FANCD2, FA complementation group D2, 2177

N. diseases: 272; N. variants: 23
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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2013 2013
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		phenotype Neoplasms Neoplastic Process 1145 24 0.010 None 1.000 1 2013 2013
CUI: C0280317
Disease: Squamous cell carcinoma of tonsil
Squamous cell carcinoma of tonsil 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 30 0.010 None 1.000 1 2015 2015
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.010 None 1.000 1 2005 2005
CUI: C0338457
Disease: Aphasia, Progressive
Aphasia, Progressive 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 10 2 0.010 None 1.000 1 1994 1994
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.010 None 1.000 1 1996 1996
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None < 0.001 1 2018 2018
CUI: C0346156
Disease: Benign neoplasm of breast
Benign neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 46 0.010 None 1.000 1 2019 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2004 2004
CUI: C0376544
Disease: Hematopoietic Neoplasms
Hematopoietic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 322 2 0.010 None 1.000 1 2016 2016
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 2001 2001
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2019 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2011 2011
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 2014 2014
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 1990 1990
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2014 2014
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.010 None 1.000 1 2011 2011
CUI: C0279583
Disease: Childhood T Acute Lymphoblastic Leukemia
Childhood T Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 119 2 0.010 None 1.000 1 2012 2012
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2015 2015
CUI: C0030354
Disease: Papilloma
Papilloma 		disease Neoplasms Neoplastic Process 273 27 0.010 None 1.000 1 2016 2016
CUI: C0036631
Disease: Seminoma
Seminoma 		disease Neoplasms Neoplastic Process 311 12 0.010 None 1.000 1 2012 2012
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.010 None 1.000 1 2013 2013
CUI: C0040425
Disease: Tonsillitis
Tonsillitis 		disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 48 9 0.010 None 1.000 1 2015 2015
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.010 None 1.000 1 2019 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2018 2018