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01 Muscle Hypotonia [NCBI]

Gene


 Gene Link Information
Gain		 01
MRX15 [NCBI] 0.000362052
FGS2 [NCBI] 0.000362052
FGS4 [NCBI] 0.000362052
FGS1 [NCBI] 0.000362052
CNSN [NCBI] 0.000301317
PSS [NCBI] 0.000278399
PKC [NCBI] 0.000157558
TRNL1 [NCBI] 0.000150483
MTM1 [NCBI] 6.66474e-05
SLC16A2 [NCBI] 6.66474e-05
PREPL [NCBI] 5.20912e-05
SLC3A1 [NCBI] 4.54115e-05
MS [NCBI] 4.00447e-05
MED12 [NCBI] 3.10347e-05
MTMR3 [NCBI] 2.61052e-05
ALG9 [NCBI] 2.50881e-05
MECP2 [NCBI] 2.29534e-05
MTMR1 [NCBI] 2.19118e-05
ACADS [NCBI] 2.15836e-05
POMGNT1 [NCBI] 2.07542e-05
LAMB2 [NCBI] 2.00871e-05
AHI1 [NCBI] 1.93616e-05
SLC6A8 [NCBI] 1.90494e-05
MTMR2 [NCBI] 1.87633e-05
GAMT [NCBI] 1.81379e-05
ALDH5A1 [NCBI] 1.61879e-05
CHD8 [NCBI] 1.54247e-05
C2orf34 [NCBI] 1.54247e-05
MTMR7 [NCBI] 1.54247e-05
MPZ [NCBI] 1.35703e-05
SNRPN [NCBI] 1.33954e-05
MCCC1 [NCBI] 1.21461e-05
SLC25A3 [NCBI] 1.21461e-05
MTMR4 [NCBI] 1.21461e-05
CER1 [NCBI] 1.21461e-05
MTMR6 [NCBI] 1.21461e-05
RAB3GAP1 [NCBI] 1.15629e-05
ACADL [NCBI] 1.11292e-05
PEX11A [NCBI] 1.11292e-05
SBF1 [NCBI] 1.11292e-05
PEX11B [NCBI] 1.11292e-05
SUPT16H [NCBI] 1.07837e-05
MAMLD1 [NCBI] 1.07837e-05
ATP10A [NCBI] 1.04963e-05
ALG3 [NCBI] 1.00354e-05
DMPK [NCBI] 9.95567e-06
SH3BGR [NCBI] 9.84443e-06
SHANK3 [NCBI] 9.84443e-06
PRPS1 [NCBI] 9.84443e-06
SUCLA2 [NCBI] 9.84443e-06
PHF6 [NCBI] 9.84443e-06
PFKL [NCBI] 9.67264e-06
ZIC1 [NCBI] 9.51653e-06
ACSL4 [NCBI] 9.37348e-06
DLD [NCBI] 9.37348e-06
DNM1L [NCBI] 9.37348e-06
SCO1 [NCBI] 9.37348e-06
PEX12 [NCBI] 9.37348e-06
MLPH [NCBI] 9.37348e-06
ATRN [NCBI] 9.24147e-06
CFC1 [NCBI] 9.24147e-06
SLC12A6 [NCBI] 9.11893e-06
GBE1 [NCBI] 9.00458e-06
PFKM [NCBI] 8.8974e-06
TREX1 [NCBI] 8.79655e-06
GLDC [NCBI] 8.70132e-06
HADHA [NCBI] 8.52543e-06
LAMA2 [NCBI] 8.44384e-06
DNM2 [NCBI] 8.29151e-06
OPHN1 [NCBI] 8.29151e-06
ZIC2 [NCBI] 8.22016e-06
MAPT [NCBI] 8.14569e-06
CEP290 [NCBI] 8.08582e-06
ATXN7 [NCBI] 7.96129e-06
CDKL5 [NCBI] 7.90228e-06
CRHR1 [NCBI] 7.58562e-06
PEX1 [NCBI] 7.58562e-06
ASPA [NCBI] 7.16158e-06
ATRX [NCBI] 6.62009e-06
CRYAB [NCBI] 6.43929e-06
SOX10 [NCBI] 6.29839e-06
GPI [NCBI] 6.29839e-06
HEXA [NCBI] 6.02837e-06
WNT1 [NCBI] 5.93507e-06
GAA [NCBI] 5.8126e-06
UBE3A [NCBI] 5.66725e-06
ESD [NCBI] 5.62148e-06
TH [NCBI] 5.58519e-06
MAP2K2 [NCBI] 5.50523e-06
GATA3 [NCBI] 5.46365e-06
MUSK [NCBI] 5.39657e-06
ATP7A [NCBI] 5.03212e-06
DMD [NCBI] 4.82423e-06
GNAS [NCBI] 4.59065e-06
SMN1 [NCBI] 4.14276e-06
MAP2K1 [NCBI] 4.01934e-06
TGFBR1 [NCBI] 3.59953e-06
PMP22 [NCBI] 3.43128e-06
PML [NCBI] 3.28312e-06
F2 [NCBI] 3.0633e-06
F5 [NCBI] 2.72858e-06
BRAF [NCBI] 2.57852e-06
ACHE [NCBI] 1.69273e-06
MTHFR [NCBI] 1.65733e-06
CD68 [NCBI] 1.56203e-06
GFAP [NCBI] 9.68766e-07



OMIM


 OMIM Link Information
gain		 01
peho syndrome [NCBI] 0.00112359
megalocornea-mental retardation syndrome [NCBI] 0.000964146
ethanolaminosis [NCBI] 0.000887234
CFTD2 [NCBI] 0.000887234
FGS4 [NCBI] 0.000887234
dandy-walker-like malformation with atrioventricular septal defect [NCBI] 0.000766732
JBTS1 [NCBI] 0.000671768
spastic diplegia, infantile type [NCBI] 0.000669824
adducted thumbs syndrome [NCBI] 0.000588105
FGS2 [NCBI] 0.000588105
COH1 [NCBI] 0.000560699
muscular dystrophy, congenital, merosin-positive [NCBI] 0.00053523
OKS [NCBI] 0.000533621
carnosinemia [NCBI] 0.000496053
bulbar palsy, progressive, with sensorineural deafness [NCBI] 0.000496053
opsismodysplasia [NCBI] 0.000496053
auriculocondylar syndrome [NCBI] 0.000496053
cutis laxa, corneal clouding, and mental retardation [NCBI] 0.000464945
MTM1 [NCBI] 0.000444111
MEAX [NCBI] 0.000439168
corpus callosum, agenesis of, with facial anomalies and robin sequence [NCBI] 0.000439168
MCOPS6 [NCBI] 0.000439168
cataract and cardiomyopathy [NCBI] 0.00041718
RA [NCBI] 0.000400694
carnitine deficiency, myopathic [NCBI] 0.000398025
aniridia, cerebellar ataxia, and mental deficiency [NCBI] 0.000398025
PCA [NCBI] 0.000381069
PWS [NCBI] 0.000303561
CGF [NCBI] 0.000289369
marden-walker syndrome [NCBI] 0.000289369
SLE [NCBI] 0.000286239
MTM1 [NCBI] 0.000264428
CFTD [NCBI] 0.000256756
FRNS [NCBI] 0.000213862
hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation [NCBI] 0.000203166
MEB [NCBI] 0.000200464
NEM3 [NCBI] 0.000186255
myotubular myopathy with abnormal genital development [NCBI] 0.000172242
AOS [NCBI] 0.000170098
nevo syndrome [NCBI] 0.000158282
MTMR3 [NCBI] 0.000156628
kabuki syndrome [NCBI] 0.000133505
JBTS3 [NCBI] 0.000130423
MTMR1 [NCBI] 0.000123188
ACCPN [NCBI] 0.000113028
EKD1 [NCBI] 0.000108322
coenzyme q10 deficiency [NCBI] 0.000105872
MTMR2 [NCBI] 0.000104815
neuropathy, congenital hypomyelinating [NCBI] 0.000103807
choreoathetosis, familial inverted [NCBI] 0.000101535
muscular hypoplasia, congenital universal, of krabbe [NCBI] 0.000101535
mitochondrial phosphate carrier deficiency [NCBI] 0.000101535
CDG1L [NCBI] 0.000101535
uruguay faciocardiomusculoskeletal syndrome [NCBI] 0.000101535
hair whorl [NCBI] 0.000101535
adrenomyodystrophy [NCBI] 0.000101535
trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet [NCBI] 0.000101535
german syndrome [NCBI] 0.000101535
midface hypoplasia, obesity, developmental delay, and neonatal hypotonia [NCBI] 0.000101535
growth retardation, small and puffy hands and feet, and eczema [NCBI] 0.000101535
radioulnar synostosis, unilateral, with developmental retardation and hypotonia [NCBI] 0.000101535
SLC16A2 [NCBI] 9.95963e-05
BFLS [NCBI] 9.83216e-05
PLOD1 [NCBI] 8.91574e-05
biotinidase deficiency [NCBI] 8.71664e-05
MADD [NCBI] 8.28081e-05
GAMT [NCBI] 8.2369e-05
ZS [NCBI] 8.10423e-05
SGBS1 [NCBI] 8.08418e-05
mental retardation, x-linked, with brachydactyly and macroglossia [NCBI] 7.90933e-05
creases, infra-auricular cutaneous, with tall stature and advanced bone age [NCBI] 7.90933e-05
hyper-beta-alaninemia [NCBI] 7.90933e-05
puerto rican infant hypotonia syndrome [NCBI] 7.90933e-05
PDSS2 [NCBI] 7.82236e-05
DNM1L [NCBI] 7.82236e-05
MTMR4 [NCBI] 7.82236e-05
MTMR7 [NCBI] 7.82236e-05
MTMR6 [NCBI] 7.82236e-05
PEX11B [NCBI] 7.82236e-05
pyruvate decarboxylase deficiency [NCBI] 7.25645e-05
JBTS5 [NCBI] 7.06419e-05
hypotonia-cystinuria syndrome [NCBI] 7.06419e-05
myasthenia, limb-girdle, autoimmune [NCBI] 7.06419e-05
ARTS [NCBI] 7.06419e-05
carbimazole sensitivity [NCBI] 6.51644e-05
sotos syndrome [NCBI] 6.49512e-05
SBF1 [NCBI] 6.44466e-05
SLC25A3 [NCBI] 6.44466e-05
FCMD [NCBI] 6.43976e-05
MPZ [NCBI] 6.18337e-05
3-@methylcrotonyl-coa carboxylase 2 deficiency [NCBI] 6.10993e-05
myasthenia, limb-girdle, familial [NCBI] 6.10993e-05
PTHS [NCBI] 6.10993e-05
MCCC2 [NCBI] 5.92489e-05
PREPL [NCBI] 5.92489e-05
ALG9 [NCBI] 5.92489e-05
phosphorylase kinase deficiency of liver and muscle, autosomal recessive [NCBI] 5.7866e-05
segawa syndrome, autosomal recessive [NCBI] 5.7866e-05
MRXSL [NCBI] 5.7866e-05
fumarase deficiency [NCBI] 5.7866e-05
mevalonic aciduria [NCBI] 5.7866e-05
aromatic l-amino acid decarboxylase deficiency [NCBI] 5.7866e-05
CXORF6 [NCBI] 5.58748e-05
SIX6 [NCBI] 5.58748e-05
CUL4B [NCBI] 5.58748e-05
goldberg-shprintzen megacolon syndrome [NCBI] 5.51824e-05
myopathy, centronuclear, autosomal recessive [NCBI] 5.51824e-05
gtp cyclohydrolase i deficiency [NCBI] 5.51824e-05
marshall-smith syndrome [NCBI] 5.51824e-05
acyl-coa dehydrogenase, long-chain, deficiency of [NCBI] 5.51824e-05
MED12 [NCBI] 5.33669e-05
ATP10A [NCBI] 5.33669e-05
creatine deficiency syndrome, x-linked [NCBI] 5.28895e-05
hyperpipecolatemia [NCBI] 5.28895e-05
WARBM [NCBI] 5.28895e-05
elejalde disease [NCBI] 5.28895e-05
LSFC [NCBI] 5.28895e-05
VLDLRCH [NCBI] 5.08886e-05
chromosome 17q21.31 microdeletion syndrome [NCBI] 4.97082e-05
MLYCD [NCBI] 4.97082e-05
myopathy, myosin storage [NCBI] 4.91145e-05
acyl-coa dehydrogenase, short-chain, deficiency of [NCBI] 4.91145e-05
WNT1 [NCBI] 4.8287e-05
AHI1 [NCBI] 4.8287e-05
PRPS1 [NCBI] 4.8287e-05
d-2-@hydroxyglutaric aciduria [NCBI] 4.75216e-05
PEX12 [NCBI] 4.7045e-05
POMGNT1 [NCBI] 4.7045e-05
trifunctional protein deficiency [NCBI] 4.60767e-05
encephalopathy, neonatal severe, due to mecp2 mutations [NCBI] 4.60767e-05
chromosome 22q13.3 deletion syndrome [NCBI] 4.60767e-05
ATRN [NCBI] 4.59419e-05
GBE1 [NCBI] 4.59419e-05
3-@methylcrotonyl-coa carboxylase 1 deficiency [NCBI] 4.4755e-05
mitochondrial dna depletion syndrome, myopathic form [NCBI] 4.35377e-05
LAMA2 [NCBI] 4.24615e-05
c syndrome [NCBI] 4.24096e-05
stuve-wiedemann syndrome [NCBI] 4.24096e-05
LTC4S [NCBI] 4.17546e-05
HADHA [NCBI] 4.17546e-05
SLC6A8 [NCBI] 4.17546e-05
ACH [NCBI] 4.1649e-05
NFNS [NCBI] 4.13589e-05
mitochondrial dna depletion syndrome, hepatocerebral form [NCBI] 4.13589e-05
AMPD1 [NCBI] 4.10952e-05
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis [NCBI] 4.03759e-05
infantile spasm syndrome, x-linked [NCBI] 4.03759e-05
heterotopia, periventricular, x-linked dominant [NCBI] 4.03759e-05
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to [NCBI] 3.94526e-05
AHDS [NCBI] 3.94526e-05
mulibrey nanism [NCBI] 3.94526e-05
GLDC [NCBI] 3.93472e-05
RPS6KA3 [NCBI] 3.69874e-05
AGS1 [NCBI] 3.69795e-05
MDC1A [NCBI] 3.55319e-05
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency [NCBI] 3.55319e-05
GCDH [NCBI] 3.54398e-05
acyl-coa dehydrogenase, medium-chain, deficiency of [NCBI] 3.48576e-05
glycogen storage disease ixa [NCBI] 3.37978e-05
VWM [NCBI] 3.35951e-05
ACLS [NCBI] 3.35951e-05
SNRPN [NCBI] 3.32117e-05
ASPA [NCBI] 3.2659e-05
GCE [NCBI] 3.24325e-05
hyperglycerolemia [NCBI] 3.24325e-05
MTATP6 [NCBI] 3.18851e-05
ATRX [NCBI] 3.18843e-05
central core disease of muscle [NCBI] 3.18843e-05
glycogen storage disease iv [NCBI] 3.1356e-05
leiomyomatosis and renal cell cancer, hereditary [NCBI] 3.08464e-05
FH [NCBI] 3.05019e-05
niemann-pick disease, type a [NCBI] 3.03542e-05
MSS [NCBI] 3.03542e-05
HRAS [NCBI] 3.00818e-05
PKS [NCBI] 2.98783e-05
MEN2B [NCBI] 2.98783e-05
glycogen storage disease vii [NCBI] 2.94179e-05
RSMD1 [NCBI] 2.89718e-05
mitochondrial complex iv deficiency [NCBI] 2.85394e-05
walker-warburg syndrome [NCBI] 2.65574e-05
cardiofaciocutaneous syndrome [NCBI] 2.65574e-05
GNAS [NCBI] 2.48431e-05
SJS1 [NCBI] 2.48243e-05
hypertrophic neuropathy of dejerine-sottas [NCBI] 2.38817e-05
ADHD [NCBI] 2.35817e-05
costello syndrome [NCBI] 2.24453e-05
RTT [NCBI] 2.18428e-05
BRRS [NCBI] 2.09071e-05
MECP2 [NCBI] 2.0494e-05
GPI [NCBI] 1.75727e-05
WHS [NCBI] 1.50647e-05
glycogen storage disease ii [NCBI] 1.49174e-05
LS [NCBI] 1.4772e-05
MG [NCBI] 1.44376e-05
SMS [NCBI] 1.30413e-05
TH [NCBI] 1.30358e-05
NF1 [NCBI] 1.19982e-05
SLOS [NCBI] 4.64095e-06
ACHE [NCBI] 1.97777e-06
AS [NCBI] 1.49846e-06
CD [NCBI] 5.55029e-07
GFAP [NCBI] 1.4875e-07



Database Center for Life Science