|
OMIM |
Link |
Information gain |
01 |
|
stiff skin syndrome
|
[NCBI]
|
0.00170115
|
|
|
proteus syndrome
|
[NCBI]
|
0.00116739
|
|
|
dupuytren contracture
|
[NCBI]
|
0.000809899
|
|
|
TKCR
|
[NCBI]
|
0.000809899
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.000809899
|
|
|
collagenosis, familial reactive perforating
|
[NCBI]
|
0.000753845
|
|
|
acromial dimples
|
[NCBI]
|
0.000753845
|
|
|
camptodactyly
|
[NCBI]
|
0.000753845
|
|
|
acetabular dysplasia
|
[NCBI]
|
0.000672369
|
|
|
ehlers-danlos syndrome, type vib
|
[NCBI]
|
0.000613355
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.000613355
|
|
|
storage pool platelet disease
|
[NCBI]
|
0.000589007
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000567166
|
|
|
MVP
|
[NCBI]
|
0.000445089
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000354442
|
|
|
ATD1
|
[NCBI]
|
0.000340489
|
|
|
PXE
|
[NCBI]
|
0.000290129
|
|
|
ehlers-danlos syndrome, type i
|
[NCBI]
|
0.000277622
|
|
|
epidermolysis bullosa dystrophica, pasini type
|
[NCBI]
|
0.0002389
|
|
|
buschke-ollendorff syndrome
|
[NCBI]
|
0.00021593
|
|
|
PDP
|
[NCBI]
|
0.000209989
|
|
|
FMD
|
[NCBI]
|
0.000195237
|
|
|
ehlers-danlos syndrome, type vii, autosomal recessive
|
[NCBI]
|
0.000191081
|
|
|
gigantiform cementoma, familial
|
[NCBI]
|
0.000178497
|
|
|
spondyloepiphyseal dysplasia with punctate corneal dystrophy
|
[NCBI]
|
0.000178497
|
|
|
craniofacial dysmorphism with ocular coloboma, absent corpus callosum, and aortic dilatation
|
[NCBI]
|
0.000178497
|
|
|
RA
|
[NCBI]
|
0.000147279
|
|
|
fascial dystrophy, congenital
|
[NCBI]
|
0.000139271
|
|
|
acrocephalopolydactylous dysplasia
|
[NCBI]
|
0.000139271
|
|
|
pachydermodactyly, familial
|
[NCBI]
|
0.000124498
|
|
|
fibrosclerosis, multifocal
|
[NCBI]
|
0.000124498
|
|
|
marfanoid hypermobility syndrome
|
[NCBI]
|
0.000124498
|
|
|
HHT
|
[NCBI]
|
0.00012075
|
|
|
mucolipidosis ii
|
[NCBI]
|
0.000115605
|
|
|
hyalinosis, infantile systemic
|
[NCBI]
|
0.000114922
|
|
|
ankyloblepharon filiforme adnatum and cleft palate
|
[NCBI]
|
0.000107815
|
|
|
CTGF
|
[NCBI]
|
9.81832e-05
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
9.74697e-05
|
|
|
WSS
|
[NCBI]
|
9.74697e-05
|
|
|
osseous heteroplasia, progressive
|
[NCBI]
|
9.34601e-05
|
|
|
megalencephaly-cutis marmorata telangiectatica congenita
|
[NCBI]
|
9.34601e-05
|
|
|
cutis laxa, autosomal dominant
|
[NCBI]
|
8.99611e-05
|
|
|
alkaptonuria
|
[NCBI]
|
8.68583e-05
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
8.6143e-05
|
|
|
leopard syndrome 1
|
[NCBI]
|
8.40721e-05
|
|
|
ichthyosis vulgaris
|
[NCBI]
|
8.40721e-05
|
|
|
ATS
|
[NCBI]
|
8.40721e-05
|
|
|
NM
|
[NCBI]
|
7.92327e-05
|
|
|
OCA2
|
[NCBI]
|
7.71029e-05
|
|
|
WFDC1
|
[NCBI]
|
7.58014e-05
|
|
|
UCMD
|
[NCBI]
|
7.51293e-05
|
|
|
IBM2
|
[NCBI]
|
7.15707e-05
|
|
|
MFS
|
[NCBI]
|
6.99459e-05
|
|
|
MADA
|
[NCBI]
|
6.69918e-05
|
|
|
MNS
|
[NCBI]
|
6.69918e-05
|
|
|
MUC1
|
[NCBI]
|
6.36557e-05
|
|
|
EBR1
|
[NCBI]
|
6.30921e-05
|
|
|
mucolipidosis iv
|
[NCBI]
|
6.07826e-05
|
|
|
RSMD1
|
[NCBI]
|
5.86627e-05
|
|
|
CMTC
|
[NCBI]
|
5.76649e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
5.65593e-05
|
|
|
LDHA
|
[NCBI]
|
5.65593e-05
|
|
|
ABCC6
|
[NCBI]
|
5.38274e-05
|
|
|
MMP1
|
[NCBI]
|
5.38274e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
5.31905e-05
|
|
|
RTS
|
[NCBI]
|
5.23836e-05
|
|
|
LSA
|
[NCBI]
|
5.23836e-05
|
|
|
COL22A1
|
[NCBI]
|
5.16183e-05
|
|
|
DCN
|
[NCBI]
|
4.957e-05
|
|
|
hurler syndrome
|
[NCBI]
|
4.87011e-05
|
|
|
FBN1
|
[NCBI]
|
4.17011e-05
|
|
|
SIX2
|
[NCBI]
|
4.16401e-05
|
|
|
FBN3
|
[NCBI]
|
4.16401e-05
|
|
|
PRELP
|
[NCBI]
|
4.16401e-05
|
|
|
SLE
|
[NCBI]
|
4.07494e-05
|
|
|
WRN
|
[NCBI]
|
3.96834e-05
|
|
|
LBP
|
[NCBI]
|
3.9091e-05
|
|
|
ESA4
|
[NCBI]
|
3.78774e-05
|
|
|
EYA3
|
[NCBI]
|
3.78774e-05
|
|
|
MFAP2
|
[NCBI]
|
3.78774e-05
|
|
|
EGF
|
[NCBI]
|
3.74605e-05
|
|
|
ACP5
|
[NCBI]
|
3.71598e-05
|
|
|
CF
|
[NCBI]
|
3.55137e-05
|
|
|
THBS2
|
[NCBI]
|
3.21771e-05
|
|
|
TIMP2
|
[NCBI]
|
3.09768e-05
|
|
|
TNC
|
[NCBI]
|
2.97845e-05
|
|
|
EYA2
|
[NCBI]
|
2.82566e-05
|
|
|
PPBP
|
[NCBI]
|
2.82566e-05
|
|
|
PAPSS2
|
[NCBI]
|
2.75408e-05
|
|
|
CXCL2
|
[NCBI]
|
2.75408e-05
|
|
|
PCNA
|
[NCBI]
|
2.71731e-05
|
|
|
CCL3
|
[NCBI]
|
2.68907e-05
|
|
|
ALOX5
|
[NCBI]
|
2.68907e-05
|
|
|
SIX1
|
[NCBI]
|
2.62954e-05
|
|
|
CD
|
[NCBI]
|
2.53666e-05
|
|
|
IL17A
|
[NCBI]
|
2.3899e-05
|
|
|
EYA1
|
[NCBI]
|
2.35042e-05
|
|
|
DFSP
|
[NCBI]
|
2.33994e-05
|
|
|
krabbe disease
|
[NCBI]
|
2.33994e-05
|
|
|
MMP12
|
[NCBI]
|
2.31306e-05
|
|
|
TK1
|
[NCBI]
|
2.27759e-05
|
|
|
HPS
|
[NCBI]
|
2.25624e-05
|
|
|
DHH
|
[NCBI]
|
2.15141e-05
|
|
|
FANCA
|
[NCBI]
|
2.15141e-05
|
|
|
HGFAC
|
[NCBI]
|
2.12315e-05
|
|
|
ADM
|
[NCBI]
|
2.0603e-05
|
|
|
STAT4
|
[NCBI]
|
2.0447e-05
|
|
|
FN1
|
[NCBI]
|
2.02042e-05
|
|
|
CHGA
|
[NCBI]
|
1.97428e-05
|
|
|
FANCC
|
[NCBI]
|
1.97428e-05
|
|
|
COL3A1
|
[NCBI]
|
1.91042e-05
|
|
|
BGN
|
[NCBI]
|
1.81572e-05
|
|
|
KIT
|
[NCBI]
|
1.79826e-05
|
|
|
MYH11
|
[NCBI]
|
1.78125e-05
|
|
|
LIF
|
[NCBI]
|
1.78125e-05
|
|
|
CSF2
|
[NCBI]
|
1.76466e-05
|
|
|
homocystinuria
|
[NCBI]
|
1.63131e-05
|
|
|
OSM
|
[NCBI]
|
1.58558e-05
|
|
|
TGFB1
|
[NCBI]
|
1.56735e-05
|
|
|
COL1A1
|
[NCBI]
|
1.5434e-05
|
|
|
SHH
|
[NCBI]
|
1.50544e-05
|
|
|
SRC
|
[NCBI]
|
1.26189e-05
|
|
|
FGF7
|
[NCBI]
|
1.23849e-05
|
|
|
FGFR1
|
[NCBI]
|
1.11419e-05
|
|
|
PTHLH
|
[NCBI]
|
1.04048e-05
|
|
|
PI
|
[NCBI]
|
9.95619e-06
|
|
|
RB1
|
[NCBI]
|
8.73073e-06
|
|
|
KITLG
|
[NCBI]
|
8.42477e-06
|
|
|
SST
|
[NCBI]
|
7.72787e-06
|
|
|
SLC18A3
|
[NCBI]
|
7.47289e-06
|
|
|
ACE
|
[NCBI]
|
7.20027e-06
|
|
|
SPP1
|
[NCBI]
|
6.26631e-06
|
|
|
SDC2
|
[NCBI]
|
5.15949e-06
|
|
|
TS
|
[NCBI]
|
5.10645e-06
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
4.32766e-06
|
|
|
TNF
|
[NCBI]
|
2.70221e-06
|
|
|
VEGF
|
[NCBI]
|
1.94402e-06
|
|
|
NGFB
|
[NCBI]
|
1.48258e-06
|
|
|
ADCYAP1
|
[NCBI]
|
1.19367e-06
|
|
|
CHAT
|
[NCBI]
|
1.156e-06
|
|
|
AR
|
[NCBI]
|
1.00532e-06
|
|
|
TG
|
[NCBI]
|
9.93898e-07
|
|
|
FA
|
[NCBI]
|
6.94759e-07
|
|
|
RNASE3
|
[NCBI]
|
6.67381e-07
|
|
|
CEACAM5
|
[NCBI]
|
5.7697e-07
|
|
|
NPY
|
[NCBI]
|
4.63178e-07
|
|
|
G6PD
|
[NCBI]
|
4.12307e-07
|
|
|
GDNF
|
[NCBI]
|
2.75549e-07
|
|
|
MBP
|
[NCBI]
|
2.61158e-07
|
|
|
CAT
|
[NCBI]
|
2.45224e-07
|
|
|
GFAP
|
[NCBI]
|
1.90758e-07
|
|
|
LPL
|
[NCBI]
|
1.56846e-07
|
|
|
HGF
|
[NCBI]
|
1.3921e-07
|
|
|
EPO
|
[NCBI]
|
9.01915e-08
|
|
|
PRL
|
[NCBI]
|
8.80545e-08
|
|
|
NPPA
|
[NCBI]
|
8.31125e-08
|
|
|
TNFSF6
|
[NCBI]
|
1.09326e-09
|
|
|
TH
|
[NCBI]
|
1.50251e-10
|
|
|
F3
|
[NCBI]
|
1.20403e-10
|
|