FGF3, fibroblast growth factor 3, 2248

N. diseases: 200; 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.
CUI: C1833693
Disease: Otodental Dysplasia
Otodental Dysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.320 None 1.000 2 2007 2017
CUI: C1834013
Disease: Odontoma dysphagia syndrome
Odontoma dysphagia syndrome 		disease Digestive System Diseases; Neoplasms; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C4025862
Disease: Abnormality of the maxilla
Abnormality of the maxilla 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0266604
Disease: Congenital aplasia of inner ear
Congenital aplasia of inner ear 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 2 0.120 None 1.000 2 2008 2011
CUI: C0038368
Disease: Stomatognathic Diseases
Stomatognathic Diseases 		group Stomatognathic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2007 2007
CUI: C2750325
Disease: Oculootodental syndrome
Oculootodental syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2007 2007
CUI: C4023566
Disease: Agenesis of premolar
Agenesis of premolar 		phenotype Finding 2 0.100 None 0
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 14 0.730 definitive 1.000 10 14 1987 2018
CUI: C0268199
Disease: Familial apolipoprotein C-II deficiency
Familial apolipoprotein C-II deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.010 None 1.000 1 1997 1997
CUI: C0279658
Disease: Gallbladder squamous cell carcinoma
Gallbladder squamous cell carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3 0.010 None 1.000 1 1989 1989
CUI: C0028882
Disease: Odontoma
Odontoma 		disease Neoplasms Neoplastic Process 3 0.100 None 0
CUI: C1527284
Disease: Dental Pulp Stone
Dental Pulp Stone 		disease Stomatognathic Diseases Disease or Syndrome 3 0.100 None 0
CUI: C4021175
Disease: Microtia, first degree
Microtia, first degree 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C4023546
Disease: Abnormality of canine
Abnormality of canine 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4021775
Disease: High-frequency sensorineural hearing impairment
High-frequency sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0344516
Disease: Coloboma of lens
Coloboma of lens 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 5 0.100 None 0
CUI: C0020627
Disease: Hypopharyngeal Neoplasms
Hypopharyngeal Neoplasms 		group Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 7 0.010 None 1.000 1 1990 1990
CUI: C0548923
Disease: Burn infection
Burn infection 		disease Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C2007076
Disease: Liver Carcinosarcoma
Liver Carcinosarcoma 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C1857055
Disease: Anteverted ears
Anteverted ears 		phenotype Finding 7 0.100 None 0
CUI: C0334050
Disease: Adenosis
Adenosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 0.010 None 1.000 1 2001 2001
CUI: C0585955
Disease: Dysplasia of larynx
Dysplasia of larynx 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C4023338
Disease: Profound sensorineural hearing impairment
Profound sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 2 0.100 None 0
CUI: C1266089
Disease: Metaplastic carcinoma
Metaplastic carcinoma 		disease Neoplasms Neoplastic Process 14 0.010 None 1.000 1 1997 1997
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 0.300 None 1.000 1 2007 2007