VAC14, VAC14 component of PIKFYVE complex, 55697

N. diseases: 140; N. variants: 12
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: C4310743
Disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET
STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET 		disease Disease or Syndrome 2 4 0.700 None 1.000 2 4 2008 2016
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 0.320 None 1.000 2 2017 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.110 None 1.000 1 1 2016 2016
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 2 2 2018 2018
CUI: C0347071
Disease: Malignant neoplasm of other and unspecified sites
Malignant neoplasm of other and unspecified sites 		group Neoplasms Neoplastic Process 2 2 0.100 None 1.000 1 1 2016 2016
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
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
CUI: C0936223
Disease: Metastatic Prostate Carcinoma
Metastatic Prostate Carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 362 24 0.100 None 1.000 1 1 2016 2016
CUI: C1258104
Disease: Diffuse Scleroderma
Diffuse Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 56 5 0.100 None 1.000 1 1 2018 2018
CUI: C1314691
Disease: Age at menarche
Age at menarche 		phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 1 1 2019 2019
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype Finding 33 3 0.100 None 0
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease Musculoskeletal Diseases Congenital Abnormality 22 0.100 None 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		phenotype Finding 35 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: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		phenotype Anatomical Abnormality 9 0.100 None 0
CUI: C0410935
Disease: Wide cranial sutures
Wide cranial sutures 		phenotype Finding 10 1 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 78 14 0.100 None 0
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype Finding 60 27 0.100 None 0