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: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.330 moderate 1.000 3 2011 2018
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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.300 None 1.000 1 2007 2007
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.300 None 1.000 1 2007 2007
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: 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
CUI: C0266371
Disease: Streak ovary
Streak ovary 		disease Congenital Abnormality 21 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		phenotype Finding 33 0.100 None 0
CUI: C0425957
Disease: Secondary amenorrhea
Secondary amenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Finding 49 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: C0003706
Disease: Arachnodactyly
Arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 102 25 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C1862265
Disease: Increased circulating gonadotropin level
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: C0520927
Disease: Decreased fertility
Decreased fertility 		phenotype Finding 50 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: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 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