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Diseases
Genes (643)
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TNFRSF1A
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
Langerhans Cell Histiocytosis
ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
FBN1
Ectopia Lentis
Umbilical Hernia
Bronchomalacia
Inguinal Hernia
CLCN7
Osteopetrosis, Autosomal Dominant 2
BRAF
Langerhans Cell Histiocytosis
PQBP1
Renpenning's Syndrome
ACP5
Spondyloenchondrodysplasia With Immune Dysregulation
IFIH1
Singleton Merten Syndrome
ADAMTSL4
Ectopia Lentis
RB1
Pinealoblastoma
Trilateral Retinoblastoma
TGFBR2
Inguinal Hernia
IFNG
Langerhans Cell Histiocytosis
Osteopetrosis, Autosomal Dominant 2
Obliterative Bronchiolitis
TNFSF11
Langerhans Cell Histiocytosis
Osteopetrosis, Autosomal Dominant 2
DDX58
Singleton Merten Syndrome
FERMT3
Osteopetrosis, Autosomal Dominant 2
PORCN
Ectopia Lentis
Duodenal Atresia
Inguinal Hernia
NKX2-1
Neuroendocrine Cell Hyperplasia Of Infancy
APOB
Familial Isolated Vitamin E Deficiency