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: 4175
Gene Symbol: MCM6
MCM6
minichromosome maintenance complex component 6 0.666 0.615 0.98
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 4158
Gene Symbol: MC2R
MC2R
melanocortin 2 receptor 0.582 0.654 3.1E-04
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 3932
Gene Symbol: LCK
LCK
LCK proto-oncogene, Src family tyrosine kinase 0.564 0.769 1.00
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1
potassium inwardly rectifying channel subfamily J member 1 0.619 0.577 4.6E-05
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 374354
Gene Symbol: NHLRC2
NHLRC2
NHL repeat containing 2 0.729 0.346 8.3E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
Janus kinase 3 0.505 0.731 5.9E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
menin 1 0.444 0.808 1.00
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
nuclear receptor subfamily 3 group C member 2 0.469 0.846 0.84
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 4351
Gene Symbol: MPI
MPI
mannose phosphate isomerase 0.585 0.654 1.2E-07
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: 3654
Gene Symbol: IRAK1
IRAK1
interleukin 1 receptor associated kinase 1 0.506 0.808 0.99
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 9829
Gene Symbol: DNAJC6
DNAJC6
DnaJ heat shock protein family (Hsp40) member C6 0.641 0.385 1.00
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 79631
Gene Symbol: EFL1
EFL1
elongation factor like GTPase 1 0.638 0.577 5.1E-08
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
ALG8 alpha-1,3-glucosyltransferase 0.659 0.577 1.2E-08
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
zeta chain of T cell receptor associated protein kinase 70 0.497 0.769 0.88
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0