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Nsf Results
Genes
4 Matches
Conditions
40 Matches
Drugs
2 Matches
MCFD2
/kb/genes/HGNC:18451
Gene
multiple coagulation factor deficiency 2
10/16/2018
FAU
/kb/genes/HGNC:3597
Gene
FAU, ubiquitin like and ribosomal protein S30 fusion
NSF
/kb/genes/HGNC:8016
Gene
N-ethylmaleimide sensitive factor, vesicle fusing ATPase
NSFL1C
/kb/genes/HGNC:15912
Gene
NSFL1 cofactor
ornithine carbamoyltransferase deficiency
MONDO_0010703
Condition
Ornithine carbamoyltransferase deficiency
02/21/2018
guanidinoacetate methyltransferase deficiency
MONDO_0012999
Condition
Cerebral Creatine Deficiency Syndrome type 2
01/25/2019
carnitine palmitoyl transferase 1A deficiency
MONDO_0009705
Condition
hepatic carnitine palmitoyl transferase 1 deficiency
10/25/2018
succinyl-CoA:3-ketoacid CoA transferase deficiency
MONDO_0009492
Condition
OXCT1 deficiency
05/31/2017
carnitine palmitoyltransferase II deficiency
MONDO_0015515
Condition
CPTII
03/27/2018
GABA aminotransferase deficiency
MONDO_0013166
Condition
Gamma-amino butyric acid transaminase deficiency
05/31/2017
teratoma with malignant transformation
MONDO_0006444
Condition
Teratoma with Malignant Transformation
carnitine palmitoyl transferase II deficiency, neonatal form
MONDO_0012136
Condition
Carnitine palmitoyl transferase II deficiency, lethal systemic form
thiopurine S-methyltransferase deficiency
MONDO_0012503
Condition
poor metabolism of thiopurines-1
qualitative or quantitative defects of protein O-mannosyltransferase 2
MONDO_0016185
Condition
Qualitative or quantitative defects of protein O-mannosyltransferase type 2
qualitative or quantitative defects of protein O-mannosyltransferase 1
MONDO_0016184
Condition
Qualitative or quantitative defects of protein O-mannosyltransferase type 1
qualitative or quantitative defects of protein glycosyltransferase-like
MONDO_0016183
Condition
hypoxanthine-guanine phosphoribosyltransferase deficiency
MONDO_0016088
Condition
HPRT deficiency
glycine N-methyltransferase deficiency
MONDO_0011698
Condition
Glycine N-methyltransferase deficiency
carnitine acetyltransferase deficiency
MONDO_0011642
Condition
refractory anemia with excess blasts in transformation
MONDO_0015692
Condition
RAEB-t
brain demyelination due to methionine adenosyltransferase deficiency
MONDO_0009607
Condition
MAT deficiency
renal tubular dysgenesis due to twin-twin transfusion
MONDO_0019984
Condition
carnitine palmitoyl transferase II deficiency, severe infantile form
MONDO_0010914
Condition
CPT2, hepatocardiomuscular form
twin to twin transfusion syndrome
MONDO_0019805
Condition
Twin-to-twin blood transfer (disorder)
Additional Condition Matches
Transforming Growth Factor Beta 2
RXNORM:1370419
Drug
Transforming Growth Factor Beta 1
RXNORM:1426465
Drug
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