PSMC3IP, PSMC3 interacting protein, 29893

N. diseases: 53; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.330 GeneticVariation disease BEFREE The PSMC3IP mutation provides additional evidence that mutations in meiotic homologous recombination and DNA repair genes result in distinct female and male reproductive phenotypes, including delayed puberty and primary amenorrhea caused by POI (XX gonadal dysgenesis) in females but isolated azoospermia with normal pubertal development in males. 29240891 2018
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.330 GeneticVariation disease BEFREE The aim of this study was to investigate a group of patients with POI for possible PSMC3IP mutations. 24481226 2014
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX
0.310 GeneticVariation disease BEFREE The PSMC3IP mutation provides additional evidence that mutations in meiotic homologous recombination and DNA repair genes result in distinct female and male reproductive phenotypes, including delayed puberty and primary amenorrhea caused by POI (XX gonadal dysgenesis) in females but isolated azoospermia with normal pubertal development in males. 29240891 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.120 GeneticVariation disease BEFREE No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency. 24481226 2014
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.020 GeneticVariation disease BEFREE The PSMC3IP mutation provides additional evidence that mutations in meiotic homologous recombination and DNA repair genes result in distinct female and male reproductive phenotypes, including delayed puberty and primary amenorrhea caused by POI (XX gonadal dysgenesis) in females but isolated azoospermia with normal pubertal development in males. 29240891 2018
CUI: C0238122
Disease: Fallopian Tube Carcinoma
Fallopian Tube Carcinoma
0.010 GeneticVariation disease BEFREE GT198 has germ line mutations in familial and early onset breast and ovarian cancers and recurrent somatic mutations in sporadic fallopian tube cancers. 24097974 2013
CUI: C3280471
Disease: OVARIAN DYSGENESIS 3
OVARIAN DYSGENESIS 3
0.500 Biomarker disease CTD_human
CUI: C3280471
Disease: OVARIAN DYSGENESIS 3
OVARIAN DYSGENESIS 3
0.500 Biomarker disease GENOMICS_ENGLAND No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency. 24481226 2014
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.330 Biomarker disease BEFREE By analogy to other XX-GD genes, PSMC3IP is also a candidate gene for premature ovarian failure, and its role in folliculogenesis should be further investigated. 21963259 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.330 Biomarker disease GENOMICS_ENGLAND The aim of this study was to investigate a group of patients with POI for possible PSMC3IP mutations. 24481226 2014
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.300 Biomarker group CTD_human Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model. 17013881 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.300 Biomarker disease CTD_human Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model. 17013881 2007
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.120 Biomarker disease BEFREE By analogy to other XX-GD genes, PSMC3IP is also a candidate gene for premature ovarian failure, and its role in folliculogenesis should be further investigated. 21963259 2011
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.120 Biomarker disease HPO
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis
0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.100 Biomarker disease HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 Biomarker phenotype HPO
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.100 Biomarker disease HPO
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
0.100 Biomarker disease HPO
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea
0.100 Biomarker disease HPO
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels
0.100 Biomarker phenotype HPO