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MeSH keywords -> Related genes, diseases (OMIM)


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01 Metabolism, Inborn Errors [NCBI]

Gene


 Gene Link Information
Gain		 01
TDD [NCBI] 0.000415947
TRNAL1 [NCBI] 0.000355204
GLUDP5 [NCBI] 0.000297502
ALDH5A1 [NCBI] 0.000240162
FMO3 [NCBI] 0.000159637
GAMT [NCBI] 9.81657e-05
OXCT2 [NCBI] 7.05396e-05
MMACHC [NCBI] 6.59099e-05
GATM [NCBI] 6.41208e-05
NAGS [NCBI] 5.48184e-05
CPT2 [NCBI] 5.27861e-05
GNE [NCBI] 4.96388e-05
ACAT1 [NCBI] 4.75043e-05
PCCB [NCBI] 4.64558e-05
SLC6A8 [NCBI] 4.46817e-05
L2HGDH [NCBI] 4.19837e-05
AGA [NCBI] 3.9246e-05
PCCA [NCBI] 3.7668e-05
PSAP [NCBI] 3.71094e-05
SLC25A15 [NCBI] 3.62349e-05
HMGCL [NCBI] 3.55791e-05
ETFA [NCBI] 3.23017e-05
SLC22A5 [NCBI] 3.14023e-05
MMAA [NCBI] 3.03567e-05
ACADS [NCBI] 2.78605e-05
CTSA [NCBI] 2.7175e-05
GK [NCBI] 2.58487e-05
PROP1 [NCBI] 2.46663e-05
MVK [NCBI] 2.4409e-05
MUT [NCBI] 2.4164e-05
HSD11B2 [NCBI] 2.3835e-05
MOCS2 [NCBI] 2.15301e-05
MLYCD [NCBI] 2.15301e-05
CYP21A2 [NCBI] 2.13229e-05
FAH [NCBI] 2.11818e-05
CYP27A1 [NCBI] 2.10435e-05
ETFB [NCBI] 2.05136e-05
DMGDH [NCBI] 2.05136e-05
ETFDH [NCBI] 2.05136e-05
PRSS7 [NCBI] 1.97347e-05
MPO [NCBI] 1.89265e-05
ADA [NCBI] 1.85969e-05
TALDO1 [NCBI] 1.85694e-05
MOCS1 [NCBI] 1.73409e-05
CPS1 [NCBI] 1.73409e-05
MAT1A [NCBI] 1.70134e-05
BCS1L [NCBI] 1.70134e-05
GLUD1 [NCBI] 1.67146e-05
DLD [NCBI] 1.67146e-05
SPR [NCBI] 1.67146e-05
COMMD1 [NCBI] 1.59492e-05
GLDC [NCBI] 1.53247e-05
HADHA [NCBI] 1.49642e-05
ACADM [NCBI] 1.49642e-05
CYP11B2 [NCBI] 1.49584e-05
TPO [NCBI] 1.44177e-05
C2orf25 [NCBI] 1.31426e-05
RPIA [NCBI] 1.31426e-05
OTC [NCBI] 1.30535e-05
SLC26A3 [NCBI] 1.30535e-05
PMM2 [NCBI] 1.29575e-05
CYP19A1 [NCBI] 1.23066e-05
SLC25A13 [NCBI] 1.22747e-05
SLC22A12 [NCBI] 1.15171e-05
NAGA [NCBI] 1.13961e-05
COMMD5 [NCBI] 1.07629e-05
ALDH1A3 [NCBI] 1.07629e-05
XPNPEP1 [NCBI] 1.07629e-05
ATP6V1H [NCBI] 1.07629e-05
ALDH3B1 [NCBI] 1.07629e-05
AFM [NCBI] 1.07629e-05
ARSF [NCBI] 1.07629e-05
SLC37A4 [NCBI] 1.05593e-05
GH1 [NCBI] 1.02087e-05
SLC5A5 [NCBI] 1.01451e-05
PIGM [NCBI] 9.86522e-06
EDEM1 [NCBI] 9.86522e-06
HIBADH [NCBI] 9.86522e-06
NDUFAF2 [NCBI] 9.86522e-06
ABAT [NCBI] 9.28254e-06
TREH [NCBI] 9.28254e-06
MC4R [NCBI] 9.09117e-06
APRT [NCBI] 8.91836e-06
ACY1 [NCBI] 8.84948e-06
NDUFA8 [NCBI] 8.84948e-06
ACAD8 [NCBI] 8.84948e-06
FTCD [NCBI] 8.50453e-06
D2HGDH [NCBI] 8.50453e-06
BTD [NCBI] 8.50453e-06
ACD [NCBI] 8.50453e-06
NDUFS1 [NCBI] 8.50453e-06
ACP2 [NCBI] 8.50453e-06
IVD [NCBI] 8.50453e-06
CBS [NCBI] 8.23799e-06
ALG12 [NCBI] 8.21781e-06
MDH2 [NCBI] 8.21781e-06
MCEE [NCBI] 8.21781e-06
PXMP3 [NCBI] 8.21781e-06
AUH [NCBI] 8.21781e-06
MTR [NCBI] 7.97646e-06
SUOX [NCBI] 7.97247e-06
HADH [NCBI] 7.97247e-06
NDUFS2 [NCBI] 7.75807e-06
RENBP [NCBI] 7.75807e-06
BOLL [NCBI] 7.75807e-06
PDHB [NCBI] 7.75807e-06
ALG3 [NCBI] 7.75807e-06
GCDH [NCBI] 7.5677e-06
MPV17 [NCBI] 7.5677e-06
NDUFS7 [NCBI] 7.5677e-06
NDUFS4 [NCBI] 7.5677e-06
ETHE1 [NCBI] 7.5677e-06
SLC25A20 [NCBI] 7.5677e-06
ATIC [NCBI] 7.39651e-06
HAGH [NCBI] 7.39651e-06
HNF4A [NCBI] 7.36904e-06
HLCS [NCBI] 7.241e-06
SLC30A4 [NCBI] 7.241e-06
GSS [NCBI] 7.241e-06
NDUFV1 [NCBI] 7.241e-06
SCO1 [NCBI] 7.09855e-06
ASL [NCBI] 7.09855e-06
MLPH [NCBI] 7.09855e-06
CYP17A1 [NCBI] 7.05713e-06
HYAL1 [NCBI] 6.96714e-06
SDHA [NCBI] 6.96714e-06
ADSL [NCBI] 6.96714e-06
OPA3 [NCBI] 6.84519e-06
GAN [NCBI] 6.84519e-06
PHKA2 [NCBI] 6.84519e-06
CYP7B1 [NCBI] 6.73145e-06
TK2 [NCBI] 6.73145e-06
ALG6 [NCBI] 6.73145e-06
PTS [NCBI] 6.62487e-06
ACADVL [NCBI] 6.52461e-06
SUMF1 [NCBI] 6.52461e-06
ITPA [NCBI] 6.42998e-06
MPI [NCBI] 6.42998e-06
SERPINA6 [NCBI] 6.42998e-06
PEPD [NCBI] 6.34037e-06
GNMT [NCBI] 6.25529e-06
CBLB [NCBI] 6.09704e-06
NP [NCBI] 6.09704e-06
PCBD1 [NCBI] 6.09704e-06
GCLC [NCBI] 6.02317e-06
SCO2 [NCBI] 5.88452e-06
ZMPSTE24 [NCBI] 5.88452e-06
STOM [NCBI] 5.88452e-06
G6PD [NCBI] 5.7766e-06
TRPM6 [NCBI] 5.69595e-06
AGXT [NCBI] 5.69595e-06
FOXE1 [NCBI] 5.63754e-06
XPNPEP2 [NCBI] 5.5811e-06
MX1 [NCBI] 5.52651e-06
PHYH [NCBI] 5.52651e-06
BHMT [NCBI] 5.47365e-06
SDHC [NCBI] 5.42242e-06
NMB [NCBI] 5.37273e-06
IDUA [NCBI] 5.37273e-06
HSD17B4 [NCBI] 5.37273e-06
CA2 [NCBI] 5.27758e-06
PKLR [NCBI] 5.27758e-06
PAH [NCBI] 5.23473e-06
PRM1 [NCBI] 5.23198e-06
PGK1 [NCBI] 5.23198e-06
HESX1 [NCBI] 5.1876e-06
SFTPB [NCBI] 5.06118e-06
SFTPC [NCBI] 5.02111e-06
PRM2 [NCBI] 5.02111e-06
DDC [NCBI] 4.98198e-06
ABCG5 [NCBI] 4.94377e-06
THRB [NCBI] 4.90642e-06
ATP8B1 [NCBI] 4.8699e-06
ABCA3 [NCBI] 4.83417e-06
RAB27A [NCBI] 4.76498e-06
LMAN1 [NCBI] 4.76498e-06
TNXB [NCBI] 4.73145e-06
SLC2A1 [NCBI] 4.66018e-06
FH [NCBI] 4.63479e-06
OAT [NCBI] 4.6038e-06
PC [NCBI] 4.6038e-06
HAMP [NCBI] 4.51423e-06
HPRT1 [NCBI] 4.48543e-06
IL12RB1 [NCBI] 4.45714e-06
ALDH3A2 [NCBI] 4.45714e-06
SLC26A4 [NCBI] 4.24702e-06
DPYD [NCBI] 4.22258e-06
HES1 [NCBI] 4.12838e-06
ABCB11 [NCBI] 4.0612e-06
HSD11B1 [NCBI] 4.0612e-06
SDHB [NCBI] 3.91464e-06
TPMT [NCBI] 3.91464e-06
SDHD [NCBI] 3.79897e-06
PCSK9 [NCBI] 3.78049e-06
PLP1 [NCBI] 3.74416e-06
VKORC1 [NCBI] 3.70866e-06
CCL3 [NCBI] 3.70866e-06
CHAT [NCBI] 3.58189e-06
SERPING1 [NCBI] 3.49569e-06
ABCC6 [NCBI] 3.46537e-06
AGXT2L1 [NCBI] 3.36371e-06
PAX8 [NCBI] 3.17864e-06
MB [NCBI] 3.15395e-06
HDC [NCBI] 3.14175e-06
FGB [NCBI] 3.14175e-06
BCHE [NCBI] 3.12965e-06
CDC25A [NCBI] 3.04759e-06
TAT [NCBI] 3.01375e-06
CETP [NCBI] 2.86882e-06
ENPP1 [NCBI] 2.83533e-06
CASR [NCBI] 2.76773e-06
LEPR [NCBI] 2.74897e-06
GPX1 [NCBI] 2.69412e-06
DMD [NCBI] 2.64995e-06
TRH [NCBI] 2.26142e-06
IGF2 [NCBI] 2.12021e-06
LMNA [NCBI] 2.09668e-06
CYBB [NCBI] 2.07357e-06
FXN [NCBI] 2.0565e-06
AFP [NCBI] 1.81466e-06
UGT1A1 [NCBI] 1.7871e-06
ACHE [NCBI] 1.69753e-06
LPL [NCBI] 1.6698e-06
MTHFR [NCBI] 1.63893e-06
ERCC2 [NCBI] 1.49216e-06
LEP [NCBI] 1.40291e-06
FOLR1 [NCBI] 1.3898e-06
MECP2 [NCBI] 1.37041e-06
UMOD [NCBI] 1.29615e-06
HMOX1 [NCBI] 1.29019e-06
NAT2 [NCBI] 1.19644e-06
FGFR3 [NCBI] 1.19102e-06
APOB [NCBI] 8.31123e-07
PTHLH [NCBI] 4.98562e-07
SNCA [NCBI] 4.69768e-07
TG [NCBI] 3.17027e-07
CCK [NCBI] 3.10772e-07
TH [NCBI] 1.97039e-07
AVP [NCBI] 1.6552e-07
APOE [NCBI] 8.04029e-08
MBP [NCBI] 5.55666e-08
PTH [NCBI] 5.50314e-09
AR [NCBI] 1.37754e-09



OMIM


 OMIM Link Information
gain		 01
methylmalonic aciduria and homocystinuria, cblf type [NCBI] 0.00320672
cerebrohepatorenal syndrome, variant types [NCBI] 0.00178935
prostaglandin-endoperoxide synthase deficiency [NCBI] 0.00148964
carnosinemia [NCBI] 0.00126183
thyroid hormonogenesis, genetic defect in, 4 [NCBI] 0.00119096
RA [NCBI] 0.00119082
hyperphosphatasia with mental retardation [NCBI] 0.000892148
ethanolaminosis [NCBI] 0.000892148
adenosine triphosphatase deficiency, anemia due to [NCBI] 0.000892148
vitamin a metabolic defect [NCBI] 0.000892148
TDD [NCBI] 0.000892148
amobarbital, deficient n-hydroxylation of [NCBI] 0.000892148
TMAU [NCBI] 0.000851081
MADD [NCBI] 0.000764176
FMO3 [NCBI] 0.000688098
3-@hydroxyisobutyric aciduria [NCBI] 0.00067472
MENOQ1 [NCBI] 0.00067472
ACADM [NCBI] 0.000571369
corticosterone methyloxidase type ii deficiency [NCBI] 0.000560731
gangliosidosis, gm2, type iii, or juvenile type [NCBI] 0.000540093
hyperoxaluria, primary, type i [NCBI] 0.000518241
zinc, elevated plasma [NCBI] 0.000500899
EFMR [NCBI] 0.000500899
methylmalonic aciduria and homocystinuria, cbld type [NCBI] 0.000500899
sialuria, finnish type [NCBI] 0.000480379
cholestasis-lymphedema syndrome [NCBI] 0.000469773
methylmalonic aciduria and homocystinuria, cblc type [NCBI] 0.000444566
myopathy with deficiency of succinate dehydrogenase and aconitase [NCBI] 0.000443979
fatty metamorphosis of viscera [NCBI] 0.000421973
succinic semialdehyde dehydrogenase deficiency [NCBI] 0.00041269
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to [NCBI] 0.000404488
formiminotransferase deficiency [NCBI] 0.000404184
acetabular dysplasia [NCBI] 0.000402801
folic acid, transport defect involving [NCBI] 0.000402801
geleophysic dysplasia [NCBI] 0.000385828
diarrhea 2, with microvillous atrophy [NCBI] 0.000370612
biotinidase deficiency [NCBI] 0.00034506
spondyloenchondrodysplasia [NCBI] 0.000344248
succinyl-coa:3-oxoacid coa transferase deficiency [NCBI] 0.000315423
propionic acidemia [NCBI] 0.000310529
GAMT [NCBI] 0.000291881
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency [NCBI] 0.000291191
sialuria [NCBI] 0.000287625
PI [NCBI] 0.000285188
IVA [NCBI] 0.000282845
molybdenum cofactor deficiency [NCBI] 0.000267193
MSD [NCBI] 0.000258429
ornithine transcarbamylase deficiency, hyperammonemia due to [NCBI] 0.000252572
lactic acidosis, fatal infantile [NCBI] 0.000252269
holocarboxylase synthetase deficiency [NCBI] 0.000251021
glutathione synthetase deficiency [NCBI] 0.000233226
CYP11B2 [NCBI] 0.000231366
d-2-@hydroxyglutaric aciduria [NCBI] 0.000225525
infantile sialic acid storage disorder [NCBI] 0.000219472
mitochondrial complex i deficiency [NCBI] 0.000216302
IVD [NCBI] 0.000212805
aspartylglucosaminuria [NCBI] 0.000201701
xanthinuria, type i [NCBI] 0.000196971
ETFDH [NCBI] 0.000196948
hypophosphatasia, infantile [NCBI] 0.000192488
encephalopathy, ethylmalonic [NCBI] 0.000189149
mevalonic aciduria [NCBI] 0.000189149
enterokinase deficiency [NCBI] 0.000179158
nephrosialidosis [NCBI] 0.000179158
sulfocysteinuria [NCBI] 0.000179158
ZS [NCBI] 0.000175358
VEGF [NCBI] 0.000173913
bile acid synthesis defect, congenital, 2 [NCBI] 0.000170939
methylmalonic aciduria, cblb type [NCBI] 0.000170843
methylmalonic aciduria, cbla type [NCBI] 0.000163952
myeloperoxidase deficiency [NCBI] 0.000163952
GCDH [NCBI] 0.000163652
CPT2 [NCBI] 0.000155336
GPI [NCBI] 0.000151099
GPX1 [NCBI] 0.000145742
HOMG [NCBI] 0.000143309
MOCS1 [NCBI] 0.000142709
PCCB [NCBI] 0.000140454
deoxyribose-5-phosphate aldolase deficiency [NCBI] 0.000139971
hyperphenylalaninemia with primapterinuria [NCBI] 0.000139971
udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase [NCBI] 0.000138059
TPI1 [NCBI] 0.000138059
AK1 [NCBI] 0.000131652
transcobalamin ii deficiency [NCBI] 0.000129733
acyl-coa dehydrogenase, very long-chain, deficiency of [NCBI] 0.000129063
phosphoribosylpyrophosphate synthetase superactivity [NCBI] 0.000129063
pyruvate decarboxylase deficiency [NCBI] 0.000127865
pyruvate kinase deficiency of red cells [NCBI] 0.000127865
GH1 [NCBI] 0.000127513
glutaric acidemia i [NCBI] 0.000123311
diarrhea 1, secretory chloride, congenital [NCBI] 0.000120686
alkaline phosphatase, elevated serum [NCBI] 0.000117379
MMAA [NCBI] 0.000117379
DMGDH [NCBI] 0.000117379
peroxidase and phospholipid deficiency in eosinophils [NCBI] 0.000116544
bile acid synthesis defect, congenital, 4 [NCBI] 0.000116544
neuraminidase deficiency [NCBI] 0.000116015
CSID [NCBI] 0.000113613
pyruvate carboxylase deficiency [NCBI] 0.000113613
SLC26A3 [NCBI] 0.00011225
PCCA [NCBI] 0.00010927
MAT1A [NCBI] 0.00010927
PGK1 [NCBI] 0.000108665
GCE [NCBI] 0.000103848
hyperglycerolemia [NCBI] 0.000103848
neuraminidase deficiency with beta-galactosidase deficiency [NCBI] 0.000103624
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to [NCBI] 0.000103372
glycogen storage disease 0, liver [NCBI] 0.000103372
DLD [NCBI] 0.000101815
LTC4S [NCBI] 0.000101815
SLC6A8 [NCBI] 0.000101815
MUT [NCBI] 9.97031e-05
PRSS7 [NCBI] 9.84241e-05
GRTH [NCBI] 9.84173e-05
mitochondrial myopathy with diabetes [NCBI] 9.84173e-05
l-2-hydroxyglutaric aciduria [NCBI] 9.84173e-05
hyperpipecolatemia [NCBI] 9.84173e-05
adenylosuccinase deficiency [NCBI] 9.84173e-05
HPRT1 [NCBI] 9.69621e-05
methylcobalamin deficiency, cblg type [NCBI] 9.41454e-05
BCHE [NCBI] 9.29808e-05
mitochondrial complex iv deficiency [NCBI] 9.16735e-05
3-@hydroxy-3-methylglutaryl-coa lyase deficiency [NCBI] 9.09791e-05
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity [NCBI] 9.03664e-05
ETFB [NCBI] 8.98719e-05
ETFA [NCBI] 8.98719e-05
gracile syndrome [NCBI] 8.70471e-05
MTHFR [NCBI] 8.59383e-05
corticosterone methyloxidase type i deficiency [NCBI] 8.54038e-05
ribose 5-phosphate isomerase deficiency [NCBI] 8.54038e-05
acid phosphatase deficiency [NCBI] 8.54038e-05
glycoprotein storage disease [NCBI] 8.54038e-05
pseudocholinesterase, increase in plasma level of [NCBI] 8.54038e-05
metachromasia of fibroblasts [NCBI] 8.54038e-05
FMO2 [NCBI] 8.54038e-05
aicar transformylase/imp cyclohydrolase, deficiency of [NCBI] 8.54038e-05
hemosiderosis, pulmonary, with deficiency of gamma-a globulin [NCBI] 8.54038e-05
DMGDHD [NCBI] 8.54038e-05
transaldolase deficiency [NCBI] 8.54038e-05
methemoglobin reductase deficiency [NCBI] 8.54038e-05
pancreatic insufficiency, combined exocrine [NCBI] 8.54038e-05
isobutyryl-coa dehydrogenase deficiency [NCBI] 8.54038e-05
APRT [NCBI] 8.42002e-05
fructose-1,6-bisphosphatase deficiency [NCBI] 8.4031e-05
ACAT1 [NCBI] 8.40094e-05
OXCT1 [NCBI] 8.40094e-05
lipase, congenital absence of pancreatic [NCBI] 8.40094e-05
PCK2 [NCBI] 8.40094e-05
cystathioninuria [NCBI] 8.12863e-05
methionine adenosyltransferase deficiency [NCBI] 8.12863e-05
3-@methylcrotonyl-coa carboxylase 1 deficiency [NCBI] 8.12863e-05
3-@methylglutaconic aciduria, type i [NCBI] 8.12863e-05
KLK3 [NCBI] 7.88294e-05
gm1-gangliosidosis, type ii [NCBI] 7.87691e-05
CEACAM5 [NCBI] 7.79111e-05
glycogen storage disease ixa [NCBI] 7.69834e-05
17-@beta hydroxysteroid dehydrogenase iii deficiency [NCBI] 7.64455e-05
MLYCD [NCBI] 7.58841e-05
coenzyme q10 deficiency [NCBI] 7.42886e-05
aceruloplasminemia [NCBI] 7.42886e-05
lipoid congenital adrenal hyperplasia [NCBI] 7.42886e-05
CPS1 [NCBI] 7.28217e-05
MTHFD1 [NCBI] 7.28217e-05
CYP19A1 [NCBI] 7.27221e-05
PTH [NCBI] 7.27022e-05
galactose epimerase deficiency [NCBI] 7.22767e-05
galactokinase deficiency [NCBI] 7.22767e-05
hypophosphatasia, adult type [NCBI] 6.86206e-05
HAE [NCBI] 6.79823e-05
PXMP3 [NCBI] 6.78524e-05
adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency [NCBI] 6.69494e-05
thyroid hormonogenesis, genetic defect in, 2a [NCBI] 6.69494e-05
THRB [NCBI] 6.57681e-05
gilbert syndrome [NCBI] 6.38688e-05
methemoglobinemia due to deficiency of methemoglobin reductase [NCBI] 6.34145e-05
methylmalonic aciduria, cblh type [NCBI] 6.30148e-05
cerebrocortical degeneration of infancy [NCBI] 6.30148e-05
carnitine acetyltransferase deficiency [NCBI] 6.30148e-05
mitochondrial myopathy with lactic acidosis [NCBI] 6.30148e-05
hyaluronidase deficiency [NCBI] 6.30148e-05
pancreatic beta cell agenesis with neonatal diabetes mellitus [NCBI] 6.30148e-05
hyaluronan metabolism, defect in [NCBI] 6.30148e-05
paralysis agitans, juvenile, of hunt [NCBI] 6.30148e-05
blue diaper syndrome [NCBI] 6.30148e-05
3-@methylglutaconic aciduria, type iv [NCBI] 6.30148e-05
hirsutism--skeletal dysplasia--mental retardation syndrome [NCBI] 6.30148e-05
glutamyl ribose-5-phosphate storage disease [NCBI] 6.30148e-05
CYP7B1 [NCBI] 5.86771e-05
HAGH [NCBI] 5.86771e-05
mmachc gene [NCBI] 5.86771e-05
ATIC [NCBI] 5.86771e-05
RPIA [NCBI] 5.86771e-05
GK [NCBI] 5.78327e-05
LYZ [NCBI] 5.78327e-05
farber lipogranulomatosis [NCBI] 5.78327e-05
histidinemia [NCBI] 5.73576e-05
orotic aciduria i [NCBI] 5.65749e-05
SLC25A20 [NCBI] 5.65749e-05
cortisol 11-beta-ketoreductase deficiency [NCBI] 5.52191e-05
hypoproteinemia, hypercatabolic [NCBI] 5.46163e-05
orotic aciduria ii [NCBI] 5.46163e-05
myopathy with storage of glycoproteins and glycosaminoglycans [NCBI] 5.46163e-05
malonyl-coa decarboxylase deficiency [NCBI] 5.46163e-05
3-@hydroxyacyl-coa dehydrogenase deficiency [NCBI] 5.46163e-05
aminoadipic aciduria [NCBI] 5.46163e-05
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus [NCBI] 5.46163e-05
adenosine triphosphate, elevated, of erythrocytes [NCBI] 5.46163e-05
zinc in breast milk, reduced [NCBI] 5.46163e-05
aminoacylase 1 deficiency [NCBI] 5.46163e-05
SLC22A5 [NCBI] 5.42847e-05
GLDC [NCBI] 5.42847e-05
citrullinemia, classic [NCBI] 5.40661e-05
PTS [NCBI] 5.22422e-05
MVK [NCBI] 5.22422e-05
PEPD [NCBI] 5.22422e-05
megaloblastic anemia 1 [NCBI] 5.11239e-05
OCRL [NCBI] 5.02094e-05
CDSP [NCBI] 5.02094e-05
ACADS [NCBI] 4.95428e-05
glycogen storage disease ii [NCBI] 4.9427e-05
lathosterolosis [NCBI] 4.91916e-05
carnitine palmitoyltransferase ii deficiency, infantile [NCBI] 4.91916e-05
AME2 [NCBI] 4.91916e-05
glutamate monosodium sensitivity [NCBI] 4.91916e-05
CDG1G [NCBI] 4.91916e-05
LS [NCBI] 4.89759e-05
vitamin d-dependent rickets, type ii [NCBI] 4.76381e-05
growth hormone insensitivity syndrome [NCBI] 4.6833e-05
homocarnosinosis [NCBI] 4.51793e-05
cortisone reductase deficiency [NCBI] 4.51793e-05
3-@methylcrotonyl-coa carboxylase 2 deficiency [NCBI] 4.51793e-05
glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to [NCBI] 4.51793e-05
CDG1D [NCBI] 4.51793e-05
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly [NCBI] 4.51793e-05
SCO1 [NCBI] 4.49235e-05
BOLL [NCBI] 4.49235e-05
TALDO1 [NCBI] 4.49235e-05
ABAT [NCBI] 4.49235e-05
XPNPEP1 [NCBI] 4.49235e-05
hypertension-related calcium-regulated gene [NCBI] 4.49235e-05
DPYD [NCBI] 4.3218e-05
CYP17A1 [NCBI] 4.20665e-05
hyperoxaluria, primary, type ii [NCBI] 4.19988e-05
BJS [NCBI] 4.19988e-05
peroxisomal acyl-coa oxidase deficiency [NCBI] 4.19988e-05
myoclonus and ataxia [NCBI] 4.19988e-05
azoospermia due to perturbations of meiosis [NCBI] 4.19988e-05
creatine phosphokinase, elevated serum [NCBI] 4.19988e-05
aromatic l-amino acid decarboxylase deficiency [NCBI] 4.19988e-05
segawa syndrome, autosomal recessive [NCBI] 4.19988e-05
PRTH [NCBI] 4.19988e-05
PSAP [NCBI] 4.0984e-05
TREH [NCBI] 3.97492e-05
ETHE1 [NCBI] 3.97492e-05
L2HGDH [NCBI] 3.97492e-05
alpha-ketoglutarate dehydrogenase deficiency [NCBI] 3.97492e-05
diphosphoglycerate mutase deficiency of erythrocyte [NCBI] 3.97492e-05
congenital disorder of glycosylation, type i/iix [NCBI] 3.9368e-05
3-@methylglutaconic aciduria, type iii [NCBI] 3.9368e-05
n-acetylglutamate synthase deficiency [NCBI] 3.9368e-05
gtp cyclohydrolase i deficiency [NCBI] 3.9368e-05
acyl-coa dehydrogenase, long-chain, deficiency of [NCBI] 3.9368e-05
LEP [NCBI] 3.76674e-05
wolman disease [NCBI] 3.76404e-05
SCZD1 [NCBI] 3.71279e-05
carnitine palmitoyltransferase i deficiency [NCBI] 3.71279e-05
carnitine palmitoyltransferase ii deficiency, lethal neonatal [NCBI] 3.71279e-05
creatine deficiency syndrome, x-linked [NCBI] 3.71279e-05
HYAL1 [NCBI] 3.63985e-05
ALG12 [NCBI] 3.63985e-05
SLC30A4 [NCBI] 3.63985e-05
SLC22A12 [NCBI] 3.63985e-05
TRPM6 [NCBI] 3.63985e-05
BTD [NCBI] 3.63985e-05
HMGCS2 [NCBI] 3.63985e-05
mucolipidosis ii [NCBI] 3.54816e-05
alpha-methylacetoacetic aciduria [NCBI] 3.518e-05
OGD [NCBI] 3.518e-05
CDG2A [NCBI] 3.518e-05
winchester syndrome [NCBI] 3.518e-05
FTCD [NCBI] 3.3914e-05
NDUFS4 [NCBI] 3.3914e-05
ALG3 [NCBI] 3.3914e-05
ALDH5A1 [NCBI] 3.3914e-05
GCSH [NCBI] 3.3914e-05
G6PD [NCBI] 3.3499e-05
hexokinase deficiency hemolytic anemia [NCBI] 3.34587e-05
hydrops-ectopic calcification-moth-eaten skeletal dysplasia [NCBI] 3.34587e-05
hyperprolinemia, type ii [NCBI] 3.34587e-05
dentinogenesis imperfecta, shields type iii [NCBI] 3.34587e-05
HHF6 [NCBI] 3.34587e-05
hyperferritinemia-cataract syndrome [NCBI] 3.34587e-05
acyl-coa dehydrogenase, short-chain, deficiency of [NCBI] 3.34587e-05
TPO [NCBI] 3.21031e-05
HADH [NCBI] 3.19395e-05
CPT1A [NCBI] 3.19395e-05
CTLN2 [NCBI] 3.19186e-05
sea-blue histiocyte disease [NCBI] 3.19186e-05
hypouricemia, renal [NCBI] 3.19186e-05
growth hormone insensitivity with immunodeficiency [NCBI] 3.19186e-05
thiopurine s-methyltransferase deficiency [NCBI] 3.19186e-05
maple syrup urine disease [NCBI] 3.13193e-05
wagr syndrome [NCBI] 3.05265e-05
crigler-najjar syndrome, type ii [NCBI] 3.05265e-05
CDC25A [NCBI] 3.03021e-05
NAGS [NCBI] 3.03021e-05
MTR [NCBI] 3.03021e-05
ACY1 [NCBI] 3.03021e-05
tyrosinemia, type i [NCBI] 2.97444e-05
MERRF [NCBI] 2.92577e-05
HLCS [NCBI] 2.89043e-05
IL12RB1 [NCBI] 2.89043e-05
LDHB [NCBI] 2.89043e-05
GSS [NCBI] 2.89043e-05
ACACA [NCBI] 2.89043e-05
BCS1L [NCBI] 2.89043e-05
ALDOA [NCBI] 2.89043e-05
PEX6 [NCBI] 2.89043e-05
HESX1 [NCBI] 2.89043e-05
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency [NCBI] 2.85385e-05
mitochondrial dna depletion syndrome, myopathic form [NCBI] 2.80932e-05
HOMG3 [NCBI] 2.80932e-05
pulmonary alveolar microlithiasis [NCBI] 2.80932e-05
congenital hemidysplasia with ichthyosiform erythroderma and limb defects [NCBI] 2.80932e-05
hemochromatosis, neonatal [NCBI] 2.80932e-05
ADSL [NCBI] 2.76856e-05
LARGE [NCBI] 2.76856e-05
d-bifunctional protein deficiency [NCBI] 2.70179e-05
CCKAR [NCBI] 2.6606e-05
AMT [NCBI] 2.6606e-05
LAMP2 [NCBI] 2.6606e-05
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency [NCBI] 2.64696e-05
CDG2C [NCBI] 2.60201e-05
vitamin d-dependent rickets, type i [NCBI] 2.60201e-05
pituitary dwarfism iii [NCBI] 2.60201e-05
mitochondrial dna depletion syndrome, hepatocerebral form [NCBI] 2.60201e-05
paget disease, juvenile [NCBI] 2.60201e-05
ichthyosis, x-linked [NCBI] 2.56484e-05
CA2 [NCBI] 2.56374e-05
SLS [NCBI] 2.54207e-05
MCDC1 [NCBI] 2.50899e-05
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis [NCBI] 2.50899e-05
PFKM [NCBI] 2.47596e-05
GHRHR [NCBI] 2.47596e-05
septooptic dysplasia [NCBI] 2.42194e-05
SPR [NCBI] 2.39574e-05
ASL [NCBI] 2.39574e-05
AR [NCBI] 2.32874e-05
GLUD1 [NCBI] 2.32192e-05
3-@beta-hydroxysteroid dehydrogenase, type ii, deficiency of [NCBI] 2.32192e-05
AGXT [NCBI] 2.32192e-05
ACADVL [NCBI] 2.32192e-05
danon disease [NCBI] 2.26321e-05
hartnup disorder [NCBI] 2.26321e-05
HADHA [NCBI] 2.25357e-05
ADA [NCBI] 2.19737e-05
ichthyosis congenita, harlequin fetus type [NCBI] 2.19049e-05
bladder cancer [NCBI] 2.19049e-05
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [NCBI] 2.19049e-05
gm1-gangliosidosis, type iii [NCBI] 2.19049e-05
SLC5A5 [NCBI] 2.18996e-05
homocystinuria [NCBI] 2.12492e-05
diabetes insipidus, neurohypophyseal type [NCBI] 2.12163e-05
GNMT [NCBI] 2.07472e-05
G6PT1 [NCBI] 2.07472e-05
tyrosine transaminase deficiency [NCBI] 2.07472e-05
THRA [NCBI] 2.07472e-05
PWS [NCBI] 2.06089e-05
argininemia [NCBI] 2.05629e-05
NBIA1 [NCBI] 2.05629e-05
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency [NCBI] 2.05629e-05
CD [NCBI] 2.00057e-05
JBS [NCBI] 1.99415e-05
PROP1 [NCBI] 1.97255e-05
ehlers-danlos syndrome, type vi [NCBI] 1.93495e-05
SPTB [NCBI] 1.88091e-05
XK [NCBI] 1.88091e-05
TBG [NCBI] 1.88091e-05
OTC [NCBI] 1.88091e-05
CLN1 [NCBI] 1.87846e-05
AEZ [NCBI] 1.87846e-05
MBP [NCBI] 1.86687e-05
ALMS [NCBI] 1.82446e-05
refsum disease, infantile form [NCBI] 1.82446e-05
PRSS1 [NCBI] 1.79791e-05
mucopolysaccharidosis type iiia [NCBI] 1.77278e-05
lecithin:cholesterol acyltransferase deficiency [NCBI] 1.77278e-05
OPTB1 [NCBI] 1.77278e-05
phenylketonuria ii [NCBI] 1.75919e-05
SLOS [NCBI] 1.70985e-05
CFNS [NCBI] 1.67569e-05
complement component 2 deficiency [NCBI] 1.6525e-05
EPHX1 [NCBI] 1.6525e-05
leiomyomatosis and renal cell cancer, hereditary [NCBI] 1.63002e-05
fabry disease [NCBI] 1.59944e-05
IGF2 [NCBI] 1.58814e-05
LAD [NCBI] 1.58608e-05
MSS [NCBI] 1.58608e-05
AHC [NCBI] 1.58608e-05
NMB [NCBI] 1.55771e-05
mucopolysaccharidosis type vii [NCBI] 1.54378e-05
EFE [NCBI] 1.54378e-05
gm1-gangliosidosis, type i [NCBI] 1.54378e-05
DDC [NCBI] 1.52836e-05
PKLR [NCBI] 1.52836e-05
fucosidosis [NCBI] 1.52836e-05
HNFJ [NCBI] 1.50302e-05
glycogen storage disease vii [NCBI] 1.50302e-05
MTTK [NCBI] 1.5e-05
ALAD [NCBI] 1.5e-05
GSR [NCBI] 1.47259e-05
NP [NCBI] 1.44607e-05
glycogen storage disease v [NCBI] 1.42574e-05
SLC2A2 [NCBI] 1.39548e-05
mannosidosis, alpha b, lysosomal [NCBI] 1.38908e-05
CDPX2 [NCBI] 1.38908e-05
SLC26A4 [NCBI] 1.37132e-05
ITGB2 [NCBI] 1.37132e-05
STK11 [NCBI] 1.30297e-05
TH [NCBI] 1.25315e-05
FH [NCBI] 1.20083e-05
MC4R [NCBI] 1.20083e-05
COH1 [NCBI] 1.19256e-05
DMPK [NCBI] 1.18193e-05
TPMT [NCBI] 1.1635e-05
BTHS [NCBI] 1.16322e-05
AMACR [NCBI] 1.1455e-05
AFP [NCBI] 1.12769e-05
INS [NCBI] 1.08417e-05
PC [NCBI] 1.07759e-05
KSS [NCBI] 1.06271e-05
AVP [NCBI] 1.04582e-05
CDG1A [NCBI] 1.02868e-05
CP [NCBI] 9.73376e-06
ABCC8 [NCBI] 9.44752e-06
ABCD1 [NCBI] 9.05558e-06
PDS [NCBI] 8.89813e-06
CCK [NCBI] 8.88845e-06
CMT1B [NCBI] 8.48127e-06
IDUA [NCBI] 8.44924e-06
TG [NCBI] 8.13037e-06
LEPR [NCBI] 8.00166e-06
MHS1 [NCBI] 7.70717e-06
IGFALS [NCBI] 7.38464e-06
GRP [NCBI] 7.09795e-06
leber optic atrophy [NCBI] 7.01641e-06
HEXA [NCBI] 7.00536e-06
LNS [NCBI] 6.67648e-06
MYOC [NCBI] 5.99665e-06
MPO [NCBI] 5.69468e-06
NPC1 [NCBI] 5.50462e-06
SERPINA6 [NCBI] 5.48373e-06
metachromatic leukodystrophy [NCBI] 5.37218e-06
INSR [NCBI] 5.2785e-06
LPI [NCBI] 5.24259e-06
CGD [NCBI] 4.52084e-06
CASR [NCBI] 4.30975e-06
MB [NCBI] 4.30975e-06
menkes disease [NCBI] 4.0882e-06
HDC [NCBI] 4.04478e-06
ACHE [NCBI] 3.91124e-06
MUC1 [NCBI] 3.30335e-06
WT1 [NCBI] 3.06863e-06
AHO [NCBI] 2.90693e-06
LPL [NCBI] 2.89432e-06
AS [NCBI] 2.77969e-06
RTT [NCBI] 2.69218e-06
CAT [NCBI] 2.39764e-06
ALD [NCBI] 2.15598e-06
APOB [NCBI] 1.10153e-06
phenylketonuria [NCBI] 1.00747e-06
DHFR [NCBI] 5.38281e-07
dystrophia myotonica 1 [NCBI] 3.22182e-07
PXE [NCBI] 2.52269e-07
CHAT [NCBI] 2.02666e-07
HP [NCBI] 1.09876e-07
XDH [NCBI] 6.54062e-08
TSD [NCBI] 1.73827e-10



Database Center for Life Science