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: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 6 4 2001 2018
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 3 2 2006 2011
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 2 1 2007 2007
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
solute carrier family 6 member 3 0.453 0.885 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 1 2012 2012
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 2
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 2 1 2012 2015
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.110 None 1.000 1 1 2018 2019
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 2
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
ANTXR cell adhesion molecule 2 0.568 0.808 8.7E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 2
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 3
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 3 2017 2017