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: 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: 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
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: 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: 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: 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: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.420 strong 1.000 2 2003 2010
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.410 None 1.000 2 1 2006 2007
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.400 moderate 1.000 6 1 1999 2015
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.320 strong 1.000 3 1 1998 2012
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 27 0.300 None 1.000 15 1994 2015
CUI: C3281128
Disease: FIBROCHONDROGENESIS 2
FIBROCHONDROGENESIS 2
disease Disease or Syndrome 1 0.300 None 1.000 2 1998 2012
CUI: C0007302
Disease: Cartilage Diseases
Cartilage Diseases
group Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 23 0.300 None 1.000 1 2001 2001
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: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.300 None 1.000 1 2012 2012
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 59 4 0.300 None 1.000 1 2006 2006
CUI: C0085700
Disease: Chondromalacia
Chondromalacia
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 8 0.300 None 1.000 1 2001 2001
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 0.300 None 1.000 1 2006 2006
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2006 2006
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 limited 1.000 1 2004 2004
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
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
Sensorineural hearing loss, bilateral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.200 None 1.000 2 1999 2001
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.150 None 1.000 5 2005 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.110 None 1.000 3 3 2007 2011