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.
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: C4013648
Disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL 		disease Disease or Syndrome 1 2 0.600 None 1.000 1 2 2014 2014
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
CUI: C0333457
Disease: Segmental demyelination
Segmental demyelination 		disease Nervous System Diseases Disease or Syndrome 2 2 0.020 None 1.000 2 2013 2018
CUI: C3553831
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		disease Disease or Syndrome 2 7 0.010 None 1.000 1 2016 2016
CUI: C1836213
Disease: Aplasia/Hypoplasia of the hallux
Aplasia/Hypoplasia of the hallux 		phenotype Finding 2 0.100 None 0
CUI: C4022717
Disease: Narrow nasal base
Narrow nasal base 		phenotype Finding 2 0.100 None 0
CUI: C4023557
Disease: Abnormality of dental structure
Abnormality of dental structure 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4024048
Disease: Aplasia of the distal phalanx of the hallux
Aplasia of the distal phalanx of the hallux 		phenotype Finding 2 0.100 None 0
CUI: C4024076
Disease: Aplasia/hypoplasia of the 1st metatarsal
Aplasia/hypoplasia of the 1st metatarsal 		phenotype Finding 2 0.100 None 0
CUI: C4024173
Disease: Aplasia of the distal phalanges of the hand
Aplasia of the distal phalanges of the hand 		phenotype Finding 2 0.100 None 0
CUI: C4024991
Disease: Aplasia/Hypoplasia of the scapulae
Aplasia/Hypoplasia of the scapulae 		phenotype Finding 2 0.100 None 0
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
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: C1862159
Disease: Short proximal phalanx of hallux
Short proximal phalanx of hallux 		phenotype Finding 3 0.100 None 0
CUI: C2675547
Disease: Slender long bones with narrow diaphyses
Slender long bones with narrow diaphyses 		phenotype Finding 3 0.100 None 0
CUI: C4022432
Disease: Bilateral external ear deformity
Bilateral external ear deformity 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4025132
Disease: Shortening of all distal phalanges of the toes
Shortening of all distal phalanges of the toes 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4025828
Disease: Abnormality of the scapula
Abnormality of the scapula 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C1839276
Disease: Broad secondary alveolar ridge
Broad secondary alveolar ridge 		phenotype Finding 4 0.100 None 0
CUI: C4021167
Disease: Tapered toe
Tapered toe 		disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone 		phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C3711370
Disease: Spastic Paraplegia Type 7
Spastic Paraplegia Type 7 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2019 2019
CUI: C1838610
Disease: Aplasia of the 1st metacarpal
Aplasia of the 1st metacarpal 		phenotype Finding 5 0.100 None 0