|
OMIM |
Link |
Information gain |
01 |
|
RA
|
[NCBI]
|
0.00521616
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.00300569
|
|
|
small cell cancer of the lung
|
[NCBI]
|
0.00276271
|
|
|
iminoglycinuria
|
[NCBI]
|
0.00269978
|
|
|
SLE
|
[NCBI]
|
0.00261647
|
|
|
leber optic atrophy, susceptibility to
|
[NCBI]
|
0.00199053
|
|
|
MTACR1
|
[NCBI]
|
0.00191306
|
|
|
hyperbilirubinemia, rotor type
|
[NCBI]
|
0.00147659
|
|
|
TSD
|
[NCBI]
|
0.00113711
|
|
|
thyroid hormonogenesis, genetic defect in, 4
|
[NCBI]
|
0.00111532
|
|
|
HBB
|
[NCBI]
|
0.00110217
|
|
|
HBFQTL2
|
[NCBI]
|
0.00091056
|
|
|
EFMR
|
[NCBI]
|
0.000844966
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
0.000773823
|
|
|
EGF
|
[NCBI]
|
0.000744863
|
|
|
adenosine triphosphatase deficiency, anemia due to
|
[NCBI]
|
0.000737705
|
|
|
urate-binding globulin, decrease in
|
[NCBI]
|
0.000737705
|
|
|
migraine with aura, susceptibility to, 9
|
[NCBI]
|
0.000737705
|
|
|
AN
|
[NCBI]
|
0.000737705
|
|
|
cataract, ataxia, short stature, and mental retardation
|
[NCBI]
|
0.000737705
|
|
|
salivary substance, clostridium botulinum type
|
[NCBI]
|
0.000737705
|
|
|
leukoencephalopathy with metaphyseal chondrodysplasia
|
[NCBI]
|
0.000737705
|
|
|
MRX42
|
[NCBI]
|
0.000737705
|
|
|
MCPH4
|
[NCBI]
|
0.000737705
|
|
|
xanthomatosis, susceptibility to
|
[NCBI]
|
0.000737705
|
|
|
hyperreninemic hypoaldosteronism, familial, 2
|
[NCBI]
|
0.000737705
|
|
|
BRCD1
|
[NCBI]
|
0.000695656
|
|
|
PHP
|
[NCBI]
|
0.000695656
|
|
|
alzheimer disease 5
|
[NCBI]
|
0.000640252
|
|
|
ST3
|
[NCBI]
|
0.000616828
|
|
|
MG
|
[NCBI]
|
0.000599535
|
|
|
TNF
|
[NCBI]
|
0.000530788
|
|
|
AD
|
[NCBI]
|
0.000510771
|
|
|
MDD
|
[NCBI]
|
0.000505096
|
|
|
VEGF
|
[NCBI]
|
0.000478922
|
|
|
stomatocytosis ii
|
[NCBI]
|
0.000476566
|
|
|
malaria, mild, susceptibility to
|
[NCBI]
|
0.000476566
|
|
|
HCFP2
|
[NCBI]
|
0.000476566
|
|
|
mannose 6-phosphate receptor recognition defect, lebanese type
|
[NCBI]
|
0.000476566
|
|
|
dibasicaminoaciduria i
|
[NCBI]
|
0.000476566
|
|
|
FTSD
|
[NCBI]
|
0.000476566
|
|
|
PDB4
|
[NCBI]
|
0.000476566
|
|
|
NNCI
|
[NCBI]
|
0.000476566
|
|
|
CMTX2
|
[NCBI]
|
0.000476566
|
|
|
breast cancer, 11-22 translocation associated
|
[NCBI]
|
0.000476566
|
|
|
ataxia, sensory, autosomal dominant
|
[NCBI]
|
0.000476566
|
|
|
alacrima, congenital
|
[NCBI]
|
0.000476566
|
|
|
tumor suppressor gene on chromosome 11
|
[NCBI]
|
0.000476566
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000476271
|
|
|
ALD
|
[NCBI]
|
0.000455994
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
0.00045554
|
|
|
DMD
|
[NCBI]
|
0.000450884
|
|
|
OFC1
|
[NCBI]
|
0.000441595
|
|
|
AT
|
[NCBI]
|
0.000397581
|
|
|
MAFD2
|
[NCBI]
|
0.00038716
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.00038054
|
|
|
MHAC
|
[NCBI]
|
0.00038054
|
|
|
faciodigitogenital syndrome, recessive
|
[NCBI]
|
0.00038054
|
|
|
CMTX3
|
[NCBI]
|
0.00038054
|
|
|
SPG15
|
[NCBI]
|
0.00038054
|
|
|
alzheimer disease 11
|
[NCBI]
|
0.00038054
|
|
|
pentosuria
|
[NCBI]
|
0.00038054
|
|
|
MCOPS4
|
[NCBI]
|
0.00038054
|
|
|
autoimmune thyroid disease, susceptibility to, 2
|
[NCBI]
|
0.00038054
|
|
|
restless legs syndrome, susceptibility to, 3
|
[NCBI]
|
0.00038054
|
|
|
gangliosidosis, gm2, type iii, or juvenile type
|
[NCBI]
|
0.00038054
|
|
|
HHC2
|
[NCBI]
|
0.00038054
|
|
|
PDR
|
[NCBI]
|
0.00038054
|
|
|
split-hand/foot malformation with sensorineural hearing loss
|
[NCBI]
|
0.00038054
|
|
|
CHDS8
|
[NCBI]
|
0.00038054
|
|
|
dermal ridges-off-the-end
|
[NCBI]
|
0.00038054
|
|
|
vacuolar neuromyopathy
|
[NCBI]
|
0.00038054
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
0.000374274
|
|
|
CF
|
[NCBI]
|
0.000366616
|
|
|
NGFB
|
[NCBI]
|
0.000357019
|
|
|
G6PD
|
[NCBI]
|
0.000346267
|
|
|
proteus syndrome
|
[NCBI]
|
0.000340238
|
|
|
BRCA2
|
[NCBI]
|
0.000331267
|
|
|
HMPS1
|
[NCBI]
|
0.000319611
|
|
|
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
|
[NCBI]
|
0.000319611
|
|
|
DYT6
|
[NCBI]
|
0.000319611
|
|
|
RP6
|
[NCBI]
|
0.000319611
|
|
|
cholestasis-lymphedema syndrome
|
[NCBI]
|
0.000319611
|
|
|
ichthyosis follicularis, atrichia, and photophobia syndrome
|
[NCBI]
|
0.000319611
|
|
|
HHC3
|
[NCBI]
|
0.000319611
|
|
|
MRX23
|
[NCBI]
|
0.000319611
|
|
|
prognathism, mandibular
|
[NCBI]
|
0.000319611
|
|
|
RP24
|
[NCBI]
|
0.000319611
|
|
|
PN
|
[NCBI]
|
0.000319611
|
|
|
CHDM
|
[NCBI]
|
0.000319611
|
|
|
NPY
|
[NCBI]
|
0.000314263
|
|
|
APRT
|
[NCBI]
|
0.000304714
|
|
|
HBFQTL1
|
[NCBI]
|
0.00028874
|
|
|
PWS
|
[NCBI]
|
0.00028493
|
|
|
PRL
|
[NCBI]
|
0.000278705
|
|
|
WT3
|
[NCBI]
|
0.000275351
|
|
|
DYT7
|
[NCBI]
|
0.000275351
|
|
|
anosmia, congenital
|
[NCBI]
|
0.000275351
|
|
|
PCNA
|
[NCBI]
|
0.000274462
|
|
|
KLK3
|
[NCBI]
|
0.000265913
|
|
|
HFE
|
[NCBI]
|
0.000255629
|
|
|
PTH
|
[NCBI]
|
0.000254604
|
|
|
CRC
|
[NCBI]
|
0.000244443
|
|
|
HCFP1
|
[NCBI]
|
0.000240909
|
|
|
RNANC
|
[NCBI]
|
0.000240909
|
|
|
peho syndrome
|
[NCBI]
|
0.000240909
|
|
|
EKD2
|
[NCBI]
|
0.000240909
|
|
|
SCAX1
|
[NCBI]
|
0.000240909
|
|
|
dysgnathia complex
|
[NCBI]
|
0.000240909
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.000240909
|
|
|
factor v deficiency
|
[NCBI]
|
0.00023135
|
|
|
FMF
|
[NCBI]
|
0.000231132
|
|
|
neuroblastoma
|
[NCBI]
|
0.000227052
|
|
|
GJB2
|
[NCBI]
|
0.000225913
|
|
|
ATRX
|
[NCBI]
|
0.000223711
|
|
|
CCK
|
[NCBI]
|
0.000222262
|
|
|
VIP
|
[NCBI]
|
0.000221856
|
|
|
CMM
|
[NCBI]
|
0.00022032
|
|
|
beta-aminoisobutyric acid, urinary excretion of
|
[NCBI]
|
0.000212954
|
|
|
BMND3
|
[NCBI]
|
0.000212954
|
|
|
spiegler-brooke syndrome
|
[NCBI]
|
0.000212954
|
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
0.000212954
|
|
|
CFEOM3
|
[NCBI]
|
0.000212954
|
|
|
gaucher disease, type i
|
[NCBI]
|
0.000211934
|
|
|
CEACAM5
|
[NCBI]
|
0.000210864
|
|
|
HBA2
|
[NCBI]
|
0.000204965
|
|
|
MTM1
|
[NCBI]
|
0.000204074
|
|
|
RCC1
|
[NCBI]
|
0.000204074
|
|
|
EGFR
|
[NCBI]
|
0.000203697
|
|
|
fabry disease
|
[NCBI]
|
0.000202997
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
0.00020244
|
|
|
CHM
|
[NCBI]
|
0.000200576
|
|
|
CFNS
|
[NCBI]
|
0.000197926
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
0.000193757
|
|
|
DYT1
|
[NCBI]
|
0.000193571
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
0.000189611
|
|
|
MCOPS1
|
[NCBI]
|
0.000189611
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000189611
|
|
|
CRH
|
[NCBI]
|
0.000189164
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
0.000186646
|
|
|
von willebrand disease, recessive form
|
[NCBI]
|
0.000186387
|
|
|
FSHMD1A
|
[NCBI]
|
0.000182913
|
|
|
BRCA1
|
[NCBI]
|
0.000181169
|
|
|
APL
|
[NCBI]
|
0.000172206
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
0.000171086
|
|
|
ACHE
|
[NCBI]
|
0.000170879
|
|
|
IBD2
|
[NCBI]
|
0.000169716
|
|
|
LDLR
|
[NCBI]
|
0.000163212
|
|
|
ACADM
|
[NCBI]
|
0.00016293
|
|
|
PI
|
[NCBI]
|
0.000162824
|
|
|
cystinuria
|
[NCBI]
|
0.000162666
|
|
|
glycogen storage disease ii
|
[NCBI]
|
0.000161721
|
|
|
APOB
|
[NCBI]
|
0.000160886
|
|
|
PXE
|
[NCBI]
|
0.000160182
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
0.000155472
|
|
|
HPRT1
|
[NCBI]
|
0.000154659
|
|
|
stiff skin syndrome
|
[NCBI]
|
0.000152497
|
|
|
MPO
|
[NCBI]
|
0.000151618
|
|
|
phenylketonuria
|
[NCBI]
|
0.000148655
|
|
|
HGF
|
[NCBI]
|
0.000147043
|
|
|
FXTAS
|
[NCBI]
|
0.000146592
|
|
|
LPL
|
[NCBI]
|
0.000146058
|
|
|
pheochromocytoma
|
[NCBI]
|
0.000145765
|
|
|
LNS
|
[NCBI]
|
0.000144951
|
|
|
CCD
|
[NCBI]
|
0.000144782
|
|
|
hypercholesterolemia, autosomal dominant
|
[NCBI]
|
0.000143064
|
|
|
AFP
|
[NCBI]
|
0.000142811
|
|
|
APOE
|
[NCBI]
|
0.000141139
|
|
|
weyers acrofacial dysostosis
|
[NCBI]
|
0.000140937
|
|
|
HBA1
|
[NCBI]
|
0.000137858
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
0.000137425
|
|
|
pygmy
|
[NCBI]
|
0.000137416
|
|
|
ACG1A
|
[NCBI]
|
0.000137416
|
|
|
OTSC1
|
[NCBI]
|
0.000137416
|
|
|
GTS
|
[NCBI]
|
0.000136476
|
|
|
galactokinase deficiency
|
[NCBI]
|
0.000136178
|
|
|
CJD
|
[NCBI]
|
0.00013214
|
|
|
CD
|
[NCBI]
|
0.00012992
|
|
|
CFTR
|
[NCBI]
|
0.000129676
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
0.00012899
|
|
|
HHC1
|
[NCBI]
|
0.00012899
|
|
|
PLP1
|
[NCBI]
|
0.000128082
|
|
|
F2
|
[NCBI]
|
0.000126806
|
|
|
MC4R
|
[NCBI]
|
0.000125727
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.000124083
|
|
|
LRRK2
|
[NCBI]
|
0.000123642
|
|
|
GFAP
|
[NCBI]
|
0.000122923
|
|
|
HEXA
|
[NCBI]
|
0.000122563
|
|
|
HBG1
|
[NCBI]
|
0.000120633
|
|
|
factor vii deficiency
|
[NCBI]
|
0.000118925
|
|
|
SPD1
|
[NCBI]
|
0.000114776
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
|
[NCBI]
|
0.000114776
|
|
|
PNDM
|
[NCBI]
|
0.000114776
|
|
|
fragile site 2q11
|
[NCBI]
|
0.00011388
|
|
|
ATM
|
[NCBI]
|
0.000113224
|
|
|
FEB1
|
[NCBI]
|
0.000112206
|
|
|
ST8
|
[NCBI]
|
0.000112206
|
|
|
esophageal cancer
|
[NCBI]
|
0.000108954
|
|
|
ND
|
[NCBI]
|
0.00010551
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
0.000105443
|
|
|
SANDO
|
[NCBI]
|
0.000104269
|
|
|
MYP2
|
[NCBI]
|
0.000101559
|
|
|
toenail dystrophy, isolated
|
[NCBI]
|
0.000100421
|
|
|
camptodactyly, tall stature, and hearing loss syndrome
|
[NCBI]
|
0.000100421
|
|
|
EVC
|
[NCBI]
|
0.000100211
|
|
|
TNFSF6
|
[NCBI]
|
0.000100204
|
|
|
ICP
|
[NCBI]
|
9.87049e-05
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
9.87049e-05
|
|
|
FTD
|
[NCBI]
|
9.74161e-05
|
|
|
usher syndrome, type i
|
[NCBI]
|
9.68385e-05
|
|
|
amyloidosis vi
|
[NCBI]
|
9.6482e-05
|
|
|
iron overload in africa
|
[NCBI]
|
9.61803e-05
|
|
|
SYNS1
|
[NCBI]
|
9.61803e-05
|
|
|
emanuel syndrome
|
[NCBI]
|
9.61803e-05
|
|
|
von willebrand disease
|
[NCBI]
|
9.60296e-05
|
|
|
CDSP
|
[NCBI]
|
9.49213e-05
|
|
|
NPC1
|
[NCBI]
|
9.43561e-05
|
|
|
GABEB
|
[NCBI]
|
9.41529e-05
|
|
|
EPO
|
[NCBI]
|
9.41394e-05
|
|
|
MBP
|
[NCBI]
|
9.20407e-05
|
|
|
AIC
|
[NCBI]
|
9.19671e-05
|
|
|
alopecia areata 1
|
[NCBI]
|
9.19671e-05
|
|
|
homocystinuria
|
[NCBI]
|
9.15218e-05
|
|
|
CASR
|
[NCBI]
|
9.02448e-05
|
|
|
CBAVD
|
[NCBI]
|
8.99196e-05
|
|
|
BCNS
|
[NCBI]
|
8.98154e-05
|
|
|
AVP
|
[NCBI]
|
8.9257e-05
|
|
|
NPPA
|
[NCBI]
|
8.92301e-05
|
|
|
trifunctional protein deficiency
|
[NCBI]
|
8.92161e-05
|
|
|
hematopoietic stem cell kinetics, control of
|
[NCBI]
|
8.92161e-05
|
|
|
APS1
|
[NCBI]
|
8.91899e-05
|
|
|
CHAT
|
[NCBI]
|
8.79995e-05
|
|
|
SLOS
|
[NCBI]
|
8.64572e-05
|
|
|
autonomic control, congenital failure of
|
[NCBI]
|
8.5968e-05
|
|
|
human immunodeficiency virus type 1, susceptibility to
|
[NCBI]
|
8.47969e-05
|
|
|
glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
|
[NCBI]
|
8.378e-05
|
|
|
cervical cancer
|
[NCBI]
|
8.378e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, infantile
|
[NCBI]
|
8.378e-05
|
|
|
IGAD1
|
[NCBI]
|
8.32888e-05
|
|
|
MRX1
|
[NCBI]
|
8.32888e-05
|
|
|
CCR5
|
[NCBI]
|
8.28424e-05
|
|
|
FA
|
[NCBI]
|
8.14606e-05
|
|
|
CAT
|
[NCBI]
|
8.08937e-05
|
|
|
PTS
|
[NCBI]
|
8.05793e-05
|
|
|
CGD
|
[NCBI]
|
7.94284e-05
|
|
|
ARSA
|
[NCBI]
|
7.90019e-05
|
|
|
deafness, conductive, with stapes fixation
|
[NCBI]
|
7.87912e-05
|
|
|
NF1
|
[NCBI]
|
7.87204e-05
|
|
|
giant platelet syndrome
|
[NCBI]
|
7.80519e-05
|
|
|
WRN
|
[NCBI]
|
7.7952e-05
|
|
|
HRPT2
|
[NCBI]
|
7.7705e-05
|
|
|
PMD
|
[NCBI]
|
7.7209e-05
|
|
|
sandhoff disease
|
[NCBI]
|
7.70208e-05
|
|
|
TTR
|
[NCBI]
|
7.58714e-05
|
|
|
polycystic kidneys
|
[NCBI]
|
7.5429e-05
|
|
|
FIH
|
[NCBI]
|
7.46281e-05
|
|
|
hemophilia a
|
[NCBI]
|
7.44851e-05
|
|
|
alzheimer disease 2
|
[NCBI]
|
7.28522e-05
|
|
|
denys-drash syndrome
|
[NCBI]
|
7.28522e-05
|
|
|
TH
|
[NCBI]
|
7.26126e-05
|
|
|
fragile site 10q25
|
[NCBI]
|
7.25596e-05
|
|
|
porencephaly, familial
|
[NCBI]
|
7.25596e-05
|
|
|
glycogen storage disease v
|
[NCBI]
|
7.24281e-05
|
|
|
LAMB3
|
[NCBI]
|
7.12324e-05
|
|
|
TBG
|
[NCBI]
|
7.10233e-05
|
|
|
RET
|
[NCBI]
|
6.99935e-05
|
|
|
GIST
|
[NCBI]
|
6.96152e-05
|
|
|
temporal arteritis
|
[NCBI]
|
6.96043e-05
|
|
|
gaucher disease, type iii
|
[NCBI]
|
6.95055e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
6.95055e-05
|
|
|
CPX
|
[NCBI]
|
6.95055e-05
|
|
|
EFNB1
|
[NCBI]
|
6.90152e-05
|
|
|
WS2E
|
[NCBI]
|
6.90102e-05
|
|
|
contiguous abcd1/dxs1375e deletion syndrome
|
[NCBI]
|
6.90102e-05
|
|
|
hyperhidrosis palmaris et plantaris
|
[NCBI]
|
6.90102e-05
|
|
|
HHF5
|
[NCBI]
|
6.90102e-05
|
|
|
skin fragility-woolly hair syndrome
|
[NCBI]
|
6.90102e-05
|
|
|
retinitis pigmentosa 37
|
[NCBI]
|
6.90102e-05
|
|
|
epilepsy, childhood absence, 3
|
[NCBI]
|
6.90102e-05
|
|
|
blood group--public systems
|
[NCBI]
|
6.90102e-05
|
|
|
phosphoserine aminotransferase deficiency
|
[NCBI]
|
6.90102e-05
|
|
|
epilepsy with grand mal seizures on awakening
|
[NCBI]
|
6.90102e-05
|
|
|
charcot-marie-tooth disease, dominant intermediate d
|
[NCBI]
|
6.90102e-05
|
|
|
carabelli anomaly of maxillary molar teeth
|
[NCBI]
|
6.90102e-05
|
|
|
fragile site 9q32
|
[NCBI]
|
6.90102e-05
|
|
|
acid phosphatase deficiency
|
[NCBI]
|
6.90102e-05
|
|
|
FSGS3
|
[NCBI]
|
6.90102e-05
|
|
|
SSS1
|
[NCBI]
|
6.90102e-05
|
|
|
cataract-ataxia-deafness-retardation syndrome
|
[NCBI]
|
6.90102e-05
|
|
|
nasal hyperpigmentation, familial transverse
|
[NCBI]
|
6.90102e-05
|
|
|
phosphatase, acid, of tissues
|
[NCBI]
|
6.90102e-05
|
|
|
hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy
|
[NCBI]
|
6.90102e-05
|
|
|
CDG2B
|
[NCBI]
|
6.90102e-05
|
|
|
deafness, congenital, with inner ear agenesis, microtia, and microdontia
|
[NCBI]
|
6.90102e-05
|
|
|
hemopoietic proliferation
|
[NCBI]
|
6.90102e-05
|
|
|
sclerocornea, autosomal dominant
|
[NCBI]
|
6.90102e-05
|
|
|
thyroid hormone metabolism, abnormal
|
[NCBI]
|
6.90102e-05
|
|
|
blood group--en
|
[NCBI]
|
6.90102e-05
|
|
|
immunoglobulin d level in plasma, low
|
[NCBI]
|
6.90102e-05
|
|
|
POF2B
|
[NCBI]
|
6.90102e-05
|
|
|
erythrocytosis, familial, 2
|
[NCBI]
|
6.84635e-05
|
|
|
LGMD2I
|
[NCBI]
|
6.84635e-05
|
|
|
ATD1
|
[NCBI]
|
6.82362e-05
|
|
|
IGAN1
|
[NCBI]
|
6.82362e-05
|
|
|
SHFM3
|
[NCBI]
|
6.82362e-05
|
|
|
diabetes insipidus, nephrogenic, x-linked
|
[NCBI]
|
6.67357e-05
|
|
|
hepatocellular carcinoma
|
[NCBI]
|
6.67357e-05
|
|
|
pta deficiency
|
[NCBI]
|
6.67066e-05
|
|
|
FMR1
|
[NCBI]
|
6.64898e-05
|
|
|
SDS
|
[NCBI]
|
6.53314e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
|
[NCBI]
|
6.44664e-05
|
|
|
complement factor h deficiency
|
[NCBI]
|
6.44664e-05
|
|
|
RPGR
|
[NCBI]
|
6.43904e-05
|
|
|
FPLD3
|
[NCBI]
|
6.41129e-05
|
|
|
boomerang dysplasia
|
[NCBI]
|
6.41129e-05
|
|
|
choreoathetosis, hypothyroidism, and neonatal respiratory distress
|
[NCBI]
|
6.41129e-05
|
|
|
cherubism
|
[NCBI]
|
6.41129e-05
|
|
|
keratoderma, palmoplantar, with deafness
|
[NCBI]
|
6.41129e-05
|
|
|
thrombophilia
|
[NCBI]
|
6.41129e-05
|
|
|
apc gene
|
[NCBI]
|
6.3936e-05
|
|
|
pyruvate kinase deficiency of red cells
|
[NCBI]
|
6.3915e-05
|
|
|
COL17A1
|
[NCBI]
|
6.27521e-05
|
|
|
aneurysm, intracranial berry, 1
|
[NCBI]
|
6.16892e-05
|
|
|
RB1
|
[NCBI]
|
6.09431e-05
|
|
|
FED
|
[NCBI]
|
6.08042e-05
|
|
|
porphyria, acute intermittent
|
[NCBI]
|
6.0133e-05
|
|
|
SPP1
|
[NCBI]
|
6.01121e-05
|
|
|
SMAD4
|
[NCBI]
|
5.92466e-05
|
|
|
VHL
|
[NCBI]
|
5.91824e-05
|
|
|
C9
|
[NCBI]
|
5.77827e-05
|
|
|
protein c deficiency, congenital thrombotic disease due to
|
[NCBI]
|
5.74573e-05
|
|
|
HMS
|
[NCBI]
|
5.73736e-05
|
|
|
HHRH
|
[NCBI]
|
5.73736e-05
|
|
|
F3
|
[NCBI]
|
5.69605e-05
|
|
|
homocysteinemia
|
[NCBI]
|
5.69543e-05
|
|
|
RP3
|
[NCBI]
|
5.69543e-05
|
|
|
RP2
|
[NCBI]
|
5.672e-05
|
|
|
CLN3
|
[NCBI]
|
5.62975e-05
|
|
|
BLM
|
[NCBI]
|
5.62163e-05
|
|
|
complement component 2 deficiency
|
[NCBI]
|
5.61036e-05
|
|
|
VUR1
|
[NCBI]
|
5.57031e-05
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
5.57031e-05
|
|
|
HOXD13
|
[NCBI]
|
5.48919e-05
|
|
|
GNRH1
|
[NCBI]
|
5.48516e-05
|
|
|
BCPM
|
[NCBI]
|
5.47867e-05
|
|
|
FXN
|
[NCBI]
|
5.4486e-05
|
|
|
PD
|
[NCBI]
|
5.41355e-05
|
|
|
SLC4A1
|
[NCBI]
|
5.38504e-05
|
|
|
wilson disease
|
[NCBI]
|
5.38446e-05
|
|
|
OTC
|
[NCBI]
|
5.30766e-05
|
|
|
PTK2
|
[NCBI]
|
5.24957e-05
|
|
|
PGM1
|
[NCBI]
|
5.23941e-05
|
|
|
TPI1
|
[NCBI]
|
5.2369e-05
|
|
|
PMM2
|
[NCBI]
|
5.22899e-05
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
5.17965e-05
|
|
|
EPD
|
[NCBI]
|
5.17965e-05
|
|
|
EVR2
|
[NCBI]
|
5.17965e-05
|
|
|
myopathy, myosin storage
|
[NCBI]
|
5.17965e-05
|
|
|
mal de meleda
|
[NCBI]
|
5.17965e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3
|
[NCBI]
|
5.17965e-05
|
|
|
creatine deficiency syndrome, x-linked
|
[NCBI]
|
5.17965e-05
|
|
|
LADD
|
[NCBI]
|
5.17965e-05
|
|
|
galactosemia
|
[NCBI]
|
5.17038e-05
|
|
|
KAL2
|
[NCBI]
|
5.14158e-05
|
|
|
GEFS+
|
[NCBI]
|
5.14158e-05
|
|
|
TRAPPC2
|
[NCBI]
|
5.10006e-05
|
|
|
TNFRSF11B
|
[NCBI]
|
5.07839e-05
|
|
|
MOCS1
|
[NCBI]
|
5.04738e-05
|
|
|
HBD
|
[NCBI]
|
5.04292e-05
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
5.02216e-05
|
|
|
breast cancer-related regulator of tp53
|
[NCBI]
|
4.9963e-05
|
|
|
GNAS
|
[NCBI]
|
4.99027e-05
|
|
|
PARK8
|
[NCBI]
|
4.87175e-05
|
|
|
maple syrup urine disease
|
[NCBI]
|
4.86886e-05
|
|
|
CCM
|
[NCBI]
|
4.86886e-05
|
|
|
HHF2
|
[NCBI]
|
4.86886e-05
|
|
|
AN2
|
[NCBI]
|
4.86886e-05
|
|
|
SHBG
|
[NCBI]
|
4.84035e-05
|
|
|
HEXB
|
[NCBI]
|
4.8285e-05
|
|
|
POLG
|
[NCBI]
|
4.75335e-05
|
|
|
BMPR2
|
[NCBI]
|
4.74824e-05
|
|
|
osteogenic sarcoma
|
[NCBI]
|
4.70633e-05
|
|
|
CMH4
|
[NCBI]
|
4.70633e-05
|
|
|
CLPED1
|
[NCBI]
|
4.70633e-05
|
|
|
hexokinase deficiency hemolytic anemia
|
[NCBI]
|
4.70633e-05
|
|
|
SYM1
|
[NCBI]
|
4.70633e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, lethal neonatal
|
[NCBI]
|
4.70633e-05
|
|
|
dyskeratosis congenita, autosomal dominant
|
[NCBI]
|
4.70633e-05
|
|
|
CADASIL
|
[NCBI]
|
4.70142e-05
|
|
|
FGFR3
|
[NCBI]
|
4.64082e-05
|
|
|
osteogenesis imperfecta, type iii
|
[NCBI]
|
4.61962e-05
|
|
|
ATRX
|
[NCBI]
|
4.60879e-05
|
|
|
ARPKD
|
[NCBI]
|
4.58517e-05
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
4.58517e-05
|
|
|
PROS1
|
[NCBI]
|
4.57741e-05
|
|
|
CREBBP
|
[NCBI]
|
4.5392e-05
|
|
|
COL1A2
|
[NCBI]
|
4.52804e-05
|
|
|
malaria, susceptibility to
|
[NCBI]
|
4.52682e-05
|
|
|
CMTX1
|
[NCBI]
|
4.52682e-05
|
|
|
vitamin d-dependent rickets, type ii
|
[NCBI]
|
4.52682e-05
|
|
|
kartagener syndrome
|
[NCBI]
|
4.52682e-05
|
|
|
HSCR1
|
[NCBI]
|
4.52021e-05
|
|
|
MSH6
|
[NCBI]
|
4.48356e-05
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
4.39316e-05
|
|
|
MEFV
|
[NCBI]
|
4.39316e-05
|
|
|
GHR
|
[NCBI]
|
4.39171e-05
|
|
|
PPH1
|
[NCBI]
|
4.38341e-05
|
|
|
LFS1
|
[NCBI]
|
4.35918e-05
|
|
|
sialuria
|
[NCBI]
|
4.29713e-05
|
|
|
aspermiogenesis factor
|
[NCBI]
|
4.29713e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
4.29713e-05
|
|
|
SXI1
|
[NCBI]
|
4.29713e-05
|
|
|
hepatitis b virus, susceptibility to
|
[NCBI]
|
4.29713e-05
|
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
[NCBI]
|
4.29713e-05
|
|
|
POU1F1
|
[NCBI]
|
4.2218e-05
|
|
|
F13A1
|
[NCBI]
|
4.21534e-05
|
|
|
cholesteryl ester transfer protein deficiency
|
[NCBI]
|
4.1886e-05
|
|
|
filaminopathy, autosomal dominant
|
[NCBI]
|
4.1886e-05
|
|
|
fibromuscular dysplasia of arteries
|
[NCBI]
|
4.1886e-05
|
|
|
diabetes mellitus, transient neonatal, 2
|
[NCBI]
|
4.1886e-05
|
|
|
schizencephaly
|
[NCBI]
|
4.1886e-05
|
|
|
orotic aciduria ii
|
[NCBI]
|
4.1886e-05
|
|
|
aarskog syndrome
|
[NCBI]
|
4.1886e-05
|
|
|
deafness, congenital, with total albinism
|
[NCBI]
|
4.1886e-05
|
|
|
dermal ridges, nelson syndrome
|
[NCBI]
|
4.1886e-05
|
|
|
glycogen storage disease of heart, lethal congenital
|
[NCBI]
|
4.1886e-05
|
|
|
corpus callosum, agenesis of, with abnormal genitalia
|
[NCBI]
|
4.1886e-05
|
|
|
mcdonough syndrome
|
[NCBI]
|
4.1886e-05
|
|
|
SHEP4
|
[NCBI]
|
4.1886e-05
|
|
|
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
|
[NCBI]
|
4.1886e-05
|
|
|
AOIII
|
[NCBI]
|
4.1886e-05
|
|
|
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
|
[NCBI]
|
4.1886e-05
|
|
|
anal sphincter myopathy, internal
|
[NCBI]
|
4.1886e-05
|
|
|
HMPS2
|
[NCBI]
|
4.1886e-05
|
|
|
bronchiectasis
|
[NCBI]
|
4.1886e-05
|
|
|
3-@hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
4.1886e-05
|
|
|
ehlers-danlos syndrome, autosomal recessive, cardiac valvular form
|
[NCBI]
|
4.1886e-05
|
|
|
chromosome 18 pericentric inversion
|
[NCBI]
|
4.1886e-05
|
|
|
SCA16
|
[NCBI]
|
4.1886e-05
|
|
|
glycinuria with or without oxalate urolithiasis
|
[NCBI]
|
4.1886e-05
|
|
|
uric acid nephrolithiasis, susceptibility to
|
[NCBI]
|
4.1886e-05
|
|
|
MCOPS5
|
[NCBI]
|
4.1886e-05
|
|
|
sjogren-larsson-like ichthyosis without cns or eye involvement
|
[NCBI]
|
4.1886e-05
|
|
|
deafness, autosomal recessive
|
[NCBI]
|
4.1886e-05
|
|
|
LFS2
|
[NCBI]
|
4.1886e-05
|
|
|
chands
|
[NCBI]
|
4.1886e-05
|
|
|
mental retardation, x-linked, with brachydactyly and macroglossia
|
[NCBI]
|
4.1886e-05
|
|
|
MODY6
|
[NCBI]
|
4.1886e-05
|
|
|
CC
|
[NCBI]
|
4.1886e-05
|
|
|
muscular dystrophy, scapulohumeral
|
[NCBI]
|
4.1886e-05
|
|
|
charcot-marie-tooth disease, dominant intermediate c
|
[NCBI]
|
4.1886e-05
|
|
|
epidermolysis bullosa simplex with migratory circinate erythema
|
[NCBI]
|
4.1886e-05
|
|
|
AME2
|
[NCBI]
|
4.1886e-05
|
|
|
ADRB3
|
[NCBI]
|
4.1829e-05
|
|
|
FGA
|
[NCBI]
|
4.16329e-05
|
|
|
glycogen storage disease iii
|
[NCBI]
|
4.1616e-05
|
|
|
DRD
|
[NCBI]
|
4.1616e-05
|
|
|
TGD
|
[NCBI]
|
4.1616e-05
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
4.1616e-05
|
|
|
AIRE
|
[NCBI]
|
4.15013e-05
|
|
|
HD
|
[NCBI]
|
4.08872e-05
|
|
|
GALK1
|
[NCBI]
|
4.06272e-05
|
|
|
hashimoto thyroiditis
|
[NCBI]
|
4.05868e-05
|
|
|
ADCYAP1
|
[NCBI]
|
4.03591e-05
|
|
|
MAFD6
|
[NCBI]
|
4.01871e-05
|
|
|
AHO
|
[NCBI]
|
4.00701e-05
|
|
|
NDP
|
[NCBI]
|
3.98565e-05
|
|
|
HR
|
[NCBI]
|
3.94922e-05
|
|
|
CPT2
|
[NCBI]
|
3.94922e-05
|
|
|
LQT1
|
[NCBI]
|
3.94504e-05
|
|
|
MCOPS3
|
[NCBI]
|
3.93833e-05
|
|
|
SLSN1
|
[NCBI]
|
3.93833e-05
|
|
|
BDC
|
[NCBI]
|
3.93833e-05
|
|
|
feingold syndrome
|
[NCBI]
|
3.93833e-05
|
|
|
IDUA
|
[NCBI]
|
3.93394e-05
|
|
|
GNRHR
|
[NCBI]
|
3.92607e-05
|
|
|
ATP8B1
|
[NCBI]
|
3.92336e-05
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
3.91187e-05
|
|
|
lymphocyte cytosol polypeptide, 20-kd
|
[NCBI]
|
3.86923e-05
|
|
|
actin-binding protein, 34-kd
|
[NCBI]
|
3.86923e-05
|
|
|
INSR
|
[NCBI]
|
3.85318e-05
|
|
|
LCAT
|
[NCBI]
|
3.84558e-05
|
|
|
ATP2A2
|
[NCBI]
|
3.84173e-05
|
|
|
PLOD1
|
[NCBI]
|
3.84173e-05
|
|
|
CHEK2
|
[NCBI]
|
3.84033e-05
|
|
|
wolman disease
|
[NCBI]
|
3.84033e-05
|
|
|
TS
|
[NCBI]
|
3.81196e-05
|
|
|
APC
|
[NCBI]
|
3.80072e-05
|
|
|
SEDC
|
[NCBI]
|
3.75607e-05
|
|
|
OCRL
|
[NCBI]
|
3.75607e-05
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
3.75607e-05
|
|
|
DLD
|
[NCBI]
|
3.73969e-05
|
|
|
NR3C2
|
[NCBI]
|
3.73969e-05
|
|
|
NODAL
|
[NCBI]
|
3.73196e-05
|
|
|
PKD2
|
[NCBI]
|
3.71552e-05
|
|
|
STK11
|
[NCBI]
|
3.70353e-05
|
|
|
MAFD1
|
[NCBI]
|
3.65797e-05
|
|
|
CDH23
|
[NCBI]
|
3.64262e-05
|
|
|
PINK1
|
[NCBI]
|
3.64262e-05
|
|
|
ALPS
|
[NCBI]
|
3.62186e-05
|
|
|
CYLD
|
[NCBI]
|
3.62023e-05
|
|
|
HPE2
|
[NCBI]
|
3.62023e-05
|
|
|
hyperlipoproteinemia, type ii
|
[NCBI]
|
3.62023e-05
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
3.62023e-05
|
|
|
SMDP1
|
[NCBI]
|
3.62023e-05
|
|
|
SEDT
|
[NCBI]
|
3.62023e-05
|
|
|
acheiropody
|
[NCBI]
|
3.62023e-05
|
|
|
SPTA1
|
[NCBI]
|
3.61636e-05
|
|
|
LS
|
[NCBI]
|
3.61634e-05
|
|
|
LCA1
|
[NCBI]
|
3.57022e-05
|
|
|
UGT1A1
|
[NCBI]
|
3.56819e-05
|
|
|
SLC7A9
|
[NCBI]
|
3.56096e-05
|
|
|
SRD5A2
|
[NCBI]
|
3.55008e-05
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
3.48633e-05
|
|
|
PAX2
|
[NCBI]
|
3.46171e-05
|
|
|
CYP17A1
|
[NCBI]
|
3.4522e-05
|
|
|
SMN1
|
[NCBI]
|
3.44902e-05
|
|
|
GCCR
|
[NCBI]
|
3.42897e-05
|
|
|
MEG3
|
[NCBI]
|
3.40656e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
3.39351e-05
|
|
|
HEMB
|
[NCBI]
|
3.39071e-05
|
|
|
PKD1
|
[NCBI]
|
3.38343e-05
|
|
|
GCK
|
[NCBI]
|
3.37592e-05
|
|
|
MPZ
|
[NCBI]
|
3.37592e-05
|
|
|
MEN1
|
[NCBI]
|
3.37592e-05
|
|
|
adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
|
[NCBI]
|
3.33565e-05
|
|
|
thiopurine s-methyltransferase deficiency
|
[NCBI]
|
3.33565e-05
|
|
|
monilethrix
|
[NCBI]
|
3.33565e-05
|
|
|
ED2
|
[NCBI]
|
3.33565e-05
|
|
|
NM
|
[NCBI]
|
3.33565e-05
|
|
|
OPD1
|
[NCBI]
|
3.33565e-05
|
|
|
papillorenal syndrome
|
[NCBI]
|
3.33565e-05
|
|
|
septooptic dysplasia
|
[NCBI]
|
3.33565e-05
|
|
|
DYT1
|
[NCBI]
|
3.29618e-05
|
|
|
MEN2A
|
[NCBI]
|
3.28764e-05
|
|
|
factor x deficiency
|
[NCBI]
|
3.28058e-05
|
|
|
TSC1
|
[NCBI]
|
3.28058e-05
|
|
|
MCOLN1
|
[NCBI]
|
3.26595e-05
|
|
|
MUC1
|
[NCBI]
|
3.25441e-05
|
|
|
AOS
|
[NCBI]
|
3.24727e-05
|
|
|
PPSH
|
[NCBI]
|
3.22792e-05
|
|
|
SCIDX1
|
[NCBI]
|
3.22747e-05
|
|
|
HBG2
|
[NCBI]
|
3.22622e-05
|
|
|
COL7A1
|
[NCBI]
|
3.22622e-05
|
|
|
NOG
|
[NCBI]
|
3.21848e-05
|
|
|
IGF2R
|
[NCBI]
|
3.21848e-05
|
|
|
TSC2
|
[NCBI]
|
3.21307e-05
|
|
|
CIDX
|
[NCBI]
|
3.20527e-05
|
|
|
DFNB21
|
[NCBI]
|
3.20527e-05
|
|
|
PFIC3
|
[NCBI]
|
3.20527e-05
|
|
|
CSNBAD2
|
[NCBI]
|
3.20527e-05
|
|
|
insulin-like growth factor i, resistance to
|
[NCBI]
|
3.20527e-05
|
|
|
phosphoglycerate dehydrogenase deficiency
|
[NCBI]
|
3.20527e-05
|
|
|
MRX63
|
[NCBI]
|
3.20527e-05
|
|
|
CLN10
|
[NCBI]
|
3.20527e-05
|
|
|
PEOA4
|
[NCBI]
|
3.20527e-05
|
|
|
MADB
|
[NCBI]
|
3.20527e-05
|
|
|
ehlers-danlos-like syndrome due to tenascin-x deficiency
|
[NCBI]
|
3.20527e-05
|
|
|
CMD1P
|
[NCBI]
|
3.20527e-05
|
|
|
stapes ankylosis with broad thumb and toes
|
[NCBI]
|
3.20527e-05
|
|
|
polydactyly
|
[NCBI]
|
3.20527e-05
|
|
|
arcus corneae
|
[NCBI]
|
3.20527e-05
|
|
|
moved to 310600
|
[NCBI]
|
3.20527e-05
|
|
|
FEB8
|
[NCBI]
|
3.20527e-05
|
|
|
spherocytosis, autosomal recessive
|
[NCBI]
|
3.20527e-05
|
|
|
MRX46
|
[NCBI]
|
3.20527e-05
|
|
|
egasyn
|
[NCBI]
|
3.20527e-05
|
|
|
ovarian hyperstimulation syndrome
|
[NCBI]
|
3.20527e-05
|
|
|
ARTS
|
[NCBI]
|
3.20527e-05
|
|
|
abdominal body fat distribution
|
[NCBI]
|
3.20527e-05
|
|
|
chondrosarcoma
|
[NCBI]
|
3.20527e-05
|
|
|
ACFD
|
[NCBI]
|
3.20527e-05
|
|
|
SPS
|
[NCBI]
|
3.20527e-05
|
|
|
bernard-soulier syndrome, benign autosomal dominant
|
[NCBI]
|
3.20527e-05
|
|
|
EDMD3
|
[NCBI]
|
3.20527e-05
|
|
|
preaxial deficiency, postaxial polydactyly, and hypospadias
|
[NCBI]
|
3.20527e-05
|
|
|
ovarian teratoma
|
[NCBI]
|
3.20527e-05
|
|
|
CVT
|
[NCBI]
|
3.20527e-05
|
|
|
HANAC
|
[NCBI]
|
3.20527e-05
|
|
|
thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
|
[NCBI]
|
3.20527e-05
|
|
|
hepatitis b vaccine, response to
|
[NCBI]
|
3.20527e-05
|
|
|
parotid proline-rich salivary protein pc
|
[NCBI]
|
3.20527e-05
|
|
|
NS4
|
[NCBI]
|
3.20527e-05
|
|
|
LAM
|
[NCBI]
|
3.1502e-05
|
|
|
LMNA
|
[NCBI]
|
3.10221e-05
|
|
|
IL2
|
[NCBI]
|
3.0953e-05
|
|
|
CORDX1
|
[NCBI]
|
3.0792e-05
|
|
|
JME
|
[NCBI]
|
3.0792e-05
|
|
|
BHD
|
[NCBI]
|
3.0792e-05
|
|
|
diabetes insipidus, nephrogenic, autosomal
|
[NCBI]
|
3.0792e-05
|
|
|
tetralogy of fallot
|
[NCBI]
|
3.0792e-05
|
|
|
OPD2
|
[NCBI]
|
3.0792e-05
|
|
|
asplenia with cardiovascular anomalies
|
[NCBI]
|
3.0792e-05
|
|
|
NPC1
|
[NCBI]
|
3.07201e-05
|
|
|
COL4A5
|
[NCBI]
|
3.07201e-05
|
|
|
KCNJ11
|
[NCBI]
|
3.07201e-05
|
|
|
HS
|
[NCBI]
|
3.07085e-05
|
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i
|
[NCBI]
|
3.07e-05
|
|
|
MLH1
|
[NCBI]
|
3.05327e-05
|
|
|
EVC
|
[NCBI]
|
3.02128e-05
|
|
|
MYBPC3
|
[NCBI]
|
3.01792e-05
|
|
|
APOA1
|
[NCBI]
|
3.01495e-05
|
|
|
IP
|
[NCBI]
|
3.01241e-05
|
|
|
SLC40A1
|
[NCBI]
|
3.00286e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
3.00286e-05
|
|
|
NPS
|
[NCBI]
|
2.99275e-05
|
|
|
MC1R
|
[NCBI]
|
2.94486e-05
|
|
|
TSHR
|
[NCBI]
|
2.94016e-05
|
|
|
LHCGR
|
[NCBI]
|
2.92602e-05
|
|
|
KSS
|
[NCBI]
|
2.90896e-05
|
|
|
ATP1A2
|
[NCBI]
|
2.90749e-05
|
|
|
menkes disease
|
[NCBI]
|
2.90566e-05
|
|
|
restless legs syndrome, susceptibility to, 1
|
[NCBI]
|
2.8909e-05
|
|
|
myeloproliferative syndrome, transient
|
[NCBI]
|
2.8909e-05
|
|
|
MSH2
|
[NCBI]
|
2.87988e-05
|
|
|
CYP1A1
|
[NCBI]
|
2.8739e-05
|
|
|
SOX10
|
[NCBI]
|
2.87186e-05
|
|
|
propionic acidemia
|
[NCBI]
|
2.84667e-05
|
|
|
HPE3
|
[NCBI]
|
2.84667e-05
|
|
|
danon disease
|
[NCBI]
|
2.84667e-05
|
|
|
anemia, sideroblastic, x-linked
|
[NCBI]
|
2.80973e-05
|
|
|
orotic aciduria i
|
[NCBI]
|
2.80456e-05
|
|
|
RNASEL
|
[NCBI]
|
2.80456e-05
|
|
|
RAD51
|
[NCBI]
|
2.80456e-05
|
|
|
PRNP
|
[NCBI]
|
2.76688e-05
|
|
|
ALG6
|
[NCBI]
|
2.76015e-05
|
|
|
CSHL1
|
[NCBI]
|
2.76015e-05
|
|
|
HK3
|
[NCBI]
|
2.76015e-05
|
|
|
ACH
|
[NCBI]
|
2.74004e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
2.74002e-05
|
|
|
SURF1
|
[NCBI]
|
2.70826e-05
|
|
|
MYO7A
|
[NCBI]
|
2.69154e-05
|
|
|
MBL2
|
[NCBI]
|
2.66525e-05
|
|
|
CVID
|
[NCBI]
|
2.64527e-05
|
|
|
PSACH
|
[NCBI]
|
2.64481e-05
|
|
|
SGBS1
|
[NCBI]
|
2.64197e-05
|
|
|
DJS
|
[NCBI]
|
2.64197e-05
|
|
|
PARK6
|
[NCBI]
|
2.63474e-05
|
|
|
SLC6A8
|
[NCBI]
|
2.61784e-05
|
|
|
MUTYH
|
[NCBI]
|
2.61784e-05
|
|
|
HADHA
|
[NCBI]
|
2.61784e-05
|
|
|
PCCB
|
[NCBI]
|
2.61784e-05
|
|
|
HAE III
|
[NCBI]
|
2.58948e-05
|
|
|
CAMT
|
[NCBI]
|
2.58948e-05
|
|
|
ARMD2
|
[NCBI]
|
2.58948e-05
|
|
|
HHF4
|
[NCBI]
|
2.58948e-05
|
|
|
TBDN
|
[NCBI]
|
2.58948e-05
|
|
|
epidermolysis bullosa simplex, ogna type
|
[NCBI]
|
2.58948e-05
|
|
|
RP18
|
[NCBI]
|
2.58948e-05
|
|
|
immunodeficiency with hyper-igm, type 2
|
[NCBI]
|
2.58948e-05
|
|
|
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
|
[NCBI]
|
2.58948e-05
|
|
|
heterotaxy, visceral, 2, autosomal
|
[NCBI]
|
2.58948e-05
|
|
|
bleeding disorder due to p2ry12 defect
|
[NCBI]
|
2.58948e-05
|
|
|
CORDX3
|
[NCBI]
|
2.58948e-05
|
|
|
2-@methylbutyryl-coa dehydrogenase deficiency
|
[NCBI]
|
2.58948e-05
|
|
|
RP19
|
[NCBI]
|
2.58948e-05
|
|
|
hydroxyprolinemia
|
[NCBI]
|
2.58948e-05
|
|
|
fecundity gene, booroola, of sheep, homolog of
|
[NCBI]
|
2.58948e-05
|
|
|
platelet disorder, familial, with associated myeloid malignancy
|
[NCBI]
|
2.58948e-05
|
|
|
ACG1B
|
[NCBI]
|
2.58948e-05
|
|
|
CSNBAD1
|
[NCBI]
|
2.58948e-05
|
|
|
cardiac arrhythmia, ankyrin-b-related
|
[NCBI]
|
2.58948e-05
|
|
|
syndactyly, type iii
|
[NCBI]
|
2.58948e-05
|
|
|
PRD
|
[NCBI]
|
2.58948e-05
|
|
|
complement component 4, partial deficiency of
|
[NCBI]
|
2.58948e-05
|
|
|
oncocytoma
|
[NCBI]
|
2.58948e-05
|
|
|
dyserythropoietic anemia with thrombocytopenia
|
[NCBI]
|
2.58948e-05
|
|
|
simpson-golabi-behmel syndrome, type 2
|
[NCBI]
|
2.58948e-05
|
|
|
acyl-coa dehydrogenase, long-chain, deficiency of
|
[NCBI]
|
2.58948e-05
|
|
|
CSB
|
[NCBI]
|
2.58948e-05
|
|
|
mevalonic aciduria
|
[NCBI]
|
2.58948e-05
|
|
|
proprotein convertase 1 deficiency
|
[NCBI]
|
2.58948e-05
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
2.58314e-05
|
|
|
ADRB2
|
[NCBI]
|
2.58073e-05
|
|
|
GBA
|
[NCBI]
|
2.5679e-05
|
|
|
HLA-A
|
[NCBI]
|
2.5679e-05
|
|
|
WT1
|
[NCBI]
|
2.56123e-05
|
|
|
ADD2
|
[NCBI]
|
2.54973e-05
|
|
|
HRPT2
|
[NCBI]
|
2.54973e-05
|
|
|
P2RY12
|
[NCBI]
|
2.54973e-05
|
|
|
chromosome 17q21.31 microdeletion syndrome
|
[NCBI]
|
2.54973e-05
|
|
|
NDUFS8
|
[NCBI]
|
2.54973e-05
|
|
|
CA2
|
[NCBI]
|
2.53268e-05
|
|
|
PHOX2B
|
[NCBI]
|
2.53268e-05
|
|
|
RHCE
|
[NCBI]
|
2.52785e-05
|
|
|
TPMT
|
[NCBI]
|
2.52587e-05
|
|
|
LGMD2A
|
[NCBI]
|
2.51286e-05
|
|
|
glycogen storage disease vii
|
[NCBI]
|
2.51286e-05
|
|
|
PGL1
|
[NCBI]
|
2.51286e-05
|
|
|
PARK2
|
[NCBI]
|
2.51286e-05
|
|
|
P2RY8
|
[NCBI]
|
2.49807e-05
|
|
|
IZUMO1
|
[NCBI]
|
2.49807e-05
|
|
|
kiaa2022
|
[NCBI]
|
2.49807e-05
|
|
|
complement component c1q, fibroblast type
|
[NCBI]
|
2.49807e-05
|
|
|
ras-related on chromosome 22
|
[NCBI]
|
2.49807e-05
|
|
|
mental retardation, x-linked, south african type
|
[NCBI]
|
2.49807e-05
|
|
|
OR1F1
|
[NCBI]
|
2.49807e-05
|
|
|
MOSPD3
|
[NCBI]
|
2.49807e-05
|
|
|
SOHLH1
|
[NCBI]
|
2.49807e-05
|
|
|
MOSPD1
|
[NCBI]
|
2.49807e-05
|
|
|
FFI
|
[NCBI]
|
2.49179e-05
|
|
|
lynch syndrome i
|
[NCBI]
|
2.48203e-05
|
|
|
FY
|
[NCBI]
|
2.47654e-05
|
|
|
PPARA
|
[NCBI]
|
2.46878e-05
|
|
|
PYGM
|
[NCBI]
|
2.45225e-05
|
|
|
acromegaly
|
[NCBI]
|
2.44075e-05
|
|
|
PHA
|
[NCBI]
|
2.44075e-05
|
|
|
OPTB3
|
[NCBI]
|
2.44075e-05
|
|
|
HPC1
|
[NCBI]
|
2.44075e-05
|
|
|
SPG2
|
[NCBI]
|
2.44075e-05
|
|
|
protoporphyria, erythropoietic
|
[NCBI]
|
2.42673e-05
|
|
|
breast cancer
|
[NCBI]
|
2.40379e-05
|
|
|
HCH
|
[NCBI]
|
2.38984e-05
|
|
|
ED1
|
[NCBI]
|
2.37875e-05
|
|
|
ABCA4
|
[NCBI]
|
2.37833e-05
|
|
|
SLC5A5
|
[NCBI]
|
2.37609e-05
|
|
|
ATOH1
|
[NCBI]
|
2.37383e-05
|
|
|
NR5A1
|
[NCBI]
|
2.36003e-05
|
|
|
XDH
|
[NCBI]
|
2.34378e-05
|
|
|
PMP22
|
[NCBI]
|
2.33063e-05
|
|
|
SDHD
|
[NCBI]
|
2.30382e-05
|
|
|
PAX3
|
[NCBI]
|
2.29111e-05
|
|
|
VWS
|
[NCBI]
|
2.288e-05
|
|
|
HIGM1
|
[NCBI]
|
2.27252e-05
|
|
|
OCA2
|
[NCBI]
|
2.27252e-05
|
|
|
meningioma, familial
|
[NCBI]
|
2.27252e-05
|
|
|
PTHLH
|
[NCBI]
|
2.27237e-05
|
|
|
glycogen storage disease iv
|
[NCBI]
|
2.26249e-05
|
|
|
FBS
|
[NCBI]
|
2.26249e-05
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
2.26249e-05
|
|
|
EAOH
|
[NCBI]
|
2.26249e-05
|
|
|
MSX1
|
[NCBI]
|
2.23509e-05
|
|
|
LHB
|
[NCBI]
|
2.23509e-05
|
|
|
PEPB
|
[NCBI]
|
2.22298e-05
|
|
|
DYNC1H1
|
[NCBI]
|
2.22298e-05
|
|
|
PRH2
|
[NCBI]
|
2.22298e-05
|
|
|
MAF
|
[NCBI]
|
2.22298e-05
|
|
|
hemojuvelin
|
[NCBI]
|
2.22298e-05
|
|
|
SLC34A1
|
[NCBI]
|
2.22298e-05
|
|
|
SLC3A1
|
[NCBI]
|
2.1696e-05
|
|
|
AS
|
[NCBI]
|
2.16941e-05
|
|
|
SMA3
|
[NCBI]
|
2.16056e-05
|
|
|
GCPS
|
[NCBI]
|
2.16056e-05
|
|
|
CLN3
|
[NCBI]
|
2.16056e-05
|
|
|
TNFRSF6
|
[NCBI]
|
2.15544e-05
|
|
|
hyperprolinemia, type ii
|
[NCBI]
|
2.14824e-05
|
|
|
PCWH
|
[NCBI]
|
2.14824e-05
|
|
|
ALSG
|
[NCBI]
|
2.14824e-05
|
|
|
MRX21
|
[NCBI]
|
2.14824e-05
|
|
|
anderson disease
|
[NCBI]
|
2.14824e-05
|
|
|
glycogen storage disease 0, muscle
|
[NCBI]
|
2.14824e-05
|
|
|
RP7
|
[NCBI]
|
2.14824e-05
|
|
|
thrombophilia due to deficiency of activated protein c cofactor
|
[NCBI]
|
2.14824e-05
|
|
|
PFM2
|
[NCBI]
|
2.14824e-05
|
|
|
OUBR
|
[NCBI]
|
2.14824e-05
|
|
|
witkop syndrome
|
[NCBI]
|
2.14824e-05
|
|
|
epidermolysis bullosa of hands and feet
|
[NCBI]
|
2.14824e-05
|
|
|
young syndrome
|
[NCBI]
|
2.14824e-05
|
|
|
DFNB2
|
[NCBI]
|
2.14824e-05
|
|
|
cystinosis, adult nonnephropathic
|
[NCBI]
|
2.14824e-05
|
|
|
recombinant chromosome 8 syndrome
|
[NCBI]
|
2.14824e-05
|
|
|
beta thalassemia, dominant inclusion body type
|
[NCBI]
|
2.14824e-05
|
|
|
enterokinase deficiency
|
[NCBI]
|
2.14824e-05
|
|
|
AH
|
[NCBI]
|
2.14824e-05
|
|
|
dentinogenesis imperfecta, shields type iii
|
[NCBI]
|
2.14824e-05
|
|
|
JAE
|
[NCBI]
|
2.14824e-05
|
|
|
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance
|
[NCBI]
|
2.14824e-05
|
|
|
anemia, hypochromic microcytic
|
[NCBI]
|
2.14824e-05
|
|
|
retinitis pigmentosa, x-linked, with recurrent respiratory infections
|
[NCBI]
|
2.14824e-05
|
|
|
keratosis palmoplantaris striata i
|
[NCBI]
|
2.14824e-05
|
|
|
white sponge nevus of cannon
|
[NCBI]
|
2.14824e-05
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
2.14824e-05
|
|
|
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
|
[NCBI]
|
2.14824e-05
|
|
|
ovarian cancer, epithelial
|
[NCBI]
|
2.14824e-05
|
|
|
PC2
|
[NCBI]
|
2.14824e-05
|
|
|
AVSD2
|
[NCBI]
|
2.14824e-05
|
|
|
melorheostosis
|
[NCBI]
|
2.14824e-05
|
|
|
melanoma-pancreatic cancer syndrome
|
[NCBI]
|
2.14824e-05
|
|
|
hawkinsinuria
|
[NCBI]
|
2.14824e-05
|
|
|
PDB1
|
[NCBI]
|
2.14824e-05
|
|
|
renal tubular acidosis, distal, with hemolytic anemia
|
[NCBI]
|
2.14824e-05
|
|
|
NS1
|
[NCBI]
|
2.11048e-05
|
|
|
EXT1
|
[NCBI]
|
2.10711e-05
|
|
|
IL2RG
|
[NCBI]
|
2.10711e-05
|
|
|
NRAS
|
[NCBI]
|
2.10711e-05
|
|
|
GALC
|
[NCBI]
|
2.10711e-05
|
|
|
XIST
|
[NCBI]
|
2.09864e-05
|
|
|
PARK2
|
[NCBI]
|
2.09864e-05
|
|
|
IBM2
|
[NCBI]
|
2.09818e-05
|
|
|
AIED
|
[NCBI]
|
2.09818e-05
|
|
|
ESCS
|
[NCBI]
|
2.09818e-05
|
|
|
KRTHB6
|
[NCBI]
|
2.09117e-05
|
|
|
LMBR1
|
[NCBI]
|
2.09117e-05
|
|
|
SFN
|
[NCBI]
|
2.09117e-05
|
|
|
WAS
|
[NCBI]
|
2.07419e-05
|
|
|
ADHD
|
[NCBI]
|
2.07383e-05
|
|
|
OCA1A
|
[NCBI]
|
2.05367e-05
|
|
|
CDG1A
|
[NCBI]
|
2.05367e-05
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
2.0418e-05
|
|
|
PTCH1
|
[NCBI]
|
1.99019e-05
|
|
|
ITGA2B
|
[NCBI]
|
1.99019e-05
|
|
|
IFNGR1
|
[NCBI]
|
1.99019e-05
|
|
|
DBA
|
[NCBI]
|
1.98479e-05
|
|
|
FOXF1
|
[NCBI]
|
1.97433e-05
|
|
|
ZMPSTE24
|
[NCBI]
|
1.97433e-05
|
|
|
SLC17A5
|
[NCBI]
|
1.97433e-05
|
|
|
PEPC
|
[NCBI]
|
1.97433e-05
|
|
|
INHA
|
[NCBI]
|
1.97433e-05
|
|
|
HESX1
|
[NCBI]
|
1.97433e-05
|
|
|
PKP1
|
[NCBI]
|
1.97433e-05
|
|
|
CYP27A1
|
[NCBI]
|
1.97433e-05
|
|
|
ATP2B2
|
[NCBI]
|
1.97433e-05
|
|
|
GSS
|
[NCBI]
|
1.97433e-05
|
|
|
HADH
|
[NCBI]
|
1.97433e-05
|
|
|
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
|
[NCBI]
|
1.95157e-05
|
|
|
porphyria, congenital erythropoietic
|
[NCBI]
|
1.94629e-05
|
|
|