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: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 3
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: 23203
Gene Symbol: PMPCA
PMPCA
peptidase, mitochondrial processing subunit alpha 0.633 0.577 3.4E-11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 2
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: 79228
Gene Symbol: THOC6
THOC6
THO complex 6 0.705 0.577 4.8E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 2
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 1 2016 2016
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: 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: 7482
Gene Symbol: WNT2B
WNT2B
Wnt family member 2B 0.644 0.615 3.8E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.110 None 1.000 1 1 2001 2016
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
diaphanous related formin 1 0.623 0.654 0.92
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: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
cystatin B 0.530 0.692 6.6E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 203068
Gene Symbol: TUBB
TUBB
tubulin beta class I 0.603 0.692 0.98
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 3 2016 2016
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: 2010
Gene Symbol: EMD
EMD
emerin 0.542 0.731 0.93
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 2