ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
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: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C0030354
Disease: Papilloma
Papilloma 		disease Neoplasms Neoplastic Process 273 27 0.100 None 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.100 None 0
CUI: C0033999
Disease: Pterygium
Pterygium 		disease Eye Diseases Disease or Syndrome 216 5 0.100 None 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.100 None 0 1
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		disease Neoplasms Neoplastic Process 297 33 0.100 None 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		phenotype Eye Diseases Finding 46 0.100 None 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype Finding 39 2 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype Finding 116 5 0.100 None 0