IFT74, intraflagellar transport 74, 80173

N. diseases: 18; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310707
Disease: BARDET-BIEDL SYNDROME 20
BARDET-BIEDL SYNDROME 20 		0.500 Biomarker disease GENOMICS_ENGLAND Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776 2016
CUI: C4310707
Disease: BARDET-BIEDL SYNDROME 20
BARDET-BIEDL SYNDROME 20 		0.500 Biomarker disease GENOMICS_ENGLAND Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776 2016
CUI: C4310707
Disease: BARDET-BIEDL SYNDROME 20
BARDET-BIEDL SYNDROME 20 		0.500 Biomarker disease GENOMICS_ENGLAND Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776 2016
CUI: C4310707
Disease: BARDET-BIEDL SYNDROME 20
BARDET-BIEDL SYNDROME 20 		0.500 Biomarker disease CTD_human
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.200 Biomarker disease MGD
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal 		0.200 Biomarker disease MGD
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		0.200 Biomarker disease MGD
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.200 Biomarker disease MGD
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASDB Common variants conferring risk of schizophrenia. 19571808 2009
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.100 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.100 Biomarker disease HPO
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.010 GeneticVariation disease BEFREE In this study, we investigated its role in sperm flagella formation and discovered that mice deficiency in Ift74 gene in male germ cells were infertile with low sperm count and immotile sperm. 31004481 2019
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.010 GeneticVariation disease BEFREE Finally, we report a deletion and a splice site mutation in IFT74, inherited under a recessive paradigm, defining a candidate BBS locus. 27486776 2016
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation disease BEFREE The results revealed that the common variations in IFT74 and GRN neither constitute strong ALS risk factors nor modify the age-at-onset. 17383054 2008