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Diseases
Genes (1317)
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CLN6
Ceroid Lipofuscinosis, Neuronal, 8
Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant
TPP1
Ceroid Lipofuscinosis, Neuronal, 8
Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant
FGFR2
Cholangiocarcinoma, Susceptibility To
Jackson–weiss Syndrome
CLN3
Ceroid Lipofuscinosis, Neuronal, 8
Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant
TTPA
Familial Isolated Vitamin E Deficiency
Ceroid Lipofuscinosis, Neuronal, 8
FOXP3
Cholangiocarcinoma, Susceptibility To
Ipex Syndrome
SIX1
Branchio-Oto-Renal Syndrome
ABCC9
Cantú Syndrome
Hippocampal Sclerosis
PABPN1
Oculopharyngeal Muscular Dystrophy
MMUT
Methylmalonyl-Coa Mutase Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
SLC2A10
Arterial Tortuosity Syndrome
EYA1
Branchio-Oto-Renal Syndrome
UMOD
Medullary Cystic Kidney Disease
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
FGFR1
Cholangiocarcinoma, Susceptibility To
Jackson–weiss Syndrome
KCNJ8
Cantú Syndrome
Enamel-Renal Syndrome
IFIH1
Hepatitis E
Singleton Merten Syndrome
TP53
Cholangiocarcinoma, Susceptibility To