Source: HPO

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: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1851542
Disease: Limited hip movement
Limited hip movement 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1847408
Disease: Brachytelomesophalangy
Brachytelomesophalangy 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1857101
Disease: Anisospondyly
Anisospondyly 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1864853
Disease: Increased vertebral height
Increased vertebral height 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1863749
Disease: Carpal bone hypoplasia
Carpal bone hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1860601
Disease: Flattened femoral head
Flattened femoral head 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting 		phenotype 0.100 None 0 0