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: 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: C4024828
Disease: Fine, reticulate skin pigmentation
Fine, reticulate skin pigmentation
phenotype Finding 1 0.100 None 0
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: C0152458
Disease: Leukocoria
Leukocoria
disease Eye Diseases Disease or Syndrome 4 0.100 None 0
CUI: C4727832
Disease: Telomere Syndrome
Telomere Syndrome
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
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
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2012 2012
Generalized hypopigmentation of hair
disease Disease or Syndrome 6 0.100 None 0
CUI: C1851972
Disease: Reticular hyperpigmentation
Reticular hyperpigmentation
phenotype Finding 7 0.100 None 0
CUI: C0150993
Disease: Pitting of nails
Pitting of nails
phenotype Skin and Connective Tissue Diseases Finding 8 0.100 None 0
CUI: C0152009
Disease: White blood cell abnormality
White blood cell abnormality
phenotype Hemic and Lymphatic Diseases Finding 8 0.100 None 0
CUI: C3279575
Disease: Reticulated skin pigmentation
Reticulated skin pigmentation
phenotype Finding 8 0.100 None 0
CUI: C1849392
Disease: Ridged fingernail
Ridged fingernail
phenotype Finding 9 0.100 None 0
Inherited bone marrow failure syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 11 3 0.010 None 1.000 1 2011 2011
CUI: C4531138
Disease: Short telomere length
Short telomere length
phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2001 2001
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
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: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis
disease Digestive System Diseases Disease or Syndrome 17 2 0.100 None 0
CUI: C0239804
Disease: White hair
White hair
phenotype Finding 18 0.100 None 0
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation
disease Anatomical Abnormality 19 0.100 None 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 20 0.100 None 0
CUI: C0423820
Disease: Ridged nails
Ridged nails
phenotype Finding 22 0.100 None 0
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: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail
phenotype Finding 23 1 0.100 None 0