COLEC11, collectin subfamily member 11, 78989

N. diseases: 83; N. variants: 9
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: C0796279
Disease: Carnevale syndrome
Carnevale syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 4 2 0.700 strong 1.000 4 2 1989 2017
CUI: C4303860
Disease: Craniofacial ulnar renal syndrome
Craniofacial ulnar renal syndrome 		disease Disease or Syndrome 3 0.330 None 1.000 4 2011 2016
CUI: C0549567
Disease: Pigmentation Disorders
Pigmentation Disorders 		group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 16 0.300 None 1.000 1 2011 2011
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 67 10 0.300 None 1.000 1 2011 2011
CUI: C0036305
Disease: Schamberg Disease
Schamberg Disease 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 6 0.300 None 1.000 1 2011 2011
CUI: C0796059
Disease: Oculopalatoskeletal syndrome
Oculopalatoskeletal syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 2 6 0.300 None 1.000 1 2011 2011
CUI: C0796032
Disease: Malpuech facial clefting syndrome
Malpuech facial clefting syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 4 3 0.300 None 1.000 1 2011 2011
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 2011 2011
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C2697767
Disease: Interleukin 19 Measurement
Interleukin 19 Measurement 		phenotype Laboratory Procedure 1 1 0.100 None 1.000 1 1 2017 2017
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		disease Finding 149 527 0.100 None 1.000 1 1 2019 2019
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		phenotype Laboratory Procedure 11 149 0.100 None 1.000 1 1 2017 2017
CUI: C0376705
Disease: Viral Load result
Viral Load result 		phenotype Finding 65 91 0.100 None 1.000 1 1 2019 2019
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		phenotype Laboratory Procedure 55 143 0.100 None 1.000 1 1 2016 2016
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 3 2018 2018
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype Anatomical Abnormality 122 14 0.100 None 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		phenotype Finding 28 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1303003
Disease: Epicanthus inversus
Epicanthus inversus 		phenotype Finding 9 1 0.100 None 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		phenotype Anatomical Abnormality 24 5 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 0