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Diseases
Genes (701)
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IFT140
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
TTPA
Familial Isolated Vitamin E Deficiency
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
Fg Syndrome
MARS2
Spastic Ataxia 3, Autosomal Recessive
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
NFIA
Brain Malformations With Or Without Urinary Tract Defects
ACTG2
Berdon Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
IFT172
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
ASS1
Citrullinemia Type I
CD55
Protein Losing Enteropathy
PTEN
Thrombophlebitis
Adenoid Cystic Carcinoma
Protein Losing Enteropathy
MYH11
Berdon Syndrome
TP53
Adenoid Cystic Carcinoma