SLC33A1, solute carrier family 33 member 1, 9197

N. diseases: 170; N. variants: 7
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: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 1 0.710 None 1.000 3 1 2008 2018
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		disease Disease or Syndrome 1 2 0.700 None 1.000 3 2 2012 2018
CUI: C0241224
Disease: Spinal cord lesion
Spinal cord lesion 		phenotype Nervous System Diseases Finding 7 0.100 None 0
CUI: C4049615
Disease: Megaureter
Megaureter 		disease Congenital Abnormality 8 0.010 None 1.000 1 1999 1999
CUI: C1846017
Disease: Progressive pes cavus
Progressive pes cavus 		phenotype Finding 9 0.100 None 0
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		phenotype Finding 12 5 0.100 None 0
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 10 0.010 None 1.000 1 2008 2008
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 17 32 0.010 None 1.000 1 2018 2018
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		phenotype Finding 19 4 0.100 None 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype Finding 21 5 0.100 None 0
CUI: C1846566
Disease: Degeneration of the lateral corticospinal tracts
Degeneration of the lateral corticospinal tracts 		phenotype Finding 21 0.100 None 0
CUI: C0155616
Disease: Secondary hypertension
Secondary hypertension 		disease Cardiovascular Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 1994 1994
CUI: C0020540
Disease: Malignant Hypertension
Malignant Hypertension 		disease Cardiovascular Diseases Disease or Syndrome 23 2 0.010 None 1.000 1 2011 2011
CUI: C1510497
Disease: Lens Opacities
Lens Opacities 		phenotype Eye Diseases Finding 24 0.300 None 1.000 1 2012 2012
CUI: C0238506
Disease: Congenital posterior urethral valves
Congenital posterior urethral valves 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 26 1 0.010 None 1.000 1 1999 1999
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		disease Eye Diseases Disease or Syndrome 28 0.300 None 1.000 1 2012 2012
CUI: C2939447
Disease: Right ventricular failure
Right ventricular failure 		disease Cardiovascular Diseases Disease or Syndrome 28 0.010 None 1.000 1 2018 2018
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2012 2012
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		disease Mental Disorders Mental or Behavioral Dysfunction 30 0.300 None 1.000 1 2012 2012
CUI: C0152105
Disease: Hypertensive heart disease
Hypertensive heart disease 		disease Cardiovascular Diseases Disease or Syndrome 32 0.010 None 1.000 1 2003 2003
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		phenotype Finding 32 6 0.100 None 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 6 0.100 None 0
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		phenotype Finding 39 4 0.100 None 0
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 47 10 0.020 None 1.000 2 1999 2002
CUI: C1392786
Disease: Cognitive changes
Cognitive changes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 50 15 0.010 None 1.000 1 2019 2019