FIG4, FIG4 phosphoinositide 5-phosphatase, 9896

N. diseases: 223; N. variants: 32
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.
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 11 1.000 None 1.000 20 11 2007 2019
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 3 5 0.980 None 1.000 9 5 2007 2019
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 6 0.700 strong 1.000 3 6 2007 2017
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.600 None 1.000 14 2007 2020
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
disease Disease or Syndrome 1 2 0.600 None 1.000 1 2 2014 2014
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 5 0.500 None 1.000 2 2007 2012
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.420 None 1.000 3 2009 2017
CUI: C0241391
Disease: Thumb absent
Thumb absent
phenotype Finding 21 0.400 strong 1.000 1 2013 2013
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia
disease Musculoskeletal Diseases Congenital Abnormality 22 0.400 strong 1.000 1 2013 2013
CUI: C3179508
Disease: Aplasia/Hypoplasia of the thumb
Aplasia/Hypoplasia of the thumb
phenotype Musculoskeletal Diseases Finding 22 1 0.300 strong 1.000 1 2013 2013
Hereditary Motor and Sensory Neuropathy Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 84 0.300 None 1.000 1 2007 2007
Hereditary Motor and Sensory-Neuropathy Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 144 0.300 None 1.000 1 2007 2007
Charcot-Marie-Tooth Disease, Type Ib
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 12 51 0.300 None 1.000 1 2007 2007
Charcot-Marie-Tooth Disease, Type Ia (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 24 0.300 None 1.000 1 2007 2007
CUI: C2675191
Disease: Polymicrogyria, Bilateral Occipital
Polymicrogyria, Bilateral Occipital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
Hereditary Motor and Sensory Neuropathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.210 None 1.000 2 2007 2012
Peroneal muscular atrophy (axonal type) (hypertrophic type)
disease Disease or Syndrome 21 0.200 None 1.000 2 2007 2012
Hereditary motor and sensory neuropathy, types I-IV
disease Disease or Syndrome 21 0.200 None 1.000 2 2007 2012
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease Disease or Syndrome 21 0.200 None 1.000 2 2007 2012
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 176 45 0.200 None 1.000 2 2007 2012
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.120 None 1.000 2 2014 2016
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 77 0.100 None 1.000 9 8 2007 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 7 2 1993 2015
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement
phenotype Laboratory Procedure 26 36 0.100 None 1.000 1 1 2017 2017
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019