Search results for 4a-Carbinolamine tetrahydrobiopterin

22 hits were found for 4a-Carbinolamine tetrahydrobiopterin

# Family MCID Name MIFTS Score
1
TTR005 Tetrahydrobiopterin Deficiency 49 47.623
2
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 32 26.328
3
P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 44 21.914
4
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 59 21.156
5
c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 35 19.860
6
HYP141 Hyperphenylalaninemia 42 16.084
7
PHN003 Phenylketonuria 76 15.237
8
MLD011 Mild Hyperphenylalaninemia 24 5.836
9
P DYS154 Dystonia 64 5.358
10
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 57 4.106
11
CLS049 Classic Phenylketonuria 34 4.045
12
GTP002 Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia 17 3.598
13
P PRK039 Parkinsonism 55 3.202
14
DYS192 Dystonia, Dopa-Responsive 56 3.061
15
PLY028 Polycystic Bone Disease 17 2.570
16
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 2.557
17
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 2.557
18
P MVM001 Movement Disease 61 2.415
19
P HYP265 Hypotonia 42 2.221
20
c INH020 Inherited Metabolic Disorder 47 2.171
21
SGW002 Segawa Syndrome, Autosomal Recessive 44 1.928
22
HLX001 Helix Syndrome 47 0.383
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