KISS1R, KISS1 receptor, 84634

N. diseases: 195; N. variants: 14
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.
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
disease Disease or Syndrome 1 6 0.900 None 1.000 10 6 2003 2014
CUI: C3805879
Disease: PRECOCIOUS PUBERTY, CENTRAL, 1
PRECOCIOUS PUBERTY, CENTRAL, 1
disease Disease or Syndrome 1 1 0.600 strong 1.000 2 1 2008 2013
HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
disease Finding 1 5 0.100 None 0 5
CUI: C0233949
Disease: Sexual nondevelopment
Sexual nondevelopment
disease Disease or Syndrome 2 0.010 None 1.000 1 2007 2007
Impaired glucose tolerance in pregnancy
disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0848259
Disease: male puberty
male puberty
phenotype Sign or Symptom 2 0.010 None 1.000 1 2019 2019
CUI: C2874202
Disease: Constitutional delay of puberty
Constitutional delay of puberty
disease Disease or Syndrome 4 3 0.010 None 1.000 1 2010 2010
CUI: C0271528
Disease: Isosexual precocious puberty
Isosexual precocious puberty
phenotype Endocrine System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0221405
Disease: Pituitary cachexia
Pituitary cachexia
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 8 0.200 None 1.000 5 2003 2012
CUI: C0271577
Disease: Isolated gonadotropin deficiency
Isolated gonadotropin deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 8 0.200 None 1.000 5 2003 2012
Isolated deficiency of pituitary hormone
disease Disease or Syndrome 8 0.200 None 1.000 5 2003 2012
Necrosis of pituitary gland (postpartum)
phenotype Pathologic Function 8 0.200 None 1.000 5 2003 2012
CUI: C2874190
Disease: Pituitary short stature
Pituitary short stature
disease Disease or Syndrome 8 0.200 None 1.000 5 2003 2012
Isolated lutropin deficiency (disorder)
disease Endocrine System Diseases Disease or Syndrome 9 6 0.200 None 1.000 5 2003 2012
Idiopathic growth hormone deficiency
disease Disease or Syndrome 10 0.200 None 1.000 5 2003 2012
CUI: C0033831
Disease: Psychological pseudocyesis
Psychological pseudocyesis
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 12 0.010 None 1.000 1 2019 2019
Idiopathic central precocious puberty
disease Endocrine System Diseases Disease or Syndrome 13 5 0.350 None 1.000 6 2 2008 2017
CUI: C0271527
Disease: Cryptogenic sexual precocity
Cryptogenic sexual precocity
phenotype Endocrine System Diseases Disease or Syndrome 13 2 0.310 None 1.000 1 2019 2019
CUI: C0405581
Disease: Testicular dysfunction
Testicular dysfunction
disease Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2020 2020
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis
disease Endocrine System Diseases Disease or Syndrome 14 10 0.300 None 0
CUI: C0242342
Disease: Sheehan Syndrome
Sheehan Syndrome
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 16 2 0.200 None 1.000 5 2003 2012
CUI: C4022675
Disease: Increased female libido
Increased female libido
phenotype Finding 18 0.100 None 0
CUI: C4025901
Disease: Abnormality of body height
Abnormality of body height
disease Finding 18 0.100 None 0
CUI: C4025569
Disease: Eunuchoid habitus
Eunuchoid habitus
phenotype Pathological Conditions, Signs and Symptoms Finding 21 0.100 None 0
Hypothalamic gonadotropin-releasing hormone deficiency
phenotype Finding 22 0.100 None 0