TBC1D14 (TBC1 domain family member 14)

Gene

• Entrez ID: 57533
• Gene name: TBC1 domain family member 14
• Gene symbol: TBC1D14
• Synonyms (NCBI Gene): -
• Chromosome: 4
• Chromosome location: 4p16.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020787	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT044844	hsa-miR-320a	CLASH	23622248
MIRT020787	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT020787	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT726372	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT726371	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT726369	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT726370	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT1412236	hsa-miR-1207-5p	CLIP-seq
MIRT1412237	hsa-miR-122	CLIP-seq
MIRT1412238	hsa-miR-124	CLIP-seq
MIRT1412239	hsa-miR-1253	CLIP-seq
MIRT1412240	hsa-miR-151-3p	CLIP-seq
MIRT1412241	hsa-miR-198	CLIP-seq
MIRT1412242	hsa-miR-2467-3p	CLIP-seq
MIRT1412243	hsa-miR-3154	CLIP-seq
MIRT1412244	hsa-miR-3166	CLIP-seq
MIRT1412245	hsa-miR-3184	CLIP-seq
MIRT1412246	hsa-miR-3187-3p	CLIP-seq
MIRT1412247	hsa-miR-3607-5p	CLIP-seq
MIRT1412248	hsa-miR-3611	CLIP-seq
MIRT1412249	hsa-miR-3616-5p	CLIP-seq
MIRT1412250	hsa-miR-3647-5p	CLIP-seq
MIRT1412251	hsa-miR-3648	CLIP-seq
MIRT1412252	hsa-miR-3663-3p	CLIP-seq
MIRT1412253	hsa-miR-3677-5p	CLIP-seq
MIRT1412254	hsa-miR-3678-3p	CLIP-seq
MIRT1412255	hsa-miR-3919	CLIP-seq
MIRT1412256	hsa-miR-3925-5p	CLIP-seq
MIRT1412257	hsa-miR-3944-5p	CLIP-seq
MIRT1412258	hsa-miR-423-5p	CLIP-seq
MIRT1412259	hsa-miR-4251	CLIP-seq
MIRT1412260	hsa-miR-4304	CLIP-seq
MIRT1412261	hsa-miR-4463	CLIP-seq
MIRT1412262	hsa-miR-4474-3p	CLIP-seq
MIRT1412263	hsa-miR-4499	CLIP-seq
MIRT1412264	hsa-miR-4529-5p	CLIP-seq
MIRT1412265	hsa-miR-4643	CLIP-seq
MIRT1412266	hsa-miR-4651	CLIP-seq
MIRT1412267	hsa-miR-4677-3p	CLIP-seq
MIRT1412268	hsa-miR-4693-3p	CLIP-seq
MIRT1412269	hsa-miR-4736	CLIP-seq
MIRT1412270	hsa-miR-4747-5p	CLIP-seq
MIRT1412271	hsa-miR-4763-3p	CLIP-seq
MIRT1412272	hsa-miR-4766-5p	CLIP-seq
MIRT1412273	hsa-miR-4771	CLIP-seq
MIRT1412274	hsa-miR-4795-5p	CLIP-seq
MIRT1412275	hsa-miR-494	CLIP-seq
MIRT1412276	hsa-miR-506	CLIP-seq
MIRT1412277	hsa-miR-516b	CLIP-seq
MIRT1412278	hsa-miR-520a-5p	CLIP-seq
MIRT1412279	hsa-miR-525-5p	CLIP-seq
MIRT1412280	hsa-miR-553	CLIP-seq
MIRT1412281	hsa-miR-573	CLIP-seq
MIRT1412282	hsa-miR-574-5p	CLIP-seq
MIRT1412283	hsa-miR-579	CLIP-seq
MIRT1412284	hsa-miR-595	CLIP-seq
MIRT1412285	hsa-miR-608	CLIP-seq
MIRT1412286	hsa-miR-622	CLIP-seq
MIRT1412287	hsa-miR-644	CLIP-seq
MIRT1412288	hsa-miR-648	CLIP-seq
MIRT1412289	hsa-miR-95	CLIP-seq
MIRT1412290	hsa-miR-103a	CLIP-seq
MIRT1412291	hsa-miR-107	CLIP-seq
MIRT1412292	hsa-miR-1226	CLIP-seq
MIRT1412293	hsa-miR-197	CLIP-seq
MIRT1412294	hsa-miR-219-5p	CLIP-seq
MIRT1412295	hsa-miR-3178	CLIP-seq
MIRT1412296	hsa-miR-3183	CLIP-seq
MIRT1412297	hsa-miR-3929	CLIP-seq
MIRT1412257	hsa-miR-3944-5p	CLIP-seq
MIRT1412298	hsa-miR-3977	CLIP-seq
MIRT1412299	hsa-miR-412	CLIP-seq
MIRT1412300	hsa-miR-4419b	CLIP-seq
MIRT1412301	hsa-miR-4446-3p	CLIP-seq
MIRT1412302	hsa-miR-4478	CLIP-seq
MIRT1412303	hsa-miR-4486	CLIP-seq
MIRT1412304	hsa-miR-4492	CLIP-seq
MIRT1412305	hsa-miR-4498	CLIP-seq
MIRT1412306	hsa-miR-4505	CLIP-seq
MIRT1412307	hsa-miR-4687-3p	CLIP-seq
MIRT1412308	hsa-miR-4723-3p	CLIP-seq
MIRT1412309	hsa-miR-4733-3p	CLIP-seq
MIRT1412310	hsa-miR-4738-3p	CLIP-seq
MIRT1412311	hsa-miR-4782-3p	CLIP-seq
MIRT1412312	hsa-miR-645	CLIP-seq
MIRT1412313	hsa-miR-762	CLIP-seq
MIRT1412314	hsa-miR-873	CLIP-seq
MIRT1412315	hsa-miR-922	CLIP-seq
MIRT1412316	hsa-miR-105	CLIP-seq
MIRT1412236	hsa-miR-1207-5p	CLIP-seq
MIRT1412237	hsa-miR-122	CLIP-seq
MIRT1412317	hsa-miR-1237	CLIP-seq
MIRT1412238	hsa-miR-124	CLIP-seq
MIRT1412239	hsa-miR-1253	CLIP-seq
MIRT1412318	hsa-miR-1294	CLIP-seq
MIRT1412319	hsa-miR-1825	CLIP-seq
MIRT1412320	hsa-miR-185	CLIP-seq
MIRT1412321	hsa-miR-1915	CLIP-seq
MIRT1412241	hsa-miR-198	CLIP-seq
MIRT1412322	hsa-miR-199a-5p	CLIP-seq
MIRT1412323	hsa-miR-199b-5p	CLIP-seq
MIRT1412324	hsa-miR-2052	CLIP-seq
MIRT1412325	hsa-miR-2355-5p	CLIP-seq
MIRT1412242	hsa-miR-2467-3p	CLIP-seq
MIRT1412326	hsa-miR-3121-5p	CLIP-seq
MIRT1412327	hsa-miR-3126-3p	CLIP-seq
MIRT1412328	hsa-miR-3126-5p	CLIP-seq
MIRT1412243	hsa-miR-3154	CLIP-seq
MIRT1412295	hsa-miR-3178	CLIP-seq
MIRT1412329	hsa-miR-3182	CLIP-seq
MIRT1412330	hsa-miR-3613-3p	CLIP-seq
MIRT1412251	hsa-miR-3648	CLIP-seq
MIRT1412252	hsa-miR-3663-3p	CLIP-seq
MIRT1412331	hsa-miR-3667-3p	CLIP-seq
MIRT1412332	hsa-miR-3669	CLIP-seq
MIRT1412254	hsa-miR-3678-3p	CLIP-seq
MIRT1412333	hsa-miR-3680	CLIP-seq
MIRT1412334	hsa-miR-3686	CLIP-seq
MIRT1412255	hsa-miR-3919	CLIP-seq
MIRT1412335	hsa-miR-3925-3p	CLIP-seq
MIRT1412256	hsa-miR-3925-5p	CLIP-seq
MIRT1412259	hsa-miR-4251	CLIP-seq
MIRT1412336	hsa-miR-4306	CLIP-seq
MIRT1412337	hsa-miR-4316	CLIP-seq
MIRT1412338	hsa-miR-4419a	CLIP-seq
MIRT1412301	hsa-miR-4446-3p	CLIP-seq
MIRT1412339	hsa-miR-4468	CLIP-seq
MIRT1412340	hsa-miR-4473	CLIP-seq
MIRT1412262	hsa-miR-4474-3p	CLIP-seq
MIRT1412341	hsa-miR-4477b	CLIP-seq
MIRT1412303	hsa-miR-4486	CLIP-seq
MIRT1412304	hsa-miR-4492	CLIP-seq
MIRT1412305	hsa-miR-4498	CLIP-seq
MIRT1412263	hsa-miR-4499	CLIP-seq
MIRT1412306	hsa-miR-4505	CLIP-seq
MIRT1412342	hsa-miR-4509	CLIP-seq
MIRT1412343	hsa-miR-4510	CLIP-seq
MIRT1412344	hsa-miR-4539	CLIP-seq
MIRT1412265	hsa-miR-4643	CLIP-seq
MIRT1412345	hsa-miR-4644	CLIP-seq
MIRT1412346	hsa-miR-4660	CLIP-seq
MIRT1412307	hsa-miR-4687-3p	CLIP-seq
MIRT1412347	hsa-miR-4688	CLIP-seq
MIRT1412348	hsa-miR-4699-3p	CLIP-seq
MIRT1412349	hsa-miR-4713-3p	CLIP-seq
MIRT1412269	hsa-miR-4736	CLIP-seq
MIRT1412310	hsa-miR-4738-3p	CLIP-seq
MIRT1412350	hsa-miR-4744	CLIP-seq
MIRT1412270	hsa-miR-4747-5p	CLIP-seq
MIRT1412351	hsa-miR-4753-5p	CLIP-seq
MIRT1412271	hsa-miR-4763-3p	CLIP-seq
MIRT1412352	hsa-miR-4793-5p	CLIP-seq
MIRT1412353	hsa-miR-4799-5p	CLIP-seq
MIRT1412276	hsa-miR-506	CLIP-seq
MIRT1412354	hsa-miR-508-5p	CLIP-seq
MIRT1412355	hsa-miR-512-3p	CLIP-seq
MIRT1412277	hsa-miR-516b	CLIP-seq
MIRT1412278	hsa-miR-520a-5p	CLIP-seq
MIRT1412356	hsa-miR-520f	CLIP-seq
MIRT1412279	hsa-miR-525-5p	CLIP-seq
MIRT1412357	hsa-miR-548a-3p	CLIP-seq
MIRT1412358	hsa-miR-548ae	CLIP-seq
MIRT1412359	hsa-miR-548aj	CLIP-seq
MIRT1412360	hsa-miR-548am	CLIP-seq
MIRT1412361	hsa-miR-548e	CLIP-seq
MIRT1412362	hsa-miR-548f	CLIP-seq
MIRT1412363	hsa-miR-548x	CLIP-seq
MIRT1412284	hsa-miR-595	CLIP-seq
MIRT1412364	hsa-miR-603	CLIP-seq
MIRT1412287	hsa-miR-644	CLIP-seq
MIRT1412365	hsa-miR-646	CLIP-seq
MIRT1412313	hsa-miR-762	CLIP-seq
MIRT1412314	hsa-miR-873	CLIP-seq
MIRT1412290	hsa-miR-103a	CLIP-seq
MIRT1412291	hsa-miR-107	CLIP-seq
MIRT1412237	hsa-miR-122	CLIP-seq
MIRT2123821	hsa-miR-1225-3p	CLIP-seq
MIRT2123822	hsa-miR-1291	CLIP-seq
MIRT1412240	hsa-miR-151-3p	CLIP-seq
MIRT2123823	hsa-miR-1827	CLIP-seq
MIRT2123824	hsa-miR-3064-5p	CLIP-seq
MIRT2123825	hsa-miR-3173-5p	CLIP-seq
MIRT2123826	hsa-miR-3176	CLIP-seq
MIRT2123827	hsa-miR-3180-5p	CLIP-seq
MIRT1412246	hsa-miR-3187-3p	CLIP-seq
MIRT2123828	hsa-miR-3545-5p	CLIP-seq
MIRT2123829	hsa-miR-3652	CLIP-seq
MIRT1412255	hsa-miR-3919	CLIP-seq
MIRT2123830	hsa-miR-3922-3p	CLIP-seq
MIRT1412257	hsa-miR-3944-5p	CLIP-seq
MIRT2123831	hsa-miR-4326	CLIP-seq
MIRT2123832	hsa-miR-4430	CLIP-seq
MIRT1412261	hsa-miR-4463	CLIP-seq
MIRT1412263	hsa-miR-4499	CLIP-seq
MIRT1412306	hsa-miR-4505	CLIP-seq
MIRT1412264	hsa-miR-4529-5p	CLIP-seq
MIRT2123833	hsa-miR-4641	CLIP-seq
MIRT1412307	hsa-miR-4687-3p	CLIP-seq
MIRT2123834	hsa-miR-4756-3p	CLIP-seq
MIRT2123835	hsa-miR-4796-3p	CLIP-seq
MIRT2123836	hsa-miR-545	CLIP-seq
MIRT1412315	hsa-miR-922	CLIP-seq
MIRT1412290	hsa-miR-103a	CLIP-seq
MIRT1412291	hsa-miR-107	CLIP-seq
MIRT1412317	hsa-miR-1237	CLIP-seq
MIRT2345840	hsa-miR-150	CLIP-seq
MIRT2345841	hsa-miR-151-5p	CLIP-seq
MIRT2345842	hsa-miR-151b	CLIP-seq
MIRT2345843	hsa-miR-1976	CLIP-seq
MIRT1412325	hsa-miR-2355-5p	CLIP-seq
MIRT2123824	hsa-miR-3064-5p	CLIP-seq
MIRT2345844	hsa-miR-3074-3p	CLIP-seq
MIRT2345845	hsa-miR-3124-3p	CLIP-seq
MIRT2345846	hsa-miR-3130-3p	CLIP-seq
MIRT2345847	hsa-miR-3131	CLIP-seq
MIRT2345848	hsa-miR-3157-5p	CLIP-seq
MIRT1412295	hsa-miR-3178	CLIP-seq
MIRT2345849	hsa-miR-330-3p	CLIP-seq
MIRT1412330	hsa-miR-3613-3p	CLIP-seq
MIRT1412249	hsa-miR-3616-5p	CLIP-seq
MIRT1412250	hsa-miR-3647-5p	CLIP-seq
MIRT2123829	hsa-miR-3652	CLIP-seq
MIRT1412331	hsa-miR-3667-3p	CLIP-seq
MIRT1412257	hsa-miR-3944-5p	CLIP-seq
MIRT2345850	hsa-miR-4422	CLIP-seq
MIRT2123832	hsa-miR-4430	CLIP-seq
MIRT2345851	hsa-miR-4436b-5p	CLIP-seq
MIRT1412301	hsa-miR-4446-3p	CLIP-seq
MIRT1412303	hsa-miR-4486	CLIP-seq
MIRT1412304	hsa-miR-4492	CLIP-seq
MIRT2345852	hsa-miR-4495	CLIP-seq
MIRT1412305	hsa-miR-4498	CLIP-seq
MIRT1412306	hsa-miR-4505	CLIP-seq
MIRT2345853	hsa-miR-4638-5p	CLIP-seq
MIRT1412346	hsa-miR-4660	CLIP-seq
MIRT1412307	hsa-miR-4687-3p	CLIP-seq
MIRT2345854	hsa-miR-4691-3p	CLIP-seq
MIRT2345855	hsa-miR-4713-5p	CLIP-seq
MIRT1412352	hsa-miR-4793-5p	CLIP-seq
MIRT1412274	hsa-miR-4795-5p	CLIP-seq
MIRT2345856	hsa-miR-513c	CLIP-seq
MIRT2345857	hsa-miR-514b-5p	CLIP-seq
MIRT2345858	hsa-miR-532-3p	CLIP-seq
MIRT2345859	hsa-miR-570	CLIP-seq
MIRT1412281	hsa-miR-573	CLIP-seq
MIRT2345860	hsa-miR-611	CLIP-seq
MIRT1412365	hsa-miR-646	CLIP-seq
MIRT1412313	hsa-miR-762	CLIP-seq
MIRT1412315	hsa-miR-922	CLIP-seq
MIRT1412237	hsa-miR-122	CLIP-seq
MIRT2461175	hsa-miR-188-3p	CLIP-seq
MIRT2461176	hsa-miR-3937	CLIP-seq
MIRT2461177	hsa-miR-4749-3p	CLIP-seq
MIRT2345858	hsa-miR-532-3p	CLIP-seq
MIRT1412236	hsa-miR-1207-5p	CLIP-seq
MIRT2638799	hsa-miR-1238	CLIP-seq
MIRT2638800	hsa-miR-1244	CLIP-seq
MIRT2638801	hsa-miR-1283	CLIP-seq
MIRT2638802	hsa-miR-149	CLIP-seq
MIRT2345841	hsa-miR-151-5p	CLIP-seq
MIRT2345842	hsa-miR-151b	CLIP-seq
MIRT2638803	hsa-miR-183	CLIP-seq
MIRT2461175	hsa-miR-188-3p	CLIP-seq
MIRT2638804	hsa-miR-194	CLIP-seq
MIRT2345843	hsa-miR-1976	CLIP-seq
MIRT2638805	hsa-miR-199a-3p	CLIP-seq
MIRT2638806	hsa-miR-199b-3p	CLIP-seq
MIRT2638807	hsa-miR-24	CLIP-seq
MIRT2638808	hsa-miR-3064-3p	CLIP-seq
MIRT2638809	hsa-miR-3129-5p	CLIP-seq
MIRT2345846	hsa-miR-3130-3p	CLIP-seq
MIRT2345847	hsa-miR-3131	CLIP-seq
MIRT2638810	hsa-miR-3158-3p	CLIP-seq
MIRT2638811	hsa-miR-3168	CLIP-seq
MIRT2638812	hsa-miR-3173-3p	CLIP-seq
MIRT1412296	hsa-miR-3183	CLIP-seq
MIRT2638813	hsa-miR-3616-3p	CLIP-seq
MIRT2638814	hsa-miR-3692	CLIP-seq
MIRT2638815	hsa-miR-376c	CLIP-seq
MIRT2638816	hsa-miR-377	CLIP-seq
MIRT2461176	hsa-miR-3937	CLIP-seq
MIRT2638817	hsa-miR-4321	CLIP-seq
MIRT1412340	hsa-miR-4473	CLIP-seq
MIRT2638818	hsa-miR-4533	CLIP-seq
MIRT1412265	hsa-miR-4643	CLIP-seq
MIRT2638819	hsa-miR-4646-5p	CLIP-seq
MIRT2345854	hsa-miR-4691-3p	CLIP-seq
MIRT2638820	hsa-miR-4703-3p	CLIP-seq
MIRT1412308	hsa-miR-4723-3p	CLIP-seq
MIRT2638821	hsa-miR-4731-5p	CLIP-seq
MIRT1412269	hsa-miR-4736	CLIP-seq
MIRT1412270	hsa-miR-4747-5p	CLIP-seq
MIRT2461177	hsa-miR-4749-3p	CLIP-seq
MIRT1412271	hsa-miR-4763-3p	CLIP-seq
MIRT2638822	hsa-miR-4779	CLIP-seq
MIRT2638823	hsa-miR-4781-5p	CLIP-seq
MIRT2638824	hsa-miR-4803	CLIP-seq
MIRT2638825	hsa-miR-486-3p	CLIP-seq
MIRT2638826	hsa-miR-489	CLIP-seq
MIRT1412355	hsa-miR-512-3p	CLIP-seq
MIRT2638827	hsa-miR-516a-3p	CLIP-seq
MIRT1412356	hsa-miR-520f	CLIP-seq
MIRT2345858	hsa-miR-532-3p	CLIP-seq
MIRT2123836	hsa-miR-545	CLIP-seq
MIRT2638828	hsa-miR-564	CLIP-seq
MIRT2345860	hsa-miR-611	CLIP-seq
MIRT2638829	hsa-miR-642b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	22613832, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005773	Component	Vacuole	IEA
GO:0005776	Component	Autophagosome	IBA
GO:0005776	Component	Autophagosome	IDA	22613832
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006914	Process	Autophagy	IEA
GO:0010507	Process	Negative regulation of autophagy	IMP	22613832
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	22613832
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0055037	Component	Recycling endosome	IBA
GO:0055037	Component	Recycling endosome	IDA	17562788
GO:0055037	Component	Recycling endosome	TAS
GO:0071955	Process	Recycling endosome to Golgi transport	IMP	17562788
GO:1902017	Process	Regulation of cilium assembly	IMP	17646400
GO:2000785	Process	Regulation of autophagosome assembly	IBA
GO:2000785	Process	Regulation of autophagosome assembly	IMP	22613832

Other IDs

• MIM: 614855
• HGNC: 29246
• e!Ensembl: ENSG00000132405

Protein

• UniProt ID: Q9P2M4
• Protein name: TBC1 domain family member 14
• Protein function: Plays a role in the regulation of starvation-induced autophagosome formation (PubMed:22613832). Together with the TRAPPIII complex, regulates a constitutive trafficking step from peripheral recycling endosomes to the early Golgi, maintaining the
• PDB: 2QQ8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00566	RabGAP-TBC	404 → 631	Rab-GTPase-TBC domain	Family

• Sequence:

  MTDGKLSTSTNGVAFMGILDGRPGNPLQNLQHVNLKAPRLLSAPEYGPKLKLRALEDRHS
  LQSVDSGIPTLEIGNPEPVPCSAVHVRRKQSDSDLIPERAFQSACALPSCAPPAPSSTER
  EQSVRKSSTFPRTGYDSVKLYSPTSKALTRSDDVSVCSVSSLGTELSTTLSVSNEDILDL
  VVTSSSSAIVTLENDDDPQFTNVTLSSIKETRGLHQQDCVHEAEEGSKLKILGPFSNFFA
  RNLLARKQSARLDKHNDLGWKLFGKAPLRENAQKDSKRIQKEYEDKAGRPSKPPSPKQNV
  RKNLDFEPLSTTALILEDRPANLPAKPAEEAQKHRQQYEEMVVQAKKRELKEAQRRKKQL
  EERCRVEESIGNAVLTWNNEILPNWETMWCSRKVRDLWWQGIPPSVRGKVWSLAIGNELN
  ITHELFDICLARAKERWRSLSTGGSEVENEDAGFSAADREASLELIKLDISRTFPNLCIF
  QQGGPYHDMLHSILGAYTCYRPDVGYVQGMSFIAAVLILNLDTADAFIAFSNLLNKPCQM
  AFFRVDHGLMLTYFAAFEVFFEENLPKLFAHFKKNNLTPDIYLIDWIFTLYSKSLPLDLA
  CRIWDVFCRDGEEFLFRTALGILKLFEDILTKMDFIHMAQFLTRLPEDLPAEELFASIAT
  IQMQSRNKKWAQVLTALQKDSREMEKGSPSLRH

• Sequence length: 693

Pathways

Reactome:

TBC/RABGAPs

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations