MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
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: C0010709
Disease: Cyst
Cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome 221 6 0.010 None 1.000 1 2001 2001
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2018 2018
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.010 None 1.000 1 2019 2019
CUI: C0023530
Disease: Leukopenia
Leukopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.110 None 1.000 1 1 2011 2011
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.010 None 1.000 1 2017 2017
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		disease Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 98 8 0.010 None 1.000 1 2017 2017
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.010 None 1.000 1 1 2011 2011
CUI: C0029442
Disease: Osteomalacia
Osteomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 31 1 0.010 None 1.000 1 2018 2018
CUI: C0029883
Disease: Otitis Media with Effusion
Otitis Media with Effusion 		disease Otorhinolaryngologic Diseases Disease or Syndrome 110 1 0.010 None 1.000 1 2013 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2019 2019
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 202 16 0.010 None 1.000 1 2017 2017
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided 		disease Cardiovascular Diseases Disease or Syndrome 154 0.010 None 1.000 1 2019 2019
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 56 3 0.010 None 1.000 1 2005 2005
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis 		disease Stomatognathic Diseases Disease or Syndrome 64 8 0.010 None 1.000 1 2019 2019
CUI: C0271844
Disease: Parathyroid hyperplasia
Parathyroid hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 37 1 0.010 None 1.000 1 1978 1978
CUI: C0272285
Disease: Heparin-induced thrombocytopenia
Heparin-induced thrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 44 5 0.010 None 1.000 1 2019 2019
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 16 0.010 None 1.000 1 2000 2000
CUI: C0376356
Disease: Premenstrual Tension
Premenstrual Tension 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 94 144 0.010 None 1.000 1 2008 2008
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2017 2017
CUI: C0746883
Disease: Febrile Neutropenia
Febrile Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 58 14 0.010 None 1.000 1 2016 2016
CUI: C1274103
Disease: Oncogenic osteomalacia
Oncogenic osteomalacia 		disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 22 0.010 None 1.000 1 2016 2016
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.010 None 1.000 1 2013 2013
CUI: C1442907
Disease: Foreign body giant cell granuloma
Foreign body giant cell granuloma 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases; Wounds and Injuries Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1837501
Disease: Microcephaly, Primary Autosomal Recessive, 5
Microcephaly, Primary Autosomal Recessive, 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 81 0.010 None 1.000 1 2010 2010