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SALL4
- Duane-Radial Ray Syndrome
- Holt–oram Syndrome
NPM1
- Acute Promyelocytic Leukemia
- Acute Myeloblastic Leukemia With Maturation
ENG
- Cholecystitis
- Hereditary Hemorrhagic Telangiectasia
- Pulmonary Embolism
TBX5
- Atrioventricular Block
- Holt–oram Syndrome
ASL
- Argininosuccinic Aciduria
GJA1
- Oculodentodigital Dysplasia
COL6A1
- Bethlem Myopathy
RYR1
- Malignant Hyperthermia Susceptibility
PMM2
- Pmm2 Deficiency
FLT3
- Acute Promyelocytic Leukemia
- Acute Myeloblastic Leukemia With Maturation
KIT
- Acute Promyelocytic Leukemia
- Myasthenia Gravis
- Acute Myeloblastic Leukemia With Maturation
FBN1
- Weill-Marchesani Syndrome
TNFAIP3
- Haploinsufficiency Of A20
- Myasthenia Gravis
SLC17A5
- Salla Disease
ACVRL1
- Cholecystitis
- Hereditary Hemorrhagic Telangiectasia
- Pulmonary Embolism
COL6A3
- Bethlem Myopathy
COL6A2
- Bethlem Myopathy
ADAMTS10
- Weill-Marchesani Syndrome
IFIH1
- Singleton Merten Syndrome
- Myasthenia Gravis
RARA
- Acute Promyelocytic Leukemia
- Acute Myeloblastic Leukemia With Maturation