|
OMIM |
Link |
Information gain |
01 |
|
PNPLA6
|
[NCBI]
|
0.00122772
|
|
|
visceral neuropathy, familial, autosomal recessive
|
[NCBI]
|
0.00116474
|
|
|
TTR
|
[NCBI]
|
0.00109335
|
|
|
corneal hypesthesia, familial
|
[NCBI]
|
0.000734606
|
|
|
RA
|
[NCBI]
|
0.000645998
|
|
|
DRPLA
|
[NCBI]
|
0.000642006
|
|
|
spinal muscular atrophy, facioscapulohumeral type
|
[NCBI]
|
0.000599634
|
|
|
visceral neuropathy, familial, autosomal dominant
|
[NCBI]
|
0.000599634
|
|
|
neuropathy, hereditary motor and sensory, okinawa type
|
[NCBI]
|
0.000599634
|
|
|
carnosinemia
|
[NCBI]
|
0.000560268
|
|
|
GSM1
|
[NCBI]
|
0.000560268
|
|
|
trichorrhexis nodosa syndrome
|
[NCBI]
|
0.000528971
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.000503004
|
|
|
MBP
|
[NCBI]
|
0.000486383
|
|
|
SPG5A
|
[NCBI]
|
0.000461483
|
|
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
0.000444338
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
0.000444338
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
0.000402241
|
|
|
DYT2
|
[NCBI]
|
0.000390496
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
0.000388057
|
|
|
megaduodenum and/or megacystis
|
[NCBI]
|
0.000360016
|
|
|
CF
|
[NCBI]
|
0.000354021
|
|
|
CHAC
|
[NCBI]
|
0.000327234
|
|
|
IBGC1
|
[NCBI]
|
0.000320195
|
|
|
MAG
|
[NCBI]
|
0.000297474
|
|
|
chiari malformation type i
|
[NCBI]
|
0.000294809
|
|
|
GLRA1
|
[NCBI]
|
0.000290415
|
|
|
restless legs syndrome, susceptibility to, 1
|
[NCBI]
|
0.000273342
|
|
|
DRPLA
|
[NCBI]
|
0.000266699
|
|
|
APBD
|
[NCBI]
|
0.000262169
|
|
|
ACHE
|
[NCBI]
|
0.00024362
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.00023106
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
0.00022234
|
|
|
behcet syndrome
|
[NCBI]
|
0.000199197
|
|
|
VED
|
[NCBI]
|
0.000194329
|
|
|
l-2-hydroxyglutaric aciduria
|
[NCBI]
|
0.000178332
|
|
|
AAA
|
[NCBI]
|
0.000177906
|
|
|
amyloidosis vii
|
[NCBI]
|
0.000159856
|
|
|
GS2
|
[NCBI]
|
0.000155022
|
|
|
RAB27A
|
[NCBI]
|
0.000145006
|
|
|
osteopetrosis and infantile neuroaxonal dystrophy
|
[NCBI]
|
0.000144922
|
|
|
NGFB
|
[NCBI]
|
0.000142539
|
|
|
CSA
|
[NCBI]
|
0.000125381
|
|
|
wilson disease
|
[NCBI]
|
0.000116883
|
|
|
GAN1
|
[NCBI]
|
0.000116638
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
0.000115166
|
|
|
dystonia, familial, with visual failure and striatal lucencies
|
[NCBI]
|
0.000114182
|
|
|
3-@methylglutaconic aciduria, type iii
|
[NCBI]
|
0.000108275
|
|
|
NN
|
[NCBI]
|
0.000108275
|
|
|
VEGF
|
[NCBI]
|
0.000107597
|
|
|
SCN8A
|
[NCBI]
|
0.000107113
|
|
|
MSS
|
[NCBI]
|
0.000104445
|
|
|
EGF
|
[NCBI]
|
0.000104
|
|
|
methylcobalamin deficiency, cblg type
|
[NCBI]
|
9.90245e-05
|
|
|
GS1
|
[NCBI]
|
9.52595e-05
|
|
|
GLRB
|
[NCBI]
|
9.49809e-05
|
|
|
MTTV
|
[NCBI]
|
9.49809e-05
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
9.19024e-05
|
|
|
PTH
|
[NCBI]
|
9.10967e-05
|
|
|
polyneuropathy, mixed, of early onset
|
[NCBI]
|
8.78821e-05
|
|
|
ribose 5-phosphate isomerase deficiency
|
[NCBI]
|
8.78821e-05
|
|
|
cerebellar degeneration-related autoantigen 3
|
[NCBI]
|
8.78821e-05
|
|
|
metaphyseal modeling abnormality, skin lesions, and spastic paraplegia
|
[NCBI]
|
8.78821e-05
|
|
|
optic atrophy--spastic paraplegia syndrome
|
[NCBI]
|
8.78821e-05
|
|
|
SDSEM
|
[NCBI]
|
8.78821e-05
|
|
|
muscular hypertonia, lethal
|
[NCBI]
|
8.78821e-05
|
|
|
dysautonomia-like disorder
|
[NCBI]
|
8.78821e-05
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
8.61178e-05
|
|
|
EEA1
|
[NCBI]
|
8.05766e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
7.96225e-05
|
|
|
CHAT
|
[NCBI]
|
7.94711e-05
|
|
|
KLK3
|
[NCBI]
|
7.63232e-05
|
|
|
MPV17
|
[NCBI]
|
7.60954e-05
|
|
|
MG
|
[NCBI]
|
7.34602e-05
|
|
|
AUH
|
[NCBI]
|
7.24615e-05
|
|
|
CIPA
|
[NCBI]
|
7.16976e-05
|
|
|
NAGA
|
[NCBI]
|
6.94043e-05
|
|
|
SLE
|
[NCBI]
|
6.77941e-05
|
|
|
AAAS
|
[NCBI]
|
6.67657e-05
|
|
|
PMP22
|
[NCBI]
|
6.657e-05
|
|
|
pellagra-like syndrome
|
[NCBI]
|
6.54812e-05
|
|
|
MRXS10
|
[NCBI]
|
6.54812e-05
|
|
|
cataract-ataxia-deafness-retardation syndrome
|
[NCBI]
|
6.54812e-05
|
|
|
3-@methylglutaconic aciduria, type iv
|
[NCBI]
|
6.54812e-05
|
|
|
MYO5A
|
[NCBI]
|
6.44453e-05
|
|
|
SLS
|
[NCBI]
|
6.13372e-05
|
|
|
MOG
|
[NCBI]
|
6.05066e-05
|
|
|
RTT
|
[NCBI]
|
5.96709e-05
|
|
|
CEACAM5
|
[NCBI]
|
5.84423e-05
|
|
|
leopard syndrome 1
|
[NCBI]
|
5.76674e-05
|
|
|
GRIA2
|
[NCBI]
|
5.7242e-05
|
|
|
optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
|
[NCBI]
|
5.70707e-05
|
|
|
neuropathy, ataxia, and retinitis pigmentosa
|
[NCBI]
|
5.70707e-05
|
|
|
neuronal intestinal dysplasia, type b
|
[NCBI]
|
5.70707e-05
|
|
|
neuronal intranuclear inclusion disease
|
[NCBI]
|
5.70707e-05
|
|
|
ELAVL2
|
[NCBI]
|
5.69549e-05
|
|
|
UBQLN2
|
[NCBI]
|
5.69549e-05
|
|
|
SCNM1
|
[NCBI]
|
5.69549e-05
|
|
|
ATP6AP1
|
[NCBI]
|
5.69549e-05
|
|
|
VAMP1
|
[NCBI]
|
5.69549e-05
|
|
|
CANX
|
[NCBI]
|
5.69549e-05
|
|
|
RPIA
|
[NCBI]
|
5.69549e-05
|
|
|
r binder protein
|
[NCBI]
|
5.69549e-05
|
|
|
GARNL1
|
[NCBI]
|
5.69549e-05
|
|
|
HADHA
|
[NCBI]
|
5.57982e-05
|
|
|
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
|
[NCBI]
|
5.2184e-05
|
|
|
jumping frenchman of maine
|
[NCBI]
|
5.16341e-05
|
|
|
CMTX5
|
[NCBI]
|
5.16341e-05
|
|
|
haw river syndrome
|
[NCBI]
|
5.16341e-05
|
|
|
OPTB2
|
[NCBI]
|
4.76099e-05
|
|
|
MRX54
|
[NCBI]
|
4.76099e-05
|
|
|
angioid streaks
|
[NCBI]
|
4.76099e-05
|
|
|
glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
|
[NCBI]
|
4.76099e-05
|
|
|
schindler disease, type i
|
[NCBI]
|
4.76099e-05
|
|
|
APTX
|
[NCBI]
|
4.706e-05
|
|
|
ALD
|
[NCBI]
|
4.65518e-05
|
|
|
CJD
|
[NCBI]
|
4.65354e-05
|
|
|
XPA
|
[NCBI]
|
4.62494e-05
|
|
|
AFP
|
[NCBI]
|
4.58961e-05
|
|
|
SLC1A2
|
[NCBI]
|
4.46137e-05
|
|
|
orthostatic intolerance
|
[NCBI]
|
4.44176e-05
|
|
|
basal ganglia disease, adult-onset
|
[NCBI]
|
4.44176e-05
|
|
|
aromatic l-amino acid decarboxylase deficiency
|
[NCBI]
|
4.44176e-05
|
|
|
mitochondrial complex iii deficiency
|
[NCBI]
|
4.44176e-05
|
|
|
MRXSL
|
[NCBI]
|
4.44176e-05
|
|
|
encephalopathy, ethylmalonic
|
[NCBI]
|
4.44176e-05
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
4.42397e-05
|
|
|
GBA
|
[NCBI]
|
4.42284e-05
|
|
|
TNF
|
[NCBI]
|
4.39667e-05
|
|
|
CDG1A
|
[NCBI]
|
4.37143e-05
|
|
|
ZNF673
|
[NCBI]
|
4.32065e-05
|
|
|
glutathionuria
|
[NCBI]
|
4.32065e-05
|
|
|
GPM6A
|
[NCBI]
|
4.32065e-05
|
|
|
GPM6B
|
[NCBI]
|
4.32065e-05
|
|
|
GRIA4
|
[NCBI]
|
4.32065e-05
|
|
|
RPL9
|
[NCBI]
|
4.32065e-05
|
|
|
CTPP4
|
[NCBI]
|
4.32065e-05
|
|
|
SATB1
|
[NCBI]
|
4.32065e-05
|
|
|
PTPNS1
|
[NCBI]
|
4.32065e-05
|
|
|
CTDP1
|
[NCBI]
|
4.32065e-05
|
|
|
GCDH
|
[NCBI]
|
4.31473e-05
|
|
|
GFAP
|
[NCBI]
|
4.22534e-05
|
|
|
HCRT
|
[NCBI]
|
4.17905e-05
|
|
|
TTDN1
|
[NCBI]
|
4.17749e-05
|
|
|
hydroxyacyl-coa dehydrogenase ii deficiency
|
[NCBI]
|
4.17749e-05
|
|
|
GSN
|
[NCBI]
|
3.99294e-05
|
|
|
aging
|
[NCBI]
|
3.95229e-05
|
|
|
leukodystrophy, adult-onset, autosomal dominant
|
[NCBI]
|
3.95229e-05
|
|
|
SCZD1
|
[NCBI]
|
3.95229e-05
|
|
|
elejalde disease
|
[NCBI]
|
3.95229e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
3.95229e-05
|
|
|
adenylosuccinase deficiency
|
[NCBI]
|
3.95229e-05
|
|
|
hyperbilirubinemia, transient familial neonatal
|
[NCBI]
|
3.95229e-05
|
|
|
PDHA1
|
[NCBI]
|
3.93497e-05
|
|
|
RGN
|
[NCBI]
|
3.80373e-05
|
|
|
GATM
|
[NCBI]
|
3.80373e-05
|
|
|
AP3B2
|
[NCBI]
|
3.80373e-05
|
|
|
CDR2
|
[NCBI]
|
3.80373e-05
|
|
|
TCBA1
|
[NCBI]
|
3.80373e-05
|
|
|
GLUD2
|
[NCBI]
|
3.80373e-05
|
|
|
GDF6
|
[NCBI]
|
3.80373e-05
|
|
|
d-2-@hydroxyglutarate dehydrogenase
|
[NCBI]
|
3.80373e-05
|
|
|
ELAVL3
|
[NCBI]
|
3.80373e-05
|
|
|
alpha-ketoglutarate dehydrogenase deficiency
|
[NCBI]
|
3.80373e-05
|
|
|
ANK3
|
[NCBI]
|
3.80373e-05
|
|
|
SPG10
|
[NCBI]
|
3.7563e-05
|
|
|
porphyria, acute intermittent
|
[NCBI]
|
3.73381e-05
|
|
|
ABL
|
[NCBI]
|
3.73381e-05
|
|
|
L1CAM
|
[NCBI]
|
3.72034e-05
|
|
|
MTATP6
|
[NCBI]
|
3.62211e-05
|
|
|
scapuloperoneal syndrome, neurogenic, kaeser type
|
[NCBI]
|
3.58299e-05
|
|
|
dentinogenesis imperfecta, shields type iii
|
[NCBI]
|
3.58299e-05
|
|
|
HAM
|
[NCBI]
|
3.58299e-05
|
|
|
coloboma, ocular
|
[NCBI]
|
3.58299e-05
|
|
|
hyperferritinemia-cataract syndrome
|
[NCBI]
|
3.58299e-05
|
|
|
sarcosinemia
|
[NCBI]
|
3.58299e-05
|
|
|
hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
|
[NCBI]
|
3.58299e-05
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
3.58299e-05
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
3.58299e-05
|
|
|
maple syrup urine disease
|
[NCBI]
|
3.5532e-05
|
|
|
HD
|
[NCBI]
|
3.48085e-05
|
|
|
SYN1
|
[NCBI]
|
3.46918e-05
|
|
|
ELAVL4
|
[NCBI]
|
3.46918e-05
|
|
|
PITPN
|
[NCBI]
|
3.46918e-05
|
|
|
GRIK1
|
[NCBI]
|
3.46918e-05
|
|
|
DLAT
|
[NCBI]
|
3.46918e-05
|
|
|
GRID2
|
[NCBI]
|
3.46918e-05
|
|
|
CKB
|
[NCBI]
|
3.46918e-05
|
|
|
NOVA1
|
[NCBI]
|
3.46918e-05
|
|
|
DBI
|
[NCBI]
|
3.44085e-05
|
|
|
PLSJ
|
[NCBI]
|
3.42779e-05
|
|
|
d-2-@hydroxyglutaric aciduria
|
[NCBI]
|
3.42779e-05
|
|
|
ND
|
[NCBI]
|
3.42615e-05
|
|
|
CMT1A
|
[NCBI]
|
3.38527e-05
|
|
|
HMI
|
[NCBI]
|
3.3569e-05
|
|
|
MECP2
|
[NCBI]
|
3.33444e-05
|
|
|
IS1
|
[NCBI]
|
3.31836e-05
|
|
|
CMT2B
|
[NCBI]
|
3.28739e-05
|
|
|
trifunctional protein deficiency
|
[NCBI]
|
3.28739e-05
|
|
|
lipomatosis, familial benign cervical
|
[NCBI]
|
3.28739e-05
|
|
|
XPF
|
[NCBI]
|
3.28739e-05
|
|
|
CD
|
[NCBI]
|
3.2383e-05
|
|
|
CNP
|
[NCBI]
|
3.22124e-05
|
|
|
MATN1
|
[NCBI]
|
3.22124e-05
|
|
|
GJD2
|
[NCBI]
|
3.22124e-05
|
|
|
LAMP1
|
[NCBI]
|
3.22124e-05
|
|
|
SNDI
|
[NCBI]
|
3.15932e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
3.15932e-05
|
|
|
SYNS1
|
[NCBI]
|
3.15932e-05
|
|
|
GTS
|
[NCBI]
|
3.10421e-05
|
|
|
PNDM
|
[NCBI]
|
3.04167e-05
|
|
|
TTDN1
|
[NCBI]
|
3.02431e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
3.01204e-05
|
|
|
OPD1
|
[NCBI]
|
2.93296e-05
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
2.93296e-05
|
|
|
gaucher disease, type ii
|
[NCBI]
|
2.93296e-05
|
|
|
ALS2
|
[NCBI]
|
2.93296e-05
|
|
|
ALS1
|
[NCBI]
|
2.91117e-05
|
|
|
KCNJ6
|
[NCBI]
|
2.86109e-05
|
|
|
CRLF1
|
[NCBI]
|
2.86109e-05
|
|
|
MTS
|
[NCBI]
|
2.83199e-05
|
|
|
mannosidosis, beta a, lysosomal
|
[NCBI]
|
2.83199e-05
|
|
|
XPD
|
[NCBI]
|
2.83199e-05
|
|
|
NCIE1
|
[NCBI]
|
2.83199e-05
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
2.83199e-05
|
|
|
OPD2
|
[NCBI]
|
2.73778e-05
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
2.73778e-05
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
2.73778e-05
|
|
|
PRND
|
[NCBI]
|
2.72182e-05
|
|
|
GRIA3
|
[NCBI]
|
2.72182e-05
|
|
|
GSS
|
[NCBI]
|
2.72182e-05
|
|
|
ERCC4
|
[NCBI]
|
2.72182e-05
|
|
|
BDNF
|
[NCBI]
|
2.71079e-05
|
|
|
amyloidosis v
|
[NCBI]
|
2.64954e-05
|
|
|
INAD1
|
[NCBI]
|
2.64954e-05
|
|
|
AHDS
|
[NCBI]
|
2.64954e-05
|
|
|
HSAN2
|
[NCBI]
|
2.64954e-05
|
|
|
FMD
|
[NCBI]
|
2.64954e-05
|
|
|
PRL
|
[NCBI]
|
2.60335e-05
|
|
|
GRIA1
|
[NCBI]
|
2.60047e-05
|
|
|
RAB7
|
[NCBI]
|
2.60047e-05
|
|
|
HSD17B10
|
[NCBI]
|
2.60047e-05
|
|
|
NOV
|
[NCBI]
|
2.60047e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
|
[NCBI]
|
2.56661e-05
|
|
|
glutaric acidemia i
|
[NCBI]
|
2.56661e-05
|
|
|
SLC1A1
|
[NCBI]
|
2.49302e-05
|
|
|
GBE1
|
[NCBI]
|
2.49302e-05
|
|
|
alexander disease
|
[NCBI]
|
2.48843e-05
|
|
|
TTDP
|
[NCBI]
|
2.48843e-05
|
|
|
SOST
|
[NCBI]
|
2.48843e-05
|
|
|
SLC6A3
|
[NCBI]
|
2.42557e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
2.41452e-05
|
|
|
PITX3
|
[NCBI]
|
2.39668e-05
|
|
|
SCA1
|
[NCBI]
|
2.38948e-05
|
|
|
GAPDH
|
[NCBI]
|
2.35282e-05
|
|
|
MNGIE
|
[NCBI]
|
2.34447e-05
|
|
|
CNTF
|
[NCBI]
|
2.31735e-05
|
|
|
RAI1
|
[NCBI]
|
2.30942e-05
|
|
|
GSD
|
[NCBI]
|
2.27794e-05
|
|
|
MNS
|
[NCBI]
|
2.27794e-05
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
2.27794e-05
|
|
|
SMS
|
[NCBI]
|
2.24169e-05
|
|
|
ERCC1
|
[NCBI]
|
2.22971e-05
|
|
|
GLUD1
|
[NCBI]
|
2.1564e-05
|
|
|
SCN9A
|
[NCBI]
|
2.1564e-05
|
|
|
SLC16A2
|
[NCBI]
|
2.1564e-05
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
2.15423e-05
|
|
|
MADA
|
[NCBI]
|
2.09654e-05
|
|
|
DLD
|
[NCBI]
|
2.08857e-05
|
|
|
MCOLN1
|
[NCBI]
|
2.08857e-05
|
|
|
SLC6A8
|
[NCBI]
|
2.08857e-05
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
2.03826e-05
|
|
|
DRD
|
[NCBI]
|
1.98848e-05
|
|
|
biotinidase deficiency
|
[NCBI]
|
1.98848e-05
|
|
|
PQBP1
|
[NCBI]
|
1.96654e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
1.93775e-05
|
|
|
GAD2
|
[NCBI]
|
1.91126e-05
|
|
|
citrullinemia, classic
|
[NCBI]
|
1.88901e-05
|
|
|
CDK5
|
[NCBI]
|
1.88159e-05
|
|
|
gaucher disease, type iii
|
[NCBI]
|
1.84215e-05
|
|
|
MAOB
|
[NCBI]
|
1.81013e-05
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
1.79702e-05
|
|
|
FHM1
|
[NCBI]
|
1.79702e-05
|
|
|
GAL
|
[NCBI]
|
1.76006e-05
|
|
|
LGMD2C
|
[NCBI]
|
1.75353e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
1.75353e-05
|
|
|
NRCLP1
|
[NCBI]
|
1.71158e-05
|
|
|
PMD
|
[NCBI]
|
1.69321e-05
|
|
|
FTL
|
[NCBI]
|
1.67754e-05
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
1.67754e-05
|
|
|
PAM
|
[NCBI]
|
1.67754e-05
|
|
|
PFIC1
|
[NCBI]
|
1.67107e-05
|
|
|
TGD
|
[NCBI]
|
1.67107e-05
|
|
|
ACADS
|
[NCBI]
|
1.63754e-05
|
|
|
IP
|
[NCBI]
|
1.62509e-05
|
|
|
ATXN1
|
[NCBI]
|
1.59934e-05
|
|
|
CVS
|
[NCBI]
|
1.55743e-05
|
|
|
XPC
|
[NCBI]
|
1.52779e-05
|
|
|
KCNJ11
|
[NCBI]
|
1.52779e-05
|
|
|
ICAM1
|
[NCBI]
|
1.52779e-05
|
|
|
OCA2
|
[NCBI]
|
1.52194e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
1.52194e-05
|
|
|
GCH1
|
[NCBI]
|
1.4942e-05
|
|
|
CSF2
|
[NCBI]
|
1.4942e-05
|
|
|
SPG3A
|
[NCBI]
|
1.48755e-05
|
|
|
SMAX1
|
[NCBI]
|
1.48184e-05
|
|
|
ARX
|
[NCBI]
|
1.46192e-05
|
|
|
CST3
|
[NCBI]
|
1.46192e-05
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
1.45419e-05
|
|
|
IL3
|
[NCBI]
|
1.43086e-05
|
|
|
KSS
|
[NCBI]
|
1.37916e-05
|
|
|
GAMT
|
[NCBI]
|
1.37211e-05
|
|
|
BTHS
|
[NCBI]
|
1.35988e-05
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
1.34428e-05
|
|
|
ALAD
|
[NCBI]
|
1.34428e-05
|
|
|
GLB1
|
[NCBI]
|
1.31738e-05
|
|
|
NTRK1
|
[NCBI]
|
1.31738e-05
|
|
|
MTRNR1
|
[NCBI]
|
1.31738e-05
|
|
|
WFS1
|
[NCBI]
|
1.30137e-05
|
|
|
NDP
|
[NCBI]
|
1.2662e-05
|
|
|
HSAN3
|
[NCBI]
|
1.24599e-05
|
|
|
FLNA
|
[NCBI]
|
1.24181e-05
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
1.21939e-05
|
|
|
PGK1
|
[NCBI]
|
1.21818e-05
|
|
|
POLG
|
[NCBI]
|
1.19525e-05
|
|
|
kartagener syndrome
|
[NCBI]
|
1.16824e-05
|
|
|
HGF
|
[NCBI]
|
1.15263e-05
|
|
|
GDNF
|
[NCBI]
|
1.15214e-05
|
|
|
ATP7B
|
[NCBI]
|
1.15136e-05
|
|
|
CLN3
|
[NCBI]
|
1.14363e-05
|
|
|
amyloidosis vi
|
[NCBI]
|
1.12658e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
1.11963e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
1.11963e-05
|
|
|
wolman disease
|
[NCBI]
|
1.09002e-05
|
|
|
GPI
|
[NCBI]
|
1.07611e-05
|
|
|
G6PD
|
[NCBI]
|
1.07446e-05
|
|
|
HNPP
|
[NCBI]
|
1.07338e-05
|
|
|
MTM1
|
[NCBI]
|
1.05108e-05
|
|
|
SCA7
|
[NCBI]
|
1.02931e-05
|
|
|
CMT1B
|
[NCBI]
|
1.02931e-05
|
|
|
CSF3
|
[NCBI]
|
1.0155e-05
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
1.0007e-05
|
|
|
CACNA1A
|
[NCBI]
|
9.98022e-06
|
|
|
COL3A1
|
[NCBI]
|
9.80966e-06
|
|
|
BCL2
|
[NCBI]
|
9.80966e-06
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
9.6698e-06
|
|
|
APOA1
|
[NCBI]
|
9.48055e-06
|
|
|
COMT
|
[NCBI]
|
9.36376e-06
|
|
|
PC
|
[NCBI]
|
9.3217e-06
|
|
|
PLP1
|
[NCBI]
|
9.16645e-06
|
|
|
PRNP
|
[NCBI]
|
8.84661e-06
|
|
|
TNFSF6
|
[NCBI]
|
8.75509e-06
|
|
|
FAAH
|
[NCBI]
|
8.57898e-06
|
|
|
SLC4A1
|
[NCBI]
|
8.43991e-06
|
|
|
LNS
|
[NCBI]
|
8.36928e-06
|
|
|
NPPA
|
[NCBI]
|
7.98607e-06
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
7.86937e-06
|
|
|
ABCD1
|
[NCBI]
|
7.66325e-06
|
|
|
MTHFR
|
[NCBI]
|
7.42435e-06
|
|
|
NPC1
|
[NCBI]
|
7.10217e-06
|
|
|
IDUA
|
[NCBI]
|
7.0827e-06
|
|
|
ASS
|
[NCBI]
|
7.0827e-06
|
|
|
NGFR
|
[NCBI]
|
6.35504e-06
|
|
|
AD
|
[NCBI]
|
5.65033e-06
|
|
|
GJB1
|
[NCBI]
|
5.62497e-06
|
|
|
menkes disease
|
[NCBI]
|
5.54286e-06
|
|
|
SLC6A4
|
[NCBI]
|
5.45709e-06
|
|
|
NPY
|
[NCBI]
|
5.00263e-06
|
|
|
VIP
|
[NCBI]
|
4.99413e-06
|
|
|
CCK
|
[NCBI]
|
4.00035e-06
|
|
|
AHR
|
[NCBI]
|
3.98142e-06
|
|
|
TH
|
[NCBI]
|
3.57552e-06
|
|
|
FFI
|
[NCBI]
|
3.44949e-06
|
|
|
POMC
|
[NCBI]
|
3.32777e-06
|
|
|
PWS
|
[NCBI]
|
3.20386e-06
|
|
|
SHBG
|
[NCBI]
|
3.1843e-06
|
|
|
RP
|
[NCBI]
|
3.17939e-06
|
|
|
temporal arteritis
|
[NCBI]
|
3.08729e-06
|
|
|
HMBS
|
[NCBI]
|
3.06586e-06
|
|
|
ADA
|
[NCBI]
|
3.02944e-06
|
|
|
MAP2
|
[NCBI]
|
3.01868e-06
|
|
|
IFNA1
|
[NCBI]
|
2.88087e-06
|
|
|
CD
|
[NCBI]
|
2.87091e-06
|
|
|
AVP
|
[NCBI]
|
2.81998e-06
|
|
|
fabry disease
|
[NCBI]
|
2.73866e-06
|
|
|
ADCYAP1
|
[NCBI]
|
2.70552e-06
|
|
|
ZS
|
[NCBI]
|
2.67427e-06
|
|
|
MS
|
[NCBI]
|
2.61102e-06
|
|
|
ACH
|
[NCBI]
|
2.61102e-06
|
|
|
SDC2
|
[NCBI]
|
2.05541e-06
|
|
|
APOE
|
[NCBI]
|
2.00754e-06
|
|
|
HSCR1
|
[NCBI]
|
1.73951e-06
|
|
|
PTHLH
|
[NCBI]
|
1.46215e-06
|
|
|
AS
|
[NCBI]
|
1.4571e-06
|
|
|
DHFR
|
[NCBI]
|
1.38653e-06
|
|
|
TS
|
[NCBI]
|
1.3505e-06
|
|
|
PD
|
[NCBI]
|
1.33702e-06
|
|
|
EV
|
[NCBI]
|
1.05839e-06
|
|
|
CRH
|
[NCBI]
|
5.57085e-07
|
|
|
XDH
|
[NCBI]
|
4.48463e-07
|
|
|
phenylketonuria
|
[NCBI]
|
4.40379e-07
|
|
|
CP
|
[NCBI]
|
4.40379e-07
|
|
|
DGS
|
[NCBI]
|
3.54814e-07
|
|
|
DMD
|
[NCBI]
|
2.89e-07
|
|
|
FTD
|
[NCBI]
|
2.87531e-07
|
|
|
TF
|
[NCBI]
|
2.28545e-07
|
|
|
ALB
|
[NCBI]
|
2.04848e-07
|
|
|
MJD
|
[NCBI]
|
1.78984e-07
|
|
|
CHS
|
[NCBI]
|
1.0696e-07
|
|
|
EPO
|
[NCBI]
|
8.58192e-08
|
|
|
ACE
|
[NCBI]
|
5.6248e-08
|
|