Phenotype: Abnormal urine carbohydrate level (HP:0031979)
Associated genes and diseases:
gene_symbol: SLC35C1
disease_id: OMIM:266265
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
gene_symbol: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: MAN2B1
disease_id: ORPHA:309288
disease_name: Alpha-mannosidosis, adult form
Lysosomal alpha-D-mannosidase deficiency, adult form
gene_symbol: GAA
disease_id: ORPHA:308552
disease_name: Glycogen storage disease due to acid maltase deficiency, infantile onset
Alpha-1,4-glucosidase acid deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
GSD type 2, infantile onset
GSD type II, infantile onset
Glycogen storage disease type 2, infantile onset
Glycogen storage disease type II, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis type 2, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset
gene_symbol: SNX14
disease_id: OMIM:616354
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
gene_symbol: SNX14
disease_id: ORPHA:397709
disease_name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Autosomal recessive spinocerebellar ataxia type 20
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
SCAR20
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: GNPTAB
disease_id: ORPHA:423461
disease_name: Mucolipidosis type III alpha/beta
ML 3 alpha/beta
ML III alpha/beta
Mucolipidosis type 3 alpha/beta
gene_symbol: GALK1
disease_id: OMIM:230200
disease_name: GALACTOSEMIA II
gene_symbol: GALT
disease_id: OMIM:230400
disease_name: GALACTOSEMIA I
gene_symbol: SKIC3
disease_id: OMIM:222470
disease_name: TRICHOHEPATOENTERIC SYNDROME 1
gene_symbol: FOXP2
disease_id: ORPHA:251061
disease_name: 7q31 microdeletion syndrome
Del(7)(q31)
Monosomy 7q31
gene_symbol: GALE
disease_id: OMIM:230350
disease_name: GALACTOSEMIA III
gene_symbol: NEU1
disease_id: ORPHA:812
disease_name: Sialidosis type 1
Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Normomorphic sialidosis
gene_symbol: NEU1
disease_id: OMIM:256550
disease_name: NEURAMINIDASE DEFICIENCY
gene_symbol: MANBA
disease_id: OMIM:248510
disease_name: MANNOSIDOSIS, BETA A, LYSOSOMAL
gene_symbol: SHPK
disease_id: OMIM:617213
disease_name: SEDOHEPTULOKINASE DEFICIENCY
gene_symbol: DCXR
disease_id: ORPHA:2843
disease_name: Pentosuria
Essential pentosuria
Xylitol dehydrogenase deficiency
gene_symbol: KHK
disease_id: ORPHA:2056
disease_name: Essential fructosuria
Fructokinase deficiency
Ketohexokinase deficiency
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: FBP1
disease_id: OMIM:229700
disease_name: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
gene_symbol: FBP1
disease_id: ORPHA:348
disease_name: Fructose-1,6-bisphosphatase deficiency
FBPase deficiency
Fructose-1,6-diphosphatase deficiency
gene_symbol: GK
disease_id: OMIM:307030
disease_name: GLYCEROL KINASE DEFICIENCY
gene_symbol: RPIA
disease_id: OMIM:608611
disease_name: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: IL1B
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: ERBB2
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: IL1RN
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: APC
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: CASP10
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: IRF1
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: FGFR2
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: KRAS
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: KRAS
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: PIK3CA
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: KLF6
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: MUTYH
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: KRT18
disease_id: OMIM:215600
disease_name: CIRRHOSIS, FAMILIAL
gene_symbol: ACVR1B
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: SMAD4
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: STK11
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: TP53
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: TKT
disease_id: ORPHA:488618
disease_name: Transketolase deficiency
Short stature-developmental delay-congenital heart defect syndrome
TKT deficiency
gene_symbol: GLB1
disease_id: ORPHA:79255
disease_name: GM1 gangliosidosis type 1
Infantile GM1 gangliosidosis
Norman-Landing disease
gene_symbol: HEXB
disease_id: OMIM:268800
disease_name: SANDHOFF DISEASE
gene_symbol: PEX12
disease_id: OMIM:266510
disease_name: PEROXISOME BIOGENESIS DISORDER 3B