Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1 		clusterin associated protein 1 0.805 0.231 4.2E-04
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 1.000 1 2 2017 2017
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR 		thrombospondin type laminin G domain and EAR repeats 0.736 0.385 2.4E-17
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1 		TSPEAR antisense RNA 1 0.821 0.269
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 2
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 1
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7 		protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 2
Entrez Id: 4810
Gene Symbol: NHS
NHS 		NHS actin remodeling regulator 0.466 0.846 1.00
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 1
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		SATB homeobox 2 0.503 0.769 1.00
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 1
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1 		collagen type XVII alpha 1 chain 0.545 0.769 2.3E-27
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		mitofusin 2 0.471 0.846 0.99
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 1