ATAD3C (ATPase family AAA domain containing 3C)

Gene

• Entrez ID: 219293
• Gene name: ATPase family AAA domain containing 3C
• Gene symbol: ATAD3C
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1p36.33

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041557	hsa-miR-193b-3p	CLASH	23622248
MIRT645037	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT645036	hsa-miR-3937	HITS-CLIP	23824327
MIRT662634	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT633552	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT633551	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT633550	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT633549	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT633548	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT633547	hsa-miR-3934-3p	HITS-CLIP	23824327
MIRT645035	hsa-miR-4284	HITS-CLIP	23824327
MIRT645034	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633545	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT645033	hsa-miR-8057	HITS-CLIP	23824327
MIRT645037	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT645036	hsa-miR-3937	HITS-CLIP	23824327
MIRT633552	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT633551	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT633550	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT633547	hsa-miR-3934-3p	HITS-CLIP	23824327
MIRT645035	hsa-miR-4284	HITS-CLIP	23824327
MIRT645034	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633546	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT633545	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT645033	hsa-miR-8057	HITS-CLIP	23824327
MIRT633552	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT633551	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT633550	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT633549	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT633548	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT633547	hsa-miR-3934-3p	HITS-CLIP	23824327
MIRT633546	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT633545	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT645037	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT645036	hsa-miR-3937	HITS-CLIP	23824327
MIRT662634	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT633552	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT633551	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT633550	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT633549	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT633548	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT633547	hsa-miR-3934-3p	HITS-CLIP	23824327
MIRT645035	hsa-miR-4284	HITS-CLIP	23824327
MIRT645034	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633545	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT645033	hsa-miR-8057	HITS-CLIP	23824327
MIRT645037	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT645036	hsa-miR-3937	HITS-CLIP	23824327
MIRT633552	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT633551	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT633550	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT633547	hsa-miR-3934-3p	HITS-CLIP	23824327
MIRT645035	hsa-miR-4284	HITS-CLIP	23824327
MIRT645034	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633546	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT633545	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT645033	hsa-miR-8057	HITS-CLIP	23824327
MIRT633552	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT633551	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT633550	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT633549	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT633548	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT633547	hsa-miR-3934-3p	HITS-CLIP	23824327
MIRT633546	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT633545	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT803904	hsa-miR-1248	CLIP-seq
MIRT803905	hsa-miR-1275	CLIP-seq
MIRT803906	hsa-miR-1303	CLIP-seq
MIRT803907	hsa-miR-181a	CLIP-seq
MIRT803908	hsa-miR-181b	CLIP-seq
MIRT803909	hsa-miR-181c	CLIP-seq
MIRT803910	hsa-miR-181d	CLIP-seq
MIRT803911	hsa-miR-185	CLIP-seq
MIRT803912	hsa-miR-1972	CLIP-seq
MIRT803913	hsa-miR-2113	CLIP-seq
MIRT803914	hsa-miR-2355-5p	CLIP-seq
MIRT803915	hsa-miR-24	CLIP-seq
MIRT803916	hsa-miR-302a	CLIP-seq
MIRT803917	hsa-miR-302b	CLIP-seq
MIRT803918	hsa-miR-302c	CLIP-seq
MIRT803919	hsa-miR-302d	CLIP-seq
MIRT803920	hsa-miR-302e	CLIP-seq
MIRT803921	hsa-miR-3150a-3p	CLIP-seq
MIRT803922	hsa-miR-3171	CLIP-seq
MIRT803923	hsa-miR-3175	CLIP-seq
MIRT803924	hsa-miR-3620	CLIP-seq
MIRT803925	hsa-miR-3691-5p	CLIP-seq
MIRT803926	hsa-miR-372	CLIP-seq
MIRT803927	hsa-miR-373	CLIP-seq
MIRT803928	hsa-miR-3973	CLIP-seq
MIRT803929	hsa-miR-3977	CLIP-seq
MIRT803930	hsa-miR-4262	CLIP-seq
MIRT803931	hsa-miR-4292	CLIP-seq
MIRT803932	hsa-miR-4419a	CLIP-seq
MIRT803933	hsa-miR-4447	CLIP-seq
MIRT803934	hsa-miR-4466	CLIP-seq
MIRT803935	hsa-miR-4472	CLIP-seq
MIRT803936	hsa-miR-4476	CLIP-seq
MIRT803937	hsa-miR-4486	CLIP-seq
MIRT803938	hsa-miR-4510	CLIP-seq
MIRT803939	hsa-miR-451b	CLIP-seq
MIRT803940	hsa-miR-4525	CLIP-seq
MIRT803941	hsa-miR-4529-5p	CLIP-seq
MIRT803942	hsa-miR-4649-5p	CLIP-seq
MIRT803943	hsa-miR-4650-5p	CLIP-seq
MIRT803944	hsa-miR-4665-5p	CLIP-seq
MIRT803945	hsa-miR-4723-5p	CLIP-seq
MIRT803946	hsa-miR-4733-5p	CLIP-seq
MIRT803947	hsa-miR-4752	CLIP-seq
MIRT803948	hsa-miR-4764-5p	CLIP-seq
MIRT803949	hsa-miR-4782-5p	CLIP-seq
MIRT803950	hsa-miR-4793-3p	CLIP-seq
MIRT803951	hsa-miR-491-5p	CLIP-seq
MIRT803952	hsa-miR-513c	CLIP-seq
MIRT803953	hsa-miR-514b-5p	CLIP-seq
MIRT803954	hsa-miR-518a-5p	CLIP-seq
MIRT803955	hsa-miR-519a	CLIP-seq
MIRT803956	hsa-miR-519b-3p	CLIP-seq
MIRT803957	hsa-miR-519c-3p	CLIP-seq
MIRT803958	hsa-miR-520a-3p	CLIP-seq
MIRT803959	hsa-miR-520b	CLIP-seq
MIRT803960	hsa-miR-520c-3p	CLIP-seq
MIRT803961	hsa-miR-520d-3p	CLIP-seq
MIRT803962	hsa-miR-520e	CLIP-seq
MIRT803963	hsa-miR-527	CLIP-seq
MIRT803964	hsa-miR-548aa	CLIP-seq
MIRT803965	hsa-miR-548ac	CLIP-seq
MIRT803966	hsa-miR-548d-3p	CLIP-seq
MIRT803967	hsa-miR-548k	CLIP-seq
MIRT803968	hsa-miR-548z	CLIP-seq
MIRT803969	hsa-miR-568	CLIP-seq
MIRT803970	hsa-miR-625	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT803972	hsa-miR-671-5p	CLIP-seq
MIRT803973	hsa-miR-675	CLIP-seq
MIRT803974	hsa-miR-877	CLIP-seq
MIRT803975	hsa-miR-935	CLIP-seq
MIRT803976	hsa-miR-939	CLIP-seq
MIRT1921424	hsa-miR-4775	CLIP-seq
MIRT1921425	hsa-miR-590-3p	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT803911	hsa-miR-185	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT1921874	hsa-miR-4735-5p	CLIP-seq
MIRT1921424	hsa-miR-4775	CLIP-seq
MIRT1921425	hsa-miR-590-3p	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT803911	hsa-miR-185	CLIP-seq
MIRT1921874	hsa-miR-4735-5p	CLIP-seq
MIRT1921424	hsa-miR-4775	CLIP-seq
MIRT1921425	hsa-miR-590-3p	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT1937439	hsa-miR-122	CLIP-seq
MIRT1937440	hsa-miR-130a	CLIP-seq
MIRT1937441	hsa-miR-130b	CLIP-seq
MIRT803911	hsa-miR-185	CLIP-seq
MIRT1937442	hsa-miR-197	CLIP-seq
MIRT803913	hsa-miR-2113	CLIP-seq
MIRT1937443	hsa-miR-301a	CLIP-seq
MIRT1937444	hsa-miR-301b	CLIP-seq
MIRT1937445	hsa-miR-3135b	CLIP-seq
MIRT1937446	hsa-miR-3622a-3p	CLIP-seq
MIRT1937447	hsa-miR-3622b-3p	CLIP-seq
MIRT1937448	hsa-miR-3652	CLIP-seq
MIRT1937449	hsa-miR-3666	CLIP-seq
MIRT803925	hsa-miR-3691-5p	CLIP-seq
MIRT803929	hsa-miR-3977	CLIP-seq
MIRT1937450	hsa-miR-4295	CLIP-seq
MIRT1937451	hsa-miR-4430	CLIP-seq
MIRT803934	hsa-miR-4466	CLIP-seq
MIRT803936	hsa-miR-4476	CLIP-seq
MIRT1937452	hsa-miR-454	CLIP-seq
MIRT1937453	hsa-miR-4645-5p	CLIP-seq
MIRT1937454	hsa-miR-4656	CLIP-seq
MIRT1937455	hsa-miR-4673	CLIP-seq
MIRT803946	hsa-miR-4733-5p	CLIP-seq
MIRT803947	hsa-miR-4752	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT803973	hsa-miR-675	CLIP-seq
MIRT2177052	hsa-miR-1	CLIP-seq
MIRT2177053	hsa-miR-1200	CLIP-seq
MIRT1937439	hsa-miR-122	CLIP-seq
MIRT2177054	hsa-miR-1225-3p	CLIP-seq
MIRT2177055	hsa-miR-1228	CLIP-seq
MIRT2177056	hsa-miR-1233	CLIP-seq
MIRT2177057	hsa-miR-1270	CLIP-seq
MIRT2177058	hsa-miR-1273e	CLIP-seq
MIRT2177059	hsa-miR-1285	CLIP-seq
MIRT1937440	hsa-miR-130a	CLIP-seq
MIRT1937441	hsa-miR-130b	CLIP-seq
MIRT2177060	hsa-miR-148a	CLIP-seq
MIRT2177061	hsa-miR-148b	CLIP-seq
MIRT2177062	hsa-miR-152	CLIP-seq
MIRT2177063	hsa-miR-1911	CLIP-seq
MIRT803912	hsa-miR-1972	CLIP-seq
MIRT2177064	hsa-miR-1976	CLIP-seq
MIRT2177065	hsa-miR-206	CLIP-seq
MIRT803913	hsa-miR-2113	CLIP-seq
MIRT1937443	hsa-miR-301a	CLIP-seq
MIRT1937444	hsa-miR-301b	CLIP-seq
MIRT2177066	hsa-miR-3065-5p	CLIP-seq
MIRT1937445	hsa-miR-3135b	CLIP-seq
MIRT2177067	hsa-miR-3151	CLIP-seq
MIRT2177068	hsa-miR-3157-5p	CLIP-seq
MIRT2177069	hsa-miR-3165	CLIP-seq
MIRT803922	hsa-miR-3171	CLIP-seq
MIRT2177070	hsa-miR-3187-5p	CLIP-seq
MIRT803924	hsa-miR-3620	CLIP-seq
MIRT2177071	hsa-miR-3622a-5p	CLIP-seq
MIRT1937448	hsa-miR-3652	CLIP-seq
MIRT1937449	hsa-miR-3666	CLIP-seq
MIRT2177072	hsa-miR-3673	CLIP-seq
MIRT2177073	hsa-miR-3689d	CLIP-seq
MIRT803925	hsa-miR-3691-5p	CLIP-seq
MIRT803929	hsa-miR-3977	CLIP-seq
MIRT2177074	hsa-miR-4269	CLIP-seq
MIRT2177075	hsa-miR-4279	CLIP-seq
MIRT803931	hsa-miR-4292	CLIP-seq
MIRT1937450	hsa-miR-4295	CLIP-seq
MIRT2177076	hsa-miR-4324	CLIP-seq
MIRT1937451	hsa-miR-4430	CLIP-seq
MIRT2177077	hsa-miR-4433	CLIP-seq
MIRT2177078	hsa-miR-4436b-5p	CLIP-seq
MIRT2177079	hsa-miR-4437	CLIP-seq
MIRT2177080	hsa-miR-4459	CLIP-seq
MIRT803934	hsa-miR-4466	CLIP-seq
MIRT803941	hsa-miR-4529-5p	CLIP-seq
MIRT2177081	hsa-miR-4531	CLIP-seq
MIRT2177082	hsa-miR-4532	CLIP-seq
MIRT2177083	hsa-miR-4537	CLIP-seq
MIRT1937452	hsa-miR-454	CLIP-seq
MIRT1937453	hsa-miR-4645-5p	CLIP-seq
MIRT803943	hsa-miR-4650-5p	CLIP-seq
MIRT1937455	hsa-miR-4673	CLIP-seq
MIRT2177084	hsa-miR-4691-3p	CLIP-seq
MIRT2177085	hsa-miR-4722-3p	CLIP-seq
MIRT803947	hsa-miR-4752	CLIP-seq
MIRT803948	hsa-miR-4764-5p	CLIP-seq
MIRT803949	hsa-miR-4782-5p	CLIP-seq
MIRT2177086	hsa-miR-4786-5p	CLIP-seq
MIRT803950	hsa-miR-4793-3p	CLIP-seq
MIRT2177087	hsa-miR-486-3p	CLIP-seq
MIRT2177088	hsa-miR-493	CLIP-seq
MIRT2177089	hsa-miR-544b	CLIP-seq
MIRT2177090	hsa-miR-564	CLIP-seq
MIRT803969	hsa-miR-568	CLIP-seq
MIRT2177091	hsa-miR-571	CLIP-seq
MIRT2177092	hsa-miR-612	CLIP-seq
MIRT2177093	hsa-miR-613	CLIP-seq
MIRT2177094	hsa-miR-620	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT2177095	hsa-miR-661	CLIP-seq
MIRT2177096	hsa-miR-665	CLIP-seq
MIRT803973	hsa-miR-675	CLIP-seq
MIRT1937440	hsa-miR-130a	CLIP-seq
MIRT1937441	hsa-miR-130b	CLIP-seq
MIRT2177060	hsa-miR-148a	CLIP-seq
MIRT2177061	hsa-miR-148b	CLIP-seq
MIRT2177062	hsa-miR-152	CLIP-seq
MIRT803912	hsa-miR-1972	CLIP-seq
MIRT803913	hsa-miR-2113	CLIP-seq
MIRT1937443	hsa-miR-301a	CLIP-seq
MIRT1937444	hsa-miR-301b	CLIP-seq
MIRT803922	hsa-miR-3171	CLIP-seq
MIRT1937449	hsa-miR-3666	CLIP-seq
MIRT803925	hsa-miR-3691-5p	CLIP-seq
MIRT803929	hsa-miR-3977	CLIP-seq
MIRT1937450	hsa-miR-4295	CLIP-seq
MIRT803941	hsa-miR-4529-5p	CLIP-seq
MIRT1937452	hsa-miR-454	CLIP-seq
MIRT803943	hsa-miR-4650-5p	CLIP-seq
MIRT803947	hsa-miR-4752	CLIP-seq
MIRT803948	hsa-miR-4764-5p	CLIP-seq
MIRT803949	hsa-miR-4782-5p	CLIP-seq
MIRT803969	hsa-miR-568	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT803911	hsa-miR-185	CLIP-seq
MIRT1921874	hsa-miR-4735-5p	CLIP-seq
MIRT1921424	hsa-miR-4775	CLIP-seq
MIRT1921425	hsa-miR-590-3p	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT803911	hsa-miR-185	CLIP-seq
MIRT1921874	hsa-miR-4735-5p	CLIP-seq
MIRT1921424	hsa-miR-4775	CLIP-seq
MIRT1921425	hsa-miR-590-3p	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT803911	hsa-miR-185	CLIP-seq
MIRT1921874	hsa-miR-4735-5p	CLIP-seq
MIRT1921424	hsa-miR-4775	CLIP-seq
MIRT1921425	hsa-miR-590-3p	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT803936	hsa-miR-4476	CLIP-seq
MIRT803946	hsa-miR-4733-5p	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT803972	hsa-miR-671-5p	CLIP-seq
MIRT1937439	hsa-miR-122	CLIP-seq
MIRT1937440	hsa-miR-130a	CLIP-seq
MIRT1937441	hsa-miR-130b	CLIP-seq
MIRT803915	hsa-miR-24	CLIP-seq
MIRT1937443	hsa-miR-301a	CLIP-seq
MIRT1937444	hsa-miR-301b	CLIP-seq
MIRT1937445	hsa-miR-3135b	CLIP-seq
MIRT1937448	hsa-miR-3652	CLIP-seq
MIRT1937449	hsa-miR-3666	CLIP-seq
MIRT1937450	hsa-miR-4295	CLIP-seq
MIRT1937451	hsa-miR-4430	CLIP-seq
MIRT803934	hsa-miR-4466	CLIP-seq
MIRT803936	hsa-miR-4476	CLIP-seq
MIRT1937452	hsa-miR-454	CLIP-seq
MIRT1937453	hsa-miR-4645-5p	CLIP-seq
MIRT1937455	hsa-miR-4673	CLIP-seq
MIRT803946	hsa-miR-4733-5p	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT803972	hsa-miR-671-5p	CLIP-seq
MIRT803973	hsa-miR-675	CLIP-seq
MIRT1937439	hsa-miR-122	CLIP-seq
MIRT1937440	hsa-miR-130a	CLIP-seq
MIRT1937441	hsa-miR-130b	CLIP-seq
MIRT803915	hsa-miR-24	CLIP-seq
MIRT1937443	hsa-miR-301a	CLIP-seq
MIRT1937444	hsa-miR-301b	CLIP-seq
MIRT1937445	hsa-miR-3135b	CLIP-seq
MIRT1937448	hsa-miR-3652	CLIP-seq
MIRT1937449	hsa-miR-3666	CLIP-seq
MIRT1937450	hsa-miR-4295	CLIP-seq
MIRT1937451	hsa-miR-4430	CLIP-seq
MIRT803934	hsa-miR-4466	CLIP-seq
MIRT803936	hsa-miR-4476	CLIP-seq
MIRT1937452	hsa-miR-454	CLIP-seq
MIRT1937453	hsa-miR-4645-5p	CLIP-seq
MIRT1937455	hsa-miR-4673	CLIP-seq
MIRT2675545	hsa-miR-4715-3p	CLIP-seq
MIRT803946	hsa-miR-4733-5p	CLIP-seq
MIRT1921874	hsa-miR-4735-5p	CLIP-seq
MIRT1921424	hsa-miR-4775	CLIP-seq
MIRT1921425	hsa-miR-590-3p	CLIP-seq
MIRT803971	hsa-miR-651	CLIP-seq
MIRT803972	hsa-miR-671-5p	CLIP-seq
MIRT803973	hsa-miR-675	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0007005	Process	Mitochondrion organization	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA

Other IDs

• MIM: 617227
• HGNC: 32151
• e!Ensembl: ENSG00000215915

Protein

• UniProt ID: Q5T2N8
• Protein name: ATPase family AAA domain-containing protein 3C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12037	DUF3523	25 → 110	Domain of unknown function (DUF3523)	Family
  PF00004	AAA	173 → 300	ATPase family associated with various cellular activities (AAA)	Domain

• Sequence:

  MSKDALNLAQMQEQTLQLEQQSKLKQLVNEDLRKQEESVQKHHQTFLESIRAAGTLFGEG
  FRAFVTDRDKVTATVAGLTLLAVGVYSAKNATAVTGRYIEARLGKPSLVRETSRITVLEA
  LRHPIQQVSRRLLSRPQDVLEGVVLSPSLEARVRDIAIMTRNIKKNRGLYRHILLYGPPG
  TGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWANTSRRGLLLFVDEADA
  FLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLILASCHPEQFDWAINACIDVMVHFDL
  PGQEERARLVRMYLNEYVLKPATEGKRRLKLAQFDYGRKCLEIARLTEGMSCRKIAQLAV
  SWQATAYASKDGVLTEAMMDACVQDFVQQHQQMMRWLKGERPGPEDEQPSS

• Sequence length: 411

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
1P36.33 DUPLICATION SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Asthma	Associate	35858526	★☆☆☆☆ Found in Text Mining only
Ataxia	Associate	28549128	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Associate	28549128	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Associate	28549128	★☆☆☆☆ Found in Text Mining only
Dystonia	Associate	28549128	★☆☆☆☆ Found in Text Mining only