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: C4505291
Disease: Xp21 Contiguous Gene Deletion Syndrome
Xp21 Contiguous Gene Deletion Syndrome 		disease Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 2 1994 2003
CUI: C1868690
Disease: Hypoadrenocorticism, familial
Hypoadrenocorticism, familial 		disease Endocrine System Diseases Disease or Syndrome 2 1 0.300 None 1.000 2 1994 2003
CUI: C0795887
Disease: Complex Glycerol Kinase Deficiency
Complex Glycerol Kinase Deficiency 		disease Endocrine System Diseases Disease or Syndrome 3 0.330 None 1.000 5 1994 2018
CUI: C0268418
Disease: Deficiency of glycerol kinase
Deficiency of glycerol kinase 		disease Disease or Syndrome 3 5 0.040 None 1.000 4 1997 2018
CUI: C0151467
Disease: Addisonian crisis
Addisonian crisis 		disease Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0403809
Disease: Primary spermatogenic failure
Primary spermatogenic failure 		disease Disease or Syndrome 4 0.010 None < 0.001 1 2011 2011
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2002 2002
CUI: C2874202
Disease: Constitutional delay of puberty
Constitutional delay of puberty 		disease Disease or Syndrome 4 3 0.010 None 1.000 1 1999 1999
CUI: C4521591
Disease: Peripheral precocious puberty
Peripheral precocious puberty 		disease Endocrine System Diseases Disease or Syndrome 5 0.020 None 1.000 2 2001 2009
CUI: C1846009
Disease: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 8 7 0.010 None 1.000 1 2006 2006
CUI: C4284088
Disease: MIRAGE SYNDROME
MIRAGE SYNDROME 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 4 0.010 None 1.000 1 2020 2020
CUI: C4696948
Disease: Trauma symptoms
Trauma symptoms 		phenotype Sign or Symptom 8 0.010 None 1.000 1 2018 2018
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 11 1 0.310 None 1.000 2 2013 2017
CUI: C0677483
Disease: Carcinoma testes
Carcinoma testes 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 11 2 0.010 None 1.000 1 2012 2012
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease Disease or Syndrome 11 0.300 None 1.000 1 2008 2008
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 11 0.100 None 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C0339002
Disease: Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type 		disease Mental Disorders Mental or Behavioral Dysfunction 12 1 0.010 None 1.000 1 2013 2013
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 12 0.100 None 0
CUI: C0342544
Disease: Idiopathic central precocious puberty
Idiopathic central precocious puberty 		disease Endocrine System Diseases Disease or Syndrome 13 5 0.010 None 1.000 1 2016 2016
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 13 2 0.100 None 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		disease Anatomical Abnormality 13 2 0.100 None 0
CUI: C4022995
Disease: Sex reversal
Sex reversal 		phenotype Finding 14 0.100 None 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C0857899
Disease: Decreased circulating aldosterone level
Decreased circulating aldosterone level 		phenotype Immune System Diseases; Endocrine System Diseases Finding 16 0.100 None 0