AP4B1-AS1, AP4B1 antisense RNA 1, 100287722

N. diseases: 13; N. variants: 38
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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 10 3 2009 2016
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 3 7 0.100 None 1.000 4 4 2011 2015
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 1.000 3 1 2011 2012
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 1.000 3 1 2011 2012
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 1.000 3 1 2011 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.100 None 1.000 2 12 2009 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.100 None 1.000 1 3 2019 2019
CUI: C0027121
Disease: Myositis
Myositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 254 43 0.100 None 1.000 1 2 2019 2019
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 161 76 0.100 None 1.000 1 2 2015 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.100 None 1.000 1 6 2019 2019
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.100 None 1.000 1 10 2015 2015
CUI: C1840136
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO
DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 0 2