|
OMIM |
Link |
Information gain |
01 |
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.00650032
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.00127542
|
|
|
myopathy with deficiency of succinate dehydrogenase and aconitase
|
[NCBI]
|
0.00127542
|
|
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
0.00120731
|
|
|
pigmented purpuric eruption
|
[NCBI]
|
0.00110106
|
|
|
SPAX1
|
[NCBI]
|
0.00110106
|
|
|
mesomelic dwarfism of hypoplastic tibia and radius type
|
[NCBI]
|
0.00110106
|
|
|
leg, absence deformity of, with congenital cataract
|
[NCBI]
|
0.00110106
|
|
|
WDM
|
[NCBI]
|
0.00109717
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000849683
|
|
|
MPD3
|
[NCBI]
|
0.000791708
|
|
|
muscle cramps, familial
|
[NCBI]
|
0.000791708
|
|
|
PRS
|
[NCBI]
|
0.000791708
|
|
|
myopathy, hyaline body, autosomal recessive
|
[NCBI]
|
0.000675971
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.000632505
|
|
|
keratolytic winter erythema
|
[NCBI]
|
0.000601389
|
|
|
spinal muscular atrophy, distal, congenital nonprogressive
|
[NCBI]
|
0.000601389
|
|
|
poland syndrome
|
[NCBI]
|
0.000590067
|
|
|
amyotrophy, neurogenic scapuloperoneal, new england type
|
[NCBI]
|
0.000546353
|
|
|
cholestasis-lymphedema syndrome
|
[NCBI]
|
0.000546353
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.000546353
|
|
|
IH
|
[NCBI]
|
0.000502829
|
|
|
femur, unilateral bifid, with monodactylous ectrodactyly
|
[NCBI]
|
0.000502829
|
|
|
acheiropody
|
[NCBI]
|
0.000427149
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
0.000427149
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.000409934
|
|
|
amyotrophy, monomelic
|
[NCBI]
|
0.000386605
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.000365782
|
|
|
IS1
|
[NCBI]
|
0.000360533
|
|
|
disorganization, mouse, homolog of
|
[NCBI]
|
0.000323385
|
|
|
scapuloperoneal syndrome, neurogenic, kaeser type
|
[NCBI]
|
0.000311136
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.000299928
|
|
|
varicose veins
|
[NCBI]
|
0.000261058
|
|
|
ASPS
|
[NCBI]
|
0.000244637
|
|
|
VEGF
|
[NCBI]
|
0.000225887
|
|
|
lymphedema, hereditary, ii
|
[NCBI]
|
0.000207282
|
|
|
tibial hemimelia
|
[NCBI]
|
0.000207282
|
|
|
aglossia-adactylia
|
[NCBI]
|
0.000207282
|
|
|
bowing of legs, anterior, with dwarfism
|
[NCBI]
|
0.000207282
|
|
|
AIC
|
[NCBI]
|
0.000198737
|
|
|
osseous heteroplasia, progressive
|
[NCBI]
|
0.000188245
|
|
|
CF
|
[NCBI]
|
0.000181569
|
|
|
HMN2A
|
[NCBI]
|
0.000180741
|
|
|
campomelic dysplasia
|
[NCBI]
|
0.000177033
|
|
|
chondrodysplasia calcificans metaphysealis
|
[NCBI]
|
0.000157454
|
|
|
grant syndrome
|
[NCBI]
|
0.000157454
|
|
|
BDA6
|
[NCBI]
|
0.000157454
|
|
|
ulna and fibula, hypoplasia of
|
[NCBI]
|
0.000157454
|
|
|
futcher line
|
[NCBI]
|
0.000157454
|
|
|
spondyloepiphyseal dysplasia tarda with characteristic facies
|
[NCBI]
|
0.000157454
|
|
|
cancer, familial, with in vitro radioresistance
|
[NCBI]
|
0.000157454
|
|
|
peroneus tertius muscle, absence of
|
[NCBI]
|
0.000157454
|
|
|
veins, pattern of, on anterior thorax
|
[NCBI]
|
0.000157454
|
|
|
radius, aplasia of, with cleft lip/palate
|
[NCBI]
|
0.000157454
|
|
|
bowing of long bones, asymmetric and symmetric
|
[NCBI]
|
0.000157454
|
|
|
ataxia with myoclonic epilepsy and presenile dementia
|
[NCBI]
|
0.000157454
|
|
|
preaxial hallucal polydactyly
|
[NCBI]
|
0.000157454
|
|
|
ectrodactyly of lower limbs, congenital heart defect, and micrognathia
|
[NCBI]
|
0.000157454
|
|
|
angiokeratoma corporis diffusum with arteriovenous fistulas
|
[NCBI]
|
0.000157454
|
|
|
EDMD2
|
[NCBI]
|
0.000149583
|
|
|
tibial muscular dystrophy, tardive
|
[NCBI]
|
0.000149583
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
0.000142222
|
|
|
SPG3A
|
[NCBI]
|
0.000138892
|
|
|
PPS
|
[NCBI]
|
0.00013
|
|
|
EKD1
|
[NCBI]
|
0.000120485
|
|
|
ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia
|
[NCBI]
|
0.000118286
|
|
|
spondylometaepiphyseal dysplasia, short limb-hand type
|
[NCBI]
|
0.000118286
|
|
|
spastic ataxia
|
[NCBI]
|
0.000118286
|
|
|
tibia, absence of, with polydactyly
|
[NCBI]
|
0.000118286
|
|
|
spondylometaphyseal dysplasia, algerian type
|
[NCBI]
|
0.000118286
|
|
|
renal dysplasia-limb defects syndrome
|
[NCBI]
|
0.000118286
|
|
|
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
|
[NCBI]
|
0.000118286
|
|
|
MM
|
[NCBI]
|
0.000115776
|
|
|
CMTC
|
[NCBI]
|
0.000113745
|
|
|
LWD
|
[NCBI]
|
0.000108098
|
|
|
ankylosing vertebral hyperostosis with tylosis
|
[NCBI]
|
0.00010357
|
|
|
hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy
|
[NCBI]
|
0.00010357
|
|
|
angioma serpiginosum, autosomal dominant
|
[NCBI]
|
0.00010357
|
|
|
epidermolysis bullosa pruriginosa
|
[NCBI]
|
0.00010357
|
|
|
ectrodactyly
|
[NCBI]
|
0.00010357
|
|
|
LGMD2K
|
[NCBI]
|
0.00010357
|
|
|
BDD
|
[NCBI]
|
0.00010357
|
|
|
brachial amelia, forebrain defects, and facial clefts
|
[NCBI]
|
0.00010357
|
|
|
LSA
|
[NCBI]
|
0.000103022
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
9.42062e-05
|
|
|
adie pupil
|
[NCBI]
|
9.4052e-05
|
|
|
epidermolysis bullosa, pretibial
|
[NCBI]
|
9.4052e-05
|
|
|
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
|
[NCBI]
|
9.4052e-05
|
|
|
RA
|
[NCBI]
|
9.05656e-05
|
|
|
temporal arteritis
|
[NCBI]
|
8.79402e-05
|
|
|
dystonia, familial, with visual failure and striatal lucencies
|
[NCBI]
|
8.70024e-05
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
8.70024e-05
|
|
|
d-2-@hydroxyglutaric aciduria
|
[NCBI]
|
8.70024e-05
|
|
|
schneckenbecken dysplasia
|
[NCBI]
|
8.70024e-05
|
|
|
EDMD
|
[NCBI]
|
8.56118e-05
|
|
|
charcot-marie-tooth disease, axonal, type 2j
|
[NCBI]
|
8.14068e-05
|
|
|
SPS
|
[NCBI]
|
8.14068e-05
|
|
|
DSAP1
|
[NCBI]
|
8.14068e-05
|
|
|
BDE
|
[NCBI]
|
8.14068e-05
|
|
|
langer mesomelic dysplasia
|
[NCBI]
|
8.14068e-05
|
|
|
femur-fibula-ulna syndrome
|
[NCBI]
|
8.14068e-05
|
|
|
OSMED
|
[NCBI]
|
8.14068e-05
|
|
|
ALS4
|
[NCBI]
|
8.14068e-05
|
|
|
TD1
|
[NCBI]
|
8.03081e-05
|
|
|
metaphyseal chondrodysplasia, jansen type
|
[NCBI]
|
7.67719e-05
|
|
|
SPMM
|
[NCBI]
|
7.67719e-05
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
7.67719e-05
|
|
|
marshall-smith syndrome
|
[NCBI]
|
7.67719e-05
|
|
|
MB
|
[NCBI]
|
7.41493e-05
|
|
|
GDD
|
[NCBI]
|
7.28198e-05
|
|
|
SPG17
|
[NCBI]
|
7.28198e-05
|
|
|
KCS
|
[NCBI]
|
7.28198e-05
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
7.28198e-05
|
|
|
hemangioma-thrombocytopenia syndrome
|
[NCBI]
|
6.93782e-05
|
|
|
AOI
|
[NCBI]
|
6.93782e-05
|
|
|
lymphedema, hereditary, i
|
[NCBI]
|
6.93782e-05
|
|
|
AMDM
|
[NCBI]
|
6.93782e-05
|
|
|
HFM
|
[NCBI]
|
6.90391e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
6.63329e-05
|
|
|
POMT1
|
[NCBI]
|
6.58929e-05
|
|
|
myotonia congenita, autosomal dominant
|
[NCBI]
|
6.36042e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
6.36042e-05
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
6.36042e-05
|
|
|
DDD
|
[NCBI]
|
6.11342e-05
|
|
|
paget disease, juvenile
|
[NCBI]
|
6.11342e-05
|
|
|
VED
|
[NCBI]
|
5.68075e-05
|
|
|
FMF
|
[NCBI]
|
5.47773e-05
|
|
|
aortic aneurysm, abdominal
|
[NCBI]
|
5.14477e-05
|
|
|
IBM2
|
[NCBI]
|
5.14477e-05
|
|
|
CGL2
|
[NCBI]
|
5.14477e-05
|
|
|
amyloidosis, primary cutaneous
|
[NCBI]
|
4.98894e-05
|
|
|
UMS
|
[NCBI]
|
4.70413e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
4.57334e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
4.4493e-05
|
|
|
MKKS
|
[NCBI]
|
4.4493e-05
|
|
|
LGMD2A
|
[NCBI]
|
4.4493e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
4.4493e-05
|
|
|
SMAX1
|
[NCBI]
|
4.44136e-05
|
|
|
EBR1
|
[NCBI]
|
4.33141e-05
|
|
|
UCP3
|
[NCBI]
|
4.15716e-05
|
|
|
RBS
|
[NCBI]
|
4.00953e-05
|
|
|
COH1
|
[NCBI]
|
4.00953e-05
|
|
|
SLE
|
[NCBI]
|
3.95707e-05
|
|
|
RSMD1
|
[NCBI]
|
3.91147e-05
|
|
|
TTR
|
[NCBI]
|
3.81436e-05
|
|
|
TMEM16E
|
[NCBI]
|
3.79103e-05
|
|
|
FDH
|
[NCBI]
|
3.72716e-05
|
|
|
DMD
|
[NCBI]
|
3.55612e-05
|
|
|
RCDP1
|
[NCBI]
|
3.47637e-05
|
|
|
DACH1
|
[NCBI]
|
3.46484e-05
|
|
|
LPL
|
[NCBI]
|
3.39179e-05
|
|
|
NSDHL
|
[NCBI]
|
3.34464e-05
|
|
|
PXE
|
[NCBI]
|
3.27771e-05
|
|
|
LI1
|
[NCBI]
|
3.25141e-05
|
|
|
SACS
|
[NCBI]
|
3.2418e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
3.18138e-05
|
|
|
MG
|
[NCBI]
|
3.10381e-05
|
|
|
PAPSS2
|
[NCBI]
|
3.00039e-05
|
|
|
GARS
|
[NCBI]
|
3.00039e-05
|
|
|
NF1
|
[NCBI]
|
2.98172e-05
|
|
|
ADSL
|
[NCBI]
|
2.93522e-05
|
|
|
SALL4
|
[NCBI]
|
2.93522e-05
|
|
|
TRPS2
|
[NCBI]
|
2.9226e-05
|
|
|
CMT1B
|
[NCBI]
|
2.9226e-05
|
|
|
AMC
|
[NCBI]
|
2.8627e-05
|
|
|
FLT4
|
[NCBI]
|
2.76938e-05
|
|
|
CP
|
[NCBI]
|
2.75726e-05
|
|
|
VWS
|
[NCBI]
|
2.74799e-05
|
|
|
HOXD13
|
[NCBI]
|
2.72172e-05
|
|
|
EBP
|
[NCBI]
|
2.63508e-05
|
|
|
NEB
|
[NCBI]
|
2.59544e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
2.55791e-05
|
|
|
SPG4
|
[NCBI]
|
2.55791e-05
|
|
|
FKRP
|
[NCBI]
|
2.48837e-05
|
|
|
MKS1
|
[NCBI]
|
2.48753e-05
|
|
|
TGM1
|
[NCBI]
|
2.36704e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
2.34682e-05
|
|
|
TTN
|
[NCBI]
|
2.31344e-05
|
|
|
HMI
|
[NCBI]
|
2.26366e-05
|
|
|
AHO
|
[NCBI]
|
2.25865e-05
|
|
|
MTM1
|
[NCBI]
|
2.21613e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
2.13402e-05
|
|
|
PHEX
|
[NCBI]
|
2.11305e-05
|
|
|
DES
|
[NCBI]
|
2.09397e-05
|
|
|
CMT1A
|
[NCBI]
|
1.98059e-05
|
|
|
EV
|
[NCBI]
|
1.94431e-05
|
|
|
PCI
|
[NCBI]
|
1.84433e-05
|
|
|
GNAS
|
[NCBI]
|
1.84433e-05
|
|
|
MUC1
|
[NCBI]
|
1.78205e-05
|
|
|
FRDA
|
[NCBI]
|
1.77403e-05
|
|
|
MPZ
|
[NCBI]
|
1.71398e-05
|
|
|
ACH
|
[NCBI]
|
1.71069e-05
|
|
|
FRAP1
|
[NCBI]
|
1.42164e-05
|
|
|
FGFR2
|
[NCBI]
|
1.41551e-05
|
|
|
AS
|
[NCBI]
|
1.24025e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
1.21591e-05
|
|
|
TNF
|
[NCBI]
|
1.14288e-05
|
|
|
PTH
|
[NCBI]
|
1.08314e-05
|
|
|
LCAT
|
[NCBI]
|
9.97171e-06
|
|
|
DFSP
|
[NCBI]
|
8.45539e-06
|
|
|
NGFB
|
[NCBI]
|
7.9059e-06
|
|
|
DRPLA
|
[NCBI]
|
7.00772e-06
|
|
|
HGF
|
[NCBI]
|
6.60255e-06
|
|
|
EPO
|
[NCBI]
|
6.24366e-06
|
|
|
PF4
|
[NCBI]
|
6.02201e-06
|
|
|
PD
|
[NCBI]
|
5.86986e-06
|
|
|
SHBG
|
[NCBI]
|
4.6088e-06
|
|
|
FA
|
[NCBI]
|
4.47145e-06
|
|
|
PRL
|
[NCBI]
|
3.52561e-06
|
|
|
ACP5
|
[NCBI]
|
3.22516e-06
|
|
|
CEACAM5
|
[NCBI]
|
2.59698e-06
|
|
|
CNTF
|
[NCBI]
|
2.21202e-06
|
|
|
POMC
|
[NCBI]
|
2.10457e-06
|
|
|
ACHE
|
[NCBI]
|
1.98647e-06
|
|
|
CD
|
[NCBI]
|
1.63592e-06
|
|
|
AVP
|
[NCBI]
|
1.29673e-06
|
|
|
VIP
|
[NCBI]
|
1.25325e-06
|
|
|
EGFR
|
[NCBI]
|
8.64422e-07
|
|
|
APOE
|
[NCBI]
|
5.52033e-07
|
|
|
ALD
|
[NCBI]
|
5.39818e-07
|
|
|
F3
|
[NCBI]
|
3.94215e-07
|
|
|
NPY
|
[NCBI]
|
2.18713e-07
|
|
|
WAS
|
[NCBI]
|
1.73936e-07
|
|
|
NPPA
|
[NCBI]
|
1.29989e-07
|
|
|
KLK3
|
[NCBI]
|
1.041e-07
|
|
|
TS
|
[NCBI]
|
8.56236e-08
|
|