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: C0265267
Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 6 14 0.780 None 0.909 11 13 2000 2019
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		disease Musculoskeletal Diseases Disease or Syndrome 9 39 0.210 None 1.000 4 1973 2019
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		disease Musculoskeletal Diseases Congenital Abnormality 16 1 0.200 None 1.000 3 1973 2005
CUI: C1844853
Disease: Brachytelephalangic Chondrodysplasia Punctata
Brachytelephalangic Chondrodysplasia Punctata 		disease Disease or Syndrome 7 11 0.200 None 1.000 3 1973 2005
CUI: C0263627
Disease: Calcinosis universalis
Calcinosis universalis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.200 None 1.000 3 1973 2005
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 41 10 0.200 None 1.000 2 1999 2000
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.020 None 1.000 2 2016 2019
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		disease Neoplasms Neoplastic Process 122 20 0.010 None 1.000 1 2000 2000
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		disease Neoplasms Neoplastic Process 297 33 0.010 None 1.000 1 2000 2000
CUI: C0027960
Disease: Nevus
Nevus 		disease Neoplasms Neoplastic Process 125 43 0.010 None 1.000 1 2000 2000
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		disease Neoplasms Disease or Syndrome 14 17 0.010 None 1.000 1 2019 2019
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		disease Neoplasms Neoplastic Process 1543 348 0.300 None 1.000 1 2013 2013
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 0.110 None 1.000 1 2010 2010
CUI: C0740404
Disease: Limb defects
Limb defects 		group Congenital Abnormality 67 2 0.010 None 1.000 1 1 2003 2003
CUI: C0346054
Disease: Verruciform xanthoma of skin
Verruciform xanthoma of skin 		disease Nutritional and Metabolic Diseases Neoplastic Process 2 0.010 None 1.000 1 2005 2005
CUI: C1836047
Disease: Long face
Long face 		phenotype Finding 182 12 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype Finding 87 6 0.100 None 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 0.100 None 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.100 None 0
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.100 None 0
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 63 4 0.100 None 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease Anatomical Abnormality 41 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0