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: 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: 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: C0018498
Disease: Hair Color
Hair Color 		phenotype Organism Attribute 130 312 0.100 None 1.000 1 1 2018 2018
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 2017 2017
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: 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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 0.500 2 2010 2017
CUI: C0267446
Disease: Acute gastroenteritis
Acute gastroenteritis 		disease Digestive System Diseases Disease or Syndrome 36 1 0.010 None < 0.001 1 2017 2017
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: 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: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype Skin and Connective Tissue Diseases Finding 123 2 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: 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: C0238207
Disease: Ectopic kidney
Ectopic kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 41 3 0.100 None 0
CUI: C1405984
Disease: Absent radius
Absent radius 		disease Congenital Abnormality 24 1 0.100 None 0
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: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype Finding 89 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 190 75 0.100 None 0 1
CUI: C3179508
Disease: Aplasia/Hypoplasia of the thumb
Aplasia/Hypoplasia of the thumb 		phenotype Musculoskeletal Diseases Finding 22 1 0.100 None 0
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.100 None 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 58 3 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