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Search: '232500 607839 (Search in: MIM number)'
Results: 2 entries.

1:
* 607839. GLYCOGEN BRANCHING ENZYME; GBE1
Cytogenetic location: 3p12.2, Genomic coordinates (GRCh38): 3:81,489,703-81,761,645
Matching terms: 607839
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
3p12.2 Glycogen storage disease IV 232500 AR 3
Polyglucosan body disease, adult form 263570 AR 3

2:
# 232500. GLYCOGEN STORAGE DISEASE IV; GSD4
GSD IV, CLASSIC HEPATIC, INCLUDED
Cytogenetic location: 3p12.2
Matching terms: 232500
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
3p12.2 Glycogen storage disease IV 232500 AR 3 GBE1 607839
Glycogen storage disease - PS232200 - 24 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
1p31.3 Congenital disorder of glycosylation, type It AR 3 614921 PGM1 171900
1p21.2 Glycogen storage disease IIIb AR 3 232400 AGL 610860
1p21.2 Glycogen storage disease IIIa AR 3 232400 AGL 610860
3p12.2 Glycogen storage disease IV AR 3 232500 GBE1 607839
3q24 ?Glycogen storage disease XV AR 3 613507 GYG1 603942
7p13 Glycogen storage disease X AR 3 261670 PGAM2 612931
7q36.1 Glycogen storage disease of heart, lethal congenital AD 3 261740 PRKAG2 602743
11p15.1 Glycogen storage disease XI AR 3 612933 LDHA 150000
11q13.1 McArdle disease AR 3 232600 PYGM 608455
11q23.3 Glycogen storage disease Ic AR 3 232240 SLC37A4 602671
11q23.3 Glycogen storage disease Ib AR 3 232220 SLC37A4 602671
12p12.1 Glycogen storage disease 0, liver AR 3 240600 GYS2 138571
12q13.11 Glycogen storage disease VII AR 3 232800 PFKM 610681
14q22.1 Glycogen storage disease VI AR 3 232700 PYGL 613741
16p11.2 Glycogen storage disease XII AR 3 611881 ALDOA 103850
16p11.2 Glycogen storage disease IXc AR 3 613027 PHKG2 172471
16q12.1 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive AR 3 261750 PHKB 172490
17p13.2 Glycogen storage disease XIII AR 3 612932 ENO3 131370
17q21.31 Glycogen storage disease Ia AR 3 232200 G6PC 613742
17q25.3 Glycogen storage disease II AR 3 232300 GAA 606800
19q13.33 Glycogen storage disease 0, muscle AR 3 611556 GYS1 138570
Xp22.13 Glycogen storage disease, type IXa1 XLR 3 306000 PHKA2 300798
Xp22.13 Glycogen storage disease, type IXa2 XLR 3 306000 PHKA2 300798
Xq13.1 Muscle glycogenosis XLR 3 300559 PHKA1 311870
ICD+
SNOMEDCT: 11179002, 124267007
ICD10CM: E74.09
ORPHA: 308621, 308638, 308655, 308670, 308684, 308698, 308712, 367
DO: 2750
Search: 232500 607839 (Search in: MIM number)
Results: 2 entries.

1:
* 607839. GLYCOGEN BRANCHING ENZYME; GBE1
Cytogenetic location: 3p12.2, Genomic coordinates (GRCh38): 3:81,489,703-81,761,645
Matching terms: 607839

2:
# 232500. GLYCOGEN STORAGE DISEASE IV; GSD4
GSD IV, CLASSIC HEPATIC, INCLUDED
Cytogenetic location: 3p12.2
Matching terms: 232500