SLC35A2 (solute carrier family 35 member A2)

Gene

• Entrez ID: 7355
• Gene name: Solute carrier family 35 member A2
• Gene symbol: SLC35A2
• Synonyms (NCBI Gene): CDG2M, CDGX, UDP-Gal-Tr, UGALT, UGAT, UGT, UGT1, UGT2, UGTL
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycan

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776961	C>T	Likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant
rs587776962	C>T	Pathogenic	Missense variant, intron variant, initiator codon variant
rs587777434	AT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs587777435	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs587777436	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs782113085	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs869312860	T>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1042469070	T>C	Likely-pathogenic	Initiator codon variant, intron variant, missense variant
rs1057518194	GAG>-	Pathogenic	Coding sequence variant, inframe deletion, intron variant
rs1057518719	ACGA>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1057519000	CACTGCAGCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1131691973	A>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1557042808	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1557042824	CGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCA	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1557043131	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557043133	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1557043622	C>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1557044030	GATCCCGACCTCCGCCTCCCATGCGACTGCTCGGGCAGACTGTCTCACCCGCACTGGCGGTCCCCGGCTCCAATGCACCCGCGGAAACCGCCCCTGGCCCGGGCGCCGCGGTGGAACCACCAGCC>T	Pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1569511572	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1602338615	GA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1602338996	GAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, intron variant
rs1602340350	CAT>-	Likely-pathogenic	Coding sequence variant, inframe indel
rs1602344901	A>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1602347861	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1602347908	A>T	Likely-pathogenic	Missense variant, initiator codon variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022815	hsa-miR-124-3p	Microarray	18668037
MIRT046822	hsa-miR-222-3p	CLASH	23622248
MIRT653603	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT653602	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT653601	hsa-miR-4780	HITS-CLIP	23824327
MIRT653600	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT653599	hsa-miR-581	HITS-CLIP	23824327
MIRT653598	hsa-miR-3657	HITS-CLIP	23824327
MIRT653597	hsa-miR-4669	HITS-CLIP	23824327
MIRT653596	hsa-miR-623	HITS-CLIP	23824327
MIRT653595	hsa-miR-592	HITS-CLIP	23824327
MIRT653603	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT653602	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT653601	hsa-miR-4780	HITS-CLIP	23824327
MIRT653600	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT653599	hsa-miR-581	HITS-CLIP	23824327
MIRT653598	hsa-miR-3657	HITS-CLIP	23824327
MIRT653597	hsa-miR-4669	HITS-CLIP	23824327
MIRT653596	hsa-miR-623	HITS-CLIP	23824327
MIRT653595	hsa-miR-592	HITS-CLIP	23824327
MIRT1360093	hsa-miR-4690-3p	CLIP-seq
MIRT1360094	hsa-miR-4699-3p	CLIP-seq
MIRT1360095	hsa-miR-4733-5p	CLIP-seq
MIRT1360096	hsa-miR-548p	CLIP-seq
MIRT1360097	hsa-miR-760	CLIP-seq
MIRT1360098	hsa-miR-2110	CLIP-seq
MIRT1360099	hsa-miR-3150a-3p	CLIP-seq
MIRT1360100	hsa-miR-3175	CLIP-seq
MIRT1360101	hsa-miR-329	CLIP-seq
MIRT1360102	hsa-miR-362-3p	CLIP-seq
MIRT1360103	hsa-miR-3936	CLIP-seq
MIRT1360104	hsa-miR-4260	CLIP-seq
MIRT1360105	hsa-miR-582-5p	CLIP-seq
MIRT1360106	hsa-miR-939	CLIP-seq
MIRT1360107	hsa-miR-1207-3p	CLIP-seq
MIRT1360108	hsa-miR-1289	CLIP-seq
MIRT1360109	hsa-miR-133a	CLIP-seq
MIRT1360110	hsa-miR-133b	CLIP-seq
MIRT1360111	hsa-miR-1825	CLIP-seq
MIRT1360112	hsa-miR-199a-5p	CLIP-seq
MIRT1360113	hsa-miR-199b-5p	CLIP-seq
MIRT1360114	hsa-miR-3618	CLIP-seq
MIRT1360115	hsa-miR-4270	CLIP-seq
MIRT1360116	hsa-miR-4281	CLIP-seq
MIRT1360117	hsa-miR-4441	CLIP-seq
MIRT1360118	hsa-miR-4640-5p	CLIP-seq
MIRT1360119	hsa-miR-4726-5p	CLIP-seq
MIRT1360120	hsa-miR-934	CLIP-seq
MIRT1360105	hsa-miR-582-5p	CLIP-seq
MIRT1360107	hsa-miR-1207-3p	CLIP-seq
MIRT1360109	hsa-miR-133a	CLIP-seq
MIRT1360110	hsa-miR-133b	CLIP-seq
MIRT1360116	hsa-miR-4281	CLIP-seq
MIRT1360118	hsa-miR-4640-5p	CLIP-seq
MIRT1360119	hsa-miR-4726-5p	CLIP-seq
MIRT1360111	hsa-miR-1825	CLIP-seq
MIRT2330848	hsa-miR-198	CLIP-seq
MIRT1360112	hsa-miR-199a-5p	CLIP-seq
MIRT1360113	hsa-miR-199b-5p	CLIP-seq
MIRT1360098	hsa-miR-2110	CLIP-seq
MIRT2330849	hsa-miR-2355-3p	CLIP-seq
MIRT1360099	hsa-miR-3150a-3p	CLIP-seq
MIRT1360100	hsa-miR-3175	CLIP-seq
MIRT2330850	hsa-miR-3620	CLIP-seq
MIRT1360103	hsa-miR-3936	CLIP-seq
MIRT1360104	hsa-miR-4260	CLIP-seq
MIRT2330851	hsa-miR-4646-3p	CLIP-seq
MIRT2330852	hsa-miR-4728-5p	CLIP-seq
MIRT1360105	hsa-miR-582-5p	CLIP-seq
MIRT1360106	hsa-miR-939	CLIP-seq
MIRT2625090	hsa-miR-1238	CLIP-seq
MIRT2625091	hsa-miR-3183	CLIP-seq
MIRT1360101	hsa-miR-329	CLIP-seq
MIRT2625092	hsa-miR-335	CLIP-seq
MIRT1360102	hsa-miR-362-3p	CLIP-seq
MIRT2625093	hsa-miR-377	CLIP-seq
MIRT2625094	hsa-miR-3923	CLIP-seq
MIRT2625095	hsa-miR-4305	CLIP-seq
MIRT2625096	hsa-miR-4457	CLIP-seq
MIRT2625097	hsa-miR-4723-3p	CLIP-seq
MIRT2625098	hsa-miR-4761-5p	CLIP-seq
MIRT2625099	hsa-miR-509-3p	CLIP-seq
MIRT2625100	hsa-miR-513b	CLIP-seq
MIRT2625101	hsa-miR-520a-5p	CLIP-seq
MIRT2625102	hsa-miR-525-5p	CLIP-seq
MIRT2625103	hsa-miR-628-3p	CLIP-seq
MIRT2625104	hsa-miR-640	CLIP-seq
MIRT2625105	hsa-miR-802	CLIP-seq
MIRT2625090	hsa-miR-1238	CLIP-seq
MIRT2691136	hsa-miR-3136-3p	CLIP-seq
MIRT2625091	hsa-miR-3183	CLIP-seq
MIRT2691137	hsa-miR-320e	CLIP-seq
MIRT2625092	hsa-miR-335	CLIP-seq
MIRT2691138	hsa-miR-3922-5p	CLIP-seq
MIRT2625095	hsa-miR-4305	CLIP-seq
MIRT2691139	hsa-miR-4717-5p	CLIP-seq
MIRT2625097	hsa-miR-4723-3p	CLIP-seq
MIRT2691140	hsa-miR-4753-5p	CLIP-seq
MIRT2625099	hsa-miR-509-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	28167211
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005459	Function	UDP-galactose transmembrane transporter activity	IBA
GO:0005459	Function	UDP-galactose transmembrane transporter activity	TAS	9010752
GO:0005515	Function	Protein binding	IPI	23089177, 28167211, 32296183, 32827291, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IDA	21918738
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	21918738
GO:0005794	Component	Golgi apparatus	IEA
GO:0006012	Process	Galactose metabolic process	TAS	9010752
GO:0015165	Function	Pyrimidine nucleotide-sugar transmembrane transporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0072334	Process	UDP-galactose transmembrane transport	IBA
GO:0072334	Process	UDP-galactose transmembrane transport	IMP	23561849
GO:0072334	Process	UDP-galactose transmembrane transport	TAS	9010752
GO:0090481	Process	Pyrimidine nucleotide-sugar transmembrane transport	IEA

Other IDs

• MIM: 314375
• HGNC: 11022
• e!Ensembl: ENSG00000102100

Protein

• UniProt ID: P78381
• Protein name: UDP-galactose translocator (Solute carrier family 35 member A2) (UDP-galactose transporter) (UDP-Gal-Tr) (UGT)
• Protein function: Transports uridine diphosphate galactose (UDP-galactose) from the cytosol into the Golgi apparatus, functioning as an antiporter that exchanges UDP-galactose for UMP (PubMed:12682060, PubMed:9010752). It is also able to exchange UDP-galactose fo
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04142	Nuc_sug_transp	31 → 339	Nucleotide-sugar transporter	Family

• Sequence:

  MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVLVVQNASLILSIRYARTL
  PGDRFFATTAVVMAEVLKGLTCLLLLFAQKRGNVKHLVLFLHEAVLVQYVDTLKLAVPSL
  IYTLQNNLQYVAISNLPAATFQVTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVA
  IVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGL
  FGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFA
  TSLSIVLSTVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCV
  HQQPPGQPPPPQLSSHRGDLITEPFLPKLLTKVKGS

• Sequence length: 396

Pathways

Reactome:

Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M)
Transport of nucleotide sugars

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
Congenital disorder of glycosylation	Likely pathogenic	rs2519651770	RCV003152647	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic	rs1057519000	RCV000415123	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
non-lesional focal epilepsy	Likely pathogenic; Pathogenic	rs1557043650, rs2147486766, rs2147486180, rs2147489679, rs1602338615	RCV001849582 RCV001849583 RCV001849886 RCV001849887 RCV001849444	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC35A2-congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs2063491273, rs2063477224, rs2147486684, rs2147487247, rs2147489491, rs2147487028, rs2147489736, rs2147486594, rs587777434, rs587777435, rs587777436, rs2147489558, rs2147496735, rs1042469070, rs869312860, rs1557042808, rs2519645163, rs2519660708, rs2519667319, rs1557043682, rs2519644564, rs1057518719, rs1557042824, rs1557043622, rs1557043131, rs1569511572, rs1557044030, rs587776961, rs587776962, rs1602338615, rs1602347908, rs1602338996, rs1602340350, rs1602344901, rs2519647187, rs2063477918, rs2063479086, rs2063478987, rs868941656, rs2063477376	RCV001331522 RCV001346389 RCV001374456 RCV001374458 RCV001374455 RCV001384855 RCV001385378 RCV001814875 RCV000122744 RCV000122745 RCV000122746 RCV001997611 RCV001956129 RCV002246722 RCV000210405 RCV003148558 RCV003321453 RCV003582886 RCV003582065 RCV003742164 RCV003740887 RCV000415221 RCV002286410 RCV000469944 RCV000560194 RCV000651307 RCV000766228 RCV000043514 RCV000043515 RCV000043516 RCV000785980 RCV000823050 RCV000990814 RCV000990815 RCV000990816 RCV001004665 RCV001063440 RCV001050910 RCV002557952 RCV001265566 RCV001289474	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC35A2-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SOLUTE CARRIER FAMILY 35 MEMBER A2 CONGENITAL DISORDER OF GLYCOSYLATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked complex neurodevelopmental disorder	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	22367021		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	31513587		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	17426648		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	12850481		★☆☆☆☆ Found in Text Mining only
Anisometropia	Anisometropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	29907092	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	29907092, 31231989	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	35441233	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	19021734		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23632476		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29679388, 36307217	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18798070, 20799965, 27496708		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36267313, 36593004, 38143314	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37467193	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	27690298		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23632476		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28540621		★☆☆☆☆ Found in Text Mining only
Cataract congenital with microcornea or slight microphthalmia	Cataract-microcornea syndrome	Pubtator	23561849	Associate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	11425418, 11843828, 14555305		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	11425418, 11843828, 14555305, 19021734		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24677636, 29519853		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	28049773	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23575887, 24677636, 24822274, 25686853, 26027741		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28049773, 37889544, 40303483	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1s	Congenital disorder of glycosylation	BEFREE	30746764		★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation, Type In	Congenital disorder of glycosylation	BEFREE	23561849		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	23561849, 24115232, 27743886, 28742265, 29907092, 30194038, 30817854, 30834435, 31677975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	23561849, 27391121, 29679388, 29869806, 29907092, 30194038, 31231989, 33407896, 34440401, 37069668, 37278968	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crigler Najjar syndrome, type 1	Crigler-Najjar syndrome	BEFREE	11013440, 12378576, 18180294, 19845429, 7906695, 7989045, 8027054, 8102509, 8280139, 9039987, 9435989		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	15953334		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	17426648		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	31231989	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26740508, 29907092, 31231989	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	29907092	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	23561849, 24115232, 25262651, 25778940, 25877686, 26350515, 26740508, 8889805, 9010752		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29679388		★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	29679388	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20064729, 25425167, 27743886, 29679388		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	29679388, 31231989, 36226386, 39344240	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	30746764		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	24115232, 27743886, 30194038, 30746764		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	30194038	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28540621		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22367021		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22367021		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	20056642		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	22367021		★☆☆☆☆ Found in Text Mining only
Galactosemias	Galactosemia	Pubtator	23561849	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	BEFREE	10968441, 11568299, 11843828, 11915038, 12012638, 15297419, 16798708, 17426648, 19021734, 19845429, 20194756, 27866642, 9929972		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31231989		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	29907092	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	Granulomatous Disease	BEFREE	28742265		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	29907092	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30194038	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	10968441, 11568299, 11803413, 16623861, 20194756, 21983082, 22759796, 26480925, 28065859, 28790862, 9748558, 9929972		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	BEFREE	21983082, 28025333, 28340583		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	35706131	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic hippocampus	Hypoplastic hippocampus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	37275857	Associate	★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	23561849, 27604308		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25425167		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30194038, 36307217	Associate	★☆☆☆☆ Found in Text Mining only
Isolated focal cortical dysplasia type Ia	Isolated focal cortical dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	22934695, 24519753, 25778466, 26352872, 28585035		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37889544	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25055799		★☆☆☆☆ Found in Text Mining only
Macular dystrophy corneal type 1	Macular dystrophy	Pubtator	31444548	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	29679388		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	29679388, 33407896, 35706131, 36226386	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18798070, 20799965, 27496708		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22367021		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28540621		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25452636, 9564848		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23632476		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16550166, 23880823, 26828111, 28585035, 30724669		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24677636, 29519853		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	37275857	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	18180294		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21692598, 26027741		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26740508		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	22934695, 24519753, 25778466, 26352872, 28585035		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27301979		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28540621		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	31231989	Associate	★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature adrenarche	Premature adrenarche	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25452636, 9564848		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	31231989	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	26740508	Associate	★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	25778466		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31231989, 36307217	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
SLC35A2-CDG	Congenital Disorder Of Glycosylation	Orphanet			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Solute carrier family 35 member A2 congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION	CLINVAR_DG	23561849, 30817854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Solute carrier family 35 member A2 congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION	ORPHANET_DG	23561849		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Solute carrier family 35 member A2 congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION	GENOMICS_ENGLAND_DG	23561849, 30746764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Solute carrier family 35 member A2 congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION	UNIPROT_DG	23561849, 24115232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Solute carrier family 35 member A2 congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION	BEFREE	27391121, 29907092, 30817854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Solute carrier family 35 member A2 congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spasms Infantile	Infantile spasms	Pubtator	30194038, 31394400	Associate	★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37467193	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG	30817854		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	BEFREE	12850481		★☆☆☆☆ Found in Text Mining only
Transient nephrotic syndrome	Transient nephrotic syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	25425167		★☆☆☆☆ Found in Text Mining only
Unconjugated hyperbilirubinemia	Hyperbilirubinemia	BEFREE	12439228, 19830808, 8027054, 9435989		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37275857	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26350515, 30194038	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	30194038		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	17549067		★☆☆☆☆ Found in Text Mining only