|
OMIM |
Link |
Information gain |
01 |
|
IH
|
[NCBI]
|
0.0052167
|
|
|
proteus syndrome
|
[NCBI]
|
0.00252889
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.0020069
|
|
|
APC
|
[NCBI]
|
0.00180006
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.00159333
|
|
|
SRS
|
[NCBI]
|
0.000801313
|
|
|
muscular dystrophy, pseudohypertrophic, with internalized capillaries
|
[NCBI]
|
0.00079215
|
|
|
ZLS
|
[NCBI]
|
0.000746852
|
|
|
MRX1
|
[NCBI]
|
0.000633794
|
|
|
pyloric stenosis, infantile hypertrophic, 2
|
[NCBI]
|
0.000493952
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.00040283
|
|
|
IHH
|
[NCBI]
|
0.000312879
|
|
|
CMH
|
[NCBI]
|
0.000306744
|
|
|
visceral neuropathy, familial, autosomal recessive
|
[NCBI]
|
0.000306663
|
|
|
SLE
|
[NCBI]
|
0.000298161
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
0.000290172
|
|
|
bartter syndrome, type 3
|
[NCBI]
|
0.000281807
|
|
|
IHPS1
|
[NCBI]
|
0.000263775
|
|
|
ACG1A
|
[NCBI]
|
0.000228725
|
|
|
BWS
|
[NCBI]
|
0.000215436
|
|
|
RA
|
[NCBI]
|
0.000202597
|
|
|
MSTN
|
[NCBI]
|
0.000184617
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
0.000181268
|
|
|
CTGF
|
[NCBI]
|
0.000179262
|
|
|
EGF
|
[NCBI]
|
0.000171397
|
|
|
CMT1B
|
[NCBI]
|
0.000171322
|
|
|
NPPA
|
[NCBI]
|
0.000164852
|
|
|
HMN2A
|
[NCBI]
|
0.00012117
|
|
|
CCK
|
[NCBI]
|
0.000119691
|
|
|
SRF
|
[NCBI]
|
0.000117897
|
|
|
leiomyomatosis, esophageal and vulval, with nephropathy
|
[NCBI]
|
0.000117774
|
|
|
CF
|
[NCBI]
|
0.00011744
|
|
|
CMD1X
|
[NCBI]
|
0.000100971
|
|
|
prolactin deficiency with obesity and enlarged testes
|
[NCBI]
|
0.000100971
|
|
|
cheilitis glandularis
|
[NCBI]
|
0.000100971
|
|
|
facial asymmetry
|
[NCBI]
|
0.000100971
|
|
|
masticatory muscles, hypertrophy of
|
[NCBI]
|
0.000100971
|
|
|
angiokeratoma corporis diffusum with arteriovenous fistulas
|
[NCBI]
|
0.000100971
|
|
|
hypertrophic neuropathy and cataract
|
[NCBI]
|
0.000100971
|
|
|
acanthosis nigricans with muscle cramps and acral enlargement
|
[NCBI]
|
0.000100971
|
|
|
myotonia congenita, autosomal dominant
|
[NCBI]
|
9.55775e-05
|
|
|
GFAP
|
[NCBI]
|
9.38148e-05
|
|
|
RMD
|
[NCBI]
|
8.97892e-05
|
|
|
PPH1
|
[NCBI]
|
8.60637e-05
|
|
|
HDAC4
|
[NCBI]
|
8.60627e-05
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
8.29205e-05
|
|
|
CHNG2
|
[NCBI]
|
8.27416e-05
|
|
|
CD
|
[NCBI]
|
8.06212e-05
|
|
|
IGF1
|
[NCBI]
|
7.99991e-05
|
|
|
FRAP1
|
[NCBI]
|
7.89019e-05
|
|
|
anal sphincter myopathy, internal
|
[NCBI]
|
7.85305e-05
|
|
|
hemifacial myohyperplasia
|
[NCBI]
|
7.85305e-05
|
|
|
spondyloepimetaphyseal dysplasia, shohat type
|
[NCBI]
|
7.85305e-05
|
|
|
PPP3CA
|
[NCBI]
|
7.7932e-05
|
|
|
MEG3
|
[NCBI]
|
7.48669e-05
|
|
|
NFATC1
|
[NCBI]
|
7.48669e-05
|
|
|
KLK3
|
[NCBI]
|
6.87385e-05
|
|
|
VRNI
|
[NCBI]
|
6.50869e-05
|
|
|
LGMD2K
|
[NCBI]
|
6.46038e-05
|
|
|
POMT1
|
[NCBI]
|
6.4228e-05
|
|
|
UBTF
|
[NCBI]
|
6.26576e-05
|
|
|
BRRS
|
[NCBI]
|
6.17299e-05
|
|
|
uniparental disomy, paternal, chromosome 14
|
[NCBI]
|
6.05397e-05
|
|
|
CDD
|
[NCBI]
|
6.05397e-05
|
|
|
MIRN214
|
[NCBI]
|
5.97063e-05
|
|
|
MIRN23A
|
[NCBI]
|
5.97063e-05
|
|
|
SNTA1
|
[NCBI]
|
5.97063e-05
|
|
|
MPZL3
|
[NCBI]
|
5.97063e-05
|
|
|
MYOZ3
|
[NCBI]
|
5.97063e-05
|
|
|
MIRN195
|
[NCBI]
|
5.97063e-05
|
|
|
OBSCN
|
[NCBI]
|
5.97063e-05
|
|
|
MIRN199A1
|
[NCBI]
|
5.97063e-05
|
|
|
MIRN23B
|
[NCBI]
|
5.97063e-05
|
|
|
TMEM27
|
[NCBI]
|
5.97063e-05
|
|
|
MYOZ1
|
[NCBI]
|
5.97063e-05
|
|
|
AKAP6
|
[NCBI]
|
5.97063e-05
|
|
|
CMT1A
|
[NCBI]
|
5.74124e-05
|
|
|
macrocephaly/autism syndrome
|
[NCBI]
|
5.73075e-05
|
|
|
ADCC
|
[NCBI]
|
5.4625e-05
|
|
|
NGFB
|
[NCBI]
|
5.37715e-05
|
|
|
CDKN1A
|
[NCBI]
|
5.24051e-05
|
|
|
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
|
[NCBI]
|
5.23332e-05
|
|
|
RCM1
|
[NCBI]
|
5.23332e-05
|
|
|
MPZ
|
[NCBI]
|
5.08854e-05
|
|
|
RUNX2
|
[NCBI]
|
5.07229e-05
|
|
|
PVOD
|
[NCBI]
|
5.03335e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
4.85605e-05
|
|
|
WT1
|
[NCBI]
|
4.68166e-05
|
|
|
MYOZ2
|
[NCBI]
|
4.59501e-05
|
|
|
SCARB2
|
[NCBI]
|
4.59501e-05
|
|
|
RCBTB1
|
[NCBI]
|
4.59501e-05
|
|
|
leucine zipper- and sterile alpha motif-containing kinase
|
[NCBI]
|
4.59501e-05
|
|
|
NR1I3
|
[NCBI]
|
4.59501e-05
|
|
|
LIPE
|
[NCBI]
|
4.59501e-05
|
|
|
INPP1
|
[NCBI]
|
4.59501e-05
|
|
|
IGFBP4
|
[NCBI]
|
4.59501e-05
|
|
|
BMP10
|
[NCBI]
|
4.59501e-05
|
|
|
KLF15
|
[NCBI]
|
4.59501e-05
|
|
|
GDF11
|
[NCBI]
|
4.59501e-05
|
|
|
MIRN24-1
|
[NCBI]
|
4.59501e-05
|
|
|
MIRN125B2
|
[NCBI]
|
4.59501e-05
|
|
|
MIRN125B1
|
[NCBI]
|
4.59501e-05
|
|
|
wagr syndrome
|
[NCBI]
|
4.55248e-05
|
|
|
lipomatosis, familial benign cervical
|
[NCBI]
|
4.55248e-05
|
|
|
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
|
[NCBI]
|
4.55248e-05
|
|
|
LGMD1A
|
[NCBI]
|
4.42043e-05
|
|
|
EKD1
|
[NCBI]
|
4.35698e-05
|
|
|
ACG2
|
[NCBI]
|
4.2988e-05
|
|
|
kniest dysplasia
|
[NCBI]
|
4.1861e-05
|
|
|
CHNG1
|
[NCBI]
|
4.08114e-05
|
|
|
KY
|
[NCBI]
|
4.07731e-05
|
|
|
RNF28
|
[NCBI]
|
4.07731e-05
|
|
|
PTEN
|
[NCBI]
|
3.94065e-05
|
|
|
IL25
|
[NCBI]
|
3.74198e-05
|
|
|
RAPGEF3
|
[NCBI]
|
3.74198e-05
|
|
|
PDLIM3
|
[NCBI]
|
3.74198e-05
|
|
|
ANXA7
|
[NCBI]
|
3.74198e-05
|
|
|
apc gene
|
[NCBI]
|
3.64206e-05
|
|
|
HGF
|
[NCBI]
|
3.57724e-05
|
|
|
diabetes insipidus, neurohypophyseal type
|
[NCBI]
|
3.56972e-05
|
|
|
SMAX1
|
[NCBI]
|
3.53071e-05
|
|
|
PPAC
|
[NCBI]
|
3.4992e-05
|
|
|
EGFR
|
[NCBI]
|
3.49397e-05
|
|
|
GAN1
|
[NCBI]
|
3.36752e-05
|
|
|
LDB3
|
[NCBI]
|
3.29554e-05
|
|
|
SLC27A1
|
[NCBI]
|
3.29554e-05
|
|
|
GAN
|
[NCBI]
|
3.29554e-05
|
|
|
myopathy, myofibrillar, desmin-related
|
[NCBI]
|
3.24668e-05
|
|
|
PTHLH
|
[NCBI]
|
3.20913e-05
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
3.19187e-05
|
|
|
NR1H3
|
[NCBI]
|
3.13153e-05
|
|
|
PPARBP
|
[NCBI]
|
3.13153e-05
|
|
|
MKKS
|
[NCBI]
|
3.03153e-05
|
|
|
UCP1
|
[NCBI]
|
3.03018e-05
|
|
|
AFP
|
[NCBI]
|
3.02373e-05
|
|
|
TNF
|
[NCBI]
|
3.00242e-05
|
|
|
PDE4D
|
[NCBI]
|
2.99148e-05
|
|
|
MPO
|
[NCBI]
|
2.87578e-05
|
|
|
FBXO32
|
[NCBI]
|
2.86935e-05
|
|
|
EVA
|
[NCBI]
|
2.80139e-05
|
|
|
TPM3
|
[NCBI]
|
2.76112e-05
|
|
|
MMP14
|
[NCBI]
|
2.76112e-05
|
|
|
RPS6
|
[NCBI]
|
2.76112e-05
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
2.749e-05
|
|
|
ACCN2
|
[NCBI]
|
2.66399e-05
|
|
|
STAT3
|
[NCBI]
|
2.65622e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
2.60373e-05
|
|
|
CYBA
|
[NCBI]
|
2.57594e-05
|
|
|
CMD1A
|
[NCBI]
|
2.49746e-05
|
|
|
FKTN
|
[NCBI]
|
2.49546e-05
|
|
|
CRC
|
[NCBI]
|
2.4791e-05
|
|
|
CMTC
|
[NCBI]
|
2.43097e-05
|
|
|
SJS1
|
[NCBI]
|
2.43097e-05
|
|
|
ATP2A2
|
[NCBI]
|
2.42136e-05
|
|
|
PRKCM
|
[NCBI]
|
2.42136e-05
|
|
|
NEFL
|
[NCBI]
|
2.42136e-05
|
|
|
BMD
|
[NCBI]
|
2.39892e-05
|
|
|
CHAT
|
[NCBI]
|
2.3978e-05
|
|
|
KCNQ1OT1
|
[NCBI]
|
2.35275e-05
|
|
|
CDKN1B
|
[NCBI]
|
2.35275e-05
|
|
|
DAG1
|
[NCBI]
|
2.35275e-05
|
|
|
CHM
|
[NCBI]
|
2.19394e-05
|
|
|
MTM1
|
[NCBI]
|
2.14083e-05
|
|
|
CDKN1C
|
[NCBI]
|
2.12029e-05
|
|
|
CASR
|
[NCBI]
|
2.09239e-05
|
|
|
GHR
|
[NCBI]
|
2.09239e-05
|
|
|
CYP11B2
|
[NCBI]
|
2.07039e-05
|
|
|
PRKAR1A
|
[NCBI]
|
2.07039e-05
|
|
|
BAX
|
[NCBI]
|
2.07039e-05
|
|
|
H19
|
[NCBI]
|
1.93546e-05
|
|
|
CRMO
|
[NCBI]
|
1.92594e-05
|
|
|
TCOF
|
[NCBI]
|
1.88283e-05
|
|
|
LQT1
|
[NCBI]
|
1.82088e-05
|
|
|
MAPK1
|
[NCBI]
|
1.81836e-05
|
|
|
GDF5
|
[NCBI]
|
1.78257e-05
|
|
|
AKT1
|
[NCBI]
|
1.78257e-05
|
|
|
COL10A1
|
[NCBI]
|
1.74819e-05
|
|
|
MYH11
|
[NCBI]
|
1.74819e-05
|
|
|
OCP
|
[NCBI]
|
1.72422e-05
|
|
|
NPY
|
[NCBI]
|
1.72272e-05
|
|
|
CAV3
|
[NCBI]
|
1.71513e-05
|
|
|
IGF2
|
[NCBI]
|
1.6833e-05
|
|
|
SVAS
|
[NCBI]
|
1.58442e-05
|
|
|
AQP4
|
[NCBI]
|
1.56668e-05
|
|
|
AGT
|
[NCBI]
|
1.56668e-05
|
|
|
CCD
|
[NCBI]
|
1.55198e-05
|
|
|
PCNA
|
[NCBI]
|
1.30866e-05
|
|
|
ABCC2
|
[NCBI]
|
1.27254e-05
|
|
|
MMP9
|
[NCBI]
|
1.25383e-05
|
|
|
KAL1
|
[NCBI]
|
1.2003e-05
|
|
|
TGFB1
|
[NCBI]
|
1.15028e-05
|
|
|
VIP
|
[NCBI]
|
1.13946e-05
|
|
|
CDLS1
|
[NCBI]
|
1.13361e-05
|
|
|
FGF7
|
[NCBI]
|
1.12618e-05
|
|
|
ACH
|
[NCBI]
|
1.09166e-05
|
|
|
glycogen storage disease i
|
[NCBI]
|
1.07371e-05
|
|
|
BBS
|
[NCBI]
|
1.02249e-05
|
|
|
TH
|
[NCBI]
|
1.01173e-05
|
|
|
RYR1
|
[NCBI]
|
9.78495e-06
|
|
|
PMD
|
[NCBI]
|
9.76114e-06
|
|
|
NGFR
|
[NCBI]
|
8.51117e-06
|
|
|
CAT
|
[NCBI]
|
7.93977e-06
|
|
|
RASA1
|
[NCBI]
|
7.81227e-06
|
|
|
GJB1
|
[NCBI]
|
7.71842e-06
|
|
|
PPARA
|
[NCBI]
|
7.12668e-06
|
|
|
AHR
|
[NCBI]
|
7.12363e-06
|
|
|
NPM1
|
[NCBI]
|
7.01518e-06
|
|
|
TNC
|
[NCBI]
|
6.93279e-06
|
|
|
AIS
|
[NCBI]
|
6.45968e-06
|
|
|
TG
|
[NCBI]
|
6.34799e-06
|
|
|
ILK
|
[NCBI]
|
6.31267e-06
|
|
|
SHH
|
[NCBI]
|
6.1591e-06
|
|
|
GAPDH
|
[NCBI]
|
6.1591e-06
|
|
|
INSR
|
[NCBI]
|
6.02644e-06
|
|
|
CNTF
|
[NCBI]
|
6.01599e-06
|
|
|
leber optic atrophy
|
[NCBI]
|
6.00082e-06
|
|
|
MBP
|
[NCBI]
|
5.67173e-06
|
|
|
G6PD
|
[NCBI]
|
5.6459e-06
|
|
|
GAL
|
[NCBI]
|
5.55934e-06
|
|
|
CDK4
|
[NCBI]
|
5.55934e-06
|
|
|
WBS
|
[NCBI]
|
5.3185e-06
|
|
|
MEN1
|
[NCBI]
|
5.07246e-06
|
|
|
MB
|
[NCBI]
|
5.01481e-06
|
|
|
HDC
|
[NCBI]
|
4.73644e-06
|
|
|
SOD2
|
[NCBI]
|
4.61852e-06
|
|
|
AGER
|
[NCBI]
|
4.52499e-06
|
|
|
ADCYAP1
|
[NCBI]
|
4.42281e-06
|
|
|
PJS
|
[NCBI]
|
4.35994e-06
|
|
|
PXE
|
[NCBI]
|
3.95763e-06
|
|
|
PDCD8
|
[NCBI]
|
3.89958e-06
|
|
|
AMH
|
[NCBI]
|
3.811e-06
|
|
|
PMP22
|
[NCBI]
|
2.95048e-06
|
|
|
AR
|
[NCBI]
|
2.6183e-06
|
|
|
PTK2
|
[NCBI]
|
2.59226e-06
|
|
|
CRH
|
[NCBI]
|
2.57678e-06
|
|
|
VDR
|
[NCBI]
|
2.47859e-06
|
|
|
PRL
|
[NCBI]
|
2.34734e-06
|
|
|
MUC1
|
[NCBI]
|
2.32676e-06
|
|
|
DMD
|
[NCBI]
|
2.20769e-06
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
1.9718e-06
|
|
|
LPL
|
[NCBI]
|
1.74177e-06
|
|
|
BDNF
|
[NCBI]
|
1.31686e-06
|
|
|
AT
|
[NCBI]
|
1.29548e-06
|
|
|
PWS
|
[NCBI]
|
8.1056e-07
|
|
|
SPP1
|
[NCBI]
|
6.99091e-07
|
|
|
SHBG
|
[NCBI]
|
6.45344e-07
|
|
|
polycystic kidneys
|
[NCBI]
|
5.65246e-07
|
|
|
AVP
|
[NCBI]
|
5.22953e-07
|
|
|
TPO
|
[NCBI]
|
4.46113e-07
|
|
|
FMF
|
[NCBI]
|
4.1933e-07
|
|
|
GDNF
|
[NCBI]
|
3.21095e-07
|
|
|
HP
|
[NCBI]
|
2.99935e-07
|
|
|
POMC
|
[NCBI]
|
2.27025e-07
|
|
|
NF1
|
[NCBI]
|
2.20976e-07
|
|
|
FA
|
[NCBI]
|
1.48783e-07
|
|
|
CJD
|
[NCBI]
|
1.32889e-07
|
|
|
PTH
|
[NCBI]
|
1.30101e-07
|
|
|
TLR4
|
[NCBI]
|
8.07941e-08
|
|
|
MDD
|
[NCBI]
|
7.30575e-08
|
|
|
ACHE
|
[NCBI]
|
4.92376e-08
|
|
|
TS
|
[NCBI]
|
1.98465e-08
|
|
|
ACP5
|
[NCBI]
|
1.0605e-08
|
|
|
VEGF
|
[NCBI]
|
1.4631e-09
|
|
|
XDH
|
[NCBI]
|
3.9366e-10
|
|