Source: ALL

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: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation 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: 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: 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: 171568
Gene Symbol: POLR3H
POLR3H
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker HPO

Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker HPO

Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker HPO

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

Entrez Id: 8813
Gene Symbol: DPM1
DPM1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker HPO

Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker HPO

Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker HPO

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

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker HPO

Entrez Id: 545
Gene Symbol: ATR
ATR
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker HPO

Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker HPO