HOXD13, homeobox D13, 3239

N. diseases: 259; N. variants: 19
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: C2699746
Disease: Syndactyly, type 2
Syndactyly, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 15 12 1.000 None 0.978 46 10 1993 2019
CUI: C1853137
Disease: BRACHYDACTYLY-SYNDACTYLY SYNDROME
BRACHYDACTYLY-SYNDACTYLY SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 2 0.710 None 1.000 4 2 2003 2014
CUI: C1861348
Disease: Syndactyly, type v
Syndactyly, type v
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 2 0.710 None 1.000 3 2 2003 2014
CUI: C1862102
Disease: BRACHYDACTYLY, TYPE E1
BRACHYDACTYLY, TYPE E1
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 5 3 0.700 None 1.000 4 2 2003 2014
CUI: C0220664
Disease: BRACHYDACTYLY, TYPE D
BRACHYDACTYLY, TYPE D
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 8 2 0.700 None 1.000 3 2 2003 2014
CUI: C1735591
Disease: VACTERL Association
VACTERL Association
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Congenital Abnormality 15 0.510 strong 1.000 1 2008 2008
CUI: C0039075
Disease: Syndactyly
Syndactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 127 26 0.500 None 1.000 10 1 1998 2017
CUI: C0220708
Disease: VATER Association
VATER Association
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 12 0.500 None 1.000 1 2008 2008
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.450 strong 0.833 6 1 1995 2017
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 59 4 0.400 None 0.952 21 1996 2019
BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME
disease Disease or Syndrome 1 1 0.400 None 1.000 1 1 2007 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.350 None 1.000 6 1997 2019
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.310 None 1.000 2 2007 2016
CUI: C0265553
Disease: Polysyndactyly
Polysyndactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 12 1 0.310 None 1.000 1 1995 1995
CUI: C0265312
Disease: Brachydactyly syndrome type E
Brachydactyly syndrome type E
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2003 2003
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.300 None 1.000 1 2016 2016
CUI: C4225671
Disease: VATER/VACTERL ASSOCIATION
VATER/VACTERL ASSOCIATION
disease Disease or Syndrome 8 2 0.300 None 1.000 1 2003 2003
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 239 16 0.300 None 1.000 1 2016 2016
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.300 None 1.000 1 2016 2016
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.200 None 1.000 2 2006 2016
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.150 None 1.000 5 2003 2016
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.120 None 1.000 2 2019 2019
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.120 None 1.000 2 1 2007 2017
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 127 83 0.110 None 1.000 1 1 2007 2007
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.110 None 1.000 1 1 2018 2018