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Diseases
Genes (1009)
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TTPA
Familial Isolated Vitamin E Deficiency
KMT2A
Wiedemann–steiner Syndrome
LBR
Reynolds Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
DNAAF3
Primary Ciliary Dyskinesia
NGLY1
Ngly1 Deficiency
DRC1
Primary Ciliary Dyskinesia
SMC1A
Wiedemann–steiner Syndrome
Adenoid Cystic Carcinoma
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
SLC26A4
Goitre
TPO
Goitre
ACTG2
Berdon Syndrome
PTEN
Thrombophlebitis
Protein Losing Enteropathy
Adenoid Cystic Carcinoma
Goitre
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
DMPK
Myotonic Dystrophy
DNAI1
Primary Ciliary Dyskinesia
CCDC151
Primary Ciliary Dyskinesia