|
OMIM |
Link |
Information gain |
01 |
|
SRS
|
[NCBI]
|
0.0201531
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.00475674
|
|
|
kabuki syndrome
|
[NCBI]
|
0.00429165
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.00196826
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.0019554
|
|
|
RA
|
[NCBI]
|
0.00174737
|
|
|
gapo syndrome
|
[NCBI]
|
0.00157306
|
|
|
weaver syndrome
|
[NCBI]
|
0.00142008
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.00141216
|
|
|
SLE
|
[NCBI]
|
0.00128688
|
|
|
proteus syndrome
|
[NCBI]
|
0.00128394
|
|
|
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina
|
[NCBI]
|
0.00117864
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.00107971
|
|
|
hairy elbows
|
[NCBI]
|
0.00100703
|
|
|
sotos syndrome
|
[NCBI]
|
0.000869383
|
|
|
GHR
|
[NCBI]
|
0.000868455
|
|
|
omodysplasia
|
[NCBI]
|
0.000784996
|
|
|
GHRH
|
[NCBI]
|
0.000755497
|
|
|
charge syndrome
|
[NCBI]
|
0.000712826
|
|
|
GH1
|
[NCBI]
|
0.000644246
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.000627113
|
|
|
MRXS12
|
[NCBI]
|
0.000606733
|
|
|
acromegaloid features, overgrowth, cleft palate, and hernia
|
[NCBI]
|
0.000606733
|
|
|
abidi x-linked mental retardation syndrome
|
[NCBI]
|
0.000606733
|
|
|
cataract, ataxia, short stature, and mental retardation
|
[NCBI]
|
0.000606733
|
|
|
SCKL2
|
[NCBI]
|
0.000606733
|
|
|
SCKL3
|
[NCBI]
|
0.000606733
|
|
|
microcephaly-micromelia syndrome
|
[NCBI]
|
0.000606733
|
|
|
armfield x-linked mental retardation syndrome
|
[NCBI]
|
0.000606733
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
0.000572456
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.000572456
|
|
|
SGBS1
|
[NCBI]
|
0.000531742
|
|
|
pitt syndrome
|
[NCBI]
|
0.000457945
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000454122
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.000416356
|
|
|
IH
|
[NCBI]
|
0.000397463
|
|
|
microcephaly, autosomal dominant
|
[NCBI]
|
0.000397463
|
|
|
natural killer cell deficiency, familial isolated
|
[NCBI]
|
0.000392116
|
|
|
brooks-wisniewski-brown syndrome
|
[NCBI]
|
0.000392116
|
|
|
SCAR5
|
[NCBI]
|
0.000392116
|
|
|
blepharophimosis with ptosis, syndactyly, and short stature
|
[NCBI]
|
0.000392116
|
|
|
CDLS1
|
[NCBI]
|
0.000386258
|
|
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
0.000373363
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
0.000373363
|
|
|
floating-harbor syndrome
|
[NCBI]
|
0.000368811
|
|
|
WBS
|
[NCBI]
|
0.000354583
|
|
|
short stature, idiopathic, autosomal
|
[NCBI]
|
0.000354096
|
|
|
IGFALS
|
[NCBI]
|
0.000353485
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
0.000351469
|
|
|
WHS
|
[NCBI]
|
0.000341613
|
|
|
SDS
|
[NCBI]
|
0.000341613
|
|
|
costello syndrome
|
[NCBI]
|
0.000327429
|
|
|
RBS
|
[NCBI]
|
0.000323322
|
|
|
pituitary dwarfism i
|
[NCBI]
|
0.00031486
|
|
|
hyperimmunoglobulin e-recurrent infection syndrome, autosomal recessive
|
[NCBI]
|
0.000313191
|
|
|
mental retardation with optic atrophy, deafness, and seizures
|
[NCBI]
|
0.000313191
|
|
|
kaufman oculocerebrofacial syndrome
|
[NCBI]
|
0.000313191
|
|
|
erythrokeratodermia variabilis 3
|
[NCBI]
|
0.000313191
|
|
|
amelogenesis imperfecta, hypoplastic type
|
[NCBI]
|
0.000313191
|
|
|
spondylometaphyseal dysplasia, corner fracture type
|
[NCBI]
|
0.000313191
|
|
|
BTHS
|
[NCBI]
|
0.000302878
|
|
|
IS1
|
[NCBI]
|
0.000299998
|
|
|
SHOX
|
[NCBI]
|
0.000295812
|
|
|
LWD
|
[NCBI]
|
0.000293827
|
|
|
insulin-like growth factor i, resistance to
|
[NCBI]
|
0.000277751
|
|
|
growth hormone insensitivity with immunodeficiency
|
[NCBI]
|
0.000275656
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
0.000266516
|
|
|
ISS
|
[NCBI]
|
0.000266516
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000265645
|
|
|
rosselli-gulienetti syndrome
|
[NCBI]
|
0.00026311
|
|
|
MEHMO
|
[NCBI]
|
0.00026311
|
|
|
SCAR2
|
[NCBI]
|
0.00026311
|
|
|
johnson neuroectodermal syndrome
|
[NCBI]
|
0.00026311
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.00026311
|
|
|
GRB10
|
[NCBI]
|
0.000262686
|
|
|
GPC3
|
[NCBI]
|
0.00026211
|
|
|
MRXHF1
|
[NCBI]
|
0.000252141
|
|
|
NS1
|
[NCBI]
|
0.000239737
|
|
|
opsismodysplasia
|
[NCBI]
|
0.000226728
|
|
|
bruck syndrome 1
|
[NCBI]
|
0.000226728
|
|
|
chromosome 10q deletion syndrome
|
[NCBI]
|
0.000226728
|
|
|
SLOS
|
[NCBI]
|
0.000224687
|
|
|
peters-plus syndrome
|
[NCBI]
|
0.000218565
|
|
|
menkes disease
|
[NCBI]
|
0.000213176
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
0.000209811
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.000204924
|
|
|
gombo syndrome
|
[NCBI]
|
0.000202263
|
|
|
say syndrome
|
[NCBI]
|
0.000202263
|
|
|
nevo syndrome
|
[NCBI]
|
0.000202263
|
|
|
NSD1
|
[NCBI]
|
0.000202158
|
|
|
HRD
|
[NCBI]
|
0.000202147
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
0.000198414
|
|
|
pygmy
|
[NCBI]
|
0.000198414
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
0.000198414
|
|
|
cholestasis-lymphedema syndrome
|
[NCBI]
|
0.000198414
|
|
|
spondyloepiphyseal dysplasia tarda, toledo type
|
[NCBI]
|
0.000198414
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
0.00019533
|
|
|
pterygia, mental retardation, and distinctive craniofacial features
|
[NCBI]
|
0.000184297
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.000175432
|
|
|
BWS
|
[NCBI]
|
0.000165287
|
|
|
STAT5B
|
[NCBI]
|
0.000163786
|
|
|
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
|
[NCBI]
|
0.000161594
|
|
|
marshall-smith syndrome
|
[NCBI]
|
0.000161594
|
|
|
immunoosseous dysplasia, schimke type
|
[NCBI]
|
0.000161476
|
|
|
SMMCI
|
[NCBI]
|
0.000161476
|
|
|
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism
|
[NCBI]
|
0.000159046
|
|
|
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
|
[NCBI]
|
0.000159046
|
|
|
subaortic stenosis--short stature syndrome
|
[NCBI]
|
0.000159046
|
|
|
TTDP
|
[NCBI]
|
0.000157873
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.000156239
|
|
|
hennekam lymphangiectasia-lymphedema syndrome
|
[NCBI]
|
0.000156239
|
|
|
short syndrome
|
[NCBI]
|
0.000153412
|
|
|
microcephaly, hiatus hernia, and nephrotic syndrome
|
[NCBI]
|
0.00013988
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.00013988
|
|
|
omodysplasia, generalized form
|
[NCBI]
|
0.00013988
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
0.00013988
|
|
|
acrodysostosis
|
[NCBI]
|
0.00013988
|
|
|
GO
|
[NCBI]
|
0.00013988
|
|
|
donohue syndrome
|
[NCBI]
|
0.000137347
|
|
|
KCS
|
[NCBI]
|
0.000135082
|
|
|
EIF2AK3
|
[NCBI]
|
0.000135037
|
|
|
MEST
|
[NCBI]
|
0.000129968
|
|
|
BDA6
|
[NCBI]
|
0.000128212
|
|
|
pituitary dwarfism iv
|
[NCBI]
|
0.000128212
|
|
|
ACFD
|
[NCBI]
|
0.000128212
|
|
|
bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
|
[NCBI]
|
0.000128212
|
|
|
mental retardation, buenos aires type
|
[NCBI]
|
0.000128212
|
|
|
leopard syndrome 1
|
[NCBI]
|
0.000128185
|
|
|
PCA
|
[NCBI]
|
0.00012572
|
|
|
THAS
|
[NCBI]
|
0.00012572
|
|
|
IGF1
|
[NCBI]
|
0.000122829
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
0.00012201
|
|
|
PTPRS
|
[NCBI]
|
0.000121616
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
0.000115002
|
|
|
insulin-like growth factor i deficiency
|
[NCBI]
|
0.000114342
|
|
|
robin sequence with cleft mandible and limb anomalies
|
[NCBI]
|
0.000114342
|
|
|
roifman syndrome
|
[NCBI]
|
0.000114342
|
|
|
weill-marchesani syndrome, autosomal dominant
|
[NCBI]
|
0.000114342
|
|
|
charge-like syndrome, x-linked
|
[NCBI]
|
0.000114342
|
|
|
MCOPS1
|
[NCBI]
|
0.000113317
|
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.000113317
|
|
|
fanconi renotubular syndrome
|
[NCBI]
|
0.000113317
|
|
|
DMC
|
[NCBI]
|
0.000111868
|
|
|
seckel syndrome 1
|
[NCBI]
|
0.000108938
|
|
|
MVA
|
[NCBI]
|
0.000108938
|
|
|
TRPS2
|
[NCBI]
|
0.000107146
|
|
|
progeroid short stature with pigmented nevi
|
[NCBI]
|
0.000104858
|
|
|
hawkinsinuria
|
[NCBI]
|
0.000104858
|
|
|
LIG1
|
[NCBI]
|
0.000102655
|
|
|
DBQD
|
[NCBI]
|
0.000102351
|
|
|
TAZ
|
[NCBI]
|
0.000102177
|
|
|
OPTB3
|
[NCBI]
|
0.000101155
|
|
|
BGS
|
[NCBI]
|
9.25471e-05
|
|
|
TTDN1
|
[NCBI]
|
9.17596e-05
|
|
|
AEZ
|
[NCBI]
|
9.0638e-05
|
|
|
HLXB9
|
[NCBI]
|
8.82304e-05
|
|
|
ESCO2
|
[NCBI]
|
8.82304e-05
|
|
|
hyperglycerolemia
|
[NCBI]
|
8.70576e-05
|
|
|
AMCN
|
[NCBI]
|
8.38214e-05
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
8.26067e-05
|
|
|
martsolf syndrome
|
[NCBI]
|
8.26067e-05
|
|
|
bartter syndrome, type 3
|
[NCBI]
|
8.06951e-05
|
|
|
MSS
|
[NCBI]
|
8.06951e-05
|
|
|
SKI
|
[NCBI]
|
8.00946e-05
|
|
|
growth deficiency and mental retardation with facial dysmorphism
|
[NCBI]
|
7.95109e-05
|
|
|
gms syndrome
|
[NCBI]
|
7.95109e-05
|
|
|
brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
|
[NCBI]
|
7.95109e-05
|
|
|
mental retardation, short stature, facial anomalies, and joint dislocations
|
[NCBI]
|
7.95109e-05
|
|
|
dwarfism, mental retardation, and eye abnormality
|
[NCBI]
|
7.95109e-05
|
|
|
gonadal dysgenesis, hypergonadotropic, xx type, short stature, and recurrent metabolic acidosis
|
[NCBI]
|
7.95109e-05
|
|
|
SSOS
|
[NCBI]
|
7.95109e-05
|
|
|
finger locking, recurrent, with intrauterine growth retardation and proportionate short stature
|
[NCBI]
|
7.95109e-05
|
|
|
pfeiffer-palm-teller syndrome
|
[NCBI]
|
7.95109e-05
|
|
|
pierre robin sequence with facial and digital anomalies
|
[NCBI]
|
7.95109e-05
|
|
|
multiple epiphyseal dysplasia with robin phenotype
|
[NCBI]
|
7.95109e-05
|
|
|
cataract, aberrant oral frenula, and growth retardation
|
[NCBI]
|
7.95109e-05
|
|
|
arthrogryposis, distal, with peculiar facies and hydronephrosis
|
[NCBI]
|
7.95109e-05
|
|
|
cortical blindness, retardation, and postaxial polydactyly
|
[NCBI]
|
7.95109e-05
|
|
|
hyperlysinuria with hyperammonemia
|
[NCBI]
|
7.95109e-05
|
|
|
intrinsic factor and r binder, combined congenital deficiency of
|
[NCBI]
|
7.95109e-05
|
|
|
anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
|
[NCBI]
|
7.95109e-05
|
|
|
otofacioosseous-gonadal syndrome
|
[NCBI]
|
7.95109e-05
|
|
|
short stature syndrome, brussels type
|
[NCBI]
|
7.95109e-05
|
|
|
megarbane syndrome
|
[NCBI]
|
7.95109e-05
|
|
|
pituitary dwarfism with large sella turcica
|
[NCBI]
|
7.95109e-05
|
|
|
growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
|
[NCBI]
|
7.95109e-05
|
|
|
arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
|
[NCBI]
|
7.95109e-05
|
|
|
renal and mullerian duct hypoplasia
|
[NCBI]
|
7.95109e-05
|
|
|
multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism
|
[NCBI]
|
7.95109e-05
|
|
|
growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia
|
[NCBI]
|
7.95109e-05
|
|
|
hall-riggs mental retardation syndrome
|
[NCBI]
|
7.95109e-05
|
|
|
osteolysis syndrome, recessive
|
[NCBI]
|
7.95109e-05
|
|
|
vitiligo, progressive, with mental retardation and urethral duplication
|
[NCBI]
|
7.95109e-05
|
|
|
nathalie syndrome
|
[NCBI]
|
7.95109e-05
|
|
|
fallot complex with severe mental and growth retardation
|
[NCBI]
|
7.95109e-05
|
|
|
STQTL9
|
[NCBI]
|
7.95109e-05
|
|
|
pili torti and developmental delay
|
[NCBI]
|
7.95109e-05
|
|
|
pancreatic insufficiency, combined exocrine
|
[NCBI]
|
7.95109e-05
|
|
|
adrenomyodystrophy
|
[NCBI]
|
7.95109e-05
|
|
|
partington-anderson syndrome
|
[NCBI]
|
7.95109e-05
|
|
|
russell-silver syndrome, x-linked
|
[NCBI]
|
7.95109e-05
|
|
|
OCRL
|
[NCBI]
|
7.78443e-05
|
|
|
ALGS1
|
[NCBI]
|
7.75636e-05
|
|
|
CHH
|
[NCBI]
|
7.59235e-05
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
7.55821e-05
|
|
|
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
|
[NCBI]
|
7.55821e-05
|
|
|
TNF
|
[NCBI]
|
7.47517e-05
|
|
|
GAL
|
[NCBI]
|
7.38243e-05
|
|
|
WSS
|
[NCBI]
|
7.26029e-05
|
|
|
FGD1
|
[NCBI]
|
7.20473e-05
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
6.9895e-05
|
|
|
three m syndrome
|
[NCBI]
|
6.9895e-05
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
6.87875e-05
|
|
|
currarino syndrome
|
[NCBI]
|
6.74147e-05
|
|
|
COH1
|
[NCBI]
|
6.70309e-05
|
|
|
STAT5A
|
[NCBI]
|
6.5803e-05
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
6.57855e-05
|
|
|
CFTD
|
[NCBI]
|
6.10328e-05
|
|
|
ZW10
|
[NCBI]
|
6.07924e-05
|
|
|
mental retardation, x-linked, with short stature
|
[NCBI]
|
6.07924e-05
|
|
|
MAN2C1
|
[NCBI]
|
6.07924e-05
|
|
|
ZWINT
|
[NCBI]
|
6.07924e-05
|
|
|
SLC13A1
|
[NCBI]
|
6.07924e-05
|
|
|
RGS10
|
[NCBI]
|
6.07924e-05
|
|
|
PRKACA
|
[NCBI]
|
6.07924e-05
|
|
|
IGF1R
|
[NCBI]
|
6.07332e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
5.91852e-05
|
|
|
septooptic dysplasia
|
[NCBI]
|
5.91852e-05
|
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
[NCBI]
|
5.91852e-05
|
|
|
JBS
|
[NCBI]
|
5.74504e-05
|
|
|
mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor
|
[NCBI]
|
5.71587e-05
|
|
|
mitochondrial myopathy with lactic acidosis
|
[NCBI]
|
5.71587e-05
|
|
|
hyaluronidase deficiency
|
[NCBI]
|
5.71587e-05
|
|
|
hyaluronan metabolism, defect in
|
[NCBI]
|
5.71587e-05
|
|
|
acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
|
[NCBI]
|
5.71587e-05
|
|
|
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
|
[NCBI]
|
5.71587e-05
|
|
|
bruck syndrome 2
|
[NCBI]
|
5.71587e-05
|
|
|
cataract-ataxia-deafness-retardation syndrome
|
[NCBI]
|
5.71587e-05
|
|
|
microcephalic primordial dwarfism, toriello type
|
[NCBI]
|
5.71587e-05
|
|
|
pterygium colli and mental retardation with facial and digital anomalies
|
[NCBI]
|
5.71587e-05
|
|
|
micromelic dysplasia, congenital, with dislocation of radius
|
[NCBI]
|
5.71587e-05
|
|
|
stratton-parker syndrome
|
[NCBI]
|
5.71587e-05
|
|
|
puerto rican infant hypotonia syndrome
|
[NCBI]
|
5.71587e-05
|
|
|
contractures, congenital, torticollis, and malignant hyperthermia
|
[NCBI]
|
5.71587e-05
|
|
|
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
|
[NCBI]
|
5.71587e-05
|
|
|
ataxia-microcephaly-cataract syndrome
|
[NCBI]
|
5.71587e-05
|
|
|
arthrogryposis, distal, with mental retardation and characteristic facies
|
[NCBI]
|
5.71587e-05
|
|
|
tonoki syndrome
|
[NCBI]
|
5.71587e-05
|
|
|
arthrogryposis, distal, type 2e
|
[NCBI]
|
5.71587e-05
|
|
|
trigonocephaly with short stature and developmental delay
|
[NCBI]
|
5.71587e-05
|
|
|
NSX
|
[NCBI]
|
5.71587e-05
|
|
|
creases, infra-auricular cutaneous, with tall stature and advanced bone age
|
[NCBI]
|
5.71587e-05
|
|
|
chondrodysplasia punctata syndrome
|
[NCBI]
|
5.71587e-05
|
|
|
growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction
|
[NCBI]
|
5.71587e-05
|
|
|
diarrhea 1, secretory chloride, congenital
|
[NCBI]
|
5.58161e-05
|
|
|
CJD
|
[NCBI]
|
5.54567e-05
|
|
|
CF
|
[NCBI]
|
5.49417e-05
|
|
|
PLOD1
|
[NCBI]
|
5.45271e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
5.28092e-05
|
|
|
GNRH1
|
[NCBI]
|
5.24797e-05
|
|
|
ERCC2
|
[NCBI]
|
5.12914e-05
|
|
|
HSS
|
[NCBI]
|
5.00984e-05
|
|
|
INSR
|
[NCBI]
|
4.90103e-05
|
|
|
GEMSS
|
[NCBI]
|
4.8797e-05
|
|
|
premature chromosome condensation with microcephaly and mental retardation
|
[NCBI]
|
4.8797e-05
|
|
|
anauxetic dysplasia
|
[NCBI]
|
4.8797e-05
|
|
|
acrorenal syndrome, autosomal recessive
|
[NCBI]
|
4.8797e-05
|
|
|
hutterite cerebroosteonephrodysplasia syndrome
|
[NCBI]
|
4.8797e-05
|
|
|
rapadilino syndrome
|
[NCBI]
|
4.8797e-05
|
|
|
alopecia-contractures-dwarfism mental retardation syndrome
|
[NCBI]
|
4.8797e-05
|
|
|
brachymorphism-onychodysplasia-dysphalangism syndrome
|
[NCBI]
|
4.8797e-05
|
|
|
ichthyosis and male hypogonadism
|
[NCBI]
|
4.8797e-05
|
|
|
neurofaciodigitorenal syndrome
|
[NCBI]
|
4.8797e-05
|
|
|
renal tubular acidosis, proximal
|
[NCBI]
|
4.8797e-05
|
|
|
retinopathy, pigmentary, and mental retardation
|
[NCBI]
|
4.8797e-05
|
|
|
lowry-maclean syndrome
|
[NCBI]
|
4.8797e-05
|
|
|
arthrogryposis and ectodermal dysplasia
|
[NCBI]
|
4.8797e-05
|
|
|
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
|
[NCBI]
|
4.8797e-05
|
|
|
agonadism with multiple internal malformations
|
[NCBI]
|
4.8797e-05
|
|
|
al-gazali syndrome
|
[NCBI]
|
4.8797e-05
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
4.72928e-05
|
|
|
HELLS
|
[NCBI]
|
4.70336e-05
|
|
|
GFRA2
|
[NCBI]
|
4.70336e-05
|
|
|
COPG2
|
[NCBI]
|
4.70336e-05
|
|
|
PFKP
|
[NCBI]
|
4.70336e-05
|
|
|
AGGF1
|
[NCBI]
|
4.70336e-05
|
|
|
MGAT2
|
[NCBI]
|
4.70336e-05
|
|
|
E2F4
|
[NCBI]
|
4.70336e-05
|
|
|
EGFL6
|
[NCBI]
|
4.70336e-05
|
|
|
SHOXY
|
[NCBI]
|
4.70336e-05
|
|
|
KPNA2
|
[NCBI]
|
4.70336e-05
|
|
|
MAP2K2
|
[NCBI]
|
4.70336e-05
|
|
|
SP4
|
[NCBI]
|
4.70336e-05
|
|
|
SPAG6
|
[NCBI]
|
4.70336e-05
|
|
|
B4GALT1
|
[NCBI]
|
4.70336e-05
|
|
|
ARID5B
|
[NCBI]
|
4.70336e-05
|
|
|
CSHL1
|
[NCBI]
|
4.70336e-05
|
|
|
ALMS
|
[NCBI]
|
4.64822e-05
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
4.6078e-05
|
|
|
ESD
|
[NCBI]
|
4.40065e-05
|
|
|
ATRX
|
[NCBI]
|
4.35118e-05
|
|
|
SPG20
|
[NCBI]
|
4.34092e-05
|
|
|
HPE5
|
[NCBI]
|
4.34092e-05
|
|
|
CAMT
|
[NCBI]
|
4.34092e-05
|
|
|
anal atresia, hypospadias, and penoscrotal inversion
|
[NCBI]
|
4.34092e-05
|
|
|
macrocephaly, benign familial
|
[NCBI]
|
4.34092e-05
|
|
|
PTLS
|
[NCBI]
|
4.34092e-05
|
|
|
microcephaly with chemotactic defect and transient hypogammaglobulinemia
|
[NCBI]
|
4.34092e-05
|
|
|
branchial arch syndrome, x-linked
|
[NCBI]
|
4.34092e-05
|
|
|
oculopalatoskeletal syndrome
|
[NCBI]
|
4.34092e-05
|
|
|
SEMA3E
|
[NCBI]
|
4.18541e-05
|
|
|
WHSC2
|
[NCBI]
|
4.18541e-05
|
|
|
ZNF148
|
[NCBI]
|
4.18541e-05
|
|
|
LMO7
|
[NCBI]
|
4.18541e-05
|
|
|
NR2C2
|
[NCBI]
|
4.18541e-05
|
|
|
RBL1
|
[NCBI]
|
4.18541e-05
|
|
|
CNTN4
|
[NCBI]
|
4.18541e-05
|
|
|
CDC25B
|
[NCBI]
|
4.18541e-05
|
|
|
UCHL3
|
[NCBI]
|
4.18541e-05
|
|
|
AHC
|
[NCBI]
|
4.1379e-05
|
|
|
immunodeficiency with hyper-igm, type 3
|
[NCBI]
|
3.94337e-05
|
|
|
PTHS
|
[NCBI]
|
3.94337e-05
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
3.94337e-05
|
|
|
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
|
[NCBI]
|
3.94337e-05
|
|
|
subglottic bar
|
[NCBI]
|
3.94337e-05
|
|
|
AVSD2
|
[NCBI]
|
3.94337e-05
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
3.94337e-05
|
|
|
CCNB1
|
[NCBI]
|
3.84982e-05
|
|
|
CSH1
|
[NCBI]
|
3.84982e-05
|
|
|
SIAH1
|
[NCBI]
|
3.84982e-05
|
|
|
CUL4B
|
[NCBI]
|
3.84982e-05
|
|
|
LTK
|
[NCBI]
|
3.84982e-05
|
|
|
HYAL1
|
[NCBI]
|
3.84982e-05
|
|
|
INCENP
|
[NCBI]
|
3.84982e-05
|
|
|
GFI1
|
[NCBI]
|
3.84982e-05
|
|
|
SHOX2
|
[NCBI]
|
3.84982e-05
|
|
|
NHEJ1
|
[NCBI]
|
3.84982e-05
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
3.79245e-05
|
|
|
cerebellotrigeminal dermal dysplasia
|
[NCBI]
|
3.62901e-05
|
|
|
macrocephaly/autism syndrome
|
[NCBI]
|
3.62901e-05
|
|
|
cleft lip/palate with abnormal thumbs and microcephaly
|
[NCBI]
|
3.62901e-05
|
|
|
clark-baraitser syndrome
|
[NCBI]
|
3.62901e-05
|
|
|
encephalopathy, ethylmalonic
|
[NCBI]
|
3.62901e-05
|
|
|
ramon syndrome
|
[NCBI]
|
3.62901e-05
|
|
|
SMC
|
[NCBI]
|
3.62901e-05
|
|
|
hypogammaglobulinemia and isolated growth hormone deficiency, x-linked
|
[NCBI]
|
3.62901e-05
|
|
|
watson syndrome
|
[NCBI]
|
3.62901e-05
|
|
|
native american myopathy
|
[NCBI]
|
3.62901e-05
|
|
|
glycogen storage disease i
|
[NCBI]
|
3.60358e-05
|
|
|
CLCN3
|
[NCBI]
|
3.60084e-05
|
|
|
CSF2RA
|
[NCBI]
|
3.60084e-05
|
|
|
RCC1
|
[NCBI]
|
3.60084e-05
|
|
|
TTDN1
|
[NCBI]
|
3.40287e-05
|
|
|
F7R
|
[NCBI]
|
3.40287e-05
|
|
|
young-simpson syndrome
|
[NCBI]
|
3.36962e-05
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
3.36962e-05
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
3.36962e-05
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
3.36962e-05
|
|
|
valproate embryopathy, susceptibility to
|
[NCBI]
|
3.36962e-05
|
|
|
ichthyosiform erythroderma, corneal involvement, and deafness
|
[NCBI]
|
3.36962e-05
|
|
|
monosomy 1p36 syndrome
|
[NCBI]
|
3.36962e-05
|
|
|
NN
|
[NCBI]
|
3.36962e-05
|
|
|
diabetes mellitus, transient neonatal, 1
|
[NCBI]
|
3.36251e-05
|
|
|
IHH
|
[NCBI]
|
3.25594e-05
|
|
|
CDC25A
|
[NCBI]
|
3.23861e-05
|
|
|
HPD
|
[NCBI]
|
3.23861e-05
|
|
|
TKT
|
[NCBI]
|
3.23861e-05
|
|
|
CCNA2
|
[NCBI]
|
3.23861e-05
|
|
|
SLC39A4
|
[NCBI]
|
3.23861e-05
|
|
|
TFAP2C
|
[NCBI]
|
3.23861e-05
|
|
|
GRTH
|
[NCBI]
|
3.1493e-05
|
|
|
frontonasal dysplasia
|
[NCBI]
|
3.1493e-05
|
|
|
BDE
|
[NCBI]
|
3.1493e-05
|
|
|
WARBM
|
[NCBI]
|
3.1493e-05
|
|
|
CDC25C
|
[NCBI]
|
3.09831e-05
|
|
|
MAP2K1
|
[NCBI]
|
3.09831e-05
|
|
|
PAPSS2
|
[NCBI]
|
3.09831e-05
|
|
|
CALCR
|
[NCBI]
|
2.97592e-05
|
|
|
GALR1
|
[NCBI]
|
2.97592e-05
|
|
|
CD40
|
[NCBI]
|
2.97592e-05
|
|
|
SOCS2
|
[NCBI]
|
2.97592e-05
|
|
|
MCPH1
|
[NCBI]
|
2.97592e-05
|
|
|
SOX3
|
[NCBI]
|
2.97592e-05
|
|
|
ablepharon-macrostomia syndrome
|
[NCBI]
|
2.95818e-05
|
|
|
bartter syndrome, infantile, with sensorineural deafness
|
[NCBI]
|
2.95818e-05
|
|
|
OGD
|
[NCBI]
|
2.95818e-05
|
|
|
catel-manzke syndrome
|
[NCBI]
|
2.95818e-05
|
|
|
AIH2
|
[NCBI]
|
2.95818e-05
|
|
|
NYS1
|
[NCBI]
|
2.95818e-05
|
|
|
CDG2A
|
[NCBI]
|
2.95818e-05
|
|
|
GHSR
|
[NCBI]
|
2.86743e-05
|
|
|
IL23A
|
[NCBI]
|
2.86743e-05
|
|
|
RMRP
|
[NCBI]
|
2.86743e-05
|
|
|
BOCD
|
[NCBI]
|
2.78974e-05
|
|
|
LISX1
|
[NCBI]
|
2.78974e-05
|
|
|
BDA1
|
[NCBI]
|
2.78974e-05
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
2.78974e-05
|
|
|
acyl-coa dehydrogenase, short-chain, deficiency of
|
[NCBI]
|
2.78974e-05
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
2.78974e-05
|
|
|
CSA
|
[NCBI]
|
2.71327e-05
|
|
|
PAX5
|
[NCBI]
|
2.68175e-05
|
|
|
FOXP2
|
[NCBI]
|
2.68175e-05
|
|
|
GHRHR
|
[NCBI]
|
2.68175e-05
|
|
|
TSHB
|
[NCBI]
|
2.68175e-05
|
|
|
megalencephaly-cutis marmorata telangiectatica congenita
|
[NCBI]
|
2.63941e-05
|
|
|
noonan-like/multiple giant cell lesion syndrome
|
[NCBI]
|
2.63941e-05
|
|
|
complement component 5 deficiency
|
[NCBI]
|
2.63941e-05
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
2.63941e-05
|
|
|
gracile syndrome
|
[NCBI]
|
2.63941e-05
|
|
|
DLK1
|
[NCBI]
|
2.60101e-05
|
|
|
RTS
|
[NCBI]
|
2.56751e-05
|
|
|
BPES
|
[NCBI]
|
2.56751e-05
|
|
|
TS
|
[NCBI]
|
2.56457e-05
|
|
|
3-@beta-hydroxysteroid dehydrogenase, type ii, deficiency of
|
[NCBI]
|
2.52667e-05
|
|
|
CYP27B1
|
[NCBI]
|
2.52667e-05
|
|
|
ZS
|
[NCBI]
|
2.52536e-05
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
2.50389e-05
|
|
|
NGFB
|
[NCBI]
|
2.4721e-05
|
|
|
DBA
|
[NCBI]
|
2.46801e-05
|
|
|
EPO
|
[NCBI]
|
2.40397e-05
|
|
|
GK
|
[NCBI]
|
2.39367e-05
|
|
|
CDC2
|
[NCBI]
|
2.39367e-05
|
|
|
LRP2
|
[NCBI]
|
2.39367e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
2.39367e-05
|
|
|
BGN
|
[NCBI]
|
2.39367e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
2.38803e-05
|
|
|
multiple pterygium syndrome, lethal type
|
[NCBI]
|
2.38069e-05
|
|
|
PBT
|
[NCBI]
|
2.38069e-05
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
2.38069e-05
|
|
|
renal tubular acidosis, distal, with progressive nerve deafness
|
[NCBI]
|
2.38069e-05
|
|
|
IRF6
|
[NCBI]
|
2.33369e-05
|
|
|
VWS
|
[NCBI]
|
2.30402e-05
|
|
|
G6PT1
|
[NCBI]
|
2.27738e-05
|
|
|
tyrosine transaminase deficiency
|
[NCBI]
|
2.27738e-05
|
|
|
HHS
|
[NCBI]
|
2.26792e-05
|
|
|
BGLAP
|
[NCBI]
|
2.26525e-05
|
|
|
IL6
|
[NCBI]
|
2.2373e-05
|
|
|
CLS
|
[NCBI]
|
2.18447e-05
|
|
|
PROP1
|
[NCBI]
|
2.17417e-05
|
|
|
BDC
|
[NCBI]
|
2.16409e-05
|
|
|
OPD1
|
[NCBI]
|
2.16409e-05
|
|
|
feingold syndrome
|
[NCBI]
|
2.16409e-05
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
2.16409e-05
|
|
|
HPE3
|
[NCBI]
|
2.16409e-05
|
|
|
CRYAB
|
[NCBI]
|
2.12664e-05
|
|
|
DHCR7
|
[NCBI]
|
2.12664e-05
|
|
|
PTPN11
|
[NCBI]
|
2.08148e-05
|
|
|
HMGA2
|
[NCBI]
|
2.08148e-05
|
|
|
ATR
|
[NCBI]
|
2.08148e-05
|
|
|
TBG
|
[NCBI]
|
2.08148e-05
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
2.06799e-05
|
|
|
COFS1
|
[NCBI]
|
2.06799e-05
|
|
|
marshall syndrome
|
[NCBI]
|
2.06799e-05
|
|
|
renal tubular acidosis, distal, autosomal dominant
|
[NCBI]
|
2.06799e-05
|
|
|
PWS
|
[NCBI]
|
2.0555e-05
|
|
|
PANK2
|
[NCBI]
|
2.03847e-05
|
|
|
VDR
|
[NCBI]
|
2.02787e-05
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
2.01088e-05
|
|
|
NF1
|
[NCBI]
|
2.00223e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
2.00076e-05
|
|
|
galactose epimerase deficiency
|
[NCBI]
|
1.97865e-05
|
|
|
pearson marrow-pancreas syndrome
|
[NCBI]
|
1.97865e-05
|
|
|
OPPG
|
[NCBI]
|
1.97865e-05
|
|
|
PITX2
|
[NCBI]
|
1.92062e-05
|
|
|
hyperlipoproteinemia, type i
|
[NCBI]
|
1.89529e-05
|
|
|
anemia, dyserythropoietic congenital, type i
|
[NCBI]
|
1.89529e-05
|
|
|
pycnodysostosis
|
[NCBI]
|
1.89529e-05
|
|
|
FMD
|
[NCBI]
|
1.89529e-05
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
1.89529e-05
|
|
|
NBS1
|
[NCBI]
|
1.84994e-05
|
|
|
BTC
|
[NCBI]
|
1.84994e-05
|
|
|
MCPH1
|
[NCBI]
|
1.81724e-05
|
|
|
CDPX1
|
[NCBI]
|
1.81724e-05
|
|
|
PPOX
|
[NCBI]
|
1.81662e-05
|
|
|
CAV3
|
[NCBI]
|
1.81662e-05
|
|
|
HGPS
|
[NCBI]
|
1.80265e-05
|
|
|
IGF2
|
[NCBI]
|
1.78453e-05
|
|
|
LPI
|
[NCBI]
|
1.77174e-05
|
|
|
ABCA1
|
[NCBI]
|
1.75359e-05
|
|
|
UMS
|
[NCBI]
|
1.74393e-05
|
|
|
PHA2
|
[NCBI]
|
1.74393e-05
|
|
|
alexander disease
|
[NCBI]
|
1.74393e-05
|
|
|
GNRHR
|
[NCBI]
|
1.72371e-05
|
|
|
PCNA
|
[NCBI]
|
1.7078e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
1.67489e-05
|
|
|
RHS
|
[NCBI]
|
1.67489e-05
|
|
|
XPA
|
[NCBI]
|
1.6669e-05
|
|
|
GLB1
|
[NCBI]
|
1.6669e-05
|
|
|
GSR
|
[NCBI]
|
1.6669e-05
|
|
|
PCD
|
[NCBI]
|
1.65649e-05
|
|
|
SPCH1
|
[NCBI]
|
1.60972e-05
|
|
|
FLNA
|
[NCBI]
|
1.58822e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
1.56355e-05
|
|
|
COMP
|
[NCBI]
|
1.55005e-05
|
|
|
MNS
|
[NCBI]
|
1.54806e-05
|
|
|
PPAC
|
[NCBI]
|
1.54806e-05
|
|
|
CSID
|
[NCBI]
|
1.54806e-05
|
|
|
CCD
|
[NCBI]
|
1.54357e-05
|
|
|
BRAF
|
[NCBI]
|
1.53958e-05
|
|
|
JBS
|
[NCBI]
|
1.48961e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
1.45009e-05
|
|
|
lipomatosis, multiple
|
[NCBI]
|
1.44953e-05
|
|
|
MAFD6
|
[NCBI]
|
1.44953e-05
|
|
|
THRB
|
[NCBI]
|
1.3505e-05
|
|
|
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant
|
[NCBI]
|
1.33098e-05
|
|
|
POF1
|
[NCBI]
|
1.33098e-05
|
|
|
polycystic kidneys
|
[NCBI]
|
1.3103e-05
|
|
|
EGF
|
[NCBI]
|
1.29287e-05
|
|
|
RIEG1
|
[NCBI]
|
1.28298e-05
|
|
|
phenylketonuria
|
[NCBI]
|
1.28057e-05
|
|
|
AFP
|
[NCBI]
|
1.27485e-05
|
|
|
CD
|
[NCBI]
|
1.27057e-05
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
1.26198e-05
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
1.2607e-05
|
|
|
FGFR3
|
[NCBI]
|
1.25415e-05
|
|
|
OKS
|
[NCBI]
|
1.19327e-05
|
|
|
AHO
|
[NCBI]
|
1.1915e-05
|
|
|
ELN
|
[NCBI]
|
1.15292e-05
|
|
|
CHNG2
|
[NCBI]
|
1.15127e-05
|
|
|
LCA1
|
[NCBI]
|
1.15127e-05
|
|
|
PRL
|
[NCBI]
|
1.13711e-05
|
|
|
SMS
|
[NCBI]
|
1.07298e-05
|
|
|
CRH
|
[NCBI]
|
1.03875e-05
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
1.03265e-05
|
|
|
PFIC1
|
[NCBI]
|
9.99701e-06
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
9.99701e-06
|
|
|
HCH
|
[NCBI]
|
9.99701e-06
|
|
|
MDLS
|
[NCBI]
|
9.65431e-06
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
9.65431e-06
|
|
|
COL2A1
|
[NCBI]
|
9.40411e-06
|
|
|
MVP
|
[NCBI]
|
9.32835e-06
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
9.32449e-06
|
|
|
AT
|
[NCBI]
|
9.03085e-06
|
|
|
GNAS
|
[NCBI]
|
8.88451e-06
|
|
|
PPARG
|
[NCBI]
|
8.68742e-06
|
|
|
ACHE
|
[NCBI]
|
8.02376e-06
|
|
|
TH
|
[NCBI]
|
7.9374e-06
|
|
|
holoprosencephaly
|
[NCBI]
|
7.91781e-06
|
|
|
LMNA
|
[NCBI]
|
7.69873e-06
|
|
|
JAK2
|
[NCBI]
|
7.61604e-06
|
|
|
SHH
|
[NCBI]
|
7.50282e-06
|
|
|
SCS
|
[NCBI]
|
7.07606e-06
|
|
|
CDK2
|
[NCBI]
|
6.91839e-06
|
|
|
SJS1
|
[NCBI]
|
6.83634e-06
|
|
|
LPL
|
[NCBI]
|
6.7528e-06
|
|
|
FBN1
|
[NCBI]
|
6.63282e-06
|
|
|
CDG1A
|
[NCBI]
|
6.16287e-06
|
|
|
BDNF
|
[NCBI]
|
5.99052e-06
|
|
|
ALB
|
[NCBI]
|
5.93349e-06
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
5.74888e-06
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
5.36035e-06
|
|
|
PDS
|
[NCBI]
|
4.99537e-06
|
|
|
mucolipidosis ii
|
[NCBI]
|
4.82117e-06
|
|
|
RTT
|
[NCBI]
|
4.81199e-06
|
|
|
AMH
|
[NCBI]
|
4.52853e-06
|
|
|
PTH
|
[NCBI]
|
4.25146e-06
|
|
|
HHF2
|
[NCBI]
|
4.17524e-06
|
|
|
BRRS
|
[NCBI]
|
4.17524e-06
|
|
|
MHS1
|
[NCBI]
|
4.02561e-06
|
|
|
MFS
|
[NCBI]
|
3.98134e-06
|
|
|
RSTS
|
[NCBI]
|
3.88042e-06
|
|
|
PTHLH
|
[NCBI]
|
2.82342e-06
|
|
|
NPPA
|
[NCBI]
|
2.74215e-06
|
|
|
BLM
|
[NCBI]
|
2.2437e-06
|
|
|
IBD1
|
[NCBI]
|
2.15098e-06
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
2.14784e-06
|
|
|
ADA
|
[NCBI]
|
2.10562e-06
|
|
|
gaucher disease, type i
|
[NCBI]
|
1.97379e-06
|
|
|
AOS
|
[NCBI]
|
1.57399e-06
|
|
|
HBB
|
[NCBI]
|
1.36666e-06
|
|
|
SHBG
|
[NCBI]
|
1.24233e-06
|
|
|
FA
|
[NCBI]
|
9.47394e-07
|
|
|
DMD
|
[NCBI]
|
9.4416e-07
|
|
|
DGS
|
[NCBI]
|
8.14609e-07
|
|
|
HD
|
[NCBI]
|
7.80486e-07
|
|
|
AS
|
[NCBI]
|
7.14518e-07
|
|
|
APS1
|
[NCBI]
|
5.07112e-07
|
|
|
CFTR
|
[NCBI]
|
4.31733e-07
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
4.12098e-07
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
3.56637e-07
|
|
|
TTR
|
[NCBI]
|
3.42481e-07
|
|
|
NPY
|
[NCBI]
|
3.09699e-07
|
|
|
APOB
|
[NCBI]
|
2.67842e-07
|
|
|
KSS
|
[NCBI]
|
1.36148e-07
|
|
|
GDNF
|
[NCBI]
|
9.40313e-08
|
|
|
krabbe disease
|
[NCBI]
|
6.70605e-08
|
|
|
AVP
|
[NCBI]
|
2.2306e-08
|
|
|
BBS
|
[NCBI]
|
2.18102e-08
|
|
|
HSCR1
|
[NCBI]
|
2.06876e-09
|
|