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: 57082
Gene Symbol: KNL1
KNL1
kinetochore scaffold 1 0.644 0.615 0.78
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
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: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 1.000 0 0 2019 2019
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
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: 5913
Gene Symbol: RAPSN
RAPSN
receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5915
Gene Symbol: RARB
RARB
retinoic acid receptor beta 0.478 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5922
Gene Symbol: RASA2
RASA2
RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
RB binding protein 8, endonuclease 0.584 0.808 3.1E-12
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.543 0.731 2.4E-15
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
nucleoporin 107 0.595 0.500 2.6E-09
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12
proteasome 26S subunit, non-ATPase 12 0.578 0.808 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 57211
Gene Symbol: ADGRG6
ADGRG6
adhesion G protein-coupled receptor G6 0.666 0.385 6.6E-05
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 57222
Gene Symbol: ERGIC1
ERGIC1
endoplasmic reticulum-golgi intermediate compartment 1 0.700 0.423 0.65
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5723
Gene Symbol: PSPH
PSPH
phosphoserine phosphatase 0.570 0.808 9.7E-04
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0