CRLF1, cytokine receptor like factor 1, 9244

N. diseases: 97; N. variants: 25
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: C1848947
Disease: COLD-INDUCED SWEATING SYNDROME 1
COLD-INDUCED SWEATING SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 20 0.720 strong 1.000 8 16 2003 2014
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 14 0.700 None 1.000 14 10 2003 2019
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		disease Digestive System Diseases Disease or Syndrome 49 5 0.310 None < 0.001 1 2017 2017
CUI: C0859976
Disease: Idiopathic achalasia of esophagus
Idiopathic achalasia of esophagus 		disease Digestive System Diseases Disease or Syndrome 15 2 0.300 None 1.000 1 2017 2017
CUI: C1853198
Disease: COLD-INDUCED SWEATING SYNDROME 2
COLD-INDUCED SWEATING SYNDROME 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 3 0.300 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.110 None 1.000 1 2016 2016
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 1.000 1 1 2019 2019
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 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: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger 		phenotype Finding 42 0.100 None 0
CUI: C0041105
Disease: Trismus
Trismus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 2 0.100 None 0
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 133 40 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 32 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: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease Acquired Abnormality 73 14 0.100 None 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 151 2 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype Finding 87 1 0.100 None 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype Finding 91 19 0.100 None 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		phenotype Finding 93 3 0.100 None 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 0