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.
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 5 0.600 None 1.000 8 5 2006 2017
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 0.500 None 1.000 2 2012 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.340 None 1.000 5 2016 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.320 None 1.000 2 2011 2011
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.320 None 1.000 2 2011 2011
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 strong 1.000 1 2015 2015
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.300 None 1.000 1 2018 2018
CUI: C1153706
Disease: Endometrial adenocarcinoma
Endometrial adenocarcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 212 5 0.300 None 0
CUI: C0346191
Disease: Carcinoma in situ of endometrium
Carcinoma in situ of endometrium
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 18 0.300 None 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.120 None 1.000 2 1 2015 2016
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.120 None 1.000 2 2015 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2018 2018
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 12 1 2011 2017
Megalencephaly cutis marmorata telangiectatica congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 18 18 0.100 None 1.000 4 1 2012 2017
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma
disease Neoplastic Process 7 12 0.100 None 1.000 1 1 2011 2011
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure
phenotype Finding 73 10 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe
phenotype Finding 16 1 0.100 None 0
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis
phenotype Musculoskeletal Diseases Finding 23 5 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1835194
Disease: Thick corpus callosum
Thick corpus callosum
phenotype Finding 4 1 0.100 None 0