Source: HPO

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: 2182
Gene Symbol: ACSL4
ACSL4
acyl-CoA synthetase long chain family member 4 0.561 0.769 0.98
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 54507
Gene Symbol: ADAMTSL4
ADAMTSL4
ADAMTS like 4 0.656 0.577 2.6E-28
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 176
Gene Symbol: ACAN
ACAN
aggrecan 0.528 0.846 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 178
Gene Symbol: AGL
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening
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: C1858085
Disease: Malar flattening
Malar flattening
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: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
ATPase H+ transporting V0 subunit a2 0.570 0.692 2.6E-11
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1
ATPase H+ transporting V1 subunit E1 0.610 0.769 0.53
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 8815
Gene Symbol: BANF1
BANF1
BAF nuclear assembly factor 1 0.599 0.692 0.65
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 633
Gene Symbol: BGN
BGN
biglycan 0.484 0.808 0.45
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 641
Gene Symbol: BLM
BLM
BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 1009
Gene Symbol: CDH11
CDH11
cadherin 11 0.512 0.808 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
calcium activated nucleotidase 1 0.619 0.731 2.5E-06
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
cathepsin K 0.497 0.808 3.1E-05
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0