PARN, poly(A)-specific ribonuclease, 5073

N. diseases: 144; N. variants: 14
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: C4225347
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		disease Disease or Syndrome 1 4 0.700 None 1.000 4 4 2015 2015
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		disease Disease or Syndrome 2 9 0.700 None 1.000 4 9 2015 2019
CUI: C4727832
Disease: Telomere Syndrome
Telomere Syndrome 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C4023400
Disease: Generalized hypopigmentation of hair
Generalized hypopigmentation of hair 		disease Disease or Syndrome 6 0.100 None 0
CUI: C0016038
Disease: Fibroelastosis
Fibroelastosis 		disease Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2016 2016
CUI: C0152009
Disease: White blood cell abnormality
White blood cell abnormality 		phenotype Hemic and Lymphatic Diseases Finding 8 0.100 None 0
CUI: C0241984
Disease: Honeycomb lung
Honeycomb lung 		disease Respiratory Tract Diseases Disease or Syndrome 14 0.100 None 0
CUI: C4476639
Disease: Ground-glass opacification on pulmonary HRCT
Ground-glass opacification on pulmonary HRCT 		phenotype Finding 14 0.100 None 0
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT 		phenotype Finding 14 0.100 None 0
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 0.320 None 1.000 3 2015 2019
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 0.020 None 1.000 2 2016 2019
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: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease 		disease Respiratory Tract Diseases Disease or Syndrome 20 0.300 None 1.000 1 2015 2015
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: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency 		phenotype Cardiovascular Diseases Pathologic Function 22 2 0.100 None 0
CUI: C4721952
Disease: Familial Idiopathic Pulmonary Fibrosis
Familial Idiopathic Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 23 0.310 None 1.000 2 2015 2015
CUI: C0034642
Disease: Rales
Rales 		phenotype Pathological Conditions, Signs and Symptoms Finding 23 0.100 None 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		phenotype Finding 23 1 0.100 None 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		disease Anatomical Abnormality 23 0.100 None 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		phenotype Anatomical Abnormality 25 0.100 None 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		group Anatomical Abnormality 29 1 0.100 None 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		phenotype Finding 29 0.100 None 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		phenotype Immune System Diseases Finding 30 0.100 None 0