Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1203
Gene name	CLN5 lysosomal BMP synthase
Gene symbol	CLN5
Synonyms (NCBI Gene)	-
Chromosome	13
Chromosome location	13q22.3
Summary	This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61504484	C>A,G,T	Pathogenic, likely-benign	Upstream transcript variant
rs200353554	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Upstream transcript variant
rs201615354	T>A,C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant
rs765323914	G>-	Pathogenic	Upstream transcript variant

199

Show/Hide all (199)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022416	hsa-miR-124-3p	Microarray	18668037
MIRT897034	hsa-miR-1207-5p	CLIP-seq
MIRT897035	hsa-miR-1238	CLIP-seq
MIRT897036	hsa-miR-3663-5p	CLIP-seq
MIRT897037	hsa-miR-4269	CLIP-seq
MIRT897038	hsa-miR-4521	CLIP-seq
MIRT897039	hsa-miR-4668-3p	CLIP-seq
MIRT897040	hsa-miR-4719	CLIP-seq
MIRT897041	hsa-miR-4736	CLIP-seq
MIRT897042	hsa-miR-4763-3p	CLIP-seq
MIRT897043	hsa-miR-513b	CLIP-seq
MIRT897044	hsa-miR-548a-5p	CLIP-seq
MIRT897045	hsa-miR-548ab	CLIP-seq
MIRT897046	hsa-miR-548ak	CLIP-seq
MIRT897047	hsa-miR-548b-5p	CLIP-seq
MIRT897048	hsa-miR-548c-5p	CLIP-seq
MIRT897049	hsa-miR-548d-5p	CLIP-seq
MIRT897050	hsa-miR-548h	CLIP-seq
MIRT897051	hsa-miR-548i	CLIP-seq
MIRT897052	hsa-miR-548j	CLIP-seq
MIRT897053	hsa-miR-548n	CLIP-seq
MIRT897054	hsa-miR-548w	CLIP-seq
MIRT897055	hsa-miR-548y	CLIP-seq
MIRT897056	hsa-miR-559	CLIP-seq
MIRT897057	hsa-miR-802	CLIP-seq
MIRT1965989	hsa-miR-31	CLIP-seq
MIRT1965990	hsa-miR-323-3p	CLIP-seq
MIRT1965991	hsa-miR-3647-3p	CLIP-seq
MIRT1965992	hsa-miR-375	CLIP-seq
MIRT1965993	hsa-miR-4273	CLIP-seq
MIRT1965994	hsa-miR-4423-3p	CLIP-seq
MIRT1965995	hsa-miR-4677-5p	CLIP-seq
MIRT1965996	hsa-miR-4790-3p	CLIP-seq
MIRT2201872	hsa-miR-186	CLIP-seq
MIRT2201873	hsa-miR-3133	CLIP-seq
MIRT2201874	hsa-miR-34b	CLIP-seq
MIRT2201875	hsa-miR-4661-5p	CLIP-seq
MIRT2201876	hsa-miR-4676-5p	CLIP-seq
MIRT2201877	hsa-miR-4705	CLIP-seq
MIRT2201878	hsa-miR-4731-3p	CLIP-seq
MIRT2201879	hsa-miR-4801	CLIP-seq
MIRT2201880	hsa-miR-483-3p	CLIP-seq
MIRT2201881	hsa-miR-508-5p	CLIP-seq
MIRT2201882	hsa-miR-575	CLIP-seq
MIRT2201883	hsa-miR-935	CLIP-seq
MIRT2386200	hsa-miR-3160-5p	CLIP-seq
MIRT2386201	hsa-miR-3670	CLIP-seq
MIRT2386202	hsa-miR-4652-3p	CLIP-seq
MIRT2386203	hsa-miR-4677-3p	CLIP-seq
MIRT2386204	hsa-miR-4679	CLIP-seq
MIRT2504899	hsa-miR-103a	CLIP-seq
MIRT2504900	hsa-miR-107	CLIP-seq
MIRT2504901	hsa-miR-1184	CLIP-seq
MIRT2504902	hsa-miR-1200	CLIP-seq
MIRT2504903	hsa-miR-1205	CLIP-seq
MIRT2504904	hsa-miR-1253	CLIP-seq
MIRT2504905	hsa-miR-1273f	CLIP-seq
MIRT2504906	hsa-miR-143	CLIP-seq
MIRT2504907	hsa-miR-145	CLIP-seq
MIRT2504908	hsa-miR-146a	CLIP-seq
MIRT2504909	hsa-miR-146b-5p	CLIP-seq
MIRT2504910	hsa-miR-187	CLIP-seq
MIRT2504911	hsa-miR-18a	CLIP-seq
MIRT2504912	hsa-miR-18b	CLIP-seq
MIRT2504913	hsa-miR-2053	CLIP-seq
MIRT2504914	hsa-miR-2277-3p	CLIP-seq
MIRT2504915	hsa-miR-3064-3p	CLIP-seq
MIRT2504916	hsa-miR-3074-5p	CLIP-seq
MIRT2504917	hsa-miR-3120-3p	CLIP-seq
MIRT2504918	hsa-miR-3158-5p	CLIP-seq
MIRT2504919	hsa-miR-3183	CLIP-seq
MIRT2504920	hsa-miR-3185	CLIP-seq
MIRT2504921	hsa-miR-3187-3p	CLIP-seq
MIRT2504922	hsa-miR-346	CLIP-seq
MIRT2201874	hsa-miR-34b	CLIP-seq
MIRT2504923	hsa-miR-3615	CLIP-seq
MIRT2504924	hsa-miR-3909	CLIP-seq
MIRT2504925	hsa-miR-3917	CLIP-seq
MIRT2504926	hsa-miR-3925-3p	CLIP-seq
MIRT2504927	hsa-miR-3926	CLIP-seq
MIRT2504928	hsa-miR-4261	CLIP-seq
MIRT2504929	hsa-miR-4265	CLIP-seq
MIRT2504930	hsa-miR-4288	CLIP-seq
MIRT2504931	hsa-miR-4296	CLIP-seq
MIRT2504932	hsa-miR-4322	CLIP-seq
MIRT2504933	hsa-miR-4324	CLIP-seq
MIRT2504934	hsa-miR-4326	CLIP-seq
MIRT2504935	hsa-miR-4419a	CLIP-seq
MIRT2504936	hsa-miR-4435	CLIP-seq
MIRT2504937	hsa-miR-4496	CLIP-seq
MIRT2504938	hsa-miR-4510	CLIP-seq
MIRT2504939	hsa-miR-4517	CLIP-seq
MIRT2504940	hsa-miR-4648	CLIP-seq
MIRT2504941	hsa-miR-4654	CLIP-seq
MIRT2504942	hsa-miR-4700-3p	CLIP-seq
MIRT2504943	hsa-miR-4701-5p	CLIP-seq
MIRT2201877	hsa-miR-4705	CLIP-seq
MIRT2504944	hsa-miR-4708-5p	CLIP-seq
MIRT2504945	hsa-miR-4716-5p	CLIP-seq
MIRT2504946	hsa-miR-4723-3p	CLIP-seq
MIRT2504947	hsa-miR-4735-3p	CLIP-seq
MIRT2504948	hsa-miR-4747-5p	CLIP-seq
MIRT2504949	hsa-miR-4769-5p	CLIP-seq
MIRT2504950	hsa-miR-4770	CLIP-seq
MIRT2201880	hsa-miR-483-3p	CLIP-seq
MIRT2504951	hsa-miR-491-3p	CLIP-seq
MIRT2504952	hsa-miR-501-3p	CLIP-seq
MIRT2504953	hsa-miR-502-3p	CLIP-seq
MIRT2201881	hsa-miR-508-5p	CLIP-seq
MIRT2504954	hsa-miR-544b	CLIP-seq
MIRT2504955	hsa-miR-548s	CLIP-seq
MIRT2504956	hsa-miR-550a	CLIP-seq
MIRT2504957	hsa-miR-569	CLIP-seq
MIRT2504958	hsa-miR-584	CLIP-seq
MIRT2504959	hsa-miR-588	CLIP-seq
MIRT2504960	hsa-miR-605	CLIP-seq
MIRT2504961	hsa-miR-632	CLIP-seq
MIRT2504962	hsa-miR-649	CLIP-seq
MIRT2504963	hsa-miR-767-5p	CLIP-seq
MIRT2504964	hsa-miR-889	CLIP-seq
MIRT2504899	hsa-miR-103a	CLIP-seq
MIRT2504900	hsa-miR-107	CLIP-seq
MIRT2504901	hsa-miR-1184	CLIP-seq
MIRT2504902	hsa-miR-1200	CLIP-seq
MIRT2504903	hsa-miR-1205	CLIP-seq
MIRT2678311	hsa-miR-1245	CLIP-seq
MIRT2504904	hsa-miR-1253	CLIP-seq
MIRT2504905	hsa-miR-1273f	CLIP-seq
MIRT2678312	hsa-miR-136	CLIP-seq
MIRT2504906	hsa-miR-143	CLIP-seq
MIRT2504907	hsa-miR-145	CLIP-seq
MIRT2504908	hsa-miR-146a	CLIP-seq
MIRT2504909	hsa-miR-146b-5p	CLIP-seq
MIRT2504910	hsa-miR-187	CLIP-seq
MIRT2504911	hsa-miR-18a	CLIP-seq
MIRT2504912	hsa-miR-18b	CLIP-seq
MIRT2678313	hsa-miR-190	CLIP-seq
MIRT2678314	hsa-miR-190b	CLIP-seq
MIRT2504913	hsa-miR-2053	CLIP-seq
MIRT2504914	hsa-miR-2277-3p	CLIP-seq
MIRT2504915	hsa-miR-3064-3p	CLIP-seq
MIRT2504916	hsa-miR-3074-5p	CLIP-seq
MIRT2504917	hsa-miR-3120-3p	CLIP-seq
MIRT2504918	hsa-miR-3158-5p	CLIP-seq
MIRT2504919	hsa-miR-3183	CLIP-seq
MIRT2504920	hsa-miR-3185	CLIP-seq
MIRT2504921	hsa-miR-3187-3p	CLIP-seq
MIRT2504922	hsa-miR-346	CLIP-seq
MIRT2201874	hsa-miR-34b	CLIP-seq
MIRT2678315	hsa-miR-3591-5p	CLIP-seq
MIRT2678316	hsa-miR-3606	CLIP-seq
MIRT2504923	hsa-miR-3615	CLIP-seq
MIRT2504924	hsa-miR-3909	CLIP-seq
MIRT2504925	hsa-miR-3917	CLIP-seq
MIRT2504926	hsa-miR-3925-3p	CLIP-seq
MIRT2504927	hsa-miR-3926	CLIP-seq
MIRT2504928	hsa-miR-4261	CLIP-seq
MIRT2504929	hsa-miR-4265	CLIP-seq
MIRT2504930	hsa-miR-4288	CLIP-seq
MIRT2504931	hsa-miR-4296	CLIP-seq
MIRT2504932	hsa-miR-4322	CLIP-seq
MIRT2504933	hsa-miR-4324	CLIP-seq
MIRT2504934	hsa-miR-4326	CLIP-seq
MIRT2504935	hsa-miR-4419a	CLIP-seq
MIRT2504936	hsa-miR-4435	CLIP-seq
MIRT2504937	hsa-miR-4496	CLIP-seq
MIRT2504938	hsa-miR-4510	CLIP-seq
MIRT2504939	hsa-miR-4517	CLIP-seq
MIRT2504940	hsa-miR-4648	CLIP-seq
MIRT2504941	hsa-miR-4654	CLIP-seq
MIRT2504942	hsa-miR-4700-3p	CLIP-seq
MIRT2504943	hsa-miR-4701-5p	CLIP-seq
MIRT2201877	hsa-miR-4705	CLIP-seq
MIRT2504944	hsa-miR-4708-5p	CLIP-seq
MIRT2504945	hsa-miR-4716-5p	CLIP-seq
MIRT2504946	hsa-miR-4723-3p	CLIP-seq
MIRT2504947	hsa-miR-4735-3p	CLIP-seq
MIRT2504948	hsa-miR-4747-5p	CLIP-seq
MIRT2504949	hsa-miR-4769-5p	CLIP-seq
MIRT2504950	hsa-miR-4770	CLIP-seq
MIRT2201880	hsa-miR-483-3p	CLIP-seq
MIRT2504951	hsa-miR-491-3p	CLIP-seq
MIRT2504952	hsa-miR-501-3p	CLIP-seq
MIRT2504953	hsa-miR-502-3p	CLIP-seq
MIRT2201881	hsa-miR-508-5p	CLIP-seq
MIRT2678317	hsa-miR-515-5p	CLIP-seq
MIRT2504954	hsa-miR-544b	CLIP-seq
MIRT2678318	hsa-miR-548b-3p	CLIP-seq
MIRT2504955	hsa-miR-548s	CLIP-seq
MIRT2504956	hsa-miR-550a	CLIP-seq
MIRT2504957	hsa-miR-569	CLIP-seq
MIRT2504958	hsa-miR-584	CLIP-seq
MIRT2504959	hsa-miR-588	CLIP-seq
MIRT2504960	hsa-miR-605	CLIP-seq
MIRT2504961	hsa-miR-632	CLIP-seq
MIRT2504962	hsa-miR-649	CLIP-seq
MIRT2504963	hsa-miR-767-5p	CLIP-seq
MIRT2504964	hsa-miR-889	CLIP-seq
MIRT2678319	hsa-miR-921	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12134079, 14699076, 22431521, 32296183
GO:0005537	Function	D-mannose binding	IDA	16399764
GO:0005764	Component	Lysosome	IDA	11971870, 19941651, 22431521, 37708259
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	12134079
GO:0005775	Component	Vacuolar lumen	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	12134079
GO:0005794	Component	Golgi apparatus	IDA	12134079
GO:0005829	Component	Cytosol	IEA
GO:0006465	Process	Signal peptide processing	IDA	20052765
GO:0007040	Process	Lysosome organization	IBA
GO:0007040	Process	Lysosome organization	IEA
GO:0007042	Process	Lysosomal lumen acidification	IMP	11722572
GO:0007420	Process	Brain development	IEP	10992246
GO:0007601	Process	Visual perception	IEA
GO:0016020	Component	Membrane	IDA	12134079, 28442266
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9662406
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IBA
GO:0022008	Process	Neurogenesis	IEP	10992246
GO:0030163	Process	Protein catabolic process	NAS	10740217
GO:0042147	Process	Retrograde transport, endosome to Golgi	IMP	22431521
GO:0042551	Process	Neuron maturation	NAS	10992246
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10992246
GO:0052816	Function	Long-chain fatty acyl-CoA hydrolase activity	IDA	35427157
GO:0052816	Function	Long-chain fatty acyl-CoA hydrolase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070085	Process	Glycosylation	IDA	16399764
GO:0160121	Function	Bis(monoacylglycero)phosphate synthase activity	IDA	37708259
GO:1904426	Process	Positive regulation of GTP binding	IMP	22431521

MIM	HGNC	e!Ensembl
608102	2076	ENSG00000102805

O75503

Protein name

Bis(monoacylglycero)phosphate synthase CLN5 (BMP synthase CLN5) (EC 2.3.1.-) (Ceroid-lipofuscinosis neuronal protein 5) (Protein CLN5) (Palmitoyl protein thioesterase CLN5) (EC 3.1.2.22) (S-depalmitoylase CLN5) [Cleaved into: Bis(monoacylglycero)phosphate

Protein function

[Bis(monoacylglycero)phosphate synthase CLN5, secreted form]: Catalyzes the synthesis of bis(monoacylglycero)phosphate (BMP) via transacylation of 2 molecules of lysophosphatidylglycerol (LPG) (PubMed:37708259). BMP also known as lysobisphosphat

PDB

6R99

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15014	CLN5	51 → 349	Ceroid-lipofuscinosis neuronal protein 5	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9662406}.

Sequence

MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRF
DFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAI
GFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGT
LVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFN
KLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLP
TKEFLLSLLQIFDAVIVHKQFYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL

Sequence length

358

Interactions

View interactions

	KEGG
	Lysosome

926

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Pathogenic	rs2154034622	RCV001814483
CLN5-related disorder	Pathogenic	rs546989392	RCV003927734
Neuronal ceroid lipofuscinosis	Pathogenic; Likely pathogenic	rs1271064370, rs2034242246, rs2154035107, rs2154035159, rs2154035166, rs386833968, rs587780315, rs2034349886, rs2154035111, rs2154035183, rs2154035204, rs2154034636, rs2154034716, rs2154035196, rs2154035131 View all (66 more)	RCV001381766 RCV001389542 RCV001389234 RCV001386240 RCV001383792 RCV001385483 RCV001036078 RCV001960560 RCV001939433 RCV001970142 RCV001963063 RCV002051530 RCV001926582 RCV002007442 RCV001994504 RCV001968769 RCV001949633 RCV001914211 RCV003647863 RCV000684967 RCV000689128 RCV000698933 RCV002512684 RCV001039257 RCV000468638 RCV002635835 RCV000989150 RCV000556663 RCV002828257 RCV002908504 RCV002877424 RCV002899282 RCV003012522 RCV003020738 RCV003029629 RCV003037953 RCV003044214 RCV002282043 RCV005102475 RCV003533863 RCV003779162 RCV003533899 RCV003534098 RCV003531673 RCV003531679 RCV003648098 RCV003648196 RCV003648274 RCV003648291 RCV003648418 RCV003648628 RCV003833240 RCV003114526 RCV003532090 RCV001850973 RCV003766127 RCV001858008 RCV001868156 RCV000632674 RCV000632695 RCV001861846 RCV001861806 RCV001855490 RCV002544673 RCV001049322 RCV001389657 RCV000803462 RCV000632714 RCV001527017 RCV001058589 RCV002265586 RCV000989151 RCV000690321 RCV000818212 RCV003531948 RCV001853062 RCV001390094 RCV001070707 RCV001064628 RCV001036090 RCV001217019 RCV001222281 RCV001243960
Neuronal ceroid lipofuscinosis 5	Likely pathogenic; Pathogenic	rs2034242246, rs2154035107, rs2154035159, rs386833968, rs2154035202, rs587780315, rs2034349886, rs2154035183, rs2154035204, rs2154034716, rs2034339711, rs386833969, rs104894385, rs104894386, rs121908292 View all (77 more)	RCV003469757 RCV001729913 RCV001729912 RCV001729909 RCV001580667 RCV000116757 RCV003471150 RCV005008298 RCV005008311 RCV004571628 RCV005008494 RCV000002673 RCV000002674 RCV000002676 RCV000002677 RCV000002678 RCV000002680 RCV002306665 RCV000169429 RCV002510732 RCV000613275 RCV004571810 RCV000210062 RCV003136483 RCV003338187 RCV003388909 RCV003388910 RCV003388911 RCV003388912 RCV003468468 RCV003468469 RCV003468470 RCV003468471 RCV003468473 RCV003468475 RCV003468476 RCV003468477 RCV003468478 RCV003468479 RCV004573228 RCV003993536 RCV004575663 RCV004575664 RCV004575665 RCV004577969 RCV000410812 RCV000409209 RCV000410399 RCV000409719 RCV000412162 RCV000411598 RCV000501228 RCV000984156 RCV000625737 RCV001729667 RCV000668838 RCV000674631 RCV000672807 RCV000664744 RCV000671450 RCV000672485 RCV000667867 RCV000674729 RCV000668417 RCV000674770 RCV000674313 RCV000670302 RCV000675014 RCV000761545 RCV000790375 RCV000049938 RCV000049939 RCV000049940 RCV000049941 RCV000049942 RCV000049945 RCV000049947 RCV000049949 RCV000049950 RCV000049951 RCV000049952 RCV000049955 RCV000049956 RCV000049957 RCV000049958 RCV000049959 RCV000049960 RCV001729791 RCV001336970 RCV001194250 RCV001729815 RCV001729819

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Intellectual disability	Uncertain significance	rs2034339472	RCV001251943
Lymphoma	Benign; Likely benign	rs9573974	RCV005893242
Melanoma	Benign; Likely benign	rs9573974	RCV005893244
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs138037471, rs7987664, rs1800209, rs36038805, rs41287036, rs9565308, rs77416795, rs34481987, rs587780896, rs202118652, rs146993892, rs376454715, rs144656959, rs9573974, rs700365 View all (13 more)	RCV000365818 RCV000305280 RCV000372934 RCV000259654 RCV000319549 RCV000271170 RCV000337559 RCV000312256 RCV000360042 RCV000405110 RCV000395302 RCV000306509 RCV000367115 RCV000374238 RCV000283336 RCV000378855 RCV000286703 RCV000396698 RCV000277190 RCV000332312 RCV000308848 RCV000312250 RCV000369306 RCV000340633 RCV000344084 RCV000347500 RCV000403374 RCV000276913
Pontocerebellar hypoplasia type 2D	Conflicting classifications of pathogenicity	rs1593910113	RCV003230275
Thymoma	Benign; Likely benign	rs9573974	RCV005893243
Thyroid cancer, nonmedullary, 1	Likely benign	rs34481987	RCV005921425
Uveal melanoma	Benign; Likely benign	rs9573974	RCV005893241

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	30037983, 35427157, 40037332
Ataxia	Associate	33507209
Brain Diseases	Associate	8661106
Cerebellar Diseases	Associate	33507209, 39525553
Ceroid lipofuscinosis neuronal 5	Associate	28468312, 30655561, 34680045, 35427157, 8661106
Ceroid Lipofuscinosis Neuronal 6	Associate	8644710
Cognition Disorders	Associate	28542837, 34680045
Cognitive Dysfunction	Associate	34680045
Death	Associate	33507209
Dizziness	Associate	33507209
Dystonia	Associate	39525553
Dystonic Disorders	Associate	39525553
Epilepsy	Associate	34680045
Fetal Growth Retardation	Stimulate	36430274
Heredodegenerative Disorders Nervous System	Associate	24058541
Laryngeal Neoplasms	Associate	36347825
Li Fraumeni Syndrome	Associate	31982899
Macular Degeneration	Associate	33507209
Neoplasms	Associate	32487141
Neuroaxonal Dystrophies	Associate	31982899
Neurodegenerative Diseases	Associate	35427157
Neurologic Manifestations	Associate	33507209, 34680045
Neuronal Ceroid Lipofuscinoses	Associate	19383612, 23464991, 24058541, 28468312, 28542837, 31982899, 33507209, 34680045, 35921411, 36368077, 38141358, 39525553, 7942847, 8661106
Retinal Dystrophies	Associate	33507209, 40384762
Seizures	Associate	28542837, 33507209
Vision Disorders	Associate	34680045
von Hippel Lindau Disease	Associate	32487141

CLN5 (CLN5 lysosomal BMP synthase)