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: 122961
Gene Symbol: ISCA2
ISCA2
iron-sulfur cluster assembly 2 0.743 0.231 2.4E-08
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
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: 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: 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: 11253
Gene Symbol: MAN1B1
MAN1B1
mannosidase alpha class 1B member 1 0.606 0.577 1.2E-08
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
DExH-box helicase 30 0.722 0.500 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 23111
Gene Symbol: SPART
SPART
spartin 0.588 0.654 3.0E-07
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: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
immunoglobulin mu DNA binding protein 2 0.636 0.615 3.0E-16
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
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: 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: 2517
Gene Symbol: FUCA1
FUCA1
alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
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: 4191
Gene Symbol: MDH2
MDH2
malate dehydrogenase 2 0.595 0.731 6.7E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 2 2017 2017
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
carnitine O-acetyltransferase 0.656 0.577 9.5E-12
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 2 2020 2020
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: 10577
Gene Symbol: NPC2
NPC2
NPC intracellular cholesterol transporter 2 0.612 0.769 1.8E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 2
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 0.656 0.423 1.6E-08
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 2
Entrez Id: 80232
Gene Symbol: WDR26
WDR26
WD repeat domain 26 0.606 0.769 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 2
Entrez Id: 91949
Gene Symbol: COG7
COG7
component of oligomeric golgi complex 7 0.686 0.500 2.6E-07
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 2
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50
translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 2
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