Source: ALL

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: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.070 None 0.714 7 0 1994 2013
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
EYA transcriptional coactivator and phosphatase 1 0.531 0.731 0.95
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 1994 2006
Entrez Id: 55143
Gene Symbol: CDCA8
CDCA8
cell division cycle associated 8 0.659 0.500 7.2E-03
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 1994 1994
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
homeobox D13 0.483 0.808 8.6E-03
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
msh homeobox 1 0.525 0.731 0.17
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.100 None 0.978 46 4 1996 2020
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
ribosomal protein S19 0.480 0.846 0.92
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.030 None 1.000 3 0 1996 1997
Entrez Id: 8115
Gene Symbol: TCL1A
TCL1A
T cell leukemia/lymphoma 1A 0.558 0.500 5.7E-10
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 5075
Gene Symbol: PAX1
PAX1
paired box 1 0.593 0.654 0.70
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 1997 2017
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 1440
Gene Symbol: CSF3
CSF3
colony stimulating factor 3 0.377 0.885 0.38
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
pancreatic and duodenal homeobox 1 0.530 0.654 1.8E-02
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.090 None 0.889 9 0 1999 2018
Entrez Id: 2323
Gene Symbol: FLT3LG
FLT3LG
fms related receptor tyrosine kinase 3 ligand 0.564 0.577 0.94
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
paired box 9 0.636 0.538 0.31
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.100 None 0.974 39 3 2001 2018
Entrez Id: 2304
Gene Symbol: FOXE1
FOXE1
forkhead box E1 0.573 0.731 0.79
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 56956
Gene Symbol: LHX9
LHX9
LIM homeobox 9 0.805 0.231 0.98
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
follicle stimulating hormone receptor 0.539 0.654 1.4E-11
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
phosphatidylinositol glycan anchor biosynthesis class A 0.575 0.654 0.96
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1432
Gene Symbol: MAPK14
MAPK14
mitogen-activated protein kinase 14 0.379 0.923 0.37
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 0.500 2 0 2002 2012
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
pyruvate dehydrogenase complex component X 0.595 0.692 9.7E-05
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 7050
Gene Symbol: TGIF1
TGIF1
TGFB induced factor homeobox 1 0.588 0.769 1.0E-02
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 1 2002 2002
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
interferon gamma 0.288 0.962 0.47
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 3586
Gene Symbol: IL10
IL10
interleukin 10 0.281 0.923 5.9E-03
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 7570
Gene Symbol: ZNF22
ZNF22
zinc finger protein 22 0.780 0.192 2.1E-03
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 133060
Gene Symbol: OTOP1
OTOP1
otopetrin 1 1.000 4.8E-24
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2003 2003