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: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.020 None 1.000 2 2014 2017
CUI: C0002792
Disease: anaphylaxis
anaphylaxis 		phenotype Immune System Diseases Disease or Syndrome 180 4 0.020 None 1.000 2 2017 2019
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 146 6 0.020 None 1.000 2 2013 2014
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 56 38 0.010 None 1.000 1 1978 1978
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: C3888391
Disease: Nonnuclear polymorphic congenital cataract
Nonnuclear polymorphic congenital cataract 		disease Congenital Abnormality 71 0.010 None 1.000 1 2010 2010
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: C3887650
Disease: Adult Rickets
Adult Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 47 0.010 None 1.000 1 2018 2018
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		disease Neoplasms Neoplastic Process 615 39 0.010 None 1.000 1 2008 2008
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2006 2006
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.010 None 1.000 1 2008 2008
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: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2018 2018
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: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.010 None 1.000 1 2018 2018
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 466 19 0.010 None 1.000 1 2010 2010
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 2010 2010
CUI: C3711376
Disease: Isodicentric Chromosome 15 Syndrome
Isodicentric Chromosome 15 Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 39 0.010 None 1.000 1 2009 2009
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2015 2015
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: C1378703
Disease: Renal carcinoma
Renal carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 665 21 0.010 None 1.000 1 2014 2014
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 184 46 0.010 None 1.000 1 2016 2016