SLC29A3, solute carrier family 29 member 3, 55315

N. diseases: 123; N. variants: 21
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: C2676766
Disease: Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Autosomal Recessive 7 		disease Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 5 0.010 None 1.000 1 2019 2019
CUI: C3839407
Disease: Edema of upper eyelid
Edema of upper eyelid 		phenotype Finding 3 0.100 None 0
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 5 0.330 None 1.000 3 2012 2019
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 6 18 0.800 None 1.000 32 18 1998 2019
CUI: C0858684
Disease: Facial telangiectasia
Facial telangiectasia 		phenotype Cardiovascular Diseases Finding 6 0.100 None 0
CUI: C3276815
Disease: Stiff skin
Stiff skin 		phenotype Finding 6 0.100 None 0
CUI: C0747556
Disease: Recurrent pharyngitis
Recurrent pharyngitis 		phenotype Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Sign or Symptom 8 0.100 None 0
CUI: C0014583
Disease: Episcleritis
Episcleritis 		disease Eye Diseases Disease or Syndrome 9 0.100 None 0
CUI: C0235592
Disease: Cervical lymphadenopathy
Cervical lymphadenopathy 		disease Hemic and Lymphatic Diseases Disease or Syndrome 11 1 0.100 None 0
CUI: C1863353
Disease: Hypoplastic vertebral bodies
Hypoplastic vertebral bodies 		phenotype Finding 11 0.100 None 0
CUI: C0003742
Disease: Arcus Senilis
Arcus Senilis 		disease Eye Diseases Disease or Syndrome 13 23 0.100 None 0
CUI: C0008711
Disease: Chronic rhinitis
Chronic rhinitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 15 0.100 None 0
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		disease Anatomical Abnormality 17 2 0.100 None 0
CUI: C0019625
Disease: Sinus histiocytosis
Sinus histiocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 19 2 0.350 None 0.800 5 2010 2013
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		disease Anatomical Abnormality 19 0.100 None 0
CUI: C0398597
Disease: Histiocytic syndrome
Histiocytic syndrome 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 21 2 0.040 None 0.750 4 2011 2013
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype Finding 24 2 0.100 None 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		phenotype Finding 25 0.100 None 0
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		phenotype Finding 27 2 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: C0019618
Disease: Histiocytosis
Histiocytosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 32 3 0.440 None 0.750 4 2011 2013
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 2 0.100 None 0
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		disease Endocrine System Diseases Disease or Syndrome 42 8 0.300 None 1.000 1 2010 2010
CUI: C0342302
Disease: Brittle diabetes
Brittle diabetes 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 44 0.300 None 1.000 2 2009 2010