Source: ORPHANET

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: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism
disease 0.800 None 1.000 1 0 2009 2020
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3
disease 0.760 None 1.000 1 0 2008 2014
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
Scapuloperoneal Form of Spinal Muscular Atrophy
disease 0.740 None 1.000 1 0 2003 2017
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism
disease 0.730 None 1.000 1 0 2010 2012
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
disease 0.710 None 1.000 1 0 2010 2010
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
Digital Arthropathy-Brachydactyly, Familial
disease 0.710 None 1.000 1 0 2011 2019
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
disease 0.700 None 1.000 1 0 2010 2012
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
phenotype 0.500 None 1.000 1 0 2016 2016
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
disease 0.400 None 1.000 1 0 2016 2016
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
disease 0.300 None 1.000 1 0 2016 2016