FERMT3, fermitin family member 3, 83706

N. diseases: 63; N. variants: 9
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: C2748536
Disease: Leukocyte Adhesion Deficiency, Type III
Leukocyte Adhesion Deficiency, Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 7 6 0.930 definitive 1.000 17 6 2006 2020
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 114 26 0.320 strong 1.000 3 2012 2019
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 74 5 0.310 None 1.000 2 2008 2017
CUI: C3645711
Disease: Congenital Osteopetrosis
Congenital Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 4 0.300 None 1.000 1 2008 2008
CUI: C3179239
Disease: Osteopetrosis Autosomal Dominant Type 2
Osteopetrosis Autosomal Dominant Type 2 		disease Musculoskeletal Diseases Disease or Syndrome 4 7 0.300 None 1.000 1 2008 2008
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 59 5 0.300 None 1.000 1 2008 2008
CUI: C0019080
Disease: Hemorrhage
Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 47 0.300 None 1.000 1 2008 2008
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.200 None 1.000 1 2012 2012
CUI: C1299247
Disease: Primary malignant neoplasm of ovary and other uterine adnexa
Primary malignant neoplasm of ovary and other uterine adnexa 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 6 0.200 None 1.000 1 2012 2012
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.200 None 1.000 1 2012 2012
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		disease Disease or Syndrome 14 12 0.100 None 0.909 11 2009 2017
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 1.000 1 1 2011 2011
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C0151854
Disease: Abnormal platelets
Abnormal platelets 		phenotype Hemic and Lymphatic Diseases Cell or Molecular Dysfunction 11 0.100 None 0
CUI: C0149727
Disease: Abnormality of the lymph nodes
Abnormality of the lymph nodes 		phenotype Finding 3 0.100 None 0
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.100 None 0
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom 54 2 0.100 None 0
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 168 4 0.100 None 0
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom 127 21 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype Infections Finding 69 0.100 None 0