SLC3A1 (solute carrier family 3 member 1)

Gene

• Entrez ID: 6519
• Gene name: Solute carrier family 3 member 1
• Gene symbol: SLC3A1
• Synonyms (NCBI Gene): ATR1, CSNU1, D2H, NBAT, RBAT
• Chromosome: 2
• Chromosome location: 2p21
• Summary: This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs114640930	C>G,T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs121912691	T>A,C	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs121912694	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912697	G>A	Pathogenic	Coding sequence variant, missense variant
rs184648701	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs200483989	C>T	Pathogenic	Coding sequence variant, stop gained
rs201502095	C>A,G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs368554884	C>G,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs373176089	C>T	Pathogenic	Coding sequence variant, missense variant
rs375399468	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs387907276	T>A,G	Pathogenic	Coding sequence variant, missense variant
rs567478582	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs758627758	T>A,C	Pathogenic	Splice donor variant
rs768467260	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs769712061	G>A,T	Pathogenic	Splice acceptor variant
rs778000327	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs779932118	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs779941675	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044609	->TG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886042834	G>A,T	Pathogenic	Splice donor variant
rs935314238	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1553344107	->ATGCACGACATTGTCC	Pathogenic	Frameshift variant, coding sequence variant
rs1558450604	T>G	Likely-pathogenic	Splice donor variant
rs1558455633	G>T	Likely-pathogenic	Splice acceptor variant
rs1558455640	T>G	Likely-pathogenic	Stop gained, coding sequence variant
rs1572804699	A>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT443002	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT443001	hsa-miR-382-5p	PAR-CLIP	22100165
MIRT443002	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT443001	hsa-miR-382-5p	PAR-CLIP	22100165
MIRT2108036	hsa-miR-199a-5p	CLIP-seq
MIRT2108037	hsa-miR-199b-5p	CLIP-seq
MIRT2108038	hsa-miR-4711-3p	CLIP-seq
MIRT2459759	hsa-miR-1236	CLIP-seq
MIRT2459760	hsa-miR-18a	CLIP-seq
MIRT2459761	hsa-miR-18b	CLIP-seq
MIRT2108036	hsa-miR-199a-5p	CLIP-seq
MIRT2108037	hsa-miR-199b-5p	CLIP-seq
MIRT2459762	hsa-miR-203	CLIP-seq
MIRT2108038	hsa-miR-4711-3p	CLIP-seq
MIRT2459763	hsa-miR-4735-3p	CLIP-seq
MIRT2459764	hsa-miR-548m	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PAX8	Activation	15673291

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12167606, 32494597
GO:0005774	Component	Vacuolar membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8054986
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006865	Process	Amino acid transport	IBA
GO:0006865	Process	Amino acid transport	IEA
GO:0006865	Process	Amino acid transport	TAS	10799513
GO:0010467	Process	Gene expression	IEA
GO:0015171	Function	Amino acid transmembrane transporter activity	TAS	10799513
GO:0015174	Function	Basic amino acid transmembrane transporter activity	TAS	8054986
GO:0015184	Function	L-cystine transmembrane transporter activity	TAS	8054986
GO:0015802	Process	Basic amino acid transport	TAS	8054986
GO:0015810	Process	Aspartate transmembrane transport	IEA
GO:0015811	Process	L-cystine transport	IEA
GO:0015811	Process	L-cystine transport	TAS	8054986
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8054986
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0031526	Component	Brush border membrane	IDA	12167606
GO:0031526	Component	Brush border membrane	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	32494597
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1990822	Process	Basic amino acid transmembrane transport	IEA

Other IDs

• MIM: 104614
• HGNC: 11025
• e!Ensembl: ENSG00000138079

Protein

• UniProt ID: Q07837
• Protein name: Amino acid transporter heavy chain SLC3A1 (D2h) (Neutral and basic amino acid transport protein) (NBAT) (Solute carrier family 3 member 1) (b(0,+)-type amino acid transporter-related heavy chain) (rBAT)
• Protein function: Acts as a chaperone that facilitates biogenesis and trafficking of functional transporter heteromers to the plasma membrane (By similarity) (PubMed:10588648, PubMed:11318953, PubMed:16609684, PubMed:16825196, PubMed:32494597, PubMed:32817565, Pu
• PDB: 6LI9, 6LID, 6YUP, 6YUZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00128	Alpha-amylase	140 → 492	Alpha amylase, catalytic domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brush border membrane in the kidney (at protein level). Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver. {ECO:0000269|PubMed:12167606, ECO:0000269|PubMed:7686906, ECO:0000
• Sequence:

  MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFK
  GVQPYAGMPKEVLFQFSGQARYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQE
  GPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTVWITSFYKSSLKDFRYGVEDF
  REVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
  DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEIL
  RFWLTKGVDGFSLDAVKFLLEAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDI
  VRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLPFIQEADFPFNNYLSMLDTVS
  GNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
  GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDV
  QKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFG
  ESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFLDKGEGLIFEHNTKNLLHRQT
  AFRDRCFVSNRACYSSVLNILYTSC

• Sequence length: 685

Pathways

KEGG:

Protein digestion and absorption

Reactome:

Amino acid transport across the plasma membrane
Defective SLC3A1 causes cystinuria (CSNU)
Defective SLC7A9 causes cystinuria (CSNU)

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
Autism spectrum disorder	Pathogenic	rs200483989	RCV003313951	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystine urolithiasis	Pathogenic; Likely pathogenic	rs375399468, rs1572804699, rs768467260, rs368554884, rs779941675, rs373176089, rs368796166, rs1361526419, rs769712061, rs758627758	RCV000991112 RCV000991117 RCV000991110 RCV000991123 RCV000991111 RCV000991109 RCV000991124 RCV000991105 RCV000991118 RCV000991122	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinuria	Pathogenic; Likely pathogenic	rs755432720, rs768222969, rs765828196, rs777575410, rs201376169, rs772810111, rs2104364101, rs2104342335, rs139251285, rs1206425661, rs369603431, rs567478582, rs2104385536, rs542026439, rs2104385579, rs1453871309, rs1463329071, rs1461067691, rs797044609, rs2465948985, rs766198611, rs2465902056, rs761211666, rs2466668103, rs2466021042, rs1249821286, rs2465949850, rs2465939469, rs886042834, rs2465972753, rs374750983, rs200483989, rs778354350, rs368796166, rs2466021530, rs1324540640, rs201502095, rs2465901443, rs2466681808, rs1671960904, rs121912691, rs121912693, rs121912694, rs200001778, rs775827496, rs1553344107, rs387907276, rs779932118, rs778000327, rs1558450604, rs776729515, rs777149216, rs768467260, rs1361526419, rs758627758, rs767801148, rs747035900, rs369641941, rs1672820246, rs1672093819	RCV001374412 RCV001374419 RCV001390784 RCV001384053 RCV001761809 RCV003506537 RCV001783769 RCV001999110 RCV001961514 RCV001977751 RCV002013904 RCV001956176 RCV001972524 RCV001947095 RCV002251021 RCV002612511 RCV002664233 RCV002755885 RCV000192842 RCV002912849 RCV002923352 RCV003134071 RCV003152900 RCV003156159 RCV003156162 RCV003156163 RCV003156164 RCV003228714 RCV001037564 RCV003330373 RCV003333288 RCV000332132 RCV003506534 RCV003506538 RCV003506541 RCV003506543 RCV000402894 RCV003504873 RCV003616826 RCV003992078 RCV000019743 RCV000019744 RCV000019745 RCV000019746 RCV004557283 RCV000416445 RCV000497086 RCV000030727 RCV001234999 RCV001257095 RCV001067849 RCV000688389 RCV000798029 RCV000796237 RCV004761853 RCV001313669 RCV001238859 RCV003141911 RCV001064226 RCV001216584 RCV001213233 RCV001225547 RCV001257094	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney disorder	Likely pathogenic; Pathogenic	rs121912691	RCV005624699	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrocalcinosis	Likely pathogenic; Pathogenic	rs778000327	RCV000662323	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Likely pathogenic; Pathogenic	rs778000327	RCV000662323	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC3A1-related disorder	Pathogenic; Likely pathogenic	rs1671994225, rs200483989, rs1672093562, rs121912691, rs775827496, rs368796166, rs369641941	RCV003421029 RCV004754396 RCV003946874 RCV004754266 RCV003415724 RCV004754420 RCV004754669 RCV003963130	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HYPOTONIA CYSTINURIA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HYPOTONIA-CYSTINURIA SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTINURIA TYPE A	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTINURIA, TYPE A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 22	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2p21 microdeletion syndrome	2p21 microdeletion syndrome	ORPHANET_DG	11524703		★☆☆☆☆ Found in Text Mining only
2p21 microdeletion syndrome	2p21 microdeletion syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Atypical hypotonia-cystinuria syndrome	Hypotonia-Cystinuria Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28382174		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31140607, 37304236	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	16006956, 19288324		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	16006956		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23652727		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital posterior urethral valves	Congenital Posterior Urethral Valves	BEFREE	16006956		★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	Pubtator	36421847	Associate	★☆☆☆☆ Found in Text Mining only
Cystinuria	Cystinuria	BEFREE	10449648, 10464673, 10620184, 10798361, 11129328, 11260385, 11396607, 11748844, 12234283, 12372889, 12474640, 12779097, 12820697, 14531788, 15021200, 15635077, 15673291, 15691362, 16138908, 16225397, 16435221, 16609684, 17010017, 17701443, 17880288, 18752446, 19782624, 20517292, 21255007, 22480232, 22766003, 23532419, 24045899, 24449952, 25599739, 26123750, 26540609, 26837681, 28270646, 28461819, 28646536, 28812535, 30069816, 30515543, 7539209, 7568194, 7575432, 7789946, 8054986, 8731106, 8812428, 9042922, 9186880, 9648062, 9768685		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinuria	Cystinuria	Pubtator	10620184, 10805464, 11524703, 12234283, 12841020, 16374432, 25964309, 28049243, 28166740, 33169184, 35577790, 36421847, 37525149, 38114997, 40428323, 7539209, 7568194, 9186880, 9648063	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinuria	Cystinuria	UNIPROT_DG	10738006, 11748844, 12234283, 15635077, 16138908, 16609684, 19782624, 7539209, 7573036, 7575432, 8054986, 9186880		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinuria	Cystinuria	CLINGEN_DG	11129328, 12923163, 16138908, 16374432, 18332091, 28049243, 8054986, 8486766, 8792820, 9648062		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinuria	Cystinuria	CLINVAR_DG	11260385, 11748844, 12234283, 14991253, 15635077, 15691362, 16138908, 16225397, 17010017, 17880288, 18332091, 18704508, 18947684, 20517292, 21255007, 21677404, 22493502, 23532419, 25109415, 25296721, 25964309, 26537754, 28646536, 28717662, 7539209, 7573036, 8054986, 8792820, 9083097, 9186880, 9768685		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinuria	Cystinuria	LHGDN	11748844, 12372889, 16138908, 18332091, 18778962		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinuria	Cystinuria	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinuria	Cystinuria	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinuria	Cystinuria	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinuria Type A	Cystinuria	Pubtator	10620184, 10805464, 11524703, 12234283, 16374432, 28166740, 35577790, 38114997	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystinuria type A	Cystinuria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystinuria, Type A	Cystinuria	BEFREE	16374432, 31221135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystinuria, Type A	Cystinuria	ORPHANET_DG	21255007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystinuria, Type B	Cystinuria	BEFREE	28166740		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31606126		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31606126		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	38114997	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	12482634		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28958145		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28958145		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	35577790, 7568194	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11422818, 12482634		★☆☆☆☆ Found in Text Mining only
hypertensive nephropathy	Hypertensive Nephropathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotonia-Cystinuria Syndrome	Hypotonia-Cystinuria Syndrome	ORPHANET_DG	16385448		★☆☆☆☆ Found in Text Mining only
Hypotonia-cystinuria syndrome	Hypotonia-Cystinuria Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypotonia-Cystinuria Syndrome	Hypotonia-Cystinuria Syndrome	BEFREE	17579669, 18781961, 22480232, 22796000, 28726805, 29627929, 31024870		★☆☆☆☆ Found in Text Mining only
Hypotonia-Cystinuria Syndrome	Hypotonia-Cystinuria Syndrome	CTD_human_DG	26247364		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31599367		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	19443277, 26588355		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	28646536, 9648063		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	16006956, 19288324		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28382174		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25835180		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	29433732		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24385301		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	Pubtator	12841020	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	31404091		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	BEFREE	31404091		★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 22	Myasthenic Syndrome	BEFREE	24610330		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	24610330	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	BEFREE	22766003		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28382174, 8390804		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	CLINVAR_DG	28893421		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	BEFREE	28646536, 9648063		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	CLINVAR_DG	28893421		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	Pubtator	40428323	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Panic Disorder	Panic Disorder	BEFREE	15108186, 22353325		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	29038346		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	17010017		★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	19288324		★☆☆☆☆ Found in Text Mining only
Xanthinuria Type I	Xanthinuria	Pubtator	37525149	Associate	★☆☆☆☆ Found in Text Mining only