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: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype Finding 87 1 0.100 None 0
CUI: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C4022551
Disease: Wide penis
Wide penis 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4021740
Disease: Increased circulating ACTH level
Increased circulating ACTH level 		phenotype Finding 12 0.100 None 0
CUI: C4018860
Disease: Pituitary growth hormone cell adenoma
Pituitary growth hormone cell adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 8 0.100 None 0
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		disease Mental or Behavioral Dysfunction 5 7 0.100 None 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 26 0.100 None 0
CUI: C3665358
Disease: Galactorrhea
Galactorrhea 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Finding 6 0.100 None 0
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 47 2 0.100 None 0
CUI: C3281059
Disease: Broad jaw
Broad jaw 		phenotype Finding 6 0.100 None 0
CUI: C4022676
Disease: Decreased female libido
Decreased female libido 		phenotype Finding 4 0.100 None 0
CUI: C4023211
Disease: Adrenocorticotropin deficient adrenal insufficiency
Adrenocorticotropin deficient adrenal insufficiency 		disease Disease or Syndrome 6 0.100 None 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		disease Nervous System Diseases Disease or Syndrome 8 2 0.100 None 0
CUI: C4072828
Disease: Sudden loss of visual acuity
Sudden loss of visual acuity 		phenotype Finding 5 0.100 None 0
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 48 0.100 None 0
CUI: C4025789
Disease: Psychotic mentation
Psychotic mentation 		disease Mental Disorders Mental or Behavioral Dysfunction 3 0.100 None 0
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level 		phenotype Finding 18 0.100 None 0
CUI: C4025548
Disease: Cortical diaphyseal thickening of the upper limbs
Cortical diaphyseal thickening of the upper limbs 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4024716
Disease: Secondary growth hormone deficiency
Secondary growth hormone deficiency 		disease Disease or Syndrome 11 0.100 None 0
CUI: C4023401
Disease: Abnormality of hair density
Abnormality of hair density 		disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C2676198
Disease: Increased serum insulin-like growth factor 1
Increased serum insulin-like growth factor 1 		phenotype Finding 2 0.100 None 0
CUI: C1866241
Disease: Broad foot
Broad foot 		phenotype Musculoskeletal Diseases Finding 30 0.100 None 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype Finding 145 10 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0