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Diseases
Genes (1849)
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BEST1
Sensorineural Hearing Loss
Vitelliform Macular Dystrophy
BMPR1A
Juvenile Polyposis Syndrome
Protein Losing Enteropathy
SMAD4
Juvenile Polyposis Syndrome
Congenital Contractural Arachnodactyly
FBN2
Congenital Contractural Arachnodactyly
SPTB
Hereditary Spherocytosis
Spherocytosis, Type 3
WDR45
Epileptic Encephalopathy, Early Infantile, 60
Neurodegeneration With Brain Iron Accumulation
SLC4A1
Sensorineural Hearing Loss
Hereditary Spherocytosis
Spherocytosis, Type 3
Congenital Contractural Arachnodactyly
MED12
Sensorineural Hearing Loss
Fg Syndrome
EPB42
Hereditary Spherocytosis
Spherocytosis, Type 3
TRNL1
Sensorineural Hearing Loss
Epileptic Encephalopathy, Early Infantile, 60
Merrf Syndrome
SLC17A5
Salla Disease
GJB2
Sensorineural Hearing Loss
SLC26A4
Sensorineural Hearing Loss
SLC2A10
Arterial Tortuosity Syndrome
TRNF
Sensorineural Hearing Loss
Merrf Syndrome
TRNP
Sensorineural Hearing Loss
Merrf Syndrome
ANK1
Hereditary Spherocytosis
Spherocytosis, Type 3
IFIH1
Singleton Merten Syndrome
TRNK
Sensorineural Hearing Loss
Epileptic Encephalopathy, Early Infantile, 60
Merrf Syndrome
ALB
Membranoproliferative Glomerulonephritis
Aseptic Meningitis
Protein Losing Enteropathy
Congenital Contractural Arachnodactyly