POF1B, POF1B actin binding protein, 79983

N. diseases: 17; N. variants: 1
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: C1845105
Disease: Premature Ovarian Failure 2b
Premature Ovarian Failure 2b 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 1 1 0.700 moderate 1.000 5 1 2004 2016
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.400 moderate 0.909 11 1 2000 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.200 None 0.917 12 1 2000 2019
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: C0241240
Disease: Tall stature
Tall stature 		phenotype Finding 79 14 0.100 None 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 0
CUI: C1364667
Disease: Adrenalitis
Adrenalitis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0342409
Disease: Hypophysitis
Hypophysitis 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2018 2018
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 44 18 0.010 None 1.000 1 2018 2018
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.010 None 1.000 1 2018 2018
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None 1.000 1 2015 2015
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.010 None 1.000 1 2018 2018
CUI: C0018213
Disease: Graves Disease
Graves Disease 		disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 585 352 0.010 None 1.000 1 2018 2018
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 43 4 0.010 None 1.000 1 2006 2006