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: 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: 551
Gene Symbol: AVP
AVP
arginine vasopressin 0.437 0.846 7.4E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 54832
Gene Symbol: VPS13C
VPS13C
vacuolar protein sorting 13 homolog C 0.653 0.346 7.6E-49
CUI: C0011991
Disease: Diarrhea
Diarrhea
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: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 5422
Gene Symbol: POLA1
POLA1
DNA polymerase alpha 1, catalytic subunit 0.653 0.731 1.00
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 5420
Gene Symbol: PODXL
PODXL
podocalyxin like 0.551 0.731 1.0E-03
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
phosphorylase kinase regulatory subunit beta 0.769 0.269 1.6E-21
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
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: 4210
Gene Symbol: MEFV
MEFV
MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0