Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 374654
Gene Symbol: KIF7
KIF7
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 196528
Gene Symbol: ARID2
ARID2
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 6125
Gene Symbol: RPL5
RPL5
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 388650
Gene Symbol: DIPK1A
DIPK1A
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 54453
Gene Symbol: RIN2
RIN2
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 171568
Gene Symbol: POLR3H
POLR3H
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR