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: C1859877
Disease: Alopecia universalis congenita
Alopecia universalis congenita
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 1 4 0.900 moderate 1.000 7 4 1998 2014
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 70 3 0.900 None 1.000 4 2 1998 2008
CUI: C0263505
Disease: Alopecia universalis
Alopecia universalis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 2 0.710 strong 1.000 2 1998 1998
Marie Unna Hereditary Hypotrichosis 1
disease Skin and Connective Tissue Diseases Disease or Syndrome 1 4 0.610 None 1.000 3 4 1999 2012
CUI: C2931059
Disease: Marie Unna congenital hypotrichosis
Marie Unna congenital hypotrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 4 2 0.510 None 1.000 1 2009 2009
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.430 None 1.000 4 2002 2012
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 91 743 0.300 None 1.000 1 2006 2006
CUI: C0086873
Disease: Pseudopelade
Pseudopelade
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 23 0.300 None 1.000 1 2006 2006
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 112 107 0.300 None 1.000 1 2006 2006
CUI: C0263477
Disease: Female pattern alopecia (disorder)
Female pattern alopecia (disorder)
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 15 0.300 None 1.000 1 2006 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 0
Other specified nonscarring hair loss
disease Disease or Syndrome 2 0.200 None 1.000 2 1998 2005
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes
phenotype Finding 13 0.100 None 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow
phenotype Finding 52 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair
phenotype Finding 57 0.100 None 0
CUI: C4024865
Disease: Generalized papillary lesions
Generalized papillary lesions
phenotype Anatomical Abnormality 1 0.100 None 0
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair
phenotype Finding 85 7 0.100 None 0
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata
disease Skin and Connective Tissue Diseases Disease or Syndrome 114 54 0.100 None 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.100 None 0
CUI: C0263491
Disease: Pili Torti
Pili Torti
phenotype Skin and Connective Tissue Diseases Finding 12 0.100 None 0
CUI: C0277959
Disease: Coarse hair
Coarse hair
phenotype Finding 60 4 0.100 None 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 1 0.100 None 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes
phenotype Congenital Abnormality 21 1 0.100 None 0