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: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		phenotype Finding 13 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		phenotype Finding 25 2 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone 		phenotype Finding 42 19 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype Finding 32 1 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype Finding 43 3 0.100 None 0
CUI: C1848654
Disease: Broad ribs
Broad ribs 		phenotype Finding 18 0.100 None 0
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		phenotype Finding 18 0.100 None 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		phenotype Finding 30 2 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone 		phenotype Finding 10 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 291 5 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		phenotype Finding 16 0.100 None 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		phenotype Finding 14 0.100 None 0
CUI: C1859116
Disease: Large tarsal bones
Large tarsal bones 		phenotype Finding 1 0.100 None 0
CUI: C1859115
Disease: Prominent interphalangeal joints
Prominent interphalangeal joints 		phenotype Finding 4 0.100 None 0
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		phenotype Finding 7 0.100 None 0