MFSD2A (MFSD2 lysolipid transporter A, lysophospholipid)

Gene

• Entrez ID: 84879
• Gene name: MFSD2 lysolipid transporter A, lysophospholipid
• Gene symbol: MFSD2A
• Synonyms (NCBI Gene): HsMFSD2A, MCPH15, MFSD2, NEDMISBA, NLS1, SLC59A1
• Chromosome: 1
• Chromosome location: 1p34.2
• Summary: The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs571640983	C>A,T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1057517688	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057517689	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519087	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1570238098	TGT>-	Pathogenic	Intron variant, inframe deletion, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT673141	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT673140	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT673139	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT673138	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT673137	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT673136	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT673135	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT673134	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT673133	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT673132	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT673131	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT673130	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT673129	hsa-miR-302e	HITS-CLIP	23824327
MIRT673128	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT673127	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT673126	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT673125	hsa-miR-520b	HITS-CLIP	23824327
MIRT673124	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT673123	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT673122	hsa-miR-520e	HITS-CLIP	23824327
MIRT673121	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT673120	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT673119	hsa-miR-520h	HITS-CLIP	23824327
MIRT673118	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673117	hsa-miR-764	HITS-CLIP	23824327
MIRT673116	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673115	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673114	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT673113	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT673112	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673111	hsa-miR-1913	HITS-CLIP	23824327
MIRT673110	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT673109	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT673108	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT673106	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT673107	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT673105	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673104	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT673103	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT673102	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT667423	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT667422	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT667421	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT667420	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT667419	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT667418	hsa-miR-5186	HITS-CLIP	23824327
MIRT667417	hsa-miR-4252	HITS-CLIP	23824327
MIRT667416	hsa-miR-7703	HITS-CLIP	23824327
MIRT673141	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT673140	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT673139	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT673138	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT673137	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT673136	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT673135	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT673134	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT673133	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT673132	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT673131	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT673130	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT673129	hsa-miR-302e	HITS-CLIP	23824327
MIRT673128	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT673127	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT673126	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT673125	hsa-miR-520b	HITS-CLIP	23824327
MIRT673124	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT673123	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT673122	hsa-miR-520e	HITS-CLIP	23824327
MIRT673121	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT673120	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT673119	hsa-miR-520h	HITS-CLIP	23824327
MIRT673118	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673117	hsa-miR-764	HITS-CLIP	23824327
MIRT673116	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673115	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673114	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT673113	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT673112	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673111	hsa-miR-1913	HITS-CLIP	23824327
MIRT673110	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT673109	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT673108	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT673106	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT673107	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT673105	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673104	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT673103	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT673102	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT667423	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT667422	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT667421	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT667420	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT667419	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT667418	hsa-miR-5186	HITS-CLIP	23824327
MIRT667417	hsa-miR-4252	HITS-CLIP	23824327
MIRT667416	hsa-miR-7703	HITS-CLIP	23824327
MIRT1146437	hsa-miR-1237	CLIP-seq
MIRT1146438	hsa-miR-1324	CLIP-seq
MIRT1146439	hsa-miR-188-5p	CLIP-seq
MIRT1146440	hsa-miR-3166	CLIP-seq
MIRT1146441	hsa-miR-3182	CLIP-seq
MIRT1146442	hsa-miR-1910	CLIP-seq
MIRT1146443	hsa-miR-3189-3p	CLIP-seq
MIRT1146444	hsa-miR-455-3p	CLIP-seq
MIRT1146445	hsa-miR-4642	CLIP-seq
MIRT1146437	hsa-miR-1237	CLIP-seq
MIRT2041724	hsa-miR-128	CLIP-seq
MIRT2271228	hsa-miR-1827	CLIP-seq
MIRT2271229	hsa-miR-1915	CLIP-seq
MIRT2271230	hsa-miR-2467-3p	CLIP-seq
MIRT2271231	hsa-miR-3158-3p	CLIP-seq
MIRT2271232	hsa-miR-328	CLIP-seq
MIRT2271233	hsa-miR-3607-3p	CLIP-seq
MIRT2271234	hsa-miR-3612	CLIP-seq
MIRT2271235	hsa-miR-3686	CLIP-seq
MIRT2271236	hsa-miR-4255	CLIP-seq
MIRT2271237	hsa-miR-4323	CLIP-seq
MIRT2271238	hsa-miR-4477a	CLIP-seq
MIRT2271239	hsa-miR-4514	CLIP-seq
MIRT2271240	hsa-miR-4672	CLIP-seq
MIRT2271241	hsa-miR-4685-5p	CLIP-seq
MIRT2271242	hsa-miR-4692	CLIP-seq
MIRT2271243	hsa-miR-4758-3p	CLIP-seq
MIRT2271244	hsa-miR-650	CLIP-seq
MIRT2271245	hsa-miR-760	CLIP-seq
MIRT2271246	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AHR	Unknown	21736709
ARNT	Unknown	21736709
GCM1	Unknown	20484742

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003406	Process	Retinal pigment epithelium development	IEA
GO:0003406	Process	Retinal pigment epithelium development	ISS
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IEA
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IMP	26005865
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005548	Function	Phospholipid transporter activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26005865, 26005868
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	RCA	26005868
GO:0005886	Component	Plasma membrane	TAS
GO:0006656	Process	Phosphatidylcholine biosynthetic process	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IMP	26005865, 26005868
GO:0007420	Process	Brain development	ISS
GO:0008594	Process	Photoreceptor cell morphogenesis	IEA
GO:0008594	Process	Photoreceptor cell morphogenesis	ISS
GO:0008643	Process	Carbohydrate transport	IEA
GO:0009267	Process	Cellular response to starvation	IEA
GO:0009267	Process	Cellular response to starvation	ISS
GO:0010867	Process	Positive regulation of triglyceride biosynthetic process	IEA
GO:0010867	Process	Positive regulation of triglyceride biosynthetic process	ISS
GO:0015245	Function	Fatty acid transmembrane transporter activity	IBA
GO:0015245	Function	Fatty acid transmembrane transporter activity	IEA
GO:0015245	Function	Fatty acid transmembrane transporter activity	ISS	24828044
GO:0015293	Function	Symporter activity	IEA
GO:0015908	Process	Fatty acid transport	IBA
GO:0015908	Process	Fatty acid transport	IEA
GO:0015908	Process	Fatty acid transport	IMP	26005865
GO:0015908	Process	Fatty acid transport	ISS
GO:0015909	Process	Long-chain fatty acid transport	IEA
GO:0015909	Process	Long-chain fatty acid transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	26005865
GO:0021766	Process	Hippocampus development	IEA
GO:0021766	Process	Hippocampus development	ISS	24828044
GO:0030307	Process	Positive regulation of cell growth	IEA
GO:0030307	Process	Positive regulation of cell growth	ISS
GO:0031999	Process	Negative regulation of fatty acid beta-oxidation	IEA
GO:0031999	Process	Negative regulation of fatty acid beta-oxidation	ISS
GO:0034204	Process	Lipid translocation	IEA
GO:0034379	Process	Very-low-density lipoprotein particle assembly	IEA
GO:0034379	Process	Very-low-density lipoprotein particle assembly	ISS
GO:0035633	Process	Maintenance of blood-brain barrier	IEA
GO:0035633	Process	Maintenance of blood-brain barrier	ISS
GO:0035633	Process	Maintenance of blood-brain barrier	ISS	26005868
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	ISS
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0040014	Process	Regulation of multicellular organism growth	ISS
GO:0045056	Process	Transcytosis	IEA
GO:0045056	Process	Transcytosis	ISS
GO:0050773	Process	Regulation of dendrite development	IEA
GO:0050773	Process	Regulation of dendrite development	ISS
GO:0050890	Process	Cognition	IMP	26005868
GO:0051977	Process	Lysophospholipid transport	IDA	24828044
GO:0051977	Process	Lysophospholipid transport	IEA
GO:0051977	Process	Lysophospholipid transport	IMP	26005868
GO:0051977	Process	Lysophospholipid transport	ISS
GO:0051978	Function	Lysophospholipid:sodium symporter activity	IBA
GO:0051978	Function	Lysophospholipid:sodium symporter activity	IDA	24828044, 34135507
GO:0051978	Function	Lysophospholipid:sodium symporter activity	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0060042	Process	Retina morphogenesis in camera-type eye	IEA
GO:0060042	Process	Retina morphogenesis in camera-type eye	ISS
GO:0060856	Process	Establishment of blood-brain barrier	ISS
GO:0060856	Process	Establishment of blood-brain barrier	ISS
GO:0061744	Process	Motor behavior	IEA
GO:0061744	Process	Motor behavior	ISS
GO:0097009	Process	Energy homeostasis	IEA
GO:0097009	Process	Energy homeostasis	ISS
GO:0140329	Process	Lysophospholipid translocation	IBA
GO:0140329	Process	Lysophospholipid translocation	IMP	26005865
GO:0140348	Function	Lysophosphatidylcholine flippase activity	IEA
GO:0150011	Process	Regulation of neuron projection arborization	IEA
GO:0150011	Process	Regulation of neuron projection arborization	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:0150172	Process	Regulation of phosphatidylcholine metabolic process	IEA
GO:0150172	Process	Regulation of phosphatidylcholine metabolic process	IEA
GO:0150172	Process	Regulation of phosphatidylcholine metabolic process	IMP	26005868
GO:0150172	Process	Regulation of phosphatidylcholine metabolic process	ISS
GO:0150175	Process	Regulation of phosphatidylethanolamine metabolic process	IEA
GO:0150175	Process	Regulation of phosphatidylethanolamine metabolic process	ISS
GO:0150178	Process	Regulation of phosphatidylserine metabolic process	IEA
GO:0150178	Process	Regulation of phosphatidylserine metabolic process	ISS
GO:1901480	Function	Oleate transmembrane transporter activity	IMP	26005865
GO:1990379	Process	Lipid transport across blood-brain barrier	IBA
GO:1990379	Process	Lipid transport across blood-brain barrier	IEA
GO:1990379	Process	Lipid transport across blood-brain barrier	IMP	26005865
GO:1990379	Process	Lipid transport across blood-brain barrier	ISS
GO:1990403	Process	Embryonic brain development	ISS
GO:1990963	Process	Establishment of blood-retinal barrier	ISS

Other IDs

• MIM: 614397
• HGNC: 25897
• e!Ensembl: ENSG00000168389

Protein

• UniProt ID: Q8NA29
• Protein name: Sodium-dependent lysophosphatidylcholine symporter 1 (NLS1) (Sodium-dependent LPC symporter 1) (Major facilitator superfamily domain-containing protein 2A) (HsMFSD2A) (MFSD2a)
• Protein function: Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (PubMed:24828040, PubMed:32572202, PubMed:34135507). Specifically expressed in endothelium of the blood-brain
• PDB: 7OIX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13347	MFS_2	48 → 509		Family

• Tissue specificity: TISSUE SPECIFICITY: In placenta, associated with trophoblast cells. {ECO:0000269|PubMed:18988732}.
• Sequence:

  MAKGEGAESGSAAGLLPTSILQSTERPAQVKKEPKKKKQQLSVCNKLCYALGGAPYQVTG
  CALGFFLQIYLLDVAQKDEEVVFCFSSFQVGPFSASIILFVGRAWDAITDPLVGLCISKS
  PWTCLGRLMPWIIFSTPLAVIAYFLIWFVPDFPHGQTYWYLLFYCLFETMVTCFHVPYSA
  LTMFISTEQTERDSATAYRMTVEVLGTVLGTAIQGQIVGQADTPCFQDLNSSTVASQSAN
  HTHGTTSHRETQKAYLLAAGVIVCIYIICAVILILGVREQREPYEAQQSEPIAYFRGLRL
  VMSHGPYIKLITGFLFTSLAFMLVEGNFVLFCTYTLGFRNEFQNLLLAIMLSATLTIPIW
  QWFLTRFGKKTAVYVGISSAVPFLILVALMESNLIITYAVAVAAGISVAAAFLLPWSMLP
  DVIDDFHLKQPHFHGTEPIFFSFYVFFTKFASGVSLGISTLSLDFAGYQTRGCSQPERVK
  FTLNMLVTMAPIVLILLGLLLFKMYPIDEERRRQNKKALQALRDEASSSGCSETDSTELA
  SIL

• Sequence length: 543

Pathways

Reactome:

Synthesis of PC

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
Microcephaly 15, primary, autosomal recessive	Pathogenic; Likely pathogenic	rs2124782476, rs1278119822, rs758953000, rs1057517688, rs1057519087, rs571640983	RCV002274820 RCV002274821 RCV002274822 RCV000412568 RCV000412513 RCV000681553	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTORCHIDISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROSS MOTOR DEVELOPMENT DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MFSD2A-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ 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
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	17145094, 20236515		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	12955080		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31861865, 36334414	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31746246		★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	32572202	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	ORPHANET_DG	26005865, 26005868		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	32572202	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	40644891	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31584009	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20236515, 21736709		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	32572202	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28827082		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	36334414	Inhibit	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32572202	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32117064	Inhibit	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslalia	Dyslalia	CTD_human_DG	26005865		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	31584009	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	31545471		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26005865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	CTD_human_DG	26005865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lewy Body Disease	Lewy body disease	Pubtator	37463072	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31584009		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17145094, 21736709	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	20236515, 21736709		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20236515, 21736709		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23349019, 30292405		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30292405		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	26005865		★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 1	Intellectual developmental disorder	Pubtator	32117064	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	26005865, 26005868, 26111510, 30043326, 30074985		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Microcephaly	CTD_human_DG	26005865, 26005868		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Microcephaly	Pubtator	32117064, 32572202	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Microcephaly	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	GENOMICS_ENGLAND_DG	12046007, 26005865		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	UNIPROT_DG	26005865, 26005868		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microlissencephaly	Microlissencephaly	CTD_human_DG	26005865, 26005868		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	37894766	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20236515, 21736709, 23349019, 29844613, 30292405		★☆☆☆☆ Found in Text Mining only
NEU-LAXOVA SYNDROME 2	Neu-Laxova Syndrome	BEFREE	28222746		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31722334		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33321178	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36371454	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 2A	Osteogenesis imperfecta	Pubtator	32572202	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 2A	Osteogenesis imperfecta	Pubtator	32572202	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	26005865		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29802336		★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	26005865, 26005868		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	CTD_human_DG	26005865		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23349019, 30292405		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28827082		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only