Source: UNIPROT

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 5 14 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: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		disease 0.760 None 0.857 3 10 2009 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: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		disease 0.760 None 1.000 1 2 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
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		disease 0.740 None 1.000 7 7 2005 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: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		disease 0.740 None 1.000 2 1 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 1 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: C1847406
Disease: Digital Arthropathy-Brachydactyly, Familial
Digital Arthropathy-Brachydactyly, Familial 		disease 0.710 None 1.000 1 3 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
CUI: C1838492
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) 		disease 0.700 None 1.000 3 3 2010 2012