GALNS, galactosamine (N-acetyl)-6-sulfatase, 2588

N. diseases: 138; N. variants: 95
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: C4023059
Disease: Chondroitin sulfate excretion in urine
Chondroitin sulfate excretion in urine 		phenotype Finding 1 0.100 None 0
CUI: C4280737
Disease: Large elbow
Large elbow 		phenotype Finding 1 0.100 None 0
CUI: C1854783
Disease: Grayish enamel
Grayish enamel 		phenotype Finding 2 0.100 None 0
CUI: C1854785
Disease: Constricted iliac wings
Constricted iliac wings 		phenotype Finding 2 0.100 None 0
CUI: C1854786
Disease: Epiphyseal deformities of tubular bones
Epiphyseal deformities of tubular bones 		phenotype Finding 2 0.100 None 0
CUI: C1854787
Disease: Pointed proximal second through fifth metacarpals
Pointed proximal second through fifth metacarpals 		phenotype Finding 2 0.100 None 0
CUI: C3179194
Disease: GALNS Deficiency
GALNS Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.330 None 1.000 3 1999 2019
CUI: C0458385
Disease: Site-specific infective disorders of skin
Site-specific infective disorders of skin 		group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C1283601
Disease: Deficiency of sulfatase
Deficiency of sulfatase 		disease Disease or Syndrome 3 0.010 None 1.000 1 1988 1988
CUI: C1846798
Disease: Cervical subluxation
Cervical subluxation 		phenotype Finding 3 0.100 None 0
CUI: C4023060
Disease: Keratan sulfate excretion in urine
Keratan sulfate excretion in urine 		phenotype Laboratory or Test Result 3 0.100 None 0
CUI: C0036285
Disease: Scarlet Fever
Scarlet Fever 		disease Infections Disease or Syndrome 4 0.030 None 0.667 3 2012 2017
CUI: C0473315
Disease: Lactational amenorrhea
Lactational amenorrhea 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C3715147
Disease: Necrotising myositis
Necrotising myositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 72 0.300 None 0
CUI: C1854780
Disease: Flaring of rib cage
Flaring of rib cage 		phenotype Finding 4 1 0.100 None 0
CUI: C0036689
Disease: Streptococcal sore throat
Streptococcal sore throat 		disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2008 2008
CUI: C2718068
Disease: beta-Galactosidase Deficiency
beta-Galactosidase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 1988 1988
CUI: C2732890
Disease: Necrotizing soft tissue infection
Necrotizing soft tissue infection 		disease Infections Disease or Syndrome 6 0.010 None 1.000 1 2013 2013
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 0.010 None 1.000 1 1999 1999
CUI: C0042998
Disease: Vulvovaginitis
Vulvovaginitis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 7 0.020 None 1.000 2 2019 2019
CUI: C0034212
Disease: Pyoderma
Pyoderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C1846433
Disease: Prominent sternum
Prominent sternum 		phenotype Finding 8 0.100 None 0
CUI: C0021099
Disease: Impetigo
Impetigo 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 9 0.020 None 1.000 2 2013 2014
CUI: C0001344
Disease: Acute pharyngitis
Acute pharyngitis 		disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018