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: 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: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
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
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
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: 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: 54496
Gene Symbol: PRMT7
PRMT7
protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
FAM20C golgi associated secretory pathway kinase 0.578 0.731 0.31
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
SIX homeobox 3 0.560 0.692 0.95
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 6469
Gene Symbol: SHH
SHH
sonic hedgehog signaling molecule 0.461 0.846 0.98
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: 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: 6239
Gene Symbol: RREB1
RREB1
ras responsive element binding protein 1 0.500 0.808 1.00
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: 5831
Gene Symbol: PYCR1
PYCR1
pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
nectin cell adhesion molecule 1 0.523 0.808 6.1E-02
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: 5449
Gene Symbol: POU1F1
POU1F1
POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 5447
Gene Symbol: POR
POR
cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 51109
Gene Symbol: RDH11
RDH11
retinol dehydrogenase 11 0.769 0.346 1.1E-07
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0