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: C3887896
Disease: Primary Adrenal Insufficiency
Primary Adrenal Insufficiency 		disease Disease or Syndrome 27 2 0.100 None 1.000 14 1998 2020
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.090 None 1.000 9 2010 2019
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.050 None 1.000 5 1998 2006
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2009 2014
CUI: C0403809
Disease: Primary spermatogenic failure
Primary spermatogenic failure 		disease Disease or Syndrome 4 0.010 None < 0.001 1 2011 2011
CUI: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder) 		disease Disease or Syndrome 130 5 0.010 None 1.000 1 2018 2018
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		disease Neoplastic Process 245 80 0.010 None 1.000 1 2019 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1999 1999
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: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 2015 2015
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		disease Disease or Syndrome 66 14 0.010 None 1.000 1 1996 1996
CUI: C3544347
Disease: Intestinal fibrosis
Intestinal fibrosis 		phenotype Anatomical Abnormality 65 0.010 None 1.000 1 2019 2019
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2017 2017
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: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		disease Disease or Syndrome 26 0.010 None 1.000 1 1999 1999
CUI: C4696948
Disease: Trauma symptoms
Trauma symptoms 		phenotype Sign or Symptom 8 0.010 None 1.000 1 2018 2018
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		disease Neoplastic Process 167 41 0.010 None 1.000 1 2019 2019
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.010 None 1.000 1 2015 2015
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		phenotype Finding 33 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype Finding 129 0.100 None 0
CUI: C0266371
Disease: Streak ovary
Streak ovary 		disease Congenital Abnormality 21 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia 		phenotype Finding 23 1 0.100 None 0