IFT80, intraflagellar transport 80, 57560

N. diseases: 109; N. variants: 10
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: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 2 0.500 None 1.000 3 2011 2012
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 21 13 0.020 None 1.000 2 2009 2011
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.320 None 1.000 2 2018 2019
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 27 6 0.010 None 1.000 1 2019 2019
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2011 2011
CUI: C0376154
Disease: Skin callus
Skin callus 		disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None 1.000 1 2020 2020
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		phenotype Respiratory Tract Diseases Pathologic Function 24 5 0.300 None 1.000 1 2007 2007
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.500 None 1.000 1 2007 2007
CUI: C0039978
Disease: Thoracic Diseases
Thoracic Diseases 		group Respiratory Tract Diseases Disease or Syndrome 5 0.300 None 1.000 1 2007 2007
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 108 0.200 None 1.000 1 2011 2011
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype Eye Diseases Pathologic Function 125 2 0.300 None 1.000 1 2007 2007
CUI: C2910340
Disease: Asphyxiating thoracic dysplasia [Jeune]
Asphyxiating thoracic dysplasia [Jeune] 		disease Disease or Syndrome 5 0.200 None 1.000 1 2011 2011
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		disease Musculoskeletal Diseases; Respiratory Tract Diseases Congenital Abnormality 5 0.200 None 1.000 1 2011 2011
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2018 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None 1.000 1 2020 2020
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 0.010 None 1.000 1 2020 2020
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.300 None 1.000 1 2007 2007
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.300 None 1.000 1 2007 2007
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None 1.000 1 2020 2020
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.400 None 1.000 1 2007 2007
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 0.010 None 1.000 1 2019 2019
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.010 None 1.000 1 2009 2009
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		group Musculoskeletal Diseases Disease or Syndrome 82 2 0.300 None 1.000 1 2007 2007
CUI: C0004044
Disease: Asphyxia
Asphyxia 		phenotype Pathological Conditions, Signs and Symptoms; Wounds and Injuries Pathologic Function 3 0.300 None 1.000 1 2007 2007