ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
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 0.030 None 1.000 3 1999 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.020 None 1.000 2 2008 2010
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 7 58 0.320 None 1.000 2 2001 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.020 None 1.000 2 2008 2013
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.320 None 1.000 2 2006 2011
CUI: C4048328
Disease: cervical cancer
cervical cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.010 None 1.000 1 2016 2016
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2008 2008
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 69 82 0.010 None 1.000 1 2011 2011
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.010 None 1.000 1 2007 2007
CUI: C0023530
Disease: Leukopenia
Leukopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.010 None 1.000 1 2010 2010
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans 		disease Neoplasms Neoplastic Process 78 0.010 None 1.000 1 2006 2006
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.110 None 1.000 1 1994 1994
CUI: C0023051
Disease: Laryngeal Diseases
Laryngeal Diseases 		group Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 159 7 0.010 None 1.000 1 2006 2006
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2002 2002
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 2011 2011
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 122 17 0.010 None 1.000 1 2014 2014
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 270 139 0.010 None 1.000 1 2007 2007
CUI: C2717836
Disease: Steroid Sulfatase Deficiency Disease
Steroid Sulfatase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 181 5 0.010 None 1.000 1 2011 2011
CUI: C2931277
Disease: Pena Shokeir syndrome Type 2
Pena Shokeir syndrome Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 0.300 None 1.000 1 2014 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 2003 2003
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 10 0.010 None 1.000 1 2011 2011
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2013 2013
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid 		disease Neoplasms Neoplastic Process 79 4 0.010 None 1.000 1 2006 2006
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma 		disease Neoplasms Neoplastic Process 299 4 0.010 None 1.000 1 2006 2006
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2017 2017