IFT43, intraflagellar transport 43, 112752

N. diseases: 84; N. variants: 28
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: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 10 12 0.610 None 1.000 4 2011 2018
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
disease Disease or Syndrome 1 2 0.600 None 1.000 5 2 2011 2018
CUI: C4693443
Disease: RETINITIS PIGMENTOSA 81
RETINITIS PIGMENTOSA 81
disease Disease or Syndrome 1 1 0.400 None 1.000 1 1 2017 2017
CUI: C3279807
Disease: CRANIOECTODERMAL DYSPLASIA 3
CRANIOECTODERMAL DYSPLASIA 3
disease Disease or Syndrome 2 0.300 None 1.000 4 2011 2018
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 moderate 1.000 1 2017 2017
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 None 0
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.110 None 1.000 1 2016 2016
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 11 22 0.110 None 1.000 1 1 2011 2011
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4
disease Disease or Syndrome 3 21 0.100 None 1.000 6 10 1992 2015
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2011 2011
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2012 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
CUI: C0002994
Disease: Angioedema
Angioedema
phenotype Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 18 8 0.100 None 1.000 1 1 2013 2013
CUI: C0042109
Disease: Urticaria
Urticaria
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.100 None 1.000 1 1 2013 2013
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth
phenotype Finding 71 10 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip
phenotype Finding 105 3 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 93 3 0.100 None 0
CUI: C1843112
Disease: Broad nail
Broad nail
phenotype Finding 9 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 96 103 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 85 3 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 112 9 0.100 None 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease Congenital Abnormality 32 16 0.100 None 0