EPS8L2, EPS8 like 2, 64787

N. diseases: 5; N. variants: 3
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: C4539954
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 106
DEAFNESS, AUTOSOMAL RECESSIVE 106 		disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2017 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.300 moderate 1.000 3 2013 2017
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C2931852
Disease: Clear-cell metastatic renal cell carcinoma
Clear-cell metastatic renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 260 11 0.010 None 1.000 1 2020 2020