|
OMIM |
Link |
Information gain |
01 |
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
0.00535965
|
|
|
GO
|
[NCBI]
|
0.00411831
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
0.00202121
|
|
|
MCOPS7
|
[NCBI]
|
0.00192113
|
|
|
costello syndrome
|
[NCBI]
|
0.00167053
|
|
|
aplasia cutis congenita of limbs, recessive
|
[NCBI]
|
0.00165846
|
|
|
kabuki syndrome
|
[NCBI]
|
0.00158899
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.00129267
|
|
|
cranioectodermal dysplasia
|
[NCBI]
|
0.000955899
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
0.000692864
|
|
|
SCAR5
|
[NCBI]
|
0.000610413
|
|
|
fingerprints, absence of
|
[NCBI]
|
0.000610413
|
|
|
NLS
|
[NCBI]
|
0.000568872
|
|
|
mucoepithelial dysplasia, hereditary
|
[NCBI]
|
0.000528953
|
|
|
ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease
|
[NCBI]
|
0.000528953
|
|
|
acromial dimples
|
[NCBI]
|
0.000476336
|
|
|
focal facial dermal dysplasia
|
[NCBI]
|
0.000476336
|
|
|
rosselli-gulienetti syndrome
|
[NCBI]
|
0.000476336
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
0.000433235
|
|
|
AOS
|
[NCBI]
|
0.000432925
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
0.000406568
|
|
|
proteus syndrome
|
[NCBI]
|
0.000393732
|
|
|
sclerotylosis
|
[NCBI]
|
0.000381049
|
|
|
epidermolysis bullosa with pyloric atresia
|
[NCBI]
|
0.000380606
|
|
|
WSS
|
[NCBI]
|
0.000377699
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.000359319
|
|
|
gapo syndrome
|
[NCBI]
|
0.000359319
|
|
|
aplasia cutis congenita with epibulbar dermoids
|
[NCBI]
|
0.000345644
|
|
|
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
|
[NCBI]
|
0.000330091
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000323725
|
|
|
megalencephaly-cutis marmorata telangiectatica congenita
|
[NCBI]
|
0.00029082
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
0.000271674
|
|
|
cutis gyrata syndrome of beare and stevenson
|
[NCBI]
|
0.000250984
|
|
|
ACC
|
[NCBI]
|
0.000242538
|
|
|
PPS
|
[NCBI]
|
0.000229939
|
|
|
HCCS
|
[NCBI]
|
0.000220278
|
|
|
JBTS1
|
[NCBI]
|
0.000176126
|
|
|
barber-say syndrome
|
[NCBI]
|
0.000149093
|
|
|
cerebellotrigeminal dermal dysplasia
|
[NCBI]
|
0.000141763
|
|
|
cleft, median, of upper lip with polyps of facial skin and nasal mucosa
|
[NCBI]
|
0.000141763
|
|
|
EEC1
|
[NCBI]
|
0.000141125
|
|
|
NS1
|
[NCBI]
|
0.000139396
|
|
|
FDH
|
[NCBI]
|
0.000128067
|
|
|
CMTC
|
[NCBI]
|
0.000126991
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000123898
|
|
|
ST14
|
[NCBI]
|
0.000119906
|
|
|
CHUK
|
[NCBI]
|
0.000114151
|
|
|
APAF1
|
[NCBI]
|
0.000111801
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
0.00011084
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
0.000106253
|
|
|
ectodermal dysplasia with natal teeth, turnpenny type
|
[NCBI]
|
0.000101728
|
|
|
dermatoleukodystrophy
|
[NCBI]
|
0.000101728
|
|
|
ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
|
[NCBI]
|
0.000101728
|
|
|
incisors, lower central, absence of
|
[NCBI]
|
0.000101728
|
|
|
acrocephalopolysyndactyly type iii
|
[NCBI]
|
0.000101728
|
|
|
mental retardation, obesity, mandibular prognathism, and eye and skin anomalies
|
[NCBI]
|
0.000101728
|
|
|
brachymetapody-anodontia-hypotrichosis-albinoidism
|
[NCBI]
|
0.000101728
|
|
|
IRF6
|
[NCBI]
|
0.000100354
|
|
|
JBS
|
[NCBI]
|
9.26231e-05
|
|
|
BRAF
|
[NCBI]
|
8.32097e-05
|
|
|
hairy palms and soles
|
[NCBI]
|
8.06454e-05
|
|
|
COL7A1
|
[NCBI]
|
8.03117e-05
|
|
|
dermoodontodysplasia
|
[NCBI]
|
7.92853e-05
|
|
|
aplasia cutis congenita, high myopia, and cone-rod dysfunction
|
[NCBI]
|
7.92853e-05
|
|
|
noonan syndrome 3
|
[NCBI]
|
7.92853e-05
|
|
|
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
|
[NCBI]
|
7.92853e-05
|
|
|
ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
|
[NCBI]
|
7.92853e-05
|
|
|
CDPX2
|
[NCBI]
|
7.84851e-05
|
|
|
KRAS
|
[NCBI]
|
7.41906e-05
|
|
|
alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism
|
[NCBI]
|
7.08336e-05
|
|
|
ACP2
|
[NCBI]
|
6.68676e-05
|
|
|
MAP2K2
|
[NCBI]
|
6.68676e-05
|
|
|
ORAOV1
|
[NCBI]
|
6.68676e-05
|
|
|
LOCS
|
[NCBI]
|
6.53557e-05
|
|
|
carbimazole sensitivity
|
[NCBI]
|
6.53557e-05
|
|
|
ATCAY
|
[NCBI]
|
6.53557e-05
|
|
|
BPES
|
[NCBI]
|
6.53175e-05
|
|
|
VWS
|
[NCBI]
|
6.21419e-05
|
|
|
CVG/MR
|
[NCBI]
|
6.12902e-05
|
|
|
knuckle pads, leukonychia, and sensorineural deafness
|
[NCBI]
|
6.12902e-05
|
|
|
NPS
|
[NCBI]
|
5.88316e-05
|
|
|
FGFR2
|
[NCBI]
|
5.84283e-05
|
|
|
ORM1
|
[NCBI]
|
5.82942e-05
|
|
|
PPP1R13L
|
[NCBI]
|
5.82942e-05
|
|
|
zunich neuroectodermal syndrome
|
[NCBI]
|
5.80566e-05
|
|
|
HGPS
|
[NCBI]
|
5.58668e-05
|
|
|
FST
|
[NCBI]
|
5.57854e-05
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
5.53726e-05
|
|
|
NSDHL
|
[NCBI]
|
5.37868e-05
|
|
|
ZMPSTE24
|
[NCBI]
|
5.21252e-05
|
|
|
JUP
|
[NCBI]
|
5.21252e-05
|
|
|
MAP2K1
|
[NCBI]
|
5.07031e-05
|
|
|
SFN
|
[NCBI]
|
4.94602e-05
|
|
|
RECQL4
|
[NCBI]
|
4.94602e-05
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
4.93037e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
4.93037e-05
|
|
|
FGF3
|
[NCBI]
|
4.83564e-05
|
|
|
noonan-like/multiple giant cell lesion syndrome
|
[NCBI]
|
4.77103e-05
|
|
|
sturge-weber syndrome
|
[NCBI]
|
4.77103e-05
|
|
|
CLPED1
|
[NCBI]
|
4.77103e-05
|
|
|
HFM
|
[NCBI]
|
4.64314e-05
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
4.62651e-05
|
|
|
disorganization, mouse, homolog of
|
[NCBI]
|
4.49431e-05
|
|
|
EBP
|
[NCBI]
|
4.35047e-05
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
4.25969e-05
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
4.25969e-05
|
|
|
gaucher disease, type ii
|
[NCBI]
|
4.25969e-05
|
|
|
tyrosine transaminase deficiency
|
[NCBI]
|
4.23038e-05
|
|
|
DST
|
[NCBI]
|
4.12337e-05
|
|
|
EDA
|
[NCBI]
|
4.12337e-05
|
|
|
TGM1
|
[NCBI]
|
4.07395e-05
|
|
|
AK1
|
[NCBI]
|
4.02689e-05
|
|
|
PTPN11
|
[NCBI]
|
4.02689e-05
|
|
|
ACVRL1
|
[NCBI]
|
3.8979e-05
|
|
|
KFSD
|
[NCBI]
|
3.87682e-05
|
|
|
IP
|
[NCBI]
|
3.84185e-05
|
|
|
ICAM1
|
[NCBI]
|
3.82048e-05
|
|
|
ichthyosis congenita, harlequin fetus type
|
[NCBI]
|
3.71647e-05
|
|
|
DDD
|
[NCBI]
|
3.64229e-05
|
|
|
ORW2
|
[NCBI]
|
3.64229e-05
|
|
|
CEACAM1
|
[NCBI]
|
3.5895e-05
|
|
|
PIGA
|
[NCBI]
|
3.56056e-05
|
|
|
ALDH3A2
|
[NCBI]
|
3.53245e-05
|
|
|
MADA
|
[NCBI]
|
3.37783e-05
|
|
|
neural tube defects
|
[NCBI]
|
3.31852e-05
|
|
|
HRAS
|
[NCBI]
|
3.2465e-05
|
|
|
leopard syndrome 1
|
[NCBI]
|
3.10278e-05
|
|
|
fraser syndrome
|
[NCBI]
|
3.05353e-05
|
|
|
PKS
|
[NCBI]
|
3.00591e-05
|
|
|
EVC
|
[NCBI]
|
2.74953e-05
|
|
|
LMNA
|
[NCBI]
|
2.57654e-05
|
|
|
FBN1
|
[NCBI]
|
2.44334e-05
|
|
|
LI1
|
[NCBI]
|
2.34625e-05
|
|
|
CES
|
[NCBI]
|
2.3175e-05
|
|
|
HDC
|
[NCBI]
|
2.29606e-05
|
|
|
RTS
|
[NCBI]
|
2.20843e-05
|
|
|
SLS
|
[NCBI]
|
1.68176e-05
|
|
|
menkes disease
|
[NCBI]
|
1.58352e-05
|
|
|
POMC
|
[NCBI]
|
1.41802e-05
|
|
|
SHH
|
[NCBI]
|
1.40702e-05
|
|
|
CDLS1
|
[NCBI]
|
1.19229e-05
|
|
|
EV
|
[NCBI]
|
8.58014e-06
|
|
|
MUC1
|
[NCBI]
|
7.13584e-06
|
|
|
WBS
|
[NCBI]
|
5.78542e-06
|
|
|
MFS
|
[NCBI]
|
3.56692e-06
|
|
|
EGF
|
[NCBI]
|
3.73336e-07
|
|
|
CEACAM5
|
[NCBI]
|
2.35254e-07
|
|
|
EGFR
|
[NCBI]
|
1.98611e-09
|
|