Source: CLINVAR

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: 7703
Gene Symbol: PCGF2
PCGF2
polycomb group ring finger 2 0.579 0.615 0.86
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
protein phosphatase 3 catalytic subunit alpha 0.568 0.769 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
protoporphyrinogen oxidase 0.678 0.500 2.8E-02
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.130 None 1.000 0 1 2000 2019
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
Rho related BTB domain containing 2 0.631 0.615 1.3E-02
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Snf2 related CREBBP activator protein 0.610 0.731 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
thyroid hormone receptor interactor 12 0.678 0.462 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 2
Entrez Id: 7874
Gene Symbol: USP7
USP7
ubiquitin specific peptidase 7 0.538 0.808 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 51322
Gene Symbol: WAC
WAC
WW domain containing adaptor with coiled-coil 0.686 0.615 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1