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: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 279 125 1.000 0.971 160 18 1988 2018
Multiple Endocrine Neoplasia Type 2b
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Neoplasms Neoplastic Process 10 16 1.000 1.000 82 16 1988 2018
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 134 79 0.900 0.954 249 34 1993 2018
Multiple Endocrine Neoplasia Type 2a
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Neoplasms Neoplastic Process 63 36 0.800 0.949 399 35 1988 2018
Familial medullary thyroid carcinoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Neoplasms Neoplastic Process 35 41 0.800 0.974 184 32 1986 2016
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid
disease Endocrine System Diseases; Neoplasms Neoplastic Process 238 56 0.700 0.946 399 41 1992 2018
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 720 81 0.700 strong 0.981 159 4 1990 2018
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Endocrine System Diseases; Neoplasms Neoplastic Process 475 35 0.700 0.917 99 3 1993 2018
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 26 10 0.640 1.000 8 5 1997 2015
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 16 15 0.610 1.000 6 4 1994 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 570 74 0.600 0.949 215 7 1990 2018
CUI: C1859049
Disease: CCHS WITH HIRSCHSPRUNG DISEASE
CCHS WITH HIRSCHSPRUNG DISEASE
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Congenital Abnormality; Disease or Syndrome 9 6 0.600 3 4 1998 2004
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.580 1.000 10 2008 2016
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 15 0.550 0.800 5 2001 2014
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Neoplasms Disease or Syndrome 48 8 0.500 0.976 135 7 1987 2018
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
phenotype Finding 8 46 0.500 3 4 2000 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.430 1.000 3 2018 2018
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
disease Neoplasms Neoplastic Process 29 3 0.410 1.000 2 2002 2006
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
disease Neoplastic Process 504 40 0.400 0.982 55 1 1992 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2242 362 0.400 1.000 26 2009 2018
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.400 1.000 10 1 2003 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 limited 0
CUI: C0206693
Disease: Medullary carcinoma
Medullary carcinoma
disease Neoplasms Neoplastic Process 48 0.390 0.857 10 1991 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.370 1.000 9 2008 2016
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 24 3 0.350 1.000 7 2 1994 2015