Disease: Acephalic spermatozoa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022698
Disease: Acephalic spermatozoa
Acephalic spermatozoa 		0.120 GeneticVariation disease BEFREE Here, we report by whole-exome sequencing the identification of homozygous and compound heterozygous truncating mutations in PMFBP1 of two unrelated individuals with acephalic spermatozoa. 30298696 2019
CUI: C4022698
Disease: Acephalic spermatozoa
Acephalic spermatozoa 		0.120 Biomarker disease BEFREE The disruption of Pmfbp1 in male mice led to infertility due to the production of acephalic spermatozoa and the disruption of PMFBP1's cooperation with SUN5 and SPATA6, which plays a role in connecting sperm head to the tail. 30032984 2018
CUI: C4022698
Disease: Acephalic spermatozoa
Acephalic spermatozoa 		0.120 Biomarker disease HPO