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: 29072
Gene Symbol: SETD2
SETD2
SET domain containing 2, histone lysine methyltransferase 0.424 0.846 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
high mobility group AT-hook 2 0.429 0.808 0.87
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A
Wnt family member 5A 0.443 0.808 0.99
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
dicer 1, ribonuclease III 0.446 0.846 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
parathyroid hormone like hormone 0.453 0.846 0.81
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.458 0.923 6.1E-10
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 10013
Gene Symbol: HDAC6
HDAC6
histone deacetylase 6 0.465 0.846 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
FA complementation group B 0.468 0.769 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 2313
Gene Symbol: FLI1
FLI1
Fli-1 proto-oncogene, ETS transcription factor 0.468 0.692 0.99
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR
lamin B receptor 0.473 0.808 0.18
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 50964
Gene Symbol: SOST
SOST
sclerostin 0.474 0.808 0.87
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.476 0.769 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 0