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: C3554409
Disease: HYPOTRICHOSIS 11
HYPOTRICHOSIS 11
disease Disease or Syndrome 1 2 0.600 moderate 1.000 2 2 1998 2013
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.400 None 0
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex
disease Skin and Connective Tissue Diseases Disease or Syndrome 37 5 0.310 None 1.000 1 1 2013 2013
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis
disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 503 64 0.200 None 1.000 1 2004 2004
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow
phenotype Finding 52 0.100 None 0
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes
phenotype Finding 13 0.100 None 0
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp
phenotype Finding 12 1 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair
phenotype Finding 57 0.100 None 0
CUI: C1859392
Disease: Absent axillary hair
Absent axillary hair
phenotype Finding 7 1 0.100 None 0
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes
phenotype Finding 60 4 0.100 None 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow
phenotype Finding 68 8 0.100 None 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2005 2005
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma
disease Neoplasms Neoplastic Process 387 9 0.010 None 1.000 1 2005 2005
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 51 29 0.010 None 1.000 1 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2011 2011
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.010 None 1.000 1 2019 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 2019 2019
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma
disease Neoplasms Neoplastic Process 413 9 0.010 None 1.000 1 2005 2005