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: C0001080
Disease: Achondroplasia
Achondroplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 12 1.000 definitive 0.966 133 7 1994 2018
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 5 1.000 1.000 30 1 1996 2015
Malignant neoplasm of urinary bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1143 157 0.800 0.920 85 7 1996 2018
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 18 12 0.800 0.968 73 12 1993 2018
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Congenital Abnormality 13 30 0.800 0.927 66 18 1973 2018
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 4 0.790 0.889 16 2 1993 2014
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.770 1.000 7 1 1996 2017
Lacrimoauriculodentodigital syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome 4 8 0.720 1.000 3 1 2006 2017
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Cardiovascular Diseases; Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1311 784 0.700 0.958 85 4 1995 2018
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 2 0.700 1.000 14 2 1999 2018
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 2 0.700 2 2 2006 2015
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
disease Neoplasms Disease or Syndrome 11 12 0.680 1.000 28 3 1994 2011
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1187 428 0.640 1.000 5 1 2013 2017
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1216 142 0.600 0.953 90 3 2001 2018
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 14 2 0.600 0.963 60 2 1995 2018
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.540 1.000 4 1 2000 2016
CUI: C4048328
Disease: cervical cancer
cervical cancer
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 964 87 0.530 0.667 4 1 1999 2013
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 123 4 0.520 1.000 2 2005 2006
CUI: C0036631
Disease: Seminoma
Seminoma
disease Neoplasms Neoplastic Process 228 13 0.510 1.000 1 1 2009 2009
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplastic Process 1161 165 0.500 0.926 69 7 2001 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.500 strong 0.944 65 8 1995 2017
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
disease Skin and Connective Tissue Diseases Neoplastic Process 27 12 0.500 1.000 26 8 1995 2016
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor
disease Endocrine System Diseases; Male Urogenital Diseases; Neoplasms Neoplastic Process 113 72 0.500 1 1 2009 2009
Nevus, Keratinocytic, Nonepidermolytic
disease Neoplasms Neoplastic Process 4 6 0.500 1 3 2006 2006
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Neoplastic Process 296 127 0.500 0