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Diseases
Genes (1289)
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SLC26A4
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Pendred Syndrome
FOXI1
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Pendred Syndrome
BEST1
Macular Dystrophy, Vitelliform, 3
Retinitis Pigmentosa 17
PMM2
Pmm2 Deficiency
Retinitis Pigmentosa 17
KCNE2
Long Qt Syndrome 13
Atrial Fibrillation, Familial, 11
Atrial Fibrillation, Familial, 4
WRN
Werner Syndrome
ABHD5
Neutral Lipid Storage Disease
PRPH2
Macular Dystrophy, Vitelliform, 3
Retinitis Pigmentosa 17
ASL
Argininosuccinic Aciduria
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
SLC40A1
Hemochromatosis Type 4
FMR1
Fragile X-Associated Tremor/ataxia Syndrome
Renpenning's Syndrome
PAX3
Waardenburg Syndrome Type I
KCNJ10
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Pendred Syndrome
IMPG2
Macular Dystrophy, Vitelliform, 3
Retinitis Pigmentosa 17
C8orf37
Retinitis Pigmentosa 17
PDE6B
Retinitis Pigmentosa 17
PDE6A
Retinitis Pigmentosa 17
PQBP1
Renpenning's Syndrome
SLC2A1
Glucose Transporter Type 1 Deficiency Syndrome
Werner Syndrome
Retinitis Pigmentosa 17