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: 222546
Gene Symbol: RFX6
RFX6
regulatory factor X6 0.686 0.385 4.1E-04
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 2014 2014
Entrez Id: 641
Gene Symbol: BLM
BLM
BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
sodium channel epithelial 1 subunit gamma 0.633 0.577 0.48
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 56246
Gene Symbol: MRAP
MRAP
melanocortin 2 receptor accessory protein 0.674 0.500 2.1E-03
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 56262
Gene Symbol: LRRC8A
LRRC8A
leucine rich repeat containing 8 VRAC subunit A 0.644 0.692 0.94
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 5651
Gene Symbol: TMPRSS15
TMPRSS15
transmembrane serine protease 15 0.751 0.385 4.6E-32
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
sodium channel epithelial 1 subunit beta 0.628 0.577 5.8E-08
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
recombination activating 1 0.509 0.769 2.8E-05
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 5788
Gene Symbol: PTPRC
PTPRC
protein tyrosine phosphatase receptor type C 0.435 0.808 1.00
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
recombination activating 2 0.507 0.769 2.0E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 55739
Gene Symbol: NAXD
NAXD
NAD(P)HX dehydratase 0.839 0.231 7.0E-03
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
solute carrier family 39 member 4 0.628 0.692 3.1E-04
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
forkhead box P3 0.368 0.846 0.99
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C0011991
Disease: Diarrhea
Diarrhea
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: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 4902
Gene Symbol: NRTN
NRTN
neurturin 0.686 0.538 3.0E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 4689
Gene Symbol: NCF4
NCF4
neutrophil cytosolic factor 4 0.644 0.615 9.0E-08
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
MYD88 innate immune signal transduction adaptor 0.414 0.923 0.12
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 4598
Gene Symbol: MVK
MVK
mevalonate kinase 0.576 0.731 0.17
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
secretion associated Ras related GTPase 1B 0.686 0.462 2.3E-03
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 51604
Gene Symbol: PIGT
PIGT
phosphatidylinositol glycan anchor biosynthesis class T 0.633 0.615 7.3E-10
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0