KMT2C, lysine methyltransferase 2C, 58508

N. diseases: 114; N. variants: 11
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: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		disease Disease or Syndrome 1 6 0.400 None 1.000 3 6 2012 2018
CUI: C1290587
Disease: Failure of tooth eruption
Failure of tooth eruption 		disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1697450
Disease: obsolete Prominent epicanthal folds
obsolete Prominent epicanthal folds 		disease Congenital Abnormality 2 2 0.100 None 0 1
CUI: C4021805
Disease: Abnormality of the nasal bridge
Abnormality of the nasal bridge 		disease Anatomical Abnormality 3 2 0.100 None 0 1
CUI: C0023897
Disease: Liver Diseases, Parasitic
Liver Diseases, Parasitic 		group Digestive System Diseases; Infections Disease or Syndrome 9 0.300 None 1.000 1 2012 2012
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 9 25 0.010 None 1.000 1 2017 2017
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 9 11 0.010 None 1.000 1 2017 2017
CUI: C1334807
Disease: Mucinous carcinoma of breast
Mucinous carcinoma of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 10 0.010 None 1.000 1 2019 2019
CUI: C4531083
Disease: Mucinous gastric carcinoma
Mucinous gastric carcinoma 		disease Neoplastic Process 15 0.010 None 1.000 1 2016 2016
CUI: C0566899
Disease: Small labia majora
Small labia majora 		phenotype Finding 35 3 0.100 None 0 1
CUI: C0205650
Disease: Papillary adenoma
Papillary adenoma 		disease Neoplasms Neoplastic Process 39 0.010 None 1.000 1 2019 2019
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 53 4 0.100 None 0 1
CUI: C0424166
Disease: Social Anxiety
Social Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 57 6 0.010 None 1.000 1 2017 2017
CUI: C1368019
Disease: Paget Disease
Paget Disease 		disease Neoplasms Neoplastic Process 66 21 0.010 None < 0.001 1 2019 2019
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		phenotype Finding 73 10 0.100 None 0 1
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype Finding 104 13 0.100 None 0
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell 		disease Neoplasms Neoplastic Process 116 0.300 None 1.000 1 2012 2012
CUI: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform 		disease Neoplasms Neoplastic Process 117 0.300 None 1.000 1 2012 2012
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 119 3 0.300 None 1.000 1 2012 2012
CUI: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 123 0.300 None 1.000 1 2012 2012
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular 		disease Neoplasms Neoplastic Process 133 3 0.300 None 1.000 1 2012 2012
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 134 58 0.010 None < 0.001 1 2019 2019
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		disease Neoplasms Neoplastic Process 135 0.300 None 1.000 1 2012 2012
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		disease Neoplasms Neoplastic Process 138 0.300 None 1.000 1 2014 2014
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		disease Neoplasms Neoplastic Process 143 5 0.300 None 1.000 1 2014 2014