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Diseases
Genes (878)
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LIG4
Lig4 Syndrome
Nijmegen Breakage Syndrome
UBR1
Johanson-Blizzard Syndrome
NBN
Nijmegen Breakage Syndrome
EPCAM
Diarrhea 5, With Tufting Enteropathy, Congenital
ZIC3
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Heterotaxy, Visceral, 8, Autosomal
PHF8
Siderius X-Linked Mental Retardation Syndrome
SCN1A
Dravet Syndrome
RFX6
Mitchell-Riley Syndrome
WT1
Meacham Syndrome
Vascular Malformation
ACVR2B
Heterotaxy, Visceral, 8, Autosomal
GALE
Galactose Epimerase Deficiency
INTU
Uterus Didelphys
Short-Rib Thoracic Dysplasia 20 With Polydactyly
NEK9
Lethal Congenital Contracture Syndrome 10
PTEN
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Membranoproliferative Glomerulonephritis
Thymoma, Familial
Nijmegen Breakage Syndrome
Vascular Malformation
POLA1
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
NKX2-5
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
FANCB
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Nijmegen Breakage Syndrome
GLI3
Hypothalamic Hamartomas
MMP21
Heterotaxy, Visceral, 8, Autosomal
CFH
Membranoproliferative Glomerulonephritis