TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
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: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 58 146 0.900 None 0.917 24 15 2008 2018
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder)
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 4 0.730 None 1.000 5 3 2008 2017
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
disease Disease or Syndrome 1 7 0.700 None 1.000 4 7 2008 2018
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 16 1 0.500 moderate 1.000 3 2008 2012
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 1 0.310 None 1.000 1 1 2008 2008
CUI: C0027339
Disease: Nail Diseases
Nail Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 6 1 0.300 None 1.000 1 2008 2008
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 17 33 0.300 None 1.000 1 2008 2008
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 1 2008 2008
CUI: C0005956
Disease: Bone Marrow Diseases
Bone Marrow Diseases
group Hemic and Lymphatic Diseases Disease or Syndrome 84 3 0.300 None 1.000 1 2008 2008
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases
group Nervous System Diseases Disease or Syndrome 66 4 0.300 None 1.000 1 2008 2008
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.120 None 1.000 2 2015 2018
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy
disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 23 6 0.110 None 1.000 1 2014 2014
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.110 None 1.000 1 2017 2017
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.110 None 1.000 1 1 2008 2008
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.110 None 1.000 1 2008 2008
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2018 2018
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C1849392
Disease: Ridged fingernail
Ridged fingernail
phenotype Finding 9 0.100 None 0
CUI: C0423820
Disease: Ridged nails
Ridged nails
phenotype Finding 22 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases
phenotype Finding 111 0.100 None 0
Progressive neurologic deterioration
phenotype Mental Disorders Finding 33 5 0.100 None 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency
phenotype Immune System Diseases Finding 30 0.100 None 0
CUI: C1851972
Disease: Reticular hyperpigmentation
Reticular hyperpigmentation
phenotype Finding 7 0.100 None 0
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.100 None 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
phenotype Finding 64 5 0.100 None 0