Source: INFERRED

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: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
synaptotagmin 1 0.412 0.846 0.60
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 4
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 7490
Gene Symbol: WT1
WT1
WT1 transcription factor 0.422 0.808 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
SET domain containing 2, histone lysine methyltransferase 0.424 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA
endothelin receptor type A 0.426 0.885 0.99
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
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: C0025990
Disease: Micrognathism
Micrognathism
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: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 7039
Gene Symbol: TGFA
TGFA
transforming growth factor alpha 0.432 0.885 0.72
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2003 2003
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
notch receptor 3 0.435 0.808 0.41
CUI: C0025990
Disease: Micrognathism
Micrognathism
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: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0