Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748234
Disease: SPERMATOGENIC FAILURE 31
SPERMATOGENIC FAILURE 31 		0.400 GermlineCausalMutation disease ORPHANET Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. 30032984 2018
CUI: C4748234
Disease: SPERMATOGENIC FAILURE 31
SPERMATOGENIC FAILURE 31 		0.400 CausalMutation disease CLINVAR
CUI: C0021364
Disease: Male infertility
Male infertility 		0.310 GeneticVariation phenotype BEFREE PMFBP1 mutation-associated male infertility could be successfully overcome by intracytoplasmic sperm injection (ICSI) in both mouse and human. 30032984 2018
CUI: C4310674
Disease: SPERMATOGENIC FAILURE 16
SPERMATOGENIC FAILURE 16 		0.310 GermlineCausalMutation disease ORPHANET Thus, mutations in PMFBP1 are an important cause of infertility in men with acephalic spermatozoa syndrome. 30032984 2018
CUI: C4310674
Disease: SPERMATOGENIC FAILURE 16
SPERMATOGENIC FAILURE 16 		0.310 GeneticVariation disease BEFREE Thus, mutations in PMFBP1 are an important cause of infertility in men with acephalic spermatozoa syndrome. 30032984 2018
CUI: C0021364
Disease: Male infertility
Male infertility 		0.310 Biomarker phenotype HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.310 Biomarker phenotype MGD
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
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.100 GeneticVariation phenotype GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.100 Biomarker disease HPO
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		0.100 Biomarker disease HPO
CUI: C4022700
Disease: Sperm mid-piece anomaly
Sperm mid-piece anomaly 		0.100 Biomarker phenotype HPO
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 AlteredExpression disease BEFREE The brain tumor cells express cytg/STAP, but in contrast to the lung metastases, they also express SRF, Smad3, and phospho-Smad3. 18714394 2008