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: 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: 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: 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: 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: 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
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: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 92 14 0.310 strong 1.000 1 2018 2018
CUI: C0521654
Disease: Neurologic Deficits
Neurologic Deficits 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 4 0.300 strong 1.000 1 2017 2017
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: C0020619
Disease: Hypogonadism
Hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 305 24 0.110 None 1.000 1 2017 2017
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 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: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 22 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 107 9 0.100 None 0
CUI: C0033377
Disease: Ptosis
Ptosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.100 None 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.100 None 0