Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.5.1.12 (biotinidase)
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Human Gene/Protein
biotinidase 16.3
Biotinidase 16.0
holocarboxylase synthetase 14.3
VNN2 13.4
sodium-dependent multivitamin transporter 13.3
BTD 13.2
Holocarboxylase synthetase 13.2
Thyroid stimulating hormone receptor 13.0
EIF2B4 12.7
L12a 12.5
SLC5A6 12.2
GSD IX 12.0
Vanin-1 11.9
SMVT 11.7
GPI-80 11.4
propionyl-CoA carboxylase 10.6
very-long-chain acyl-CoA dehydrogenase 10.5
SLC19A3 10.2
PTMA 10.1
pantetheinase 10.1
MSUD 10.1
galactose-1-phosphate uridyltransferase 10.1
PCCB 10.0
NARP 9.9
pyruvate carboxylase 9.8
liver glycogen phosphorylase 9.7
SPINK5 9.6
monocarboxylate transporter 1 9.6
cholesterol esterase 9.5
medium-chain acyl-CoA dehydrogenase 9.4
K23 9.4
B(0)AT1 9.3
ACC2 9.2
beta-ketothiolase 9.1
LHON 9.0
MCD 8.6
K13 8.5
short-chain acyl-CoA dehydrogenase 8.5
aminoacylase 8.4
long-chain acyl-CoA dehydrogenase 8.4
PKU 8.3
GAN 8.3
Sialidase 8.3
biotin carboxylase 8.2
K18 8.2
methylmalonyl-CoA mutase 8.1
porphobilinogen synthase 8.1
classical) 8.0
oxoglutarate 8.0
Pyruvate carboxylase 7.9
AGL 7.8
acyl-CoA dehydrogenase 7.8
Pyruvate dehydrogenase 7.6
NBS 7.6
PPH 7.5
acetyl-CoA carboxylase 7.5
MC1 7.5
CELL 7.4
IPL 7.4
2-oxoglutarate dehydrogenase 7.3
G6Pase 7.3
ATP7A 7.3
3-hydroxyacyl-CoA dehydrogenase 7.2
histone H2A 7.1
trypsinogen 7.0
MELAS 7.0
alpha-ketoglutarate dehydrogenase 7.0
wts 6.9
MCT1 6.9
X-linked adrenoleukodystrophy 6.9
TPC 6.8
N-acetyl-beta-glucosaminidase 6.8
FRG 6.7
H2A 6.7
pyruvate dehydrogenase 6.7
SAH 6.6
L12 6.6
ABR 6.5
H2B 6.5
DTNB 6.3
more...
Disease
Biotinidase deficiency 16.1
Multiple carboxylase deficiency 15.5
Holocarboxylase synthetase deficiency 14.3
Other metabolic disorders 14.0
Biotin deficiency 13.3
trichoptilosis 13.3
HMG-CoA lyase deficiency 13.0
Organic acidemias 13.0
Trichorrhexis nodosa 12.7
glycinuria 12.3
GSD IX 12.2
Vertebral anomalies 11.6
Staphylococcus aureus meningitis 11.4
Thiamine-responsive megaloblastic anemia 11.0
basal ganglia disease 11.0
Peroxisomal disorders 10.8
Hers 10.7
galactosemia 10.6
maple syrup urine disease 10.3
homocystinuria 10.2
disorders of amino acid metabolism 10.0
Medulla 9.8
HND 9.7
phenylketonuria 9.6
Ohtahara syndrome 9.5
brittle hair 9.5
hypermethioninemia 9.4
Coffin-Siris syndrome 9.4
tyrosinemia 9.4
optic atrophy 9.2
blepharoconjunctivitis 9.1
congenital hypothyroidism 9.1
MCAD deficiency 9.1
PC deficiency 9.0
hyperargininemia 8.9
glutaric aciduria 8.9
Inborn errors of metabolism 8.7
MCD 8.6
Norrie disease 8.6
congenital adrenal hyperplasia 8.6
Wolman disease 8.6
propionic acidemia 8.6
seborrheic dermatitis 8.5
enzyme deficiency 8.5
vitamin B6 deficiency 8.5
metabolic disorder 8.4
Netherton syndrome 8.4
GSD I 8.3
glycogen storage disease 8.3
Congenital hypothyroidism 8.2
Leigh syndrome 8.1
ornithine transcarbamylase deficiency 8.1
methylmalonic acidemia 7.9
Sanfilippo syndrome 7.9
acrodermatitis enteropathica 7.8
Forbes 7.8
developmental delay 7.7
anal atresia 7.6
MPS VI 7.6
aminoaciduria 7.6
vitamin E deficiency 7.5
MELAS 7.4
bezoar 7.3
hypervitaminosis 7.3
Phenylketonuria 7.3
mitochondrial encephalomyopathy 7.3
hypofibrinogenemia 7.2
Miller Fisher syndrome 7.2
juvenile myelomonocytic leukemia 7.2
laryngospasm 7.2
MELAS 7.1
blepharitis 7.1
Waardenburg syndrome 7.1
spastic diplegia 7.1
NBS 7.0
Kearns-Sayre syndrome 7.0
Hurler 6.9
hemoglobinopathies 6.9
MPS II 6.9
lactic acidosis 6.9
more...
Symptom
Spastic paraparesis 11.3
hypotonia 8.3
ketonuria 8.2
paraparesis 8.1
abnormal gait 7.2
hypertonia 7.0
lethargy 6.8
ataxia 6.8
clonus 6.8
consciousness disturbance 6.6
dry skin 6.3
stridor 6.1
seizures 5.3
myoclonus 5.2
hepatosplenomegaly 5.2
tachypnea 5.0
spasticity 4.7
ophthalmoplegia 4.6
dysarthria 4.4
wheezing 4.1
hepatomegaly 3.8
paresis 3.8
anorexia 3.6
vertigo 3.5
weakness 3.4
dystonia 3.3
tremor 3.1
dyspnea 3.1
respiratory distress 3.0
vomiting 2.9
starvation 2.7
erythema 2.6
nausea 1.8
fatigue 0.7
Drug
Ara-A 9.5
Vitamin B12 6.0
PTC 5.5
lysine 5.2
Alanine 4.9
Spectrum 4.3
Spectrum 3.4
THF 3.3
CSF 3.0
vitamin E 2.2
Dermatol 1.1
Enzyme
biotinidase 16.3
holocarboxylase-synthetase 15.7
EC 6.3.4.10 15.3
methylcrotonyl-CoA carboxylase 10.8
propionyl-CoA carboxylase 10.7
pantetheinase 10.5
propionyl-CoA carboxylase 10.5
pyruvate carboxylase 9.8
transcarboxylase 9.5
acyl-CoA dehydrogenase 9.0
cystathionine gamma-synthase 8.8
methylmalonyl-CoA mutase 8.7
uridyltransferase 8.6
acyl-CoA dehydrogenase 7.7
acetyl-CoA carboxylase 7.4
alpha-ketoglutarate dehydrogenase 7.0
3-hydroxyacyl-CoA dehydrogenase 6.9
3-hydroxyacyl-CoA dehydrogenase 6.9
pyruvate dehydrogenase 6.9
pyruvate dehydrogenase 6.9
KAT 6.5
delta-aminolevulinic acid dehydratase 6.5
DOPA decarboxylase 6.3
pyruvate dehydrogenase 6.2
PNGase F 5.7
deaminase 5.6
citrate synthase 4.2
ceruloplasmin 4.0
AST 3.7
AMPK 3.7
lipoprotein lipase 3.5
glucose-6-phosphate dehydrogenase 3.4
succinate dehydrogenase 3.3
cytochrome oxidase 3.2
AMPK 2.7
AMP-activated protein kinase 2.6
peroxidase 2.6
DNA polymerase 2.3
lipase 2.1
trypsin 1.9
aspartate aminotransferase 1.9
alanine aminotransferase 1.6
caspase-3 1.2
ACS 0.0
protein kinase -0.0
Compound
phenylmethanesulfonamide 14.7
Biocytin 12.3
3-hydroxyisovaleric acid 11.9
3-methylcrotonyl-CoA 11.7
Desthiobiotin 11.6
Biotin 11.1
HABA 9.8
PTMA 9.7
4-chloro-1-naphthol 9.2
Ara-A 8.4
TPB 8.3
nonanoic acid 8.2
nonanoic acid 8.2
nonanoic acid 8.2
nonanoic acid 8.1
glutaryl-CoA 7.9
Vigabatrin 7.8
17-OHP 7.7
nonanoic acid 7.5
NBS 7.5
Valproic acid 7.3
5-Aza-2'-deoxycytidine 7.1
SAH 6.7
PABA 6.3
Sialic acid 6.2
DFO 5.9
2-mercaptoethanol 5.9
Lip 5.9
LIN 5.8
Valproic acid 5.6
folinic acid 5.6
CoA 5.6
Cbl 5.5
Pyruvate 5.4
Taurine 5.1
Histone 5.1
A 3 5.0
Neu5Ac 4.9
Alanine 4.9
S-adenosylhomocysteine 4.9
lysine 4.8
PAC 4.8
Serine 4.6
chromate 4.2
thiourea 4.1
aspartic acid 4.0
aspartic acid 3.9
hydroxylamine 3.9
piperazine 3.9
hydroxylamine 3.9
octyl 3.8
octyl 3.8
octyl 3.8
aspartic acid 3.8
diacetate 3.7
aspartic acid 3.7
Lactate 3.6
DTPA 3.5
valine 3.5
DEAE 3.4
cysteine 3.4
benzoic acid 3.4
TSH 3.4
His 3.4
TNM 3.3
chromium 3.2
BCG 3.2
serine 3.1
molybdenum 3.1
isopropanol 3.1
ACTH 3.0
isoleucine 3.0
isoleucine 3.0
acetone 2.9
Neuronal 2.8
sodium chloride 2.8
homocysteine 2.8
alanine 2.8
zinc 2.7
Phe 2.7
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