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: 11342
Gene Symbol: RNF13
RNF13
ring finger protein 13 0.722 0.346 4.0E-04
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.400 moderate 1.000 0 0 2019 2019
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.400 strong 1.000 0 0 1999 2009
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.400 None 1.000 0 0 2017 2017
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.200 None 0.947 0 0 1990 2019
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.130 None 1.000 0 0 2012 2018
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.130 None 1.000 0 0 2001 2019
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
LEM domain containing 3 0.582 0.731 1.00
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.120 None 0.500 0 0 2009 2009
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
sodium channel epithelial 1 subunit gamma 0.633 0.577 0.48
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.120 None 1.000 0 0 2004 2009
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.120 None 1.000 0 0 2012 2020
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.120 None 1.000 0 0 1991 2018
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
high mobility group AT-hook 2 0.429 0.808 0.87
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.120 None 1.000 0 0 2009 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.120 None 1.000 0 0 2017 2019
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
cytochrome P450 family 11 subfamily B member 2 0.553 0.615 7.1E-19
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.120 None 1.000 0 0 1994 1999
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.120 None 1.000 0 0 2003 2010
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
DNA ligase 4 0.478 0.846 4.2E-06
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.120 None 1.000 0 0 2014 2015
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
secretion associated Ras related GTPase 1B 0.686 0.462 2.3E-03
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.120 None 1.000 0 0 2004 2015
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
deoxyguanosine kinase 0.593 0.500 3.7E-07
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 8694
Gene Symbol: DGAT1
DGAT1
diacylglycerol O-acyltransferase 1 0.621 0.615 1.4E-17
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 4598
Gene Symbol: MVK
MVK
mevalonate kinase 0.576 0.731 0.17
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
arginine vasopressin receptor 2 0.568 0.769 0.56
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.110 None 1.000 0 0 1997 1997
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 7468
Gene Symbol: NSD2
NSD2
nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.110 None 1.000 0 0 2015 2015