Association Type
equal
not equal
contains
does not contain
Select
Biomarker
AlteredExpression
GeneticVariation
CausalMutation
GermlineCausalMutation
PosttranslationalModification
Therapeutic
SusceptibilityMutation
ModifyingMutation
Association
NoAssociation
SomaticCausalMutation
GermlineModifyingMutation
GenomicAlterations
FusionGene
ChromosomalRearrangement
Semantic type
equal
not equal
contains
does not contain
Select
Acquired Abnormality
Amino Acid, Peptide, or Protein; Immunologic Factor
Anatomical Abnormality
Body Substance
Cell Component
Cell Function
Cell or Molecular Dysfunction
Classification
Clinical Attribute
Congenital Abnormality
Diagnostic Procedure
Disease or Syndrome
Disease or Syndrome; Anatomical Abnormality
Disease or Syndrome; Congenital Abnormality
Experimental Model of Disease
Finding
Individual Behavior
Injury or Poisoning
Laboratory or Test Result
Laboratory Procedure
Mental or Behavioral Dysfunction
Mental Process
Molecular Function
Neoplastic Process
Neoplastic Process; Experimental Model of Disease
Organ or Tissue Function
Organism Attribute
Organism Function
Pathologic Function
Physiologic Function
Sign or Symptom
Social Behavior
Temporal Concept
Protein Class
equal
not equal
contains
does not contain
is empty
is not empty
Disabled
Disease Class
equal
not equal
contains
does not contain
is empty
is not empty
Select
Animal Diseases
Behavior and Behavior Mechanisms
Cardiovascular Diseases
Chemically-Induced Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Digestive System Diseases
Disorders of Environmental Origin
Endocrine System Diseases
Eye Diseases
Female Urogenital Diseases and Pregnancy Complications
Hemic and Lymphatic Diseases
Immune System Diseases
Infections
Male Urogenital Diseases
Mental Disorders
Musculoskeletal Diseases
Neoplasms
Nervous System Diseases
Nutritional and Metabolic Diseases
Occupational Diseases
Otorhinolaryngologic Diseases
Pathological Conditions, Signs and Symptoms
Respiratory Tract Diseases
Skin and Connective Tissue Diseases
Stomatognathic Diseases
Wounds and Injuries
Type
equal
not equal
Select
phenotype
group
disease
Original DB
equal
not equal
Select
BEFREE
CLINVAR
GWASCAT
GWASDB
UNIPROT
Consequence
equal
not equal
contains
does not contain
is empty
is not empty
Select
intron variant
intergenic variant
regulatory region variant
stop gained
missense variant
non coding transcript exon variant
synonymous variant
5 prime UTR variant
splice donor variant
3 prime UTR variant
mature miRNA variant
frameshift variant
splice acceptor variant
TF binding site variant
splice region variant
start lost
stop lost
inframe deletion
protein altering variant
inframe insertion
coding sequence variant
stop retained variant
upstream gene variant
downstream gene variant
start retained variant