CHN1, chimerin 1, 1123

N. diseases: 112; N. variants: 13
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: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 32 2 0.700 None 1.000 10 1 2007 2017
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 13 0.610 None 1.000 2 10 2007 2008
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 11 0.300 None 0
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 0.300 None 0
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 3 0.300 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.110 None 1.000 1 2011 2011
CUI: C0018498
Disease: Hair Color
Hair Color
phenotype Organism Attribute 130 312 0.100 None 1.000 1 1 2018 2018
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2015 2015
CUI: C1298695
Disease: Hypoplasia of optic disc
Hypoplasia of optic disc
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 31 0.100 None 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype Pathological Conditions, Signs and Symptoms Finding 109 13 0.100 None 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 49 0.100 None 0
CUI: C1405984
Disease: Absent radius
Absent radius
disease Congenital Abnormality 24 1 0.100 None 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype Skin and Connective Tissue Diseases Finding 123 2 0.100 None 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 123 10 0.100 None 0
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 37 5 0.100 None 0
Congenital ear anomaly NOS (disorder)
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality 137 5 0.100 None 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 41 3 0.100 None 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal
disease Disease or Syndrome 25 4 0.100 None 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype Finding 91 16 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 72 2 0.100 None 0 1
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 108 31 0.100 None 0 1