GBE1 (1,4-alpha-glucan branching enzyme 1)

Gene

• Entrez ID: 2632
• Gene name: 1,4-alpha-glucan branching enzyme 1
• Gene symbol: GBE1
• Synonyms (NCBI Gene): APBD, GBE, GSD4
• Chromosome: 3
• Chromosome location: 3p12.2
• Summary: The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the ch

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs36099971	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs80338671	T>C,G	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs80338672	G>A	Pathogenic	Missense variant, coding sequence variant
rs80338673	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852886	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs137852887	A>T	Pathogenic	Missense variant, coding sequence variant
rs137852888	G>A,C	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs137852889	T>C	Pathogenic	Missense variant, coding sequence variant
rs137852890	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs137852891	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs137852892	C>G	Pathogenic	Missense variant, coding sequence variant
rs137852893	G>A	Pathogenic	Missense variant, coding sequence variant
rs137852894	C>T	Pathogenic	Stop gained, coding sequence variant
rs139882066	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs192044702	A>G	Pathogenic	Splice donor variant
rs201958741	C>T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs369574719	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs372821643	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs397515342	C>T	Pathogenic	Splice acceptor variant
rs397515343	C>T	Pathogenic	Splice donor variant
rs397515344	C>G	Pathogenic	Intron variant
rs539203557	A>C,G	Likely-pathogenic	Splice donor variant
rs552094593	G>A,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs758504480	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs763016962	C>A	Pathogenic	Splice acceptor variant
rs766935302	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs770427750	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs774465102	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs869312919	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869320698	CCACCACAC>ACCTGTCATGTAAAAAACA	Pathogenic	Intron variant
rs886058900	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517315	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553683560	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553684545	T>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1553690406	C>A	Pathogenic	Stop gained, coding sequence variant
rs1559637815	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1575782181	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1576137368	AGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1576183537	A>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1013779	hsa-miR-1256	CLIP-seq
MIRT1013780	hsa-miR-1261	CLIP-seq
MIRT1013781	hsa-miR-193a-3p	CLIP-seq
MIRT1013782	hsa-miR-193b	CLIP-seq
MIRT1013783	hsa-miR-3138	CLIP-seq
MIRT1013784	hsa-miR-3200-3p	CLIP-seq
MIRT1013785	hsa-miR-3201	CLIP-seq
MIRT1013786	hsa-miR-3662	CLIP-seq
MIRT1013787	hsa-miR-3671	CLIP-seq
MIRT1013788	hsa-miR-3681	CLIP-seq
MIRT1013789	hsa-miR-4460	CLIP-seq
MIRT1013790	hsa-miR-4499	CLIP-seq
MIRT1013791	hsa-miR-4698	CLIP-seq
MIRT1013792	hsa-miR-4719	CLIP-seq
MIRT1013793	hsa-miR-4720-5p	CLIP-seq
MIRT1013794	hsa-miR-4724-3p	CLIP-seq
MIRT1013795	hsa-miR-4727-3p	CLIP-seq
MIRT1013796	hsa-miR-4791	CLIP-seq
MIRT1013797	hsa-miR-4799-3p	CLIP-seq
MIRT1013798	hsa-miR-485-3p	CLIP-seq
MIRT1013799	hsa-miR-548u	CLIP-seq
MIRT1013800	hsa-miR-556-3p	CLIP-seq
MIRT1013801	hsa-miR-607	CLIP-seq
MIRT1013802	hsa-miR-656	CLIP-seq
MIRT1013803	hsa-miR-892b	CLIP-seq
MIRT2000288	hsa-miR-135a	CLIP-seq
MIRT2000289	hsa-miR-135b	CLIP-seq
MIRT2000290	hsa-miR-4305	CLIP-seq
MIRT2000291	hsa-miR-4422	CLIP-seq
MIRT2000292	hsa-miR-4504	CLIP-seq
MIRT2000293	hsa-miR-4645-3p	CLIP-seq
MIRT2000294	hsa-miR-4666-5p	CLIP-seq
MIRT2000295	hsa-miR-4742-3p	CLIP-seq
MIRT2000296	hsa-miR-4766-5p	CLIP-seq
MIRT2000297	hsa-miR-4778-5p	CLIP-seq
MIRT2000298	hsa-miR-542-3p	CLIP-seq
MIRT2000299	hsa-miR-548n	CLIP-seq
MIRT2000300	hsa-miR-548t	CLIP-seq
MIRT2000301	hsa-miR-549	CLIP-seq
MIRT2000302	hsa-miR-630	CLIP-seq
MIRT2000288	hsa-miR-135a	CLIP-seq
MIRT2000289	hsa-miR-135b	CLIP-seq
MIRT2233721	hsa-miR-4275	CLIP-seq
MIRT2000290	hsa-miR-4305	CLIP-seq
MIRT2000301	hsa-miR-549	CLIP-seq
MIRT2000296	hsa-miR-4766-5p	CLIP-seq
MIRT1013779	hsa-miR-1256	CLIP-seq
MIRT1013781	hsa-miR-193a-3p	CLIP-seq
MIRT1013782	hsa-miR-193b	CLIP-seq
MIRT1013793	hsa-miR-4720-5p	CLIP-seq
MIRT1013797	hsa-miR-4799-3p	CLIP-seq
MIRT1013803	hsa-miR-892b	CLIP-seq
MIRT1013783	hsa-miR-3138	CLIP-seq
MIRT2537582	hsa-miR-3143	CLIP-seq
MIRT1013787	hsa-miR-3671	CLIP-seq
MIRT1013788	hsa-miR-3681	CLIP-seq
MIRT2537583	hsa-miR-4307	CLIP-seq
MIRT2537584	hsa-miR-4452	CLIP-seq
MIRT1013789	hsa-miR-4460	CLIP-seq
MIRT2537585	hsa-miR-4662a-5p	CLIP-seq
MIRT2537586	hsa-miR-4676-5p	CLIP-seq
MIRT1013791	hsa-miR-4698	CLIP-seq
MIRT1013795	hsa-miR-4727-3p	CLIP-seq
MIRT2537587	hsa-miR-4803	CLIP-seq
MIRT2537588	hsa-miR-548p	CLIP-seq
MIRT2537589	hsa-miR-575	CLIP-seq
MIRT1013801	hsa-miR-607	CLIP-seq
MIRT1013802	hsa-miR-656	CLIP-seq
MIRT1013779	hsa-miR-1256	CLIP-seq
MIRT1013781	hsa-miR-193a-3p	CLIP-seq
MIRT1013782	hsa-miR-193b	CLIP-seq
MIRT1013783	hsa-miR-3138	CLIP-seq
MIRT2537582	hsa-miR-3143	CLIP-seq
MIRT1013787	hsa-miR-3671	CLIP-seq
MIRT1013788	hsa-miR-3681	CLIP-seq
MIRT2537583	hsa-miR-4307	CLIP-seq
MIRT2537584	hsa-miR-4452	CLIP-seq
MIRT1013789	hsa-miR-4460	CLIP-seq
MIRT2537585	hsa-miR-4662a-5p	CLIP-seq
MIRT2537586	hsa-miR-4676-5p	CLIP-seq
MIRT1013791	hsa-miR-4698	CLIP-seq
MIRT1013793	hsa-miR-4720-5p	CLIP-seq
MIRT1013795	hsa-miR-4727-3p	CLIP-seq
MIRT1013797	hsa-miR-4799-3p	CLIP-seq
MIRT2537587	hsa-miR-4803	CLIP-seq
MIRT2537588	hsa-miR-548p	CLIP-seq
MIRT2537589	hsa-miR-575	CLIP-seq
MIRT1013801	hsa-miR-607	CLIP-seq
MIRT1013802	hsa-miR-656	CLIP-seq
MIRT1013803	hsa-miR-892b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0003844	Function	1,4-alpha-glucan branching enzyme activity	EXP	8613547
GO:0003844	Function	1,4-alpha-glucan branching enzyme activity	IBA
GO:0003844	Function	1,4-alpha-glucan branching enzyme activity	IDA	26199317
GO:0003844	Function	1,4-alpha-glucan branching enzyme activity	IEA
GO:0003844	Function	1,4-alpha-glucan branching enzyme activity	TAS	8613547
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0005515	Function	Protein binding	IPI	24837458, 36217029
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	TAS	8613547
GO:0005978	Process	Glycogen biosynthetic process	IBA
GO:0005978	Process	Glycogen biosynthetic process	IDA	26199317
GO:0005978	Process	Glycogen biosynthetic process	IEA
GO:0005978	Process	Glycogen biosynthetic process	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	8613547
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0043169	Function	Cation binding	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 607839
• HGNC: 4180
• e!Ensembl: ENSG00000114480

Protein

• UniProt ID: Q04446
• Protein name: 1,4-alpha-glucan-branching enzyme (EC 2.4.1.18) (Brancher enzyme) (Glycogen-branching enzyme)
• Protein function: Glycogen-branching enzyme participates in the glycogen biosynthetic process along with glycogenin and glycogen synthase. Generates alpha-1,6-glucosidic branches from alpha-1,4-linked glucose chains, to increase solubility of the glycogen polymer
• PDB: 4BZY, 5CLT, 5CLW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02922	CBM_48	75 → 161	Carbohydrate-binding module 48 (Isoamylase N-terminal domain)	Domain
  PF00128	Alpha-amylase	220 → 338	Alpha amylase, catalytic domain	Domain
  PF02806	Alpha-amylase_C	603 → 698	Alpha amylase, C-terminal all-beta domain	Domain

• Sequence:

  MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIG
  ENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYG
  KWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDP
  EHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAI
  MEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGL
  NMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVT
  SMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPAL
  CSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESH
  DQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMG
  NEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAP
  QAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGH
  QRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN

• Sequence length: 702

Pathways

KEGG:

Starch and sucrose metabolism
Metabolic pathways

Reactome:

Glycogen synthesis
Glycogen storage disease type IV (GBE1)

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs192044702	RCV005892214
Adrenocortical carcinoma, hereditary	Likely pathogenic; Pathogenic	rs192044702	RCV005892215
Adult polyglucosan body disease	Likely pathogenic; Pathogenic	rs1209123501, rs772802187, rs779475367, rs2107114808, rs2107074878, rs2106809795, rs80338671, rs137852886, rs137852888, rs137852891, rs137852892, rs201958741, rs2471917613, rs2471826563, rs1269375163, rs192044702, rs869320698, rs1704706313, rs886058900, rs1559637815, rs937683680, rs1057517315, rs1553690406, rs539203557	RCV005023087 RCV005038349 RCV003494573 RCV005032000 RCV005023469 RCV005032119 RCV000763520 RCV005024995 RCV002490300 RCV005024997 RCV005024998 RCV001826858 RCV004796766 RCV005869892 RCV005025953 RCV000660553 RCV001526450 RCV005030040 RCV005033881 RCV005030267 RCV005038704 RCV005027465 RCV005034043 RCV005029456
Adult polyglucosan body neuropathy	Pathogenic; Likely pathogenic	rs80338671, rs137852886, rs80338673, rs201958741, rs869320698	RCV000150105 RCV000210781 RCV000150107 RCV000157612 RCV000210799
Arthrogryposis syndrome	Likely pathogenic; Pathogenic	rs192044702	RCV005621909
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs192044702	RCV005892216
Cutis laxa, autosomal recessive, type 1B	Likely pathogenic	rs2106933976	RCV001806324
Dementia	Likely pathogenic; Pathogenic	rs192044702	RCV005625419
Familial cancer of breast	Likely pathogenic; Pathogenic	rs192044702	RCV005892213
Familial pancreatic carcinoma	Likely pathogenic; Pathogenic	rs192044702	RCV005892217
GBE1-related disorder	Likely pathogenic; Pathogenic	rs1224090803, rs1370223073, rs2107168870, rs80338671, rs137852892, rs201958741, rs192044702, rs2471727172, rs869320698, rs766935302, rs886058900, rs758504480, rs781198373	RCV003317492 RCV004531199 RCV004528497 RCV000304728 RCV004532277 RCV004535028 RCV000368399 RCV004529306 RCV004534266 RCV000303766 RCV000329434 RCV004732923 RCV004536067
Glycogen storage disease	Pathogenic; Likely pathogenic	rs80338671, rs137852892, rs192044702	RCV006255117 RCV005865153 RCV001449661
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	Likely pathogenic; Pathogenic	rs137852888, rs137852891	RCV000002914 RCV000002922
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	Likely pathogenic; Pathogenic	rs397515342, rs137852890, rs137852892, rs397515344, rs137852894	RCV000002906 RCV000002920 RCV000002924 RCV000002926 RCV000002927
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	Pathogenic; Likely pathogenic	rs397515343, rs137852889	RCV000002918 RCV000002919
Glycogen storage disease IV, classic hepatic	Likely pathogenic; Pathogenic	rs752625236, rs1175447973, rs1209123501, rs1224090803, rs1273791312, rs772349876, rs2107250439, rs1412857849, rs773775991, rs1703673227, rs375253942, rs2107059544, rs559653237, rs1370223073, rs2107168870, rs774709930, rs2106938514, rs772802187, rs779475367, rs2107114825, rs1328296506, rs1703799803, rs2107114808, rs2107059792, rs763258786, rs2106872434, rs375596642, rs2106810015, rs2107250805, rs2106869587, rs2106938660, rs773381709, rs1475447884, rs2107074878, rs2106957076, rs2107114812, rs2107169014, rs2106809957, rs776943352, rs2106809795, rs397515342, rs80338671, rs137852886, rs80338672, rs137852888, rs80338673, rs397515343, rs137852889, rs137852891, rs137852892, rs397515344, rs201958741, rs2471917613, rs2471675160, rs2471826563, rs1269375163, rs2471722852, rs780374709, rs2471864436, rs192044702, rs2471826054, rs772910188, rs772401056, rs2471822543, rs2471675336, rs2471673344, rs2471828509, rs2471740178, rs2471740271, rs762781855, rs869312919, rs2471744884, rs766935302, rs886058900, rs2471740325, rs1559637815, rs2471744994, rs1199237900, rs1705762883, rs1248821695, rs2471675648, rs2471826221, rs1391883361, rs2471727316, rs2471864589, rs767100121, rs2471917414, rs1559673607, rs1183285612, rs1300268316, rs1295929595, rs758286394, rs2471633372, rs2471744785, rs2471722766, rs754525424, rs2471917592, rs2471817112, rs2471740291, rs2471864491, rs2471727306, rs1344212943, rs2471722837, rs2471733937, rs1057517315, rs774465102, rs758504480, rs763016962, rs1559673456, rs777589783, rs539203557, rs1703086906, rs1703726090, rs781198373, rs1703800818, rs1490328834, rs1705761854, rs773473771, rs1703670302, rs1407149518	RCV003808596 RCV002610130 RCV001361784 RCV001378284 RCV001378063 RCV001377889 RCV001377854 RCV001381330 RCV001390489 RCV001381995 RCV001381386 RCV001380106 RCV001381687 RCV001390980 RCV001384176 RCV001389224 RCV002541146 RCV002545206 RCV001869839 RCV001998192 RCV001936975 RCV001978972 RCV001960590 RCV001960448 RCV001996151 RCV001996282 RCV002042877 RCV001978113 RCV002002387 RCV002000003 RCV001887833 RCV001939621 RCV002037316 RCV001945786 RCV001960656 RCV001941525 RCV001971933 RCV001949351 RCV001912126 RCV002023786 RCV002009938 RCV003764518 RCV000555363 RCV001050904 RCV000002910 RCV000002913 RCV001043400 RCV001851595 RCV003764519 RCV001851596 RCV001851597 RCV002512688 RCV000692455 RCV003061679 RCV002667509 RCV002671798 RCV002700047 RCV002755044 RCV002750823 RCV002797325 RCV000706641 RCV002820223 RCV002816218 RCV002881700 RCV002853478 RCV002866913 RCV002899991 RCV002929021 RCV003012050 RCV003026990 RCV003042648 RCV003048031 RCV002515586 RCV003779036 RCV000808547 RCV001850838 RCV003785402 RCV003781839 RCV003782789 RCV003781008 RCV003781337 RCV003795487 RCV003780444 RCV003787415 RCV003792876 RCV003786355 RCV003794270 RCV003792142 RCV003807948 RCV003805392 RCV003803927 RCV003804308 RCV003798622 RCV003802770 RCV003798743 RCV003795159 RCV003808725 RCV003808940 RCV003804766 RCV003817863 RCV003809432 RCV003810079 RCV003813365 RCV003812707 RCV003810507 RCV003802495 RCV003805044 RCV000706367 RCV001203493 RCV001048981 RCV003767090 RCV000687227 RCV001856173 RCV000794025 RCV000792208 RCV001052710 RCV001035503 RCV001037666 RCV001069440 RCV001046133 RCV001053285 RCV001224752 RCV001218759 RCV001247939
Glycogen storage disease IV, combined hepatic and myopathic	Likely pathogenic; Pathogenic	rs80338673, rs1575782181	RCV000002915 RCV000002923
Glycogen storage disease IV, nonprogressive hepatic	Pathogenic; Likely pathogenic	rs80338671, rs137852886	RCV000002907 RCV000002909
Glycogen storage disease, type IV	Likely pathogenic; Pathogenic	rs752625236, rs1175447973, rs1209123501, rs1224090803, rs1273791312, rs772349876, rs2107250439, rs1412857849, rs773775991, rs1703673227, rs375253942, rs2107059544, rs559653237, rs1370223073, rs2107168870, rs774709930, rs2106938514, rs772802187, rs779475367, rs773558446, rs2107114825, rs1328296506, rs1703799803, rs2107114808, rs2107059792, rs763258786, rs2106872434, rs375596642, rs2106810015, rs2107250805, rs2106869587, rs2106938660, rs773381709, rs1475447884, rs2107074878, rs2106957076, rs2107114812, rs2107169014, rs2106809957, rs776943352, rs2106809795, rs397515342, rs80338671, rs137852886, rs80338672, rs137852888, rs80338673, rs397515343, rs137852889, rs137852890, rs137852891, rs137852892, rs397515344, rs137852894, rs201958741, rs2471917613, rs2471675160, rs2471826563, rs1269375163, rs2471722852, rs780374709, rs2471864436, rs192044702, rs2471826054, rs772910188, rs772401056, rs2471822543, rs2471675336, rs2471673344, rs2471828509, rs2471740178, rs2471740271, rs762781855, rs869312919, rs869320698, rs2471822311, rs2471744884, rs2471675503, rs2471675343, rs2471816852, rs774160163, rs2471826564, rs2471745030, rs2471740235, rs1704706313, rs2471727330, rs2471822309, rs2471727144, rs2471816999, rs1703800535, rs1704763968, rs2471744989, rs2106938620, rs2471733954, rs766935302, rs886058900, rs2471740325, rs1559637815, rs2471744994, rs1199237900, rs1705762883, rs1248821695, rs2471675648, rs2471826221, rs1391883361, rs2471727316, rs2471864589, rs767100121, rs2471917414, rs1559673607, rs1183285612, rs1300268316, rs1295929595, rs758286394, rs2471633372, rs2471744785, rs2471722766, rs754525424, rs2471917592, rs2471817112, rs2471740291, rs2471864491, rs2471727306, rs1344212943, rs2471722837, rs2471733937, rs937683680, rs1277328500, rs2471733960, rs1300936013, rs1236879367, rs2471673266, rs1295205981, rs1057517315, rs1553690406, rs774465102, rs758504480, rs763016962, rs1553684545, rs1559673456, rs777589783, rs539203557, rs1576183537, rs1703086906, rs1703726090, rs781198373, rs1703800818, rs1490328834, rs1705761854, rs773473771, rs1703670302, rs1407149518	RCV003808596 RCV002610130 RCV001361784 RCV001378284 RCV001378063 RCV001377889 RCV001377854 RCV001381330 RCV001390489 RCV001381995 RCV001381386 RCV001380106 RCV001381687 RCV001390980 RCV001384176 RCV001389224 RCV002541146 RCV001829299 RCV001829308 RCV001829309 RCV001998192 RCV001936975 RCV001978972 RCV001960590 RCV001960448 RCV001996151 RCV001996282 RCV002042877 RCV001978113 RCV002002387 RCV002000003 RCV001887833 RCV001939621 RCV002037316 RCV001945786 RCV001960656 RCV001941525 RCV001971933 RCV001949351 RCV001912126 RCV002023786 RCV002009938 RCV003764518 RCV000020163 RCV000056134 RCV000020161 RCV000056093 RCV000020162 RCV000056092 RCV000056095 RCV000056097 RCV000056098 RCV001580444 RCV000056135 RCV000056096 RCV000692455 RCV003061679 RCV002667509 RCV002671798 RCV002700047 RCV002755044 RCV002750823 RCV002797325 RCV000190589 RCV002820223 RCV002816218 RCV002881700 RCV002853478 RCV002866913 RCV002899991 RCV002929021 RCV003012050 RCV003026990 RCV003042648 RCV003048031 RCV002515586 RCV005240767 RCV003468253 RCV003461661 RCV003461662 RCV003461664 RCV003461665 RCV003468254 RCV003461666 RCV003461667 RCV003461668 RCV003461669 RCV003461670 RCV003468255 RCV003468256 RCV003468257 RCV003461671 RCV003468258 RCV003461672 RCV003461673 RCV003461674 RCV003468259 RCV003461675 RCV000808547 RCV001850838 RCV003785402 RCV003781839 RCV003782789 RCV003781008 RCV003781337 RCV003795487 RCV003780444 RCV003787415 RCV003792876 RCV003786355 RCV003794270 RCV003792142 RCV003807948 RCV003805392 RCV003803927 RCV003804308 RCV003798622 RCV003802770 RCV003798743 RCV003795159 RCV003808725 RCV003808940 RCV003804766 RCV003817863 RCV003809432 RCV003810079 RCV003813365 RCV003812707 RCV003810507 RCV003802495 RCV003805044 RCV004527218 RCV004576669 RCV004576670 RCV004576671 RCV004576672 RCV004576673 RCV004576674 RCV004576675 RCV004576676 RCV000409231 RCV000500431 RCV001275350 RCV001048981 RCV000560920 RCV000723295 RCV000680446 RCV000687227 RCV001856173 RCV000794025 RCV000792208 RCV000987294 RCV001052710 RCV001035503 RCV001037666 RCV001069440 RCV001046133 RCV001053285 RCV001224752 RCV001218759 RCV001247939
Osteogenesis imperfecta type 15	Likely pathogenic	rs768485124	RCV001806325
Sarcoma	Likely pathogenic; Pathogenic	rs192044702	RCV005892218
See cases	Likely pathogenic; Pathogenic	rs776943352, rs201958741	RCV002252715 RCV002252009

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity	rs552094593	RCV000855462
Fetal akinesia deformation sequence 1	Conflicting classifications of pathogenicity	rs552094593	RCV000855462
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs201166587	RCV005903033
Polyneuropathy	Uncertain significance	rs552335025	RCV001844424

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	28423489, 31221150, 32439898
Atrophy	Associate	23034915
Autism Spectrum Disorder	Associate	34633740
Autistic Disorder	Associate	34633740
Carcinogenesis	Associate	19911042
Cardiomyopathy Dilated	Associate	31527204
Glycogen Storage Disease	Associate	22899091, 33782433
Glycogen Storage Disease Type IV	Associate	17452581, 23034915, 24248152, 26199317, 31527204, 8613547
Hypoxia	Associate	28423489, 31221150
Hypoxia	Stimulate	32439898
Hypoxia Ischemia Brain	Associate	38545656
Inflammation	Associate	28355295
Leukoencephalopathies	Associate	34626176
Liver Failure	Associate	24248152
Lung Neoplasms	Associate	28423489, 31221150
Multiple Sclerosis	Associate	24248152
Muscular Atrophy Spinal	Associate	23034915
Neoplasm Metastasis	Associate	27974698, 32439898
Neoplasms	Inhibit	31221150
Neoplasms	Associate	32439898
Nervous System Diseases	Associate	24248152
Neurologic Manifestations	Associate	24248152
Neuromuscular Diseases	Associate	26578207
Neuromuscular Manifestations	Associate	8613547
Obesity	Inhibit	26356733
Paraplegia	Associate	23034915
Polyglucosan Body Disease Adult Form	Associate	17994551, 23034915, 24248152, 26199317, 28630259
Spinocerebellar Ataxias	Associate	24248152
Tuberculosis Pulmonary	Associate	28355295
Urinary Bladder Neurogenic	Associate	23034915
Uterine Cervical Neoplasms	Associate	19911042