Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["Ciliopathy","Lissencephaly","Congenital brain malformation","Congenital hypoplasia of part of brain","Aplasia of the vermis","Hydranencephaly","Joubert syndrome","Macrogyria","Meckel-gruber syndrome","Microgyria"]
0
[]
11
["Disgenet (Ciliopathy)","Disgenet (Lissencephaly)","Disgenet (Congenital brain malformation)","Disgenet (Congenital hypoplasia of part of brain)","Disgenet (Aplasia of the vermis)","Disgenet (Hydranencephaly)","Orphanet (Joubert syndrome)","Disgenet (Joubert syndrome)","Disgenet (Macrogyria)","Disgenet (Meckel-gruber syndrome)","Disgenet (Microgyria)"]
["Ciliopathy","Lissencephaly","Congenital brain malformation","Congenital hypoplasia of part of brain","Aplasia of the vermis","Hydranencephaly","Joubert syndrome","Macrogyria","Microgyria"]
0
[]
12
["Disgenet (Ciliopathy)","Disgenet (Lissencephaly)","Disgenet (Congenital brain malformation)","Disgenet (Congenital hypoplasia of part of brain)","Disgenet (Aplasia of the vermis)","Disgenet (Hydranencephaly)","Orphanet (Joubert syndrome)","Disgenet (Joubert syndrome)","ClinVar (Joubert syndrome)","HPO (Joubert syndrome)","Disgenet (Macrogyria)","Disgenet (Microgyria)"]
["Lissencephaly","Congenital brain malformation","Congenital hypoplasia of part of brain","Aplasia of the vermis","Hydranencephaly","Joubert syndrome","Macrogyria","Microgyria"]
0
[]
10
["Disgenet (Lissencephaly)","Disgenet (Congenital brain malformation)","Disgenet (Congenital hypoplasia of part of brain)","Disgenet (Aplasia of the vermis)","Disgenet (Hydranencephaly)","Disgenet (Joubert syndrome)","ClinVar (Joubert syndrome)","HPO (Joubert syndrome)","Disgenet (Macrogyria)","Disgenet (Microgyria)"]
["Lissencephaly","Congenital brain malformation","Congenital hypoplasia of part of brain","Aplasia of the vermis","Hydranencephaly","Joubert syndrome","Macrogyria","Meckel-gruber syndrome","Microgyria"]
0
[]
12
["Disgenet (Lissencephaly)","Disgenet (Congenital brain malformation)","Disgenet (Congenital hypoplasia of part of brain)","Disgenet (Aplasia of the vermis)","Disgenet (Hydranencephaly)","Orphanet (Joubert syndrome)","Disgenet (Joubert syndrome)","ClinVar (Joubert syndrome)","HPO (Joubert syndrome)","Disgenet (Macrogyria)","Disgenet (Meckel-gruber syndrome)","Disgenet (Microgyria)"]
["Ciliopathy","Lissencephaly","Congenital brain malformation","Congenital hypoplasia of part of brain","Aplasia of the vermis","Hydranencephaly","Joubert syndrome","Macrogyria","Meckel-gruber syndrome","Microgyria"]
0
[]
14
["Disgenet (Ciliopathy)","Disgenet (Lissencephaly)","Disgenet (Congenital brain malformation)","Disgenet (Congenital hypoplasia of part of brain)","Disgenet (Aplasia of the vermis)","Disgenet (Hydranencephaly)","Orphanet (Joubert syndrome)","Disgenet (Joubert syndrome)","CTD (Joubert syndrome)","ClinVar (Joubert syndrome)","HPO (Joubert syndrome)","Disgenet (Macrogyria)"]
Diseases Linked via Similar GenesDiseases curated for genes most similar to TMEM218 (see Related Genes above), that are NOT already directly curated for TMEM218 itself -- a lead worth checking, not a confirmed association.