CTNNB1, catenin beta 1, 1499

N. diseases: 70; N. variants: 52
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 30 35 0.100 None 0 1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 0 1
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 17 23 0.100 None 0 1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 124 192 0.100 None 0 1
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		phenotype Musculoskeletal Diseases Finding 6 7 0.100 None 0 1
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 8 0.100 None 0 1
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 46 66 0.100 None 0 1
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 56 64 0.100 None 0 1
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 28 34 0.100 None 0 1
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		disease Eye Diseases Disease or Syndrome 5 5 0.100 None 0 1
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype Finding 2 3 0.100 None 0 1
CUI: C4072980
Disease: Exudative vitreoretinopathy
Exudative vitreoretinopathy 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4023443
Disease: Absent antitragus
Absent antitragus 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C4013429
Disease: Underdeveloped tragus
Underdeveloped tragus 		disease Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C3665983
Disease: Oral aversion
Oral aversion 		disease Mental or Behavioral Dysfunction 4 4 0.100 None 0 1
CUI: C2675440
Disease: Desmoid Tumor Caused By Somatic Mutation
Desmoid Tumor Caused By Somatic Mutation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype Finding 11 12 0.100 None 0 1
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		phenotype Finding 3 3 0.100 None 0 1
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype Finding 7 8 0.100 None 0 1
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 46 72 0.100 None 0 1
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 20 23 0.100 None 0 1
CUI: C0154828
Disease: Traction detachment of retina
Traction detachment of retina 		disease Eye Diseases Pathologic Function 1 1 0.100 None 0 1
CUI: C0014877
Disease: Esotropia
Esotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 33 38 0.100 None 0 1