SLC7A7 (solute carrier family 7 member 7)

Gene

• Entrez ID: 9056
• Gene name: Solute carrier family 7 member 7
• Gene symbol: SLC7A7
• Synonyms (NCBI Gene): LAT3, LPI, MOP-2, Y+LAT1, y+LAT-1
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transpo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11568437	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs72552272	A>C	Pathogenic	Coding sequence variant, missense variant
rs121908676	T>G	Pathogenic	Missense variant, initiator codon variant
rs121908677	C>A	Pathogenic	Missense variant, coding sequence variant
rs121908678	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs121908679	C>T	Pathogenic	Stop gained, coding sequence variant
rs146582474	T>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs386833792	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833793	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833794	GAAA>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs386833796	CCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs386833797	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833798	->TAGTT	Likely-pathogenic	Coding sequence variant, stop gained
rs386833799	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833800	AAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs386833801	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833802	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833803	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833804	G>C,T	Likely-pathogenic	Coding sequence variant, stop gained
rs386833805	->TGAT	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs386833806	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs386833807	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs386833808	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs386833809	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833810	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833811	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs386833812	GAGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833813	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833814	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833815	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833816	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833817	C>T	Likely-pathogenic	Splice donor variant
rs386833818	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833819	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833820	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833821	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs386833822	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs386833823	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833824	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833825	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833826	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833827	C>A	Likely-pathogenic	Splice donor variant
rs386833828	C>A	Likely-pathogenic	Splice donor variant
rs386833829	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs771254387	G>A,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant
rs1290445670	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555320639	A>-	Pathogenic	Splice donor variant
rs1594944871	TCT>AATGG	Pathogenic	Splice acceptor variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT531292	hsa-miR-5586-5p	PAR-CLIP	22012620
MIRT531291	hsa-miR-3065-3p	PAR-CLIP	22012620
MIRT531290	hsa-miR-4530	PAR-CLIP	22012620
MIRT531289	hsa-miR-338-3p	PAR-CLIP	22012620
MIRT531288	hsa-miR-4679	PAR-CLIP	22012620
MIRT531287	hsa-miR-6804-3p	PAR-CLIP	22012620
MIRT531286	hsa-miR-3689a-5p	PAR-CLIP	22012620
MIRT531285	hsa-miR-3689b-5p	PAR-CLIP	22012620
MIRT531284	hsa-miR-3689e	PAR-CLIP	22012620
MIRT531283	hsa-miR-3689f	PAR-CLIP	22012620
MIRT531282	hsa-miR-5701	PAR-CLIP	22012620
MIRT531281	hsa-miR-196a-5p	PAR-CLIP	22012620
MIRT531292	hsa-miR-5586-5p	PAR-CLIP	22012620
MIRT531291	hsa-miR-3065-3p	PAR-CLIP	22012620
MIRT531290	hsa-miR-4530	PAR-CLIP	22012620
MIRT531289	hsa-miR-338-3p	PAR-CLIP	22012620
MIRT531288	hsa-miR-4679	PAR-CLIP	22012620
MIRT531287	hsa-miR-6804-3p	PAR-CLIP	22012620
MIRT531286	hsa-miR-3689a-5p	PAR-CLIP	22012620
MIRT531285	hsa-miR-3689b-5p	PAR-CLIP	22012620
MIRT531284	hsa-miR-3689e	PAR-CLIP	22012620
MIRT531283	hsa-miR-3689f	PAR-CLIP	22012620
MIRT531282	hsa-miR-5701	PAR-CLIP	22012620
MIRT531281	hsa-miR-196a-5p	PAR-CLIP	22012620
MIRT1368353	hsa-miR-3613-3p	CLIP-seq
MIRT1368354	hsa-miR-4428	CLIP-seq
MIRT1368355	hsa-miR-4509	CLIP-seq
MIRT1368356	hsa-miR-4744	CLIP-seq
MIRT1368357	hsa-miR-548n	CLIP-seq
MIRT1368358	hsa-miR-579	CLIP-seq
MIRT1368359	hsa-miR-593	CLIP-seq
MIRT1368360	hsa-miR-607	CLIP-seq
MIRT1368355	hsa-miR-4509	CLIP-seq
MIRT1368356	hsa-miR-4744	CLIP-seq
MIRT1368359	hsa-miR-593	CLIP-seq
MIRT2626984	hsa-miR-1299	CLIP-seq
MIRT2626985	hsa-miR-144	CLIP-seq
MIRT2626986	hsa-miR-205	CLIP-seq
MIRT2626987	hsa-miR-3127-3p	CLIP-seq
MIRT2626988	hsa-miR-3668	CLIP-seq
MIRT2626989	hsa-miR-4268	CLIP-seq
MIRT2626990	hsa-miR-4286	CLIP-seq
MIRT2626991	hsa-miR-4289	CLIP-seq
MIRT2626992	hsa-miR-4448	CLIP-seq
MIRT2626993	hsa-miR-4646-3p	CLIP-seq
MIRT2626994	hsa-miR-4704-3p	CLIP-seq
MIRT1368357	hsa-miR-548n	CLIP-seq
MIRT2626995	hsa-miR-548p	CLIP-seq
MIRT2626996	hsa-miR-548t	CLIP-seq
MIRT2626997	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000821	Process	Regulation of arginine metabolic process	IBA
GO:0000821	Process	Regulation of arginine metabolic process	IEA
GO:0003333	Process	Amino acid transmembrane transport	IBA
GO:0005515	Function	Protein binding	IPI	9878049
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9829974
GO:0006865	Process	Amino acid transport	IEA
GO:0015174	Function	Basic amino acid transmembrane transporter activity	IBA
GO:0015174	Function	Basic amino acid transmembrane transporter activity	IEA
GO:0015179	Function	L-amino acid transmembrane transporter activity	IBA
GO:0015820	Process	L-leucine transport	IDA	9829974, 9878049
GO:0015820	Process	L-leucine transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	15756301
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0061459	Function	L-arginine transmembrane transporter activity	ISS
GO:1903826	Process	L-arginine transmembrane transport	IDA	9829974
GO:1903826	Process	L-arginine transmembrane transport	IEA
GO:1990822	Process	Basic amino acid transmembrane transport	TAS	9829974

Other IDs

• MIM: 603593
• HGNC: 11065
• e!Ensembl: ENSG00000155465

Protein

• UniProt ID: Q9UM01
• Protein name: Y+L amino acid transporter 1 (Monocyte amino acid permease 2) (MOP-2) (Solute carrier family 7 member 7) (y(+)L-type amino acid transporter 1) (Y+LAT1) (y+LAT-1)
• Protein function: Heterodimer with SLC3A2, that functions as an antiporter which operates as an efflux route by exporting cationic amino acids from inside the cells in exchange with neutral amino acids plus sodium ions and may participate in nitric oxide synthesi
• PDB: 8XXI, 8XYJ, 8YLP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13520	AA_permease_2	37 → 461	Amino acid permease	Family

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in kidney and peripheral blood leukocytes (PubMed:9829974). Weaker expression is observed in lung, heart, placenta, spleen, testis and small intestine (PubMed:9829974). Expressed in normal fibroblasts and those from
• Sequence:

  MVDSTEYEVASQPEVETSPLGDGASPGPEQVKLKKEISLLNGVCLIVGNMIGSGIFVSPK
  GVLIYSASFGLSLVIWAVGGLFSVFGALCYAELGTTIKKSGASYAYILEAFGGFLAFIRL
  WTSLLIIEPTSQAIIAITFANYMVQPLFPSCFAPYAASRLLAAACICLLTFINCAYVKWG
  TLVQDIFTYAKVLALIAVIVAGIVRLGQGASTHFENSFEGSSFAVGDIALALYSALFSYS
  GWDTLNYVTEEIKNPERNLPLSIGISMPIVTIIYILTNVAYYTVLDMRDILASDAVAVTF
  ADQIFGIFNWIIPLSVALSCFGGLNASIVAASRLFFVGSREGHLPDAICMIHVERFTPVP
  SLLFNGIMALIYLCVEDIFQLINYYSFSYWFFVGLSIVGQLYLRWKEPDRPRPLKLSVFF
  PIVFCLCTIFLVAVPLYSDTINSLIGIAIALSGLPFYFLIIRVPEHKRPLYLRRIVGSAT
  RYLQVLCMSVAAEMDLEDGGEMPKQRDPKSN

• Sequence length: 511

Pathways

KEGG:

Protein digestion and absorption

Reactome:

Basigin interactions
Amino acid transport across the plasma membrane
Defective SLC7A7 causes lysinuric protein intolerance (LPI)

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autoinflammatory syndrome	Pathogenic	rs121908679	RCV002262560	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lysinuric protein intolerance	Likely pathogenic; Pathogenic	rs774080549, rs1264298481, rs1489021418, rs2139383552, rs2139383657, rs773357652, rs2139388749, rs2139394686, rs748127544, rs2039339219, rs2039344714, rs2139387978, rs2038542991, rs2138662323, rs2139397147, rs2139394672, rs1414333836, rs2138663895, rs2038594225, rs2039349935, rs1029500488, rs2139383000, rs386833822, rs769721689, rs1254380334, rs121908676, rs2501977529, rs2501978400, rs2501835633, rs2501831752, rs2501842149, rs2501835987, rs2501864551, rs763739193, rs72552272, rs121908678, rs121908679, rs386833827, rs2501974171, rs1479668615, rs2501836317, rs2501977415, rs2501832595, rs2501863948, rs2501847126, rs2501841902, rs2501860374, rs2501977813, rs2501860074, rs2501977684, rs2501829507, rs2501974273, rs2501844566, rs2501844440, rs2501975297, rs2501975599, rs2501842233, rs386833804, rs2501977331, rs2501976760, rs949830349, rs2501832390, rs2501842561, rs2501978226, rs2501977003, rs1271213967, rs2501847136, rs2501975835, rs2501844173, rs2501832728, rs2501863593, rs1354004604, rs1261517099, rs2501833361, rs915583102, rs2501975686, rs2501832537, rs2501841517, rs2501833115, rs1555320639, rs771254387, rs1290445670, rs1594944871, rs386833794, rs386833796, rs386833797, rs386833798, rs386833799, rs386833800, rs386833801, rs386833803, rs386833805, rs386833806, rs386833807, rs386833808, rs386833809, rs386833811, rs386833812, rs386833813, rs386833814, rs386833816, rs386833817, rs386833818, rs386833819, rs386833821, rs386833823, rs386833824, rs386833826, rs146582474, rs386833828, rs386833829, rs1355745932, rs2038664064, rs2039336515, rs752263234, rs2038690553	RCV001335669 RCV001378639 RCV003472949 RCV001383305 RCV001384193 RCV001384098 RCV001389484 RCV001382771 RCV001390016 RCV001380323 RCV001381435 RCV001867137 RCV002030983 RCV002037666 RCV001931407 RCV002007271 RCV001899525 RCV002000223 RCV001924731 RCV001885834 RCV001982912 RCV001959016 RCV001892901 RCV001983019 RCV003062615 RCV003072378 RCV002614213 RCV002791552 RCV002819440 RCV002815271 RCV002838209 RCV002894057 RCV002880492 RCV002894604 RCV000006586 RCV000006587 RCV000006590 RCV000006592 RCV003047488 RCV003046985 RCV003234623 RCV003472947 RCV003472948 RCV003472950 RCV003472951 RCV003472952 RCV003472953 RCV003472954 RCV003472955 RCV003474022 RCV003474023 RCV003474024 RCV003474025 RCV003474026 RCV003474027 RCV003474028 RCV003474029 RCV003474030 RCV003474031 RCV003474032 RCV003474033 RCV003474034 RCV003474035 RCV003474036 RCV003508095 RCV003508251 RCV003508866 RCV003507075 RCV003507889 RCV003616271 RCV003616618 RCV003616711 RCV003616974 RCV003616886 RCV003617141 RCV003615541 RCV003862444 RCV003878361 RCV003990103 RCV004573648 RCV004573649 RCV004573650 RCV000501922 RCV000680100 RCV000702454 RCV000801183 RCV000049759 RCV000049761 RCV000049762 RCV000049763 RCV000049764 RCV000049765 RCV000049766 RCV000049768 RCV000049769 RCV000049770 RCV000049771 RCV000049772 RCV000049773 RCV000049774 RCV000049776 RCV000049777 RCV000049778 RCV000049779 RCV000049781 RCV000049782 RCV000049783 RCV000049784 RCV000049786 RCV000049787 RCV000049788 RCV000049789 RCV000049790 RCV000049792 RCV000049793 RCV000049794 RCV000049795 RCV000049796 RCV001007644 RCV001065675 RCV001054857 RCV001218231 RCV001225885 RCV001232143	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC7A7-related disorder	Likely pathogenic; Pathogenic	rs774080549, rs2501842561, rs386833822	RCV003405563 RCV003402760 RCV003415815	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMINO ACID METABOLISM, INBORN ERRORS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amino Acid Metabolism, Inborn Errors	Disorder of amino acid metabolism	CTD_human_DG	11544277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amino Acid Metabolism, Inherited Disorders	Inherited Errors of Amino Acid Metabolism	CTD_human_DG	11544277		★☆☆☆☆ Found in Text Mining only
Amyloid nephropathy	Amyloid Nephropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	22876067	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	31649349		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	27567650	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	29938775	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	29938775		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	23542076		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24168110		★☆☆☆☆ Found in Text Mining only
Coproporphyria Hereditary	Hereditary coproporphyria	Pubtator	35669728	Associate	★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystinuria	Cystinuria	BEFREE	11377971, 15772300		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28208654		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28208654		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37071001	Associate	★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Food intolerance (disorder)	Food Intolerance	BEFREE	31705628		★☆☆☆☆ Found in Text Mining only
Glaucoma, Suspect	Glaucoma	BEFREE	30543659		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23408368		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23408368		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23975734, 28510245		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23975734, 28510245	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	35964089	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic amyloidosis	Hepatic amyloidosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Histiocytosis haematophagic	Histiocytosis Haematophagic	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperammonemia	Hyperammonemia	Pubtator	22876067, 35964089	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperprolinemia	Hyperprolinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	31705628	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	26210182		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	15877200		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	23542076		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	31705628	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35669728	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	2443354		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	32542393	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11074541		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	22855608		★☆☆☆☆ Found in Text Mining only
Lysinuric Protein Intolerance	Lysinuric Protein Intolerance	UNIPROT_DG	10080182, 10631139, 10655553, 12402335, 15756301, 15776427, 17764084, 9829974		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lysinuric Protein Intolerance	Lysinuric Protein Intolerance	BEFREE	10080183, 10364825, 10631139, 10655553, 10737982, 11078698, 11377971, 11544277, 12402335, 12820699, 15050971, 15756301, 15772300, 15877200, 17764084, 18716612, 21110863, 22221392, 22402328, 22876067, 23542076, 23940088, 28057010, 28087478, 29058386, 29616026, 30832686, 31211457, 31213652, 31427715, 31705628, 6776014, 9829974		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lysinuric Protein Intolerance	Lysinuric Protein Intolerance	CLINVAR_DG	10655553, 12402335		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lysinuric protein intolerance	Lysinuric Protein Intolerance	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lysinuric Protein Intolerance	Lysinuric Protein Intolerance	GENOMICS_ENGLAND_DG	25335805, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lysinuric Protein Intolerance	Lysinuric Protein Intolerance	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22007000, 24052624, 31345230		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23975734		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	38218802	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24052624		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral aversion	Oral aversion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	31705628	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	38218802	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30025393		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22007000, 24052624, 31345230		★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	21110863, 26210182		★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only