KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
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: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype Finding 91 19 0.100 None 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 12 1 2005 2016
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 105 10 0.100 None 0
CUI: C1843108
Disease: Short palm
Short palm 		phenotype Finding 110 13 0.100 None 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		disease Congenital Abnormality 113 5 0.100 None 0
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		disease Skin and Connective Tissue Diseases Disease or Syndrome 114 54 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		disease Neoplasms Neoplastic Process 117 6 0.010 None 1.000 1 2011 2011
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype Finding 129 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 21 0.100 None 0
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 134 0.300 None 1.000 1 2011 2011
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.100 None 0.900 10 1992 2018
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2010 2010
CUI: C0020490
Disease: Hyperopia
Hyperopia 		disease Eye Diseases Disease or Syndrome 142 29 0.100 None 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.100 None 1.000 2 2 2012 2015
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2010 2010
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 148 18 0.100 None 0
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 150 18 0.010 None 1.000 1 2019 2019
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype Finding 152 6 0.100 None 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 1 2010 2010
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.100 None 0
CUI: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
Collecting Duct Carcinoma of the Kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 162 0.300 None 1.000 1 2011 2011
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0