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: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 8 31 1.000 definitive 1.000 36 18 1988 2019
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 3 0.720 None 1.000 5 3 1988 2013
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		disease Disease or Syndrome 4 7 0.700 None 1.000 10 7 1988 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.600 strong 0.917 12 2 2007 2018
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.450 None 1.000 5 2007 2016
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.410 strong 0.500 2 1 2017 2017
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.400 None 1.000 1 2010 2010
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.400 strong 0
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.340 None 0.750 4 1 2006 2016
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.340 None 0.750 4 1 2006 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.320 strong 0.667 3 2015 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.320 None 1.000 2 2013 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.320 None 1.000 2 2012 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.310 None 1.000 2 2010 2020
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		group Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 124 31 0.310 None 1.000 2 2004 2010
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 253 31 0.310 None 1.000 2 2010 2016
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.310 None < 0.001 1 2013 2013
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.310 None < 0.001 1 2013 2013
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.300 None 1.000 15 3 1998 2019
CUI: C1449862
Disease: Micronuclei, Genotoxicant-Induced
Micronuclei, Genotoxicant-Induced 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 2 2011 2013
CUI: C1449861
Disease: Micronuclei, Chromosome-Defective
Micronuclei, Chromosome-Defective 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 2 2011 2013
CUI: C3806565
Disease: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME 		disease Disease or Syndrome 1 3 0.300 None 1.000 1 3 2004 2004
CUI: C0311375
Disease: Arsenic Poisoning
Arsenic Poisoning 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 64 0.300 None 1.000 1 2003 2003
CUI: C0027658
Disease: Neoplasms, Germ Cell and Embryonal
Neoplasms, Germ Cell and Embryonal 		group Neoplasms Neoplastic Process 34 0.300 None 1.000 1 2010 2010
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype Finding 34 0.300 strong 1.000 1 2013 2013