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: 10020
Gene Symbol: GNE
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
muscle associated receptor tyrosine kinase 0.570 0.769 4.2E-08
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
discoidin domain receptor tyrosine kinase 2 0.541 0.769 0.55
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1
dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 5286
Gene Symbol: PIK3C2A
PIK3C2A
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha 0.633 0.692 1.0E-02
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
FAM20C golgi associated secretory pathway kinase 0.578 0.731 0.31
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 6628
Gene Symbol: SNRPB
SNRPB
small nuclear ribonucleoprotein polypeptides B and B1 0.595 0.731 0.71
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410
cilia and flagella associated protein 410 0.633 0.615 3.3E-07
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7
solute carrier family 10 member 7 0.711 0.269 2.0E-05
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
matrilin 3 0.644 0.385 1.4E-08
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
hydroxysteroid 17-beta dehydrogenase 4 0.546 0.654 2.4E-10
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 112752
Gene Symbol: IFT43
IFT43
intraflagellar transport 43 0.617 0.577 1.8E-11
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 168667
Gene Symbol: BMPER
BMPER
BMP binding endothelial regulator 0.641 0.577 6.6E-07
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 202018
Gene Symbol: TAPT1
TAPT1
transmembrane anterior posterior transformation 1 0.674 0.538 3.2E-02
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.458 0.923 6.1E-10
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
intraflagellar transport 172 0.582 0.654 3.3E-33
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease 0.100 None 0 0