SLC29A3 (solute carrier family 29 member 3)

Gene

• Entrez ID: 55315
• Gene name: Solute carrier family 29 member 3
• Gene symbol: SLC29A3
• Synonyms (NCBI Gene): ENT3, HCLAP, HJCD, PHID
• Chromosome: 10
• Chromosome location: 10q22.1
• Summary: This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperp

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs780668	C>T	Drug-response, benign	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs113542201	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs121912583	G>A	Pathogenic	Non coding transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs121912584	G>A	Pathogenic	Non coding transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs139857136	G>T	Likely-pathogenic	Splice acceptor variant
rs144665176	A>G	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs267607056	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained, non coding transcript variant
rs267607058	C>G,T	Pathogenic	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs387907066	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs387907067	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs397514626	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs397515429	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs587780462	C>T	Pathogenic	3 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs587780463	G>A,C	Pathogenic	Splice donor variant
rs746408350	C>G,T	Uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs776960135	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs869025176	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs869025177	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1415833135	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1589220231	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017125	hsa-miR-335-5p	Microarray	18185580
MIRT1358331	hsa-miR-1	CLIP-seq
MIRT1358332	hsa-miR-206	CLIP-seq
MIRT1358333	hsa-miR-3179	CLIP-seq
MIRT1358334	hsa-miR-3673	CLIP-seq
MIRT1358335	hsa-miR-613	CLIP-seq
MIRT1358336	hsa-miR-1972	CLIP-seq
MIRT1358337	hsa-miR-3127-3p	CLIP-seq
MIRT1358338	hsa-miR-4270	CLIP-seq
MIRT1358339	hsa-miR-4441	CLIP-seq
MIRT1358340	hsa-miR-4685-5p	CLIP-seq
MIRT1358341	hsa-miR-4733-3p	CLIP-seq
MIRT1358342	hsa-miR-617	CLIP-seq
MIRT2106164	hsa-miR-103a	CLIP-seq
MIRT2106165	hsa-miR-107	CLIP-seq
MIRT2106166	hsa-miR-1207-3p	CLIP-seq
MIRT2106167	hsa-miR-1236	CLIP-seq
MIRT2106168	hsa-miR-141	CLIP-seq
MIRT2106169	hsa-miR-200a	CLIP-seq
MIRT2106170	hsa-miR-3119	CLIP-seq
MIRT1358333	hsa-miR-3179	CLIP-seq
MIRT2106171	hsa-miR-3689a-3p	CLIP-seq
MIRT2106172	hsa-miR-3689c	CLIP-seq
MIRT1358338	hsa-miR-4270	CLIP-seq
MIRT2106173	hsa-miR-4284	CLIP-seq
MIRT1358339	hsa-miR-4441	CLIP-seq
MIRT2106174	hsa-miR-4639-3p	CLIP-seq
MIRT2106175	hsa-miR-4728-5p	CLIP-seq
MIRT2106176	hsa-miR-4793-3p	CLIP-seq
MIRT2106177	hsa-miR-885-3p	CLIP-seq
MIRT2106178	hsa-miR-942	CLIP-seq
MIRT1358331	hsa-miR-1	CLIP-seq
MIRT2106166	hsa-miR-1207-3p	CLIP-seq
MIRT1358332	hsa-miR-206	CLIP-seq
MIRT1358334	hsa-miR-3673	CLIP-seq
MIRT1358335	hsa-miR-613	CLIP-seq
MIRT2394699	hsa-miR-24	CLIP-seq
MIRT2394700	hsa-miR-3622b-5p	CLIP-seq
MIRT2394701	hsa-miR-3945	CLIP-seq
MIRT2394702	hsa-miR-4253	CLIP-seq
MIRT2106173	hsa-miR-4284	CLIP-seq
MIRT1358331	hsa-miR-1	CLIP-seq
MIRT2106164	hsa-miR-103a	CLIP-seq
MIRT2106165	hsa-miR-107	CLIP-seq
MIRT2106166	hsa-miR-1207-3p	CLIP-seq
MIRT2624505	hsa-miR-1238	CLIP-seq
MIRT2624506	hsa-miR-1245b-5p	CLIP-seq
MIRT2624507	hsa-miR-1273e	CLIP-seq
MIRT1358332	hsa-miR-206	CLIP-seq
MIRT2624508	hsa-miR-3124-3p	CLIP-seq
MIRT1358337	hsa-miR-3127-3p	CLIP-seq
MIRT2624509	hsa-miR-3127-5p	CLIP-seq
MIRT2624510	hsa-miR-3142	CLIP-seq
MIRT2624511	hsa-miR-3160-3p	CLIP-seq
MIRT2624512	hsa-miR-3173-3p	CLIP-seq
MIRT1358333	hsa-miR-3179	CLIP-seq
MIRT2624513	hsa-miR-361-3p	CLIP-seq
MIRT1358334	hsa-miR-3673	CLIP-seq
MIRT1358338	hsa-miR-4270	CLIP-seq
MIRT2624514	hsa-miR-4327	CLIP-seq
MIRT2624515	hsa-miR-4428	CLIP-seq
MIRT1358339	hsa-miR-4441	CLIP-seq
MIRT2624516	hsa-miR-4652-5p	CLIP-seq
MIRT2624517	hsa-miR-4663	CLIP-seq
MIRT1358340	hsa-miR-4685-5p	CLIP-seq
MIRT2624518	hsa-miR-4691-5p	CLIP-seq
MIRT2624519	hsa-miR-4755-3p	CLIP-seq
MIRT2624520	hsa-miR-555	CLIP-seq
MIRT2624521	hsa-miR-591	CLIP-seq
MIRT1358335	hsa-miR-613	CLIP-seq
MIRT1358342	hsa-miR-617	CLIP-seq
MIRT2624522	hsa-miR-720	CLIP-seq
MIRT2106177	hsa-miR-885-3p	CLIP-seq
MIRT1358331	hsa-miR-1	CLIP-seq
MIRT2691040	hsa-miR-1185	CLIP-seq
MIRT2106166	hsa-miR-1207-3p	CLIP-seq
MIRT2624505	hsa-miR-1238	CLIP-seq
MIRT2624506	hsa-miR-1245b-5p	CLIP-seq
MIRT2624507	hsa-miR-1273e	CLIP-seq
MIRT2691041	hsa-miR-1276	CLIP-seq
MIRT2691042	hsa-miR-129-5p	CLIP-seq
MIRT1358336	hsa-miR-1972	CLIP-seq
MIRT1358332	hsa-miR-206	CLIP-seq
MIRT2624508	hsa-miR-3124-3p	CLIP-seq
MIRT1358337	hsa-miR-3127-3p	CLIP-seq
MIRT2624509	hsa-miR-3127-5p	CLIP-seq
MIRT2624510	hsa-miR-3142	CLIP-seq
MIRT2624511	hsa-miR-3160-3p	CLIP-seq
MIRT2624512	hsa-miR-3173-3p	CLIP-seq
MIRT2691043	hsa-miR-3192	CLIP-seq
MIRT2691044	hsa-miR-339-3p	CLIP-seq
MIRT2691045	hsa-miR-3605-5p	CLIP-seq
MIRT2624513	hsa-miR-361-3p	CLIP-seq
MIRT1358334	hsa-miR-3673	CLIP-seq
MIRT2691046	hsa-miR-3679-5p	CLIP-seq
MIRT2106171	hsa-miR-3689a-3p	CLIP-seq
MIRT2106172	hsa-miR-3689c	CLIP-seq
MIRT1358338	hsa-miR-4270	CLIP-seq
MIRT2624514	hsa-miR-4327	CLIP-seq
MIRT2624515	hsa-miR-4428	CLIP-seq
MIRT1358339	hsa-miR-4441	CLIP-seq
MIRT2624516	hsa-miR-4652-5p	CLIP-seq
MIRT2691047	hsa-miR-4661-3p	CLIP-seq
MIRT2624517	hsa-miR-4663	CLIP-seq
MIRT2691048	hsa-miR-4684-3p	CLIP-seq
MIRT1358340	hsa-miR-4685-5p	CLIP-seq
MIRT2624518	hsa-miR-4691-5p	CLIP-seq
MIRT2106175	hsa-miR-4728-5p	CLIP-seq
MIRT1358341	hsa-miR-4733-3p	CLIP-seq
MIRT2624519	hsa-miR-4755-3p	CLIP-seq
MIRT2691049	hsa-miR-518a-5p	CLIP-seq
MIRT2691050	hsa-miR-527	CLIP-seq
MIRT2624520	hsa-miR-555	CLIP-seq
MIRT2691051	hsa-miR-570	CLIP-seq
MIRT2624521	hsa-miR-591	CLIP-seq
MIRT1358335	hsa-miR-613	CLIP-seq
MIRT1358342	hsa-miR-617	CLIP-seq
MIRT2691052	hsa-miR-642a	CLIP-seq
MIRT2624522	hsa-miR-720	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	IDA	19164483
GO:0005337	Function	Nucleoside transmembrane transporter activity	IBA
GO:0005337	Function	Nucleoside transmembrane transporter activity	IDA	15701636, 20595384, 28729424
GO:0005337	Function	Nucleoside transmembrane transporter activity	IEA
GO:0005337	Function	Nucleoside transmembrane transporter activity	IMP	19164483
GO:0005337	Function	Nucleoside transmembrane transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	25910212
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	15701636, 17897319
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006837	Process	Serotonin transport	IDA	19164483
GO:0008504	Function	Monoamine transmembrane transporter activity	IDA	19164483
GO:0015101	Function	Organic cation transmembrane transporter activity	IDA	19164483
GO:0015205	Function	Nucleobase transmembrane transporter activity	IDA	19164483
GO:0015208	Function	Guanine transmembrane transporter activity	IDA	19164483
GO:0015210	Function	Uracil transmembrane transporter activity	IDA	19164483
GO:0015212	Function	Cytidine transmembrane transporter activity	IDA	19164483
GO:0015213	Function	Uridine transmembrane transporter activity	IDA	19164483, 28729424
GO:0015851	Process	Nucleobase transport	IDA	19164483
GO:0015858	Process	Nucleoside transport	IDA	15701636, 20595384, 28729424
GO:0015858	Process	Nucleoside transport	IEA
GO:0015858	Process	Nucleoside transport	IMP	19164483
GO:0015861	Process	Cytidine transport	IDA	19164483
GO:0015862	Process	Uridine transmembrane transport	IDA	19164483, 28729424
GO:0015872	Process	Dopamine transport	IDA	19164483
GO:0015874	Process	Norepinephrine transport	IDA	19164483
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031902	Component	Late endosome membrane	IDA	15701636
GO:0031902	Component	Late endosome membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032238	Process	Adenosine transport	IDA	15701636, 20595384, 28729424
GO:0032238	Process	Adenosine transport	IEA
GO:0032238	Process	Adenosine transport	IMP	19164483
GO:0035340	Process	Inosine transport	IDA	19164483, 28729424
GO:1901642	Process	Nucleoside transmembrane transport	IDA	15701636, 20595384, 28729424
GO:1901642	Process	Nucleoside transmembrane transport	IEA
GO:1901642	Process	Nucleoside transmembrane transport	IMP	19164483
GO:1903716	Process	Guanine transmembrane transport	IDA	19164483
GO:1903791	Process	Uracil transmembrane transport	IDA	19164483
GO:1904082	Process	Pyrimidine nucleobase transmembrane transport	IDA	19164483
GO:1904823	Process	Purine nucleobase transmembrane transport	IDA	19164483

Other IDs

• MIM: 612373
• HGNC: 23096
• e!Ensembl: ENSG00000198246

Protein

• UniProt ID: Q9BZD2
• Protein name: Equilibrative nucleoside transporter 3 (hENT3) (Solute carrier family 29 member 3)
• Protein function: Uniporter that mediates the facilitative transport of nucleoside across lysosomal and mitochondrial membranes (PubMed:15701636, PubMed:19164483, PubMed:20595384, PubMed:28729424). Functions as a non-electrogenic Na(+)-independent transporter (Pu
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01733	Nucleoside_tran	168 → 473	Nucleoside transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in both adult and fetal tissues (PubMed:15701636). Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow (PubMed:15701636). Expressed in liver (PubMed:19164483). Lowest levels in brain and heart
• Sequence:

  MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSL
  GIGSLLPWNFFITAKEYWMFKLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLV
  ANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSWTRGFFAVTIVCMVILSGAST
  VFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLVDLAASSDVRNSALAFFLTATVF
  LVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRP
  ILKKTASLGFCVTYVFFITSLIYPAICTNIESLNKGSGSLWTTKFFIPLTTFLLYNFADL
  CGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNYQPRVHLKTVVFQSDVYPALLSS
  LLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI

• Sequence length: 475

Pathways

KEGG:

Alcoholism

Reactome:

Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane

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
Clear cell carcinoma of kidney	Likely pathogenic	rs267607057	RCV005887144	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
H syndrome	Pathogenic; Likely pathogenic	rs1223982382, rs587780462, rs587780463, rs2131839011, rs2131796660, rs2131797156, rs2131851477, rs1166563034, rs121912583, rs267607056, rs121912584, rs869025176, rs869025177, rs267607057, rs267607058, rs1430557607, rs1845790373, rs2492507222, rs2492507254, rs2492435861, rs1845876806, rs1205111368, rs2492504505, rs1318676764, rs1015206890, rs2492355723, rs796052139, rs387907066, rs387907067, rs776960135, rs1589220231, rs1415833135, rs139857136, rs377762611, rs749946303, rs758201217	RCV001380759 RCV000118376 RCV000118377 RCV001890965 RCV001930053 RCV002021916 RCV001866549 RCV002005556 RCV000000593 RCV000000594 RCV000000595 RCV000000596 RCV000000597 RCV000000598 RCV000000599 RCV002260484 RCV003062269 RCV002801270 RCV002801271 RCV002999787 RCV003148063 RCV003530748 RCV003531170 RCV003531326 RCV003646058 RCV003646023 RCV000023937 RCV000023938 RCV000023939 RCV005252922 RCV000695799 RCV000023940 RCV000822325 RCV000816718 RCV001069573 RCV001169953 RCV001237894	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pigmentary skin disorders	Pathogenic	rs121912584	RCV006255116	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC29A3-related disorder	Pathogenic; Likely pathogenic	rs267607058, rs387907067	RCV003398400 RCV003398566	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs139857136	RCV005902062	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acanthosis nigricans	Benign; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysosteosclerosis	Uncertain significance	ClinVar Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gemcitabine response	Benign; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRICHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arcus Senilis	Arcus Senilis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	22875837		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	23530176		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	19336477, 20140240		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cervical lymphadenopathy	Cervical lymphadenopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	20140240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	20392501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	20392501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatologic disorders	Dermatologic Disorders	BEFREE	20595384, 22989030, 23623699		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19336477		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19336477		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31276222, 37897565	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	37897565	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22238637, 31276222, 33947670, 34657628	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19336477, 22238637, 22989030, 23623699, 29079714, 30821020		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	19336477, 20140240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	19336477, 20140240		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	19336477, 20140240		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	19336477, 20140240		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	30625464		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysosteosclerosis	Dysosteosclerosis	BEFREE	22875837, 29568001, 30537558		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dysosteosclerosis	Dysosteosclerosis	ORPHANET_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dysosteosclerosis	Dysosteosclerosis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Episcleritis	Episcleritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37897565	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
H syndrome	H Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing Loss	Hearing loss	Pubtator	35732371	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart disease	Pubtator	33947670	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis	Histiocytosis	BEFREE	21178579, 22174130, 22238637, 24229736		★☆☆☆☆ Found in Text Mining only
Histiocytosis	Histiocytosis	CTD_human_DG	22238637		★☆☆☆☆ Found in Text Mining only
Histiocytosis	Histiocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Histiocytosis with joint contractures and sensorineural deafness	Histiocytosis With Joint Contractures And Sensorineural Deafness	CLINVAR_DG	18940313, 20595384, 20619369, 24894595, 29041934		★☆☆☆☆ Found in Text Mining only
Histiocytosis with joint contractures and sensorineural deafness	Histiocytosis With Joint Contractures And Sensorineural Deafness	UNIPROT_DG	18940313, 19336477, 19889517, 20140240, 20199539, 20399510, 20595384, 20619369, 21888995		★☆☆☆☆ Found in Text Mining only
Histiocytosis with joint contractures and sensorineural deafness	Histiocytosis With Joint Contractures And Sensorineural Deafness	ORPHANET_DG	18940313		★☆☆☆☆ Found in Text Mining only
Histiocytosis with joint contractures and sensorineural deafness	Histiocytosis With Joint Contractures And Sensorineural Deafness	GENOMICS_ENGLAND_DG	18940313, 19336477, 22875837, 22989030, 9545394		★☆☆☆☆ Found in Text Mining only
Histiocytosis with joint contractures and sensorineural deafness	Histiocytosis With Joint Contractures And Sensorineural Deafness	BEFREE	19336477, 20140240, 20199539, 20619369, 21178579, 21888995, 22238637, 22356918, 22653152, 22989030, 23058913, 23406517, 23623699, 24894595, 25963354, 26074390, 27316388, 28554179, 29079714, 29808591, 30101042, 30517079, 30625464, 30723056, 30821020		★☆☆☆☆ Found in Text Mining only
Histiocytosis with joint contractures and sensorineural deafness	Histiocytosis With Joint Contractures And Sensorineural Deafness	CTD_human_DG	20140240		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	21888995		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	20140240		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30357508		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	CTD_human_DG	19336477, 20140240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrichosis	HYPERTRICHOSIS	BEFREE	20140240, 22238637, 23530176, 29079714, 30101042, 30821020		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrichosis	Hypertrichosis	Pubtator	22238637, 34657628	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	BEFREE	20140240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	CTD_human_DG	20140240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	CTD_human_DG	20140240		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG	20140240		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	33947670	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	28842327	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24229736, 30926382		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	20392501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	20392501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucolipidosis III Gamma	Mucolipidosis	Pubtator	37897565	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24535606		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopetrosis, Autosomal Recessive 7	Osteopetrosis	BEFREE	31163101		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	CTD_human_DG	20140240		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	BEFREE	26074390		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinus histiocytosis	Sinus Histiocytosis	BEFREE	20140240, 21178579, 22356918, 23623699, 24229736		★☆☆☆☆ Found in Text Mining only
Sinus histiocytosis	Sinus Histiocytosis	CTD_human_DG	20140240		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	22653152		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17711502		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASDB_DG	22951725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASCAT_DG	22951725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations