Source: ANIMAL_MODELS

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: 8989
Gene Symbol: TRPA1
TRPA1
transient receptor potential cation channel subfamily A member 1 0.546 0.846 7.2E-35
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype 0.200 None 1.000 1 0 2014 2014
Entrez Id: 7099
Gene Symbol: TLR4
TLR4
toll like receptor 4 0.321 0.962 4.6E-09
CUI: C0000880
Disease: Acanthamoeba Keratitis
Acanthamoeba Keratitis
disease 0.220 None 1.000 1 0 2011 2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0001075
Disease: Achlorhydria
Achlorhydria
phenotype 0.200 None 1.000 1 0 2006 2006
Entrez Id: 7031
Gene Symbol: TFF1
TFF1
trefoil factor 1 0.529 0.769 8.9E-04
CUI: C0001075
Disease: Achlorhydria
Achlorhydria
phenotype 0.200 None 1.000 1 0 2001 2001
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 1.000 definitive 0.974 5 0 1994 2020
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.210 None 1.000 2 0 1978 2012
Entrez Id: 200734
Gene Symbol: SPRED2
SPRED2
sprouty related EVH1 domain containing 2 0.711 0.577 2.9E-07
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.210 None 1.000 1 0 2005 2005
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
parathyroid hormone like hormone 0.453 0.846 0.81
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 0.210 None 1.000 1 0 1994 2012
Entrez Id: 11254
Gene Symbol: SLC6A14
SLC6A14
solute carrier family 6 member 14 0.711 0.385 0.56
CUI: C0001122
Disease: Acidosis
Acidosis
phenotype 0.200 None 1.000 1 0 2004 2004
Entrez Id: 133
Gene Symbol: ADM
ADM
adrenomedullin 0.436 0.808 4.1E-02
CUI: C0001122
Disease: Acidosis
Acidosis
phenotype 0.200 None 1.000 1 0 2007 2007
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
carbamoyl-phosphate synthase 1 0.590 0.615 1.1E-09
CUI: C0001122
Disease: Acidosis
Acidosis
phenotype 0.200 None 1.000 1 0 1998 1998
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
cytochrome P450 family 27 subfamily B member 1 0.502 0.769 1.9E-07
CUI: C0001122
Disease: Acidosis
Acidosis
phenotype 0.200 None 1.000 1 0 1982 1982
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
claudin 14 0.705 0.462 1.1E-04
CUI: C0001122
Disease: Acidosis
Acidosis
phenotype 0.200 None 1.000 1 0 2007 2007
Entrez Id: 275
Gene Symbol: AMT
AMT
aminomethyltransferase 0.674 0.692 2.7E-03
CUI: C0001122
Disease: Acidosis
Acidosis
phenotype 0.200 None 1.000 1 0 1985 1985
Entrez Id: 5009
Gene Symbol: OTC
OTC
ornithine carbamoyltransferase 0.565 0.846 0.87
CUI: C0001122
Disease: Acidosis
Acidosis
phenotype 0.200 None 1.000 1 0 1998 1998
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C0001122
Disease: Acidosis
Acidosis
phenotype 0.200 None 1.000 1 0 2003 2003
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
solute carrier family 34 member 1 0.619 0.423 8.9E-27
CUI: C0001122
Disease: Acidosis
Acidosis
phenotype 0.200 None 1.000 1 0 2009 2009
Entrez Id: 4541
Gene Symbol: ND6
ND6
NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.300 None 0 0
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype 0.690 None 1.000 4 0 1996 2013
Entrez Id: 1508
Gene Symbol: CTSB
CTSB
cathepsin B 0.457 0.846 5.9E-11
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype 0.200 None 1.000 1 0 1994 1994
Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
cytochrome P450 family 11 subfamily B member 1 0.563 0.615 8.2E-07
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype 0.200 None 1.000 1 0 2006 2006
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
ATPase H+ transporting V0 subunit a4 0.722 0.385 2.2E-20
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype 0.210 None 1.000 1 0 2012 2018
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
solute carrier family 4 member 4 0.644 0.692 1.00
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype 0.540 None 1.000 1 0 2000 2011
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20
TBC1 domain family member 20 0.621 0.500 0.93
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
disease 0.200 None 1.000 2 0 2004 2013
Entrez Id: 22931
Gene Symbol: RAB18
RAB18
RAB18, member RAS oncogene family 0.582 0.692 0.91
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
disease 0.200 None 1.000 2 0 2014 2015