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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9842
Gene name	Pleckstrin homology and RUN domain containing M1
Gene symbol	PLEKHM1
Synonyms (NCBI Gene)	AP162B2OPTA3OPTB6
Chromosome	17
Chromosome location	17q21.31
Summary	The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced tr

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs559224144	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs786205055	C>G,T	Pathogenic	Genic upstream transcript variant, intron variant, splice donor variant, 5 prime UTR variant
rs1567759023	TG>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant

259

Show/Hide all (259)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051055	hsa-miR-17-5p	CLASH	23622248
MIRT047158	hsa-miR-183-5p	CLASH	23622248
MIRT044379	hsa-miR-106b-5p	CLASH	23622248
MIRT052883	hsa-miR-3909	CLASH	23622248
MIRT044379	hsa-miR-106b-5p	PAR-CLIP	26701625
MIRT044379	hsa-miR-106b-5p	PAR-CLIP	26701625
MIRT044379	hsa-miR-106b-5p	PAR-CLIP	26701625
MIRT051055	hsa-miR-17-5p	PAR-CLIP	26701625
MIRT051055	hsa-miR-17-5p	PAR-CLIP	26701625
MIRT051055	hsa-miR-17-5p	PAR-CLIP	26701625
MIRT1242412	hsa-miR-103a	CLIP-seq
MIRT1242413	hsa-miR-107	CLIP-seq
MIRT1242414	hsa-miR-1184	CLIP-seq
MIRT1242415	hsa-miR-1237	CLIP-seq
MIRT1242416	hsa-miR-1248	CLIP-seq
MIRT1242417	hsa-miR-1281	CLIP-seq
MIRT1242418	hsa-miR-139-3p	CLIP-seq
MIRT1242419	hsa-miR-145	CLIP-seq
MIRT1242420	hsa-miR-1976	CLIP-seq
MIRT1242421	hsa-miR-214	CLIP-seq
MIRT1242422	hsa-miR-24	CLIP-seq
MIRT1242423	hsa-miR-2467-3p	CLIP-seq
MIRT1242424	hsa-miR-3120-5p	CLIP-seq
MIRT1242425	hsa-miR-3137	CLIP-seq
MIRT1242426	hsa-miR-3150b-3p	CLIP-seq
MIRT1242427	hsa-miR-323-5p	CLIP-seq
MIRT1242428	hsa-miR-3619-5p	CLIP-seq
MIRT1242429	hsa-miR-4279	CLIP-seq
MIRT1242430	hsa-miR-4291	CLIP-seq
MIRT1242431	hsa-miR-4299	CLIP-seq
MIRT1242432	hsa-miR-4417	CLIP-seq
MIRT1242433	hsa-miR-4456	CLIP-seq
MIRT1242434	hsa-miR-4663	CLIP-seq
MIRT1242435	hsa-miR-4674	CLIP-seq
MIRT1242436	hsa-miR-4689	CLIP-seq
MIRT1242437	hsa-miR-4690-5p	CLIP-seq
MIRT1242438	hsa-miR-4701-5p	CLIP-seq
MIRT1242439	hsa-miR-4710	CLIP-seq
MIRT1242440	hsa-miR-4732-5p	CLIP-seq
MIRT1242441	hsa-miR-4784	CLIP-seq
MIRT1242442	hsa-miR-539	CLIP-seq
MIRT1242443	hsa-miR-541	CLIP-seq
MIRT1242444	hsa-miR-548q	CLIP-seq
MIRT1242445	hsa-miR-588	CLIP-seq
MIRT1242446	hsa-miR-625	CLIP-seq
MIRT1242447	hsa-miR-654-5p	CLIP-seq
MIRT1242448	hsa-miR-761	CLIP-seq
MIRT1242449	hsa-miR-876-3p	CLIP-seq
MIRT1242450	hsa-miR-922	CLIP-seq
MIRT1242451	hsa-miR-939	CLIP-seq
MIRT1242412	hsa-miR-103a	CLIP-seq
MIRT1242413	hsa-miR-107	CLIP-seq
MIRT2071446	hsa-miR-1178	CLIP-seq
MIRT1242414	hsa-miR-1184	CLIP-seq
MIRT2071447	hsa-miR-1205	CLIP-seq
MIRT2071448	hsa-miR-1233	CLIP-seq
MIRT2071449	hsa-miR-1254	CLIP-seq
MIRT2071450	hsa-miR-1266	CLIP-seq
MIRT2071451	hsa-miR-1292	CLIP-seq
MIRT2071452	hsa-miR-1343	CLIP-seq
MIRT2071453	hsa-miR-138	CLIP-seq
MIRT1242418	hsa-miR-139-3p	CLIP-seq
MIRT2071454	hsa-miR-146b-3p	CLIP-seq
MIRT2071455	hsa-miR-1537	CLIP-seq
MIRT2071456	hsa-miR-1587	CLIP-seq
MIRT2071457	hsa-miR-1915	CLIP-seq
MIRT2071458	hsa-miR-205	CLIP-seq
MIRT2071459	hsa-miR-2110	CLIP-seq
MIRT2071460	hsa-miR-2861	CLIP-seq
MIRT2071461	hsa-miR-296-5p	CLIP-seq
MIRT2071462	hsa-miR-3116	CLIP-seq
MIRT2071463	hsa-miR-3127-5p	CLIP-seq
MIRT2071464	hsa-miR-3158-5p	CLIP-seq
MIRT2071465	hsa-miR-3173-5p	CLIP-seq
MIRT2071466	hsa-miR-3183	CLIP-seq
MIRT2071467	hsa-miR-326	CLIP-seq
MIRT2071468	hsa-miR-330-5p	CLIP-seq
MIRT2071469	hsa-miR-361-3p	CLIP-seq
MIRT2071470	hsa-miR-3616-3p	CLIP-seq
MIRT2071471	hsa-miR-370	CLIP-seq
MIRT2071472	hsa-miR-371-5p	CLIP-seq
MIRT2071473	hsa-miR-378g	CLIP-seq
MIRT2071474	hsa-miR-3918	CLIP-seq
MIRT2071475	hsa-miR-4254	CLIP-seq
MIRT2071476	hsa-miR-4290	CLIP-seq
MIRT2071477	hsa-miR-4314	CLIP-seq
MIRT2071478	hsa-miR-4432	CLIP-seq
MIRT2071479	hsa-miR-4470	CLIP-seq
MIRT2071480	hsa-miR-4492	CLIP-seq
MIRT2071481	hsa-miR-4498	CLIP-seq
MIRT2071482	hsa-miR-4505	CLIP-seq
MIRT2071483	hsa-miR-4512	CLIP-seq
MIRT2071484	hsa-miR-4518	CLIP-seq
MIRT2071485	hsa-miR-4640-5p	CLIP-seq
MIRT2071486	hsa-miR-4656	CLIP-seq
MIRT2071487	hsa-miR-4667-5p	CLIP-seq
MIRT2071488	hsa-miR-4675	CLIP-seq
MIRT2071489	hsa-miR-4685-5p	CLIP-seq
MIRT2071490	hsa-miR-4700-5p	CLIP-seq
MIRT2071491	hsa-miR-4722-3p	CLIP-seq
MIRT2071492	hsa-miR-4723-3p	CLIP-seq
MIRT2071493	hsa-miR-4726-5p	CLIP-seq
MIRT2071494	hsa-miR-4741	CLIP-seq
MIRT2071495	hsa-miR-4763-5p	CLIP-seq
MIRT2071496	hsa-miR-496	CLIP-seq
MIRT2071497	hsa-miR-518a-5p	CLIP-seq
MIRT2071498	hsa-miR-527	CLIP-seq
MIRT1242443	hsa-miR-541	CLIP-seq
MIRT2071499	hsa-miR-548u	CLIP-seq
MIRT2071500	hsa-miR-604	CLIP-seq
MIRT2071501	hsa-miR-615-5p	CLIP-seq
MIRT2071502	hsa-miR-622	CLIP-seq
MIRT2071503	hsa-miR-637	CLIP-seq
MIRT2071504	hsa-miR-647	CLIP-seq
MIRT1242447	hsa-miR-654-5p	CLIP-seq
MIRT2071505	hsa-miR-762	CLIP-seq
MIRT2071506	hsa-miR-767-3p	CLIP-seq
MIRT2071507	hsa-miR-874	CLIP-seq
MIRT2298666	hsa-miR-1182	CLIP-seq
MIRT2298667	hsa-miR-1224-3p	CLIP-seq
MIRT2298668	hsa-miR-1226	CLIP-seq
MIRT1242415	hsa-miR-1237	CLIP-seq
MIRT1242416	hsa-miR-1248	CLIP-seq
MIRT2071449	hsa-miR-1254	CLIP-seq
MIRT2298669	hsa-miR-1260	CLIP-seq
MIRT2298670	hsa-miR-1260b	CLIP-seq
MIRT2071450	hsa-miR-1266	CLIP-seq
MIRT2298671	hsa-miR-1280	CLIP-seq
MIRT2298672	hsa-miR-1291	CLIP-seq
MIRT2071451	hsa-miR-1292	CLIP-seq
MIRT2298673	hsa-miR-1293	CLIP-seq
MIRT2298674	hsa-miR-1323	CLIP-seq
MIRT2071453	hsa-miR-138	CLIP-seq
MIRT1242418	hsa-miR-139-3p	CLIP-seq
MIRT1242419	hsa-miR-145	CLIP-seq
MIRT2071454	hsa-miR-146b-3p	CLIP-seq
MIRT2071455	hsa-miR-1537	CLIP-seq
MIRT2298675	hsa-miR-1825	CLIP-seq
MIRT2298676	hsa-miR-191	CLIP-seq
MIRT2071457	hsa-miR-1915	CLIP-seq
MIRT2298677	hsa-miR-199a-5p	CLIP-seq
MIRT2298678	hsa-miR-199b-5p	CLIP-seq
MIRT2071458	hsa-miR-205	CLIP-seq
MIRT2071459	hsa-miR-2110	CLIP-seq
MIRT1242421	hsa-miR-214	CLIP-seq
MIRT1242422	hsa-miR-24	CLIP-seq
MIRT2071460	hsa-miR-2861	CLIP-seq
MIRT2071461	hsa-miR-296-5p	CLIP-seq
MIRT2071462	hsa-miR-3116	CLIP-seq
MIRT2298679	hsa-miR-3117-3p	CLIP-seq
MIRT2071463	hsa-miR-3127-5p	CLIP-seq
MIRT2298680	hsa-miR-3145-5p	CLIP-seq
MIRT2298681	hsa-miR-3165	CLIP-seq
MIRT2071465	hsa-miR-3173-5p	CLIP-seq
MIRT2298682	hsa-miR-3184	CLIP-seq
MIRT2298683	hsa-miR-3195	CLIP-seq
MIRT2298684	hsa-miR-3197	CLIP-seq
MIRT2298685	hsa-miR-324-5p	CLIP-seq
MIRT2298686	hsa-miR-328	CLIP-seq
MIRT2298687	hsa-miR-339-3p	CLIP-seq
MIRT2298688	hsa-miR-342-3p	CLIP-seq
MIRT2071469	hsa-miR-361-3p	CLIP-seq
MIRT2298689	hsa-miR-3617	CLIP-seq
MIRT1242428	hsa-miR-3619-5p	CLIP-seq
MIRT2298690	hsa-miR-3657	CLIP-seq
MIRT2298691	hsa-miR-3675-5p	CLIP-seq
MIRT2298692	hsa-miR-3677-5p	CLIP-seq
MIRT2298693	hsa-miR-3679-3p	CLIP-seq
MIRT2071471	hsa-miR-370	CLIP-seq
MIRT2071472	hsa-miR-371-5p	CLIP-seq
MIRT2071473	hsa-miR-378g	CLIP-seq
MIRT2071474	hsa-miR-3918	CLIP-seq
MIRT2298694	hsa-miR-3922-5p	CLIP-seq
MIRT2298695	hsa-miR-3925-3p	CLIP-seq
MIRT2298696	hsa-miR-3929	CLIP-seq
MIRT2298697	hsa-miR-3942-3p	CLIP-seq
MIRT2298698	hsa-miR-423-5p	CLIP-seq
MIRT2071475	hsa-miR-4254	CLIP-seq
MIRT1242429	hsa-miR-4279	CLIP-seq
MIRT1242430	hsa-miR-4291	CLIP-seq
MIRT1242431	hsa-miR-4299	CLIP-seq
MIRT2071477	hsa-miR-4314	CLIP-seq
MIRT2298699	hsa-miR-4323	CLIP-seq
MIRT1242432	hsa-miR-4417	CLIP-seq
MIRT2298700	hsa-miR-4419b	CLIP-seq
MIRT2071478	hsa-miR-4432	CLIP-seq
MIRT2298701	hsa-miR-4449	CLIP-seq
MIRT2298702	hsa-miR-4462	CLIP-seq
MIRT2298703	hsa-miR-4478	CLIP-seq
MIRT2298704	hsa-miR-4481	CLIP-seq
MIRT2298705	hsa-miR-4483	CLIP-seq
MIRT2071482	hsa-miR-4505	CLIP-seq
MIRT2298706	hsa-miR-4506	CLIP-seq
MIRT2071483	hsa-miR-4512	CLIP-seq
MIRT2071484	hsa-miR-4518	CLIP-seq
MIRT2071485	hsa-miR-4640-5p	CLIP-seq
MIRT2298707	hsa-miR-4652-5p	CLIP-seq
MIRT1242434	hsa-miR-4663	CLIP-seq
MIRT2071487	hsa-miR-4667-5p	CLIP-seq
MIRT1242435	hsa-miR-4674	CLIP-seq
MIRT2071489	hsa-miR-4685-5p	CLIP-seq
MIRT1242437	hsa-miR-4690-5p	CLIP-seq
MIRT2298708	hsa-miR-4691-3p	CLIP-seq
MIRT2298709	hsa-miR-4696	CLIP-seq
MIRT2071490	hsa-miR-4700-5p	CLIP-seq
MIRT2298710	hsa-miR-4707-5p	CLIP-seq
MIRT1242439	hsa-miR-4710	CLIP-seq
MIRT2071493	hsa-miR-4726-5p	CLIP-seq
MIRT2298711	hsa-miR-4745-5p	CLIP-seq
MIRT2298712	hsa-miR-4758-5p	CLIP-seq
MIRT2071495	hsa-miR-4763-5p	CLIP-seq
MIRT2298713	hsa-miR-4766-5p	CLIP-seq
MIRT2298714	hsa-miR-4781-5p	CLIP-seq
MIRT2298715	hsa-miR-4792	CLIP-seq
MIRT2071497	hsa-miR-518a-5p	CLIP-seq
MIRT2298716	hsa-miR-520a-5p	CLIP-seq
MIRT2298717	hsa-miR-525-5p	CLIP-seq
MIRT2071498	hsa-miR-527	CLIP-seq
MIRT2298718	hsa-miR-532-3p	CLIP-seq
MIRT1242443	hsa-miR-541	CLIP-seq
MIRT2298719	hsa-miR-545	CLIP-seq
MIRT2298720	hsa-miR-548an	CLIP-seq
MIRT2298721	hsa-miR-548o	CLIP-seq
MIRT2071499	hsa-miR-548u	CLIP-seq
MIRT2298722	hsa-miR-553	CLIP-seq
MIRT2298723	hsa-miR-569	CLIP-seq
MIRT2071500	hsa-miR-604	CLIP-seq
MIRT2298724	hsa-miR-617	CLIP-seq
MIRT2071503	hsa-miR-637	CLIP-seq
MIRT2298725	hsa-miR-641	CLIP-seq
MIRT2071504	hsa-miR-647	CLIP-seq
MIRT1242447	hsa-miR-654-5p	CLIP-seq
MIRT1242448	hsa-miR-761	CLIP-seq
MIRT2298726	hsa-miR-766	CLIP-seq
MIRT2071507	hsa-miR-874	CLIP-seq
MIRT2298727	hsa-miR-885-3p	CLIP-seq
MIRT1242450	hsa-miR-922	CLIP-seq
MIRT1242414	hsa-miR-1184	CLIP-seq
MIRT2392676	hsa-miR-217	CLIP-seq
MIRT2392677	hsa-miR-4418	CLIP-seq
MIRT2392678	hsa-miR-509-3-5p	CLIP-seq
MIRT2392679	hsa-miR-509-5p	CLIP-seq
MIRT1242443	hsa-miR-541	CLIP-seq
MIRT1242447	hsa-miR-654-5p	CLIP-seq
MIRT1242450	hsa-miR-922	CLIP-seq
MIRT2595629	hsa-miR-153	CLIP-seq
MIRT2595630	hsa-miR-3143	CLIP-seq
MIRT2595631	hsa-miR-3163	CLIP-seq
MIRT2595632	hsa-miR-448	CLIP-seq
MIRT2595633	hsa-miR-543	CLIP-seq
MIRT2595634	hsa-miR-548c-3p	CLIP-seq
MIRT2595635	hsa-miR-648	CLIP-seq
MIRT2595629	hsa-miR-153	CLIP-seq
MIRT2595630	hsa-miR-3143	CLIP-seq
MIRT2595631	hsa-miR-3163	CLIP-seq
MIRT2595632	hsa-miR-448	CLIP-seq
MIRT2595633	hsa-miR-543	CLIP-seq
MIRT2595634	hsa-miR-548c-3p	CLIP-seq
MIRT2595635	hsa-miR-648	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25500191, 27291868, 28325809, 33452816
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005764	Component	Lysosome	IDA	28325809
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0006914	Process	Autophagy	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0032418	Process	Lysosome localization	IDA	28325809
GO:0032418	Process	Lysosome localization	IEA
GO:0032418	Process	Lysosome localization	ISS
GO:0044754	Component	Autolysosome	IDA	28325809
GO:0045780	Process	Positive regulation of bone resorption	IEA
GO:0045780	Process	Positive regulation of bone resorption	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0061909	Process	Autophagosome-lysosome fusion	IMP	28325809
GO:0120281	Component	Autolysosome membrane	IEA
GO:1900029	Process	Positive regulation of ruffle assembly	IEA
GO:1900029	Process	Positive regulation of ruffle assembly	ISS
GO:1902774	Process	Late endosome to lysosome transport	IMP	28325809

MIM	HGNC	e!Ensembl
611466	29017	ENSG00000225190

Q9Y4G2

Protein name

Pleckstrin homology domain-containing family M member 1 (PH domain-containing family M member 1) (162 kDa adapter protein) (AP162)

Protein function

Acts as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Acts as a dual effector of RAB7A and ARL8B th

PDB

5DPR , 5DPS , 5DPT , 5DPW , 8JC5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02759	RUN	49 → 182	RUN domain	Family
PF13901	zf-RING_9	846 → 1048	Putative zinc-RING and/or ribbon	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in placenta, liver, prostate, thymus, spleen, ovary, colon, colon carcinoma and peripheral blood lymphocytes (PBL). Weakly expressed in brain, lung, kidney, and testis. No expression in heart, skeletal muscle, pancreas and sm

Sequence

MLSVVENGLDPQAAIPVIKKKLVGSVKALQKQYVSLDTVVTSEDGDANTMCSALEAVFIH
GLHAKHIRAEAGGKRKKSAHQKPLPQPVFWPLLKAVTHKHIISELEHLTFVNTDVGRCRA
WLRLALNDGLMECYLKLLLQEQARLHEYYQPTALLRDAEEGEFLLSFLQGLTSLSFELSY
KSAILNEWTLTPLALSGLCPLSELDPLSTSGAELQRKESLDSISHSSGSEDIEVHHSGHK
IRRNQKLTASSLSLDTASSSQLSCSLNSDSCLLQENGSKSPDHCEEPMSCDSDLGTANAE
DSDRSLQEVLLEFSKAQVNSVPTNGLSQETEIPTPQASLSLHGLNTSTYLHCEAPAEPLP
AQAASGTQDGVHVQEPRPQAPSPLDLQQPVESTSGQQPSSTVSETAREVGQGNGLQKAQA
HDGAGLKLVVSSPTSPKNKSWISEDDFYRPSREQPLESASDHPIASYRGTPGSRPGLHRH
FSQEPRKNCSLGALDQACVPSPGRRQAQAAPSQGHKSFRVVHRRQMGLSNPFRGLMKLGT
VERRGAMGIWKELFCELSPLEFRLYLSNEEHTCVENCSLLRCESVGPAHSDGRFELVFSG
KKLALRASSQDEAEDWLDRVREALQKVRPQQEDEWVNVQYPDQPEEPPEAPQGCLSPSDL
LSEPAALQGTQFDWSSAQVPEPDAIKESLLYLYMDRTWMPYIFSLSLEALKCFRIRNNEK
MLSDSHGVETIRDILPDTSLGGPSFFKIITAKAVLKLQAGNAEEAALWRDLVRKVLASYL
ETAEEAVTLGGSLDENCQEVLKFATRENGFLLQYLVAIPMEKGLDSQGCFCAGCSRQIGF
SFVRPKLCAFSGLYYCDICHQDDASVIPARIIHNWDLTKRPICRQALKFLTQIRAQPLIN
LQMVNASLYEHVERMHLIGRRREQLKLLGDYLGLCRSGALKELSKRLNHRNYLLESPHRF
SVADLQQIADGVYEGFLKALIEFASQHVYHCDLCTQRGFICQICQHHDIIFPFEFDTTVR
CAECKTVFHQSCQAVVKKGCPRCARRRKYQEQNIFA

Sequence length

1056

Interactions

View interactions

	KEGG
	Autophagy - animal Salmonella infection

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 Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive osteopetrosis 6	Pathogenic	rs786205055	RCV000000970	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopetrosis, autosomal dominant 3	Likely pathogenic; Pathogenic	rs1304090710, rs559224144, rs1567759023	RCV003989397 RCV000678395 RCV000678396	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive osteopetrosis 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of bone	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE OSTEOPETROSIS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS - INTERMEDIATE TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (38)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	GWASCAT_DG	28196072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	17997709	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	1375618	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23535648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23535648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23535648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intermediate osteopetrosis	Osteopetrosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29559929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	17404618, 19082854, 21054159, 27291868		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis	Osteopetrosis	LHGDN	17404618, 17997709		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis	Osteopetrosis	Pubtator	17997709, 20943950, 27291868, 32415263	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis	Osteopetrosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis	Osteopetrosis	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis - intermediate type	Osteopetrosis	ORPHANET_DG	17404618		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis mild autosomal recessive form	Osteopetrosis	Pubtator	17997709, 28816234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3	Osteopetrosis	UNIPROT_DG	17997709, 27291868		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3	Osteopetrosis	GENOMICS_ENGLAND_DG	17997709		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3	Osteopetrosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	ORPHANET_DG	17404618		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	GENOMICS_ENGLAND_DG	17997709		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosclerosis	Osteosclerosis	BEFREE	17997709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	Pubtator	17997709	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	23544013, 28346442		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASDB_DG	23544013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23544013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	GWASCAT_DG	28346442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30153072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	27291868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	19915575, 20070850, 21738487, 22438815		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASCAT_DG	20070850		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	20070850, 32066731, 35289213	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30153072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	29559929		★★★★★ ★☆☆☆☆ Found in Text Mining only

PLEKHM1 (pleckstrin homology and RUN domain containing M1)