FA2H (fatty acid 2-hydroxylase)

Gene

• Entrez ID: 79152
• Gene name: Fatty acid 2-hydroxylase
• Gene symbol: FA2H
• Synonyms (NCBI Gene): FAAH, FAH1, FAXDC1, SCS7, SPG35
• Chromosome: 16
• Chromosome location: 16q23.1
• Summary: This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification o

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918217	C>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs147632811	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199815871	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, missense variant, coding sequence variant
rs372350326	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs387907039	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs387907040	G>A	Pathogenic	Missense variant, coding sequence variant
rs387907172	A>G	Pathogenic	Missense variant, coding sequence variant
rs587776891	GT>-	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs758814013	T>A,C	Likely-pathogenic	Genic downstream transcript variant, terminator codon variant, stop lost
rs759947457	ATGTCCTGGCCCGCCCTG>-	Pathogenic	Inframe deletion, genic upstream transcript variant, coding sequence variant
rs761645282	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs765086319	G>A	Pathogenic	Coding sequence variant, stop gained
rs774131656	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs794729214	CCTGGCCCGC>-,CCTGGCCCGCCCTGGCCCGC	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794729215	G>A,C,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, synonymous variant
rs863224870	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs878855081	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs878855083	AG>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs957683798	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1057518032	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1247665387	C>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1268722908	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1274600570	C>A,G,T	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs1308764899	A>C,G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs1567632441	C>T	Likely-pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs1567633766	C>T	Pathogenic	Splice donor variant
rs1597556143	AGGTACCTTGTCCCAATCCACCACTTTGAACC>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1597577795	->C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT734936	hsa-miR-300	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	33344772
MIRT974782	hsa-miR-1205	CLIP-seq
MIRT974783	hsa-miR-1207-5p	CLIP-seq
MIRT974784	hsa-miR-1297	CLIP-seq
MIRT974785	hsa-miR-1908	CLIP-seq
MIRT974786	hsa-miR-1909	CLIP-seq
MIRT974787	hsa-miR-2110	CLIP-seq
MIRT974788	hsa-miR-26a	CLIP-seq
MIRT974789	hsa-miR-26b	CLIP-seq
MIRT974790	hsa-miR-299-5p	CLIP-seq
MIRT974791	hsa-miR-3126-3p	CLIP-seq
MIRT974792	hsa-miR-3149	CLIP-seq
MIRT974793	hsa-miR-3150a-3p	CLIP-seq
MIRT974794	hsa-miR-3151	CLIP-seq
MIRT974795	hsa-miR-3154	CLIP-seq
MIRT974796	hsa-miR-3165	CLIP-seq
MIRT974797	hsa-miR-3175	CLIP-seq
MIRT974798	hsa-miR-3179	CLIP-seq
MIRT974799	hsa-miR-3185	CLIP-seq
MIRT974800	hsa-miR-3189-3p	CLIP-seq
MIRT974801	hsa-miR-3202	CLIP-seq
MIRT974802	hsa-miR-340	CLIP-seq
MIRT974803	hsa-miR-3614-5p	CLIP-seq
MIRT974804	hsa-miR-3656	CLIP-seq
MIRT974805	hsa-miR-3667-5p	CLIP-seq
MIRT974806	hsa-miR-3687	CLIP-seq
MIRT974807	hsa-miR-381	CLIP-seq
MIRT974808	hsa-miR-3918	CLIP-seq
MIRT974809	hsa-miR-3929	CLIP-seq
MIRT974810	hsa-miR-4252	CLIP-seq
MIRT974811	hsa-miR-4265	CLIP-seq
MIRT974812	hsa-miR-4283	CLIP-seq
MIRT974813	hsa-miR-4287	CLIP-seq
MIRT974814	hsa-miR-4296	CLIP-seq
MIRT974815	hsa-miR-4322	CLIP-seq
MIRT974816	hsa-miR-4419b	CLIP-seq
MIRT974817	hsa-miR-4427	CLIP-seq
MIRT974818	hsa-miR-4434	CLIP-seq
MIRT974819	hsa-miR-4442	CLIP-seq
MIRT974820	hsa-miR-4447	CLIP-seq
MIRT974821	hsa-miR-4456	CLIP-seq
MIRT974822	hsa-miR-4465	CLIP-seq
MIRT974823	hsa-miR-4472	CLIP-seq
MIRT974824	hsa-miR-4478	CLIP-seq
MIRT974825	hsa-miR-4489	CLIP-seq
MIRT974826	hsa-miR-4506	CLIP-seq
MIRT974827	hsa-miR-4516	CLIP-seq
MIRT974828	hsa-miR-4531	CLIP-seq
MIRT974829	hsa-miR-4640-5p	CLIP-seq
MIRT974830	hsa-miR-4666-3p	CLIP-seq
MIRT974831	hsa-miR-4680-3p	CLIP-seq
MIRT974832	hsa-miR-4685-3p	CLIP-seq
MIRT974833	hsa-miR-4690-3p	CLIP-seq
MIRT974834	hsa-miR-4726-5p	CLIP-seq
MIRT974835	hsa-miR-4743	CLIP-seq
MIRT974836	hsa-miR-4747-5p	CLIP-seq
MIRT974837	hsa-miR-4763-3p	CLIP-seq
MIRT974838	hsa-miR-4780	CLIP-seq
MIRT974839	hsa-miR-4790-3p	CLIP-seq
MIRT974840	hsa-miR-4795-5p	CLIP-seq
MIRT974841	hsa-miR-498	CLIP-seq
MIRT974842	hsa-miR-513b	CLIP-seq
MIRT974843	hsa-miR-555	CLIP-seq
MIRT974844	hsa-miR-568	CLIP-seq
MIRT974845	hsa-miR-615-5p	CLIP-seq
MIRT974846	hsa-miR-623	CLIP-seq
MIRT974847	hsa-miR-645	CLIP-seq
MIRT974848	hsa-miR-663	CLIP-seq
MIRT974849	hsa-miR-665	CLIP-seq
MIRT974850	hsa-miR-939	CLIP-seq
MIRT974783	hsa-miR-1207-5p	CLIP-seq
MIRT974784	hsa-miR-1297	CLIP-seq
MIRT1988815	hsa-miR-1299	CLIP-seq
MIRT1988816	hsa-miR-1827	CLIP-seq
MIRT974786	hsa-miR-1909	CLIP-seq
MIRT1988817	hsa-miR-2355-5p	CLIP-seq
MIRT974788	hsa-miR-26a	CLIP-seq
MIRT974789	hsa-miR-26b	CLIP-seq
MIRT1988818	hsa-miR-296-5p	CLIP-seq
MIRT1988819	hsa-miR-31	CLIP-seq
MIRT1988820	hsa-miR-3126-5p	CLIP-seq
MIRT974792	hsa-miR-3149	CLIP-seq
MIRT1988821	hsa-miR-3612	CLIP-seq
MIRT1988822	hsa-miR-3614-3p	CLIP-seq
MIRT974803	hsa-miR-3614-5p	CLIP-seq
MIRT1988823	hsa-miR-3914	CLIP-seq
MIRT974808	hsa-miR-3918	CLIP-seq
MIRT974810	hsa-miR-4252	CLIP-seq
MIRT974811	hsa-miR-4265	CLIP-seq
MIRT974814	hsa-miR-4296	CLIP-seq
MIRT974815	hsa-miR-4322	CLIP-seq
MIRT1988824	hsa-miR-4443	CLIP-seq
MIRT1988825	hsa-miR-4459	CLIP-seq
MIRT974822	hsa-miR-4465	CLIP-seq
MIRT1988826	hsa-miR-4722-3p	CLIP-seq
MIRT1988827	hsa-miR-4728-5p	CLIP-seq
MIRT1988828	hsa-miR-4753-3p	CLIP-seq
MIRT974837	hsa-miR-4763-3p	CLIP-seq
MIRT1988829	hsa-miR-4782-5p	CLIP-seq
MIRT974841	hsa-miR-498	CLIP-seq
MIRT1988830	hsa-miR-516b	CLIP-seq
MIRT1988831	hsa-miR-548al	CLIP-seq
MIRT974844	hsa-miR-568	CLIP-seq
MIRT1988832	hsa-miR-624	CLIP-seq
MIRT974847	hsa-miR-645	CLIP-seq
MIRT1988833	hsa-miR-650	CLIP-seq
MIRT1988834	hsa-miR-940	CLIP-seq
MIRT1988835	hsa-miR-942	CLIP-seq
MIRT2223203	hsa-miR-101	CLIP-seq
MIRT974783	hsa-miR-1207-5p	CLIP-seq
MIRT1988816	hsa-miR-1827	CLIP-seq
MIRT974786	hsa-miR-1909	CLIP-seq
MIRT974800	hsa-miR-3189-3p	CLIP-seq
MIRT2223204	hsa-miR-3192	CLIP-seq
MIRT1988821	hsa-miR-3612	CLIP-seq
MIRT2223205	hsa-miR-3689a-3p	CLIP-seq
MIRT2223206	hsa-miR-3689c	CLIP-seq
MIRT2223207	hsa-miR-3689d	CLIP-seq
MIRT2223208	hsa-miR-4261	CLIP-seq
MIRT2223209	hsa-miR-4457	CLIP-seq
MIRT1988825	hsa-miR-4459	CLIP-seq
MIRT2223210	hsa-miR-4496	CLIP-seq
MIRT2223211	hsa-miR-4505	CLIP-seq
MIRT2223212	hsa-miR-4716-3p	CLIP-seq
MIRT2223213	hsa-miR-4723-5p	CLIP-seq
MIRT1988827	hsa-miR-4728-5p	CLIP-seq
MIRT974837	hsa-miR-4763-3p	CLIP-seq
MIRT2223214	hsa-miR-485-5p	CLIP-seq
MIRT974842	hsa-miR-513b	CLIP-seq
MIRT1988832	hsa-miR-624	CLIP-seq
MIRT1988833	hsa-miR-650	CLIP-seq
MIRT2223215	hsa-miR-658	CLIP-seq
MIRT1988834	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001949	Process	Sebaceous gland cell differentiation	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IBA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006679	Process	Glucosylceramide biosynthetic process	IEA
GO:0006679	Process	Glucosylceramide biosynthetic process	ISS
GO:0006682	Process	Galactosylceramide biosynthetic process	IEA
GO:0006682	Process	Galactosylceramide biosynthetic process	ISS
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IDA	15337768
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0020037	Function	Heme binding	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0030258	Process	Lipid modification	IEA
GO:0032286	Process	Central nervous system myelin maintenance	IEA
GO:0032287	Process	Peripheral nervous system myelin maintenance	IEA
GO:0042634	Process	Regulation of hair cycle	IEA
GO:0044857	Process	Plasma membrane raft organization	IEA
GO:0044857	Process	Plasma membrane raft organization	ISS
GO:0046513	Process	Ceramide biosynthetic process	IDA	15337768
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061436	Process	Establishment of skin barrier	IMP	17355976
GO:0080132	Function	Fatty acid 2-hydroxylase activity	IBA
GO:0080132	Function	Fatty acid 2-hydroxylase activity	IDA	15337768, 15863841, 22517924
GO:0080132	Function	Fatty acid 2-hydroxylase activity	IEA
GO:0080132	Function	Fatty acid 2-hydroxylase activity	IMP	17355976
GO:0080132	Function	Fatty acid 2-hydroxylase activity	TAS
GO:0120520	Function	Free fatty acid 2-hydroxylase activity	IDA	15337768
GO:0120520	Function	Free fatty acid 2-hydroxylase activity	IEA
GO:0120521	Function	4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase activity	IDA	22517924
GO:1904002	Process	Regulation of sebum secreting cell proliferation	IEA
GO:1904697	Process	Regulation of acinar cell proliferation	IEA

Other IDs

• MIM: 611026
• HGNC: 21197
• e!Ensembl: ENSG00000103089

Protein

• UniProt ID: Q7L5A8
• Protein name: Fatty acid 2-hydroxylase (EC 1.14.18.-) (Fatty acid alpha-hydroxylase) (Fatty acid hydroxylase domain-containing protein 1)
• Protein function: Catalyzes the hydroxylation of free fatty acids at the C-2 position to produce 2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:15337768, PubMed:15863841, PubM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00173	Cyt-b5	12 → 86	Cytochrome b5-like Heme/Steroid binding domain	Domain
  PF04116	FA_hydroxylase	219 → 361	Fatty acid hydroxylase superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes (PubMed:17355976). Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and
• Sequence:

  MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISA
  DLDGPPHRHSANARRWLEQYYVGELRGEQQGSMENEPVALEETQKTDPAMEPRFKVVDWD
  KDLVDWRKPLLWQVGHLGEKYDEWVHQPVTRPIRLFHSDLIEGLSKTVWYSVPIIWVPLV
  LYLSWSYYRTFAQGNVRLFTSFTTEYTVAVPKSMFPGLFMLGTFLWSLIEYLIHRFLFHM
  KPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLVIGVFYLCMQLILPEAVGGTV
  FAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGISTKLWDYCFH
  TLTPEKPHLKTQ

• Sequence length: 372

Pathways

Reactome:

Sphingolipid de novo biosynthesis

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
Cerebellar atrophy	Likely pathogenic	rs1308764899	RCV001003615	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs1225330805, rs765086319, rs372445274	RCV001848434 RCV001847847 RCV001195534	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 35	Likely pathogenic; Pathogenic	rs1210045384, rs1961700181, rs771402018, rs2144606157, rs2144672539, rs1962978958, rs1567633766, rs2144672568, rs753097023, rs2544316692, rs2544316320, rs765086319, rs863224870, rs555874983, rs1567632441, rs1389533007, rs2544344603, rs759947457, rs587776891, rs372350326, rs387907172, rs1268722908, rs957683798, rs1274600570, rs1597556143, rs794729214, rs372445274, rs1429546236, rs1463651673, rs2144601954, rs1410690526	RCV005014392 RCV001780261 RCV001542492 RCV001542493 RCV001580616 RCV003989725 RCV000001098 RCV002246191 RCV002249972 RCV002284305 RCV002468706 RCV002470808 RCV000199368 RCV003388183 RCV003335824 RCV003405002 RCV003448934 RCV000023856 RCV000023858 RCV005018763 RCV000024321 RCV003155224 RCV000578281 RCV000786060 RCV000786061 RCV000989633 RCV000989634 RCV001542494 RCV001250165 RCV003223418 RCV001391537 RCV001391535	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegeneration with brain iron accumulation	Likely pathogenic; Pathogenic	rs372350326, rs915291720	RCV004579546 RCV002265790	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Likely pathogenic; Pathogenic	rs1961700181, rs1962978296, rs2144617221, rs1962978958, rs2144672293, rs753097023, rs2544384008, rs2544312267, rs794729215, rs794729214, rs2544327623, rs878855083, rs763075924, rs2544384375, rs2544327628, rs759947457, rs587776891, rs372350326, rs1268722908, rs1555542889, rs915291720, rs1597556143, rs372445274, rs1429546236, rs1463651673, rs1962974502	RCV001345650 RCV001387014 RCV001936694 RCV001880791 RCV001974657 RCV003094027 RCV003064356 RCV003065571 RCV002624250 RCV001387013 RCV001854843 RCV002710881 RCV000225829 RCV003590622 RCV003750329 RCV003751332 RCV002513206 RCV002513208 RCV000466731 RCV005091208 RCV000539908 RCV000555976 RCV002549731 RCV001859178 RCV001219726 RCV001205551 RCV001245364	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tip-toe gait	Likely pathogenic	rs1308764899	RCV001003615	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FA2H-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	10806398, 31409741		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	28850633		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24811863, 31409741		★☆☆☆☆ Found in Text Mining only
Akinetic-Rigid Variant of Huntington Disease	Akinetic-Rigid Variant Of Huntington Disease	CTD_human_DG	20929960		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	14657172, 32639640, 33810505	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22720070	Stimulate	★☆☆☆☆ Found in Text Mining only
Anarthria speech disorder	Anarthria Speech Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	28570479		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	17943729		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	19659925		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	19659925	Associate	★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	29636670		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	33462180	Inhibit	★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	35064143	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	19103437, 27005594, 27716956, 31184938, 34496065, 35944262, 37222214	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	19607961, 27005594, 29071769, 30226747, 30251159, 30532004, 30688118		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	34496065	Inhibit	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	19607961, 26036940, 27005594, 27346075, 28663121, 29071769, 29695817, 30226747, 30251159, 30532004, 30688118		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	26036940, 30929760, 34496065	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	34496065	Inhibit	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30683918		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28545594		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	31135052, 38275596	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30683918		★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy of the spinal cord	Atrophy of the spinal cord	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	31377429	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31377429		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23799528, 24299421		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	23799528, 24299421, 31398381		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	BEFREE	30446360		★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 35	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bedwetting	Nocturnal enuresis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	20080186, 21658778, 24126189		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	32521537, 35064143	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	22832737	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26808012, 28577869		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23347118, 23374458, 23535410, 25291031	Associate	★☆☆☆☆ Found in Text Mining only
Broca Aphasia	Broca Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	18295974		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	LHGDN	18295974		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	19659925		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	Pubtator	19659925	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	17943729	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37024452	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	31409741		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	21070851		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29408178		★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	17962356		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	22209002		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	31135052	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	30929760	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Prostatitis with Chronic Pelvic Pain Syndrome	Prostatitis With Chronic Pelvic Pain Syndrome	BEFREE	28254462		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	25933444		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19068277, 21592092, 31135052, 38275596	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	31135052	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18493729, 27327245, 28079617		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	22662201, 34531823	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	28850633	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28155016, 28850633		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28850633	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	25933444		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	BEFREE	29935250		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31426688		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31426688		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	18493729, 19053981		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28545594		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	31135052	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	22826533, 24180398, 27005594, 29863609, 30688118		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	27005594, 37222214, 38139281	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	31596431	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	29731129		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20054193, 20056290, 29948652		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	21442624		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	19103437	Associate	★☆☆☆☆ Found in Text Mining only
Disturbance in mood	Mood Disorder	BEFREE	30126012		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	31135052	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	19958092		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	19958092	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	19068277, 20853438, 21592092, 38275596	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	19068277, 21592092, 31135052		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29731129		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	31596431	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	25933444		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	BEFREE	31135052		★☆☆☆☆ Found in Text Mining only
Fatty Acid Hydroxylase-Associated Neurodegeneration	Fatty Acid Hydroxylase Associated Neurodegeneration	GENOMICS_ENGLAND_DG	19068277		★☆☆☆☆ Found in Text Mining only
Fatty Acid Hydroxylase-Associated Neurodegeneration	Fatty Acid Hydroxylase Associated Neurodegeneration	ORPHANET_DG	20853438		★☆☆☆☆ Found in Text Mining only
Fatty acid hydroxylase-associated neurodegeneration	Fatty Acid Hydroxylase Associated Neurodegeneration	Orphanet			★☆☆☆☆ Found in Text Mining only
Fatty Acid Hydroxylase-Associated Neurodegeneration	Fatty Acid Hydroxylase Associated Neurodegeneration	BEFREE	22146942, 29438993, 31837835		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Functional Gastrointestinal Disorders	Functional Gastrointestinal Disorders	BEFREE	17962356		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	LHGDN	17962356		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	17962356	Associate	★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	29745439		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	25933444		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30126274		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21156036	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28577869, 30159798		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28577869, 30159798		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22176552	Inhibit	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	20104589, 24359114, 30446360, 31745725		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	27217339		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	32807182	Associate	★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	17553686, 30513753		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	17553686		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	CTD_human_DG	20929960		★☆☆☆☆ Found in Text Mining only
Huntington Disease, Late Onset	Huntington Disease	CTD_human_DG	20929960		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	21442624		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	35421402	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28437860, 28633967, 29038048, 29621749, 30201316, 30243113, 30502333		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	31135052		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Junctional epidermolysis bullosa	Pubtator	17962356	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24299421		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	GENOMICS_ENGLAND_DG	31135052		★☆☆☆☆ Found in Text Mining only
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	BEFREE	22515743, 23212724		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	21803011, 22403795, 24444427		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	24386448	Inhibit	★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	25933444		★☆☆☆☆ Found in Text Mining only
Juvenile Huntington Disease	Huntington Disease	CTD_human_DG	20929960		★☆☆☆☆ Found in Text Mining only
KUFOR-RAKEB SYNDROME	Kufor-Rakeb Syndrome	BEFREE	22515743		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	30842391	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	19068277, 20104589, 20853438, 21592092, 22691760, 24299421, 31135052		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	19068277, 20853438, 21592092, 31135052	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia	Dysmyelinating Leukodystrophy And Spastic Paraparesis With Or Without Dystonia	GENOMICS_ENGLAND_DG	19068277, 20853438, 22146942, 29903433, 31135052		★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia	Dysmyelinating Leukodystrophy And Spastic Paraparesis With Or Without Dystonia	UNIPROT_DG	19068277, 20104589, 20853438		★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia	Dysmyelinating Leukodystrophy And Spastic Paraparesis With Or Without Dystonia	BEFREE	20104589, 21592092, 22146942, 29438993, 31837835		★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia	Dysmyelinating Leukodystrophy And Spastic Paraparesis With Or Without Dystonia	ORPHANET_DG	20104589		★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia	Dysmyelinating Leukodystrophy And Spastic Paraparesis With Or Without Dystonia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia	Dysmyelinating Leukodystrophy And Spastic Paraparesis With Or Without Dystonia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30324893		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31409741	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	20080186		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26808012, 28577869, 31709178		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20808855		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30738828, 31516595		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17943729, 31214034, 31407888, 31709178		★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	22826533, 24180398, 27005594, 29863609, 30688118		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	21937688, 27131970, 27716956, 30120421		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	24833714		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	22609216		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	22609216		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	29615860, 29740328, 31629892		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	19419760		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	19607961, 20080186		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	31135052, 31191442		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	31135052	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	17329437	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	25270105	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20808855, 23374458, 28155016, 28478515, 30324893, 30738828, 31709178		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29145497, 30688118		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	20853438, 21592092, 22266337, 22691760, 22704260, 25744623, 25870938, 31135052		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21592092, 21599921, 38275596	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21592092, 31514437		★☆☆☆☆ Found in Text Mining only
Neuroferritinopathy	Neuroferritinopathy	BEFREE	22266337		★☆☆☆☆ Found in Text Mining only
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	28545594		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24811863		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15809662, 16186383, 17923791, 18295974, 18426509, 18819056, 19958092, 20044928, 20054193, 20056290, 20102775, 21118518, 22442717, 22609216, 28243972, 29935250, 30129173, 31286394, 31775159		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	16186383, 19103437, 19958092, 20044928, 20054193, 20098695, 21118518, 21477106, 26561012, 32732136, 39940809	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	19103437, 20716455		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24616451	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	18819056, 20054193, 20098695, 26561012		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pain Insensitivity Congenital	Congenital pain insensitivity	Pubtator	30929760, 37222214	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	19068277, 21592092	Associate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	21592092, 27217339, 29376581	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22473870, 27217339, 28826718		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27217339	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	20044928, 20054193		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	26556829	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	28545594		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	28545594		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	23616186, 28132572, 28291580		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	28132572	Inhibit	★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontocerebellar hypoplasia	Pubtator	20853438	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	22832737, 27716956, 30120421, 31590924		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20808855		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18566995, 20808855	Associate	★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	31596431	Associate	★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	27394933		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	23048207		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15721218, 31004320		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	25933444		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	21592092, 22146942		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	20853438, 26556829, 27316240, 29376581, 29980238, 31087769, 36109173, 39304850	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	20104589, 20853438, 22554690, 23566484, 29438993, 30446360, 31135052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30738828, 31516595		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	30738828		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36702852	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	25933444		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31709178		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19053981, 22662201		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	20080186		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	25933444		★☆☆☆☆ Found in Text Mining only