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Diseases
Genes (2021)
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SALL4
Holt–oram Syndrome
Duane-Radial Ray Syndrome
SCN5A
Enamel-Renal Syndrome
Progressive Familial Heart Block, Type Ia
Progressive Familial Heart Block
RB1
Pinealoblastoma
Trilateral Retinoblastoma
Retinoblastoma
SLC6A19
Hartnup Disease
ASL
Argininosuccinic Aciduria
TBX5
Holt–oram Syndrome
Retinoblastoma
PMM2
Pmm2 Deficiency
PYGM
Glycogen Storage Disease Type V
TTPA
Familial Isolated Vitamin E Deficiency
SGCE
Myoclonic Dystonia
ITGB3
Glanzmann's Thrombasthenia
TNFAIP3
Haploinsufficiency Of A20
TGFBR2
Uterine Rupture
Squamous-Cell Carcinoma Of The Lung
Retinoblastoma
Loeys–dietz Syndrome
TGFBR1
Uterine Rupture
Loeys–dietz Syndrome
PQBP1
Renpenning's Syndrome
ITGA2B
Glanzmann's Thrombasthenia
IFIH1
Singleton Merten Syndrome
NPM1
Acute Promyelocytic Leukemia
Retinoblastoma
RARA
Acute Promyelocytic Leukemia
Retinoblastoma
PRPS1
Arts Syndrome