SMPD1, sphingomyelin phosphodiesterase 1, 6609

N. diseases: 247; N. variants: 130
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2011 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 1 2018 2019
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 247 76 0.020 None 1.000 2 2019 2019
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		disease Disease or Syndrome 23 2 0.010 None 1.000 1 2011 2011
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2019 2019
CUI: C0849640
Disease: skin damage
skin damage 		phenotype Sign or Symptom 64 0.010 None 1.000 1 2017 2017
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2019 2019
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.010 None 1.000 1 2018 2018
CUI: C2721740
Disease: Ventilation perfusion mismatch
Ventilation perfusion mismatch 		disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome 		disease Disease or Syndrome 54 2 0.010 None 1.000 1 2019 2019
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2019 2019
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.010 None 1.000 1 2020 2020
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.010 None 1.000 1 2018 2018
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0476337
Disease: Blood gases abnormal
Blood gases abnormal 		phenotype Finding 1 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 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: C1843428
Disease: Diffuse reticular or finely nodular infiltrations
Diffuse reticular or finely nodular infiltrations 		phenotype Finding 1 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		phenotype Finding 25 2 0.100 None 0
CUI: C1856560
Disease: Bone-marrow foam cells
Bone-marrow foam cells 		phenotype Finding 5 2 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		phenotype Finding 9 15 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C4025590
Disease: Foam cells with lamellar inclusion bodies
Foam cells with lamellar inclusion bodies 		phenotype Finding 2 0.100 None 0