Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 GeneticVariation CLINVAR Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 28679688

2017
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 GeneticVariation CLINVAR

Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 CausalMutation CLINVAR

Entrez Id: 4810
Gene Symbol: NHS
NHS
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 GeneticVariation CLINVAR

Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 CausalMutation CLINVAR

Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 CausalMutation CLINVAR

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 CausalMutation CLINVAR

Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 GeneticVariation CLINVAR

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 CausalMutation CLINVAR

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 CausalMutation CLINVAR

Entrez Id: 23314
Gene Symbol: SATB2
SATB2
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 CausalMutation CLINVAR