CTNND2, catenin delta 2, 1501

N. diseases: 117; N. variants: 18
Source: ALL
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: C4315867
Disease: Moderate myopia
Moderate myopia 		disease Eye Diseases Disease or Syndrome 2 8 0.010 None < 0.001 1 2 2011 2011
CUI: C2931860
Disease: Monosomy 5p
Monosomy 5p 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Cell or Molecular Dysfunction 2 0.300 None 0
CUI: C0234861
Disease: Cri du chat
Cri du chat 		phenotype Finding 3 0.100 None 0
CUI: C1832841
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2017 2017
CUI: C0010314
Disease: Cri-du-Chat Syndrome
Cri-du-Chat Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 0.350 None 1.000 5 2000 2019
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		disease Anatomical Abnormality 22 1 0.100 None 0
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		disease Neoplasms Neoplastic Process 25 1 0.010 None 1.000 1 2015 2015
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		disease Disease or Syndrome 27 67 0.100 None 1.000 1 1 2014 2014
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 31 54 0.100 None 1.000 1 1 2014 2014
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		phenotype Sign or Symptom 31 7 0.100 None 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		phenotype Finding 35 1 0.100 None 0
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative 		disease Eye Diseases Disease or Syndrome 39 58 0.010 None 1.000 1 1 2012 2012
CUI: C0149793
Disease: Amaurosis Fugax
Amaurosis Fugax 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 49 2 0.100 None 0
CUI: C1392786
Disease: Cognitive changes
Cognitive changes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 50 15 0.010 None 1.000 1 2012 2012
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding 53 6 0.100 None 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		phenotype Finding 53 4 0.100 None 0
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		disease Eye Diseases Disease or Syndrome 69 15 0.010 None 1.000 1 3 2012 2012
CUI: C0239479
Disease: Round face
Round face 		phenotype Finding 88 3 0.100 None 0
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		disease Neoplasms Neoplastic Process 95 3 0.300 None 1.000 1 2013 2013
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 103 5 0.010 None 1.000 1 2015 2015
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 0
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.300 None 1.000 1 2013 2013
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype Finding 123 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 130 50 0.100 None 0
CUI: C0024814
Disease: Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 133 8 0.010 None 1.000 1 2015 2015