ANOS1, anosmin 1, 3730

N. diseases: 166; N. variants: 31
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: C4025668
Disease: Leydig cell insensitivity to gonadotropin
Leydig cell insensitivity to gonadotropin 		phenotype Finding 1 0.100 None 0
CUI: C0235964
Disease: Renal dysgenesis
Renal dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 3 0.010 None 1.000 1 2007 2007
CUI: C1720275
Disease: Gonadotropin releasing factor deficiency
Gonadotropin releasing factor deficiency 		disease Nervous System Diseases Disease or Syndrome 5 0.020 None 1.000 2 1997 2004
CUI: C4072889
Disease: Decreased circulating follicle stimulating hormone level
Decreased circulating follicle stimulating hormone level 		phenotype Finding 5 0.100 None 0
CUI: C2930927
Disease: Kallmann syndrome, type 3, recessive
Kallmann syndrome, type 3, recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 0.300 None 0
CUI: C4072890
Disease: Decreased circulating luteinizing hormone level
Decreased circulating luteinizing hormone level 		phenotype Finding 6 0.100 None 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis 		phenotype Finding 7 0.100 None 0
CUI: C0238210
Disease: Malrotation of kidney
Malrotation of kidney 		disease Congenital Abnormality 8 1 0.010 None 1.000 1 1999 1999
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 8 45 0.400 None 1.000 1 1 2013 2013
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 12 30 0.720 None 1.000 23 22 1993 2019
CUI: C0234362
Disease: Synkinesis
Synkinesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.030 None 1.000 3 2000 2013
CUI: C2720163
Disease: Placental Steroid Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.020 None 1.000 2 2015 2017
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 17 108 0.010 None 1.000 1 1997 1997
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
CUI: C4025644
Disease: Hypothalamic gonadotropin-releasing hormone deficiency
Hypothalamic gonadotropin-releasing hormone deficiency 		phenotype Finding 22 0.100 None 0
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 23 10 0.010 None 1.000 1 2 2017 2017
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development 		phenotype Finding 24 0.100 None 0
CUI: C4022003
Disease: Erectile abnormalities
Erectile abnormalities 		disease Finding 24 0.100 None 0
CUI: C0271578
Disease: Female hypogonadism syndrome
Female hypogonadism syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 25 0.100 None 0
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 29 6 0.040 None 1.000 4 1993 2007
CUI: C0156312
Disease: Atrophy of testis
Atrophy of testis 		disease Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 0.100 None 0
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 33 3 0.040 None 1.000 4 1993 2007
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 19 0.020 None 1.000 2 2 2012 2015