SCAMP5 (secretory carrier membrane protein 5)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 192683
• Gene name: Secretory carrier membrane protein 5
• Gene symbol: SCAMP5
• Synonyms (NCBI Gene): -
• Chromosome: 15
• Chromosome location: 15q24.2

miRNA Show/Hide all (294)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036311	hsa-miR-1229-3p	CLASH	23622248
MIRT468788	hsa-miR-3154	PAR-CLIP	23592263
MIRT468787	hsa-miR-5584-5p	PAR-CLIP	23592263
MIRT468786	hsa-miR-5681a	PAR-CLIP	23592263
MIRT468784	hsa-miR-7515	PAR-CLIP	23592263
MIRT468785	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT141137	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT141126	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT141137	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT141243	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT141245	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT141244	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT141246	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT141125	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT141144	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT141127	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT141154	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT141126	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT468788	hsa-miR-3154	PAR-CLIP	23592263
MIRT468787	hsa-miR-5584-5p	PAR-CLIP	23592263
MIRT468786	hsa-miR-5681a	PAR-CLIP	23592263
MIRT468784	hsa-miR-7515	PAR-CLIP	23592263
MIRT468785	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT1328294	hsa-miR-1197	CLIP-seq
MIRT1328295	hsa-miR-1202	CLIP-seq
MIRT1328296	hsa-miR-1207-3p	CLIP-seq
MIRT1328297	hsa-miR-125a-5p	CLIP-seq
MIRT1328298	hsa-miR-125b	CLIP-seq
MIRT1328299	hsa-miR-1291	CLIP-seq
MIRT1328300	hsa-miR-1297	CLIP-seq
MIRT1328301	hsa-miR-150	CLIP-seq
MIRT1328302	hsa-miR-15a	CLIP-seq
MIRT1328303	hsa-miR-15b	CLIP-seq
MIRT1328304	hsa-miR-16	CLIP-seq
MIRT1328305	hsa-miR-1827	CLIP-seq
MIRT1328306	hsa-miR-195	CLIP-seq
MIRT1328307	hsa-miR-2110	CLIP-seq
MIRT1328308	hsa-miR-2467-3p	CLIP-seq
MIRT1328309	hsa-miR-26a	CLIP-seq
MIRT1328310	hsa-miR-26b	CLIP-seq
MIRT1328311	hsa-miR-296-5p	CLIP-seq
MIRT1328312	hsa-miR-3123	CLIP-seq
MIRT1328313	hsa-miR-3132	CLIP-seq
MIRT1328314	hsa-miR-3150a-3p	CLIP-seq
MIRT1328315	hsa-miR-3175	CLIP-seq
MIRT1328316	hsa-miR-3180-5p	CLIP-seq
MIRT1328317	hsa-miR-3184	CLIP-seq
MIRT1328318	hsa-miR-3186-5p	CLIP-seq
MIRT1328319	hsa-miR-3187-3p	CLIP-seq
MIRT1328320	hsa-miR-3194-5p	CLIP-seq
MIRT1328321	hsa-miR-326	CLIP-seq
MIRT1328322	hsa-miR-330-3p	CLIP-seq
MIRT1328323	hsa-miR-330-5p	CLIP-seq
MIRT1328324	hsa-miR-3619-3p	CLIP-seq
MIRT1328325	hsa-miR-3652	CLIP-seq
MIRT1328326	hsa-miR-371b-3p	CLIP-seq
MIRT1328327	hsa-miR-3972	CLIP-seq
MIRT1328328	hsa-miR-423-5p	CLIP-seq
MIRT1328329	hsa-miR-424	CLIP-seq
MIRT1328330	hsa-miR-4267	CLIP-seq
MIRT1328331	hsa-miR-4270	CLIP-seq
MIRT1328332	hsa-miR-4271	CLIP-seq
MIRT1328333	hsa-miR-4283	CLIP-seq
MIRT1328334	hsa-miR-4319	CLIP-seq
MIRT1328335	hsa-miR-4430	CLIP-seq
MIRT1328336	hsa-miR-4437	CLIP-seq
MIRT1328337	hsa-miR-4441	CLIP-seq
MIRT1328338	hsa-miR-4451	CLIP-seq
MIRT1328339	hsa-miR-4465	CLIP-seq
MIRT1328340	hsa-miR-4470	CLIP-seq
MIRT1328341	hsa-miR-4505	CLIP-seq
MIRT1328342	hsa-miR-4529-5p	CLIP-seq
MIRT1328343	hsa-miR-4667-5p	CLIP-seq
MIRT1328344	hsa-miR-4682	CLIP-seq
MIRT1328345	hsa-miR-4700-5p	CLIP-seq
MIRT1328346	hsa-miR-4715-3p	CLIP-seq
MIRT1328347	hsa-miR-4725-3p	CLIP-seq
MIRT1328348	hsa-miR-4731-5p	CLIP-seq
MIRT1328349	hsa-miR-4732-5p	CLIP-seq
MIRT1328350	hsa-miR-4733-3p	CLIP-seq
MIRT1328351	hsa-miR-4736	CLIP-seq
MIRT1328352	hsa-miR-4768-3p	CLIP-seq
MIRT1328353	hsa-miR-497	CLIP-seq
MIRT1328354	hsa-miR-503	CLIP-seq
MIRT1328355	hsa-miR-583	CLIP-seq
MIRT1328356	hsa-miR-635	CLIP-seq
MIRT1328357	hsa-miR-637	CLIP-seq
MIRT1328358	hsa-miR-665	CLIP-seq
MIRT1328359	hsa-miR-760	CLIP-seq
MIRT1328360	hsa-miR-873	CLIP-seq
MIRT1328361	hsa-miR-939	CLIP-seq
MIRT1328362	hsa-miR-940	CLIP-seq
MIRT1328295	hsa-miR-1202	CLIP-seq
MIRT1328296	hsa-miR-1207-3p	CLIP-seq
MIRT1328363	hsa-miR-1914	CLIP-seq
MIRT1328364	hsa-miR-1915	CLIP-seq
MIRT1328307	hsa-miR-2110	CLIP-seq
MIRT1328365	hsa-miR-218	CLIP-seq
MIRT1328366	hsa-miR-2355-5p	CLIP-seq
MIRT1328367	hsa-miR-24	CLIP-seq
MIRT1328368	hsa-miR-2861	CLIP-seq
MIRT1328369	hsa-miR-3169	CLIP-seq
MIRT1328370	hsa-miR-3179	CLIP-seq
MIRT1328320	hsa-miR-3194-5p	CLIP-seq
MIRT1328371	hsa-miR-3202	CLIP-seq
MIRT1328327	hsa-miR-3972	CLIP-seq
MIRT1328330	hsa-miR-4267	CLIP-seq
MIRT1328372	hsa-miR-4269	CLIP-seq
MIRT1328332	hsa-miR-4271	CLIP-seq
MIRT1328373	hsa-miR-4284	CLIP-seq
MIRT1328374	hsa-miR-4476	CLIP-seq
MIRT1328375	hsa-miR-4514	CLIP-seq
MIRT1328376	hsa-miR-4515	CLIP-seq
MIRT1328377	hsa-miR-4640-5p	CLIP-seq
MIRT1328378	hsa-miR-4660	CLIP-seq
MIRT1328343	hsa-miR-4667-5p	CLIP-seq
MIRT1328379	hsa-miR-4692	CLIP-seq
MIRT1328345	hsa-miR-4700-5p	CLIP-seq
MIRT1328347	hsa-miR-4725-3p	CLIP-seq
MIRT1328380	hsa-miR-4726-5p	CLIP-seq
MIRT1328348	hsa-miR-4731-5p	CLIP-seq
MIRT1328381	hsa-miR-4742-5p	CLIP-seq
MIRT1328382	hsa-miR-544	CLIP-seq
MIRT1328383	hsa-miR-636	CLIP-seq
MIRT1328384	hsa-miR-642b	CLIP-seq
MIRT2097441	hsa-miR-1266	CLIP-seq
MIRT1328299	hsa-miR-1291	CLIP-seq
MIRT1328364	hsa-miR-1915	CLIP-seq
MIRT2097442	hsa-miR-1972	CLIP-seq
MIRT1328367	hsa-miR-24	CLIP-seq
MIRT2097443	hsa-miR-3120-3p	CLIP-seq
MIRT2097444	hsa-miR-3136-3p	CLIP-seq
MIRT1328314	hsa-miR-3150a-3p	CLIP-seq
MIRT1328315	hsa-miR-3175	CLIP-seq
MIRT1328317	hsa-miR-3184	CLIP-seq
MIRT2097445	hsa-miR-331-3p	CLIP-seq
MIRT2097446	hsa-miR-3664-3p	CLIP-seq
MIRT1328328	hsa-miR-423-5p	CLIP-seq
MIRT2097447	hsa-miR-4257	CLIP-seq
MIRT2097448	hsa-miR-4292	CLIP-seq
MIRT1328336	hsa-miR-4437	CLIP-seq
MIRT2097449	hsa-miR-4499	CLIP-seq
MIRT2097450	hsa-miR-4518	CLIP-seq
MIRT2097451	hsa-miR-4633-5p	CLIP-seq
MIRT1328377	hsa-miR-4640-5p	CLIP-seq
MIRT2097452	hsa-miR-4650-5p	CLIP-seq
MIRT2097453	hsa-miR-4674	CLIP-seq
MIRT2097454	hsa-miR-4717-3p	CLIP-seq
MIRT2097455	hsa-miR-4726-3p	CLIP-seq
MIRT1328380	hsa-miR-4726-5p	CLIP-seq
MIRT2097456	hsa-miR-4766-5p	CLIP-seq
MIRT1328352	hsa-miR-4768-3p	CLIP-seq
MIRT2097457	hsa-miR-4771	CLIP-seq
MIRT2097458	hsa-miR-532-5p	CLIP-seq
MIRT2097459	hsa-miR-541	CLIP-seq
MIRT1328357	hsa-miR-637	CLIP-seq
MIRT2097460	hsa-miR-654-5p	CLIP-seq
MIRT2097461	hsa-miR-7	CLIP-seq
MIRT1328359	hsa-miR-760	CLIP-seq
MIRT1328302	hsa-miR-15a	CLIP-seq
MIRT1328303	hsa-miR-15b	CLIP-seq
MIRT1328304	hsa-miR-16	CLIP-seq
MIRT1328364	hsa-miR-1915	CLIP-seq
MIRT1328306	hsa-miR-195	CLIP-seq
MIRT2321725	hsa-miR-29a	CLIP-seq
MIRT2321726	hsa-miR-29b	CLIP-seq
MIRT2321727	hsa-miR-29c	CLIP-seq
MIRT2321728	hsa-miR-3127-3p	CLIP-seq
MIRT1328329	hsa-miR-424	CLIP-seq
MIRT1328330	hsa-miR-4267	CLIP-seq
MIRT1328331	hsa-miR-4270	CLIP-seq
MIRT1328337	hsa-miR-4441	CLIP-seq
MIRT1328343	hsa-miR-4667-5p	CLIP-seq
MIRT1328345	hsa-miR-4700-5p	CLIP-seq
MIRT1328353	hsa-miR-497	CLIP-seq
MIRT1328357	hsa-miR-637	CLIP-seq
MIRT2321729	hsa-miR-769-5p	CLIP-seq
MIRT1328352	hsa-miR-4768-3p	CLIP-seq
MIRT2097445	hsa-miR-331-3p	CLIP-seq
MIRT2097451	hsa-miR-4633-5p	CLIP-seq
MIRT2097458	hsa-miR-532-5p	CLIP-seq
MIRT1328382	hsa-miR-544	CLIP-seq
MIRT1328295	hsa-miR-1202	CLIP-seq
MIRT1328296	hsa-miR-1207-3p	CLIP-seq
MIRT2618136	hsa-miR-1224-5p	CLIP-seq
MIRT2618137	hsa-miR-1262	CLIP-seq
MIRT2097441	hsa-miR-1266	CLIP-seq
MIRT2618138	hsa-miR-1275	CLIP-seq
MIRT2618139	hsa-miR-1321	CLIP-seq
MIRT1328301	hsa-miR-150	CLIP-seq
MIRT1328302	hsa-miR-15a	CLIP-seq
MIRT1328303	hsa-miR-15b	CLIP-seq
MIRT1328304	hsa-miR-16	CLIP-seq
MIRT1328305	hsa-miR-1827	CLIP-seq
MIRT1328306	hsa-miR-195	CLIP-seq
MIRT2618140	hsa-miR-1976	CLIP-seq
MIRT1328307	hsa-miR-2110	CLIP-seq
MIRT1328367	hsa-miR-24	CLIP-seq
MIRT2618141	hsa-miR-2682	CLIP-seq
MIRT2097443	hsa-miR-3120-3p	CLIP-seq
MIRT2618142	hsa-miR-3140-5p	CLIP-seq
MIRT1328314	hsa-miR-3150a-3p	CLIP-seq
MIRT2618143	hsa-miR-3162-5p	CLIP-seq
MIRT1328315	hsa-miR-3175	CLIP-seq
MIRT1328320	hsa-miR-3194-5p	CLIP-seq
MIRT1328322	hsa-miR-330-3p	CLIP-seq
MIRT2618144	hsa-miR-335	CLIP-seq
MIRT2618145	hsa-miR-338-3p	CLIP-seq
MIRT2618146	hsa-miR-3612	CLIP-seq
MIRT2618147	hsa-miR-3622b-5p	CLIP-seq
MIRT2618148	hsa-miR-3649	CLIP-seq
MIRT2618149	hsa-miR-3660	CLIP-seq
MIRT2618150	hsa-miR-3661	CLIP-seq
MIRT2618151	hsa-miR-3714	CLIP-seq
MIRT1328327	hsa-miR-3972	CLIP-seq
MIRT1328329	hsa-miR-424	CLIP-seq
MIRT2618152	hsa-miR-4253	CLIP-seq
MIRT1328330	hsa-miR-4267	CLIP-seq
MIRT2618153	hsa-miR-4268	CLIP-seq
MIRT1328372	hsa-miR-4269	CLIP-seq
MIRT1328331	hsa-miR-4270	CLIP-seq
MIRT1328332	hsa-miR-4271	CLIP-seq
MIRT1328373	hsa-miR-4284	CLIP-seq
MIRT2618154	hsa-miR-4290	CLIP-seq
MIRT2618155	hsa-miR-4323	CLIP-seq
MIRT1328337	hsa-miR-4441	CLIP-seq
MIRT2618156	hsa-miR-4447	CLIP-seq
MIRT1328340	hsa-miR-4470	CLIP-seq
MIRT2618157	hsa-miR-4472	CLIP-seq
MIRT2618158	hsa-miR-4488	CLIP-seq
MIRT2618159	hsa-miR-449c	CLIP-seq
MIRT1328375	hsa-miR-4514	CLIP-seq
MIRT2097450	hsa-miR-4518	CLIP-seq
MIRT2618160	hsa-miR-4525	CLIP-seq
MIRT2618161	hsa-miR-4526	CLIP-seq
MIRT2618162	hsa-miR-4536	CLIP-seq
MIRT2618163	hsa-miR-4639-3p	CLIP-seq
MIRT1328378	hsa-miR-4660	CLIP-seq
MIRT2618164	hsa-miR-4665-5p	CLIP-seq
MIRT1328343	hsa-miR-4667-5p	CLIP-seq
MIRT1328379	hsa-miR-4692	CLIP-seq
MIRT2618165	hsa-miR-4695-5p	CLIP-seq
MIRT2618166	hsa-miR-4697-5p	CLIP-seq
MIRT1328345	hsa-miR-4700-5p	CLIP-seq
MIRT2618167	hsa-miR-4701-3p	CLIP-seq
MIRT2618168	hsa-miR-4710	CLIP-seq
MIRT2097454	hsa-miR-4717-3p	CLIP-seq
MIRT2618169	hsa-miR-4723-5p	CLIP-seq
MIRT1328347	hsa-miR-4725-3p	CLIP-seq
MIRT1328348	hsa-miR-4731-5p	CLIP-seq
MIRT1328350	hsa-miR-4733-3p	CLIP-seq
MIRT2618170	hsa-miR-4739	CLIP-seq
MIRT1328381	hsa-miR-4742-5p	CLIP-seq
MIRT2618171	hsa-miR-4747-5p	CLIP-seq
MIRT2618172	hsa-miR-4751	CLIP-seq
MIRT2618173	hsa-miR-4753-5p	CLIP-seq
MIRT2618174	hsa-miR-4756-5p	CLIP-seq
MIRT2618175	hsa-miR-4758-3p	CLIP-seq
MIRT2097456	hsa-miR-4766-5p	CLIP-seq
MIRT1328352	hsa-miR-4768-3p	CLIP-seq
MIRT2618176	hsa-miR-4773	CLIP-seq
MIRT2618177	hsa-miR-4796-3p	CLIP-seq
MIRT1328353	hsa-miR-497	CLIP-seq
MIRT1328354	hsa-miR-503	CLIP-seq
MIRT2097459	hsa-miR-541	CLIP-seq
MIRT2618178	hsa-miR-548aa	CLIP-seq
MIRT2618179	hsa-miR-549	CLIP-seq
MIRT2618180	hsa-miR-550a	CLIP-seq
MIRT2618181	hsa-miR-591	CLIP-seq
MIRT2618182	hsa-miR-615-5p	CLIP-seq
MIRT2618183	hsa-miR-625	CLIP-seq
MIRT2618184	hsa-miR-631	CLIP-seq
MIRT1328357	hsa-miR-637	CLIP-seq
MIRT1328384	hsa-miR-642b	CLIP-seq
MIRT2618185	hsa-miR-650	CLIP-seq
MIRT2097460	hsa-miR-654-5p	CLIP-seq
MIRT1328358	hsa-miR-665	CLIP-seq
MIRT2618186	hsa-miR-765	CLIP-seq
MIRT2618187	hsa-miR-766	CLIP-seq
MIRT2618188	hsa-miR-767-3p	CLIP-seq
MIRT1328361	hsa-miR-939	CLIP-seq
MIRT2618138	hsa-miR-1275	CLIP-seq
MIRT2618144	hsa-miR-335	CLIP-seq
MIRT1328330	hsa-miR-4267	CLIP-seq
MIRT1328332	hsa-miR-4271	CLIP-seq
MIRT2618156	hsa-miR-4447	CLIP-seq
MIRT2618157	hsa-miR-4472	CLIP-seq
MIRT2618160	hsa-miR-4525	CLIP-seq
MIRT2618164	hsa-miR-4665-5p	CLIP-seq
MIRT2618169	hsa-miR-4723-5p	CLIP-seq
MIRT1328347	hsa-miR-4725-3p	CLIP-seq
MIRT2618171	hsa-miR-4747-5p	CLIP-seq
MIRT2618173	hsa-miR-4753-5p	CLIP-seq
MIRT2618183	hsa-miR-625	CLIP-seq

Gene ontology (GO) Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	19234194
GO:0000139	Component	Golgi membrane	IEA
GO:0001819	Process	Positive regulation of cytokine production	IDA	19234194
GO:0005515	Function	Protein binding	IPI	15840657, 19234194, 32296183
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	19234194
GO:0005886	Component	Plasma membrane	IEA
GO:0006887	Process	Exocytosis	IBA
GO:0006887	Process	Exocytosis	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IDA	19234194
GO:0016020	Component	Membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032588	Component	Trans-Golgi network membrane	IBA
GO:0032588	Component	Trans-Golgi network membrane	IDA	15840657
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	19240033
GO:0044877	Function	Protein-containing complex binding	IDA	19234194
GO:0045202	Component	Synapse	IEA
GO:0045806	Process	Negative regulation of endocytosis	IDA	19240033
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IDA	19234194
GO:0055038	Component	Recycling endosome membrane	IBA
GO:0055038	Component	Recycling endosome membrane	IDA	15840657
GO:0055038	Component	Recycling endosome membrane	IEA

Other IDs

• MIM: 613766
• HGNC: 30386
• e!Ensembl: ENSG00000198794

Protein

• UniProt ID: Q8TAC9
• Protein name: Secretory carrier-associated membrane protein 5 (Secretory carrier membrane protein 5) (hSCAMP5)
• Protein function: Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5. Probably acts in cooperation with the SNARE machinery. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04144	SCAMP	5 → 179	SCAMP family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed both by neuronal and non-neuronal tissues. Expressed in brain, stomach, thyroid, spinal cord, lymph node, trachea, adrenal gland, bone marrow and in the different parts of brain. In thyroid tissues, it is expressed by the fol
• Sequence:

  MAEKVNNFPPLPKFIPLKPCFYQDFEADIPPQHVSMTKRLYYLWMLNSVTLAVNLVGCLA
  WLIGGGGATNFGLAFLWLILFTPCSYVCWFRPIYKAFKTDSSFSFMAFFFTFMAQLVISI
  IQAVGIPGWGVCGWIATISFFGTNIGSAVVMLIPTVMFTVMAVFSFIALSMVHKFYRGSG
  GSFSKAQEEWTTGAWKNPHVQQAAQNAAMGAAQGAMNQPQTQYSATPNYTYSNEM

• Sequence length: 235

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)

Unknown / Other Associations Show/Hide Unknown Diseases (14)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	20071347	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	36428691	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	CTD	11050114, 29562188, 31439720, 33390987	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet, GenCC Disgenet, GenCC	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	33390987,32020363,20071347,31439720	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly-developmental delay syndrome	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar CTD	31439720, 33390987	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	37247657	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCAMP5-related disorder	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCAMP5-related neurodevelopmental and movement disorder	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCAMP5-related neurodevelopmental disorder with autistic features and seizures	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	26502338, 27399966	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (21)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	37389974	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	38057311	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	20071347		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	29562188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	29562188	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	34426610	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	29562188	Inhibit	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37389974	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	40184123	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	20071347		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	BEFREE	28700687		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	37389974	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	20071347		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31439720		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34426610	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34728555	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26502338, 27399966		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31439720		★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	29562188	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33493138	Inhibit	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37389974	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ACMSD 1 shared diseaseEpilepsy 2 shared evidence sourcesDisgenet (Epilepsy), GenCC (Epilepsy) Related via 1 shared disease including Epilepsy — evidence mostly Disgenet. PLEKHG2 1 shared diseaseEpilepsy 2 shared evidence sourcesDisgenet (Epilepsy), GenCC (Epilepsy) Related via 1 shared disease including Epilepsy — evidence mostly Disgenet. SLITRK3 1 shared diseaseEpilepsy 2 shared evidence sourcesDisgenet (Epilepsy), GenCC (Epilepsy) Related via 1 shared disease including Epilepsy — evidence mostly Disgenet. SV2A 1 shared diseaseEpilepsy 2 shared evidence sourcesDisgenet (Epilepsy), GenCC (Epilepsy) Related via 1 shared disease including Epilepsy — evidence mostly Disgenet. APBA2 1 shared diseaseEpilepsy 2 shared evidence sourcesDisgenet (Epilepsy), GenCC (Epilepsy) Related via 1 shared disease including Epilepsy — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ACMSD	1	["Epilepsy"]	0	[]	2	["Disgenet (Epilepsy)","GenCC (Epilepsy)"]
PLEKHG2	1	["Epilepsy"]	0	[]	2	["Disgenet (Epilepsy)","GenCC (Epilepsy)"]
SLITRK3	1	["Epilepsy"]	0	[]	2	["Disgenet (Epilepsy)","GenCC (Epilepsy)"]
SV2A	1	["Epilepsy"]	0	[]	2	["Disgenet (Epilepsy)","GenCC (Epilepsy)"]
APBA2	1	["Epilepsy"]	0	[]	2	["Disgenet (Epilepsy)","GenCC (Epilepsy)"]

Diseases Linked via Similar Genes

Schizophrenia Linked via 2 of 5 related genesSV2A, APBA2 Alzheimer disease Linked via 1 of 5 related genesACMSD Asthma Linked via 1 of 5 related genesACMSD Obesity Linked via 1 of 5 related genesACMSD Jarcho-levin syndrome Linked via 1 of 5 related genesPLEKHG2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Schizophrenia	2	["SV2A","APBA2"]
Alzheimer disease	1	["ACMSD"]
Asthma	1	["ACMSD"]
Obesity	1	["ACMSD"]
Jarcho-levin syndrome	1	["PLEKHG2"]