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: C0271364
Disease: Manifest vertical squint
Manifest vertical squint 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C0339649
Disease: Vertical retraction syndrome
Vertical retraction syndrome 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2010 2010
CUI: C0152221
Disease: Paralytic strabismus
Paralytic strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0155339
Disease: Brown Tendon Sheath Syndrome
Brown Tendon Sheath Syndrome 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C1846464
Disease: Globe retraction and deviation on adduction
Globe retraction and deviation on adduction 		phenotype Finding 2 3 0.100 None 0 2
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: 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: C4023395
Disease: Patchy hypopigmentation of hair
Patchy hypopigmentation of hair 		phenotype Finding 3 0.100 None 0
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: C1860344
Disease: Hypoplastic iris stroma
Hypoplastic iris stroma 		phenotype Finding 7 0.100 None 0
CUI: C4021567
Disease: Central heterochromia
Central heterochromia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Sign or Symptom 7 1 0.100 None 0
CUI: C0334551
Disease: Myxoid chondrosarcoma
Myxoid chondrosarcoma 		disease Neoplasms Neoplastic Process 9 0.020 None 1.000 2 1996 1997
CUI: C0028850
Disease: Ocular Motility Disorders
Ocular Motility Disorders 		group Eye Diseases; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2010 2010
CUI: C0474496
Disease: Diarrhea and vomiting, symptom
Diarrhea and vomiting, symptom 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 9 0.010 None 1.000 1 2019 2019
CUI: C3697716
Disease: Acute flaccid paralysis
Acute flaccid paralysis 		phenotype Sign or Symptom 10 0.040 None 1.000 4 2013 2016
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		phenotype Anatomical Abnormality 12 2 0.100 None 0 1
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		phenotype Finding 12 4 0.100 None 0 1
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		phenotype Finding 14 0.100 None 0
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 16 6 0.100 None 0 1
CUI: C0025290
Disease: Aseptic Meningitis
Aseptic Meningitis 		disease Nervous System Diseases Disease or Syndrome 17 0.030 None 1.000 3 2015 2017
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 18 1 0.100 None 0
CUI: C0025988
Disease: Microglossia
Microglossia 		disease Stomatognathic Diseases Congenital Abnormality 19 2 0.100 None 0 1
CUI: C0028866
Disease: Oculomotor Nerve Paralysis
Oculomotor Nerve Paralysis 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 22 1 0.100 None 0