Source: HPO

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: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.400 None 1.000 0 0 2009 2009
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.400 None 1.000 0 0 2013 2013
Entrez Id: 57560
Gene Symbol: IFT80
IFT80 		intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.400 None 1.000 0 0 2007 2007
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.400 None 1.000 0 0 2016 2016
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2 		NOP2/Sun RNA methyltransferase 2 0.559 0.846 2.6E-04
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70 		transmembrane protein 70 0.636 0.654 2.9E-02
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 55109
Gene Symbol: AGGF1
AGGF1 		angiogenic factor with G-patch and FHA domains 1 0.650 0.462 2.7E-05
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 55112
Gene Symbol: WDR60
WDR60 		WD repeat domain 60 0.592 0.654 4.3E-12
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		FAD dependent oxidoreductase domain containing 1 0.633 0.462 2.0E-16
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 54790
Gene Symbol: TET2
TET2 		tet methylcytosine dioxygenase 2 0.458 0.808 4.3E-54
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19 		peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11 		NADH:ubiquinone oxidoreductase subunit B11 0.566 0.692 0.80
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9 		exosome component 9 0.705 0.423 1.8E-11
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 0.559 0.654 6.7E-08
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 55750
Gene Symbol: AGK
AGK 		acylglycerol kinase 0.650 0.654 6.0E-09
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 5813
Gene Symbol: PURA
PURA 		purine rich element binding protein A 0.644 0.500 0.94
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0