Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 GeneticVariation CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961

2014
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 CausalMutation CLINVAR

Entrez Id: 91869
Gene Symbol: RFT1
RFT1
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 GeneticVariation CLINVAR

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 CausalMutation CLINVAR

Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 CausalMutation CLINVAR

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 CausalMutation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 CausalMutation CLINVAR

Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 CausalMutation CLINVAR

Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 CausalMutation CLINVAR