CLN5 (CLN5 lysosomal BMP synthase)

Gene

• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 608102
• HGNC: 2076
• e!Ensembl: ENSG00000102805

Protein

• UniProt ID: 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

Pathways

KEGG:

Lysosome

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Pathogenic	rs2154034622	RCV001814483	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CLN5-related disorder	Pathogenic	rs546989392	RCV003927734	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronal ceroid lipofuscinosis	Pathogenic; Likely pathogenic	rs1271064370, rs2034242246, rs2154035107, rs2154035159, rs2154035166, rs386833968, rs587780315, rs2034349886, rs2154035111, rs2154035183, rs2154035204, rs2154034636, rs2154034716, rs2154035196, rs2154035131, rs2154034211, rs2154034292, rs763980789, rs2034339711, rs386833969, rs104894385, rs104894386, rs121908292, rs267606738, rs786204644, rs2501136089, rs794729218, rs546989392, rs2501155992, rs2501139084, rs778480440, rs2034350473, rs2501156184, rs2501154926, rs2501155146, rs1290682648, rs869312751, rs1280128886, rs2501139942, rs1739482158, rs2501157791, rs2501135233, rs2501156038, rs2501124926, rs2501154632, rs2501155018, rs2501157103, rs2501155694, rs2501140759, rs2501140045, rs2034257020, rs1057517134, rs1057516390, rs764495616, rs750935331, rs200348035, rs1555274338, rs1555273604, rs1555273881, rs1555274343, rs1555274365, rs1555274344, rs1555274373, rs1555273992, rs386833964, rs386833966, rs386833967, rs386833970, rs386833971, rs386833972, rs386833975, rs386833979, rs386833980, rs386833981, rs386833982, rs386833983, rs1242337070, rs2034349431, rs2034190303, rs2034346369, rs768449493	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronal ceroid lipofuscinosis 5	Likely pathogenic; Pathogenic	rs2034242246, rs2154035107, rs2154035159, rs386833968, rs2154035202, rs587780315, rs2034349886, rs2154035183, rs2154035204, rs2154034716, rs2034339711, rs386833969, rs104894385, rs104894386, rs121908292, rs267606738, rs1555274312, rs2501136073, rs786204644, rs2501124074, rs546989392, rs2501139084, rs869312751, rs2501155081, rs2501124491, rs2501139368, rs762787810, rs2501140694, rs1309552809, rs2501155560, rs763980789, rs2501139315, rs2501140321, rs2501139693, rs2501124958, rs2501139942, rs1304421147, rs1739482158, rs2501135864, rs2501140045, rs755238050, rs2501157687, rs2501154781, rs2501155185, rs2501136096, rs1057516814, rs780198002, rs1057517134, rs1057516390, rs764495616, rs750935331, rs1555274005, rs200348035, rs1555274338, rs1555273881, rs764790770, rs1555274343, rs1555274369, rs1555273567, rs1555274365, rs1555273609, rs1555274344, rs1555274373, rs1555274387, rs1555273882, rs1555273992, rs1555274014, rs1555274337, rs1566219136, rs1593914689, rs386833963, rs386833964, rs386833965, rs386833966, rs386833967, rs386833970, rs386833971, rs386833972, rs386833973, rs386833974, rs386833975, rs386833978, rs386833979, rs386833980, rs386833981, rs386833982, rs386833983, rs1242337070, rs2034349431, rs2034241585, rs2034190303, rs768449493	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CEROID LIPOFUSCINOSIS, NEURONAL 5	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 5	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID-LIPOFUSCINOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar hypoplasia type 2D	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	30037983, 35427157, 40037332	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	33507209	Associate	★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	15459177, 30136763		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	8661106	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	33507209, 39525553	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	15459177, 30136763		★☆☆☆☆ Found in Text Mining only
Ceroid lipofuscinosis neuronal 5	Neuronal ceroid lipofuscinosis	Pubtator	28468312, 30655561, 34680045, 35427157, 8661106	Associate	★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis Neuronal 6	Neuronal ceroid lipofuscinosis	Pubtator	8644710	Associate	★☆☆☆☆ Found in Text Mining only
CEROID LIPOFUSCINOSIS, NEURONAL, 5	Neuronal ceroid lipofuscinosis	CLINVAR_DG	10953198, 12134079, 18684116, 20052765, 20157158, 21990111, 22532218, 22727047, 23160995, 23374165, 24038957, 24058541, 26342652, 9662406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 5	Neuronal ceroid lipofuscinosis	UNIPROT_DG	15728307, 16814585, 17607606, 19309691, 20052765, 21990111, 24038957, 24058541, 26342652, 9662406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 5	Neuronal ceroid lipofuscinosis	BEFREE	20052765, 28442266, 28468312, 28487519, 29128403, 30655561, 31294445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 5	Neuronal ceroid lipofuscinosis	ORPHANET_DG	21990111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 5	Neuronal ceroid lipofuscinosis	GENOMICS_ENGLAND_DG	27604308, 9662406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 5	Neuronal ceroid lipofuscinosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 6	Neuronal ceroid lipofuscinosis	BEFREE	20052765		★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis, Neuronal, 7	Neuronal ceroid lipofuscinosis	BEFREE	29514215		★☆☆☆☆ Found in Text Mining only
CEROID LIPOFUSCINOSIS, NEURONAL, 8	Neuronal ceroid lipofuscinosis	BEFREE	11332769		★☆☆☆☆ Found in Text Mining only
CLN5 disease	Neuronal Ceroid Lipofuscinosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	28542837, 34680045	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	34680045	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	39525553	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	39525553	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	17607606		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34680045	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	17607606		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	11579433, 17607606, 25724202, 30048658, 30078766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lafora Disease	Lafora Disease	BEFREE	11579433		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36347825	Associate	★☆☆☆☆ Found in Text Mining only
Late-Infantile Neuronal Ceroid Lipfuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	10419622, 20157158, 9100667, 9662406		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	33507209	Associate	★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	11579433		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35427157	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	12125809, 15459177, 24038957, 25359263, 28733362, 30048658		★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	10446748, 10992246, 11085596, 11971870, 12134079, 12169332, 15728307, 19383612, 20157158, 21447811, 22964447, 24038957, 26342652, 28442266, 28468312, 28487519, 28542837, 29128403, 29514215, 30048658, 30264640, 30655561, 31101435, 8803767, 8969009		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	CLINVAR_DG	11971870, 12134079, 19201763, 20052765, 20157158, 20960652, 21990111, 22532218, 23374165, 24038957, 24058541, 26342652, 9662406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	LHGDN	12125809, 12134079, 15728307		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Northern epilepsy syndrome	Northern epilepsy syndrome	BEFREE	11332769		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	28542837, 33507209	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	34680045	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations