|
OMIM |
Link |
Information gain |
01 |
|
VRNI
|
[NCBI]
|
0.0093087
|
|
|
RA
|
[NCBI]
|
0.00738612
|
|
|
microcephaly, autosomal dominant
|
[NCBI]
|
0.00506975
|
|
|
SLE
|
[NCBI]
|
0.00455231
|
|
|
CF
|
[NCBI]
|
0.00388761
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.00253117
|
|
|
HMN7A
|
[NCBI]
|
0.00253117
|
|
|
IS1
|
[NCBI]
|
0.00225279
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
0.0021088
|
|
|
VRCP
|
[NCBI]
|
0.00168663
|
|
|
spinal muscular atrophy, distal, congenital nonprogressive
|
[NCBI]
|
0.00168663
|
|
|
MPD2
|
[NCBI]
|
0.00168663
|
|
|
costovertebral segmentation anomalies
|
[NCBI]
|
0.00168663
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
0.00161391
|
|
|
macular edema, cystoid
|
[NCBI]
|
0.00161391
|
|
|
spinocerebellar ataxia 29
|
[NCBI]
|
0.00150204
|
|
|
branchiootic syndrome 2
|
[NCBI]
|
0.00126467
|
|
|
GLC1M
|
[NCBI]
|
0.00126467
|
|
|
MAFD6
|
[NCBI]
|
0.00125341
|
|
|
GLC1C
|
[NCBI]
|
0.00123028
|
|
|
scheuermann disease
|
[NCBI]
|
0.00123028
|
|
|
SCA4
|
[NCBI]
|
0.00123028
|
|
|
SRS
|
[NCBI]
|
0.0011992
|
|
|
gordon syndrome
|
[NCBI]
|
0.00116317
|
|
|
MCDR1
|
[NCBI]
|
0.00106828
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.00106269
|
|
|
fanconi renotubular syndrome
|
[NCBI]
|
0.00100064
|
|
|
microtia-anotia
|
[NCBI]
|
0.00100064
|
|
|
keratolytic winter erythema
|
[NCBI]
|
0.000856684
|
|
|
CNA1
|
[NCBI]
|
0.000856684
|
|
|
LGMD1D
|
[NCBI]
|
0.000856684
|
|
|
duodenal ulcer, hyperpepsinogenemic i
|
[NCBI]
|
0.000856684
|
|
|
laryngeal abductor paralysis
|
[NCBI]
|
0.000856684
|
|
|
epilepsy, nocturnal frontal lobe, type 2
|
[NCBI]
|
0.000856684
|
|
|
GSM1
|
[NCBI]
|
0.000856684
|
|
|
PTOS1
|
[NCBI]
|
0.000856684
|
|
|
acute myelogenous leukemia
|
[NCBI]
|
0.000842906
|
|
|
DFNA41
|
[NCBI]
|
0.000842906
|
|
|
necrotizing encephalopathy, acute, autosomal dominant
|
[NCBI]
|
0.000842906
|
|
|
ulnar hypoplasia
|
[NCBI]
|
0.000842906
|
|
|
earlobes, thickened, with conductive deafness from incudostapedial abnormalities
|
[NCBI]
|
0.000842906
|
|
|
uncombable hair syndrome
|
[NCBI]
|
0.000842906
|
|
|
hernia, hiatus
|
[NCBI]
|
0.000842906
|
|
|
NYS3
|
[NCBI]
|
0.000842906
|
|
|
MCOPCB2
|
[NCBI]
|
0.000842906
|
|
|
cleft palate-lateral synechia syndrome
|
[NCBI]
|
0.000842906
|
|
|
ptosis, hereditary congenital 2
|
[NCBI]
|
0.000842906
|
|
|
myopia 5
|
[NCBI]
|
0.000842906
|
|
|
HFH
|
[NCBI]
|
0.000842906
|
|
|
CRSA
|
[NCBI]
|
0.000842906
|
|
|
MPD3
|
[NCBI]
|
0.000842906
|
|
|
anorectal anomalies
|
[NCBI]
|
0.000842906
|
|
|
ataxia, sensory, autosomal dominant
|
[NCBI]
|
0.000842906
|
|
|
SCA20
|
[NCBI]
|
0.000842906
|
|
|
ocular hypotelorism, submucosal cleft palate, and hypospadias
|
[NCBI]
|
0.000842906
|
|
|
amelogenesis imperfecta, hypoplastic type
|
[NCBI]
|
0.000842906
|
|
|
mucoepithelial dysplasia, hereditary
|
[NCBI]
|
0.000842906
|
|
|
epilepsy, myoclonic, benign adult familial, type 2
|
[NCBI]
|
0.000842906
|
|
|
aase-smith syndrome i
|
[NCBI]
|
0.000842906
|
|
|
MACOM
|
[NCBI]
|
0.000842906
|
|
|
restless legs syndrome, susceptibility to, 2
|
[NCBI]
|
0.000842906
|
|
|
dermatoglyphics--fingerprint pattern
|
[NCBI]
|
0.000842906
|
|
|
johnson neuroectodermal syndrome
|
[NCBI]
|
0.000842906
|
|
|
fibromatosis, gingival, with progressive deafness
|
[NCBI]
|
0.000842906
|
|
|
triphalangeal thumbs with brachyectrodactyly
|
[NCBI]
|
0.000842906
|
|
|
ASD1
|
[NCBI]
|
0.00083906
|
|
|
duane retraction syndrome 2
|
[NCBI]
|
0.00083906
|
|
|
DA5
|
[NCBI]
|
0.00083906
|
|
|
SCA2
|
[NCBI]
|
0.000791457
|
|
|
SCA1
|
[NCBI]
|
0.000785853
|
|
|
AOS
|
[NCBI]
|
0.000756511
|
|
|
IDDM
|
[NCBI]
|
0.00070291
|
|
|
CRC
|
[NCBI]
|
0.000701736
|
|
|
RP1
|
[NCBI]
|
0.000690644
|
|
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
0.000665584
|
|
|
myopathy, tubular aggregate
|
[NCBI]
|
0.000665584
|
|
|
hypertelorism, teebi type
|
[NCBI]
|
0.000665584
|
|
|
OPA4
|
[NCBI]
|
0.000665584
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal dominant
|
[NCBI]
|
0.000665584
|
|
|
HLP
|
[NCBI]
|
0.000665584
|
|
|
hereditary motor and sensory neuropathy, type iic
|
[NCBI]
|
0.000665584
|
|
|
acromegaloid facial appearance syndrome
|
[NCBI]
|
0.000665584
|
|
|
nevi flammei, familial multiple
|
[NCBI]
|
0.000665584
|
|
|
deafness, progressive high-tone neural
|
[NCBI]
|
0.000665584
|
|
|
CLN4B
|
[NCBI]
|
0.000665584
|
|
|
HBD
|
[NCBI]
|
0.000665584
|
|
|
RP
|
[NCBI]
|
0.000636818
|
|
|
IBGC1
|
[NCBI]
|
0.00063018
|
|
|
RHO
|
[NCBI]
|
0.000584327
|
|
|
spondyloepimetaphyseal dysplasia with multiple dislocations
|
[NCBI]
|
0.000536068
|
|
|
EKD2
|
[NCBI]
|
0.000536068
|
|
|
CCA1
|
[NCBI]
|
0.000536068
|
|
|
blood group--lutheran inhibitor
|
[NCBI]
|
0.000536068
|
|
|
SHFLD1
|
[NCBI]
|
0.000533051
|
|
|
SPG3A
|
[NCBI]
|
0.000508534
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.000499958
|
|
|
telangiectasia, hereditary benign
|
[NCBI]
|
0.000499958
|
|
|
SHFLD2
|
[NCBI]
|
0.000499958
|
|
|
hip dysplasia, beukes type
|
[NCBI]
|
0.000499958
|
|
|
cavitary optic disc anomalies
|
[NCBI]
|
0.000499958
|
|
|
ATFB1
|
[NCBI]
|
0.000499958
|
|
|
acromial dimples
|
[NCBI]
|
0.000499958
|
|
|
erythrokeratodermia variabilis 3
|
[NCBI]
|
0.000499958
|
|
|
prostate cancer, hereditary, 3
|
[NCBI]
|
0.000499958
|
|
|
osteogenesis imperfecta, type v
|
[NCBI]
|
0.000499958
|
|
|
visceral neuropathy, familial, autosomal dominant
|
[NCBI]
|
0.000499958
|
|
|
pterygium, antecubital
|
[NCBI]
|
0.000499958
|
|
|
amyotrophic lateral sclerosis 6
|
[NCBI]
|
0.000499958
|
|
|
dermal ridges-off-the-end
|
[NCBI]
|
0.000499958
|
|
|
nystagmus, voluntary
|
[NCBI]
|
0.000499958
|
|
|
CMD1F
|
[NCBI]
|
0.000499958
|
|
|
FSHMD1A
|
[NCBI]
|
0.000497165
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
0.000496711
|
|
|
cataract-microcornea syndrome
|
[NCBI]
|
0.000472775
|
|
|
MJD
|
[NCBI]
|
0.000466613
|
|
|
AD
|
[NCBI]
|
0.000464264
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
0.000463527
|
|
|
OTSC1
|
[NCBI]
|
0.000463527
|
|
|
DFNA2
|
[NCBI]
|
0.00044149
|
|
|
renal failure, progressive, with hypertension
|
[NCBI]
|
0.000439529
|
|
|
NYS2
|
[NCBI]
|
0.000439529
|
|
|
HMN1
|
[NCBI]
|
0.000439529
|
|
|
QPD
|
[NCBI]
|
0.000439529
|
|
|
polycystic kidneys
|
[NCBI]
|
0.000426255
|
|
|
CJD
|
[NCBI]
|
0.000424553
|
|
|
OPA1
|
[NCBI]
|
0.000422629
|
|
|
MVP
|
[NCBI]
|
0.000421686
|
|
|
LAP
|
[NCBI]
|
0.000421351
|
|
|
anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
|
[NCBI]
|
0.000421351
|
|
|
muscle cramps, familial
|
[NCBI]
|
0.000421351
|
|
|
KTCN2
|
[NCBI]
|
0.000421351
|
|
|
adenosine triphosphatase deficiency, anemia due to
|
[NCBI]
|
0.000421351
|
|
|
polydactyly, preaxial iii
|
[NCBI]
|
0.000421351
|
|
|
dentin dysplasia with sclerotic bones
|
[NCBI]
|
0.000421351
|
|
|
KTCN3
|
[NCBI]
|
0.000421351
|
|
|
FMTLE
|
[NCBI]
|
0.000421351
|
|
|
brachydactyly, type a5, with nail dysplasia
|
[NCBI]
|
0.000421351
|
|
|
neuropathy, congenital, with arthrogryposis multiplex
|
[NCBI]
|
0.000421351
|
|
|
nephropathy, progressive, with deafness
|
[NCBI]
|
0.000421351
|
|
|
ameloonychohypohidrotic syndrome
|
[NCBI]
|
0.000421351
|
|
|
MCS
|
[NCBI]
|
0.000421351
|
|
|
DA4
|
[NCBI]
|
0.000421351
|
|
|
IS2
|
[NCBI]
|
0.000421351
|
|
|
HFA
|
[NCBI]
|
0.000421351
|
|
|
renal hypodysplasia, nonsyndromic, 1
|
[NCBI]
|
0.000421351
|
|
|
tear protein, anodal
|
[NCBI]
|
0.000421351
|
|
|
DFNA25
|
[NCBI]
|
0.000421351
|
|
|
preauricular tag, isolated, autosomal dominant, 1
|
[NCBI]
|
0.000421351
|
|
|
macroglossia
|
[NCBI]
|
0.000421351
|
|
|
synostosis, carpal, with dysplastic elbow joints and brachydactyly
|
[NCBI]
|
0.000421351
|
|
|
MMVP3
|
[NCBI]
|
0.000421351
|
|
|
migraine with aura, susceptibility to, 9
|
[NCBI]
|
0.000421351
|
|
|
mycobacterium tuberculosis, susceptibility to, 2
|
[NCBI]
|
0.000421351
|
|
|
cryoglobulinemia, familial mixed
|
[NCBI]
|
0.000421351
|
|
|
dystelephalangy
|
[NCBI]
|
0.000421351
|
|
|
flynn-aird syndrome
|
[NCBI]
|
0.000421351
|
|
|
LGMD1G
|
[NCBI]
|
0.000421351
|
|
|
EJM4
|
[NCBI]
|
0.000421351
|
|
|
dentin dysplasia, type i
|
[NCBI]
|
0.000421351
|
|
|
DFNB26
|
[NCBI]
|
0.000421351
|
|
|
DFNA49
|
[NCBI]
|
0.000421351
|
|
|
HV1S
|
[NCBI]
|
0.000421351
|
|
|
muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
|
[NCBI]
|
0.000421351
|
|
|
sebaceous gland hyperplasia, familial presenile
|
[NCBI]
|
0.000421351
|
|
|
woolly hair, autosomal dominant
|
[NCBI]
|
0.000421351
|
|
|
DFNA16
|
[NCBI]
|
0.000421351
|
|
|
metaphyseal dysplasia, braun-tinschert type
|
[NCBI]
|
0.000421351
|
|
|
hodgkin disease, y-linked pseudoautosomal
|
[NCBI]
|
0.000421351
|
|
|
SCA23
|
[NCBI]
|
0.000421351
|
|
|
otodental dysplasia
|
[NCBI]
|
0.000421351
|
|
|
basaloid follicular hamartoma syndrome, generalized, autosomal dominant
|
[NCBI]
|
0.000421351
|
|
|
DFNA30
|
[NCBI]
|
0.000421351
|
|
|
comedones, familial dyskeratotic
|
[NCBI]
|
0.000421351
|
|
|
graying of hair, precocious
|
[NCBI]
|
0.000421351
|
|
|
vertebral hypoplasia with lumbar kyphosis
|
[NCBI]
|
0.000421351
|
|
|
cataract, crystalline coralliform
|
[NCBI]
|
0.000421351
|
|
|
bundle branch block, familial isolated complete right
|
[NCBI]
|
0.000421351
|
|
|
patella, familial recurrent dislocation of
|
[NCBI]
|
0.000421351
|
|
|
hypotrichosis simplex
|
[NCBI]
|
0.000421351
|
|
|
ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease
|
[NCBI]
|
0.000421351
|
|
|
amyotrophic lateral sclerosis 7
|
[NCBI]
|
0.000421351
|
|
|
cataract, nuclear progressive
|
[NCBI]
|
0.000421351
|
|
|
cornea guttata with anterior polar cataracts
|
[NCBI]
|
0.000421351
|
|
|
palpebral coloboma-lipoma syndrome
|
[NCBI]
|
0.000421351
|
|
|
aneurysm, intracranial berry, 4
|
[NCBI]
|
0.000421351
|
|
|
mycobacterium tuberculosis, susceptibility to, 1
|
[NCBI]
|
0.000421351
|
|
|
noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2
|
[NCBI]
|
0.000421351
|
|
|
myopia 11
|
[NCBI]
|
0.000421351
|
|
|
aphalangia, partial, with syndactyly and duplication of metatarsal iv
|
[NCBI]
|
0.000421351
|
|
|
RP33
|
[NCBI]
|
0.000421351
|
|
|
pseudomonilethrix
|
[NCBI]
|
0.000421351
|
|
|
S EYE
|
[NCBI]
|
0.000421351
|
|
|
ureter, bifid or double
|
[NCBI]
|
0.000421351
|
|
|
myoglobinuria, autosomal dominant
|
[NCBI]
|
0.000421351
|
|
|
DFNA52
|
[NCBI]
|
0.000421351
|
|
|
SCA18
|
[NCBI]
|
0.000421351
|
|
|
MMVP2
|
[NCBI]
|
0.000421351
|
|
|
DFNA47
|
[NCBI]
|
0.000421351
|
|
|
joint laxity, familial
|
[NCBI]
|
0.000421351
|
|
|
SCA28
|
[NCBI]
|
0.000421351
|
|
|
DFNA43
|
[NCBI]
|
0.000421351
|
|
|
spinal arachnoiditis
|
[NCBI]
|
0.000421351
|
|
|
DFNM1
|
[NCBI]
|
0.000421351
|
|
|
maxillofacial dysostosis
|
[NCBI]
|
0.000421351
|
|
|
autoimmune thyroid disease, susceptibility to, 4
|
[NCBI]
|
0.000421351
|
|
|
lip, median nodule of upper
|
[NCBI]
|
0.000421351
|
|
|
high density lipoprotein deficiency 3
|
[NCBI]
|
0.000421351
|
|
|
ADSD
|
[NCBI]
|
0.000421351
|
|
|
bleeding disorder, east texas type
|
[NCBI]
|
0.000421351
|
|
|
DFNA24
|
[NCBI]
|
0.000421351
|
|
|
radial heads, posterior dislocation of
|
[NCBI]
|
0.000421351
|
|
|
triphalangeal thumb, nonopposable
|
[NCBI]
|
0.000421351
|
|
|
undritz anomaly
|
[NCBI]
|
0.000421351
|
|
|
callosities, hereditary painful
|
[NCBI]
|
0.000421351
|
|
|
vasculitis, lymphocytic, cutaneous small vessel
|
[NCBI]
|
0.000421351
|
|
|
UL
|
[NCBI]
|
0.000421351
|
|
|
myopia 12
|
[NCBI]
|
0.000421351
|
|
|
camptobrachydactyly
|
[NCBI]
|
0.000421351
|
|
|
xanthomatosis, susceptibility to
|
[NCBI]
|
0.000421351
|
|
|
DYT4
|
[NCBI]
|
0.000421351
|
|
|
adiposis dolorosa
|
[NCBI]
|
0.000421351
|
|
|
czech dysplasia, metatarsal type
|
[NCBI]
|
0.000421351
|
|
|
DFNA53
|
[NCBI]
|
0.000421351
|
|
|
DFNA31
|
[NCBI]
|
0.000421351
|
|
|
RP10
|
[NCBI]
|
0.000413086
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
|
[NCBI]
|
0.000409863
|
|
|
DYT1
|
[NCBI]
|
0.000408602
|
|
|
EDMD2
|
[NCBI]
|
0.000392045
|
|
|
PEE1
|
[NCBI]
|
0.000384998
|
|
|
EEC1
|
[NCBI]
|
0.000384658
|
|
|
MAFD1
|
[NCBI]
|
0.000379625
|
|
|
BOR1
|
[NCBI]
|
0.00037912
|
|
|
epidermolysis bullosa dystrophica, pasini type
|
[NCBI]
|
0.000378661
|
|
|
OPTA2
|
[NCBI]
|
0.000378661
|
|
|
SHFM3
|
[NCBI]
|
0.000364259
|
|
|
microtia with meatal atresia and conductive deafness
|
[NCBI]
|
0.000363909
|
|
|
CTS1
|
[NCBI]
|
0.000363909
|
|
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
0.000363909
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000363909
|
|
|
EXT3
|
[NCBI]
|
0.000357222
|
|
|
sprengel deformity
|
[NCBI]
|
0.000357222
|
|
|
ICCA
|
[NCBI]
|
0.000357222
|
|
|
candidiasis, familial chronic mucocutaneous, autosomal dominant
|
[NCBI]
|
0.000357222
|
|
|
charcot-marie-tooth disease, dominant intermediate a
|
[NCBI]
|
0.000357222
|
|
|
nipples, supernumerary
|
[NCBI]
|
0.000357222
|
|
|
EA4
|
[NCBI]
|
0.000357222
|
|
|
FPLD1
|
[NCBI]
|
0.000357222
|
|
|
dermal ridges, patternless
|
[NCBI]
|
0.000357222
|
|
|
SCA19
|
[NCBI]
|
0.000357222
|
|
|
EVR3
|
[NCBI]
|
0.000357222
|
|
|
ARVD3
|
[NCBI]
|
0.000357222
|
|
|
amyotrophy, neurogenic scapuloperoneal, new england type
|
[NCBI]
|
0.000357222
|
|
|
kbg syndrome
|
[NCBI]
|
0.000357222
|
|
|
ARVD4
|
[NCBI]
|
0.000357222
|
|
|
SCA6
|
[NCBI]
|
0.000352627
|
|
|
MRD
|
[NCBI]
|
0.00035252
|
|
|
spinocerebellar ataxia, 16q22-linked
|
[NCBI]
|
0.000352488
|
|
|
bethlem myopathy
|
[NCBI]
|
0.000351587
|
|
|
ED3
|
[NCBI]
|
0.000337657
|
|
|
SPG4
|
[NCBI]
|
0.000330363
|
|
|
CDPX2
|
[NCBI]
|
0.000323369
|
|
|
epilepsy, nocturnal frontal lobe, type 1
|
[NCBI]
|
0.000316482
|
|
|
PWS
|
[NCBI]
|
0.000314926
|
|
|
EVR1
|
[NCBI]
|
0.000311149
|
|
|
VWS
|
[NCBI]
|
0.000309809
|
|
|
MYP2
|
[NCBI]
|
0.000307599
|
|
|
SHFM1
|
[NCBI]
|
0.000303053
|
|
|
SCZD7
|
[NCBI]
|
0.000302837
|
|
|
BPES
|
[NCBI]
|
0.000300398
|
|
|
CMT1B
|
[NCBI]
|
0.000300197
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000299066
|
|
|
VUR1
|
[NCBI]
|
0.000291942
|
|
|
PNKD1
|
[NCBI]
|
0.00029183
|
|
|
restless legs syndrome, susceptibility to, 1
|
[NCBI]
|
0.000290151
|
|
|
trichodentoosseous syndrome
|
[NCBI]
|
0.000283253
|
|
|
osteomesopyknosis
|
[NCBI]
|
0.00027011
|
|
|
RP18
|
[NCBI]
|
0.00027011
|
|
|
RIEG1
|
[NCBI]
|
0.000269848
|
|
|
SPG12
|
[NCBI]
|
0.000266254
|
|
|
graves disease, susceptibility to, 2
|
[NCBI]
|
0.000266254
|
|
|
migraine, familial typical, susceptibility to, 2
|
[NCBI]
|
0.000266254
|
|
|
ETM2
|
[NCBI]
|
0.000266254
|
|
|
AUTS5
|
[NCBI]
|
0.000266254
|
|
|
CMD1B
|
[NCBI]
|
0.000266254
|
|
|
EFMR
|
[NCBI]
|
0.000266254
|
|
|
CORD7
|
[NCBI]
|
0.000266254
|
|
|
CTPP1
|
[NCBI]
|
0.000266254
|
|
|
molar i reinclusion
|
[NCBI]
|
0.000266254
|
|
|
DYT7
|
[NCBI]
|
0.000266254
|
|
|
parkinsonism with alveolar hypoventilation and mental depression
|
[NCBI]
|
0.000266254
|
|
|
HTC2
|
[NCBI]
|
0.000266254
|
|
|
CMDD
|
[NCBI]
|
0.000259389
|
|
|
RP11
|
[NCBI]
|
0.000256866
|
|
|
LGMD1A
|
[NCBI]
|
0.000256866
|
|
|
IRID2
|
[NCBI]
|
0.000256866
|
|
|
DFNA12
|
[NCBI]
|
0.000256866
|
|
|
RP9
|
[NCBI]
|
0.000255154
|
|
|
charcot-marie-tooth disease, dominant intermediate b
|
[NCBI]
|
0.000255154
|
|
|
hypotrichosis simplex of scalp
|
[NCBI]
|
0.000255154
|
|
|
ZLS
|
[NCBI]
|
0.000252502
|
|
|
HOS
|
[NCBI]
|
0.000250411
|
|
|
CORD2
|
[NCBI]
|
0.000249021
|
|
|
SCA7
|
[NCBI]
|
0.000238298
|
|
|
MHA
|
[NCBI]
|
0.000238253
|
|
|
myoclonic dystonia
|
[NCBI]
|
0.000231729
|
|
|
FTNS
|
[NCBI]
|
0.00023035
|
|
|
MAFD2
|
[NCBI]
|
0.000227161
|
|
|
KCNQ4
|
[NCBI]
|
0.000224535
|
|
|
sotos syndrome
|
[NCBI]
|
0.000222402
|
|
|
FIH
|
[NCBI]
|
0.000221212
|
|
|
RP7
|
[NCBI]
|
0.000220683
|
|
|
hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
|
[NCBI]
|
0.000220683
|
|
|
SPG4
|
[NCBI]
|
0.000217493
|
|
|
cutis laxa, autosomal dominant
|
[NCBI]
|
0.00021659
|
|
|
HMN2A
|
[NCBI]
|
0.00021659
|
|
|
DFNA3
|
[NCBI]
|
0.00021659
|
|
|
CASR
|
[NCBI]
|
0.000215791
|
|
|
COL7A1
|
[NCBI]
|
0.000213327
|
|
|
WDM
|
[NCBI]
|
0.00021043
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
0.00021043
|
|
|
BHC
|
[NCBI]
|
0.000209256
|
|
|
ADLTE
|
[NCBI]
|
0.000209256
|
|
|
myotonia congenita, autosomal dominant
|
[NCBI]
|
0.000209256
|
|
|
pelvis-shoulder dysplasia
|
[NCBI]
|
0.000202571
|
|
|
brachydactyly, preaxial, with hallux varus and thumb abduction
|
[NCBI]
|
0.000202571
|
|
|
trichoepithelioma, multiple familial
|
[NCBI]
|
0.000201776
|
|
|
PFHB1B
|
[NCBI]
|
0.000201776
|
|
|
HCFP1
|
[NCBI]
|
0.000201776
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
0.000201776
|
|
|
hereditary motor and sensory neuropathy v
|
[NCBI]
|
0.000201776
|
|
|
vestibulopathy, familial
|
[NCBI]
|
0.000201776
|
|
|
STHAG4
|
[NCBI]
|
0.000201776
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
0.000199742
|
|
|
COL2A1
|
[NCBI]
|
0.000198942
|
|
|
SVAS
|
[NCBI]
|
0.000198075
|
|
|
RP13
|
[NCBI]
|
0.000194996
|
|
|
myopathy, centronuclear, autosomal dominant
|
[NCBI]
|
0.000194996
|
|
|
CLCN1
|
[NCBI]
|
0.000194782
|
|
|
PKD1
|
[NCBI]
|
0.000191403
|
|
|
feingold syndrome
|
[NCBI]
|
0.000190012
|
|
|
VMD
|
[NCBI]
|
0.000189717
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.000188973
|
|
|
central core disease of muscle
|
[NCBI]
|
0.000188374
|
|
|
MNS
|
[NCBI]
|
0.000184066
|
|
|
CDLS1
|
[NCBI]
|
0.000180351
|
|
|
HPE2
|
[NCBI]
|
0.000179268
|
|
|
PPD2
|
[NCBI]
|
0.000179268
|
|
|
neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux
|
[NCBI]
|
0.000178533
|
|
|
EA3
|
[NCBI]
|
0.000178533
|
|
|
dyskinesia, familial, with facial myokymia
|
[NCBI]
|
0.000178533
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000178533
|
|
|
myopia 9
|
[NCBI]
|
0.000178533
|
|
|
CMD1H
|
[NCBI]
|
0.000178533
|
|
|
myopia 7
|
[NCBI]
|
0.000178533
|
|
|
angioma serpiginosum, x-linked
|
[NCBI]
|
0.000178533
|
|
|
convulsions, benign familial infantile, 2
|
[NCBI]
|
0.000178533
|
|
|
lentiginosis, inherited patterned
|
[NCBI]
|
0.000178533
|
|
|
HCFP2
|
[NCBI]
|
0.000178533
|
|
|
HHF7
|
[NCBI]
|
0.000178533
|
|
|
CHNG3
|
[NCBI]
|
0.000178533
|
|
|
CMD1K
|
[NCBI]
|
0.000178533
|
|
|
dibasicaminoaciduria i
|
[NCBI]
|
0.000178533
|
|
|
acromicric dysplasia
|
[NCBI]
|
0.000178533
|
|
|
SCA25
|
[NCBI]
|
0.000178533
|
|
|
osteoarthropathy of fingers, familial
|
[NCBI]
|
0.000178533
|
|
|
WS2B
|
[NCBI]
|
0.000178533
|
|
|
CMT2G
|
[NCBI]
|
0.000178533
|
|
|
thyroid carcinoma, nonmedullary 1
|
[NCBI]
|
0.000178533
|
|
|
FSHMD1B
|
[NCBI]
|
0.000178533
|
|
|
angioma, hereditary neurocutaneous
|
[NCBI]
|
0.000178533
|
|
|
SPAX1
|
[NCBI]
|
0.000178533
|
|
|
LGMD1F
|
[NCBI]
|
0.000178533
|
|
|
DFNA18
|
[NCBI]
|
0.000178533
|
|
|
polysyndactyly, crossed
|
[NCBI]
|
0.000178533
|
|
|
myopia 8
|
[NCBI]
|
0.000178533
|
|
|
cryptophthalmos, unilateral or bilateral, isolated
|
[NCBI]
|
0.000178533
|
|
|
nevus flammeus of nape of neck
|
[NCBI]
|
0.000178533
|
|
|
FTSD
|
[NCBI]
|
0.000178533
|
|
|
symphalangism, distal
|
[NCBI]
|
0.000178533
|
|
|
polymicrogyria, unilateral
|
[NCBI]
|
0.000178533
|
|
|
keratitis fugax hereditaria
|
[NCBI]
|
0.000178533
|
|
|
MCOPCT1
|
[NCBI]
|
0.000178533
|
|
|
HDL3
|
[NCBI]
|
0.000178533
|
|
|
basal ganglia calcification, idiopathic, 2
|
[NCBI]
|
0.000178533
|
|
|
PTLAH
|
[NCBI]
|
0.000178533
|
|
|
DFNA7
|
[NCBI]
|
0.000178533
|
|
|
obesity, susceptibility to, on chromosome 4
|
[NCBI]
|
0.000178533
|
|
|
acne inversa, familial
|
[NCBI]
|
0.000178533
|
|
|
hyperpigmentation, familial progressive
|
[NCBI]
|
0.000178533
|
|
|
orthostatic hypotensive disorder, streeten type
|
[NCBI]
|
0.000178533
|
|
|
spinocerebellar ataxia with rigidity and peripheral neuropathy
|
[NCBI]
|
0.000178533
|
|
|
membranous cranial ossification, delayed
|
[NCBI]
|
0.000178533
|
|
|
pyloric stenosis, infantile hypertrophic, 2
|
[NCBI]
|
0.000178533
|
|
|
protrusio acetabuli
|
[NCBI]
|
0.000178533
|
|
|
nablus mask-like facial syndrome
|
[NCBI]
|
0.000178533
|
|
|
alacrima, congenital
|
[NCBI]
|
0.000178533
|
|
|
ENUR2
|
[NCBI]
|
0.000178533
|
|
|
candidiasis, familial chronic mucocutaneous, autosomal dominant, with thyroid disease
|
[NCBI]
|
0.000178533
|
|
|
blue rubber bleb nevus
|
[NCBI]
|
0.000178533
|
|
|
nail dysplasia
|
[NCBI]
|
0.000178533
|
|
|
GLC1I
|
[NCBI]
|
0.000178533
|
|
|
myopia 10
|
[NCBI]
|
0.000178533
|
|
|
epilepsy, partial, with variable foci
|
[NCBI]
|
0.000178533
|
|
|
brachial palsy, familial congenital
|
[NCBI]
|
0.000178533
|
|
|
blepharocheilodontic syndrome
|
[NCBI]
|
0.000178533
|
|
|
myopia 4
|
[NCBI]
|
0.000178533
|
|
|
ENUR1
|
[NCBI]
|
0.000178533
|
|
|
giant axonal neuropathy, autosomal dominant
|
[NCBI]
|
0.000178533
|
|
|
aneurysm, intracranial berry, 3
|
[NCBI]
|
0.000178533
|
|
|
AUTS8
|
[NCBI]
|
0.000178533
|
|
|
spinal muscular atrophy, facioscapulohumeral type
|
[NCBI]
|
0.000178533
|
|
|
DYX9
|
[NCBI]
|
0.000178533
|
|
|
atresia of external auditory canal and conduction deafness
|
[NCBI]
|
0.000178533
|
|
|
MNG2
|
[NCBI]
|
0.000178533
|
|
|
CMTX1
|
[NCBI]
|
0.000177874
|
|
|
STHAG3
|
[NCBI]
|
0.000176438
|
|
|
SCA5
|
[NCBI]
|
0.000176438
|
|
|
ALS4
|
[NCBI]
|
0.000176438
|
|
|
ichthyosis, bullous type
|
[NCBI]
|
0.000176438
|
|
|
naegeli syndrome
|
[NCBI]
|
0.000176438
|
|
|
atrial septal defect with atrioventricular conduction defects
|
[NCBI]
|
0.000176438
|
|
|
DYT2
|
[NCBI]
|
0.000174923
|
|
|
SCA10
|
[NCBI]
|
0.000170239
|
|
|
THC2
|
[NCBI]
|
0.000169724
|
|
|
PRL
|
[NCBI]
|
0.000166024
|
|
|
CCM
|
[NCBI]
|
0.000164372
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
0.000161815
|
|
|
AIH2
|
[NCBI]
|
0.000161815
|
|
|
EA1
|
[NCBI]
|
0.000161149
|
|
|
STGD3
|
[NCBI]
|
0.000161149
|
|
|
HMN5
|
[NCBI]
|
0.000161149
|
|
|
MPZ
|
[NCBI]
|
0.000159259
|
|
|
CORD6
|
[NCBI]
|
0.000158207
|
|
|
weill-marchesani syndrome, autosomal dominant
|
[NCBI]
|
0.000158207
|
|
|
corneal fleck dystrophy
|
[NCBI]
|
0.000158207
|
|
|
DPR
|
[NCBI]
|
0.000158207
|
|
|
SCA13
|
[NCBI]
|
0.000158207
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
0.000158207
|
|
|
FPLD2
|
[NCBI]
|
0.000157809
|
|
|
PD
|
[NCBI]
|
0.000157796
|
|
|
hypotrichosis, marie unna type
|
[NCBI]
|
0.000153605
|
|
|
acrodysostosis
|
[NCBI]
|
0.000153605
|
|
|
CFEOM3
|
[NCBI]
|
0.000153605
|
|
|
thyroid carcinoma, nonmedullary, with or without cell oxyphilia
|
[NCBI]
|
0.000153605
|
|
|
MNG1
|
[NCBI]
|
0.000153605
|
|
|
periodic fever, familial, autosomal dominant
|
[NCBI]
|
0.000153473
|
|
|
tibial muscular dystrophy, tardive
|
[NCBI]
|
0.000153372
|
|
|
SYNS1
|
[NCBI]
|
0.000149744
|
|
|
SBS
|
[NCBI]
|
0.000149744
|
|
|
currarino syndrome
|
[NCBI]
|
0.000149744
|
|
|
DFNA9
|
[NCBI]
|
0.000149744
|
|
|
ADHR
|
[NCBI]
|
0.000149744
|
|
|
dyskeratosis congenita, autosomal dominant
|
[NCBI]
|
0.000149744
|
|
|
DDD
|
[NCBI]
|
0.000149744
|
|
|
CMT2D
|
[NCBI]
|
0.000149744
|
|
|
autism
|
[NCBI]
|
0.000149103
|
|
|
pseudoxanthoma elasticum, forme fruste
|
[NCBI]
|
0.000146265
|
|
|
CMD1A
|
[NCBI]
|
0.000145316
|
|
|
MCKD1
|
[NCBI]
|
0.000144758
|
|
|
TECTA
|
[NCBI]
|
0.000144423
|
|
|
LQT1
|
[NCBI]
|
0.00014339
|
|
|
ODDD
|
[NCBI]
|
0.000142489
|
|
|
PRPH2
|
[NCBI]
|
0.000142031
|
|
|
CADASIL
|
[NCBI]
|
0.000141472
|
|
|
SPG3A
|
[NCBI]
|
0.000140889
|
|
|
DHRD
|
[NCBI]
|
0.000139729
|
|
|
PCS
|
[NCBI]
|
0.000139476
|
|
|
erythermalgia, primary
|
[NCBI]
|
0.000139476
|
|
|
DA1
|
[NCBI]
|
0.000139476
|
|
|
PBT
|
[NCBI]
|
0.000139476
|
|
|
PCOS1
|
[NCBI]
|
0.000139341
|
|
|
TNF
|
[NCBI]
|
0.000137558
|
|
|
ALSG
|
[NCBI]
|
0.000136554
|
|
|
CSCD
|
[NCBI]
|
0.000136554
|
|
|
vasculopathy, retinal, with cerebral leukodystrophy
|
[NCBI]
|
0.000136554
|
|
|
chorioretinal dysplasia-microcephaly-mental retardation syndrome
|
[NCBI]
|
0.000136554
|
|
|
EDM3
|
[NCBI]
|
0.000136554
|
|
|
GDD
|
[NCBI]
|
0.000136554
|
|
|
weyers acrofacial dysostosis
|
[NCBI]
|
0.000136554
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
0.000136554
|
|
|
AIHHT
|
[NCBI]
|
0.000136554
|
|
|
ichthyosis, lamellar, autosomal dominant
|
[NCBI]
|
0.000136554
|
|
|
prostate cancer
|
[NCBI]
|
0.000135445
|
|
|
hypertrichosis, anterior cervical
|
[NCBI]
|
0.000135039
|
|
|
acrofacial dysostosis, catania type
|
[NCBI]
|
0.000135039
|
|
|
scapuloperoneal myopathy, x-linked dominant
|
[NCBI]
|
0.000135039
|
|
|
coloboma, uveal, with cleft lip and palate and mental retardation
|
[NCBI]
|
0.000135039
|
|
|
radiation sensitivity of natural killer activity
|
[NCBI]
|
0.000135039
|
|
|
cataract, lamellar 2
|
[NCBI]
|
0.000135039
|
|
|
ear pits, posterior helical
|
[NCBI]
|
0.000135039
|
|
|
epiphyseal dysplasia, multiple, with myopia and conductive deafness
|
[NCBI]
|
0.000135039
|
|
|
charcot-marie-tooth disease, axonal, type 2l
|
[NCBI]
|
0.000135039
|
|
|
myopathy, spheroid body
|
[NCBI]
|
0.000135039
|
|
|
coxoauricular syndrome
|
[NCBI]
|
0.000135039
|
|
|
cancer, familial, with in vitro radioresistance
|
[NCBI]
|
0.000135039
|
|
|
cerebellar ataxia, deafness, and narcolepsy
|
[NCBI]
|
0.000135039
|
|
|
cleft, median, of upper lip with polyps of facial skin and nasal mucosa
|
[NCBI]
|
0.000135039
|
|
|
thyroglossal duct cyst, familial
|
[NCBI]
|
0.000135039
|
|
|
tetramelic monodactyly
|
[NCBI]
|
0.000135039
|
|
|
ivic syndrome
|
[NCBI]
|
0.000135039
|
|
|
CCA3
|
[NCBI]
|
0.000135039
|
|
|
phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia
|
[NCBI]
|
0.000135039
|
|
|
xeroderma pigmentosum, autosomal dominant, mild
|
[NCBI]
|
0.000135039
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
0.000135027
|
|
|
FHM1
|
[NCBI]
|
0.000133369
|
|
|
DRPLA
|
[NCBI]
|
0.00013224
|
|
|
PKD2
|
[NCBI]
|
0.000132219
|
|
|
PMP22
|
[NCBI]
|
0.000131126
|
|
|
GLC1A
|
[NCBI]
|
0.000130764
|
|
|
ASMD
|
[NCBI]
|
0.000130556
|
|
|
SPG6
|
[NCBI]
|
0.000130556
|
|
|
SCA14
|
[NCBI]
|
0.000130556
|
|
|
WS3
|
[NCBI]
|
0.000130556
|
|
|
ichthyosis vulgaris
|
[NCBI]
|
0.000130556
|
|
|
VEGF
|
[NCBI]
|
0.000129101
|
|
|
HNA
|
[NCBI]
|
0.00012807
|
|
|
PCLD
|
[NCBI]
|
0.00012807
|
|
|
EBN1
|
[NCBI]
|
0.00012807
|
|
|
diabetes mellitus, transient neonatal, 1
|
[NCBI]
|
0.000127897
|
|
|
CD
|
[NCBI]
|
0.00012509
|
|
|
WAS
|
[NCBI]
|
0.000123656
|
|
|
HD
|
[NCBI]
|
0.000123412
|
|
|
SFD
|
[NCBI]
|
0.000122684
|
|
|
STHAG1
|
[NCBI]
|
0.00012135
|
|
|
CRS2
|
[NCBI]
|
0.00012135
|
|
|
DFNA4
|
[NCBI]
|
0.00012135
|
|
|
BDE
|
[NCBI]
|
0.00012135
|
|
|
DFNA1
|
[NCBI]
|
0.00012135
|
|
|
optic atrophy 1 and deafness
|
[NCBI]
|
0.00012135
|
|
|
DFNA20
|
[NCBI]
|
0.00012135
|
|
|
DFNA11
|
[NCBI]
|
0.00012135
|
|
|
RP17
|
[NCBI]
|
0.00012135
|
|
|
CMT1A
|
[NCBI]
|
0.000121094
|
|
|
ALD
|
[NCBI]
|
0.000120291
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.000119029
|
|
|
APC
|
[NCBI]
|
0.000117188
|
|
|
KLK3
|
[NCBI]
|
0.000117011
|
|
|
neutropenia, chronic familial
|
[NCBI]
|
0.000116535
|
|
|
achoo syndrome
|
[NCBI]
|
0.000116535
|
|
|
RCD1
|
[NCBI]
|
0.000116535
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
0.000116535
|
|
|
MYH9
|
[NCBI]
|
0.000116448
|
|
|
erythrocytosis, familial, 1
|
[NCBI]
|
0.000115651
|
|
|
WS2A
|
[NCBI]
|
0.000115651
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
0.000115651
|
|
|
MYOC
|
[NCBI]
|
0.000114847
|
|
|
ST3
|
[NCBI]
|
0.000114131
|
|
|
ENAM
|
[NCBI]
|
0.000113791
|
|
|
COCH
|
[NCBI]
|
0.000113791
|
|
|
MODY
|
[NCBI]
|
0.00011326
|
|
|
OPA1
|
[NCBI]
|
0.00011296
|
|
|
PSACH
|
[NCBI]
|
0.00011251
|
|
|
CRYBB2
|
[NCBI]
|
0.000111143
|
|
|
SCS
|
[NCBI]
|
0.000109679
|
|
|
pancreatic cancer, susceptibility to, 1
|
[NCBI]
|
0.0001096
|
|
|
pneumothorax, primary spontaneous
|
[NCBI]
|
0.0001096
|
|
|
CCA2
|
[NCBI]
|
0.0001096
|
|
|
AN1
|
[NCBI]
|
0.0001096
|
|
|
pancreas, annular
|
[NCBI]
|
0.0001096
|
|
|
PC1
|
[NCBI]
|
0.0001096
|
|
|
SPMM
|
[NCBI]
|
0.0001096
|
|
|
SPD1
|
[NCBI]
|
0.000109307
|
|
|
EKV
|
[NCBI]
|
0.00010899
|
|
|
EGF
|
[NCBI]
|
0.000106189
|
|
|
RP1
|
[NCBI]
|
0.000105916
|
|
|
myopathy, myofibrillar, desmin-related
|
[NCBI]
|
0.000104896
|
|
|
NPS
|
[NCBI]
|
0.000104463
|
|
|
TBS
|
[NCBI]
|
0.000104249
|
|
|
hypophosphatasia, adult type
|
[NCBI]
|
0.000103537
|
|
|
SCZD4
|
[NCBI]
|
0.000103537
|
|
|
UMS
|
[NCBI]
|
0.000103537
|
|
|
SLC4A1
|
[NCBI]
|
0.000102928
|
|
|
BRRS
|
[NCBI]
|
0.000101969
|
|
|
PDB
|
[NCBI]
|
0.000101022
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
0.000101022
|
|
|
pyle disease
|
[NCBI]
|
0.00010083
|
|
|
neuropathy, hereditary motor and sensory, okinawa type
|
[NCBI]
|
0.00010083
|
|
|
HSCR9
|
[NCBI]
|
0.00010083
|
|
|
diaphyseal medullary stenosis with malignant fibrous histiocytoma
|
[NCBI]
|
0.00010083
|
|
|
laterality defects, autosomal dominant
|
[NCBI]
|
0.00010083
|
|
|
auditory neuropathy, autosomal dominant, 1
|
[NCBI]
|
0.00010083
|
|
|
vitreoretinal degeneration, snowflake type
|
[NCBI]
|
0.00010083
|
|
|
melkersson-rosenthal syndrome
|
[NCBI]
|
0.00010083
|
|
|
macular dystrophy, butterfly-shaped pigmentary, 2
|
[NCBI]
|
0.00010083
|
|
|
candidiasis, familial chronic mucocutaneous, autosomal recessive
|
[NCBI]
|
0.00010083
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.00010083
|
|
|
megalencephaly
|
[NCBI]
|
0.00010083
|
|
|
astigmatism
|
[NCBI]
|
0.00010083
|
|
|
spondylometaphyseal dysplasia, kozlowski type
|
[NCBI]
|
0.00010083
|
|
|
mesomelic dysplasia, kantaputra type
|
[NCBI]
|
0.00010083
|
|
|
restless legs syndrome, susceptibility to, 3
|
[NCBI]
|
0.00010083
|
|
|
koilonychia, hereditary
|
[NCBI]
|
0.00010083
|
|
|
auditory neuropathy, x-linked, 1, with peripheral sensory neuropathy
|
[NCBI]
|
0.00010083
|
|
|
ophthalmoplegia, familial static
|
[NCBI]
|
0.00010083
|
|
|
ALS3
|
[NCBI]
|
0.00010083
|
|
|
indifference to pain, congenital, autosomal dominant
|
[NCBI]
|
0.00010083
|
|
|
PFHB2
|
[NCBI]
|
0.00010083
|
|
|
acanthosis nigricans
|
[NCBI]
|
0.00010083
|
|
|
SPG9
|
[NCBI]
|
0.00010083
|
|
|
migraine without aura, susceptibility to, 4
|
[NCBI]
|
0.00010083
|
|
|
CSE
|
[NCBI]
|
0.00010083
|
|
|
hyperimmunoglobulin e-recurrent infection syndrome, autosomal recessive
|
[NCBI]
|
0.00010083
|
|
|
myopia 6
|
[NCBI]
|
0.00010083
|
|
|
STUT1
|
[NCBI]
|
0.00010083
|
|
|
leukonychia totalis
|
[NCBI]
|
0.00010083
|
|
|
aortic aneurysm, familial thoracic 1
|
[NCBI]
|
0.00010083
|
|
|
osteogenesis imperfecta, type vi
|
[NCBI]
|
0.00010083
|
|
|
zinc, elevated plasma
|
[NCBI]
|
0.00010083
|
|
|
vacuolar neuromyopathy
|
[NCBI]
|
0.00010083
|
|
|
preauricular fistulae, congenital
|
[NCBI]
|
0.00010083
|
|
|
IP
|
[NCBI]
|
0.000100183
|
|
|
mast cell disease
|
[NCBI]
|
0.00010004
|
|
|
char syndrome
|
[NCBI]
|
0.00010004
|
|
|
EBS-MP
|
[NCBI]
|
0.00010004
|
|
|
VMCM
|
[NCBI]
|
0.00010004
|
|
|
short syndrome
|
[NCBI]
|
0.00010004
|
|
|
hyperferritinemia-cataract syndrome
|
[NCBI]
|
0.00010004
|
|
|
PARK4
|
[NCBI]
|
0.00010004
|
|
|
HNPP
|
[NCBI]
|
9.95453e-05
|
|
|
CEACAM5
|
[NCBI]
|
9.93798e-05
|
|
|
EBP
|
[NCBI]
|
9.85247e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
9.82539e-05
|
|
|
SCA11
|
[NCBI]
|
9.74831e-05
|
|
|
keratitis, hereditary
|
[NCBI]
|
9.74831e-05
|
|
|
epilepsy, nocturnal frontal lobe, type 3
|
[NCBI]
|
9.74831e-05
|
|
|
CSNBAD2
|
[NCBI]
|
9.74831e-05
|
|
|
say syndrome
|
[NCBI]
|
9.74831e-05
|
|
|
craniofacial dysostosis with diaphyseal hyperplasia
|
[NCBI]
|
9.74831e-05
|
|
|
DFNA36
|
[NCBI]
|
9.74831e-05
|
|
|
muscular dystrophy, hemizygous lethal type
|
[NCBI]
|
9.74831e-05
|
|
|
stapes ankylosis with broad thumb and toes
|
[NCBI]
|
9.74831e-05
|
|
|
cochleosaccular degeneration of the inner ear with progressive cataracts
|
[NCBI]
|
9.74831e-05
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
9.74831e-05
|
|
|
CVT
|
[NCBI]
|
9.74831e-05
|
|
|
scalp defects and postaxial polydactyly
|
[NCBI]
|
9.74831e-05
|
|
|
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
|
[NCBI]
|
9.74831e-05
|
|
|
CRH
|
[NCBI]
|
9.71559e-05
|
|
|
DURS1
|
[NCBI]
|
9.70429e-05
|
|
|
ACHE
|
[NCBI]
|
9.62873e-05
|
|
|
VIP
|
[NCBI]
|
9.50992e-05
|
|
|
periodontitis, aggressive, 1
|
[NCBI]
|
9.33896e-05
|
|
|
SYM1
|
[NCBI]
|
9.20027e-05
|
|
|
polydactyly, postaxial, type a1
|
[NCBI]
|
9.20027e-05
|
|
|
ATXN8OS
|
[NCBI]
|
9.07238e-05
|
|
|
MTS
|
[NCBI]
|
9.02515e-05
|
|
|
EA2
|
[NCBI]
|
8.88889e-05
|
|
|
weaver syndrome
|
[NCBI]
|
8.88889e-05
|
|
|
CCK
|
[NCBI]
|
8.8725e-05
|
|
|
KRT14
|
[NCBI]
|
8.80495e-05
|
|
|
chiari malformation type i
|
[NCBI]
|
8.78936e-05
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
8.78936e-05
|
|
|
PSEN1
|
[NCBI]
|
8.76884e-05
|
|
|
hypertension with brachydactyly
|
[NCBI]
|
8.7526e-05
|
|
|
CDB2
|
[NCBI]
|
8.7526e-05
|
|
|
LMNA
|
[NCBI]
|
8.6409e-05
|
|
|
AS
|
[NCBI]
|
8.56538e-05
|
|
|
JWS
|
[NCBI]
|
8.50897e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
8.50897e-05
|
|
|
SPG17
|
[NCBI]
|
8.50897e-05
|
|
|
FMD
|
[NCBI]
|
8.50897e-05
|
|
|
FSCN2
|
[NCBI]
|
8.47259e-05
|
|
|
osteogenesis imperfecta, type iv
|
[NCBI]
|
8.47068e-05
|
|
|
pancreatic carcinoma
|
[NCBI]
|
8.47068e-05
|
|
|
SLC40A1
|
[NCBI]
|
8.44024e-05
|
|
|
STL1
|
[NCBI]
|
8.43525e-05
|
|
|
HHC1
|
[NCBI]
|
8.43525e-05
|
|
|
CRYBA1
|
[NCBI]
|
8.42224e-05
|
|
|
GJA3
|
[NCBI]
|
8.23899e-05
|
|
|
SOX10
|
[NCBI]
|
8.21767e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
8.14651e-05
|
|
|
BL
|
[NCBI]
|
8.1078e-05
|
|
|
SPG8
|
[NCBI]
|
8.0893e-05
|
|
|
retinitis pigmentosa-deafness syndrome
|
[NCBI]
|
8.0893e-05
|
|
|
SCA15
|
[NCBI]
|
8.0893e-05
|
|
|
cataract, autosomal dominant, multiple types 1
|
[NCBI]
|
8.0893e-05
|
|
|
sick sinus syndrome, autosomal dominant
|
[NCBI]
|
8.0893e-05
|
|
|
platelet disorder, familial, with associated myeloid malignancy
|
[NCBI]
|
8.0893e-05
|
|
|
trigonocephaly, nonsyndromic
|
[NCBI]
|
8.0893e-05
|
|
|
OPTA1
|
[NCBI]
|
8.0893e-05
|
|
|
HHF3
|
[NCBI]
|
8.0893e-05
|
|
|
clubfoot
|
[NCBI]
|
8.0893e-05
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
8.0893e-05
|
|
|
familial mediterranean fever, autosomal dominant
|
[NCBI]
|
8.0893e-05
|
|
|
complement component 4, partial deficiency of
|
[NCBI]
|
8.0893e-05
|
|
|
DA2A
|
[NCBI]
|
8.08064e-05
|
|
|
PARK8
|
[NCBI]
|
8.08064e-05
|
|
|
HEPOD
|
[NCBI]
|
8.08064e-05
|
|
|
SGCE
|
[NCBI]
|
8.06694e-05
|
|
|
PRKCG
|
[NCBI]
|
8.06694e-05
|
|
|
GUCY2D
|
[NCBI]
|
8.06694e-05
|
|
|
DGI1
|
[NCBI]
|
7.90418e-05
|
|
|
IRID1
|
[NCBI]
|
7.90418e-05
|
|
|
PFHB1A
|
[NCBI]
|
7.90418e-05
|
|
|
BDA1
|
[NCBI]
|
7.90418e-05
|
|
|
BDB1
|
[NCBI]
|
7.90418e-05
|
|
|
GINGF
|
[NCBI]
|
7.90418e-05
|
|
|
DRRS
|
[NCBI]
|
7.90418e-05
|
|
|
hashimoto thyroiditis
|
[NCBI]
|
7.82377e-05
|
|
|
GIST
|
[NCBI]
|
7.80717e-05
|
|
|
CVID
|
[NCBI]
|
7.79236e-05
|
|
|
IMPDH1
|
[NCBI]
|
7.77616e-05
|
|
|
CCAL2
|
[NCBI]
|
7.71568e-05
|
|
|
pfeiffer syndrome
|
[NCBI]
|
7.71568e-05
|
|
|
TRPS1
|
[NCBI]
|
7.71568e-05
|
|
|
HSAN1
|
[NCBI]
|
7.71568e-05
|
|
|
osteogenesis imperfecta, type iii
|
[NCBI]
|
7.71568e-05
|
|
|
AHO
|
[NCBI]
|
7.70888e-05
|
|
|
OFC1
|
[NCBI]
|
7.69329e-05
|
|
|
ELN
|
[NCBI]
|
7.4839e-05
|
|
|
nail dysplasia, isolated congenital
|
[NCBI]
|
7.48146e-05
|
|
|
GJB3
|
[NCBI]
|
7.46821e-05
|
|
|
AFP
|
[NCBI]
|
7.4556e-05
|
|
|
protoporphyria, erythropoietic
|
[NCBI]
|
7.45336e-05
|
|
|
leiomyoma, hereditary multiple, of skin
|
[NCBI]
|
7.3681e-05
|
|
|
CYLD
|
[NCBI]
|
7.3681e-05
|
|
|
RHS
|
[NCBI]
|
7.3681e-05
|
|
|
DFNA6
|
[NCBI]
|
7.3681e-05
|
|
|
amyloidosis, primary cutaneous
|
[NCBI]
|
7.3681e-05
|
|
|
DA2B
|
[NCBI]
|
7.3681e-05
|
|
|
CRYAA
|
[NCBI]
|
7.33666e-05
|
|
|
PAX3
|
[NCBI]
|
7.18927e-05
|
|
|
MEN2A
|
[NCBI]
|
7.16632e-05
|
|
|
FCAS
|
[NCBI]
|
7.10796e-05
|
|
|
PCTT
|
[NCBI]
|
7.10796e-05
|
|
|
CRYAB
|
[NCBI]
|
6.97577e-05
|
|
|
robinow-sorauf syndrome
|
[NCBI]
|
6.97239e-05
|
|
|
NEM1
|
[NCBI]
|
6.97239e-05
|
|
|
lymphedema, hereditary, ii
|
[NCBI]
|
6.97239e-05
|
|
|
witkop syndrome
|
[NCBI]
|
6.97239e-05
|
|
|
epidermolysis bullosa of hands and feet
|
[NCBI]
|
6.97239e-05
|
|
|
PGL3
|
[NCBI]
|
6.97239e-05
|
|
|
myopathy, centronuclear, autosomal recessive
|
[NCBI]
|
6.97239e-05
|
|
|
beta thalassemia, dominant inclusion body type
|
[NCBI]
|
6.97239e-05
|
|
|
CTPP3
|
[NCBI]
|
6.97239e-05
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
6.97239e-05
|
|
|
dentinogenesis imperfecta, shields type iii
|
[NCBI]
|
6.97239e-05
|
|
|
seizures, benign familial neonatal-infantile
|
[NCBI]
|
6.97239e-05
|
|
|
macrocephaly, benign familial
|
[NCBI]
|
6.97239e-05
|
|
|
CMD1D
|
[NCBI]
|
6.97239e-05
|
|
|
epidermolysis bullosa pruriginosa
|
[NCBI]
|
6.97239e-05
|
|
|
FFS
|
[NCBI]
|
6.97239e-05
|
|
|
ramon syndrome
|
[NCBI]
|
6.97239e-05
|
|
|
dentin dysplasia, type ii
|
[NCBI]
|
6.97239e-05
|
|
|
hawkinsinuria
|
[NCBI]
|
6.97239e-05
|
|
|
TRPS3
|
[NCBI]
|
6.97239e-05
|
|
|
cyclic hematopoiesis
|
[NCBI]
|
6.88794e-05
|
|
|
CDGG1
|
[NCBI]
|
6.88794e-05
|
|
|
EDM1
|
[NCBI]
|
6.88794e-05
|
|
|
monilethrix
|
[NCBI]
|
6.88794e-05
|
|
|
CMT2A1
|
[NCBI]
|
6.88794e-05
|
|
|
autoimmune disease
|
[NCBI]
|
6.88794e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
6.88794e-05
|
|
|
papillorenal syndrome
|
[NCBI]
|
6.88794e-05
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
6.88794e-05
|
|
|
GJA8
|
[NCBI]
|
6.86526e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
6.86526e-05
|
|
|
GJB2
|
[NCBI]
|
6.79964e-05
|
|
|
navicular bone, accessory
|
[NCBI]
|
6.75158e-05
|
|
|
bifid nose
|
[NCBI]
|
6.75158e-05
|
|
|
distichiasis with congenital anomalies of the heart and peripheral vasculature
|
[NCBI]
|
6.75158e-05
|
|
|
pilonidal sinus
|
[NCBI]
|
6.75158e-05
|
|
|
WS2E
|
[NCBI]
|
6.75158e-05
|
|
|
piebald trait with neurologic defects
|
[NCBI]
|
6.75158e-05
|
|
|
polycystic bone disease
|
[NCBI]
|
6.75158e-05
|
|
|
brachydactyly, mononen type
|
[NCBI]
|
6.75158e-05
|
|
|
tooth malformation
|
[NCBI]
|
6.75158e-05
|
|
|
glycoprotein storage disease
|
[NCBI]
|
6.75158e-05
|
|
|
nipples inverted
|
[NCBI]
|
6.75158e-05
|
|
|
BOE
|
[NCBI]
|
6.75158e-05
|
|
|
cleft soft palate
|
[NCBI]
|
6.75158e-05
|
|
|
spondylolisthesis
|
[NCBI]
|
6.75158e-05
|
|
|
angioma, tufted
|
[NCBI]
|
6.75158e-05
|
|
|
cephalocele, atretic
|
[NCBI]
|
6.75158e-05
|
|
|
dental noneruption
|
[NCBI]
|
6.75158e-05
|
|
|
infundibulopelvic dysgenesis
|
[NCBI]
|
6.75158e-05
|
|
|
brachytelephalangy with characteristic facies and kallmann syndrome
|
[NCBI]
|
6.75158e-05
|
|
|
tibia vara
|
[NCBI]
|
6.75158e-05
|
|
|
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
|
[NCBI]
|
6.75158e-05
|
|
|
pronation-supination of the forearm, impairment of
|
[NCBI]
|
6.75158e-05
|
|
|
heart-hand syndrome, spanish type
|
[NCBI]
|
6.75158e-05
|
|
|
barber-say syndrome
|
[NCBI]
|
6.75158e-05
|
|
|
cranioacrofacial syndrome
|
[NCBI]
|
6.75158e-05
|
|
|
craniosynostosis, philadelphia type
|
[NCBI]
|
6.75158e-05
|
|
|
radiation sensitivity/chromosome instability syndrome, autosomal dominant
|
[NCBI]
|
6.75158e-05
|
|
|
seborrhea-like dermatitis with psoriasiform elements
|
[NCBI]
|
6.75158e-05
|
|
|
radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema
|
[NCBI]
|
6.75158e-05
|
|
|
steinfeld syndrome
|
[NCBI]
|
6.75158e-05
|
|
|
brachydactyly, long-thumb type
|
[NCBI]
|
6.75158e-05
|
|
|
gms syndrome
|
[NCBI]
|
6.75158e-05
|
|
|
retinitis pigmentosa 37
|
[NCBI]
|
6.75158e-05
|
|
|
ichthyosis--cheek--eyebrow syndrome
|
[NCBI]
|
6.75158e-05
|
|
|
thumb deformity and alopecia
|
[NCBI]
|
6.75158e-05
|
|
|
keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy
|
[NCBI]
|
6.75158e-05
|
|
|
distal osteosclerosis
|
[NCBI]
|
6.75158e-05
|
|
|
scalp-ear-nipple syndrome
|
[NCBI]
|
6.75158e-05
|
|
|
insensitivity to pain with hyperplastic myelinopathy
|
[NCBI]
|
6.75158e-05
|
|
|
hydrocephalus, skeletal anomalies, and mental disturbance
|
[NCBI]
|
6.75158e-05
|
|
|
male infertility from defect in meiosis
|
[NCBI]
|
6.75158e-05
|
|
|
tented eyebrows
|
[NCBI]
|
6.75158e-05
|
|
|
proteolytic capacity of plasma
|
[NCBI]
|
6.75158e-05
|
|
|
spondyloepimetaphyseal dysplasia with hypotrichosis
|
[NCBI]
|
6.75158e-05
|
|
|
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures
|
[NCBI]
|
6.75158e-05
|
|
|
TLPD
|
[NCBI]
|
6.75158e-05
|
|
|
thoracic dysostosis, isolated
|
[NCBI]
|
6.75158e-05
|
|
|
cervical rib
|
[NCBI]
|
6.75158e-05
|
|
|
atrial septal defect, secundum, with various cardiac and noncardiac defects
|
[NCBI]
|
6.75158e-05
|
|
|
glutathione transferase activity toward trans-stilbene oxide
|
[NCBI]
|
6.75158e-05
|
|
|
deafness-craniofacial syndrome
|
[NCBI]
|
6.75158e-05
|
|
|
incisors, shovel-shaped
|
[NCBI]
|
6.75158e-05
|
|
|
laryngomalacia
|
[NCBI]
|
6.75158e-05
|
|
|
hypotrichosis-lymphedema-telangiectasia syndrome
|
[NCBI]
|
6.75158e-05
|
|
|
dermatoglyphics--arch on any digit
|
[NCBI]
|
6.75158e-05
|
|
|
grant syndrome
|
[NCBI]
|
6.75158e-05
|
|
|
nasal alar collapse, bilateral
|
[NCBI]
|
6.75158e-05
|
|
|
momo syndrome
|
[NCBI]
|
6.75158e-05
|
|
|
gastrocutaneous syndrome
|
[NCBI]
|
6.75158e-05
|
|
|
ectodermal dysplasia with adrenal cyst
|
[NCBI]
|
6.75158e-05
|
|
|
osteoarthritis of distal interphalangeal joints
|
[NCBI]
|
6.75158e-05
|
|
|
craniodiaphyseal dysplasia, dominant
|
[NCBI]
|
6.75158e-05
|
|