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Diseases
Genes (923)
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NSD1
Sotos Syndrome 1
Sotos Syndrome
5q35 Microduplication Syndrome
Weaver Syndrome
Nevo Syndrome
Overgrowth Syndrome
Deletion 5q35
Multiple Abnormalities
NFIX
Sotos Syndrome 1
Sotos Syndrome 2
Overgrowth Syndrome
Marshall–smith Syndrome
PAX6
Aniridia 2
DIS3L2
Aniridia 2
Perlman Syndrome
SETD2
Sotos Syndrome 1
Luscan-Lumish Syndrome
Overgrowth Syndrome
TBX5
Holt–oram Syndrome
FMR1
Fragile X Syndrome
ASL
Argininosuccinic Aciduria
MYO5B
Microvillus Inclusion Disease
SHANK3
Monosomy 22q13.3
PMM2
Pmm2 Deficiency
SIX1
Branchio-Oto-Renal Syndrome
RECQL4
Baller–gerold Syndrome
Multiple Abnormalities
EZH2
Weaver Syndrome
Overgrowth Syndrome
EYA1
Branchio-Oto-Renal Syndrome
TGDS
Catel–manzke Syndrome
Multiple Abnormalities
TRIM44
Aniridia 2
MC2R
Familial Glucocorticoid Deficiency
PIK3CA
Sotos Syndrome 1
Poorly Differentiated Thyroid Cancer
Weaver Syndrome
Fragile X Syndrome
Overgrowth Syndrome
Cholera
Multiple Abnormalities
WT1
Aniridia 2