COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
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: C3281128
Disease: FIBROCHONDROGENESIS 2
FIBROCHONDROGENESIS 2 		disease Disease or Syndrome 1 0.300 None 1.000 2 1998 2012
CUI: C1859116
Disease: Large tarsal bones
Large tarsal bones 		phenotype Finding 1 0.100 None 0
CUI: C4021615
Disease: Abnormal metacarpal morphology
Abnormal metacarpal morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4025261
Disease: Aplasia/Hypoplasia of the capital femoral epiphysis
Aplasia/Hypoplasia of the capital femoral epiphysis 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 4 0.710 None 1.000 5 4 1964 2015
CUI: C1843895
Disease: Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 44 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C1855310
Disease: Megaepiphyseal dwarfism
Megaepiphyseal dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2006 2006
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 2 4 0.600 None 1.000 1 4 2004 2004
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 3 5 1.000 definitive 1.000 23 4 1964 2015
CUI: C1848488
Disease: Pierre Robin syndrome with fetal chondrodysplasia
Pierre Robin syndrome with fetal chondrodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 3 1 0.820 definitive 1.000 18 1 1964 2015
CUI: C0265282
Disease: Fibrochondrogenesis
Fibrochondrogenesis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 3 0.510 None 1.000 1 2012 2012
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		disease Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 9 0.210 None 1.000 3 1999 2001
CUI: C1562312
Disease: Estrogen receptor positive tumor
Estrogen receptor positive tumor 		disease Neoplastic Process 4 0.010 None 1.000 1 2019 2019
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 10 0.010 None 1.000 1 2002 2002
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		disease Disease or Syndrome 4 5 0.010 None 1.000 1 2015 2015
CUI: C1858567
Disease: Abnormal lacrimal duct morphology
Abnormal lacrimal duct morphology 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C1859115
Disease: Prominent interphalangeal joints
Prominent interphalangeal joints 		phenotype Finding 4 0.100 None 0
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 5 34 0.010 None 1.000 1 2018 2018
CUI: C4525546
Disease: Chicken Lymphoma
Chicken Lymphoma 		disease Neoplastic Process 5 0.010 None 1.000 1 2020 2020
CUI: C1833328
Disease: Enlarged epiphyses
Enlarged epiphyses 		phenotype Finding 5 1 0.100 None 0
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 6 3 0.930 None 1.000 8 3 1964 2016
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 6 8 0.010 None 1.000 1 2019 2019
CUI: C1112338
Disease: Apoptotic DNA damage
Apoptotic DNA damage 		disease Disease or Syndrome 7 0.010 None 1.000 1 2010 2010
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 135 0.010 None 1.000 1 2002 2002
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		phenotype Finding 7 0.100 None 0