Panel: DD Gene: CERT1 Disease: INTELLECTUAL DISABILITY

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Gene: CERT1

Location
Synonyms
COL4A3BP
OMIM MIM
604677
Ensembl stable ID
ENSG00000113163
Variant information
ClinVar Decipher
Protein information
Decipher

Genome-wide significance
Minimum P-value 4.1E-11 from testing the DDD dataset. Mutatations are considered clustered. Source

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Gene-Disease Attributes

Disease confidence
confirmed
Allelic requirement
monoallelic
Mutation consequence summary
activating

Publications

Phenotypes

Look up phenotypes associated with CERT1 in Decipher

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 and Dentition