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: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.475 0.690 1.00
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 2 0 2015 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase, non-receptor type 11 0.429 0.828 1.00
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 2 0 2015 2018
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2
iron-sulfur cluster assembly 2 0.834 0.172 1.1E-06
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 1 0 2015 2015
Entrez Id: 64097
Gene Symbol: EPB41L4A
EPB41L4A
erythrocyte membrane protein band 4.1 like 4A 0.928 0.138 4.1E-21
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 1 0 2015 2015
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.552 0.586 8.9E-42
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 1 0 2015 2015
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
peptidase, mitochondrial processing alpha subunit 0.727 0.379 2.6E-11
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 1 0 2016 2016
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
immunoglobulin mu binding protein 2 0.672 0.517 2.6E-16
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 1 0 2015 2015
Entrez Id: 23111
Gene Symbol: SPART
SPART
spartin 0.645 0.586
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 1 0 2015 2015
Entrez Id: 6651
Gene Symbol: SON
SON
SON DNA binding protein 0.652 0.552 1.00
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 1 0 2017 2017
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.541 0.759 0.99
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 1 0 2015 2015
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
diaphanous related formin 1 0.659 0.517 0.98
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 1 0 2015 2015
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.645 0.483 1.00
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 1 0 2017 2017
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
SET binding protein 1 0.558 0.655 1.00
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 0.663 0.414 1.9E-13
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.565 0.690 1.00
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0
Entrez Id: 23530
Gene Symbol: NNT
NNT
nicotinamide nucleotide transhydrogenase 0.720 0.241 0.99
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
ATPase H+ transporting V0 subunit a2 0.584 0.621 2.7E-11
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.656 0.448 6.2E-03
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL, cohesin loading factor 0.557 0.690 1.00
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
LEM domain containing 3 0.639 0.379 1.00
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
mitochondrial tRNA translation optimization 1 0.636 0.345 6.9E-06
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0
Entrez Id: 23594
Gene Symbol: ORC6
ORC6
origin recognition complex subunit 6 0.636 0.517 4.7E-07
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR
alpha-methylacyl-CoA racemase 0.536 0.655 1.9E-02
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0
Entrez Id: 23636
Gene Symbol: NUP62
NUP62
nucleoporin 62 0.567 0.690 0.95
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0
Entrez Id: 23483
Gene Symbol: TGDS
TGDS
TDP-glucose 4,6-dehydratase 0.685 0.483 1.3E-08
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype 0.100 0 0