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01 Lipid Metabolism, Inborn Errors [NCBI]

Gene


 Gene Link Information
Gain		 01
ABHD5 [NCBI] 0.000170818
ACADM [NCBI] 0.000139721
ACADVL [NCBI] 9.83807e-05
ABCG5 [NCBI] 9.59614e-05
ABCG8 [NCBI] 9.52141e-05
SLC25A20 [NCBI] 7.80784e-05
CPT2 [NCBI] 6.34865e-05
ACADS [NCBI] 6.06707e-05
CETP [NCBI] 4.97771e-05
PNPLA2 [NCBI] 4.21533e-05
HADHA [NCBI] 4.21533e-05
LCAT [NCBI] 2.88074e-05
CYP27A1 [NCBI] 2.80776e-05
EBP [NCBI] 2.76737e-05
ASAH1 [NCBI] 2.62149e-05
LPL [NCBI] 2.43117e-05
ETFA [NCBI] 2.32722e-05
SLC22A5 [NCBI] 2.14481e-05
CPT1A [NCBI] 2.02484e-05
DHCR24 [NCBI] 1.99732e-05
MUT [NCBI] 1.81668e-05
APOB [NCBI] 1.80664e-05
ABCA12 [NCBI] 1.80143e-05
HMGCR [NCBI] 1.74645e-05
NR1H3 [NCBI] 1.59134e-05
SCP2 [NCBI] 1.5494e-05
MTTP [NCBI] 1.54235e-05
GPIHBP1 [NCBI] 1.49085e-05
GLA [NCBI] 1.44575e-05
FABP1 [NCBI] 1.43034e-05
PSAP [NCBI] 1.20696e-05
ACER1 [NCBI] 1.16301e-05
EHHADH [NCBI] 1.16301e-05
ACAD9 [NCBI] 1.16301e-05
SC5DL [NCBI] 1.10469e-05
ACADL [NCBI] 1.06133e-05
ETFDH [NCBI] 1.06133e-05
ACOX1 [NCBI] 9.98055e-06
CPT1B [NCBI] 9.73469e-06
GNPAT [NCBI] 9.73469e-06
ACAT2 [NCBI] 9.32887e-06
MYL3 [NCBI] 9.32887e-06
AGPS [NCBI] 9.00112e-06
MYL2 [NCBI] 8.60375e-06
MC2R [NCBI] 8.48948e-06
ACTC1 [NCBI] 7.63732e-06
SLC16A2 [NCBI] 7.33128e-06
PPARG [NCBI] 7.14619e-06
LBR [NCBI] 7.02462e-06
OXCT2 [NCBI] 6.8472e-06
TPM1 [NCBI] 6.53997e-06
TNNI3 [NCBI] 6.22096e-06
ALDH3A2 [NCBI] 6.19214e-06
MYBPC3 [NCBI] 6.19214e-06
CD36 [NCBI] 5.72178e-06
TNNT2 [NCBI] 5.70034e-06
STAR [NCBI] 5.51879e-06
FABP2 [NCBI] 5.3725e-06
STAT5B [NCBI] 5.25428e-06
MYH7 [NCBI] 5.09881e-06
APOA5 [NCBI] 4.74019e-06
SREBF1 [NCBI] 4.32161e-06
SMN2 [NCBI] 4.24067e-06
APOA1 [NCBI] 4.17199e-06
FABP7 [NCBI] 3.81234e-06
UCP3 [NCBI] 3.40705e-06
HP [NCBI] 3.17708e-06



OMIM


 OMIM Link Information
gain		 01
carnitine deficiency, myopathic [NCBI] 0.00365165
fatty metamorphosis of viscera [NCBI] 0.00259333
ACADM [NCBI] 0.00188259
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency [NCBI] 0.00117025
acyl-coa dehydrogenase, medium-chain, deficiency of [NCBI] 0.000845854
wolman disease [NCBI] 0.000767838
corneal dystrophy, crystalline, of schnyder [NCBI] 0.00059223
CDS [NCBI] 0.000539696
acyl-coa dehydrogenase, very long-chain, deficiency of [NCBI] 0.000521058
SLC25A20 [NCBI] 0.000510076
ACADVL [NCBI] 0.000461907
carnitine palmitoyltransferase ii deficiency, late-onset [NCBI] 0.000387892
lecithin:cholesterol acyltransferase deficiency [NCBI] 0.000370961
cerebrotendinous xanthomatosis [NCBI] 0.000359985
SLOS [NCBI] 0.00035833
CDSP [NCBI] 0.000350145
sitosterolemia [NCBI] 0.000344113
ACADS [NCBI] 0.000343154
acyl-coa dehydrogenase, short-chain, deficiency of [NCBI] 0.000294792
MADD [NCBI] 0.000280888
trifunctional protein deficiency [NCBI] 0.000280135
fabry disease [NCBI] 0.000279379
HADHA [NCBI] 0.000252672
desmosterolosis [NCBI] 0.000235315
LCAT [NCBI] 0.000212597
gm1-gangliosidosis, type i [NCBI] 0.000207046
triglyceride storage disease, type ii [NCBI] 0.000201666
CDPX2 [NCBI] 0.000199294
gm1-gangliosidosis, type ii [NCBI] 0.00018507
ABCG5 [NCBI] 0.000138775
ACADL [NCBI] 0.000138775
EBP [NCBI] 0.000131637
mitochondrial myopathy [NCBI] 0.000128933
carnitine palmitoyltransferase i deficiency [NCBI] 0.000128933
ALD [NCBI] 0.000108131
ABCG8 [NCBI] 0.000105351
lipase, congenital absence of pancreatic [NCBI] 0.000105351
CPT1A [NCBI] 0.000100847
pancreatic insufficiency, combined exocrine [NCBI] 0.000100788
triglyceride storage disease, type i [NCBI] 0.000100788
myopathy with abnormal lipid metabolism [NCBI] 0.000100788
long chain fatty acids, defect in transport of [NCBI] 0.000100788
acyl-coa dehydrogenase family, member 9, deficiency of [NCBI] 0.000100788
bile acid, synthetic defect of [NCBI] 0.000100788
metachromatic leukodystrophy [NCBI] 0.000100125
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency [NCBI] 8.94291e-05
CPT2 [NCBI] 8.33945e-05
TGD [NCBI] 7.84529e-05
hyperlipoproteinemia, type v [NCBI] 7.83471e-05
lipase deficiency, combined [NCBI] 7.83471e-05
SLC22A5 [NCBI] 7.53755e-05
combined saposin deficiency [NCBI] 6.98972e-05
ceroid storage disease [NCBI] 6.98972e-05
ACAT2 [NCBI] 6.93505e-05
ACAD9 [NCBI] 6.93505e-05
CLN3 [NCBI] 6.58504e-05
adrenoleukodystrophy, autosomal neonatal form [NCBI] 6.52529e-05
carnitine palmitoyltransferase ii deficiency, infantile [NCBI] 6.44212e-05
lathosterolosis [NCBI] 6.44212e-05
mucolipidosis ii [NCBI] 6.35305e-05
PSAP [NCBI] 6.17524e-05
bile acid synthesis defect, congenital, 1 [NCBI] 6.03575e-05
peroxisomal acyl-coa oxidase deficiency [NCBI] 5.71257e-05
SC5DL [NCBI] 5.5579e-05
DECR1 [NCBI] 5.5579e-05
NPC1 [NCBI] 5.45195e-05
hydroxyacyl-coa dehydrogenase ii deficiency [NCBI] 5.44435e-05
pancreatic agenesis, congenital [NCBI] 5.21521e-05
ABCA12 [NCBI] 4.70182e-05
ETFA [NCBI] 4.70182e-05
sea-blue histiocyte disease [NCBI] 4.67886e-05
APOB [NCBI] 4.64611e-05
GCCD1 [NCBI] 4.53451e-05
hypercholesterolemia, autosomal dominant [NCBI] 4.53015e-05
DHCR24 [NCBI] 4.45157e-05
RNS [NCBI] 4.4025e-05
congenital hemidysplasia with ichthyosiform erythroderma and limb defects [NCBI] 4.2809e-05
ETFDH [NCBI] 4.25234e-05
APOA5 [NCBI] 4.25234e-05
d-bifunctional protein deficiency [NCBI] 4.16824e-05
MLYCD [NCBI] 4.08681e-05
INAD1 [NCBI] 3.87298e-05
PLOSL [NCBI] 3.70397e-05
LPL [NCBI] 3.63563e-05
ichthyosis congenita, harlequin fetus type [NCBI] 3.62611e-05
propionic acidemia [NCBI] 3.62611e-05
PNPLA2 [NCBI] 3.61317e-05
mucolipidosis iiia [NCBI] 3.55212e-05
ACOX1 [NCBI] 3.5236e-05
SCP2 [NCBI] 3.5236e-05
STAT5B [NCBI] 3.44159e-05
MC2R [NCBI] 3.44159e-05
FED [NCBI] 3.41436e-05
JBS [NCBI] 3.41436e-05
MTP [NCBI] 3.36597e-05
refsum disease [NCBI] 3.35003e-05
MUT [NCBI] 3.23044e-05
IVA [NCBI] 3.22926e-05
sudden infant death syndrome [NCBI] 3.22926e-05
hyperglycerolemia [NCBI] 3.17244e-05
CGL2 [NCBI] 3.11776e-05
LBR [NCBI] 3.05728e-05
niemann-pick disease, type a [NCBI] 2.96519e-05
CHAC [NCBI] 2.74249e-05
mannosidosis, alpha b, lysosomal [NCBI] 2.74249e-05
CVS [NCBI] 2.7019e-05
NPC1 [NCBI] 2.60353e-05
fucosidosis [NCBI] 2.54017e-05
GLB1 [NCBI] 2.48082e-05
hypertrophic neuropathy of dejerine-sottas [NCBI] 2.32042e-05
galactosemia [NCBI] 2.20487e-05
neuraminidase deficiency [NCBI] 2.20487e-05
MYH7 [NCBI] 2.06997e-05
LIPC [NCBI] 2.03395e-05
ABL [NCBI] 2.00078e-05
STAR [NCBI] 1.64143e-05
gaucher disease, type i [NCBI] 1.63669e-05
PPARG [NCBI] 1.61918e-05
IL6 [NCBI] 1.26004e-05
ZS [NCBI] 1.08795e-05
KSS [NCBI] 7.99322e-06
HPS [NCBI] 7.9196e-06
TSD [NCBI] 5.51066e-06
HP [NCBI] 5.17134e-06
PPARA [NCBI] 1.7044e-06
CD [NCBI] 7.90835e-07



Database Center for Life Science