED2
|
[NCBI]
|
5.26574e-05
|
|
|
|
DIP2B
|
[NCBI]
|
5.26574e-05
|
|
|
|
CC2D1A
|
[NCBI]
|
5.26574e-05
|
|
|
|
C22ORF1
|
[NCBI]
|
5.26574e-05
|
|
|
|
STK25
|
[NCBI]
|
5.26574e-05
|
|
|
|
B3GALTL
|
[NCBI]
|
5.26574e-05
|
|
|
|
COTL1
|
[NCBI]
|
5.26574e-05
|
|
|
|
NUFIP1
|
[NCBI]
|
5.26574e-05
|
|
|
|
mental retardation, x-linked, with short stature
|
[NCBI]
|
5.26574e-05
|
|
|
|
IL1RAPL2
|
[NCBI]
|
5.26574e-05
|
|
|
|
FBXL16
|
[NCBI]
|
5.26574e-05
|
|
|
|
SETMAR
|
[NCBI]
|
5.26574e-05
|
|
|
|
SRGAP3
|
[NCBI]
|
5.26574e-05
|
|
|
|
PARVB
|
[NCBI]
|
5.26574e-05
|
|
|
|
ras-like gtpase gene
|
[NCBI]
|
5.26574e-05
|
|
|
|
MACROD2
|
[NCBI]
|
5.26574e-05
|
|
|
|
APPL2
|
[NCBI]
|
5.26574e-05
|
|
|
|
DIP2C
|
[NCBI]
|
5.26574e-05
|
|
|
|
MRAP
|
[NCBI]
|
5.26574e-05
|
|
|
|
DIP2A
|
[NCBI]
|
5.26574e-05
|
|
|
|
DLGAP2
|
[NCBI]
|
5.26574e-05
|
|
|
|
SHMT1
|
[NCBI]
|
5.26574e-05
|
|
|
|
KIAA1279
|
[NCBI]
|
5.26574e-05
|
|
|
|
mental retardation, x-linked, south african type
|
[NCBI]
|
5.26574e-05
|
|
|
|
FLRT3
|
[NCBI]
|
5.26574e-05
|
|
|
|
TRPC5
|
[NCBI]
|
5.26574e-05
|
|
|
|
MBD5
|
[NCBI]
|
5.26574e-05
|
|
|
|
FLII
|
[NCBI]
|
5.26574e-05
|
|
|
|
COPS3
|
[NCBI]
|
5.26574e-05
|
|
|
|
MAN2B1
|
[NCBI]
|
5.20794e-05
|
|
|
|
DCX
|
[NCBI]
|
5.20794e-05
|
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
5.16726e-05
|
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
5.14478e-05
|
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
5.14478e-05
|
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
5.14478e-05
|
|
|
|
AT
|
[NCBI]
|
5.09372e-05
|
|
|
|
hyperpipecolatemia
|
[NCBI]
|
5.08091e-05
|
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
5.08091e-05
|
|
|
|
elejalde disease
|
[NCBI]
|
5.08091e-05
|
|
|
|
LPI
|
[NCBI]
|
5.0209e-05
|
|
|
|
SPG2
|
[NCBI]
|
4.94878e-05
|
|
|
|
RAB27A
|
[NCBI]
|
4.88499e-05
|
|
|
|
MEB
|
[NCBI]
|
4.87372e-05
|
|
|
|
MBP
|
[NCBI]
|
4.86986e-05
|
|
|
|
TS
|
[NCBI]
|
4.86364e-05
|
|
|
|
F12
|
[NCBI]
|
4.74236e-05
|
|
|
|
peters-plus syndrome
|
[NCBI]
|
4.68414e-05
|
|
|
|
LIS1
|
[NCBI]
|
4.68414e-05
|
|
|
|
TRPS1
|
[NCBI]
|
4.55061e-05
|
|
|
|
NGFB
|
[NCBI]
|
4.51677e-05
|
|
|
|
SVAS
|
[NCBI]
|
4.49459e-05
|
|
|
|
orotic aciduria i
|
[NCBI]
|
4.48644e-05
|
|
|
|
DMD
|
[NCBI]
|
4.38584e-05
|
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
4.33926e-05
|
|
|
|
LISX1
|
[NCBI]
|
4.33926e-05
|
|
|
|
MCPH5
|
[NCBI]
|
4.33926e-05
|
|
|
|
CLN8
|
[NCBI]
|
4.33926e-05
|
|
|
|
muenke syndrome
|
[NCBI]
|
4.33926e-05
|
|
|
|
GLDC
|
[NCBI]
|
4.26196e-05
|
|
|
|
MODY
|
[NCBI]
|
4.08804e-05
|
|
|
|
DHCR7
|
[NCBI]
|
4.06225e-05
|
|
|
|
PEPD
|
[NCBI]
|
4.06225e-05
|
|
|
|
GFAP
|
[NCBI]
|
4.04882e-05
|
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
4.03516e-05
|
|
|
|
hyperlysinemia
|
[NCBI]
|
4.03516e-05
|
|
|
|
HYPX
|
[NCBI]
|
3.99816e-05
|
|
|
|
omodysplasia, generalized form
|
[NCBI]
|
3.99816e-05
|
|
|
|
laurin-sandrow syndrome
|
[NCBI]
|
3.99816e-05
|
|
|
|
AK1
|
[NCBI]
|
3.97015e-05
|
|
|
|
ATR
|
[NCBI]
|
3.97015e-05
|
|
|
|
EHMT1
|
[NCBI]
|
3.89265e-05
|
|
|
|
SMC3
|
[NCBI]
|
3.89265e-05
|
|
|
|
glutathionuria
|
[NCBI]
|
3.89265e-05
|
|
|
|
OMG
|
[NCBI]
|
3.89265e-05
|
|
|
|
GIT1
|
[NCBI]
|
3.89265e-05
|
|
|
|
UPF3B
|
[NCBI]
|
3.89265e-05
|
|
|
|
FGF13
|
[NCBI]
|
3.89265e-05
|
|
|
|
RCN1
|
[NCBI]
|
3.89265e-05
|
|
|
|
MRX49
|
[NCBI]
|
3.89265e-05
|
|
|
|
DOCK8
|
[NCBI]
|
3.89265e-05
|
|
|
|
ZNF674
|
[NCBI]
|
3.89265e-05
|
|
|
|
SOX8
|
[NCBI]
|
3.89265e-05
|
|
|
|
UBR1
|
[NCBI]
|
3.89265e-05
|
|
|
|
ataxin 2-binding protein 1
|
[NCBI]
|
3.89265e-05
|
|
|
|
PFKP
|
[NCBI]
|
3.89265e-05
|
|
|
|
GPM6B
|
[NCBI]
|
3.89265e-05
|
|
|
|
KCNJ12
|
[NCBI]
|
3.89265e-05
|
|
|
|
MGAT2
|
[NCBI]
|
3.89265e-05
|
|
|
|
acidic cluster protein, 33-kd
|
[NCBI]
|
3.89265e-05
|
|
|
|
LLGL1
|
[NCBI]
|
3.89265e-05
|
|
|
|
RPS6KA6
|
[NCBI]
|
3.89265e-05
|
|
|
|
GTF2I
|
[NCBI]
|
3.89265e-05
|
|
|
|
CLK2
|
[NCBI]
|
3.89265e-05
|
|
|
|
kiaa0442
|
[NCBI]
|
3.89265e-05
|
|
|
|
APPL1
|
[NCBI]
|
3.89265e-05
|
|
|
|
DMRT2
|
[NCBI]
|
3.89265e-05
|
|
|
|
CHAF1B
|
[NCBI]
|
3.89265e-05
|
|
|
|
GPC1
|
[NCBI]
|
3.89265e-05
|
|
|
|
GPM6A
|
[NCBI]
|
3.89265e-05
|
|
|
|
antigen defined by monoclonal antibody f10.44.2
|
[NCBI]
|
3.89265e-05
|
|
|
|
SC5DL
|
[NCBI]
|
3.89265e-05
|
|
|
|
SMC1A
|
[NCBI]
|
3.89265e-05
|
|
|
|
ALPI
|
[NCBI]
|
3.89265e-05
|
|
|
|
DRG2
|
[NCBI]
|
3.89265e-05
|
|
|
|
ATOH1
|
[NCBI]
|
3.89265e-05
|
|
|
|
mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor
|
[NCBI]
|
3.86161e-05
|
|
|
|
ABSD
|
[NCBI]
|
3.86161e-05
|
|
|
|
piebald trait with neurologic defects
|
[NCBI]
|
3.86161e-05
|
|
|
|
deafness, cochlear, with myopia and intellectual impairment
|
[NCBI]
|
3.86161e-05
|
|
|
|
plantar lipomatosis, unusual facies, and developmental delay
|
[NCBI]
|
3.86161e-05
|
|
|
|
trichodental dysplasia
|
[NCBI]
|
3.86161e-05
|
|
|
|
aortic arch interruption, facial palsy, and retinal coloboma
|
[NCBI]
|
3.86161e-05
|
|
|
|
patterson pseudoleprechaunism syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
cahmr syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
chromosome 9q subtelomeric deletion syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
puerto rican infant hypotonia syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
subaortic stenosis--short stature syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
XMRE
|
[NCBI]
|
3.86161e-05
|
|
|
|
MRXS14
|
[NCBI]
|
3.86161e-05
|
|
|
|
ataxia-microcephaly-cataract syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
|
[NCBI]
|
3.86161e-05
|
|
|
|
mast syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
devriendt syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
convulsive disorder, familial, with prenatal or early onset
|
[NCBI]
|
3.86161e-05
|
|
|
|
craniofacial dysmorphism with ocular coloboma, absent corpus callosum, and aortic dilatation
|
[NCBI]
|
3.86161e-05
|
|
|
|
pterygium syndrome, multiple, autosomal dominant
|
[NCBI]
|
3.86161e-05
|
|
|
|
stocco dos santos x-linked mental retardation syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
temtamy preaxial brachydactyly syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
williams-beuren region duplication syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
urocanase deficiency
|
[NCBI]
|
3.86161e-05
|
|
|
|
tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities
|
[NCBI]
|
3.86161e-05
|
|
|
|
noonan syndrome 3
|
[NCBI]
|
3.86161e-05
|
|
|
|
pellagra-like syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
hydrocephalus, skeletal anomalies, and mental disturbance
|
[NCBI]
|
3.86161e-05
|
|
|
|
corpus callosum, agenesis of, with abnormal genitalia
|
[NCBI]
|
3.86161e-05
|
|
|
|
microcephaly-cardiomyopathy
|
[NCBI]
|
3.86161e-05
|
|
|
|
dk phocomelia syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
epilepsy, myoclonic, x-linked, with mental retardation and spasticity
|
[NCBI]
|
3.86161e-05
|
|
|
|
biemond syndrome ii
|
[NCBI]
|
3.86161e-05
|
|
|
|
MRX45
|
[NCBI]
|
3.86161e-05
|
|
|
|
faciocardiorenal syndrome
|
[NCBI]
|
3.86161e-05
|
|
|
|
hypomyelination and congenital cataract
|
[NCBI]
|
3.86161e-05
|
|
|
|
mental retardation, x-linked, with brachydactyly and macroglossia
|
[NCBI]
|
3.86161e-05
|
|
|
|
suprabulbar paresis, congenital
|
[NCBI]
|
3.86161e-05
|
|
|
|
hyper-beta-alaninemia
|
[NCBI]
|
3.86161e-05
|
|
|
|
MRX93
|
[NCBI]
|
3.86161e-05
|
|
|
|
dandy-walker malformation with postaxial polydactyly
|
[NCBI]
|
3.86161e-05
|
|
|
|
MRXS10
|
[NCBI]
|
3.86161e-05
|
|
|
|
cleft palate, cardiac defect, genital anomalies, and ectrodactyly
|
[NCBI]
|
3.86161e-05
|
|
|
|
prader-willi habitus, osteopenia, and camptodactyly
|
[NCBI]
|
3.86161e-05
|
|
|
|
dextrocardia with unusual facies and microphthalmia
|
[NCBI]
|
3.86161e-05
|
|
|
|
mental and growth retardation with amblyopia
|
[NCBI]
|
3.86161e-05
|
|
|
|
epileptic encephalopathy, lennox-gastaut type
|
[NCBI]
|
3.86161e-05
|
|
|
|
GS2
|
[NCBI]
|
3.76398e-05
|
|
|
|
ERCC2
|
[NCBI]
|
3.57017e-05
|
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
3.51993e-05
|
|
|
|
CRS1
|
[NCBI]
|
3.51993e-05
|
|
|
|
WHSC2
|
[NCBI]
|
3.37749e-05
|
|
|
|
NLGN3
|
[NCBI]
|
3.37749e-05
|
|
|
|
NLGN4
|
[NCBI]
|
3.37749e-05
|
|
|
|
MCCC1
|
[NCBI]
|
3.37749e-05
|
|
|
|
ATP6AP2
|
[NCBI]
|
3.37749e-05
|
|
|
|
IDH3G
|
[NCBI]
|
3.37749e-05
|
|
|
|
GTF2H1
|
[NCBI]
|
3.37749e-05
|
|
|
|
NFIA
|
[NCBI]
|
3.37749e-05
|
|
|
|
KCNC3
|
[NCBI]
|
3.37749e-05
|
|
|
|
PRSS12
|
[NCBI]
|
3.37749e-05
|
|
|
|
STRA6
|
[NCBI]
|
3.37749e-05
|
|
|
|
ZNF81
|
[NCBI]
|
3.37749e-05
|
|
|
|
CDC25B
|
[NCBI]
|
3.37749e-05
|
|
|
|
GRIK2
|
[NCBI]
|
3.37749e-05
|
|
|
|
MTTR
|
[NCBI]
|
3.37749e-05
|
|
|
|
AN2
|
[NCBI]
|
3.3768e-05
|
|
|
|
leopard syndrome 1
|
[NCBI]
|
3.32042e-05
|
|
|
|
morquio syndrome b
|
[NCBI]
|
3.29864e-05
|
|
|
|
HPE2
|
[NCBI]
|
3.29864e-05
|
|
|
|
AHC
|
[NCBI]
|
3.19692e-05
|
|
|
|
GC
|
[NCBI]
|
3.13085e-05
|
|
|
|
OPD1
|
[NCBI]
|
3.0967e-05
|
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
3.07867e-05
|
|
|
|
PCA
|
[NCBI]
|
3.07154e-05
|
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
3.07154e-05
|
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
3.07154e-05
|
|
|
|
mucopolysaccharidoses, unclassified types
|
[NCBI]
|
3.05218e-05
|
|
|
|
cerebellar ataxia and ectodermal dysplasia
|
[NCBI]
|
3.05218e-05
|
|
|
|
hypertrichosis, anterior cervical
|
[NCBI]
|
3.05218e-05
|
|
|
|
DTGA1
|
[NCBI]
|
3.05218e-05
|
|
|
|
acrocephalopolysyndactyly type iv
|
[NCBI]
|
3.05218e-05
|
|
|
|
craniofacial dyssynostosis with short stature
|
[NCBI]
|
3.05218e-05
|
|
|
|
craniotelencephalic dysplasia
|
[NCBI]
|
3.05218e-05
|
|
|
|
microcephaly, corpus callosum dysgenesis, and cleft lip/palate
|
[NCBI]
|
3.05218e-05
|
|
|
|
hypertryptophanemia, familial
|
[NCBI]
|
3.05218e-05
|
|
|
|
GUD
|
[NCBI]
|
3.05218e-05
|
|
|
|
3-@hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
3.05218e-05
|
|
|
|
corpus callosum, partial agenesis of, x-linked
|
[NCBI]
|
3.05218e-05
|
|
|
|
coloboma, uveal, with cleft lip and palate and mental retardation
|
[NCBI]
|
3.05218e-05
|
|
|
|
syringomas, multiple
|
[NCBI]
|
3.05218e-05
|
|
|
|
hydrocephalus with cerebellar agenesis
|
[NCBI]
|
3.05218e-05
|
|
|
|
hutterite cerebroosteonephrodysplasia syndrome
|
[NCBI]
|
3.05218e-05
|
|
|
|
malonyl-coa decarboxylase deficiency
|
[NCBI]
|
3.05218e-05
|
|
|
|
dicarboxylicamino aciduria
|
[NCBI]
|
3.05218e-05
|
|
|
|
JBTS5
|
[NCBI]
|
3.05218e-05
|
|
|
|
hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy
|
[NCBI]
|
3.05218e-05
|
|
|
|
scalp defects and postaxial polydactyly
|
[NCBI]
|
3.05218e-05
|
|
|
|
KPC
|
[NCBI]
|
3.05218e-05
|
|
|
|
arthrogryposis multiplex congenita with whistling face
|
[NCBI]
|
3.05218e-05
|
|
|
|
siderius x-linked mental retardation syndrome
|
[NCBI]
|
3.05218e-05
|
|
|
|
chromosome xp11.3 deletion syndrome
|
[NCBI]
|
3.05218e-05
|
|
|
|
split-foot deformity with mandibulofacial dysostosis
|
[NCBI]
|
3.05218e-05
|
|
|
|
lowry-maclean syndrome
|
[NCBI]
|
3.05218e-05
|
|
|
|
brachydactyly, preaxial, with hallux varus and thumb abduction
|
[NCBI]
|
3.05218e-05
|
|
|
|
fitzsimmons-guilbert syndrome
|
[NCBI]
|
3.05218e-05
|
|
|
|
retinohepatoendocrinologic syndrome
|
[NCBI]
|
3.05218e-05
|
|
|
|
band heterotopia of brain
|
[NCBI]
|
3.05218e-05
|
|
|
|
agonadism with multiple internal malformations
|
[NCBI]
|
3.05218e-05
|
|
|
|
DMRT1
|
[NCBI]
|
3.04469e-05
|
|
|
|
SGNE1
|
[NCBI]
|
3.04469e-05
|
|
|
|
PEPC
|
[NCBI]
|
3.04469e-05
|
|
|
|
FKBP6
|
[NCBI]
|
3.04469e-05
|
|
|
|
BBS2
|
[NCBI]
|
3.04469e-05
|
|
|
|
MCC
|
[NCBI]
|
3.04469e-05
|
|
|
|
PHF8
|
[NCBI]
|
3.04469e-05
|
|
|
|
CCNB1
|
[NCBI]
|
3.04469e-05
|
|
|
|
DLG1
|
[NCBI]
|
3.04469e-05
|
|
|
|
ARL6
|
[NCBI]
|
3.04469e-05
|
|
|
|
UBE2A
|
[NCBI]
|
3.04469e-05
|
|
|
|
JK
|
[NCBI]
|
3.04469e-05
|
|
|
|
SHOX
|
[NCBI]
|
2.97274e-05
|
|
|
|
MFS
|
[NCBI]
|
2.93731e-05
|
|
|
|
AIS
|
[NCBI]
|
2.9254e-05
|
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
2.91143e-05
|
|
|
|
leiomyoma, hereditary multiple, of skin
|
[NCBI]
|
2.91143e-05
|
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
2.91143e-05
|
|
|
|
OA1
|
[NCBI]
|
2.87518e-05
|
|
|
|
DA2A
|
[NCBI]
|
2.85661e-05
|
|
|
|
HCH
|
[NCBI]
|
2.85661e-05
|
|
|
|
CFTR
|
[NCBI]
|
2.83089e-05
|
|
|
|
MTATP6
|
[NCBI]
|
2.82851e-05
|
|
|
|
BID
|
[NCBI]
|
2.7985e-05
|
|
|
|
ALDH4A1
|
[NCBI]
|
2.7985e-05
|
|
|
|
CSF2RA
|
[NCBI]
|
2.7985e-05
|
|
|
|
MSN
|
[NCBI]
|
2.7985e-05
|
|
|
|
AHCY
|
[NCBI]
|
2.7985e-05
|
|
|
|
DPYS
|
[NCBI]
|
2.7985e-05
|
|
|
|
ALDH5A1
|
[NCBI]
|
2.7985e-05
|
|
|
|
FXR1
|
[NCBI]
|
2.7985e-05
|
|
|
|
RCC1
|
[NCBI]
|
2.7985e-05
|
|
|
|
CHRND
|
[NCBI]
|
2.7985e-05
|
|
|
|
DIAPH2
|
[NCBI]
|
2.7985e-05
|
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
2.76657e-05
|
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
2.74067e-05
|
|
|
|
OPPG
|
[NCBI]
|
2.74067e-05
|
|
|
|
TSC1
|
[NCBI]
|
2.69608e-05
|
|
|
|
PCD
|
[NCBI]
|
2.68927e-05
|
|
|
|
CDPX2
|
[NCBI]
|
2.65196e-05
|
|
|
|
TBS
|
[NCBI]
|
2.65196e-05
|
|
|
|
TOP3A
|
[NCBI]
|
2.60332e-05
|
|
|
|
AOF2
|
[NCBI]
|
2.60332e-05
|
|
|
|
ASPM
|
[NCBI]
|
2.60332e-05
|
|
|
|
LGR8
|
[NCBI]
|
2.60332e-05
|
|
|
|
HADH
|
[NCBI]
|
2.60332e-05
|
|
|
|
PAK2
|
[NCBI]
|
2.60332e-05
|
|
|
|
FXR2
|
[NCBI]
|
2.60332e-05
|
|
|
|
NETH
|
[NCBI]
|
2.58265e-05
|
|
|
|
HSAN2
|
[NCBI]
|
2.58265e-05
|
|
|
|
insulin-like growth factor i deficiency
|
[NCBI]
|
2.54013e-05
|
|
|
|
OODD
|
[NCBI]
|
2.54013e-05
|
|
|
|
HPE5
|
[NCBI]
|
2.54013e-05
|
|
|
|
LIS2
|
[NCBI]
|
2.54013e-05
|
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
2.54013e-05
|
|
|
|
macrocephaly, benign familial
|
[NCBI]
|
2.54013e-05
|
|
|
|
choroideremia with deafness and obesity
|
[NCBI]
|
2.54013e-05
|
|
|
|
charge-like syndrome, x-linked
|
[NCBI]
|
2.54013e-05
|
|
|
|
furlong syndrome: fs
|
[NCBI]
|
2.54013e-05
|
|
|
|
arachnoid cysts, intracranial
|
[NCBI]
|
2.54013e-05
|
|
|
|
fragile site 17p12
|
[NCBI]
|
2.54013e-05
|
|
|
|
cardiomyopathy, congestive, with hypergonadotropic hypogonadism
|
[NCBI]
|
2.54013e-05
|
|
|
|
epidermolysis bullosa, late-onset localized junctional, with mental retardation
|
[NCBI]
|
2.54013e-05
|
|
|
|
nevo syndrome
|
[NCBI]
|
2.54013e-05
|
|
|
|
lathosterolosis
|
[NCBI]
|
2.54013e-05
|
|
|
|
SCA13
|
[NCBI]
|
2.54013e-05
|
|
|
|
pachygyria with mental retardation and seizures
|
[NCBI]
|
2.54013e-05
|
|
|
|
SPG20
|
[NCBI]
|
2.54013e-05
|
|
|
|
anal atresia, hypospadias, and penoscrotal inversion
|
[NCBI]
|
2.54013e-05
|
|
|
|
coach syndrome
|
[NCBI]
|
2.54013e-05
|
|
|
|
spongiform encephalopathy with neuropsychiatric features
|
[NCBI]
|
2.54013e-05
|
|
|
|
rett syndrome, atypical, cdkl5-related
|
[NCBI]
|
2.54013e-05
|
|
|
|
PKDTS
|
[NCBI]
|
2.54013e-05
|
|
|
|
roifman syndrome
|
[NCBI]
|
2.54013e-05
|
|
|
|
simpson-golabi-behmel syndrome, type 2
|
[NCBI]
|
2.54013e-05
|
|
|
|
ATCAY
|
[NCBI]
|
2.54013e-05
|
|
|
|
monosomy 9p syndrome
|
[NCBI]
|
2.54013e-05
|
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
2.54013e-05
|
|
|
|
oculopalatoskeletal syndrome
|
[NCBI]
|
2.54013e-05
|
|
|
|
HRAS
|
[NCBI]
|
2.49732e-05
|
|
|
|
cystinuria
|
[NCBI]
|
2.46279e-05
|
|
|
|
HPD
|
[NCBI]
|
2.44186e-05
|
|
|
|
SUZ12
|
[NCBI]
|
2.44186e-05
|
|
|
|
NHS
|
[NCBI]
|
2.44186e-05
|
|
|
|
CCNA2
|
[NCBI]
|
2.44186e-05
|
|
|
|
AUH
|
[NCBI]
|
2.44186e-05
|
|
|
|
CDC25A
|
[NCBI]
|
2.44186e-05
|
|
|
|
MTTF
|
[NCBI]
|
2.44186e-05
|
|
|
|
BUB1B
|
[NCBI]
|
2.44186e-05
|
|
|
|
TFAP2C
|
[NCBI]
|
2.44186e-05
|
|
|
|
immunoosseous dysplasia, schimke type
|
[NCBI]
|
2.43591e-05
|
|
|
|
FHM2
|
[NCBI]
|
2.43591e-05
|
|
|
|
CDPX1
|
[NCBI]
|
2.43591e-05
|
|
|
|
PC
|
[NCBI]
|
2.3212e-05
|
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
2.32069e-05
|
|
|
|
CDC25C
|
[NCBI]
|
2.30434e-05
|
|
|
|
GRIA3
|
[NCBI]
|
2.30434e-05
|
|
|
|
AHI1
|
[NCBI]
|
2.30434e-05
|
|
|
|
PAPSS2
|
[NCBI]
|
2.30434e-05
|
|
|
|
ALDOA
|
[NCBI]
|
2.30434e-05
|
|
|
|
HLCS
|
[NCBI]
|
2.30434e-05
|
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
2.30434e-05
|
|
|
|
MTCO3
|
[NCBI]
|
2.30434e-05
|
|
|
|
UBB
|
[NCBI]
|
2.30434e-05
|
|
|
|
NAGA
|
[NCBI]
|
2.30434e-05
|
|
|
|
MEG3
|
[NCBI]
|
2.30434e-05
|
|
|
|
thyroid hormonogenesis, genetic defect in, 2a
|
[NCBI]
|
2.29922e-05
|
|
|
|
AIED
|
[NCBI]
|
2.29922e-05
|
|
|
|
alexander disease
|
[NCBI]
|
2.29922e-05
|
|
|
|
KSS
|
[NCBI]
|
2.20006e-05
|
|
|
|
DSCR1
|
[NCBI]
|
2.18474e-05
|
|
|
|
TBX3
|
[NCBI]
|
2.18474e-05
|
|
|
|
SACS
|
[NCBI]
|
2.18474e-05
|
|
|
|
COL4A1
|
[NCBI]
|
2.18474e-05
|
|
|
|
PVRL1
|
[NCBI]
|
2.18474e-05
|
|
|
|
LARGE
|
[NCBI]
|
2.18474e-05
|
|
|
|
MAPK7
|
[NCBI]
|
2.18474e-05
|
|
|
|
AGS1
|
[NCBI]
|
2.17155e-05
|
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
2.17155e-05
|
|
|
|
homocarnosinosis
|
[NCBI]
|
2.16932e-05
|
|
|
|
fragile site 10q25
|
[NCBI]
|
2.16932e-05
|
|
|
|
larynx, congenital partial atresia of
|
[NCBI]
|
2.16932e-05
|
|
|
|
CDD
|
[NCBI]
|
2.16932e-05
|
|
|
|
jejunal atresia with microcephaly and ocular anomalies
|
[NCBI]
|
2.16932e-05
|
|
|
|
progeroid short stature with pigmented nevi
|
[NCBI]
|
2.16932e-05
|
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
2.16932e-05
|
|
|
|
phosphoglycerate dehydrogenase deficiency
|
[NCBI]
|
2.16932e-05
|
|
|
|
POF2A
|
[NCBI]
|
2.16932e-05
|
|
|
|
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
|
[NCBI]
|
2.16932e-05
|
|
|
|
hemangiomas, cavernous, of face and supraumbilical midline raphe
|
[NCBI]
|
2.16932e-05
|
|
|
|
AVSD2
|
[NCBI]
|
2.16932e-05
|
|
|
|
SHEP2
|
[NCBI]
|
2.16932e-05
|
|
|
|
ATS
|
[NCBI]
|
2.12472e-05
|
|
|
|
ACHE
|
[NCBI]
|
2.11491e-05
|
|
|
|
ELN
|
[NCBI]
|
2.10495e-05
|
|
|
|
PGM1
|
[NCBI]
|
2.07905e-05
|
|
|
|
MYO5A
|
[NCBI]
|
2.07905e-05
|
|
|
|
LAMP2
|
[NCBI]
|
2.07905e-05
|
|
|
|
C10ORF2
|
[NCBI]
|
2.07905e-05
|
|
|
|
KRAS
|
[NCBI]
|
2.07651e-05
|
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
2.05201e-05
|
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
2.04764e-05
|
|
|
|
meningioma, familial
|
[NCBI]
|
2.04764e-05
|
|
|
|
ALGS1
|
[NCBI]
|
1.98747e-05
|
|
|
|
FLI1
|
[NCBI]
|
1.98446e-05
|
|
|
|
SRA2
|
[NCBI]
|
1.98446e-05
|
|
|
|
MN
|
[NCBI]
|
1.98446e-05
|
|
|
|
SCN8A
|
[NCBI]
|
1.98446e-05
|
|
|
|
TIMM8A
|
[NCBI]
|
1.98446e-05
|
|
|
|
XPA
|
[NCBI]
|
1.97326e-05
|
|
|
|
argininemia
|
[NCBI]
|
1.93986e-05
|
|
|
|
OCRL
|
[NCBI]
|
1.89895e-05
|
|
|
|
ZNF198
|
[NCBI]
|
1.89895e-05
|
|
|
|
HEPH
|
[NCBI]
|
1.89895e-05
|
|
|
|
cleft lip/palate with abnormal thumbs and microcephaly
|
[NCBI]
|
1.8817e-05
|
|
|
|
desmosterolosis
|
[NCBI]
|
1.8817e-05
|
|
|
|
encephalopathy, ethylmalonic
|
[NCBI]
|
1.8817e-05
|
|
|
|
bowing of legs, anterior, with dwarfism
|
[NCBI]
|
1.8817e-05
|
|
|
|
fibromatosis, gingival, with hypertrichosis
|
[NCBI]
|
1.8817e-05
|
|
|
|
SHFM4
|
[NCBI]
|
1.8817e-05
|
|
|
|
dystonia, familial, with visual failure and striatal lucencies
|
[NCBI]
|
1.8817e-05
|
|
|
|
TRPS3
|
[NCBI]
|
1.8817e-05
|
|
|
|
mevalonic aciduria
|
[NCBI]
|
1.8817e-05
|
|
|
|
AHO
|
[NCBI]
|
1.85707e-05
|
|
|
|
TSC2
|
[NCBI]
|
1.84344e-05
|
|
|
|
HSS
|
[NCBI]
|
1.83442e-05
|
|
|
|
AP3B1
|
[NCBI]
|
1.821e-05
|
|
|
|
CHRNA4
|
[NCBI]
|
1.821e-05
|
|
|
|
ATF4
|
[NCBI]
|
1.821e-05
|
|
|
|
EPM2A
|
[NCBI]
|
1.74945e-05
|
|
|
|
ATP1A2
|
[NCBI]
|
1.74945e-05
|
|
|
|
HDAC2
|
[NCBI]
|
1.74945e-05
|
|
|
|
MAFD6
|
[NCBI]
|
1.74803e-05
|
|
|
|
CPI
|
[NCBI]
|
1.73701e-05
|
|
|
|
BGS
|
[NCBI]
|
1.73513e-05
|
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
1.73513e-05
|
|
|
|
ERCC3
|
[NCBI]
|
1.68337e-05
|
|
|
|
KCNQ2
|
[NCBI]
|
1.68337e-05
|
|
|
|
alsin
|
[NCBI]
|
1.68337e-05
|
|
|
|
PRODH
|
[NCBI]
|
1.68337e-05
|
|
|
|
PMD
|
[NCBI]
|
1.651e-05
|
|
|
|
sick sinus syndrome, autosomal dominant
|
[NCBI]
|
1.64904e-05
|
|
|
|
nephrosialidosis
|
[NCBI]
|
1.64904e-05
|
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
1.64904e-05
|
|
|
|
sulfocysteinuria
|
[NCBI]
|
1.64904e-05
|
|
|
|
homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type
|
[NCBI]
|
1.64904e-05
|
|
|
|
CINCA
|
[NCBI]
|
1.64904e-05
|
|
|
|
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
|
[NCBI]
|
1.64904e-05
|
|
|
|
kanzaki disease
|
[NCBI]
|
1.64904e-05
|
|
|
|
musical perfect pitch
|
[NCBI]
|
1.64904e-05
|
|
|
|
congenital disorder of glycosylation, type i/iix
|
[NCBI]
|
1.64904e-05
|
|
|
|
hypercalcemia, idiopathic, of infancy
|
[NCBI]
|
1.64904e-05
|
|
|
|
tyrosinemia, type iii
|
[NCBI]
|
1.64904e-05
|
|
|
|
diastrophic dysplasia
|
[NCBI]
|
1.64148e-05
|
|
|
|
ADHD
|
[NCBI]
|
1.63778e-05
|
|
|
|
LRP2
|
[NCBI]
|
1.62203e-05
|
|
|
|
HOXD13
|
[NCBI]
|
1.62203e-05
|
|
|
|
CDC2
|
[NCBI]
|
1.62203e-05
|
|
|
|
BDNF
|
[NCBI]
|
1.62151e-05
|
|
|
|
GNAS
|
[NCBI]
|
1.58441e-05
|
|
|
|
HSCR1
|
[NCBI]
|
1.56806e-05
|
|
|
|
IRF6
|
[NCBI]
|
1.56485e-05
|
|
|
|
SLC12A3
|
[NCBI]
|
1.56485e-05
|
|
|
|
IVA
|
[NCBI]
|
1.55304e-05
|
|
|
|
CES
|
[NCBI]
|
1.51874e-05
|
|
|
|
SPG7
|
[NCBI]
|
1.51132e-05
|
|
|
|
VLDLR
|
[NCBI]
|
1.51132e-05
|
|
|
|
dyschromatosis symmetrica hereditaria 1
|
[NCBI]
|
1.4694e-05
|
|
|
|
PCD
|
[NCBI]
|
1.46451e-05
|
|
|
|
GJA8
|
[NCBI]
|
1.46106e-05
|
|
|
|
TPI1
|
[NCBI]
|
1.46106e-05
|
|
|
|
AN1
|
[NCBI]
|
1.45546e-05
|
|
|
|
l-2-hydroxyglutaric aciduria
|
[NCBI]
|
1.45546e-05
|
|
|
|
gout, hprt-related
|
[NCBI]
|
1.45546e-05
|
|
|
|
JBTS3
|
[NCBI]
|
1.45546e-05
|
|
|
|
BDE
|
[NCBI]
|
1.45546e-05
|
|
|
|
hyperbilirubinemia, transient familial neonatal
|
[NCBI]
|
1.45546e-05
|
|
|
|
RPS19
|
[NCBI]
|
1.4137e-05
|
|
|
|
MAOB
|
[NCBI]
|
1.4137e-05
|
|
|
|
DKC1
|
[NCBI]
|
1.4137e-05
|
|
|
|
MTCYB
|
[NCBI]
|
1.4137e-05
|
|
|
|
CHM
|
[NCBI]
|
1.40734e-05
|
|
|
|
GUSB
|
[NCBI]
|
1.40278e-05
|
|
|
|
krabbe disease
|
[NCBI]
|
1.38981e-05
|
|
|
|
CRYAB
|
[NCBI]
|
1.36896e-05
|
|
|
|
DRPLA
|
[NCBI]
|
1.36896e-05
|
|
|
|
PAFAH1B1
|
[NCBI]
|
1.36896e-05
|
|
|
|
MVK
|
[NCBI]
|
1.36896e-05
|
|
|
|
DBA
|
[NCBI]
|
1.36425e-05
|
|
|
|
TBG
|
[NCBI]
|
1.32659e-05
|
|
|
|
CFNS
|
[NCBI]
|
1.31518e-05
|
|
|
|
CZP1
|
[NCBI]
|
1.29108e-05
|
|
|
|
EVR2
|
[NCBI]
|
1.29108e-05
|
|
|
|
methylmalonic aciduria, cbla type
|
[NCBI]
|
1.29108e-05
|
|
|
|
porencephaly, familial
|
[NCBI]
|
1.29108e-05
|
|
|
|
HPS2
|
[NCBI]
|
1.29108e-05
|
|
|
|
CDG2A
|
[NCBI]
|
1.29108e-05
|
|
|
|
epilepsy, nocturnal frontal lobe, type 1
|
[NCBI]
|
1.29108e-05
|
|
|
|
ablepharon-macrostomia syndrome
|
[NCBI]
|
1.29108e-05
|
|
|
|
metaphyseal chondrodysplasia, jansen type
|
[NCBI]
|
1.29108e-05
|
|
|
|
TRS
|
[NCBI]
|
1.29108e-05
|
|
|
|
emanuel syndrome
|
[NCBI]
|
1.29108e-05
|
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3
|
[NCBI]
|
1.29108e-05
|
|
|
|
XPB
|
[NCBI]
|
1.29108e-05
|
|
|
|
fabry disease
|
[NCBI]
|
1.28827e-05
|
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
1.28638e-05
|
|
|
|
CHM
|
[NCBI]
|
1.24813e-05
|
|
|
|
GLI3
|
[NCBI]
|
1.24813e-05
|
|
|
|
FY
|
[NCBI]
|
1.24813e-05
|
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
1.244e-05
|
|
|
|
centralopathic epilepsy
|
[NCBI]
|
1.226e-05
|
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
1.226e-05
|
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
1.226e-05
|
|
|
|
PITX2
|
[NCBI]
|
1.1769e-05
|
|
|
|
TWIST1
|
[NCBI]
|
1.1769e-05
|
|
|
|
G6PD
|
[NCBI]
|
1.17682e-05
|
|
|
|
mucolipidosis iv
|
[NCBI]
|
1.17643e-05
|
|
|
|
BDA1
|
[NCBI]
|
1.14938e-05
|
|
|
|
PCS
|
[NCBI]
|
1.14938e-05
|
|
|
|
GS1
|
[NCBI]
|
1.14938e-05
|
|
|
|
SPG11
|
[NCBI]
|
1.14938e-05
|
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
1.14938e-05
|
|
|
|
XPC
|
[NCBI]
|
1.14364e-05
|
|
|
|
BRRS
|
[NCBI]
|
1.11358e-05
|
|
|
|
wilson disease
|
[NCBI]
|
1.0909e-05
|
|
|
|
CAV3
|
[NCBI]
|
1.08127e-05
|
|
|
|
AR
|
[NCBI]
|
1.06661e-05
|
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
1.05123e-05
|
|
|
|
VIP
|
[NCBI]
|
1.0283e-05
|
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
1.02579e-05
|
|
|
|
MCOPS9
|
[NCBI]
|
1.02579e-05
|
|
|
|
IFD
|
[NCBI]
|
1.02579e-05
|
|
|
|
noonan-like/multiple giant cell lesion syndrome
|
[NCBI]
|
1.02579e-05
|
|
|
|
sturge-weber syndrome
|
[NCBI]
|
1.02579e-05
|
|
|
|
CTLN2
|
[NCBI]
|
1.02579e-05
|
|
|
|
ankyloblepharon-ectodermal defects-cleft lip/palate
|
[NCBI]
|
1.02579e-05
|
|
|
|
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
|
[NCBI]
|
1.02579e-05
|
|
|
|
XPV
|
[NCBI]
|
1.02579e-05
|
|
|
|
hemoglobin--variants for which the chain carrying the mutation is unknown or uncertain
|
[NCBI]
|
1.02579e-05
|
|
|
|
d-2-@hydroxyglutaric aciduria
|
[NCBI]
|
1.02579e-05
|
|
|
|
PFIC1
|
[NCBI]
|
9.93194e-06
|
|
|
|
IGF1
|
[NCBI]
|
9.70651e-06
|
|
|
|
PDHA1
|
[NCBI]
|
9.45509e-06
|
|
|
|
NR0B1
|
[NCBI]
|
9.45509e-06
|
|
|
|
GSR
|
[NCBI]
|
9.45509e-06
|
|
|
|
usher syndrome, type i
|
[NCBI]
|
9.37967e-06
|
|
|
|
CMTX1
|
[NCBI]
|
9.37967e-06
|
|
|
|
ODDD
|
[NCBI]
|
9.37967e-06
|
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
9.37967e-06
|
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
9.17008e-06
|
|
|
|
encephalopathy, neonatal severe, due to mecp2 mutations
|
[NCBI]
|
9.17008e-06
|
|
|
|
ISS
|
[NCBI]
|
9.17008e-06
|
|
|
|
wagr syndrome
|
[NCBI]
|
9.17008e-06
|
|
|
|
WS3
|
[NCBI]
|
9.17008e-06
|
|
|
|
wildervanck syndrome
|
[NCBI]
|
9.17008e-06
|
|
|
|
XPF
|
[NCBI]
|
9.17008e-06
|
|
|
|
maple syrup urine disease
|
[NCBI]
|
9.08529e-06
|
|
|
|
ALDH3A2
|
[NCBI]
|
8.97835e-06
|
|
|
|
RCDP1
|
[NCBI]
|
8.85391e-06
|
|
|
|
apert syndrome
|
[NCBI]
|
8.85391e-06
|
|
|
|
FIH
|
[NCBI]
|
8.85391e-06
|
|
|
|
FLNA
|
[NCBI]
|
8.75205e-06
|
|
|
|
ADCYAP1
|
[NCBI]
|
8.67552e-06
|
|
|
|
KIT
|
[NCBI]
|
8.53321e-06
|
|
|
|
FGFR2
|
[NCBI]
|
8.4762e-06
|
|
|
|
TTR
|
[NCBI]
|
8.4277e-06
|
|
|
|
OSCS
|
[NCBI]
|
8.39691e-06
|
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
8.32145e-06
|
|
|
|
BRAF
|
[NCBI]
|
8.32145e-06
|
|
|
|
sialuria
|
[NCBI]
|
8.20552e-06
|
|
|
|
renal tubular acidosis, distal, with progressive nerve deafness
|
[NCBI]
|
8.20552e-06
|
|
|
|
MERRF
|
[NCBI]
|
8.20552e-06
|
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
8.20552e-06
|
|
|
|
LDS
|
[NCBI]
|
8.20552e-06
|
|
|
|
adult syndrome
|
[NCBI]
|
8.20552e-06
|
|
|
|
GINGF
|
[NCBI]
|
8.20552e-06
|
|
|
|
PBT
|
[NCBI]
|
8.20552e-06
|
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
8.20552e-06
|
|
|
|
SNDI
|
[NCBI]
|
8.20552e-06
|
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
8.20552e-06
|
|
|
|
HDAC1
|
[NCBI]
|
8.1164e-06
|
|
|
|
CAT
|
[NCBI]
|
8.04762e-06
|
|
|
|
APOB
|
[NCBI]
|
7.90473e-06
|
|
|
|
DKC
|
[NCBI]
|
7.42169e-06
|
|
|
|
factor x deficiency
|
[NCBI]
|
7.35693e-06
|
|
|
|
SACS
|
[NCBI]
|
7.34522e-06
|
|
|
|
MCOPS2
|
[NCBI]
|
7.34522e-06
|
|
|
|
phosphoglycerate kinase 1 deficiency
|
[NCBI]
|
7.34522e-06
|
|
|
|
indifference to pain, congenital, autosomal recessive
|
[NCBI]
|
7.34522e-06
|
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
7.34522e-06
|
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
7.34522e-06
|
|
|
|
langer mesomelic dysplasia
|
[NCBI]
|
7.34522e-06
|
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
7.3375e-06
|
|
|
|
apc gene
|
[NCBI]
|
7.03095e-06
|
|
|
|
FH
|
[NCBI]
|
7.0098e-06
|
|
|
|
SMEI
|
[NCBI]
|
6.98851e-06
|
|
|
|
IP
|
[NCBI]
|
6.83262e-06
|
|
|
|
THRB
|
[NCBI]
|
6.6819e-06
|
|
|
|
RP2
|
[NCBI]
|
6.6819e-06
|
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
6.57424e-06
|
|
|
|
feingold syndrome
|
[NCBI]
|
6.57424e-06
|
|
|
|
diabetes mellitus, insulin-resistant, with acanthosis nigricans
|
[NCBI]
|
6.57424e-06
|
|
|
|
PFM
|
[NCBI]
|
6.57424e-06
|
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
6.57424e-06
|
|
|
|
pituitary dwarfism i
|
[NCBI]
|
6.57424e-06
|
|
|
|
factor vii deficiency
|
[NCBI]
|
6.37164e-06
|
|
|
|
KAL1
|
[NCBI]
|
6.22268e-06
|
|
|
|
proteus syndrome
|
[NCBI]
|
5.93102e-06
|
|
|
|
exostoses, multiple, type ii
|
[NCBI]
|
5.88064e-06
|
|
|
|
paget disease, juvenile
|
[NCBI]
|
5.88064e-06
|
|
|
|
dent disease 1
|
[NCBI]
|
5.88064e-06
|
|
|
|
GVM
|
[NCBI]
|
5.88064e-06
|
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
5.88064e-06
|
|
|
|
CDG2C
|
[NCBI]
|
5.88064e-06
|
|
|
|
CHNG1
|
[NCBI]
|
5.88064e-06
|
|
|
|
XPD
|
[NCBI]
|
5.88064e-06
|
|
|
|
WT1
|
[NCBI]
|
5.79861e-06
|
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
5.25473e-06
|
|
|
|
galactokinase deficiency
|
[NCBI]
|
5.25473e-06
|
|
|
|
OPD2
|
[NCBI]
|
5.25473e-06
|
|
|
|
AVSD
|
[NCBI]
|
5.16263e-06
|
|
|
|
PAX6
|
[NCBI]
|
5.15979e-06
|
|
|
|
BMD
|
[NCBI]
|
4.78354e-06
|
|
|
|
CGD
|
[NCBI]
|
4.7745e-06
|
|
|
|
INAD1
|
[NCBI]
|
4.68853e-06
|
|
|
|
CORD2
|
[NCBI]
|
4.68853e-06
|
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
4.68853e-06
|
|
|
|
diabetes insipidus, nephrogenic, autosomal
|
[NCBI]
|
4.68853e-06
|
|
|
|
scheie syndrome
|
[NCBI]
|
4.68853e-06
|
|
|
|
septooptic dysplasia
|
[NCBI]
|
4.68853e-06
|
|
|
|
FMD
|
[NCBI]
|
4.68853e-06
|
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
4.68853e-06
|
|
|
|
MTR
|
[NCBI]
|
4.48842e-06
|
|
|
|
down syndrome
|
[NCBI]
|
4.17923e-06
|
|
|
|
KFSD
|
[NCBI]
|
4.17541e-06
|
|
|
|
glutaric acidemia i
|
[NCBI]
|
4.17541e-06
|
|
|
|
TD1
|
[NCBI]
|
4.02738e-06
|
|
|
|
IDUA
|
[NCBI]
|
3.9956e-06
|
|
|
|
UMS
|
[NCBI]
|
3.70975e-06
|
|
|
|
hartnup disorder
|
[NCBI]
|
3.70975e-06
|
|
|
|
crouzon syndrome
|
[NCBI]
|
3.70975e-06
|
|
|
|
PLOSL
|
[NCBI]
|
3.70975e-06
|
|
|
|
ZS
|
[NCBI]
|
3.51388e-06
|
|
|
|
porphyria variegata
|
[NCBI]
|
3.4945e-06
|
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
3.4945e-06
|
|
|
|
COL2A1
|
[NCBI]
|
3.39077e-06
|
|
|
|
EBN1
|
[NCBI]
|
3.28681e-06
|
|
|
|
VIM
|
[NCBI]
|
3.23398e-06
|
|
|
|
IGFALS
|
[NCBI]
|
3.15802e-06
|
|
|
|
HD
|
[NCBI]
|
2.91692e-06
|
|
|
|
ED1
|
[NCBI]
|
2.90557e-06
|
|
|
|
CLN2
|
[NCBI]
|
2.90252e-06
|
|
|
|
RASA1
|
[NCBI]
|
2.86956e-06
|
|
|
|
PDS
|
[NCBI]
|
2.68737e-06
|
|
|
|
PPAC
|
[NCBI]
|
2.55337e-06
|
|
|
|
EAOH
|
[NCBI]
|
2.55337e-06
|
|
|
|
AFD1
|
[NCBI]
|
2.55337e-06
|
|
|
|
SLSN1
|
[NCBI]
|
2.55337e-06
|
|
|
|
ACADM
|
[NCBI]
|
2.54085e-06
|
|
|
|
CHAT
|
[NCBI]
|
2.47857e-06
|
|
|
|
BCNS
|
[NCBI]
|
2.46092e-06
|
|
|
|
ALB
|
[NCBI]
|
2.45769e-06
|
|
|
|
AMC
|
[NCBI]
|
2.35467e-06
|
|
|
|
CMT1A
|
[NCBI]
|
2.35467e-06
|
|
|
|
CPX
|
[NCBI]
|
2.23628e-06
|
|
|
|
FRDA
|
[NCBI]
|
1.95461e-06
|
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
1.94859e-06
|
|
|
|
refsum disease
|
[NCBI]
|
1.94859e-06
|
|
|
|
canavan disease
|
[NCBI]
|
1.94859e-06
|
|
|
|
GAN1
|
[NCBI]
|
1.94859e-06
|
|
|
|
PPS
|
[NCBI]
|
1.94859e-06
|
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
1.94859e-06
|
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
1.94859e-06
|
|
|
|
ILK
|
[NCBI]
|
1.82691e-06
|
|
|
|
MKS1
|
[NCBI]
|
1.75561e-06
|
|
|
|
VWM
|
[NCBI]
|
1.68795e-06
|
|
|
|
CDK5
|
[NCBI]
|
1.68701e-06
|
|
|
|
CDK2
|
[NCBI]
|
1.68701e-06
|
|
|
|
ACC
|
[NCBI]
|
1.5693e-06
|
|
|
|
GAPDH
|
[NCBI]
|
1.48507e-06
|
|
|
|
MELAS
|
[NCBI]
|
1.45227e-06
|
|
|
|
ALMS
|
[NCBI]
|
1.45227e-06
|
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
1.45227e-06
|
|
|
|
VWS
|
[NCBI]
|
1.45055e-06
|
|
|
|
SCZD
|
[NCBI]
|
1.26288e-06
|
|
|
|
PKD1
|
[NCBI]
|
1.2409e-06
|
|
|
|
hyperglycerolemia
|
[NCBI]
|
1.2397e-06
|
|
|
|
HP
|
[NCBI]
|
1.20023e-06
|
|
|
|
cayler cardiofacial syndrome
|
[NCBI]
|
1.18614e-06
|
|
|
|
HHF2
|
[NCBI]
|
1.14496e-06
|
|
|
|
CGL2
|
[NCBI]
|
1.0486e-06
|
|
|
|
diabetes insipidus, nephrogenic, x-linked
|
[NCBI]
|
1.0486e-06
|
|
|
|
sialuria, finnish type
|
[NCBI]
|
1.0486e-06
|
|
|
|
von willebrand disease
|
[NCBI]
|
9.7431e-07
|
|
|
|
BRCA2
|
[NCBI]
|
9.7431e-07
|
|
|
|
hurler syndrome
|
[NCBI]
|
9.42945e-07
|
|
|
|
ABS
|
[NCBI]
|
8.77471e-07
|
|
|
|
NPHP1
|
[NCBI]
|
8.77471e-07
|
|
|
|
sickle cell anemia
|
[NCBI]
|
8.19348e-07
|
|
|
|
TPO
|
[NCBI]
|
8.14005e-07
|
|
|
|
gaucher disease, type iii
|
[NCBI]
|
7.24994e-07
|
|
|
|
CHNG2
|
[NCBI]
|
7.24994e-07
|
|
|
|
RP3
|
[NCBI]
|
7.24994e-07
|
|
|
|
MTM1
|
[NCBI]
|
7.20747e-07
|
|
|
|
RTS
|
[NCBI]
|
7.20747e-07
|
|
|
|
mucolipidosis ii
|
[NCBI]
|
7.20747e-07
|
|
|
|
PTEN
|
[NCBI]
|
6.75001e-07
|
|
|
|
HNPP
|
[NCBI]
|
6.27415e-07
|
|
|
|
SHFM3
|
[NCBI]
|
5.62183e-07
|
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
5.39546e-07
|
|
|
|
CTNS
|
[NCBI]
|
5.39546e-07
|
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
4.82852e-07
|
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
4.71282e-07
|
|
|
|
SCDO1
|
[NCBI]
|
4.71282e-07
|
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
4.71282e-07
|
|
|
|
EFE
|
[NCBI]
|
4.71282e-07
|
|
|
|
galactosemia
|
[NCBI]
|
4.57347e-07
|
|
|
|
autism
|
[NCBI]
|
3.68069e-07
|
|
|
|
AOS
|
[NCBI]
|
3.68069e-07
|
|
|
|
MSD
|
[NCBI]
|
3.67966e-07
|
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
3.67966e-07
|
|
|
|
DAR
|
[NCBI]
|
3.67966e-07
|
|
|
|
DRPLA
|
[NCBI]
|
2.82951e-07
|
|
|
|
SPG4
|
[NCBI]
|
2.79109e-07
|
|
|
|
NPC1
|
[NCBI]
|
2.30036e-07
|
|
|
|
SOD1
|
[NCBI]
|
2.15674e-07
|
|
|
|
CDG1A
|
[NCBI]
|
1.89802e-07
|
|
|
|
DGS
|
[NCBI]
|
1.83749e-07
|
|
|
|
CD
|
[NCBI]
|
1.58335e-07
|
|
|
|
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
|
[NCBI]
|
1.41534e-07
|
|
|
|
FGFR3
|
[NCBI]
|
9.87046e-08
|
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
9.13634e-08
|
|
|
|
CVS
|
[NCBI]
|
9.13634e-08
|
|
|
|
RBS
|
[NCBI]
|
9.13634e-08
|
|
|
|
GPI
|
[NCBI]
|
7.61613e-08
|
|
|
|
CP
|
[NCBI]
|
7.45403e-08
|
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
7.06422e-08
|
|
|
|
HEMB
|
[NCBI]
|
6.95929e-08
|
|
|
|
SJS1
|
[NCBI]
|
6.07585e-08
|
|
|
|
ACH
|
[NCBI]
|
5.45089e-08
|
|
|
|
EVC
|
[NCBI]
|
5.27309e-08
|
|
|
|
COMT
|
[NCBI]
|
4.89331e-08
|
|
|
|
VMD
|
[NCBI]
|
3.29813e-08
|
|
|
|
FDH
|
[NCBI]
|
3.29813e-08
|
|
|
|
PHS
|
[NCBI]
|
1.33978e-08
|
|
|
|
sandhoff disease
|
[NCBI]
|
1.33978e-08
|
|
|
|
ADA
|
[NCBI]
|
5.66704e-09
|
|
|
|
PRNP
|
[NCBI]
|
7.00326e-10
|
|
