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: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 1.000 2 2 2017 2017
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 84294
Gene Symbol: UTP23
UTP23
UTP23 small subunit processome component 0.711 0.385 8.6E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6
tubulin beta 6 class V 0.686 0.462 1.7E-04
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
solute carrier family 20 member 2 0.638 0.577 0.97
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C4317146
Disease: Acid reflux
Acid reflux
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: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 3
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 2
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
dynein axonemal heavy chain 11 0.587 0.692 2.5E-58
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 2
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A
actin like 6A 0.678 0.346 1.00
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
ubiquitin like modifier activating enzyme 5 0.582 0.731 2.5E-04
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 2
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
ALG8 alpha-1,3-glucosyltransferase 0.659 0.577 1.2E-08
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
polycomb group ring finger 2 0.579 0.615 0.86
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype 0.100 None 0 2