Clinical and research tests for butenolide phosphate - Genetic Testing Registry (GTR)

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Select all conditions on this page	Gene symbol	Associated conditionsHelp Conditions and phenotypes associated with each gene as reported by OMIM, GeneReviews and Gene
Select item 8540	AGPS	Rhizomelic chondrodysplasia punctata type 3
Select item 229	ALDOB	Hereditary fructosuria
Select item 790	CAD	Developmental and epileptic encephalopathy, 50
Select item 8573	CASK	Anemia, nonspherocytic hemolytic, due to G6PD deficiency FG syndrome 4 Syndromic X-linked intellectual disability Najm type
Select item 1373	CPS1	Congenital hyperammonemia, type I Pulmonary hypertension, neonatal, susceptibility to
Select item 1565	CYP2D6	Amitriptyline response Clozapine response Codeine response Desipramine response Deutetrabenazine response Disorder due cytochrome p450 CYP2D6 variant Doxepin response Eliglustat response Fluvoxamine response Imipramine response Nortriptyline response Ondansetron response Paroxetine response Primaquine response Selective serotonin reuptake inhibitor response Tamoxifen response Thioridazine response Tramadol response Trimipramine response Tropisetron response
Select item 120227	CYP2R1	Vitamin D hydroxylation-deficient rickets, type 1B
Select item 1758	DMP1	Hypophosphatemic rickets, autosomal recessive, 1
Select item 22845	DOLK	DK1-congenital disorder of glycosylation
Select item 1798	DPAGT1	Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation
Select item 8813	DPM1	Congenital disorder of glycosylation type 1E
Select item 54344	DPM3	DPM3-congenital disorder of glycosylation Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
Select item 1806	DPYD	Capecitabine response Dihydropyrimidine dehydrogenase deficiency Fluoropyrimidine response Tegafur response
Select item 5167	ENPP1	Arterial calcification, generalized, of infancy, 1 Hypophosphatemic rickets, autosomal recessive, 2 Hypopigmentation-punctate palmoplantar keratoderma syndrome Inherited obesity Type 2 diabetes mellitus
Select item 2203	FBP1	Fructose-biphosphatase deficiency
Select item 8074	FGF23	Autosomal dominant hypophosphatemic rickets Tumoral calcinosis, hyperphosphatemic, familial, 2
Select item 2539	G6PD	Anemia, nonspherocytic hemolytic, due to G6PD deficiency Chlorpropamide response Glibenclamide response Glimepiride response Glipizide response Malaria, susceptibility to Pegloticase response Primaquine response Rasburicase response Tafenoquine response Tolbutamide response
Select item 2592	GALT	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Select item 2778	GNAS	ACTH-independent macronodular adrenal hyperplasia 1 Fibrous dysplasia/McCune-Albright syndrome McCune-Albright syndrome Pituitary adenoma 3, multiple types Progressive osseous heteroplasia Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type I A Pseudopseudohypoparathyroidism
Select item 2821	GPI	Hemolytic anemia due to glucophosphate isomerase deficiency

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