Congenital deafness
0.010
GeneticVariation
disease
BEFREE
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.
25788564
2015
Familial (FPAH)
0.010
GeneticVariation
disease
BEFREE
This is the third report of PTPRQ mutations involved in deafness and the first report of familial deafness in China.
25557914
2015
Prelingual sensorineural hearing impairment
0.010
GeneticVariation
disease
BEFREE
Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment .
25557914
2015
Colorectal Carcinoma
0.010
Biomarker
disease
BEFREE
In a previous study, we have described protein tyrosine phosphatase receptor type T, M, Z1 and Q genes (PTPRT, PTPRM, PTPRZ1 and PTPRQ ) hypermethylated in sporadic colorectal cancer .
25169130
2014
Malignant neoplasm of colon and/or rectum
0.010
Biomarker
disease
BEFREE
In a previous study, we have described protein tyrosine phosphatase receptor type T, M, Z1 and Q genes (PTPRT, PTPRM, PTPRZ1 and PTPRQ ) hypermethylated in sporadic colorectal cancer .
25169130
2014
Nonsyndromic Deafness
0.010
GeneticVariation
disease
BEFREE
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.
20346435
2010
Congenital sensorineural hearing loss
0.020
GeneticVariation
disease
BEFREE
Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family.
29849575
2018
Congenital sensorineural hearing loss
0.020
GeneticVariation
disease
BEFREE
We present 3 patients with congenital sensorineural hearing loss (SNHL) caused by novel PTPRQ mutations, including clinical manifestations and phenotypic features.
25788564
2015
Deafness
0.100
CausalMutation
phenotype
CLINVAR
Flatfoot
0.100
CausalMutation
phenotype
CLINVAR
×
CUI:
C0030193
Disease:
Pain
Pain
0.100
CausalMutation
phenotype
CLINVAR
Gait, Unsteady
0.100
CausalMutation
phenotype
CLINVAR
Clumsiness - motor delay
0.100
Biomarker
disease
HPO
Congenital pes cavus
0.100
CausalMutation
disease
CLINVAR
hearing impairment
0.100
CausalMutation
phenotype
CLINVAR
hearing impairment
0.100
Biomarker
phenotype
HPO
Progressive inability to walk
0.100
CausalMutation
phenotype
CLINVAR
Vestibular dysfunction
0.100
Biomarker
phenotype
HPO
Impaired vibration sensation in the lower limbs
0.100
CausalMutation
phenotype
CLINVAR
Motor delay
0.100
Biomarker
phenotype
HPO
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300
Biomarker
disease
CLINGEN
Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.
25919374
2015
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300
Biomarker
disease
CLINGEN
CLIC5 stabilizes membrane-actin filament linkages at the base of hair cell stereocilia in a molecular complex with radixin, taperin, and myosin VI.
24285636
2014
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300
Biomarker
disease
CLINGEN
A reduction in Ptprq associated with specific features of the deafness phenotype of the miR-96 mutant mouse diminuendo.
24446963
2014
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300
Biomarker
disease
CLINGEN
Hair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQ.
22357859
2012
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300
Biomarker
disease
CLINGEN
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.
20346435
2010