eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| classic galactosemia | ||||
| Disease ID | 1086 |
|---|---|
| Disease | classic galactosemia |
| Definition | An inherited metabolic disorder characterized by increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental delays, liver damage and jaundice, cataract, and ovarian failure. |
| Synonym | classic galactosemias classical galactosaemia classical galactosemia classical galactosemia (disorder) defic dis galactose 1 phosphate uridyl transferase deficiencies, galactose-1-phosphate uridyltransferase deficiencies, galactose-1-phosphate uridylyltransferase deficiencies, galt deficiency disease, galactose 1 phosphate uridyl transferase deficiency disease, galactose-1-phosphate uridyl-transferase deficiency galactosemia, epimerase deficiency galactosemias, epimerase deficiency of galactose-1-phosphate uridyl transferase deficiency of galactose-1-phosphate uridylyltransferase deficiency of hexose-1-phosphate uridylyltransferase deficiency of udpglucose-hexose-1-phosphate uridylyltransferase deficiency of udpglucose-hexose-1-phosphate uridylyltransferase (disorder) deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder) deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) deficiency of uridyl transferase deficiency of utp-hexose-1-phosphate uridylyltransferase deficiency of utp-hexose-1-phosphate uridylyltransferase (disorder) deficiency, galactose-1-phosphate uridyltransferase deficiency, galactose-1-phosphate uridylyltransferase deficiency, galt epimerase deficiency galactosemia epimerase deficiency galactosemias galactose 1 phosphate uridyl transferase defic dis galactose 1 phosphate uridyl transferase deficiency disease galactose 1 phosphate uridyltransferase deficiency galactose 1 phosphate uridylyl transferase deficiency galactose 1 phosphate uridylyltransferase deficiency galactose phosphate uridyl transferase defic dis 01 galactose-1-phosphate uridyl transferase deficiency galactose-1-phosphate uridyl-transferase deficiency disease galactose-1-phosphate uridyltransferase deficiencies galactose-1-phosphate uridyltransferase deficiency galactose-1-phosphate uridylyltransferase deficiencies galactose-1-phosphate uridylyltransferase deficiency galactosemia, classic galactosemia, epimerase deficiency galactosemias, classic galactosemias, epimerase deficiency galt galt deficiencies galt deficiency transferase deficiency galactosaemia transferase deficiency galactosemia udpglucose hexose 1 phosphate uridylyltransferase deficiency udpglucose hexose-1-phosphate uridylyltransferase deficiency uridyl transferase deficiency uridyltransferase deficiencies, galactose-1-phosphate uridyltransferase deficiency, galactose-1-phosphate uridylyltransferase deficiencies, galactose-1-phosphate uridylyltransferase deficiency, galactose-1-phosphate utp hexose 1 phosphate uridylyltransferase deficiency utp hexose 1 phosphate uridylyltransferase deficiency disease utp hexose-1-phosphate uridylyltransferase deficiency utp-hexose-1-phosphate uridyltransferase deficiency utp-hexose-1-phosphate uridylyltransferase deficiency utp-hexose-1-phosphate uridylyltransferase deficiency disease utphexose 1 phosphate uridylyltransferase defic |
| Orphanet | |
| OMIM | |
| UMLS | C0268151 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0016952 | galactosemia | 5 C0268151 | classic galactosemia | 2 C0030920 | peptic ulcers | 2 C0030920 | peptic ulcer | 2 C0013421 | dystonia | 1 C0016719 | friedreich ataxia | 1 C0037822 | speech disorders | 1 C0013720 | ehlers-danlos syndrome | 1 C0030920 | peptic ulcer disease | 1 C0086543 | cataracts | 1 C0017152 | gastritis | 1 C0004134 | ataxia | 1 C0003864 | arthritis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) GALT | 9p13.3 |
| Disease ID | 1086 |
|---|---|
| Disease | classic galactosemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0000518 | Cataract HP:0001824 | Weight loss HP:0100806 | Sepsis HP:0001260 | Dysarthria HP:0001251 | Ataxia HP:0009088 | Speech articulation difficulties HP:0001254 | Lethargy HP:0001943 | Hypoglycemia HP:0002017 | Nausea and vomiting HP:0000952 | Jaundice HP:0011968 | Feeding difficulties HP:0001288 | Gait disturbance HP:0001399 | Hepatic failure HP:0100022 | Abnormality of movement HP:0000868 | Decreased fertility in females HP:0000939 | Osteoporosis HP:0004915 | Impairment of galactose metabolism HP:0001508 | Failure to thrive HP:0001249 | Intellectual disability HP:0001892 | Abnormal bleeding HP:0000137 | Abnormality of the ovary HP:0011098 | Speech apraxia HP:0001337 | Tremor HP:0003811 | Neonatal death |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0004398 | Peptic ulcer | 2 HP:0000518 | Cataract | 1 HP:0001251 | Ataxia | 1 HP:0001337 | Tremor | 1 HP:0001369 | Arthritis | 1 HP:0001332 | Dystonia | 1 HP:0004349 | Reduced bone mineral density | 1 HP:0005263 | Gastritis | 1 HP:0002167 | Speech disorder | 1 HP:0002719 | infections, recurrent | 1 |
| Disease ID | 1086 |
|---|---|
| Disease | classic galactosemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0003635 | dyspraxia |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:242) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs111033634 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34646745 | C | TT |
| rs111033635 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34646771 | A | G |
| rs111033636 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34646786 | G | A,C,T |
| rs111033637 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34646731 | G | C |
| rs111033638 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34646722 | C | - |
| rs111033639 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34646705 | A | G |
| rs111033640 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34646586 | GTCA | - |
| rs111033643 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647097 | C | A |
| rs111033644 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647101 | T | A |
| rs111033645 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647113 | C | T |
| rs111033646 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647119 | A | C |
| rs111033647 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647136 | G | A,T |
| rs111033648 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647158 | G | A,T |
| rs111033649 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647166 | C | T |
| rs111033651 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647140 | CAGCT | - |
| rs111033652 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647140 | C | T |
| rs111033654 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647169 | G | T |
| rs111033655 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647213 | CCCTCTCA | - |
| rs111033656 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647203 | C | A,T |
| rs111033658 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647205 | C | T |
| rs111033659 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647226 | - | G |
| rs111033660 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647253 | G | A |
| rs111033661 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647490 | A | G |
| rs111033662 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647226 | CT | - |
| rs111033663 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647227 | T | C,G |
| rs111033664 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647244 | C | T |
| rs111033665 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647247 | G | A,C |
| rs111033666 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647504 | T | C,G |
| rs111033667 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647655 | A | C |
| rs111033668 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647524 | T | C,G |
| rs111033669 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647529 | A | G |
| rs111033670 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647531 | G | A,C |
| rs111033673 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647682 | A | C |
| rs111033674 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647695 | C | G,T |
| rs111033675 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647696 | G | A |
| rs111033676 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647661 | - | A |
| rs111033677 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647665 | G | A |
| rs111033678 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647669 | A | C,T |
| rs111033679 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647678 | T | C |
| rs111033680 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647702 | T | C |
| rs111033681 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647706 | G | A,T |
| rs111033682 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647833 | A | G |
| rs111033683 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647840 | T | C |
| rs111033684 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647846 | T | G |
| rs111033686 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647867 | C | T |
| rs111033686 | 17876724 | 2592 | GALT | umls:C0268151 | BeFree | Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L). | 0.375200745 | 2007 | GALT | 9 | 34647867 | C | T |
| rs111033687 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647870 | T | C |
| rs111033688 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647848 | C | T |
| rs111033689 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647854 | T | - |
| rs111033690 | 17876724 | 2592 | GALT | umls:C0268151 | BeFree | Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L). | 0.375200745 | 2007 | GALT | 9 | 34647858 | C | G,T |
| rs111033690 | 25614870 | 2592 | GALT | umls:C0268151 | UNIPROT | Whereas classic galactosemia has been hypothesized to result from GALT misfolding, a thorough functional-structural characterization of GALT most prevalent variants was still lacking, hampering the development of alternative therapeutic approaches. | 0.375200745 | 2014 | GALT | 9 | 34647858 | C | G,T |
| rs111033690 | 11592823 | 2592 | GALT | umls:C0268151 | BeFree | This mutation was common in black patients with galactosemia and homozygotes (S135L/S135L) had no GALT activity or protein in their erythrocytes or lymphoblasts. | 0.375200745 | 2001 | GALT | 9 | 34647858 | C | G,T |
| rs111033690 | 8551426 | 2592 | GALT | umls:C0268151 | BeFree | The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. | 0.375200745 | 1996 | GALT | 9 | 34647858 | C | G,T |
| rs111033690 | 15841485 | 2592 | GALT | umls:C0268151 | UNIPROT | Classical galactosemia is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase (GALT) deficiency. | 0.375200745 | 2005 | GALT | 9 | 34647858 | C | G,T |
| rs111033690 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647858 | C | G,T |
| rs111033692 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647878 | A | G |
| rs111033693 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647896 | C | G,T |
| rs111033694 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647897 | G | A |
| rs111033695 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647879 | T | A,C |
| rs111033697 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647882 | C | T |
| rs111033699 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647902 | G | C |
| rs111033700 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647936 | T | C |
| rs111033701 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647906 | T | C |
| rs111033702 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647914 | T | C,G |
| rs111033704 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647916 | G | A |
| rs111033705 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647944 | C | T |
| rs111033708 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647953 | T | C |
| rs111033709 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647959 | C | A |
| rs111033710 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647963 | T | C |
| rs111033714 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648110 | G | C |
| rs111033715 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648119 | T | C |
| rs111033716 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648157 | C | G |
| rs111033717 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648159 | C | A |
| rs111033718 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648131 | G | A |
| rs111033719 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648135 | - | G |
| rs111033720 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648143 | G | A |
| rs111033721 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648154 | C | A |
| rs111033722 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648161 | C | A,T |
| rs111033723 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648172 | G | A |
| rs111033725 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648163 | C | T |
| rs111033726 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648349 | T | C |
| rs111033728 | 17876724 | 2592 | GALT | umls:C0268151 | BeFree | Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L). | 0.375200745 | 2007 | GALT | 9 | 34648353 | T | C |
| rs111033728 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648353 | T | C |
| rs111033729 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648363 | T | G |
| rs111033730 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648364 | G | A |
| rs111033731 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648332 | A | G |
| rs111033734 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648344 | G | A |
| rs111033735 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648371 | G | A |
| rs111033736 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648376 | G | A |
| rs111033737 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648379 | C | T |
| rs111033738 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648367 | C | - |
| rs111033739 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648370 | C | T |
| rs111033740 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648380 | G | A,C,T |
| rs111033741 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648419 | T | C |
| rs111033742 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648421 | C | - |
| rs111033743 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648388 | C | T |
| rs111033744 | 17876724 | 2592 | GALT | umls:C0268151 | BeFree | Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L). | 0.375200745 | 2007 | GALT | 9 | 34648395 | A | C,G |
| rs111033744 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648395 | A | C,G |
| rs111033746 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648403 | C | T |
| rs111033747 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648427 | G | A |
| rs111033748 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648458 | T | C |
| rs111033749 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648765 | C | T |
| rs111033750 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648436 | C | A,T |
| rs111033751 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648445 | C | G |
| rs111033752 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648446 | T | C |
| rs111033753 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648456 | G | T |
| rs111033754 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648766 | G | A |
| rs111033755 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648826 | A | C,G |
| rs111033757 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648819 | T | C |
| rs111033758 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648821 | G | A |
| rs111033759 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648822 | C | A |
| rs111033761 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648851 | G | A |
| rs111033762 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | NA | 9 | 34648852 | CATGTGCGGCGG | -,ATGTGCGGCGG |
| rs111033763 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648859 | G | C |
| rs111033764 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648867 | C | G |
| rs111033765 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648886 | A | G |
| rs111033766 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648888 | C | G,T |
| rs111033767 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648996 | A | G |
| rs111033769 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648830 | G | T |
| rs111033770 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648842 | GCC | - |
| rs111033772 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649021 | C | G |
| rs111033773 | 17876724 | 2592 | GALT | umls:C0268151 | BeFree | Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L). | 0.375200745 | 2007 | GALT | 9 | 34649032 | G | T |
| rs111033773 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649032 | G | T |
| rs111033774 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649042 | C | T |
| rs111033775 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649043 | T | G |
| rs111033777 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649001 | T | - |
| rs111033778 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649010 | T | A,C |
| rs111033779 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649013 | T | G |
| rs111033780 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649048 | G | A |
| rs111033781 | 10220154 | 2592 | GALT | umls:C0268151 | BeFree | Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. | 0.375200745 | 1999 | GALT | 9 | 34649058 | T | A |
| rs111033781 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649058 | T | A |
| rs111033782 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649059 | T | - |
| rs111033783 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649060 | C | A |
| rs111033784 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649427 | G | A |
| rs111033785 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649454 | C | - |
| rs111033786 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649455 | A | G |
| rs111033787 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649456 | G | T |
| rs111033788 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649457 | C | - |
| rs111033790 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649452 | G | A |
| rs111033791 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649453 | G | A |
| rs111033792 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649462 | C | A,T |
| rs111033794 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649479 | C | T |
| rs111033795 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649463 | G | A |
| rs111033796 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649472 | T | C,G |
| rs111033798 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649475 | C | T |
| rs111033799 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649481 | C | - |
| rs111033800 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649502 | C | G,T |
| rs111033800 | 7550229 | 2592 | GALT | umls:C0268151 | BeFree | We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in two Japanese patients with GALT deficiency and identified N314D and R333W mutations, previously found in Caucasians. | 0.375200745 | 1995 | GALT | 9 | 34649502 | C | G,T |
| rs111033801 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649484 | C | - |
| rs111033802 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649488 | G | A |
| rs111033803 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649491 | C | T |
| rs111033804 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649494 | C | T |
| rs111033806 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649523 | G | A,T |
| rs111033808 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649503 | G | A,T |
| rs111033809 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649506 | A | G |
| rs111033810 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649511 | A | G,T |
| rs111033811 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649519 | C | G |
| rs111033812 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649529 | C | A |
| rs111033813 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649556 | C | - |
| rs111033814 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649535 | C | A |
| rs111033815 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649539 | C | A |
| rs111033816 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649552 | C | - |
| rs111033817 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649553 | A | G |
| rs111033818 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649562 | C | G,T |
| rs111033819 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT;IL11RA | 9 | 34650441 | A | G |
| rs111033821 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649620 | C | T |
| rs111033822 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT;IL11RA | 9 | 34650407 | C | A |
| rs111033823 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT;IL11RA | 9 | 34650417 | C | T |
| rs111033824 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT;IL11RA | 9 | 34650447 | T | C |
| rs111033825 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648427 | - | G |
| rs111033826 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648160 | C | T |
| rs111033827 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT;IL11RA | 9 | 34650449 | A | C |
| rs111033828 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648148 | T | G |
| rs111033829 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647104 | G | A |
| rs111033830 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648343 | A | G |
| rs111033831 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648889 | G | A |
| rs111033832 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649485 | T | C |
| rs111033833 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648404 | A | C |
| rs111033834 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647096 | G | C |
| rs111033836 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647106 | T | A |
| rs111033838 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648793 | TAGTACTGGT | - |
| rs111033839 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648116 | T | A,C |
| rs111033841 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649049 | A | T |
| rs111033843 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648771 | G | C |
| rs111033844 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648146 | G | A,T |
| rs111033845 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648844 | C | T |
| rs111033846 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648449 | T | C |
| rs111033848 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34646729 | C | T |
| rs111033849 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647569 | T | C |
| rs121908047 | 23732289 | 2582 | GALE | umls:C0268151 | BeFree | Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia. | 0.003800186 | 2013 | GALE | 1 | 23798188 | C | T |
| rs193922247 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647209 | A | C |
| rs193922248 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647839 | A | T |
| rs193922250 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648457 | G | T |
| rs2070074 | 17876724 | 2592 | GALT | umls:C0268151 | BeFree | Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L). | 0.375200745 | 2007 | GALT | 9 | 34649445 | A | G |
| rs2070074 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649445 | A | G |
| rs2070074 | 25592817 | 2592 | GALT | umls:C0268151 | UNIPROT | In silico analysis (SIFT, PolyPhen-2 and the computational analysis on the static protein structure) showed potentially damaging effects of the six new variations on the GALT protein, thus expanding the genetic spectrum of GALT variations in Italy. | 0.375200745 | 2015 | GALT | 9 | 34649445 | A | G |
| rs2070074 | 9012409 | 2592 | GALT | umls:C0268151 | BeFree | We conclude that the codon change N314D in cis with the base-pair transition 1721C-->T produces the LA variant of galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability. | 0.375200745 | 1997 | GALT | 9 | 34649445 | A | G |
| rs2070074 | 7550229 | 2592 | GALT | umls:C0268151 | BeFree | We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in two Japanese patients with GALT deficiency and identified N314D and R333W mutations, previously found in Caucasians. | 0.375200745 | 1995 | GALT | 9 | 34649445 | A | G |
| rs2070074 | 22963887 | 2592 | GALT | umls:C0268151 | BeFree | The functionally neutral N314D variation in the GALT gene is associated with Duarte galactosemia and is widespread among various worldwide populations. | 0.375200745 | 2012 | GALT | 9 | 34649445 | A | G |
| rs2070075 | 17876724 | 2592 | GALT | umls:C0268151 | BeFree | Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L). | 0.375200745 | 2007 | GALT | 9 | 34648421 | C | G,T |
| rs2070075 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648421 | C | G,T |
| rs367543252 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647547 | A | G |
| rs367543254 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647664 | T | C |
| rs367543255 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647843 | G | A |
| rs367543256 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647850 | C | A,T |
| rs367543257 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647950 | C | G |
| rs367543258 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647956 | G | T |
| rs367543259 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648149 | C | T |
| rs367543262 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649034 | A | G |
| rs367543263 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649031 | A | G |
| rs367543264 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649086 | G | A |
| rs367543265 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649425 | C | A |
| rs367543266 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649466 | C | T |
| rs367543267 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649473 | A | G |
| rs367543268 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT;IL11RA | 9 | 34650368 | G | A |
| rs367543269 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647853 | - | CC |
| rs367543270 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | NA | NA | NA | NA | NA |
| rs367543271 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649082 | G | A,T |
| rs367543272 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649464 | C | T |
| rs368166217 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648846 | C | T |
| rs397515628 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647864 | - | T |
| rs397515629 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT;IL11RA | 9 | 34650381 | C | - |
| rs398123179 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647528 | AAC | - |
| rs398123181 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648114 | G | C |
| rs398123183 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648334 | GTATGGGCCAGCAG | - |
| rs398123184 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648337 | T | C |
| rs398123185 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648760 | A | C |
| rs398123187 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649408 | A | G |
| rs398123188 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649490 | T | C |
| rs515726228 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT;IL11RA | 9 | 34650387 | GCACTT | NNNNNNNNNNNNNNNNNNNN |
| rs749047676 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT;IL11RA | 9 | 34650448 | G | A,C |
| rs75391579 | 25592817 | 2592 | GALT | umls:C0268151 | UNIPROT | In silico analysis (SIFT, PolyPhen-2 and the computational analysis on the static protein structure) showed potentially damaging effects of the six new variations on the GALT protein, thus expanding the genetic spectrum of GALT variations in Italy. | 0.375200745 | 2015 | GALT | 9 | 34648170 | A | G |
| rs75391579 | 9222760 | 2592 | GALT | umls:C0268151 | BeFree | Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. | 0.375200745 | 1997 | GALT | 9 | 34648170 | A | G |
| rs75391579 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648170 | A | G |
| rs75391579 | 15689161 | 2592 | GALT | umls:C0268151 | BeFree | Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of molecular effects of the mutation on homo- and heterodimers. | 0.375200745 | 2005 | GALT | 9 | 34648170 | A | G |
| rs75391579 | 17876724 | 2592 | GALT | umls:C0268151 | BeFree | Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L). | 0.375200745 | 2007 | GALT | 9 | 34648170 | A | G |
| rs786200978 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34647899 | - | G |
| rs786204763 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648849 | C | T |
| rs794726876 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34646788 | T | - |
| rs794726970 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649557 | C | - |
| rs794726971 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34649409 | G | A |
| rs794727838 | NA | 2592 | GALT | umls:C0268151 | CLINVAR | NA | 0.375200745 | NA | GALT | 9 | 34648341 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003811 | Neonatal death | MP:0002083 | premature death | death after weaning age, but before the normal life span (Mus: after 3 weeks of age) |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0001399 | Hepatic failure | MP:0006138 | congestive heart failure | cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blo |
| HP:0001892 | Abnormal bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0000868 | Decreased fertility in females | MP:0001921 | reduced fertility | diminished ability to produce live offspring |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:23) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001399 | Hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000868 | Decreased fertility in females | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0011968 | Feeding difficulties | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0004915 | Impairment of galactose metabolism | MP:0013279 | increased fasted circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001892 | Abnormal bleeding | MP:0020138 | delayed bone mineralization | late onset of the process by which minerals are deposited into bone |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0009088 | Speech articulation difficulties | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0100806 | Sepsis | MP:0011708 | decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011098 | Speech apraxia | MP:0011092 | embryonic lethality, complete penetrance | death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14) |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0003811 | Neonatal death | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1086 |
|---|---|
| Disease | classic galactosemia |
| Case | (Waiting for update.) |