FGF8, fibroblast growth factor 8, 2253

N. diseases: 212; N. variants: 23
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: C4025644
Disease: Hypothalamic gonadotropin-releasing hormone deficiency
Hypothalamic gonadotropin-releasing hormone deficiency 		phenotype Finding 22 0.100 None 0
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: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		disease Disease or Syndrome 26 0.010 None 1.000 1 2014 2014
CUI: C4086158
Disease: Childhood Ganglioneuroblastoma
Childhood Ganglioneuroblastoma 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2001 2001
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 28 2 0.010 None 1.000 1 2011 2011
CUI: C0028879
Disease: Odontogenic Cysts
Odontogenic Cysts 		disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 29 0.010 None 1.000 1 2018 2018
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 31 2 0.310 None 1.000 1 2002 2002
CUI: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.010 None 1.000 1 2014 2014
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 2011 2012
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.100 None 0
CUI: C1739363
Disease: Prostatic Hypertrophy
Prostatic Hypertrophy 		disease Male Urogenital Diseases Disease or Syndrome 37 0.010 None 1.000 1 1999 1999
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 37 2 0.300 None 0
CUI: C1384606
Disease: Dyspareunia
Dyspareunia 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders Finding 37 0.100 None 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 38 0.100 None 0
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 39 2 0.100 None 0
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder 		disease Nervous System Diseases Disease or Syndrome 39 9 0.100 None 0
CUI: C0003126
Disease: Anosmia
Anosmia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 40 4 0.100 None 0
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 41 15 0.030 None 1.000 3 2013 2017
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 41 1 0.010 None 1.000 1 2013 2013
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		disease Endocrine System Diseases Disease or Syndrome 42 8 0.010 None 1.000 1 2010 2010
CUI: C0266399
Disease: Infantile uterus
Infantile uterus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 43 0.100 None 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 44 0.100 None 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype Finding 44 6 0.100 None 0