WDR48, WD repeat domain 48, 57599

N. diseases: 57; N. variants: 3
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2015 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 1 1999 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2015 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 1998 1998
CUI: C0024299
Disease: Lymphoma
Lymphoma 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.010 None 1.000 1 1994 1994
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 300 14 0.010 None 1.000 1 1997 1997
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms 		group Neoplasms Neoplastic Process 145 0.010 None 1.000 1 2002 2002
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2017 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2017 2017
CUI: C0231687
Disease: Spastic gait
Spastic gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 62 9 0.100 None 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		phenotype Finding 39 4 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy 		phenotype Finding 27 4 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0206180
Disease: Ki-1+ Anaplastic Large Cell Lymphoma
Ki-1+ Anaplastic Large Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 300 10 0.060 None 0.833 6 1996 2002
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.030 None 1.000 3 2007 2017
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.030 None 1.000 3 2007 2017
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor 		disease Pathological Conditions, Signs and Symptoms Neoplastic Process 92 2 0.020 None 1.000 2 2001 2002
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 1998 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2018 2018
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.010 None 1.000 1 2015 2015
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 431 2 0.010 None 1.000 1 1993 1993
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 1 2013 2013