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	27295
Gene name	PDZ and LIM domain 3
Gene symbol	PDLIM3
Synonyms (NCBI Gene)	ALP
Chromosome	4
Chromosome location	4q35.1
Summary	The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to coloca

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199979457	T>A,C	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs754882710	CT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant

177

Show/Hide all (177)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024819	hsa-miR-215-5p	Microarray	19074876
MIRT026792	hsa-miR-192-5p	Microarray	19074876
MIRT677469	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT677468	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT677467	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT677466	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT677465	hsa-miR-4635	HITS-CLIP	23824327
MIRT677464	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT677463	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT677462	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT677461	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT677460	hsa-miR-6131	HITS-CLIP	23824327
MIRT677459	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT677458	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT677457	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT677456	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT677455	hsa-miR-640	HITS-CLIP	23824327
MIRT677454	hsa-miR-548s	HITS-CLIP	23824327
MIRT677453	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT677452	hsa-miR-588	HITS-CLIP	23824327
MIRT677451	hsa-miR-4435	HITS-CLIP	23824327
MIRT677450	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT648858	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT648859	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT648857	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT648856	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT648855	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT648854	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT648853	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT648852	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT648851	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT648850	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT637779	hsa-miR-2278	HITS-CLIP	23824327
MIRT637778	hsa-miR-4519	HITS-CLIP	23824327
MIRT637777	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT637776	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT637775	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT637774	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT637773	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT637772	hsa-miR-3615	HITS-CLIP	23824327
MIRT637771	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT637770	hsa-miR-4284	HITS-CLIP	23824327
MIRT637769	hsa-miR-3650	HITS-CLIP	23824327
MIRT677469	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT677468	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT677467	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT677466	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT677465	hsa-miR-4635	HITS-CLIP	23824327
MIRT677464	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT677463	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT677462	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT677461	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT677460	hsa-miR-6131	HITS-CLIP	23824327
MIRT677459	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT677458	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT677457	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT677456	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT677455	hsa-miR-640	HITS-CLIP	23824327
MIRT677454	hsa-miR-548s	HITS-CLIP	23824327
MIRT677453	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT677452	hsa-miR-588	HITS-CLIP	23824327
MIRT677451	hsa-miR-4435	HITS-CLIP	23824327
MIRT677450	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT648858	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT648859	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT648857	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT648856	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT648855	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT648854	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT648853	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT648852	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT648851	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT648850	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT637779	hsa-miR-2278	HITS-CLIP	23824327
MIRT637778	hsa-miR-4519	HITS-CLIP	23824327
MIRT637777	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT637776	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT637775	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT637774	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT637773	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT637772	hsa-miR-3615	HITS-CLIP	23824327
MIRT637771	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT637770	hsa-miR-4284	HITS-CLIP	23824327
MIRT637769	hsa-miR-3650	HITS-CLIP	23824327
MIRT1222155	hsa-miR-1237	CLIP-seq
MIRT1222156	hsa-miR-1248	CLIP-seq
MIRT1222157	hsa-miR-1257	CLIP-seq
MIRT1222158	hsa-miR-1271	CLIP-seq
MIRT1222159	hsa-miR-1305	CLIP-seq
MIRT1222160	hsa-miR-1323	CLIP-seq
MIRT1222161	hsa-miR-137	CLIP-seq
MIRT1222162	hsa-miR-143	CLIP-seq
MIRT1222163	hsa-miR-186	CLIP-seq
MIRT1222164	hsa-miR-1913	CLIP-seq
MIRT1222165	hsa-miR-300	CLIP-seq
MIRT1222166	hsa-miR-3133	CLIP-seq
MIRT1222167	hsa-miR-3160-3p	CLIP-seq
MIRT1222168	hsa-miR-3167	CLIP-seq
MIRT1222169	hsa-miR-3177-5p	CLIP-seq
MIRT1222170	hsa-miR-324-3p	CLIP-seq
MIRT1222171	hsa-miR-3529	CLIP-seq
MIRT1222172	hsa-miR-3591-5p	CLIP-seq
MIRT1222173	hsa-miR-3607-5p	CLIP-seq
MIRT1222174	hsa-miR-3613-3p	CLIP-seq
MIRT1222175	hsa-miR-3681	CLIP-seq
MIRT1222176	hsa-miR-3689d	CLIP-seq
MIRT1222177	hsa-miR-379	CLIP-seq
MIRT1222178	hsa-miR-381	CLIP-seq
MIRT1222179	hsa-miR-409-3p	CLIP-seq
MIRT1222180	hsa-miR-421	CLIP-seq
MIRT1222181	hsa-miR-4280	CLIP-seq
MIRT1222182	hsa-miR-4330	CLIP-seq
MIRT1222183	hsa-miR-4433	CLIP-seq
MIRT1222184	hsa-miR-4443	CLIP-seq
MIRT1222185	hsa-miR-4451	CLIP-seq
MIRT1222186	hsa-miR-4452	CLIP-seq
MIRT1222187	hsa-miR-4487	CLIP-seq
MIRT1222188	hsa-miR-4501	CLIP-seq
MIRT1222189	hsa-miR-4504	CLIP-seq
MIRT1222190	hsa-miR-4514	CLIP-seq
MIRT1222191	hsa-miR-4536	CLIP-seq
MIRT1222192	hsa-miR-4640-5p	CLIP-seq
MIRT1222193	hsa-miR-4645-5p	CLIP-seq
MIRT1222194	hsa-miR-4650-3p	CLIP-seq
MIRT1222195	hsa-miR-4663	CLIP-seq
MIRT1222196	hsa-miR-4666-5p	CLIP-seq
MIRT1222197	hsa-miR-4673	CLIP-seq
MIRT1222198	hsa-miR-4692	CLIP-seq
MIRT1222199	hsa-miR-4693-3p	CLIP-seq
MIRT1222200	hsa-miR-4709-5p	CLIP-seq
MIRT1222201	hsa-miR-4726-5p	CLIP-seq
MIRT1222202	hsa-miR-4727-5p	CLIP-seq
MIRT1222203	hsa-miR-4731-3p	CLIP-seq
MIRT1222204	hsa-miR-4744	CLIP-seq
MIRT1222205	hsa-miR-4770	CLIP-seq
MIRT1222206	hsa-miR-4801	CLIP-seq
MIRT1222207	hsa-miR-500a	CLIP-seq
MIRT1222208	hsa-miR-542-3p	CLIP-seq
MIRT1222209	hsa-miR-548o	CLIP-seq
MIRT1222210	hsa-miR-558	CLIP-seq
MIRT1222211	hsa-miR-591	CLIP-seq
MIRT1222212	hsa-miR-642b	CLIP-seq
MIRT1222213	hsa-miR-759	CLIP-seq
MIRT1222214	hsa-miR-876-5p	CLIP-seq
MIRT1222215	hsa-miR-944	CLIP-seq
MIRT1222216	hsa-miR-96	CLIP-seq
MIRT1222155	hsa-miR-1237	CLIP-seq
MIRT1222156	hsa-miR-1248	CLIP-seq
MIRT1222164	hsa-miR-1913	CLIP-seq
MIRT2292706	hsa-miR-302a	CLIP-seq
MIRT2292707	hsa-miR-302b	CLIP-seq
MIRT2292708	hsa-miR-302c	CLIP-seq
MIRT2292709	hsa-miR-302d	CLIP-seq
MIRT2292710	hsa-miR-302e	CLIP-seq
MIRT2292711	hsa-miR-3130-3p	CLIP-seq
MIRT1222170	hsa-miR-324-3p	CLIP-seq
MIRT2292712	hsa-miR-372	CLIP-seq
MIRT2292713	hsa-miR-373	CLIP-seq
MIRT2292714	hsa-miR-4297	CLIP-seq
MIRT2292715	hsa-miR-4530	CLIP-seq
MIRT1222202	hsa-miR-4727-5p	CLIP-seq
MIRT2292716	hsa-miR-4768-3p	CLIP-seq
MIRT2292717	hsa-miR-4786-5p	CLIP-seq
MIRT2292718	hsa-miR-4793-3p	CLIP-seq
MIRT1222207	hsa-miR-500a	CLIP-seq
MIRT2292719	hsa-miR-519a	CLIP-seq
MIRT2292720	hsa-miR-519b-3p	CLIP-seq
MIRT2292721	hsa-miR-519c-3p	CLIP-seq
MIRT2292722	hsa-miR-520a-3p	CLIP-seq
MIRT2292723	hsa-miR-520b	CLIP-seq
MIRT2292724	hsa-miR-520c-3p	CLIP-seq
MIRT2292725	hsa-miR-520d-3p	CLIP-seq
MIRT2292726	hsa-miR-520e	CLIP-seq
MIRT2292727	hsa-miR-634	CLIP-seq
MIRT2292728	hsa-miR-665	CLIP-seq
MIRT1222213	hsa-miR-759	CLIP-seq
MIRT2292729	hsa-miR-942	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IBA
GO:0003779	Function	Actin binding	IBA
GO:0005515	Function	Protein binding	IPI	23414517, 25416956, 25910212, 31515488
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005912	Component	Adherens junction	IBA
GO:0007015	Process	Actin filament organization	IEA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008307	Function	Structural constituent of muscle	IEA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0031941	Component	Filamentous actin	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051371	Function	Muscle alpha-actinin binding	IBA
GO:0061061	Process	Muscle structure development	IBA

MIM	HGNC	e!Ensembl
605889	20767	ENSG00000154553

Q53GG5

Protein name

PDZ and LIM domain protein 3 (Actinin-associated LIM protein) (Alpha-actinin-2-associated LIM protein)

Protein function

May play a role in the organization of actin filament arrays within muscle cells.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00595	PDZ	3 → 81	PDZ domain	Domain
PF15936	DUF4749	184 → 272	Domain of unknown function (DUF4749)	Family
PF00412	LIM	294 → 349	LIM domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is highly expressed in differentiated skeletal muscle. Isoform 2 is heart-specific. {ECO:0000269|PubMed:9334352}.

Sequence

MPQTVILPGPAPWGFRLSGGIDFNQPLVITRITPGSKAAAANLCPGDVILAIDGFGTESM
THADAQDRIKAAAHQLCLKIDRGETHLWSPQVSEDGKAHPFKINLESEPQDGNYFEHKHN
IRPKPFVIPGRSSGCSTPSGIDCGSGRSTPSSVSTVSTICPGDLKVAAKLAPNIPLEMEL
PGVKIVHAQFNTPMQLYSDDNIMETLQGQVSTALGETPLMSEPTASVPPESDVYRMLHDN
RNEPTQPRQSGSFRVLQGMVDDGSDDRPAGTRSVRAPVTKVHGGSGGAQRMPLCDKCGSG
IVGAVVKARDKYRHPECFVCADCNLNLKQKGYFFIEGELYCETHARARTKPPEGYDTVTL
YPKA

Sequence length

364

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

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 (13)

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.
Cardiomyopathy	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDLIM3-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restrictive cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (93)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acromegaly	Acromegaly	BEFREE	29895074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult hypophosphatasia (disorder)	Hypophosphatasia	BEFREE	15629439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30290707, 31690171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29880011, 30415492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	30599794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	27881006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	30728842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	30123093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28900285, 30706358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36813922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36177006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20804919, 28835603, 29683727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	19161154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	31424159, 35647201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	31424159		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	17254821, 31424159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31302425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	29223554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28267673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis, Extrahepatic	Cholestasis	BEFREE	31117415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	2745460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30125307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25037223, 9221854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35991839	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19373952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	27806633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24909115, 25241253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31088856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	24276437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28454919, 31658881, 31671940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	35378934	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36339397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	11121210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31010354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25919795, 29174446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	2745460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	19373952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	31838773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	17395561, 26797772, 28436937, 30289311, 31146036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	30290707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	17395561, 28687737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28917868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	28687737, 30289299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	20801532, 9334352		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	18661088, 3665125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	18661088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	10451522, 10679946, 24022022, 2605956, 2705456, 28000043, 28436937, 30289311, 3174660, 8964842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile hypophosphatasia	Hypophosphatasia	BEFREE	12412800, 15660230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	18661088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	28808392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	31760208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20804919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	20804919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25369784, 26753954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30125307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	31838773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	20804919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28900285, 30706358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31117415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28835603, 29683727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18976018, 31028291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25037223, 9221854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	36813922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	19888305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	10063829, 11238905		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	31837116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	21549096		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	21549096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10959091, 25119103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	17395561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31690171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	26270641, 29964102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	18661088, 28620614, 29786747, 30338786, 30638953, 31452264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28122543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pleomorphic Lipoma	Lipoma	BEFREE	10959091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	14687829, 29193593, 31714880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31028291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	30864863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24909115, 25241253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	34285060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12846052, 30864863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	BEFREE	25753363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	BEFREE	25753363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	40243891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31010354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35647201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subcortical Band Heterotopia	Subcortical Band Heterotopia	BEFREE	30643535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37355885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
TROPICAL CALCIFIC PANCREATITIS	TROPICAL CALCIFIC PANCREATITIS	BEFREE	29269312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	25736332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	28808392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	30599794		★★★★★ ★☆☆☆☆ Found in Text Mining only

PDLIM3 (PDZ and LIM domain 3)