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Diseases
Genes (443)
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ACO2
Infantile Cerebellar Retinal Degeneration
Infantile Cerebellar-Retinal Degeneration
SOX10
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Unibrow
SLC4A1
Renal Tubular Acidosis, Distal, Autosomal Dominant
CLIC5
Deafness, Autosomal Recessive 103
ALDH5A1
Succinic Semialdehyde Dehydrogenase Deficiency
SRY
Xy Gonadal Dysgenesis
NR5A1
Xy Gonadal Dysgenesis
HIBCH
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
SOX9
Xy Gonadal Dysgenesis
DMRT1
Xy Gonadal Dysgenesis
ZFPM2
Xy Gonadal Dysgenesis
MAP3K1
Xy Gonadal Dysgenesis
DHH
Xy Gonadal Dysgenesis
WT1
Xy Gonadal Dysgenesis
ATP6V0A4
Renal Tubular Acidosis, Distal, Autosomal Dominant
CBX2
Xy Gonadal Dysgenesis
ATP6V1B1
Renal Tubular Acidosis, Distal, Autosomal Dominant
CNTNAP2
Language Disorder
Aura (Symptom)
TERT
Acral Lentiginous Melanoma
GRIN2B
Language Disorder
Unibrow
Aura (Symptom)