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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51643
Gene name	Transmembrane BAX inhibitor motif containing 4
Gene symbol	TMBIM4
Synonyms (NCBI Gene)	CGI-119GAAPLFG4S1RZPRO
Chromosome	12
Chromosome location	12q14.3

309

Show/Hide all (309)

miRTarBase ID	miRNA	Experiments	Reference
MIRT716868	hsa-miR-6850-3p	HITS-CLIP	19536157
MIRT716867	hsa-miR-1908-3p	HITS-CLIP	19536157
MIRT713112	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT713110	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT713111	hsa-miR-3192-5p	HITS-CLIP	19536157
MIRT713109	hsa-miR-619-5p	HITS-CLIP	19536157
MIRT713107	hsa-miR-6506-5p	HITS-CLIP	19536157
MIRT713108	hsa-miR-4747-5p	HITS-CLIP	19536157
MIRT713106	hsa-miR-5196-5p	HITS-CLIP	19536157
MIRT713105	hsa-miR-4314	HITS-CLIP	19536157
MIRT713114	hsa-miR-1298-3p	HITS-CLIP	19536157
MIRT713113	hsa-miR-4691-3p	HITS-CLIP	19536157
MIRT713112	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT713110	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT713111	hsa-miR-3192-5p	HITS-CLIP	19536157
MIRT713109	hsa-miR-619-5p	HITS-CLIP	19536157
MIRT713107	hsa-miR-6506-5p	HITS-CLIP	19536157
MIRT713108	hsa-miR-4747-5p	HITS-CLIP	19536157
MIRT713106	hsa-miR-5196-5p	HITS-CLIP	19536157
MIRT713105	hsa-miR-4314	HITS-CLIP	19536157
MIRT570972	hsa-miR-6769a-3p	PAR-CLIP	20371350
MIRT570973	hsa-miR-6887-3p	PAR-CLIP	20371350
MIRT570971	hsa-miR-1470	PAR-CLIP	20371350
MIRT570970	hsa-miR-4251	PAR-CLIP	20371350
MIRT570969	hsa-miR-4329	PAR-CLIP	20371350
MIRT570968	hsa-miR-6761-5p	PAR-CLIP	20371350
MIRT570967	hsa-miR-1253	PAR-CLIP	20371350
MIRT570966	hsa-miR-6770-5p	PAR-CLIP	20371350
MIRT570965	hsa-miR-1225-3p	PAR-CLIP	20371350
MIRT570964	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT570962	hsa-miR-4784	PAR-CLIP	20371350
MIRT570963	hsa-miR-4749-3p	PAR-CLIP	20371350
MIRT570961	hsa-miR-4689	PAR-CLIP	20371350
MIRT570960	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT441649	hsa-miR-551b-5p	PAR-CLIP	23708386
MIRT441648	hsa-miR-330-3p	PAR-CLIP	23708386
MIRT441647	hsa-miR-138-1-3p	PAR-CLIP	23708386
MIRT454054	hsa-miR-4694-3p	PAR-CLIP	23592263
MIRT454053	hsa-miR-224-3p	PAR-CLIP	23592263
MIRT454052	hsa-miR-522-3p	PAR-CLIP	23592263
MIRT454051	hsa-miR-510-5p	PAR-CLIP	23592263
MIRT454050	hsa-miR-3141	PAR-CLIP	23592263
MIRT454049	hsa-miR-1246	PAR-CLIP	23592263
MIRT454048	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT454046	hsa-miR-6777-3p	PAR-CLIP	23592263
MIRT454047	hsa-miR-1266-5p	PAR-CLIP	23592263
MIRT454045	hsa-miR-4518	PAR-CLIP	23592263
MIRT454044	hsa-miR-4746-3p	PAR-CLIP	23592263
MIRT454043	hsa-miR-6892-5p	PAR-CLIP	23592263
MIRT441649	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT441648	hsa-miR-330-3p	PAR-CLIP	22100165
MIRT441647	hsa-miR-138-1-3p	PAR-CLIP	22100165
MIRT441649	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT441648	hsa-miR-330-3p	PAR-CLIP	22100165
MIRT441647	hsa-miR-138-1-3p	PAR-CLIP	22100165
MIRT716868	hsa-miR-6850-3p	HITS-CLIP	19536157
MIRT716867	hsa-miR-1908-3p	HITS-CLIP	19536157
MIRT713112	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT713110	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT713111	hsa-miR-3192-5p	HITS-CLIP	19536157
MIRT713109	hsa-miR-619-5p	HITS-CLIP	19536157
MIRT713107	hsa-miR-6506-5p	HITS-CLIP	19536157
MIRT713108	hsa-miR-4747-5p	HITS-CLIP	19536157
MIRT713106	hsa-miR-5196-5p	HITS-CLIP	19536157
MIRT713105	hsa-miR-4314	HITS-CLIP	19536157
MIRT713114	hsa-miR-1298-3p	HITS-CLIP	19536157
MIRT713113	hsa-miR-4691-3p	HITS-CLIP	19536157
MIRT713112	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT713110	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT713111	hsa-miR-3192-5p	HITS-CLIP	19536157
MIRT713109	hsa-miR-619-5p	HITS-CLIP	19536157
MIRT713107	hsa-miR-6506-5p	HITS-CLIP	19536157
MIRT713108	hsa-miR-4747-5p	HITS-CLIP	19536157
MIRT713106	hsa-miR-5196-5p	HITS-CLIP	19536157
MIRT713105	hsa-miR-4314	HITS-CLIP	19536157
MIRT570972	hsa-miR-6769a-3p	PAR-CLIP	20371350
MIRT570973	hsa-miR-6887-3p	PAR-CLIP	20371350
MIRT570971	hsa-miR-1470	PAR-CLIP	20371350
MIRT570970	hsa-miR-4251	PAR-CLIP	20371350
MIRT570969	hsa-miR-4329	PAR-CLIP	20371350
MIRT570968	hsa-miR-6761-5p	PAR-CLIP	20371350
MIRT570967	hsa-miR-1253	PAR-CLIP	20371350
MIRT570966	hsa-miR-6770-5p	PAR-CLIP	20371350
MIRT570965	hsa-miR-1225-3p	PAR-CLIP	20371350
MIRT570964	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT570962	hsa-miR-4784	PAR-CLIP	20371350
MIRT570963	hsa-miR-4749-3p	PAR-CLIP	20371350
MIRT570961	hsa-miR-4689	PAR-CLIP	20371350
MIRT570960	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT441649	hsa-miR-551b-5p	PAR-CLIP	23708386
MIRT441648	hsa-miR-330-3p	PAR-CLIP	23708386
MIRT441647	hsa-miR-138-1-3p	PAR-CLIP	23708386
MIRT454054	hsa-miR-4694-3p	PAR-CLIP	23592263
MIRT454053	hsa-miR-224-3p	PAR-CLIP	23592263
MIRT454052	hsa-miR-522-3p	PAR-CLIP	23592263
MIRT454051	hsa-miR-510-5p	PAR-CLIP	23592263
MIRT454050	hsa-miR-3141	PAR-CLIP	23592263
MIRT454049	hsa-miR-1246	PAR-CLIP	23592263
MIRT454048	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT454046	hsa-miR-6777-3p	PAR-CLIP	23592263
MIRT454047	hsa-miR-1266-5p	PAR-CLIP	23592263
MIRT454045	hsa-miR-4518	PAR-CLIP	23592263
MIRT454044	hsa-miR-4746-3p	PAR-CLIP	23592263
MIRT454043	hsa-miR-6892-5p	PAR-CLIP	23592263
MIRT441649	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT441648	hsa-miR-330-3p	PAR-CLIP	22100165
MIRT441647	hsa-miR-138-1-3p	PAR-CLIP	22100165
MIRT441649	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT441648	hsa-miR-330-3p	PAR-CLIP	22100165
MIRT441647	hsa-miR-138-1-3p	PAR-CLIP	22100165
MIRT756399	hsa-miR-125a-3p	Luciferase reporter assayWestern blottingFlow cytometry	36173547
MIRT1427704	hsa-miR-1	CLIP-seq
MIRT1427705	hsa-miR-1193	CLIP-seq
MIRT1427706	hsa-miR-1226	CLIP-seq
MIRT1427707	hsa-miR-197	CLIP-seq
MIRT1427708	hsa-miR-206	CLIP-seq
MIRT1427709	hsa-miR-2115	CLIP-seq
MIRT1427710	hsa-miR-2392	CLIP-seq
MIRT1427711	hsa-miR-3149	CLIP-seq
MIRT1427712	hsa-miR-3187-3p	CLIP-seq
MIRT1427713	hsa-miR-323-3p	CLIP-seq
MIRT1427714	hsa-miR-3652	CLIP-seq
MIRT1427715	hsa-miR-3673	CLIP-seq
MIRT1427716	hsa-miR-3909	CLIP-seq
MIRT1427717	hsa-miR-409-3p	CLIP-seq
MIRT1427718	hsa-miR-411	CLIP-seq
MIRT1427719	hsa-miR-4252	CLIP-seq
MIRT1427720	hsa-miR-4275	CLIP-seq
MIRT1427721	hsa-miR-4430	CLIP-seq
MIRT1427722	hsa-miR-4435	CLIP-seq
MIRT1427723	hsa-miR-4438	CLIP-seq
MIRT1427724	hsa-miR-4654	CLIP-seq
MIRT1427725	hsa-miR-4701-5p	CLIP-seq
MIRT1427726	hsa-miR-4716-5p	CLIP-seq
MIRT1427727	hsa-miR-4733-3p	CLIP-seq
MIRT1427728	hsa-miR-4735-5p	CLIP-seq
MIRT1427729	hsa-miR-4769-5p	CLIP-seq
MIRT1427730	hsa-miR-4775	CLIP-seq
MIRT1427731	hsa-miR-4781-3p	CLIP-seq
MIRT1427732	hsa-miR-483-5p	CLIP-seq
MIRT1427733	hsa-miR-494	CLIP-seq
MIRT1427734	hsa-miR-5095	CLIP-seq
MIRT1427735	hsa-miR-5096	CLIP-seq
MIRT1427736	hsa-miR-516a-3p	CLIP-seq
MIRT1427737	hsa-miR-548s	CLIP-seq
MIRT1427738	hsa-miR-588	CLIP-seq
MIRT1427739	hsa-miR-590-3p	CLIP-seq
MIRT1427740	hsa-miR-613	CLIP-seq
MIRT1427704	hsa-miR-1	CLIP-seq
MIRT1427706	hsa-miR-1226	CLIP-seq
MIRT1427708	hsa-miR-206	CLIP-seq
MIRT2128131	hsa-miR-24	CLIP-seq
MIRT1427711	hsa-miR-3149	CLIP-seq
MIRT1427714	hsa-miR-3652	CLIP-seq
MIRT1427715	hsa-miR-3673	CLIP-seq
MIRT1427718	hsa-miR-411	CLIP-seq
MIRT2128132	hsa-miR-4284	CLIP-seq
MIRT1427721	hsa-miR-4430	CLIP-seq
MIRT1427727	hsa-miR-4733-3p	CLIP-seq
MIRT1427728	hsa-miR-4735-5p	CLIP-seq
MIRT1427732	hsa-miR-483-5p	CLIP-seq
MIRT1427740	hsa-miR-613	CLIP-seq
MIRT1427704	hsa-miR-1	CLIP-seq
MIRT1427706	hsa-miR-1226	CLIP-seq
MIRT2349843	hsa-miR-1915	CLIP-seq
MIRT1427708	hsa-miR-206	CLIP-seq
MIRT2128131	hsa-miR-24	CLIP-seq
MIRT1427711	hsa-miR-3149	CLIP-seq
MIRT2349844	hsa-miR-3176	CLIP-seq
MIRT2349845	hsa-miR-326	CLIP-seq
MIRT2349846	hsa-miR-330-5p	CLIP-seq
MIRT1427714	hsa-miR-3652	CLIP-seq
MIRT1427715	hsa-miR-3673	CLIP-seq
MIRT2349847	hsa-miR-3922-3p	CLIP-seq
MIRT2349848	hsa-miR-4267	CLIP-seq
MIRT2128132	hsa-miR-4284	CLIP-seq
MIRT1427721	hsa-miR-4430	CLIP-seq
MIRT1427723	hsa-miR-4438	CLIP-seq
MIRT2349849	hsa-miR-4715-3p	CLIP-seq
MIRT2349850	hsa-miR-4726-3p	CLIP-seq
MIRT1427727	hsa-miR-4733-3p	CLIP-seq
MIRT1427728	hsa-miR-4735-5p	CLIP-seq
MIRT2349851	hsa-miR-4757-5p	CLIP-seq
MIRT1427730	hsa-miR-4775	CLIP-seq
MIRT2349852	hsa-miR-498	CLIP-seq
MIRT1427734	hsa-miR-5095	CLIP-seq
MIRT1427739	hsa-miR-590-3p	CLIP-seq
MIRT1427740	hsa-miR-613	CLIP-seq
MIRT2349853	hsa-miR-720	CLIP-seq
MIRT1427704	hsa-miR-1	CLIP-seq
MIRT1427706	hsa-miR-1226	CLIP-seq
MIRT1427708	hsa-miR-206	CLIP-seq
MIRT2128131	hsa-miR-24	CLIP-seq
MIRT1427714	hsa-miR-3652	CLIP-seq
MIRT1427715	hsa-miR-3673	CLIP-seq
MIRT2128132	hsa-miR-4284	CLIP-seq
MIRT1427721	hsa-miR-4430	CLIP-seq
MIRT1427727	hsa-miR-4733-3p	CLIP-seq
MIRT1427740	hsa-miR-613	CLIP-seq
MIRT2461584	hsa-miR-1227	CLIP-seq
MIRT1427711	hsa-miR-3149	CLIP-seq
MIRT2461585	hsa-miR-3650	CLIP-seq
MIRT1427718	hsa-miR-411	CLIP-seq
MIRT2349848	hsa-miR-4267	CLIP-seq
MIRT2349849	hsa-miR-4715-3p	CLIP-seq
MIRT1427728	hsa-miR-4735-5p	CLIP-seq
MIRT1427730	hsa-miR-4775	CLIP-seq
MIRT1427732	hsa-miR-483-5p	CLIP-seq
MIRT1427739	hsa-miR-590-3p	CLIP-seq
MIRT1427704	hsa-miR-1	CLIP-seq
MIRT1427706	hsa-miR-1226	CLIP-seq
MIRT2461584	hsa-miR-1227	CLIP-seq
MIRT2349843	hsa-miR-1915	CLIP-seq
MIRT1427707	hsa-miR-197	CLIP-seq
MIRT1427708	hsa-miR-206	CLIP-seq
MIRT1427709	hsa-miR-2115	CLIP-seq
MIRT2643337	hsa-miR-219-2-3p	CLIP-seq
MIRT2128131	hsa-miR-24	CLIP-seq
MIRT2643338	hsa-miR-2964a-3p	CLIP-seq
MIRT2643339	hsa-miR-3145-3p	CLIP-seq
MIRT1427711	hsa-miR-3149	CLIP-seq
MIRT2643340	hsa-miR-3163	CLIP-seq
MIRT2349844	hsa-miR-3176	CLIP-seq
MIRT1427712	hsa-miR-3187-3p	CLIP-seq
MIRT2643341	hsa-miR-3199	CLIP-seq
MIRT2349845	hsa-miR-326	CLIP-seq
MIRT2349846	hsa-miR-330-5p	CLIP-seq
MIRT2461585	hsa-miR-3650	CLIP-seq
MIRT1427714	hsa-miR-3652	CLIP-seq
MIRT1427715	hsa-miR-3673	CLIP-seq
MIRT2349847	hsa-miR-3922-3p	CLIP-seq
MIRT2643342	hsa-miR-3934	CLIP-seq
MIRT1427718	hsa-miR-411	CLIP-seq
MIRT2349848	hsa-miR-4267	CLIP-seq
MIRT2643343	hsa-miR-4282	CLIP-seq
MIRT2128132	hsa-miR-4284	CLIP-seq
MIRT1427721	hsa-miR-4430	CLIP-seq
MIRT1427722	hsa-miR-4435	CLIP-seq
MIRT2643344	hsa-miR-4452	CLIP-seq
MIRT2643345	hsa-miR-4476	CLIP-seq
MIRT2643346	hsa-miR-4661-5p	CLIP-seq
MIRT1427725	hsa-miR-4701-5p	CLIP-seq
MIRT2349849	hsa-miR-4715-3p	CLIP-seq
MIRT1427726	hsa-miR-4716-5p	CLIP-seq
MIRT2349850	hsa-miR-4726-3p	CLIP-seq
MIRT1427727	hsa-miR-4733-3p	CLIP-seq
MIRT1427728	hsa-miR-4735-5p	CLIP-seq
MIRT2349851	hsa-miR-4757-5p	CLIP-seq
MIRT1427730	hsa-miR-4775	CLIP-seq
MIRT1427731	hsa-miR-4781-3p	CLIP-seq
MIRT1427732	hsa-miR-483-5p	CLIP-seq
MIRT1427733	hsa-miR-494	CLIP-seq
MIRT2349852	hsa-miR-498	CLIP-seq
MIRT1427735	hsa-miR-5096	CLIP-seq
MIRT1427736	hsa-miR-516a-3p	CLIP-seq
MIRT2643347	hsa-miR-518a-5p	CLIP-seq
MIRT2643348	hsa-miR-527	CLIP-seq
MIRT1427737	hsa-miR-548s	CLIP-seq
MIRT2643349	hsa-miR-552	CLIP-seq
MIRT1427738	hsa-miR-588	CLIP-seq
MIRT1427739	hsa-miR-590-3p	CLIP-seq
MIRT1427740	hsa-miR-613	CLIP-seq
MIRT2643350	hsa-miR-651	CLIP-seq
MIRT2643351	hsa-miR-944	CLIP-seq
MIRT1427704	hsa-miR-1	CLIP-seq
MIRT1427706	hsa-miR-1226	CLIP-seq
MIRT2461584	hsa-miR-1227	CLIP-seq
MIRT2349843	hsa-miR-1915	CLIP-seq
MIRT1427707	hsa-miR-197	CLIP-seq
MIRT1427708	hsa-miR-206	CLIP-seq
MIRT2643337	hsa-miR-219-2-3p	CLIP-seq
MIRT2128131	hsa-miR-24	CLIP-seq
MIRT2643338	hsa-miR-2964a-3p	CLIP-seq
MIRT2643339	hsa-miR-3145-3p	CLIP-seq
MIRT1427711	hsa-miR-3149	CLIP-seq
MIRT2643340	hsa-miR-3163	CLIP-seq
MIRT2349844	hsa-miR-3176	CLIP-seq
MIRT2643341	hsa-miR-3199	CLIP-seq
MIRT2349845	hsa-miR-326	CLIP-seq
MIRT2349846	hsa-miR-330-5p	CLIP-seq
MIRT2461585	hsa-miR-3650	CLIP-seq
MIRT1427714	hsa-miR-3652	CLIP-seq
MIRT1427715	hsa-miR-3673	CLIP-seq
MIRT2349847	hsa-miR-3922-3p	CLIP-seq
MIRT2643342	hsa-miR-3934	CLIP-seq
MIRT1427718	hsa-miR-411	CLIP-seq
MIRT2349848	hsa-miR-4267	CLIP-seq
MIRT2643343	hsa-miR-4282	CLIP-seq
MIRT2128132	hsa-miR-4284	CLIP-seq
MIRT1427721	hsa-miR-4430	CLIP-seq
MIRT2643344	hsa-miR-4452	CLIP-seq
MIRT2643345	hsa-miR-4476	CLIP-seq
MIRT2643346	hsa-miR-4661-5p	CLIP-seq
MIRT2349849	hsa-miR-4715-3p	CLIP-seq
MIRT2349850	hsa-miR-4726-3p	CLIP-seq
MIRT1427727	hsa-miR-4733-3p	CLIP-seq
MIRT1427728	hsa-miR-4735-5p	CLIP-seq
MIRT2349851	hsa-miR-4757-5p	CLIP-seq
MIRT1427730	hsa-miR-4775	CLIP-seq
MIRT1427732	hsa-miR-483-5p	CLIP-seq
MIRT2349852	hsa-miR-498	CLIP-seq
MIRT1427735	hsa-miR-5096	CLIP-seq
MIRT2643347	hsa-miR-518a-5p	CLIP-seq
MIRT2643348	hsa-miR-527	CLIP-seq
MIRT2643349	hsa-miR-552	CLIP-seq
MIRT1427739	hsa-miR-590-3p	CLIP-seq
MIRT1427740	hsa-miR-613	CLIP-seq
MIRT2643350	hsa-miR-651	CLIP-seq
MIRT2643351	hsa-miR-944	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005262	Function	Calcium channel activity	IBA
GO:0005515	Function	Protein binding	IPI	19553469
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	25764978
GO:0005794	Component	Golgi apparatus	IEA
GO:0005795	Component	Golgi stack	IDA	17319741
GO:0006915	Process	Apoptotic process	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	17319741
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0050848	Process	Regulation of calcium-mediated signaling	IDA	19553469
GO:0070588	Process	Calcium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
616874	24257	ENSG00000155957

Q9HC24

Protein name

Protein lifeguard 4 (Golgi anti-apoptotic protein) (Protein S1R) (Transmembrane BAX inhibitor motif-containing protein 4) (Z-protein)

Protein function

Anti-apoptotic protein which can inhibit apoptosis induced by intrinsic and extrinsic apoptotic stimuli. Can modulate both capacitative Ca2+ entry and inositol 1,4,5-trisphosphate (IP3)-mediated Ca2+ release. {ECO:0000269|PubMed:17319741, ECO:00

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01027	Bax1-I	32 → 232	Inhibitor of apoptosis-promoting Bax1	Family

Sequence

MADPDPRYPRSSIEDDFNYGSSVASATVHIRMAFLRKVYSILSLQVLLTTVTSTVFLYFE
SVRTFVHESPALILLFALGSLGLIFALILNRHKYPLNLYLLFGFTLLEALTVAVVVTFYD
VYIILQAFILTTTVFFGLTVYTLQSKKDFSKFGAGLFALLWILCLSGFLKFFFYSEIMEL
VLAAAGALLFCGFIIYDTHSLMHKLSPEEYVLAAISLYLDIINLFLHLLRFLEAVNKK

Sequence length

238

Interactions

View interactions

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
OVARIAN CYSTS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	28752463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	1079112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24455749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18210030, 21540831, 21800006, 24455749, 27289142, 28792638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22055461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28469007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21800006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	10651310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22055461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24455749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	22055461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	25176350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TMBIM4 (transmembrane BAX inhibitor motif containing 4)