SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
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: C0034013
Disease: Precocious Puberty
Precocious Puberty 		disease Endocrine System Diseases Disease or Syndrome 139 20 0.110 None 1.000 1 1 2020 2020
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.010 None 1.000 1 1 2020 2020
CUI: C0007130
Disease: Mucinous Adenocarcinoma
Mucinous Adenocarcinoma 		disease Neoplasms Neoplastic Process 159 10 0.010 None 1.000 1 2020 2020
CUI: C0013595
Disease: Eczema
Eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.100 None 1.000 1 1 2019 2019
CUI: C0043124
Disease: West Nile Fever
West Nile Fever 		disease Infections; Nervous System Diseases Disease or Syndrome 79 0.010 None 1.000 1 2019 2019
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 2019 2019
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 183 21 0.010 None 1.000 1 2019 2019
CUI: C1704274
Disease: Intrauterine adhesions
Intrauterine adhesions 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 24 0.010 None 1.000 1 2019 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.010 None < 0.001 1 2019 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2019 2019
CUI: C4045991
Disease: Perihilar Cholangiocarcinoma
Perihilar Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 41 0.010 None 1.000 1 2019 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.010 None 1.000 1 2019 2019
CUI: C0349579
Disease: Atypical Endometrial Hyperplasia
Atypical Endometrial Hyperplasia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 32 0.010 None 1.000 1 2019 2019
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.010 None 1.000 1 2019 2019
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.500 limited 1.000 1 2019 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 2 2019 2019
CUI: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 2019 2019
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		disease Disease or Syndrome 4 15 0.010 None 1.000 1 2019 2019
CUI: C4531084
Disease: Mucinous colorectal carcinoma
Mucinous colorectal carcinoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C0017416
Disease: Genital Neoplasms, Female
Genital Neoplasms, Female 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 12 4 0.010 None 1.000 1 2019 2019
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		disease Mental Disorders Mental or Behavioral Dysfunction 33 20 0.010 None 1.000 1 2019 2019
CUI: C1333394
Disease: Endometrial intraepithelial neoplasia
Endometrial intraepithelial neoplasia 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 15 0.010 None 1.000 1 2019 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2019 2019
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.010 None 1.000 1 2019 2019
CUI: C0879615
Disease: Stromal Neoplasm
Stromal Neoplasm 		disease Neoplasms Neoplastic Process 86 1 0.010 None 1.000 1 2019 2019