HOXA11, homeobox A11, 3207

N. diseases: 111; N. variants: 5
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.
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 1 0.400 None 1.000 1 1 2000 2000
CUI: C0740268
Disease: Pelvic prolapse
Pelvic prolapse
disease Disease or Syndrome 2 0.010 None 1.000 1 2008 2008
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.610 limited 1.000 3 2000 2015
CUI: C1858312
Disease: Megakaryocytopenia
Megakaryocytopenia
phenotype Finding 3 0.100 None 0
CUI: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 5 0.100 None 0
CUI: C0152240
Disease: Uterus bilocularis
Uterus bilocularis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 6 0.020 None 0.500 2 2016 2017
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 7 0.110 None 1.000 1 2006 2006
Congenital amegakaryocytic thrombocytopenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 7 25 0.010 None 1.000 1 2006 2006
Limited pronation/supination of forearm
phenotype Finding 7 3 0.100 None 0
CUI: C1854910
Disease: Shallow acetabular fossae
Shallow acetabular fossae
phenotype Finding 8 0.100 None 0
Thrombocytopenia-Absent Radius Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 12 5 0.010 None 1.000 1 2002 2002
CUI: C1865847
Disease: Ulnar bowing
Ulnar bowing
phenotype Finding 12 2 0.100 None 0
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 17 5 0.010 None < 0.001 1 1 2018 2018
CUI: C0221376
Disease: Hydrosalpinx (disease)
Hydrosalpinx (disease)
disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 18 0.010 None 1.000 1 2015 2015
CUI: C1720887
Disease: Female Urogenital Diseases
Female Urogenital Diseases
group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 18 0.300 None 1.000 1 2005 2005
CUI: C0280255
Disease: stage, endometrial carcinoma
stage, endometrial carcinoma
phenotype Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 19 1 0.010 None 1.000 1 2003 2003
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 3 0.100 None 0
CUI: C1859399
Disease: Radial bowing
Radial bowing
phenotype Anatomical Abnormality 19 2 0.100 None 0
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 25 7 0.020 None 1.000 2 2006 2010
CUI: C0027086
Disease: Myoma
Myoma
disease Neoplasms Neoplastic Process 28 4 0.010 None 1.000 1 2010 2010
CUI: C0156369
Disease: Uterine Polyp
Uterine Polyp
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 41 0.010 None 1.000 1 2011 2011
CUI: C0032987
Disease: Ectopic Pregnancy
Ectopic Pregnancy
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 48 0.010 None 1.000 1 2004 2004
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 48 9 0.010 None 1.000 1 2011 2011
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: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 59 4 0.300 None 1.000 1 1995 1995