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: C0858684
Disease: Facial telangiectasia
Facial telangiectasia 		phenotype Cardiovascular Diseases 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: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 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: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype Finding 129 0.100 None 0
CUI: C0262985
Disease: Psoriasiform eczema
Psoriasiform eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 62 0.100 None 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.100 None 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.100 None 0
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		phenotype Finding 27 2 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		phenotype Stomatognathic Diseases Finding 100 5 0.100 None 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype Finding 24 2 0.100 None 0
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.100 None 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype Finding 123 0.100 None 0
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		disease Anatomical Abnormality 19 0.100 None 0
CUI: C3839407
Disease: Edema of upper eyelid
Edema of upper eyelid 		phenotype Finding 3 0.100 None 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		group Anatomical Abnormality 29 1 0.100 None 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group Anatomical Abnormality 96 4 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: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 148 18 0.100 None 0