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: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0013604
Disease: Edema
Edema
phenotype 0.400 None 1.000 0 0 2014 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C0013604
Disease: Edema
Edema
phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 335
Gene Symbol: APOA1
APOA1
apolipoprotein A1 0.429 0.885 5.5E-04
CUI: C0013604
Disease: Edema
Edema
phenotype 0.400 None 1.000 0 0 2011 2011
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP
O-sialoglycoprotein endopeptidase 0.626 0.615 7.1E-08
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 55704
Gene Symbol: CCDC88A
CCDC88A
coiled-coil domain containing 88A 0.610 0.615 1.00
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 567
Gene Symbol: B2M
B2M
beta-2-microglobulin 0.447 0.846 0.56
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
decaprenyl diphosphate synthase subunit 2 0.626 0.577 4.4E-08
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
nucleoporin 107 0.595 0.500 2.6E-09
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 5800
Gene Symbol: PTPRO
PTPRO
protein tyrosine phosphatase receptor type O 0.656 0.423 1.2E-05
CUI: C0013604
Disease: Edema
Edema
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: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 4598
Gene Symbol: MVK
MVK
mevalonate kinase 0.576 0.731 0.17
CUI: C0013604
Disease: Edema
Edema
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: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 4643
Gene Symbol: MYO1E
MYO1E
myosin IE 0.711 0.385 6.8E-05
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 4846
Gene Symbol: NOS3
NOS3
nitric oxide synthase 3 0.378 0.885 6.7E-07
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
NPHS1 adhesion molecule, nephrin 0.597 0.615 2.5E-14
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 51002
Gene Symbol: TPRKB
TPRKB
TP53RK binding protein 0.691 0.385 8.2E-03
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 51021
Gene Symbol: MRPS16
MRPS16
mitochondrial ribosomal protein S16 0.821 0.231 5.8E-02
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
phospholipase C epsilon 1 0.572 0.654 5.7E-11
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 5337
Gene Symbol: PLD1
PLD1
phospholipase D1 0.576 0.731 4.8E-21
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 58484
Gene Symbol: NLRC4
NLRC4
NLR family CARD domain containing 4 0.556 0.769 9.9E-12
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
recombination activating 1 0.509 0.769 2.8E-05
CUI: C0013604
Disease: Edema
Edema
phenotype 0.100 None 0 0