Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19 		0.800 GeneticVariation disease UNIPROT Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. 29449551 2018
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19 		0.800 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. 28552195 2017
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19 		0.800 GeneticVariation disease UNIPROT Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. 28552195 2017
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19 		0.800 Biomarker disease MGD Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. 28552195 2017
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19 		0.800 CausalMutation disease CLINVAR
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.300 GermlineCausalMutation disease ORPHANET Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities. 31004071 2019
CUI: C0021359
Disease: Infertility
Infertility 		0.100 Biomarker phenotype HPO
CUI: C4539786
Disease: Absent sperm flagella
Absent sperm flagella 		0.100 Biomarker phenotype HPO
CUI: C4539787
Disease: Short sperm flagella
Short sperm flagella 		0.100 Biomarker phenotype HPO
CUI: C4539789
Disease: Coiled sperm flagella
Coiled sperm flagella 		0.100 Biomarker phenotype HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 GeneticVariation phenotype BEFREE Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. 29449551 2018