MT1L, metallothionein 1L, pseudogene, 4500

N. diseases: 49; N. variants: 1
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: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 28 0.010 None 1.000 1 2020 2020
CUI: C1305968
Disease: Eccrine dermal cylindroma
Eccrine dermal cylindroma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 12 3 0.010 None 1.000 1 2004 2004
CUI: C0025587
Disease: Metatarsalgia
Metatarsalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 15 0.010 None 1.000 1 2018 2018
CUI: C4285716
Disease: Melatonin deficiency
Melatonin deficiency 		disease Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C3714542
Disease: Lymphoma, Diffuse
Lymphoma, Diffuse 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 49 0.010 None 1.000 1 2005 2005
CUI: C0018023
Disease: Nodular Goiter
Nodular Goiter 		disease Endocrine System Diseases Disease or Syndrome 55 12 0.010 None 1.000 1 2018 2018
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 137 52 0.010 None 1.000 1 2000 2000
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease Eye Diseases Disease or Syndrome 148 45 0.010 None 1.000 1 2017 2017
CUI: C0206650
Disease: Fibroadenoma
Fibroadenoma 		disease Neoplasms Neoplastic Process 151 1 0.010 None 1.000 1 2019 2019
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 0.010 None 1.000 1 2001 2001
CUI: C0752304
Disease: Hypoxic-Ischemic Encephalopathy
Hypoxic-Ischemic Encephalopathy 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 182 12 0.010 None 1.000 1 2018 2018
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		group Endocrine System Diseases Disease or Syndrome 230 26 0.010 None 1.000 1 2012 2012
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.010 None 1.000 1 2011 2011
CUI: C0027697
Disease: Nephritis
Nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 296 40 0.010 None 1.000 1 2008 2008
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 349 50 0.010 None 1.000 1 2003 2003
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.010 None 1.000 1 2019 2019
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.040 None 0.750 4 2002 2008
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 421 15 0.010 None 1.000 1 2018 2018
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.010 None 1.000 1 2003 2003
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 503 64 0.010 None 1.000 1 2008 2008
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 504 30 0.010 None 1.000 1 2003 2003
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 2019 2019
CUI: C0018213
Disease: Graves Disease
Graves Disease 		disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 585 352 0.020 None 1.000 2 2012 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 620 64 0.010 None 1.000 1 2013 2013
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2002 2002