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01 Fatal Outcome [NCBI]


Gene


Gene Link Information
Gain
01




OMIM


OMIM Link Information
gain
01
corpus callosum, agenesis of, with facial anomalies and robin sequence [NCBI] 0.00179515
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum [NCBI] 0.00172074
NLS [NCBI] 0.0016109
AOS [NCBI] 0.00139121
dandy-walker-like malformation with atrioventricular septal defect [NCBI] 0.00136816
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia [NCBI] 0.00135754
apnea, obstructive sleep [NCBI] 0.00134613
CJD [NCBI] 0.0013034
opsismodysplasia [NCBI] 0.00119455
microcephaly, hiatus hernia, and nephrotic syndrome [NCBI] 0.000998576
RA [NCBI] 0.000970384
short rib-polydactyly syndrome, type iii [NCBI] 0.000872798
cardiomyopathy, fatal fetal, due to myocardial calcification [NCBI] 0.000859246
cataract, congenital, with mental impairment and dentate gyrus atrophy [NCBI] 0.000859246
MRX52 [NCBI] 0.000859246
myopathy, autophagic vacuolar, infantile-onset [NCBI] 0.000859246
armfield x-linked mental retardation syndrome [NCBI] 0.000859246
polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive [NCBI] 0.000859246
DWS [NCBI] 0.00077534
short rib-polydactyly syndrome, type ii [NCBI] 0.000707556
RDT [NCBI] 0.000675815
dysosteosclerosis [NCBI] 0.000596173
natural killer cell deficiency, familial isolated [NCBI] 0.000596173
nievergelt syndrome [NCBI] 0.000596173
multiple mitochondrial dysfunctions syndrome [NCBI] 0.000596173
necrotizing encephalopathy, acute, autosomal dominant [NCBI] 0.000596173
mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly [NCBI] 0.000596173
osteodysplasia, familial, anderson type [NCBI] 0.000596173
RTD [NCBI] 0.000549057
USH1E [NCBI] 0.000498212
cranioectodermal dysplasia [NCBI] 0.000498212
spondylometaphyseal dysplasia, sedaghatian type [NCBI] 0.000498212
MHAC [NCBI] 0.000498212
trichohepatoenteric syndrome [NCBI] 0.000498212
adducted thumb-clubfoot syndrome [NCBI] 0.000498212
cerebellar atrophy with progressive microcephaly [NCBI] 0.000498212
hypoadrenocorticism, familial [NCBI] 0.000498212
bulbar palsy, progressive, with sensorineural deafness [NCBI] 0.000498212
BWCNS [NCBI] 0.000435348
fibrochondrogenesis [NCBI] 0.000435348
ichthyosis follicularis, atrichia, and photophobia syndrome [NCBI] 0.000435348
sneddon syndrome [NCBI] 0.000435348
myeloproliferative syndrome, transient [NCBI] 0.000422719
FRNS [NCBI] 0.000409829
CF [NCBI] 0.000397187
USH2B [NCBI] 0.000389153
splenic hypoplasia [NCBI] 0.000389153
hemifacial microsomia with radial defects [NCBI] 0.000389153
dysgnathia complex [NCBI] 0.000352775
cataract and cardiomyopathy [NCBI] 0.000352775
schinzel-giedion midface-retraction syndrome [NCBI] 0.000352775
neutrophilic dermatosis, acute febrile [NCBI] 0.000352775
visceral myopathy, familial, with external ophthalmoplegia [NCBI] 0.000352775
peho syndrome [NCBI] 0.000352775
carnitine palmitoyltransferase ii deficiency, lethal neonatal [NCBI] 0.000345935
pena-shokeir syndrome, type i [NCBI] 0.000333453
gaucher disease, perinatal lethal [NCBI] 0.000331118
FFI [NCBI] 0.000318224
MUC1 [NCBI] 0.000302117
renal hamartomas, nephroblastomatosis, and fetal gigantism [NCBI] 0.000297606
short rib-polydactyly syndrome, type iv [NCBI] 0.000275775
PTHLH [NCBI] 0.000274411
SHFLD1 [NCBI] 0.00025662
mitochondrial complex i deficiency [NCBI] 0.000247081
SLC25A20 [NCBI] 0.000242495
acroosteolysis with osteoporosis and changes in skull and mandible [NCBI] 0.000239602
AD [NCBI] 0.000225874
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [NCBI] 0.000214301
spinal muscular atrophy, type i, with congenital bone fractures [NCBI] 0.000214301
SLOS [NCBI] 0.000213811
megacystis-microcolon-intestinal hypoperistalsis syndrome [NCBI] 0.000210518
mesothelioma, malignant [NCBI] 0.000210518
AFP [NCBI] 0.00020962
serpentine fibula-polycystic kidney syndrome [NCBI] 0.000198583
abcd syndrome [NCBI] 0.000187535
atpaf2 deficiency [NCBI] 0.000187535
glycogen storage disease iv [NCBI] 0.000186766
CRC [NCBI] 0.000175615
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency [NCBI] 0.000169552
DGS [NCBI] 0.000165703
EFE [NCBI] 0.000162263
MBS [NCBI] 0.000156858
proteus syndrome [NCBI] 0.000156858
muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers [NCBI] 0.000149464
CEACAM5 [NCBI] 0.000141132
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis [NCBI] 0.00013766
MG [NCBI] 0.000132526
dubowitz syndrome [NCBI] 0.000126062
diaphragmatic hernia, congenital [NCBI] 0.000126062
MVA [NCBI] 0.000125239
GACI [NCBI] 0.000125239
ABS [NCBI] 0.000121656
VWM [NCBI] 0.000118297
SDS [NCBI] 0.000117705
amyloidosis vii [NCBI] 0.000111766
temporal arteritis [NCBI] 0.000107775
megalencephaly-cutis marmorata telangiectatica congenita [NCBI] 0.000104564
hemochromatosis, neonatal [NCBI] 0.000104564
vacterl association with hydrocephalus, x-linked [NCBI] 9.85239e-05
panencephalitis, subacute sclerosing [NCBI] 9.84243e-05
CDLS1 [NCBI] 9.51502e-05
arthrogryposis with hyperkeratosis [NCBI] 9.37525e-05
lethal short-limb skeletal dysplasia, al gazali type [NCBI] 9.37525e-05
glutamine deficiency, congenital [NCBI] 9.37525e-05
muscular dystrophy, congenital, megaconial type [NCBI] 9.37525e-05
bifid nose, renal agenesis, and anorectal malformations [NCBI] 9.37525e-05
PMSE [NCBI] 9.37525e-05
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [NCBI] 9.37525e-05
encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia [NCBI] 9.37525e-05
epidermolysis bullosa, lethal acantholytic [NCBI] 9.37525e-05
spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration [NCBI] 9.37525e-05
COFS4 [NCBI] 9.37525e-05
arthropathy, tendinous calcinosis, and progeroid features [NCBI] 9.37525e-05
motor neuron disease with dementia and ophthalmoplegia [NCBI] 9.37525e-05
hydrocephalus, endocardial fibroelastosis, and cataracts [NCBI] 9.37525e-05
pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease [NCBI] 9.37525e-05
nephropathy, progressive tubulointerstitial, with cholestatic liver disease [NCBI] 9.37525e-05
osteosclerotic chondrodysplasia, lethal, with intracellular inclusions [NCBI] 9.37525e-05
meacham syndrome [NCBI] 9.37525e-05
acrocephalopolydactylous dysplasia [NCBI] 9.37525e-05
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia [NCBI] 9.37525e-05
atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease [NCBI] 9.37525e-05
ulnar hypoplasia with mental retardation [NCBI] 9.37525e-05
hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities [NCBI] 9.37525e-05
COXPD5 [NCBI] 9.37525e-05
CDG2B [NCBI] 9.37525e-05
trisomy 18-like syndrome [NCBI] 9.37525e-05
skeletal dysplasia and progressive central nervous system degeneration, lethal [NCBI] 9.37525e-05
baby rattle pelvis dysplasia [NCBI] 9.37525e-05
diarrhea 4, malabsorptive, congenital [NCBI] 9.37525e-05
RNS [NCBI] 9.33275e-05
c syndrome [NCBI] 9.33275e-05
HSD17B4 [NCBI] 9.27385e-05
GIST [NCBI] 8.74342e-05
holoprosencephaly [NCBI] 8.71853e-05
EGF [NCBI] 8.6804e-05
costello syndrome [NCBI] 8.55246e-05
PCD [NCBI] 8.27384e-05
PRNP [NCBI] 8.25552e-05
hemangioma-thrombocytopenia syndrome [NCBI] 8.10772e-05
SPS [NCBI] 7.85119e-05
d-bifunctional protein deficiency [NCBI] 7.77683e-05
GBE1 [NCBI] 7.67776e-05
KSS [NCBI] 7.60429e-05
CMTC [NCBI] 7.19522e-05
danon disease [NCBI] 7.19522e-05
kabuki syndrome [NCBI] 7.06643e-05
LMNA [NCBI] 7.02176e-05
EIF2B5 [NCBI] 6.98859e-05
ALK [NCBI] 6.65838e-05
SLE [NCBI] 6.61704e-05
human herpesvirus type 6, integrated [NCBI] 6.61653e-05
craniomicromelic syndrome [NCBI] 6.61653e-05
glycogen storage disease of heart, lethal congenital [NCBI] 6.61653e-05
biliary malformation with renal tubular insufficiency [NCBI] 6.61653e-05
AGS4 [NCBI] 6.61653e-05
pulmonary hypoplasia, primary [NCBI] 6.61653e-05
pyridoxamine 5-prime-phosphate oxidase deficiency [NCBI] 6.61653e-05
radial aplasia, x-linked [NCBI] 6.61653e-05
myelocytic leukemia-like syndrome, familial, chronic [NCBI] 6.61653e-05
enterocolitis [NCBI] 6.61653e-05
renal dysplasia, diffuse cystic [NCBI] 6.61653e-05
MRX45 [NCBI] 6.61653e-05
malignant hyperthermia, susceptibility to, 5 [NCBI] 6.61653e-05
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease [NCBI] 6.61653e-05
neuronal intranuclear inclusion disease [NCBI] 6.61653e-05
asplenia with cystic liver, kidney, and pancreas [NCBI] 6.61653e-05
lissencephaly type iii and bone dysplasia [NCBI] 6.61653e-05
omphalocele, diaphragmatic hernia, and radial ray defects [NCBI] 6.61653e-05
HADHA [NCBI] 6.29284e-05
MHS1 [NCBI] 6.27385e-05
RP [NCBI] 6.14675e-05
DA2A [NCBI] 6.06326e-05
epidermolysis bullosa letalis [NCBI] 6.06326e-05
EBR1 [NCBI] 5.8762e-05
DBA [NCBI] 5.85088e-05
fraser syndrome [NCBI] 5.6992e-05
epidermolysis bullosa with pyloric atresia [NCBI] 5.6992e-05
tracheoesophageal fistula with or without esophageal atresia [NCBI] 5.58689e-05
crisponi syndrome [NCBI] 5.58689e-05
pulmonary hypertension, familial persistent, of the newborn [NCBI] 5.58689e-05
MCOPCB3 [NCBI] 5.58689e-05
bile acid synthesis defect, congenital, 2 [NCBI] 5.58689e-05
agonadism with multiple internal malformations [NCBI] 5.58689e-05
frank-ter haar syndrome [NCBI] 5.53622e-05
PD [NCBI] 5.19833e-05
SVAS [NCBI] 5.1683e-05
epidermolysis bullosa simplex, ogna type [NCBI] 4.92479e-05
nuchal bleb, familial [NCBI] 4.92479e-05
myelocerebellar disorder [NCBI] 4.92479e-05
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly [NCBI] 4.92479e-05
simpson-golabi-behmel syndrome, type 2 [NCBI] 4.92479e-05
USH1F [NCBI] 4.92479e-05
MLASA [NCBI] 4.92479e-05
femur-fibula-ulna syndrome [NCBI] 4.92479e-05
menkes disease [NCBI] 4.7841e-05
AVSD [NCBI] 4.71165e-05
klippel-trenaunay-weber syndrome [NCBI] 4.579e-05
SCO2 [NCBI] 4.56642e-05
oculocerebrocutaneous syndrome [NCBI] 4.43725e-05
NEM1 [NCBI] 4.43725e-05
lymphedema, hereditary, ii [NCBI] 4.43725e-05
pseudodiastrophic dysplasia [NCBI] 4.43725e-05
MRX54 [NCBI] 4.43725e-05
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive [NCBI] 4.43725e-05
LISX2 [NCBI] 4.43725e-05
schneckenbecken dysplasia [NCBI] 4.43725e-05
SGBS1 [NCBI] 4.32433e-05
PRKAG2 [NCBI] 4.2262e-05
mitochondrial complex iv deficiency [NCBI] 4.21572e-05
HRAS [NCBI] 4.19232e-05
l-2-hydroxyglutaric aciduria [NCBI] 4.05251e-05
choreoathetosis, hypothyroidism, and neonatal respiratory distress [NCBI] 4.05251e-05
whistling face syndrome, recessive form [NCBI] 4.05251e-05
paget disease, juvenile [NCBI] 4.05251e-05
gaucher disease, atypical, due to saposin c deficiency [NCBI] 4.05251e-05
PLSDT [NCBI] 4.05251e-05
lactic acidosis, fatal infantile [NCBI] 4.05251e-05
naxos disease [NCBI] 4.05251e-05
boomerang dysplasia [NCBI] 4.05251e-05
MRXSL [NCBI] 4.05251e-05
oeis complex [NCBI] 4.05251e-05
USH2C [NCBI] 4.05251e-05
XLP1 [NCBI] 4.01003e-05
LS [NCBI] 3.99645e-05
PSEN1 [NCBI] 3.97571e-05
ARSA [NCBI] 3.84095e-05
radial ray deficiency, x-linked [NCBI] 3.76684e-05
cardiomyopathy, dilated, with woolly hair and keratoderma [NCBI] 3.73571e-05
congenital disorder of glycosylation, type i/iix [NCBI] 3.73571e-05
vacterl association with hydrocephalus [NCBI] 3.73571e-05
cardiomyopathy, familial hypertrophic, with wolff-parkinson-white syndrome [NCBI] 3.73571e-05
FHL2 [NCBI] 3.73571e-05
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal [NCBI] 3.73571e-05
SQT1 [NCBI] 3.73571e-05
mucolipidosis ii [NCBI] 3.72709e-05
ASS [NCBI] 3.62946e-05
DHCR7 [NCBI] 3.62594e-05
FLT3 [NCBI] 3.5689e-05
GBA [NCBI] 3.53329e-05
HPS2 [NCBI] 3.46719e-05
MRX9 [NCBI] 3.46719e-05
SCA8 [NCBI] 3.46719e-05
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus [NCBI] 3.46719e-05
myoclonic epilepsy, neonatal, with suppression-burst pattern [NCBI] 3.46719e-05
GFAP [NCBI] 3.25729e-05
fructose-1,6-bisphosphatase deficiency [NCBI] 3.23478e-05
caffey disease [NCBI] 3.23478e-05
ACG2 [NCBI] 3.23478e-05
por deficiency [NCBI] 3.23478e-05
immunoosseous dysplasia, schimke type [NCBI] 3.23478e-05
NSHPT [NCBI] 3.23478e-05
IFNGR1 [NCBI] 3.23378e-05
ARX [NCBI] 3.19307e-05
GCDH [NCBI] 3.1158e-05
ACPP [NCBI] 3.06586e-05
MTND5 [NCBI] 3.04349e-05
schwannomatosis [NCBI] 3.03038e-05
trifunctional protein deficiency [NCBI] 3.03038e-05
pseudotrisomy 13 syndrome [NCBI] 3.03038e-05
LGMD2E [NCBI] 3.03038e-05
USH1D [NCBI] 3.03038e-05
renal tubular acidosis, distal, with progressive nerve deafness [NCBI] 3.03038e-05
PCS [NCBI] 3.03038e-05
stuve-wiedemann syndrome [NCBI] 3.03038e-05
FMD [NCBI] 3.03038e-05
CYBB [NCBI] 3.00902e-05
ATPAF2 [NCBI] 2.94314e-05
MIPOL1 [NCBI] 2.94314e-05
SUCLG1 [NCBI] 2.94314e-05
ste20-related adaptor protein [NCBI] 2.94314e-05
NF2 [NCBI] 2.88916e-05
ACADS [NCBI] 2.88086e-05
3-@methylcrotonyl-coa carboxylase 1 deficiency [NCBI] 2.84838e-05
hydrolethalus syndrome 1 [NCBI] 2.84838e-05
MCOPS3 [NCBI] 2.84838e-05
kniest dysplasia [NCBI] 2.84838e-05
EDNRB [NCBI] 2.82193e-05
NPY [NCBI] 2.75242e-05
VEGF [NCBI] 2.68489e-05
mitochondrial dna depletion syndrome, myopathic form [NCBI] 2.68467e-05
plasminogen deficiency, type i [NCBI] 2.68467e-05
tight skin contracture syndrome, lethal [NCBI] 2.68467e-05
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to [NCBI] 2.68467e-05
encephalopathy, neonatal severe, due to mecp2 mutations [NCBI] 2.68467e-05
HHS [NCBI] 2.68467e-05
SMDP1 [NCBI] 2.68467e-05
FA [NCBI] 2.65465e-05
MTATP6 [NCBI] 2.6374e-05
GMPS [NCBI] 2.6329e-05
MRPS22 [NCBI] 2.6329e-05
SLC35D1 [NCBI] 2.6329e-05
CEP1 [NCBI] 2.6329e-05
GAS7 [NCBI] 2.6329e-05
MLL [NCBI] 2.56693e-05
wolff-parkinson-white syndrome [NCBI] 2.53619e-05
epidermolysis bullosa simplex and limb-girdle muscular dystrophy [NCBI] 2.53619e-05
USH3 [NCBI] 2.53619e-05
pearson marrow-pancreas syndrome [NCBI] 2.53619e-05
XPD [NCBI] 2.53619e-05
DSG3 [NCBI] 2.52237e-05
OTC [NCBI] 2.4384e-05
PNPO [NCBI] 2.4318e-05
NDUFS3 [NCBI] 2.4318e-05
LPP [NCBI] 2.4318e-05
RNASEH2A [NCBI] 2.4318e-05
ZNF81 [NCBI] 2.4318e-05
MAP3K3 [NCBI] 2.4318e-05
GCS1 [NCBI] 2.4318e-05
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 [NCBI] 2.4006e-05
tetralogy of fallot [NCBI] 2.4006e-05
AGS1 [NCBI] 2.4006e-05
OPD2 [NCBI] 2.4006e-05
LGMD1B [NCBI] 2.4006e-05
JBS [NCBI] 2.4006e-05
USH1C [NCBI] 2.4006e-05
KCNQ1 [NCBI] 2.34191e-05
TRIM21 [NCBI] 2.28253e-05
NDUFV2 [NCBI] 2.28253e-05
PUS1 [NCBI] 2.28253e-05
MTTW [NCBI] 2.28253e-05
GFM1 [NCBI] 2.28253e-05
CTHM [NCBI] 2.27605e-05
waardenburg-shah syndrome [NCBI] 2.27605e-05
muckle-wells syndrome [NCBI] 2.27605e-05
ALD [NCBI] 2.25051e-05
thrombocytopenic purpura, autoimmune [NCBI] 2.20359e-05
TD1 [NCBI] 2.17125e-05
FTSJ1 [NCBI] 2.16379e-05
ATP6V1B1 [NCBI] 2.16379e-05
NDUFS1 [NCBI] 2.16379e-05
GCE [NCBI] 2.16107e-05
NBIA1 [NCBI] 2.16107e-05
PFM [NCBI] 2.16107e-05
alexander disease [NCBI] 2.16107e-05
IPEX [NCBI] 2.16107e-05
infantile sialic acid storage disorder [NCBI] 2.16107e-05
IVA [NCBI] 2.16107e-05
ACHE [NCBI] 2.0834e-05
LPI [NCBI] 2.07929e-05
RYR1 [NCBI] 2.06733e-05
OPTB3 [NCBI] 2.05444e-05
molybdenum cofactor deficiency [NCBI] 2.05444e-05
FXTAS [NCBI] 2.05444e-05
TH [NCBI] 2.01109e-05
NDUFS4 [NCBI] 1.98101e-05
NIPBL [NCBI] 1.98101e-05
FANCE [NCBI] 1.98101e-05
PEX6 [NCBI] 1.98101e-05
BGS [NCBI] 1.9552e-05
HPS [NCBI] 1.90784e-05
ARSE [NCBI] 1.9075e-05
TK2 [NCBI] 1.9075e-05
POR [NCBI] 1.9075e-05
CD3D [NCBI] 1.9075e-05
NEUROG3 [NCBI] 1.9075e-05
CRLF1 [NCBI] 1.9075e-05
CHX10 [NCBI] 1.9075e-05
KLK3 [NCBI] 1.89875e-05
BWS [NCBI] 1.87663e-05
acyl-coa dehydrogenase, very long-chain, deficiency of [NCBI] 1.86252e-05
PCLD [NCBI] 1.86252e-05
TTDP [NCBI] 1.86252e-05
AMPH [NCBI] 1.84232e-05
farber lipogranulomatosis [NCBI] 1.84232e-05
polycystic kidneys [NCBI] 1.813e-05
FGFR3 [NCBI] 1.80815e-05
AIRE [NCBI] 1.78414e-05
SGCB [NCBI] 1.78378e-05
NAGS [NCBI] 1.78378e-05
canavan disease [NCBI] 1.7757e-05
refsum disease, infantile form [NCBI] 1.7757e-05
KRT20 [NCBI] 1.75248e-05
ECGF1 [NCBI] 1.73068e-05
GLUL [NCBI] 1.73068e-05
EIF2AK3 [NCBI] 1.73068e-05
SUZ12 [NCBI] 1.73068e-05
CDPX1 [NCBI] 1.69416e-05
MNGIE [NCBI] 1.69416e-05
ZNF198 [NCBI] 1.6821e-05
MSN [NCBI] 1.6821e-05
HLCS [NCBI] 1.63735e-05
TCIRG1 [NCBI] 1.63735e-05
CSF2RB [NCBI] 1.63735e-05
NPM1 [NCBI] 1.58154e-05
AP3B1 [NCBI] 1.55725e-05
glycogen storage disease iii [NCBI] 1.54498e-05
USH2A [NCBI] 1.54498e-05
MADD [NCBI] 1.54498e-05
THBD [NCBI] 1.5211e-05
SOX2 [NCBI] 1.48714e-05
AMFR [NCBI] 1.48714e-05
RMD [NCBI] 1.47652e-05
acyl-coa dehydrogenase, medium-chain, deficiency of [NCBI] 1.47652e-05
SCDO1 [NCBI] 1.47652e-05
FGFR1 [NCBI] 1.4748e-05
ADSL [NCBI] 1.45513e-05
ITGB4 [NCBI] 1.45513e-05
TPM3 [NCBI] 1.45513e-05
ACTA1 [NCBI] 1.45513e-05
JMML [NCBI] 1.43927e-05
wilson disease [NCBI] 1.43927e-05
DNM1L [NCBI] 1.42486e-05
lymphoma, non-hodgkin, familial [NCBI] 1.42402e-05
NEM3 [NCBI] 1.4117e-05
PBD [NCBI] 1.4117e-05
AHC [NCBI] 1.4117e-05
ehlers-danlos syndrome, type iv, autosomal dominant [NCBI] 1.4117e-05
SEDC [NCBI] 1.4117e-05
VIP [NCBI] 1.39767e-05
CA2 [NCBI] 1.39616e-05
PHOX2B [NCBI] 1.39616e-05
CACNA1S [NCBI] 1.39616e-05
SFTPB [NCBI] 1.39616e-05
CPT2 [NCBI] 1.36887e-05
DSP [NCBI] 1.36887e-05
SMA2 [NCBI] 1.35022e-05
atypical mycobacteriosis, familial [NCBI] 1.35022e-05
ALMS [NCBI] 1.35022e-05
ERCC1 [NCBI] 1.34288e-05
MC2R [NCBI] 1.34288e-05
EBP [NCBI] 1.34288e-05
LAMB3 [NCBI] 1.31806e-05
NKX2-1 [NCBI] 1.31806e-05
LTC4S [NCBI] 1.31806e-05
PMM2 [NCBI] 1.29433e-05
mucopolysaccharidosis type vii [NCBI] 1.29182e-05
OPTB1 [NCBI] 1.29182e-05
FTD [NCBI] 1.25695e-05
PMS2 [NCBI] 1.24975e-05
myoclonic epilepsy of lafora [NCBI] 1.23628e-05
PHS [NCBI] 1.23628e-05
usher syndrome, type i [NCBI] 1.23628e-05
MVK [NCBI] 1.22877e-05
apc gene [NCBI] 1.21403e-05
PITX2 [NCBI] 1.18912e-05
pyruvate decarboxylase deficiency [NCBI] 1.18339e-05
alzheimer disease 3 [NCBI] 1.18339e-05
leiomyomatosis and renal cell cancer, hereditary [NCBI] 1.18339e-05
APC [NCBI] 1.17387e-05
ETV6 [NCBI] 1.17034e-05
CYP11B2 [NCBI] 1.1522e-05
EDN3 [NCBI] 1.1522e-05
GPC3 [NCBI] 1.1522e-05
ERCC2 [NCBI] 1.13467e-05
neuraminidase deficiency with beta-galactosidase deficiency [NCBI] 1.13467e-05
MCOPS7 [NCBI] 1.13297e-05
MTND6 [NCBI] 1.11769e-05
WHS [NCBI] 1.10323e-05
HMI [NCBI] 1.10125e-05
EGFR [NCBI] 1.0854e-05
anemia, sideroblastic, x-linked [NCBI] 1.08531e-05
RBS [NCBI] 1.08486e-05
MTCO2 [NCBI] 1.06984e-05
APOE [NCBI] 1.06694e-05
MYO7A [NCBI] 1.05482e-05
ASPA [NCBI] 1.04022e-05
ATP7A [NCBI] 1.04022e-05
PTPRC [NCBI] 1.02602e-05
wolman disease [NCBI] 1.02602e-05
DSG1 [NCBI] 1.0122e-05
TTR [NCBI] 1.0113e-05
TNFRSF1B [NCBI] 9.98749e-06
GRN [NCBI] 9.98749e-06
PARK2 [NCBI] 9.94961e-06
JAK2 [NCBI] 9.70581e-06
KCNH2 [NCBI] 9.70581e-06
CVID [NCBI] 9.5785e-06
POLG [NCBI] 9.48235e-06
SOX9 [NCBI] 9.48235e-06
SRS [NCBI] 9.34898e-06
TNF [NCBI] 9.17163e-06
ABCA1 [NCBI] 9.13421e-06
SJS1 [NCBI] 9.12668e-06
CDPX2 [NCBI] 9.12668e-06
CLL [NCBI] 9.12668e-06
campomelic dysplasia [NCBI] 9.12668e-06
COL3A1 [NCBI] 8.91496e-06
WAS [NCBI] 8.91496e-06
FGF23 [NCBI] 8.91496e-06
RTT [NCBI] 8.86598e-06
factor vii deficiency [NCBI] 8.80889e-06
leber optic atrophy [NCBI] 8.80305e-06
SMA3 [NCBI] 8.741e-06
MDLS [NCBI] 8.741e-06
SH2D1A [NCBI] 8.70505e-06
MTND1 [NCBI] 8.60338e-06
PSAP [NCBI] 8.60338e-06
FLNA [NCBI] 8.50378e-06
PROCR [NCBI] 8.40619e-06
ITGB2 [NCBI] 8.40619e-06
CDG1A [NCBI] 8.37122e-06
MYH7 [NCBI] 8.31053e-06
KIT [NCBI] 8.31053e-06
MPO [NCBI] 8.0983e-06
aHUS [NCBI] 8.0165e-06
MJD [NCBI] 7.94083e-06
WT1 [NCBI] 7.77359e-06
WAS [NCBI] 7.74318e-06
LPL [NCBI] 7.72119e-06
NF2 [NCBI] 7.68974e-06
UGT1A1 [NCBI] 7.52641e-06
PWS [NCBI] 7.52165e-06
EV [NCBI] 7.23266e-06
CFTR [NCBI] 7.0731e-06
CDSP [NCBI] 7.03499e-06
LOX [NCBI] 6.8557e-06
LRRK2 [NCBI] 6.78696e-06
adrenoleukodystrophy, autosomal neonatal form [NCBI] 6.73312e-06
FGA [NCBI] 6.71926e-06
APOA1 [NCBI] 6.58689e-06
MTTL1 [NCBI] 6.45839e-06
RTS [NCBI] 6.44289e-06
MTHFR [NCBI] 6.21222e-06
dystrophia myotonica 1 [NCBI] 6.18376e-06
ADA [NCBI] 6.16536e-06
aortic valve disease [NCBI] 5.89522e-06
BTK [NCBI] 5.81283e-06
AR [NCBI] 5.61198e-06
antithrombin iii deficiency [NCBI] 5.60062e-06
LAM [NCBI] 5.4677e-06
PCD [NCBI] 5.4677e-06
CSA [NCBI] 5.38807e-06
LNS [NCBI] 5.14861e-06
GUSB [NCBI] 5.02347e-06
HHT [NCBI] 4.91804e-06
sickle cell anemia [NCBI] 4.91804e-06
BL [NCBI] 4.82727e-06
PC [NCBI] 4.80594e-06
IFNA1 [NCBI] 4.76388e-06
AMC [NCBI] 4.69599e-06
OCP [NCBI] 4.69599e-06
F3 [NCBI] 4.64132e-06
RNASE2 [NCBI] 4.52093e-06
CLS [NCBI] 4.48212e-06
ARPKD [NCBI] 4.27611e-06
SPINK1 [NCBI] 4.25638e-06
CPI [NCBI] 4.14938e-06
ED1 [NCBI] 4.07766e-06
NPC1 [NCBI] 3.70231e-06
SLS [NCBI] 3.70231e-06
NGFR [NCBI] 3.39134e-06
PTEN [NCBI] 3.30796e-06
ACADM [NCBI] 3.07061e-06
PCNA [NCBI] 2.83283e-06
PTH [NCBI] 2.59321e-06
HGPS [NCBI] 2.58943e-06
G6PD [NCBI] 2.5677e-06
AVP [NCBI] 2.54511e-06
velocardiofacial syndrome [NCBI] 2.32202e-06
TS [NCBI] 2.25959e-06
metachromatic leukodystrophy [NCBI] 2.19585e-06
WBS [NCBI] 2.01099e-06
glycogen storage disease ii [NCBI] 1.95783e-06
PJS [NCBI] 1.94752e-06
PLG [NCBI] 1.74304e-06
RB1 [NCBI] 1.64146e-06
SCA2 [NCBI] 1.43988e-06
DFSP [NCBI] 1.43422e-06
CCD [NCBI] 1.26098e-06
NF1 [NCBI] 1.25994e-06
CHS [NCBI] 1.24886e-06
DRPLA [NCBI] 1.19621e-06
SOD1 [NCBI] 1.18211e-06
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency [NCBI] 8.77003e-07
PXE [NCBI] 8.08911e-07
SPP1 [NCBI] 8.08773e-07
RNASE3 [NCBI] 8.08039e-07
MBP [NCBI] 7.15511e-07
MBL2 [NCBI] 6.74701e-07
LCAT [NCBI] 6.46372e-07
PMD [NCBI] 5.23264e-07
TNFRSF11B [NCBI] 4.04752e-07
TSD [NCBI] 3.84034e-07
HSCR1 [NCBI] 3.52733e-07
ZS [NCBI] 3.44118e-07
APS1 [NCBI] 3.44118e-07
GHRH [NCBI] 3.24671e-07
amyloidosis vi [NCBI] 3.10002e-07
TNFSF6 [NCBI] 2.67752e-07
PGR [NCBI] 2.46938e-07
FRAP1 [NCBI] 2.20673e-07
CD [NCBI] 2.06279e-07
FMF [NCBI] 1.94375e-07
ABCC1 [NCBI] 1.57766e-07
krabbe disease [NCBI] 1.51637e-07
EPO [NCBI] 1.33483e-07
BBS [NCBI] 7.24183e-08
VHL [NCBI] 5.35504e-08
HD [NCBI] 5.24137e-08
MFS [NCBI] 2.54985e-08
CMH [NCBI] 1.18378e-08
TFPI [NCBI] 1.09476e-08
hla-d histocompatibility type [NCBI] 2.28571e-09




Database Center for Life Science