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: 1718
Gene Symbol: DHCR24
DHCR24
24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
3-hydroxyisobutyryl-CoA hydrolase 0.700 0.500 2.6E-13
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
acyl-CoA oxidase 1 0.610 0.731 6.2E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2 0.579 0.808 0.97
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 9508
Gene Symbol: ADAMTS3
ADAMTS3
ADAM metallopeptidase with thrombospondin type 1 motif 3 0.581 0.808 1.0E-10
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3
adenosine deaminase tRNA specific 3 0.736 0.385 5.6E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
AF4/FMR2 family member 2 0.636 0.538 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1
aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
aldolase, fructose-bisphosphate A 0.631 0.615 1.3E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3
ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR
alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 8092
Gene Symbol: ALX1
ALX1
ALX homeobox 1 0.636 0.462 0.18
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 257
Gene Symbol: ALX3
ALX3
ALX homeobox 3 0.578 0.692 1.9E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
ALX homeobox 4 0.560 0.692 0.36
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 286
Gene Symbol: ANK1
ANK1
ankyrin 1 0.540 0.885 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 473
Gene Symbol: RERE
RERE
arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF
ARVCF delta catenin family member 0.540 0.769 5.0E-11
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 1.000 0 0 2012 2015