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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64116
Gene name	Solute carrier family 39 member 8
Gene symbol	SLC39A8
Synonyms (NCBI Gene)	BIGM103CDG2NLZT-Hs6PP3105ZIP8
Chromosome	4
Chromosome location	4q24
Summary	This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs373562040	C>A,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs778210210	C>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs779241085	C>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs864309659	A>T	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs864309660	C>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057521727	G>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained

Show/Hide all (79)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024337	hsa-miR-215-5p	Microarray	19074876
MIRT026917	hsa-miR-192-5p	Microarray	19074876
MIRT043292	hsa-miR-331-3p	CLASH	23622248
MIRT038538	hsa-miR-30c-1-3p	CLASH	23622248
MIRT052741	hsa-miR-1260b	CLASH	23622248
MIRT054483	hsa-miR-488-3p	Luciferase reporter assayImmunoblottingqRT-PCR	23688035
MIRT1363693	hsa-miR-1299	CLIP-seq
MIRT1363694	hsa-miR-1305	CLIP-seq
MIRT1363695	hsa-miR-139-5p	CLIP-seq
MIRT1363696	hsa-miR-378	CLIP-seq
MIRT1363697	hsa-miR-378b	CLIP-seq
MIRT1363698	hsa-miR-378c	CLIP-seq
MIRT1363699	hsa-miR-378d	CLIP-seq
MIRT1363700	hsa-miR-378e	CLIP-seq
MIRT1363701	hsa-miR-378f	CLIP-seq
MIRT1363702	hsa-miR-378h	CLIP-seq
MIRT1363703	hsa-miR-378i	CLIP-seq
MIRT1363704	hsa-miR-422a	CLIP-seq
MIRT1363705	hsa-miR-4535	CLIP-seq
MIRT1363706	hsa-miR-4638-3p	CLIP-seq
MIRT1363707	hsa-miR-4761-5p	CLIP-seq
MIRT1363708	hsa-miR-4782-5p	CLIP-seq
MIRT1363709	hsa-miR-488	CLIP-seq
MIRT1363710	hsa-miR-492	CLIP-seq
MIRT1363711	hsa-miR-498	CLIP-seq
MIRT1363712	hsa-miR-516b	CLIP-seq
MIRT1363713	hsa-miR-582-5p	CLIP-seq
MIRT1363714	hsa-miR-640	CLIP-seq
MIRT1363715	hsa-miR-1276	CLIP-seq
MIRT1363716	hsa-miR-1976	CLIP-seq
MIRT1363717	hsa-miR-299-3p	CLIP-seq
MIRT1363718	hsa-miR-370	CLIP-seq
MIRT1363719	hsa-miR-4274	CLIP-seq
MIRT1363720	hsa-miR-4519	CLIP-seq
MIRT1363721	hsa-miR-4648	CLIP-seq
MIRT1363722	hsa-miR-4654	CLIP-seq
MIRT1363723	hsa-miR-4661-5p	CLIP-seq
MIRT1363724	hsa-miR-4769-5p	CLIP-seq
MIRT1363725	hsa-miR-1200	CLIP-seq
MIRT1363726	hsa-miR-3117-5p	CLIP-seq
MIRT1363727	hsa-miR-380	CLIP-seq
MIRT1363728	hsa-miR-4289	CLIP-seq
MIRT1363729	hsa-miR-4324	CLIP-seq
MIRT1363730	hsa-miR-4330	CLIP-seq
MIRT1363731	hsa-miR-4494	CLIP-seq
MIRT1363732	hsa-miR-4499	CLIP-seq
MIRT1363733	hsa-miR-4513	CLIP-seq
MIRT1363734	hsa-miR-4645-5p	CLIP-seq
MIRT1363735	hsa-miR-4673	CLIP-seq
MIRT1363736	hsa-miR-499a-5p	CLIP-seq
MIRT1363737	hsa-miR-544b	CLIP-seq
MIRT2107869	hsa-miR-127-5p	CLIP-seq
MIRT2107870	hsa-miR-3065-5p	CLIP-seq
MIRT1363726	hsa-miR-3117-5p	CLIP-seq
MIRT2107871	hsa-miR-570	CLIP-seq
MIRT2331683	hsa-miR-3120-3p	CLIP-seq
MIRT2331684	hsa-miR-3171	CLIP-seq
MIRT1363719	hsa-miR-4274	CLIP-seq
MIRT2394784	hsa-miR-3591-3p	CLIP-seq
MIRT2394785	hsa-miR-4477a	CLIP-seq
MIRT2107869	hsa-miR-127-5p	CLIP-seq
MIRT2107870	hsa-miR-3065-5p	CLIP-seq
MIRT1363726	hsa-miR-3117-5p	CLIP-seq
MIRT2107871	hsa-miR-570	CLIP-seq
MIRT1363713	hsa-miR-582-5p	CLIP-seq
MIRT2691211	hsa-miR-1294	CLIP-seq
MIRT2691212	hsa-miR-3184	CLIP-seq
MIRT2691213	hsa-miR-342-5p	CLIP-seq
MIRT2691214	hsa-miR-423-5p	CLIP-seq
MIRT2691215	hsa-miR-4316	CLIP-seq
MIRT2691216	hsa-miR-452	CLIP-seq
MIRT2691217	hsa-miR-4664-5p	CLIP-seq
MIRT2691218	hsa-miR-4676-3p	CLIP-seq
MIRT2691219	hsa-miR-4694-5p	CLIP-seq
MIRT2691220	hsa-miR-4727-5p	CLIP-seq
MIRT2691221	hsa-miR-4769-3p	CLIP-seq
MIRT2691222	hsa-miR-4803	CLIP-seq
MIRT2691223	hsa-miR-634	CLIP-seq
MIRT2691224	hsa-miR-758	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SP1	Activation	18556457

Show/Hide all (70)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005385	Function	Zinc ion transmembrane transporter activity	IBA
GO:0005385	Function	Zinc ion transmembrane transporter activity	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	18390834, 19401385
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18390834
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	29337306
GO:0006487	Process	Protein N-linked glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	ISS
GO:0006525	Process	Arginine metabolic process	IEA
GO:0006525	Process	Arginine metabolic process	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006824	Process	Cobalt ion transport	IEA
GO:0006824	Process	Cobalt ion transport	ISS
GO:0006829	Process	Zinc ion transport	IEA
GO:0006829	Process	Zinc ion transport	IMP	12504855
GO:0006882	Process	Intracellular zinc ion homeostasis	IDA	19401385
GO:0006882	Process	Intracellular zinc ion homeostasis	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015694	Process	Mercury ion transport	IEA
GO:0015701	Process	Bicarbonate transport	IEA
GO:0015701	Process	Bicarbonate transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	31699897
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	31699897
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030001	Process	Metal ion transport	IEA
GO:0030003	Process	Intracellular monoatomic cation homeostasis	IBA
GO:0030026	Process	Intracellular manganese ion homeostasis	IEA
GO:0030026	Process	Intracellular manganese ion homeostasis	ISS
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	IMP	29337306
GO:0031090	Component	Organelle membrane	IDA	12504855
GO:0042391	Process	Regulation of membrane potential	IMP	18390834
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IMP	23403290
GO:0046873	Function	Metal ion transmembrane transporter activity	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IMP	23403290
GO:0055085	Process	Transmembrane transport	IEA
GO:0061757	Process	Leukocyte adhesion to arterial endothelial cell	IEA
GO:0061757	Process	Leukocyte adhesion to arterial endothelial cell	ISS
GO:0070574	Process	Cadmium ion transmembrane transport	IDA	27466201
GO:0070574	Process	Cadmium ion transmembrane transport	IEA
GO:0070574	Process	Cadmium ion transmembrane transport	IEA
GO:0071421	Process	Manganese ion transmembrane transport	IEA
GO:0071421	Process	Manganese ion transmembrane transport	IMP	28481222, 29453449, 31699897
GO:0071577	Process	Zinc ion transmembrane transport	IDA	19401385
GO:0071577	Process	Zinc ion transmembrane transport	IEA
GO:0071577	Process	Zinc ion transmembrane transport	IMP	18390834
GO:0071577	Process	Zinc ion transmembrane transport	TAS
GO:0071578	Process	Zinc ion import across plasma membrane	IBA
GO:0071578	Process	Zinc ion import across plasma membrane	IEA
GO:0071578	Process	Zinc ion import across plasma membrane	IMP	23403290, 29337306
GO:0097080	Process	Plasma membrane selenite transport	IDA	27166256
GO:0097080	Process	Plasma membrane selenite transport	IEA
GO:0098711	Process	Iron ion import across plasma membrane	IDA	22898811
GO:0098711	Process	Iron ion import across plasma membrane	IEA
GO:0098849	Process	Cellular detoxification of cadmium ion	IMP	27466201
GO:0140410	Function	Monoatomic cation:bicarbonate symporter activity	IBA
GO:0140410	Function	Monoatomic cation:bicarbonate symporter activity	IDA	22898811, 27166256, 27466201, 28481222, 29453449, 31699897
GO:0140410	Function	Monoatomic cation:bicarbonate symporter activity	IEA
GO:0140412	Function	Zinc:bicarbonate symporter activity	IEA
GO:1990079	Process	Cartilage homeostasis	IEA
GO:1990079	Process	Cartilage homeostasis	ISS
GO:1990540	Process	Mitochondrial manganese ion transmembrane transport	IMP	29453449

MIM	HGNC	e!Ensembl
608732	20862	ENSG00000138821

Q9C0K1

Protein name

Metal cation symporter ZIP8 (BCG-induced integral membrane protein in monocyte clone 103 protein) (LIV-1 subfamily of ZIP zinc transporter 6) (LZT-Hs6) (Solute carrier family 39 member 8) (Zrt- and Irt-like protein 8) (ZIP-8)

Protein function

Electroneutral divalent metal cation:bicarbonate symporter of the plasma membrane mediating the cellular uptake of zinc and manganese, two divalent metal cations important for development, tissue homeostasis and immunity (PubMed:12504855, PubMed

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02535	Zip	126 → 451	ZIP Zinc transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:12504855, PubMed:22898811, PubMed:28056086, PubMed:31699897). Expressed in thymus, placenta, lung, liver, pancreas, salivary gland and, to a lower extent, in spleen, testis, ovary, small intestine, colon,

Sequence

MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASR
VGVPEPGQLHFNQCLTAEEIFSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHK
TRPSHSEVWGYGFLSVTIINLASLLGLILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQ
LIPEAFGFDPKVDSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQE
KTHQPKALPAINGVTCYANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEI
GTIAWMITLCDALHNFIDGLAIGASCTLSLLQGLSTSIAILCEEFPHELGDFVILLNAGM
STRQALLFNFLSACSCYVGLAFGILVGNNFAPNIIFALAGGMFLYISLADMFPEMNDMLR
EKVTGRKTDFTFFMIQNAGMLTGFTAILLITLYAGEIELE

Sequence length

460

Interactions

View interactions

	KEGG		Reactome
	Ferroptosis Alzheimer disease Parkinson disease		Zinc influx into cells by the SLC39 gene family

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
SLC39A8-CDG	Likely pathogenic; Pathogenic	rs1732173818, rs1734625225, rs2149060093, rs142863074, rs778210210, rs864309659, rs1444255127	RCV001332454 RCV001332455 RCV001580614 RCV002246724 RCV000203234 RCV000203240 RCV001089507 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (61)

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
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory bowel disease 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ 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
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTATOR CUFF TEAR	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC39A8-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SOLUTE CARRIER FAMILY 39 MEMBER 8 CONGENITAL DISORDER OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERTEBRAL COLUMN DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (103)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30301978, 31513097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30013175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23372645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23372645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	27790247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31233999		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	23921484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32744318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32247823, 32393195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28296976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21525204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	26637978, 27995398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	26637978, 34246313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	27790247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	30696806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	26637979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23516545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type II	Congenital disorder of glycosylation	Pubtator	26637979, 29453449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type In	Congenital disorder of glycosylation	Pubtator	34246313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii	Congenital disorder of glycosylation	BEFREE	29453449		★★★★★ ★☆☆☆☆ Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	26637978, 26637979, 27604308, 29903433		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	Congenital disorder of glycosylation	ORPHANET_DG	26637978, 26637979		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	Congenital disorder of glycosylation	UNIPROT_DG	26637978, 26637979		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	Congenital disorder of glycosylation	BEFREE	31089831		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	Congenital disorder of glycosylation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	Congenital disorder of glycosylation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type In	Congenital disorder of glycosylation	BEFREE	27995398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	26637979, 32852845, 34246313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	27995398, 28749473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29333637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	27790247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	27492617, 30703110, 31151823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	27492617, 30703110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous syndactyly of toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23688035, 24529376, 26903440, 27480933, 28224461, 31521203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASCAT_DG	30664745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	Pubtator	30696806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	30696806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34246313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	27790247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	27790247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	BEFREE	23921484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	29382362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	31089831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23595627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	26637979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	27790247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	29333637		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	28303424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	26471164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26006263	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	GWASDB_DG	21909115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	21909115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	40022042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30703110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	30703110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27995398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	30696806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	29337306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	29453449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	29453449, 32852845, 34246313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30342059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	29070082	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29070082, 31521203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23921484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	27790247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	26637978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	32247823	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	27995398, 29453449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29453449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23516545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34246313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31089831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29749445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32915786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26006263, 27492617, 32788640, 34872017	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	33658057	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27182965		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	27182965	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Profound global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	26637979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26006263, 27182965, 28557351, 30649180, 30696806, 31533672		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	26006263, 27182965, 27492617, 30696806	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 29483656		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	26637979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	21525204	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	21525204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29070082	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SLC39A8-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spasms Infantile	Infantile spasms	Pubtator	26637979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sudden episodic apnea	Sudden episodic apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC39A8 (solute carrier family 39 member 8)