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Diseases
Genes (1166)
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FBN1
Shprintzen-Goldberg Syndrome
Polycystic Kidney Disease, Autosomal Dominant
Hereditary Transthyretin Amyloidosis
Marfan Syndrome
PKD1
Polycystic Kidney Disease, Autosomal Dominant
Polycystic Kidney Disease, Autosomal Recessive
Marfan Syndrome
PKD2
Polycystic Kidney Disease, Autosomal Dominant
Polycystic Kidney Disease, Autosomal Recessive
PORCN
Omphalocele
Focal Dermal Hypoplasia
PKHD1
Polycystic Kidney Disease, Autosomal Dominant
Polycystic Kidney Disease, Autosomal Recessive
TTR
Hereditary Transthyretin Amyloidosis
Fabry Disease
GLA
Fabry Disease
ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
SLC12A6
Andermann Syndrome
CREBBP
Rubinstein-Taybi Syndrome
DZIP1L
Polycystic Kidney Disease, Autosomal Recessive
SKI
Shprintzen-Goldberg Syndrome
Polycystic Kidney Disease, Autosomal Dominant
TP63
Bladder Exstrophy
Omphalocele
TTN
Salih Myopathy
ENPP1
Generalized Arterial Calcification Of Infancy
COL4A3
Alport Syndrome
COL4A5
Alport Syndrome
GANAB
Polycystic Kidney Disease, Autosomal Dominant
TGFBR2
Uterine Rupture
Shprintzen-Goldberg Syndrome
Marfan Syndrome