PSMC3IP, PSMC3 interacting protein, 29893

N. diseases: 53; N. variants: 0
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3280471
Disease: OVARIAN DYSGENESIS 3
OVARIAN DYSGENESIS 3
disease Disease or Syndrome 1 0.500 moderate 1.000 1 2014 2014
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 8 1 0.300 None 1.000 1 2011 2011
CUI: C4024640
Disease: Aplasia/hypoplasia of the uterus
Aplasia/hypoplasia of the uterus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 8 0.100 None 0
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 11 0.310 None 1.000 2 2011 2018
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome; Congenital Abnormality 14 11 0.010 None 1.000 1 2013 2013
CUI: C4025170
Disease: Osteoporosis of vertebrae
Osteoporosis of vertebrae
disease Disease or Syndrome 15 0.100 None 0
CUI: C4023911
Disease: Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the breasts
phenotype Finding 16 0.100 None 0
CUI: C0238122
Disease: Fallopian Tube Carcinoma
Fallopian Tube Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 18 2 0.010 None 1.000 1 2013 2013
CUI: C0266371
Disease: Streak ovary
Streak ovary
disease Congenital Abnormality 21 0.100 None 0
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels
phenotype Finding 33 0.100 None 0
Increased circulating gonadotropin level
phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair
phenotype Finding 42 0.100 None 0
CUI: C0425957
Disease: Secondary amenorrhea
Secondary amenorrhea
phenotype Pathological Conditions, Signs and Symptoms Finding 49 0.100 None 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility
phenotype Finding 50 0.100 None 0
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 53 6 0.100 None 0
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 58 2 0.100 None 0
CUI: C0879615
Disease: Stromal Neoplasm
Stromal Neoplasm
disease Neoplasms Neoplastic Process 86 1 0.010 None 1.000 1 2017 2017
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 102 25 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C0010709
Disease: Cyst
Cyst
disease Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome 221 6 0.010 None 1.000 1 2013 2013
CUI: C0004509
Disease: Azoospermia
Azoospermia
disease Male Urogenital Diseases Disease or Syndrome 254 70 0.020 None 1.000 2 2009 2018
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.120 None 1.000 2 2011 2014