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: C0342538
Disease: Constitutional delay of growth and puberty
Constitutional delay of growth and puberty 		disease Disease or Syndrome 16 7 0.040 None 0.750 4 2 2006 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.040 None 1.000 4 1 2000 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2007 2018
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		disease Disease or Syndrome 26 0.030 None 1.000 3 2003 2017
CUI: C0342381
Disease: Idiopathic growth hormone deficiency
Idiopathic growth hormone deficiency 		disease Disease or Syndrome 10 0.200 None 1.000 1 2005 2005
CUI: C2874188
Disease: Isolated deficiency of pituitary hormone
Isolated deficiency of pituitary hormone 		disease Disease or Syndrome 8 0.200 None 1.000 1 2005 2005
CUI: C2874189
Disease: Necrosis of pituitary gland (postpartum)
Necrosis of pituitary gland (postpartum) 		phenotype Pathologic Function 8 0.200 None 1.000 1 2005 2005
CUI: C2874190
Disease: Pituitary short stature
Pituitary short stature 		disease Disease or Syndrome 8 0.200 None 1.000 1 2005 2005
CUI: C2874202
Disease: Constitutional delay of puberty
Constitutional delay of puberty 		disease Disease or Syndrome 4 3 0.010 None 1.000 1 1 2010 2010
CUI: C4087504
Disease: Peritoneal dissemination
Peritoneal dissemination 		disease Neoplastic Process 170 0.010 None 1.000 1 2011 2011
CUI: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.010 None 1.000 1 2018 2018
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease Acquired Abnormality 120 1 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype Finding 129 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 96 19 0.100 None 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype Finding 44 6 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development 		phenotype Finding 24 0.100 None 0
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair 		phenotype Finding 42 0.100 None 0
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair 		phenotype Finding 39 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		phenotype Finding 57 0.100 None 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		phenotype Finding 44 0.100 None 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		disease Finding 64 0.100 None 0
CUI: C4022675
Disease: Increased female libido
Increased female libido 		phenotype Finding 18 0.100 None 0
CUI: C4025901
Disease: Abnormality of body height
Abnormality of body height 		disease Finding 18 0.100 None 0