Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.100 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.100 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586

2015
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.100 CausalMutation CLINVAR

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.100 CausalMutation CLINVAR

Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.100 GeneticVariation CLINVAR

Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.100 CausalMutation CLINVAR

Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.100 CausalMutation CLINVAR

Entrez Id: 6909
Gene Symbol: TBX2
TBX2
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.100 CausalMutation CLINVAR

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.100 CausalMutation CLINVAR

Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.100 GeneticVariation CLINVAR