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6-pyruvoyl-tetrahydropterin synthase deficiency
2,8-Dihydroxyadenine Urolithiasis
17-Hydroxysteroid Dehydrogenase Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
3b-Hydroxysteroid Dehydrogenase Deficiency
3-Methylglutaconic Aciduria, Type I
3-methylcrotonyl CoA carboxylase 1 deficiency
3-Methylglutaconic Aciduria, Type V
5-oxoprolinase deficiency
2-Hydroxyglutaricaciduria
18-Hydroxylase deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
3-methylcrotonyl CoA carboxylase 2 deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
3C syndrome
2,4-Dienoyl-CoA Reductase Deficiency
46, XY Sex Reversal 5
5-Alpha Reductase Deficiency
46, XY Disorders of Sex Development
11 Beta Hydroxylase Deficiency
22q11 Deletion Syndromes
46, XX Testicular Disorders of Sex Development
17,20-Lyase Deficiency, Isolated
3-Oxoacid Coa Transferase Deficiency
6 alpha mercaptopurine sensitivity
46, XX Disorders of Sex Development
17p- Syndrome
15q24 Microdeletion
9q22.3 Microdeletion
46,XY Disorder of Sex Development Due To LH Defects
3-Methylglutaconic Aciduria
46, XY female
4-hydroxyphenylacetic aciduria
46,Xy True Hermaphroditism, Sry-Related
46,XY Sex Reversal 4
3-Methylglutaconic Aciduria Type IV
47 XYY syndrome
3-Hydroxyisobutyric aciduria
6-Phosphogluconolactonase Deficiency
6q24-Related Transient Neonatal Diabetes Mellitus
15q11.2 microdeletion