SGPL1, sphingosine-1-phosphate lyase 1, 8879

N. diseases: 85; N. variants: 13
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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2017 2017
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.010 None 1.000 1 2018 2018
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		disease Disease or Syndrome 1 11 0.710 strong 1.000 6 11 2014 2018
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 25 0.340 strong 1.000 4 2017 2019
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 19 0.340 strong 1.000 4 2017 2019
CUI: C0001403
Disease: Addison Disease
Addison Disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 111 13 0.030 None 0.667 3 1 2018 2020
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.130 None 0.667 3 1 2017 2019
CUI: C3887896
Disease: Primary Adrenal Insufficiency
Primary Adrenal Insufficiency 		disease Disease or Syndrome 27 2 0.030 None 0.667 3 2018 2020
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.020 None 1.000 2 2014 2019
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.410 strong 1.000 2 2017 2017
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 239 16 0.410 strong 1.000 2 2009 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.020 None 1.000 2 2015 2017
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.020 None 1.000 2 2011 2018
CUI: C0037899
Disease: Sphingolipidoses
Sphingolipidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 0.020 None 1.000 2 2019 2020
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 42 24 0.020 None 0.500 2 2017 2019
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 9 0.020 None 1.000 2 2017 2018
CUI: C3714636
Disease: Pneumonitis
Pneumonitis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 697 13 0.020 None 1.000 2 2011 2018
CUI: C4284088
Disease: MIRAGE SYNDROME
MIRAGE SYNDROME 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 4 0.020 None 1.000 2 2017 2020
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.400 strong 1.000 1 2017 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2018 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2018 2018
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.400 strong 1.000 1 2017 2017