Panel: DD Gene: SET Disease: SET syndrome

Page navigation

SET

Gene symbol
SET
OMIM MIM
Ensembl stable ID
ENSG00000119335
Synonyms
Location

SET syndrome

Disease ontology accessions

Update disease information

Gene-Disease Attributes

Disease confidence
probable

Edit disease confidence:

Allelic requirement
monoallelic
Mutation consequence summary
loss of function

Edit allelic requirements and mutation consequence:


biallelic
digenic
hemizygous
imprinted
mitochondrial
monoallelic
monoallelic (Y)
mosaic
uncertain
x-linked dominant
x-linked over-dominance

Phenotypes

Organ specificity

  • Brain/Cognition

Edit organ specificity list:


Bone Marrow/Immune
Brain/Cognition
Cancer predisposition
Ear
Endocrine
Endocrine/Metabolic
Eye
Face
GI tract
Genitalia
Hair/Nails
Heart/Cardiovasculature/Lymphatic
Kidney Renal Tract
Liver
Lungs
Multisystem
Musculature
Peripheral nerves
Respiratory tract
Skeleton
Skin
Spinal cord/Peripheral nerves
Teeth & Dentitian

Variants