ERLIN2, ER lipid raft associated 2, 11160

N. diseases: 85; N. variants: 4
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: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 3 0.700 None 1.000 5 3 2011 2018
CUI: C4073166
Disease: Abnormality of jaw muscles
Abnormality of jaw muscles 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		disease Nervous System Diseases Disease or Syndrome 2 5 0.310 None 1.000 1 2012 2012
CUI: C4021988
Disease: Abnormality of the lumbar spine
Abnormality of the lumbar spine 		phenotype Anatomical Abnormality 2 1 0.100 None 0
CUI: C1851835
Disease: Narrow maxilla
Narrow maxilla 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4022432
Disease: Bilateral external ear deformity
Bilateral external ear deformity 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4022794
Disease: Parietal hypometabolism in FDG PET
Parietal hypometabolism in FDG PET 		phenotype Finding 3 0.100 None 0
CUI: C4293678
Disease: Glabellar reflex
Glabellar reflex 		phenotype Finding 3 0.100 None 0
CUI: C4025720
Disease: Pseudobulbar behavioral symptoms
Pseudobulbar behavioral symptoms 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 5 0.100 None 0
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements 		phenotype Finding 8 0.100 None 0
CUI: C0393555
Disease: Pure hereditary spastic paraplegia
Pure hereditary spastic paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 2012 2012
CUI: C0149632
Disease: Abnormality of the bladder
Abnormality of the bladder 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 9 2 0.100 None 0
CUI: C1406835
Disease: Flexion contracture of toe
Flexion contracture of toe 		phenotype Finding 10 0.100 None 0
CUI: C0033790
Disease: Pseudobulbar Palsy
Pseudobulbar Palsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 0.100 None 0
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 14 1 0.100 None 0
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		disease Acquired Abnormality 15 4 0.100 None 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 2 0.100 None 0
CUI: C1857304
Disease: Flexion contracture of finger
Flexion contracture of finger 		phenotype Finding 17 4 0.100 None 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		disease Anatomical Abnormality 20 1 0.100 None 0
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 29 19 0.010 None 1.000 1 2012 2012
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 1 0.100 None 0
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		phenotype Sign or Symptom 31 7 0.100 None 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 0
CUI: C0019553
Disease: Hip Contracture
Hip Contracture 		disease Musculoskeletal Diseases Acquired Abnormality 34 0.100 None 0