SOD1 (superoxide dismutase 1)

Gene

• Entrez ID: 6647
• Gene name: Superoxide dismutase 1
• Gene symbol: SOD1
• Synonyms (NCBI Gene): ALS, ALS1, HEL-S-44, IPOA, SOD, STAHP, hSod1, homodimer
• Chromosome: 21
• Chromosome location: 21q22.11
• Summary: The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuri

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11556620	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs74315452	T>C	Pathogenic	Missense variant, coding sequence variant
rs76731700	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs80265967	A>C,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs121912431	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121912432	C>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121912433	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912434	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912435	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912436	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121912437	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs121912438	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs121912439	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912440	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121912441	T>C	Pathogenic	Missense variant, coding sequence variant
rs121912443	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912445	A>T	Pathogenic	Missense variant, coding sequence variant
rs121912452	T>C,G	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs121912455	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121912457	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs121912458	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912459	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs369600566	A>G	Pathogenic	Intron variant
rs1197141604	T>G	Pathogenic	Intron variant
rs1301635320	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs1378590183	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555836803	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1568809172	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1568810771	->G	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1601157750	G>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000992	hsa-miR-377-3p	Luciferase reporter assay, Western blot	18716028
MIRT000992	hsa-miR-377-3p	Luciferase reporter assay	21203553
MIRT048056	hsa-miR-197-3p	CLASH	23622248
MIRT043913	hsa-miR-378a-3p	CLASH	23622248
MIRT734538	hsa-miR-6823-5p	Western blotting, qRT-PCR	33649776
MIRT1379147	hsa-miR-1245	CLIP-seq
MIRT1379148	hsa-miR-1245b-3p	CLIP-seq
MIRT1379149	hsa-miR-1284	CLIP-seq
MIRT1379150	hsa-miR-139-5p	CLIP-seq
MIRT1379151	hsa-miR-224	CLIP-seq
MIRT1379152	hsa-miR-300	CLIP-seq
MIRT1379153	hsa-miR-361-5p	CLIP-seq
MIRT1379154	hsa-miR-3658	CLIP-seq
MIRT1379155	hsa-miR-3660	CLIP-seq
MIRT1379156	hsa-miR-3691-3p	CLIP-seq
MIRT1379157	hsa-miR-374c	CLIP-seq
MIRT1379158	hsa-miR-377	CLIP-seq
MIRT1379159	hsa-miR-381	CLIP-seq
MIRT1379160	hsa-miR-3936	CLIP-seq
MIRT1379161	hsa-miR-409-3p	CLIP-seq
MIRT1379162	hsa-miR-4256	CLIP-seq
MIRT1379163	hsa-miR-4275	CLIP-seq
MIRT1379164	hsa-miR-4422	CLIP-seq
MIRT1379165	hsa-miR-4424	CLIP-seq
MIRT1379166	hsa-miR-4470	CLIP-seq
MIRT1379167	hsa-miR-4494	CLIP-seq
MIRT1379168	hsa-miR-4526	CLIP-seq
MIRT1379169	hsa-miR-4666-3p	CLIP-seq
MIRT1379170	hsa-miR-4682	CLIP-seq
MIRT1379171	hsa-miR-4690-5p	CLIP-seq
MIRT1379172	hsa-miR-4714-5p	CLIP-seq
MIRT1379173	hsa-miR-4762-5p	CLIP-seq
MIRT1379174	hsa-miR-4766-5p	CLIP-seq
MIRT1379175	hsa-miR-494	CLIP-seq
MIRT1379176	hsa-miR-499a-5p	CLIP-seq
MIRT1379177	hsa-miR-552	CLIP-seq
MIRT1379178	hsa-miR-582-5p	CLIP-seq
MIRT1379179	hsa-miR-616	CLIP-seq
MIRT1379180	hsa-miR-621	CLIP-seq
MIRT1379181	hsa-miR-655	CLIP-seq
MIRT2113212	hsa-miR-1229	CLIP-seq
MIRT1379147	hsa-miR-1245	CLIP-seq
MIRT1379148	hsa-miR-1245b-3p	CLIP-seq
MIRT1379150	hsa-miR-139-5p	CLIP-seq
MIRT1379151	hsa-miR-224	CLIP-seq
MIRT1379153	hsa-miR-361-5p	CLIP-seq
MIRT1379154	hsa-miR-3658	CLIP-seq
MIRT1379155	hsa-miR-3660	CLIP-seq
MIRT1379156	hsa-miR-3691-3p	CLIP-seq
MIRT1379157	hsa-miR-374c	CLIP-seq
MIRT1379160	hsa-miR-3936	CLIP-seq
MIRT1379161	hsa-miR-409-3p	CLIP-seq
MIRT1379162	hsa-miR-4256	CLIP-seq
MIRT2113213	hsa-miR-4328	CLIP-seq
MIRT1379164	hsa-miR-4422	CLIP-seq
MIRT1379165	hsa-miR-4424	CLIP-seq
MIRT1379167	hsa-miR-4494	CLIP-seq
MIRT1379168	hsa-miR-4526	CLIP-seq
MIRT1379171	hsa-miR-4690-5p	CLIP-seq
MIRT1379172	hsa-miR-4714-5p	CLIP-seq
MIRT1379174	hsa-miR-4766-5p	CLIP-seq
MIRT1379176	hsa-miR-499a-5p	CLIP-seq
MIRT1379177	hsa-miR-552	CLIP-seq
MIRT1379178	hsa-miR-582-5p	CLIP-seq
MIRT1379180	hsa-miR-621	CLIP-seq
MIRT1379181	hsa-miR-655	CLIP-seq
MIRT2113212	hsa-miR-1229	CLIP-seq
MIRT1379147	hsa-miR-1245	CLIP-seq
MIRT1379148	hsa-miR-1245b-3p	CLIP-seq
MIRT1379149	hsa-miR-1284	CLIP-seq
MIRT1379150	hsa-miR-139-5p	CLIP-seq
MIRT1379151	hsa-miR-224	CLIP-seq
MIRT1379152	hsa-miR-300	CLIP-seq
MIRT2336333	hsa-miR-3163	CLIP-seq
MIRT1379153	hsa-miR-361-5p	CLIP-seq
MIRT1379154	hsa-miR-3658	CLIP-seq
MIRT1379156	hsa-miR-3691-3p	CLIP-seq
MIRT1379158	hsa-miR-377	CLIP-seq
MIRT1379159	hsa-miR-381	CLIP-seq
MIRT1379160	hsa-miR-3936	CLIP-seq
MIRT1379161	hsa-miR-409-3p	CLIP-seq
MIRT1379163	hsa-miR-4275	CLIP-seq
MIRT2113213	hsa-miR-4328	CLIP-seq
MIRT1379165	hsa-miR-4424	CLIP-seq
MIRT1379167	hsa-miR-4494	CLIP-seq
MIRT1379169	hsa-miR-4666-3p	CLIP-seq
MIRT2336334	hsa-miR-4679	CLIP-seq
MIRT1379171	hsa-miR-4690-5p	CLIP-seq
MIRT1379173	hsa-miR-4762-5p	CLIP-seq
MIRT1379176	hsa-miR-499a-5p	CLIP-seq
MIRT2336335	hsa-miR-548a-3p	CLIP-seq
MIRT2336336	hsa-miR-548e	CLIP-seq
MIRT2336337	hsa-miR-548f	CLIP-seq
MIRT1379177	hsa-miR-552	CLIP-seq
MIRT1379178	hsa-miR-582-5p	CLIP-seq
MIRT1379180	hsa-miR-621	CLIP-seq
MIRT1379150	hsa-miR-139-5p	CLIP-seq
MIRT1379153	hsa-miR-361-5p	CLIP-seq
MIRT1379154	hsa-miR-3658	CLIP-seq
MIRT1379161	hsa-miR-409-3p	CLIP-seq
MIRT1379171	hsa-miR-4690-5p	CLIP-seq
MIRT1379178	hsa-miR-582-5p	CLIP-seq
MIRT1379180	hsa-miR-621	CLIP-seq
MIRT2113212	hsa-miR-1229	CLIP-seq
MIRT1379147	hsa-miR-1245	CLIP-seq
MIRT2630214	hsa-miR-1264	CLIP-seq
MIRT1379149	hsa-miR-1284	CLIP-seq
MIRT1379152	hsa-miR-300	CLIP-seq
MIRT2630215	hsa-miR-3128	CLIP-seq
MIRT2336333	hsa-miR-3163	CLIP-seq
MIRT2630216	hsa-miR-340	CLIP-seq
MIRT1379155	hsa-miR-3660	CLIP-seq
MIRT1379156	hsa-miR-3691-3p	CLIP-seq
MIRT1379157	hsa-miR-374c	CLIP-seq
MIRT1379159	hsa-miR-381	CLIP-seq
MIRT1379162	hsa-miR-4256	CLIP-seq
MIRT2113213	hsa-miR-4328	CLIP-seq
MIRT1379166	hsa-miR-4470	CLIP-seq
MIRT1379168	hsa-miR-4526	CLIP-seq
MIRT1379169	hsa-miR-4666-3p	CLIP-seq
MIRT2630217	hsa-miR-4677-3p	CLIP-seq
MIRT2336334	hsa-miR-4679	CLIP-seq
MIRT1379170	hsa-miR-4682	CLIP-seq
MIRT2630218	hsa-miR-4720-5p	CLIP-seq
MIRT1379173	hsa-miR-4762-5p	CLIP-seq
MIRT2630219	hsa-miR-4799-3p	CLIP-seq
MIRT1379175	hsa-miR-494	CLIP-seq
MIRT2336335	hsa-miR-548a-3p	CLIP-seq
MIRT2336336	hsa-miR-548e	CLIP-seq
MIRT2336337	hsa-miR-548f	CLIP-seq
MIRT1379177	hsa-miR-552	CLIP-seq
MIRT1379179	hsa-miR-616	CLIP-seq
MIRT1379181	hsa-miR-655	CLIP-seq
MIRT2630220	hsa-miR-660	CLIP-seq
MIRT1379147	hsa-miR-1245	CLIP-seq
MIRT2630214	hsa-miR-1264	CLIP-seq
MIRT1379149	hsa-miR-1284	CLIP-seq
MIRT1379152	hsa-miR-300	CLIP-seq
MIRT2630215	hsa-miR-3128	CLIP-seq
MIRT2336333	hsa-miR-3163	CLIP-seq
MIRT2630216	hsa-miR-340	CLIP-seq
MIRT1379155	hsa-miR-3660	CLIP-seq
MIRT1379156	hsa-miR-3691-3p	CLIP-seq
MIRT1379157	hsa-miR-374c	CLIP-seq
MIRT1379159	hsa-miR-381	CLIP-seq
MIRT1379162	hsa-miR-4256	CLIP-seq
MIRT2113213	hsa-miR-4328	CLIP-seq
MIRT1379166	hsa-miR-4470	CLIP-seq
MIRT1379168	hsa-miR-4526	CLIP-seq
MIRT1379169	hsa-miR-4666-3p	CLIP-seq
MIRT2630217	hsa-miR-4677-3p	CLIP-seq
MIRT2336334	hsa-miR-4679	CLIP-seq
MIRT1379170	hsa-miR-4682	CLIP-seq
MIRT2630218	hsa-miR-4720-5p	CLIP-seq
MIRT1379173	hsa-miR-4762-5p	CLIP-seq
MIRT2630219	hsa-miR-4799-3p	CLIP-seq
MIRT1379175	hsa-miR-494	CLIP-seq
MIRT2336335	hsa-miR-548a-3p	CLIP-seq
MIRT2336336	hsa-miR-548e	CLIP-seq
MIRT2336337	hsa-miR-548f	CLIP-seq
MIRT1379177	hsa-miR-552	CLIP-seq
MIRT1379179	hsa-miR-616	CLIP-seq
MIRT1379181	hsa-miR-655	CLIP-seq
MIRT2630220	hsa-miR-660	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPD	Activation	20385105
EGR1	Activation	9867871
KLF4	Repression	23370975
MSX2	Activation	22824755
MTF1	Activation	15378601
NFE2L2	Activation	22493435
PPARD	Activation	18048767
SP1	Activation	8921911;9867871
SP1	Repression	11724400

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000302	Process	Response to reactive oxygen species	IEA
GO:0000303	Process	Response to superoxide	IDA	16790527
GO:0000303	Process	Response to superoxide	IEA
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001541	Process	Ovarian follicle development	ISS
GO:0001819	Process	Positive regulation of cytokine production	IDA	15544046
GO:0001890	Process	Placenta development	NAS	12485882
GO:0001895	Process	Retina homeostasis	IEA
GO:0001895	Process	Retina homeostasis	ISS
GO:0001975	Process	Response to amphetamine	IEA
GO:0002262	Process	Myeloid cell homeostasis	IEA
GO:0002262	Process	Myeloid cell homeostasis	ISS
GO:0004784	Function	Superoxide dismutase activity	IBA
GO:0004784	Function	Superoxide dismutase activity	IDA	12551919, 15544046, 17324120, 24140062, 24567322
GO:0004784	Function	Superoxide dismutase activity	IEA
GO:0005507	Function	Copper ion binding	IBA
GO:0005507	Function	Copper ion binding	IDA	17008312
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12968035, 16369483, 16595634, 16790527, 19171884, 20195357, 21252941, 22508683, 24023695, 24234043, 24981860, 26643113, 28514442, 29128334, 31292775, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	9453566
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	1332049, 9726962, 17504823, 22496122, 24023695
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	1332049, 9726962, 11527942, 17077646, 17504823, 18809582, 19741096, 24023695, 24784232
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	16790527, 19741096
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0005759	Component	Mitochondrial matrix	NAS	17008312
GO:0005764	Component	Lysosome	IEA
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	1332049
GO:0005777	Component	Peroxisome	IEA
GO:0005777	Component	Peroxisome	ISS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	16790527
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	17077646, 17324120
GO:0006749	Process	Glutathione metabolic process	IEA
GO:0006749	Process	Glutathione metabolic process	ISS
GO:0006801	Process	Superoxide metabolic process	IDA	12551919
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0006801	Process	Superoxide metabolic process	ISS
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007566	Process	Embryo implantation	IEA
GO:0007566	Process	Embryo implantation	ISS
GO:0007566	Process	Embryo implantation	NAS	10920331
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	ISS
GO:0007626	Process	Locomotory behavior	IEA
GO:0007626	Process	Locomotory behavior	ISS
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS	20510358
GO:0008090	Process	Retrograde axonal transport	IEA
GO:0008090	Process	Retrograde axonal transport	ISS	20510358
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0008270	Function	Zinc ion binding	IDA	17381088
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0009408	Process	Response to heat	IEA
GO:0009408	Process	Response to heat	ISS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016209	Function	Antioxidant activity	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019226	Process	Transmission of nerve impulse	IEA
GO:0019226	Process	Transmission of nerve impulse	ISS
GO:0019228	Process	Neuronal action potential	IEA
GO:0019430	Process	Removal of superoxide radicals	IBA
GO:0019430	Process	Removal of superoxide radicals	IDA	16254550, 24567322
GO:0019430	Process	Removal of superoxide radicals	IEA
GO:0019430	Process	Removal of superoxide radicals	IEA
GO:0019430	Process	Removal of superoxide radicals	ISS
GO:0019899	Function	Enzyme binding	IEA
GO:0030141	Component	Secretory granule	IEA
GO:0030346	Function	Protein phosphatase 2B binding	IDA	17324120
GO:0030346	Function	Protein phosphatase 2B binding	IEA
GO:0031045	Component	Dense core granule	IEA
GO:0031267	Function	Small GTPase binding	IDA	18219391
GO:0031410	Component	Cytoplasmic vesicle	IDA	17077646
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032287	Process	Peripheral nervous system myelin maintenance	IEA
GO:0032287	Process	Peripheral nervous system myelin maintenance	ISS
GO:0032839	Component	Dendrite cytoplasm	IDA	17324120
GO:0032930	Process	Positive regulation of superoxide anion generation	IDA	18219391
GO:0032991	Component	Protein-containing complex	IDA	17324120
GO:0032991	Component	Protein-containing complex	IEA
GO:0033081	Process	Regulation of T cell differentiation in thymus	NAS	16716898
GO:0034465	Process	Response to carbon monoxide	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035234	Process	Ectopic germ cell programmed cell death	IEA
GO:0035865	Process	Cellular response to potassium ion	IEA
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0040014	Process	Regulation of multicellular organism growth	ISS
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0042542	Process	Response to hydrogen peroxide	ISS
GO:0042554	Process	Superoxide anion generation	IEA
GO:0042802	Function	Identical protein binding	IPI	17592131, 19022905, 19171884, 19369197, 19828437, 21257910, 23831581, 26643113, 31999698
GO:0042803	Function	Protein homodimerization activity	IPI	24567322
GO:0043025	Component	Neuronal cell body	IDA	17324120
GO:0043025	Component	Neuronal cell body	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IC	16790527
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043087	Process	Regulation of GTPase activity	IDA	18219391
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0045471	Process	Response to ethanol	IEA
GO:0045471	Process	Response to ethanol	ISS
GO:0046620	Process	Regulation of organ growth	NAS	16716898
GO:0046688	Process	Response to copper ion	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048538	Process	Thymus development	NAS	16716898
GO:0048678	Process	Response to axon injury	IEA
GO:0048678	Process	Response to axon injury	ISS
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IDA	15544046
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IEA
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IEA
GO:0050665	Process	Hydrogen peroxide biosynthetic process	ISS
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0051087	Function	Protein-folding chaperone binding	IPI	9726962
GO:0051093	Process	Negative regulation of developmental process	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	16790527
GO:0060047	Process	Heart contraction	IDA	9539776
GO:0060047	Process	Heart contraction	IEA
GO:0060052	Process	Neurofilament cytoskeleton organization	IEA
GO:0060052	Process	Neurofilament cytoskeleton organization	ISS
GO:0060087	Process	Relaxation of vascular associated smooth muscle	IEA
GO:0060087	Process	Relaxation of vascular associated smooth muscle	ISS
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071276	Process	Cellular response to cadmium ion	IEA
GO:0071318	Process	Cellular response to ATP	IEA
GO:0072593	Process	Reactive oxygen species metabolic process	IDA	24140062
GO:0097332	Process	Response to antipsychotic drug	IEA
GO:0099610	Process	Action potential initiation	IEA
GO:1902177	Process	Positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP	12551919
GO:1904115	Component	Axon cytoplasm	IEA
GO:2000242	Process	Negative regulation of reproductive process	IEA

Other IDs

• MIM: 147450
• HGNC: 11179
• e!Ensembl: ENSG00000142168

Protein

• UniProt ID: P00441
• Protein name: Superoxide dismutase [Cu-Zn] (EC 1.15.1.1) (Superoxide dismutase 1) (hSod1)
• Protein function: Destroys radicals which are normally produced within the cells and which are toxic to biological systems.
• PDB: 1AZV, 1BA9, 1DSW, 1FUN, 1HL4, 1HL5, 1KMG, 1L3N, 1MFM, 1N18, 1N19, 1OEZ, 1OZT, 1OZU, 1P1V, 1PTZ, 1PU0, 1RK7, 1SOS, 1SPD, 1UXL, 1UXM, 2AF2, 2C9S, 2C9U, 2C9V, 2GBT, 2GBU, 2GBV, 2LU5, 2MP3, 2NAM, 2NNX, 2R27, 2V0A, 2VR6, 2VR7, 2VR8, 2WKO, 2WYT, 2WYZ, 2WZ0, 2WZ5, 2WZ6, 2XJK, 2XJL, 2ZKW, 2ZKX, 2ZKY, 3CQP, 3CQQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00080	Sod_Cu	9 → 150	Copper/zinc superoxide dismutase (SODC)	Domain

• Sequence:

  MATKAVCVLKGDGPVQGIINFEQKESNGPVKVWGSIKGLTEGLHGFHVHEFGDNTAGCTS
  AGPHFNPLSRKHGGPKDEERHVGDLGNVTADKDGVADVSIEDSVISLSGDHCIIGRTLVV
  HEKADDLGKGGNEESTKTGNAGSRLACGVIGIAQ

• Sequence length: 154

Pathways

KEGG:

Peroxisome
Longevity regulating pathway - multiple species
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species

Reactome:

Platelet degranulation
Detoxification of Reactive Oxygen Species
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation

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
Abnormal central motor function	Likely pathogenic	rs121912445	RCV001813991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis	Likely pathogenic; Pathogenic	rs2123437030, rs121912443, rs76731700, rs1378590183	RCV001843934 RCV001843454 RCV001843542 RCV000857231	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis 1, autosomal recessive	Likely pathogenic	rs121912445	RCV000015890	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis type 1	Likely pathogenic; Pathogenic	rs1568809169, rs1568810316, rs1027128618, rs1568810715, rs1568811366, rs121912438, rs1568811454, rs1280042397, rs1131690781, rs1555836169, rs121912453, rs1424014997, rs1568807400, rs1457889952, rs1312702973, rs1202989817, rs1568810275, rs567511139, rs1568807297, rs1555836520, rs1601158483, rs1568810789, rs121912454, rs1568811426, rs1568811515, rs1568810686, rs121912441, rs1568807314, rs1568811489, rs750335577, rs2516660280, rs121912437, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs369600566, rs121912456, rs121912457, rs121912458, rs1555836889, rs1169198442, rs11556620, rs1555836950, rs76731700, rs1200906022, rs1804449, rs1482760341, rs1555836803, rs1378590183, rs1601157750, rs1301635320, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs1164911383	RCV001318269 RCV001332469 RCV001374388 RCV001377993 RCV001378934 RCV001384618 RCV001882562 RCV002568339 RCV001866126 RCV001976221 RCV001958950 RCV001971733 RCV001942245 RCV002029618 RCV001978284 RCV002015993 RCV002016002 RCV002016007 RCV002249177 RCV002290075 RCV003517366 RCV003064620 RCV003041393 RCV003064621 RCV003064622 RCV003064624 RCV003064625 RCV003064626 RCV002624691 RCV000178103 RCV002605188 RCV002810765 RCV002862104 RCV002933812 RCV003517499 RCV003518824 RCV000015874 RCV000015875 RCV000015876 RCV000015877 RCV000015878 RCV000015879 RCV000015880 RCV000015881 RCV000015882 RCV000015883 RCV000015884 RCV000015885 RCV000015886 RCV000015887 RCV000015891 RCV000015892 RCV000015893 RCV000015894 RCV000015895 RCV000015896 RCV000015897 RCV000015898 RCV000015899 RCV000015900 RCV000015901 RCV000015903 RCV000015904 RCV000015905 RCV000015907 RCV000015909 RCV003628666 RCV003994640 RCV000529591 RCV000644456 RCV000664220 RCV000696225 RCV001386880 RCV001861989 RCV000808273 RCV000853537 RCV001858533 RCV001858765 RCV002290508 RCV000995880 RCV001065949 RCV001061075 RCV001064307 RCV001095541 RCV001095542 RCV001095543 RCV001095393 RCV001095394 RCV001095395 RCV001095397 RCV001095398 RCV001095400 RCV001095401 RCV002560266 RCV001203287 RCV001250175	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Amyotrophic lateral sclerosis type 10	Pathogenic	rs121912435	RCV002463588	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb muscle weakness	Pathogenic	rs121912446	RCV006252552	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor neuron disease	Likely pathogenic; Pathogenic	rs121912441, rs1131690781, rs121912431, rs121912439, rs121912437	RCV000492500 RCV000492706 RCV000492487 RCV000492233 RCV000492720	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SOD1-related disorder	Likely pathogenic; Pathogenic	rs1424014997, rs1457889952, rs1568807297, rs121912441, rs121912437, rs121912435, rs121912440, rs121912436, rs121912442, rs121912443, rs121912446, rs1482760341	RCV004746543 RCV003408051 RCV004747185 RCV003398894 RCV003408685 RCV003398522 RCV003390685 RCV004745157 RCV003390686 RCV004745158 RCV004745159 RCV004745565 RCV003413982	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic tetraplegia and axial hypotonia, progressive	Likely pathogenic; Pathogenic	rs2123435651, rs121912441, rs121912433, rs1568810771, rs1555836170, rs1315541036, rs121912436	RCV001553779 RCV004767120 RCV002496378 RCV000851539 RCV005036375 RCV005409768 RCV001199223	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adult onset neurodegenerative disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 10	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Dominant	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, IRON-DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIA NEONATORUM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE AMYOTROPHIC LATERAL SCLEROSIS TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONNEVIE-ULLRICH SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL COORDINATION DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOWN SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR SKILLS DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTHER SPECIFIED IRON DEFICIENCY ANEMIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARALYSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY HYPERTHYROIDISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRION DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY OF PREMATURITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT ISCHEMIC ATTACK	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TURNER SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL CALCULI	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	BEFREE	31448393		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	29046499	Associate	★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	10698074		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	28885000		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	30914000		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	17823119		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	12447480, 17056476		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17409931		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	28808400		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21930909		★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	22860700		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	19142872, 20206286, 22072713, 27810364, 27935234		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	23942216		★☆☆☆☆ Found in Text Mining only
Alpers Syndrome (disorder)	Alpers Syndrome	BEFREE	29214883		★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	26699812		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19478559, 22009041, 22242180, 26166206, 30068908, 31370365, 32485097, 40691194, 8546216	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease type 1	Alzheimer disease	BEFREE	2923930		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	15016076		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	22072713		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	20111867, 22678056, 29649360, 31088292		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	10025816, 10930589, 11220737, 11590119, 11723166, 12586733, 12626432, 16495328, 17097207, 17319283, 17496168, 18233996, 19635794, 19929749, 20132483, 20177826, 20348957, 20515040, 21867702, 23583883, 24885036, 25164820, 30503815, 7887412, 9065559		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10082867, 10086395, 10090670, 10195180, 10202988, 10223416, 10321246, 10327155, 10349851, 10375685, 10439968, 10496267, 10540007, 10545780, 10578106, 10582606, 10593879, 10595524, 10630188, 10677867, 10724110, 10726972, 10732812, 10737125, 10737598, 10737625, 10764647, 10783145, 10793232, 10793233, 10809943, 10869061, 10896029, 10930589, 10961653, 10964497, 10965797, 10976937, 11050249, 11078211, 11090857, 11090858, 11096437, 11108968, 11127534, 11220750, 11278741, 11284995, 11311985, 11346368, 11369193, 11408340, 11442322, 11442323, 11461956, 11469788, 11522944, 11535232, 11561030, 11676989, 11706389, 11717358, 11719252, 11724913, 11732278, 11732279, 11741389, 11761470, 11790392, 11818550, 11854284, 11870681, 11874201, 11886899, 11898502, 11928897, 11991808, 12067230, 12077002, 12093078, 12111360, 12124437, 12210393, 12354390, 12356748, 12358759, 12392756, 12402272, 12423246, 12437574, 12441104, 12442272, 12458194, 12467894, 12480087, 12482932, 12507415, 12514200, 12564775, 12574946, 12595144, 12629173, 12630951, 12642616, 12655070, 12657672, 12668759, 12684256, 12699776, 12707786, 12757887, 12770687, 12773627, 12840784, 12843244, 12843283, 12858291, 12864925, 12934714, 12951233, 12967646, 14500553, 14526083, 14534160, 14568347, 14583292, 14623129, 14623191, 14625013, 14636160, 14694044, 14705124, 14715277, 14736504, 14756802, 14970233, 14981234, 14989597, 15009685, 15033338, 15034571, 15034941, 15050437, 15109247, 15164063, 15170611, 15184633, 15198682, 15233913, 15233914, 15245475, 15294873, 15350647, 15371748, 15379894, 15379995, 15389897, 15456787, 15475574, 15488469, 15495240, 15519671, 15538967, 15568021, 15579165, 15623718, 15626820, 15634772, 15634778, 15657798, 15663483, 15672551, 15679043, 15691215, 15691826, 15704143, 15753080, 15758154, 15768028, 15768029, 15789135, 15799963, 15802861, 15812313, 15827116, 15843422, 15862714, 15870071, 15885796, 15899257, 15911875, 15958382, 15965076, 15983830, 15987780, 16024047, 16035108, 16046141, 16049935, 16084104, 16084730, 16093455, 16106213, 16107368, 16120782, 16125275, 16174551, 16216923, 16221675, 16240349, 16242126, 16262676, 16309674, 16320313, 16330499, 16342121, 16356650, 16369483, 16371010, 16376995, 16382787, 16410746, 16412993, 16435343, 16461917, 16469270, 16476815, 16495328, 16540243, 16566922, 16571896, 16598672, 16603792, 16616851, 16624935, 16636274, 16636275, 16730180, 16740261, 16771675, 16781706, 16793335, 16798882, 16806187, 16814528, 16847061, 16857362, 16902995, 16903849, 16909019, 16920710, 16925593, 16928982, 16943203, 16952453, 16963403, 16973300, 17034351, 17039409, 17039410, 17039412, 17097207, 17099894, 17164329, 17166276, 17208444, 17215390, 17241118, 17250677, 17257622, 17268853, 17277077, 17299743, 17300945, 17303436, 17394531, 17403032, 17403682, 17418584, 17432958, 17433298, 17435755, 17439481, 17439705, 17448900, 17453632, 17462671, 17469116, 17486090, 17510731, 17513298, 17538774, 17543992, 17592131, 17593875, 17597610, 17597611, 17603925, 17624778, 17636250, 17636481, 17683122, 17725983, 17766128, 17786603, 17804640, 17823119, 17868365, 17903209, 17913710, 17916583, 17979159, 17987632, 17997855, 18000159, 18004513, 18022844, 18026741, 18054961, 18055113, 18074357, 18081837, 18180444, 18192269, 18211954, 18219386, 18233996, 18268245, 18282652, 18301754, 18305242, 18312546, 18319614, 18332255, 18337307, 18337461, 18344992, 18367449, 18370853, 18378676, 18384644, 18396105, 18409196, 18424447, 18428003, 18440237, 18469020, 18485920, 18504130, 18515363, 18519638, 18552350, 18574763, 18579581, 18586098, 18596033, 18608088, 18608099, 18624915, 18640245, 18648532, 18651250, 18652897, 18673445, 18682740, 18683239, 18695162, 18702691, 18712292, 18718468, 18759352, 18761352, 18824029, 18826962, 18852346, 18931666, 18945894, 18955116, 18973555, 18997009, 19000626, 19038252, 19041780, 19041781, 19050293, 19060114, 19071115, 19074031, 19077113, 19091752, 19096133, 19104447, 19116365, 19139308, 19176896, 19179380, 19196430, 19233858, 19236453, 19259395, 19259649, 19266020, 19271992, 19293633, 19296491, 19299510, 19322031, 19332692, 19344250, 19355908, 19379791, 19399611, 19405049, 19418268, 19428804, 19438725, 19439221, 19465477, 19477268, 19478559, 19483195, 19488901, 19495873, 19567404, 19576169, 19595710, 19596401, 19596823, 19618436, 19635794, 19651777, 19660174, 19660548, 19670443, 19685200, 19699279, 19703565, 19715760, 19726402, 19734218, 19751676, 19757209, 19760257, 19765193, 19770042, 19779023, 19797764, 19798750, 19800308, 19805550, 19815002, 19828728, 19879334, 19879358, 19888600, 19922126, 19922144, 19922450, 19925559, 19929749, 19953340, 19955354, 19965850, 19965854, 19968977, 19969067, 20005223, 20008901, 20060132, 20075202, 20079427, 20095022, 20111867, 20132478, 20152807, 20176600, 20177826, 20184521, 20184893, 20189984, 20202083, 20202124, 20232802, 20309572, 20334883, 20348957, 20362558, 20367259, 20370663, 20385392, 20399791, 20399857, 20404910, 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28342750, 28344074, 28348221, 28351750, 28357805, 28366453, 28377462, 28401346, 28405022, 28447863, 28449871, 28458007, 28463106, 28475686, 28480639, 28490573, 28508041, 28527045, 28528135, 28539470, 28549443, 28553327, 28558143, 28566164, 28571556, 28576725, 28585802, 28588226, 28592858, 28596290, 28603486, 28612258, 28666328, 28680046, 28680391, 28694091, 28705085, 28709720, 28710685, 28711596, 28715630, 28752900, 28759048, 28760994, 28782426, 28794127, 28797631, 28809841, 28844763, 28847504, 28850080, 28852382, 28856708, 28859334, 28859526, 28861673, 28861801, 28864407, 28864422, 28864831, 28872911, 28872914, 28890043, 28891518, 28904095, 28912673, 28936769, 28950184, 28952073, 28973175, 28974578, 28975435, 28975502, 28980850, 28980860, 29024785, 29030231, 29030576, 29035885, 29053667, 29064456, 29104236, 29104532, 29118923, 29140847, 29149916, 29154141, 29170628, 29191947, 29196813, 29250069, 29266834, 29278738, 29279867, 29282717, 29299811, 29307609, 29311743, 29335339, 29349657, 29358076, 29358575, 29367447, 29369331, 29371591, 29373921, 29394243, 29398122, 29400109, 29408267, 29409023, 29416499, 29425965, 29431095, 29443939, 29460776, 29472887, 29483249, 29490429, 29495962, 29499331, 29513014, 29515358, 29524628, 29540819, 29551730, 29559385, 29562705, 29564924, 29588252, 29606582, 29609078, 29618798, 29621978, 29627580, 29630712, 29649360, 29650794, 29656576, 29659621, 29666246, 29679384, 29686043, 29703933, 29713825, 29725819, 29742495, 29748379, 29751510, 29773329, 29777762, 29779896, 29790082, 29842900, 29859100, 29861044, 29868980, 29875132, 29887144, 29895397, 29906423, 29912613, 29928993, 29940787, 29943955, 29951816, 29982983, 29991716, 30010155, 30014505, 30028737, 30031021, 30042688, 30045958, 30072868, 30084972, 30088417, 30093141, 30102919, 30123078, 30126943, 30127392, 30131665, 30134145, 30134252, 30136928, 30142602, 30146930, 30150420, 30150770, 30154836, 30193933, 30194029, 30195799, 30236613, 30238989, 30255176, 30270202, 30273700, 30284034, 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31230748, 31250273, 31262807, 31275228, 31290185, 31300881, 31306211, 31321663, 31323035, 31324499, 31330533, 31332433, 31341015, 31342410, 31344397, 31344643, 31348988, 31352711, 31364764, 31382568, 31383794, 31400485, 31406145, 31412164, 31422280, 31439573, 31456060, 31469297, 31474832, 31521619, 31521959, 31561715, 31597644, 31623154, 31627428, 31669277, 31680172, 31680811, 31686367, 31702142, 31702460, 31702461, 31702462, 31744522, 31755041, 31771229, 31781168, 31787569, 31796595, 31819203, 31820696, 31820923, 31830646, 31832682, 7475893, 7496169, 7643359, 7673954, 7755363, 7805862, 7820674, 7836951, 7910402, 7913294, 7920663, 8025243, 8245985, 8263541, 8302496, 8351519, 8572658, 8610185, 8643599, 8650157, 8651652, 8651656, 8682505, 8731383, 8786408, 8875253, 8906612, 8907321, 8909456, 8921896, 8922067, 8938700, 8940623, 8988176, 9006413, 9007410, 9052802, 9065559, 9111507, 9124814, 9131652, 9194892, 9207139, 9226998, 9240414, 9382875, 9392581, 9409355, 9419048, 9419057, 9455977, 9506558, 9527889, 9547233, 9596352, 9683997, 9689131, 9721759, 9743498, 9786240, 9804382, 9804764, 9817920, 9818932, 9855309, 9861044, 9930742		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	10102580, 10467139, 11461956, 11518706, 11561030, 12067230, 12122184, 12145308, 12356748, 12423246, 12482932, 12773627, 12930974, 14734542, 14981234, 15326189, 15456787, 15475574, 15691826, 15987780, 16107368, 16407238, 16495328, 16798882, 16880213, 17394531, 17513298, 17592131, 17997855, 18301754, 18515363, 18666828, 18840448, 19091752, 19176896, 19196430, 19259395, 19299510, 19478559, 19483195, 19635794, 19651777, 19751676, 19800308, 19828437, 20184893, 20189984, 20399791, 20404910, 20460594, 20517935, 20577002, 20801718, 21152319, 21228060, 21257910, 21364087, 21396374, 21515558, 21554318, 21700707, 21857683, 21940617, 22210350, 22272128, 22558346, 22563406, 22651090, 22993064, 23078282, 23100398, 23228179, 23264618, 23431152, 23431167, 23612299, 23612577, 23755211, 23802566, 23881933, 24048249, 24076220, 24114411, 24143259, 24312616, 24439481, 24450587, 24567322, 24591609, 24692554, 24703839, 24704492, 24704493, 24936435, 24971881, 25052939, 25096579, 25121776, 25174650, 25237191, 25296320, 25429517, 25681989, 25762331, 25798606, 25807871, 25917047, 26362407, 26413785, 26511321, 26619801, 26694608, 26919046, 27074676, 27261500, 27282955, 27496206, 27604643, 27667694, 27838743, 28222900, 28366453, 28401346, 28430856, 28480639, 28539470, 28558143, 28585802, 28847504, 28884318, 29053667, 29149916, 29234142, 29419416, 29431095, 29630712, 29679384, 29703933, 29779896, 30014505, 30045958, 30236613, 30720798, 30863976, 30940688, 30992335, 31152038, 31162603, 31164693, 31301488, 31323035, 31332433, 31341015, 31744522, 31747286, 31768050, 31796595, 31817166, 31925813, 32014991, 32121118, 32123048, 32191862, 32284329, 32616036, 32640130, 32640133, 32666680, 32687490, 32762033, 32779864, 32784718, 32868812, 32917270, 32924445, 32948071, 33036560, 33244158, 33335227, 33630959, 33635895, 33670299, 33770234, 33809456, 33825682, 33970128, 34076319, 34107252, 34348022, 34380534, 34500068, 34518333, 34544842, 34616013, 34669638, 34680939, 34767750, 34773059, 34946792, 34996976, 35016464, 35053410, 35065969, 35076740, 35253968, 35328090, 35505609, 35512359, 35525134, 35576218, 35594156, 35715417, 35817830, 35985819, 36077049, 36083789, 36224351, 36265587, 36293534, 36309735, 36362259, 36364128, 36371497, 36385230, 36416085, 36446187, 36522764, 36549973, 36592929, 36747013, 36917918, 36980274, 37020097, 37119480, 37184603, 37208601, 37220877, 37394881, 37450566, 37555646, 37608584, 37626868, 37691292, 37735015, 38123999, 39258714, 39268612, 39351695, 39462586, 39490682, 39509425, 39662462, 40054065, 40179811, 40326915, 40354780, 40424855, 40429802, 7608718, 7635196, 7643359, 7673954, 7805862, 9231727, 9295278, 9453566, 9490044, 9541385, 9876871	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	11854284, 11854285, 11951178, 11996514, 12039658, 12138710, 12393885, 12441104, 12458194, 12475980, 12480087, 12502789, 12644909, 12659845, 12783432, 12972170, 13129803, 14506936, 14734542, 14978393, 15109247, 15350647, 15465081, 15634772, 15789135, 15829169, 16084730, 16407238, 16423367, 16567804, 16730180, 16920710, 16945901, 16952453, 17257622, 17368952, 17453632, 17463094, 17483589, 17504823, 17513298, 17549529, 17592131, 17636119, 17652584, 17725983, 18006498, 18033592, 18233996, 18282652, 18307039, 18316367, 18485920, 18574763, 18608106, 18666828, 18808763, 18826962, 19060114, 19191304		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GENOMICS_ENGLAND_DG	23687121, 25439728		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	23941283		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	10077670, 10090673, 10102580, 10321246, 10385054, 10400992, 10425565, 10624810, 10625639, 10716886, 10735277, 10899935, 11011020, 11078211, 11113563, 11181815, 11298796, 11304044, 11304045, 11474839, 11585247, 11590119, 11595514, 11701756, 11706389, 11772995, 11796754, 11854285, 11860498, 11889469, 11922659, 11930144, 11951178, 11997070, 12039658, 12060716, 12077002, 12124437, 12140271, 12151755, 12153481, 12213295, 12358759, 12475980, 12502789, 12531528, 12644909, 12659845, 12707786, 12729761, 12830400, 12840784, 12972170, 14517684, 14648077, 14711010, 15030390, 15034941, 15050430, 15109247, 15235802, 15258228, 15310460, 15358145, 15738401, 15829169, 15840828, 15857664, 15872021, 15983830, 16046140, 16084730, 16372325, 16441516, 16488975, 16681429, 17107883, 17255946, 17636481, 17925878, 17979159, 18006498, 18191946, 18268245, 18469020, 18608106, 18608108, 19088126, 19104447, 19233858, 19252762, 19325915, 19411082, 19450904, 19618195, 19922143, 19965850, 20067275, 20079423, 20485746, 20517935, 20562451, 20816908, 20888599, 20953194, 21047878, 21084099, 21483737, 21655264, 21930207, 22088212, 22185396, 22219285, 22499346, 22575358, 22595939, 22773853, 23006449, 23286750, 23414135, 23760509, 24157939, 24838187, 24945277, 25306968, 25763819, 25965274, 26630559, 27163198, 27378311, 2739919, 27444855, 27773815, 28123103, 28472188, 28621357, 28709720, 28899654, 29033165, 29627580, 29982983, 30518612, 7501156, 7507613, 7595631, 7708768, 7719145, 7722523, 7796176, 7805862, 7951249, 7980516, 7985500, 8058797, 8179602, 8263541, 8351519, 8572658, 8650157, 8815157, 8830861, 8836967, 8858006, 8891072, 8899665, 8960743, 8967745, 9000523, 9008494, 9044305, 9083002, 9088386, 9111507, 9210248, 9307254, 9315720, 9348345, 9349552, 9376520, 9382875, 9425258, 9444365, 9455983, 9527903, 9648876, 9696308, 9721759, 9728338, 9748044, 9749537, 9798929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	10102580, 10461909, 11181815, 11413228, 11461956, 11518706, 11701756, 11706389, 11854285, 12393885, 12437573, 12649272, 12773627, 12830400, 12858291, 14734542, 15258228, 15456787, 15475574, 15507437, 15691826, 15738401, 15840828, 16105836, 16107368, 16291742, 16407238, 16488975, 16729899, 17255946, 17592131, 17636119, 17997855, 18515363, 19259395, 19299510, 19325915, 19335999, 19369197, 19450904, 19459941, 19478559, 19483195, 19651777, 19751676, 20075587, 20097285, 20577002, 20598774, 20953194, 21104697, 21285887, 21354101, 21360076, 21364087, 21554318, 21930926, 22431618, 22595939, 23781106, 23784844, 23853506, 24032979, 24155874, 24936435, 24971881, 25306968, 26319711, 27074676, 27075172, 27261500, 27378311, 28480639, 28709720, 29630712, 30349065, 31332433, 31579943, 31695223, 31796595, 32121118, 32640133, 34138531, 34669638, 35016464, 35053410, 35512359, 36224351, 37119480, 37964005, 39351695, 40097075, 7595631, 7608718, 7635196, 7643359, 7673954, 7719145, 7805862, 7887412, 7937915, 8058797, 9083002, 9315720, 9349552, 9541385, 9600970, 9618471, 9749537, 9876871	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	UNIPROT_DG	10400992, 10430435, 10732812, 11369193, 11535232, 12145308, 12402272, 12754496, 12963370, 14506936, 15056757, 18301754, 18378676, 18552350, 19741096, 21220647, 21247266, 27604643, 7496169, 7501156, 7647793, 7655468, 7655469, 7655471, 7700376, 7795609, 7836951, 7870076, 7881433, 7887412, 7951252, 7980516, 7997024, 8069312, 8179602, 8351519, 8446170, 8528216, 8682505, 8907321, 8938700, 8990014, 9101297, 9131652, 9455977, 9541385		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	10764647, 11181815, 11346368, 11675877, 11796754, 11951178, 12127151, 15096637, 15264227, 15522870, 16105836, 19227972, 20485746, 21140194, 23612299, 24163136, 24256636, 26694608, 8967745		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CLINVAR_DG	10889018, 11676987, 12482932, 1259395, 14506936, 15258228, 15987780, 16291929, 16793335, 17543992, 18951903, 19176896, 19259395, 19483195, 19618436, 19635794, 19800308, 20184893, 20309572, 20399791, 20404329, 20404910, 20577002, 21257910, 21549128, 21700728, 22094223, 22292843, 22475618, 22647583, 23062701, 23100398, 23280792, 23286750, 23726301, 24769475, 25025039, 25109764, 26069299, 26362407, 27978769, 28089144, 28105640, 28222900, 28291249, 7496169, 7655471, 7836951, 7891072, 7951249, 7997024, 8179602, 8298637, 8351519, 8446170, 9029070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	GENOMICS_ENGLAND_DG	23687121, 25439728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	Amyotrophic lateral sclerosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)	Amyotrophic lateral sclerosis	BEFREE	20339559		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 20	Amyotrophic Lateral Sclerosis	BEFREE	8940623		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)	Amyotrophic lateral sclerosis	BEFREE	25409455		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	10025816, 10930589, 11220737, 11590119, 11723166, 12586733, 12626432, 16495328, 17097207, 17319283, 17496168, 18233996, 19635794, 19929749, 20132483, 20177826, 20348957, 20515040, 21867702, 23583883, 24885036, 25164820, 30503815, 7887412, 9065559		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	10072299, 10077670, 10090670, 10090673, 10102580, 10321246, 10327155, 10385054, 10400992, 10425565, 10448977, 10461909, 10567054, 10593307, 10624810, 10677867, 10716886, 10726972, 10727699, 10735277, 10762155, 10764647, 10809943, 10899935, 10930589, 10964497, 10965797, 11011020, 11045671, 11050163, 11113563, 11114261, 11127534, 11181815, 11298796, 11304044, 11304045, 11331366, 11346368, 11413228, 11461956, 11469788, 11474839, 11585247, 11590119, 11595514, 11602336, 11701756, 11717358, 11730713, 11772995, 11796754, 11854285, 11860498, 11889469, 11922659, 11930144, 11951178, 11997070, 12039658, 12060716, 12077002, 12124437, 12140271, 12151755, 12153481, 12210393, 12213295, 12358770, 12384220, 12388585, 12393885, 12402272, 12437573, 12437574, 12458194, 12475980, 12480087, 12502789, 12531528, 12659845, 12729761, 12792143, 12915243, 12972170, 14517684, 14623191, 14648077, 14711010, 14715277, 14759637, 15030390, 15034941, 15050437, 15109247, 15171736, 15198682, 15208263, 15233914, 15235802, 15258228, 15289674, 15310460, 15358145, 15456787, 15465081, 15509539, 15538967, 15634228, 15634772, 15670639, 15691826, 15738401, 15758154, 15768028, 15802861, 15812313, 15840828, 15857664, 15872021, 15958382, 15965076, 16045483, 16046140, 16046141, 16079151, 16105836, 16150118, 16174551, 16221675, 16441516, 16442737, 16461917, 16476815, 16478527, 16488975, 16563356, 16598672, 16814528, 16847061, 16928982, 16945901, 17034351, 17107883, 17255946, 17299743, 17303436, 17316906, 17319283, 17333220, 17403682, 17448900, 17453632, 17603925, 17624778, 17636481, 17683122, 17913710, 17925878, 17997855, 18006498, 18022844, 18059133, 18074357, 18160256, 18191946, 18219386, 18316367, 18337461, 18378676, 18440237, 18519638, 18539273, 18703498, 18955116, 19022905, 19060114, 19077113, 19088126, 19252762, 19259395, 19259649, 19266020, 19267424, 19299510, 19325915, 19332692, 19399611, 19438725, 19442735, 19483195, 19495690, 19496940, 19576169, 19596401, 19618195, 19635794, 19651777, 19655787, 19656261, 19660548, 19661182, 19670443, 19762508, 19805550, 19922143, 19965850, 20067275, 20079423, 20202083, 20232802, 20367259, 20485746, 20517935, 20562451, 20598774, 20623531, 20816908, 20888599, 20932227, 20933032, 20953194, 21068388, 21084099, 21098299, 21104697, 21185345, 21364087, 21483737, 21496827, 21554318, 21574856, 21624464, 21655264, 21877919, 21930207, 22049426, 22081209, 22088212, 22089637, 22094223, 22185396, 22219285, 22332887, 22366794, 22431618, 22595939, 22647583, 22670881, 22773853, 23043510, 23118898, 23352207, 23414135, 23415570, 23496883, 23541756, 23580651, 23597337, 23760509, 23781106, 23784844, 23886956, 23954173, 24032595, 24092880, 24094577, 24141050, 24154542, 24163136, 24234043, 24253732, 24341866, 24369116, 24577199, 24611504, 24707896, 24838187, 24971881, 25306968, 25381879, 25762155, 25762331, 25965274, 26067594, 26142125, 26319711, 26630559, 26878886, 26919172, 27090969, 27121871, 27163198, 27241719, 27261461, 27261500, 27322773, 27378311, 2739919, 27444855, 27540759, 27567739, 27721436, 27773815, 28472188, 28480639, 28527045, 28621357, 28663100, 28768772, 28832631, 28861673, 28877271, 29564924, 29609497, 29627580, 29792928, 29861271, 29869502, 29881358, 30038021, 30110532, 30195799, 30260512, 30289953, 30349065, 30399166, 30462490, 30513241, 30518612, 30602569, 31028834, 31040321, 31134679, 31332433, 31336405, 31474832, 31734464, 31781168, 7496169, 7501156, 7507613, 7554432, 7582045, 7595631, 7605627, 7608718, 7635196, 7643359, 7673954, 7708768, 7722523, 7796176, 7805862, 7820674, 7836951, 7846037, 7852409, 7887412, 7910402, 7937915, 7951249, 7980516, 7985500, 8058797, 8179602, 8351519, 8446170, 8572658, 8610185, 8618684, 8643599, 8650157, 8651652, 8682505, 8734301, 8786408, 8815157, 8830861, 8836967, 8858006, 8891072, 8899665, 8907321, 8922067, 8938700, 8960743, 8967745, 9000523, 9008494, 9029070, 9044305, 9052802, 9083002, 9088386, 9124814, 9194892, 9207139, 9210248, 9240414, 9273821, 9307254, 9315720, 9348345, 9349552, 9376520, 9382875, 9409355, 9419057, 9425258, 9444365, 9455977, 9455983, 9527903, 9600970, 9618471, 9629839, 9648876, 9696308, 9721759, 9728338, 9743498, 9748044, 9749537, 9798929, 9861044, 9876871		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	10764647, 11181815, 11346368, 11675877, 11796754, 11951178, 12127151, 15096637, 15264227, 15522870, 16105836, 19227972, 20485746, 21140194, 23612299, 24163136, 24256636, 26694608, 8967745		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	10025816, 10930589, 11220737, 11590119, 11723166, 12586733, 12626432, 16495328, 17097207, 17319283, 17496168, 18233996, 19635794, 19929749, 20132483, 20177826, 20348957, 20515040, 21867702, 23583883, 24885036, 25164820, 30503815, 7887412, 9065559		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	BEFREE	12899197, 16092099, 24918341		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	10764647, 11181815, 11346368, 11675877, 11796754, 11951178, 12127151, 15096637, 15264227, 15522870, 16105836, 19227972, 20485746, 21140194, 23612299, 24163136, 24256636, 26694608, 8967745		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	10976937, 12707786, 12783432, 15050437, 15829169, 15920660, 16423367, 16469270, 16681429, 16952453, 17071091, 17257622, 17333220, 17469116, 18608091, 19332388, 19411082, 19670443, 19726402, 19965850, 20176600, 20184515, 20192886, 20399857, 20638444, 20884065, 21062492, 21483737, 21545237, 21621297, 24134191, 24138988, 24394188, 24529757, 25384182, 25411487, 28808785, 29881994, 29938835, 30038021, 30236613, 31121901, 31456060, 31744522, 31796595, 7870076, 8263541, 8909456, 8988176, 9124814, 9392581, 9506558, 9683997		★☆☆☆☆ Found in Text Mining only
Amyotrophy, monomelic	Monomelic Amyotrophy	BEFREE	9006413		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	19515016, 20079426, 29915223		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	19951064, 30010491, 32170816, 40657454	Inhibit	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	145179	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	28578351	Stimulate	★☆☆☆☆ Found in Text Mining only
Anterior Horn Cell Disease	Anterior Horn Cell Disease	CTD_human_DG	16702190		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	15464862, 19166269		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	15464862, 19166269		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	36097781, 37737183	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	32273946, 40436996	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	28545777		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	CTD_human_DG	25101153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Insufficiency	Aortic valve disease	Pubtator	28185644	Associate	★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	30771140		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15528470, 29793330, 9327771		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29852739		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	26924871	Associate	★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	CTD_human_DG	17963755		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthenozoospermia	Asthenozoospermia	Pubtator	18287793	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	21575935	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	25109708, 31468427		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	14760150, 21829032, 22525041, 29579542, 30657578, 31520993		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	CTD_human_DG	22867017		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	28913566		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	9876871	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	2526018		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	30778698		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15528470, 29793330, 9327771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	LHGDN	15576639, 16191429		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	CTD_human_DG	20720404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	37324184, 40404675	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	21954878, 28207162		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	30367819		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	30367819		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	20075587	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28097908, 28531237		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29215027, 30367819		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19166269		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21062492		★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	BEFREE	20079426, 31590572		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29394243, 29485914, 29538305, 30700637, 30858867, 31063183, 31212291		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	15884106	Inhibit	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	20056743		★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	BEFREE	30506397		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	17296902		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	29211357		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	28185644		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	28185644	Associate	★☆☆☆☆ Found in Text Mining only
Bilateral vocal cord paralysis	Vocal Cord Paralysis	BEFREE	21413851		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	22001364, 28750571, 29736827		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17340208, 28179340		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	29864937		★☆☆☆☆ Found in Text Mining only
Bonnevie-Ullrich Syndrome	Turner syndrome	CTD_human_DG	25101153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Infarction	Brain Infarction	BEFREE	8298091		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	CTD_human_DG	11756504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Ischemia	Cerebral Ischemia	LHGDN	12738898, 17272778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Ischemia	Cerebral Ischemia	BEFREE	14526222, 15350647		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Stem Ischemia, Transient	Cerebral Ischemia	CTD_human_DG	12629175, 15829915, 16538228, 16868554		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	1347193, 1531166, 16423367, 24448804, 26227626, 28960310, 30315444, 31222103		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18258688, 24448804, 29333087, 32767328, 32920119, 35906899, 37070912	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	22958044		★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	BEFREE	16936397		★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	11719252, 14636160, 16225946, 20644736, 24503148, 30644418, 30787165, 9724012		★☆☆☆☆ Found in Text Mining only
Bulbospinal Neuronopathy	Bulbospinal Neuronopathy	BEFREE	24503148		★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	23036509		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	23475579	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21940907	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	27057281, 29333087	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15520498, 20953194, 24344300, 25306968, 27378311, 28291249, 37924725	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27227932	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17340208, 28179340		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19887610, 21930909, 28558143, 29173487, 29601905		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20682985, 28884887		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	31115025, 31799682	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29607874, 30372866		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25149881, 34369277, 36012132	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27755600, 30487467, 31302425, 31485173, 31670860		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	40404675	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid Artery Thrombosis	BEFREE	26069236		★☆☆☆☆ Found in Text Mining only
Carotid Circulation Transient Ischemic Attack	Transient Ischemic Attack	CTD_human_DG	12629175, 15829915, 16538228, 16868554		★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	BEFREE	31144300		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	21921984, 23289810, 27703255, 31178586		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	21921984, 23781296	Inhibit	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	23970468	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	28168522		★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	31332433	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	15306124, 1763030, 7859076, 8298091, 8594209		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	33646985, 36802116	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	38245621	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	CTD_human_DG	10698074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	19860665, 28552237, 28961512, 31158476, 31670860		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	28248861		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	15495240, 28759048		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	30317490		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34320944	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	29848712		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	29848712		★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	31816375		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	24002644	Associate	★☆☆☆☆ Found in Text Mining only
Chromosome 17q21.31 Deletion Syndrome	Chromosome 17q21.31 deletion syndrome	Pubtator	34286667	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	20931343, 30241461, 30617956		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	30570876		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	16467073, 17567676, 29872287, 30316201, 30590262, 30668180		★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	CTD_human_DG	11907800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classical phenylketonuria	Phenylketonuria	BEFREE	11772995		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	29279867		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19101040, 28448084, 34380534, 35985819, 39258714	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28220290		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	34380534	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	11696587, 12633752, 21642017		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30816228		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19902052, 21622897, 24002644, 24446182, 26408701, 31441671		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21622897, 24002644, 26318585, 27902462, 37373014	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	25295643		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29901643		★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	BEFREE	21078175		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	16616851, 16902995, 30602569		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	26232087		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	20304815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	30860934		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy Avellino type	Corneal dystrophy	Pubtator	19497990	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15364863		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	15364863, 31156338		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	23055813	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	27067415	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	15364863, 19593803, 27067415, 30031113, 31034953		★☆☆☆☆ Found in Text Mining only
Crescendo Transient Ischemic Attacks	Transient Ischemic Attack	CTD_human_DG	12629175, 15829915, 16538228, 16868554		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	29312611		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	33882797	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	34779380	Inhibit	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	30130360, 31679267		★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	26586020, 29140156		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	21931865	Associate	★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	18334481		★☆☆☆☆ Found in Text Mining only
Degenerative brain disorder	Degenerative Brain Disorder	BEFREE	30480029		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20511611, 28049462, 30222787		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	19495873, 28076984, 28319880, 31300881		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	34380534, 9876871	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	11396674, 16495328, 17469116, 19070491, 19929726, 22166431, 23250913, 23338750, 25916564, 28531237, 29403345, 30931630, 30946927, 31550516, 31702465, 31837425, 7431026		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	24448401	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	31706953		★☆☆☆☆ Found in Text Mining only
Depression, Neurotic	Mental Depression	CTD_human_DG	19605942		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	10594078, 22244747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	CTD_human_DG	19605942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	29674987, 31052597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Syndrome	Mental Depression	CTD_human_DG	19605942		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	22860700		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11522679, 27751366, 28105508, 28961512, 29107328, 29658324, 30561055, 31347256		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	23046386, 27736899, 34118857	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	BEFREE	25056824		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11522679, 26232087, 27751366, 28105508, 28961512, 29107328, 29658324, 30524286, 30561055, 31011149, 31347256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	LHGDN	12787913, 18423055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	CTD_human_DG	23786522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	25790544, 32215181, 33761612, 37754589	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	20191117, 20360867, 32221364, 33761612	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22718504, 23941231, 27667694, 30909159, 32049633, 33761612	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33426802	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	17667843		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20191117, 21963083, 22608880, 24819633, 29924645, 31398260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11350569, 22450556, 22608880, 22970972, 25283363, 26674569, 28616937, 29849828, 30098371, 30460863, 30909159, 31042755, 31152300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	15531508		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Angiopathies	Diabetic cardiomyopathy	LHGDN	17667843		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	37758743	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	17914031, 20191117	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17914031, 20191117, 21963083, 22608880, 24819633, 28595780		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	17015165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	CTD_human_DG	19074809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	35081536, 37895018	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	22005552		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	29589594		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	BEFREE	23954173		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	31695223	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	10438727, 11181815, 12943237, 1826326, 2143053, 22009041, 23180588, 25852816, 26166206, 28019128, 30031727, 6210775, 6445984, 6577438	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	BEFREE	10553065, 10624550, 10666681, 11181815, 11217146, 11858695, 12943237, 145179, 15068249, 15138197, 15464862, 15525277, 15670619, 15961078, 15982533, 16716898, 16891409, 17168651, 1717112, 17559337, 17602442, 17624778, 1826326, 19593803, 2139757, 2526018, 2527742, 2529019, 25524953, 25852816, 28697486, 2893664, 2939098, 2951317, 2960971, 2963715, 2966094, 3334851, 6154946, 6211674, 6445984, 7228038, 8432528, 8566945, 8600312, 9690992, 9749716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	CTD_human_DG	11181815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	LHGDN	11771762, 17602442, 17624778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down syndrome	Pubtator	145179	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome, Partial Trisomy 21	Down Syndrome	CTD_human_DG	11181815		★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	22072713		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	29625494		★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	7611297	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	20389102		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	9876871	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	27751366, 28870551		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	32559230	Associate	★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	29656378		★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	CTD_human_DG	19605942		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25947891, 29464366		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	10636120, 15111676		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15150448, 28913566		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	20226689	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	24220630	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	19109932		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	24220630, 31796120		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28884887		★☆☆☆☆ Found in Text Mining only
Erysipelas	Erysipelas	BEFREE	28512644		★☆☆☆☆ Found in Text Mining only
Esophageal Diseases	Esophageal disease	Pubtator	15884106	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	15884106	Inhibit	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	31630358		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	23114103		★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	16879248	Stimulate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	11717357, 11772995, 7599248		★☆☆☆☆ Found in Text Mining only
Familial Motor Neuron Disease	Motor Neuron Disease	CTD_human_DG	16702190		★☆☆☆☆ Found in Text Mining only
Familial Motor Neuron Disease	Motor Neuron Disease	BEFREE	22475618		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	22973467	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	CTD_human_DG	27349771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	27855316, 29201162, 30050648		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	28264426, 30537674, 30579258		★☆☆☆☆ Found in Text Mining only
Fatty Liver, Alcoholic	Alcoholic Fatty Liver	CTD_human_DG	19951287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fragile X Syndrome	Fragile X Syndrome	BEFREE	19166269, 28913566		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	16240349, 16317253, 16421333, 17202431, 19104447, 19252762, 19567404, 19618195, 21360076, 21607722, 22017980, 22101323, 22181065, 22459598, 22499346, 22550220, 22670877, 22875087, 23216213, 23254636, 23818065, 24042580, 24356984, 25156163, 25173361, 25179229, 26581300, 27516603, 27671483, 28009271, 28069311, 28159885, 28165465, 28270533, 28449882, 28745069, 28790177, 28827549, 29091718, 29191947, 29349657, 29358076, 29423814, 29630712, 29773329, 30146930, 30344044, 30454072, 30770429, 31335339, 31412164, 31649034, 31702461, 31780563		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	22692064, 30992335, 35985819	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	BEFREE	24684794, 28585542, 31521959		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	17202431, 19496940, 19618195, 22154785, 22181065, 23312802, 23746459, 24011980, 24899140, 24915640, 25917047, 26220395, 27892698, 28980860, 30506397, 31666087		★☆☆☆☆ Found in Text Mining only
Gait Disorders, Neurologic	Gait disturbance	CTD_human_DG	21867702		★☆☆☆☆ Found in Text Mining only
Galactosemias	Galactosemia	Pubtator	23828587	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	23009611	Associate	★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	20872977		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	15884106	Associate	★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	29249183		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	BEFREE	12564775		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29394115		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	21851955, 27924632		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10421066, 15208263, 26454429, 28676971, 28913566, 29862858		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28097126	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15208263, 26454429, 28676971		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10421066, 19409983, 19423540		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	11861405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	18790046, 19423540, 36809279	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	BEFREE	18615337		★☆☆☆☆ Found in Text Mining only
Gluten intolerance	Gluten intolerance	BEFREE	28168522		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	20206286, 29249183		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 45,X	Gonadal Dysgenesis	CTD_human_DG	25101153		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	23254636, 24011980		★☆☆☆☆ Found in Text Mining only
Hartnup Disease	Hartnup Disease	BEFREE	1274524		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	33916948	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	31731058	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	20304815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	20304815		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	32767328	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	32767328	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	16186539		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	16186539		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	30009206, 30778698, 31684904		★☆☆☆☆ Found in Text Mining only
Hepatic Adenomas Familial	Hepatic adenoma	Pubtator	17548825, 19411082, 21944779, 24344300, 28291249	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	29857139		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	39809184	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	29428576		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	36316849	Associate	★☆☆☆☆ Found in Text Mining only
Hexosaminidase alpha-Subunit Deficiency (Variant B)	Tay-Sachs disease	BEFREE	11460829		★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	1274524, 7201584		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	25056824, 29726706		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	15538967, 1866020, 19530012, 19929726, 20058166, 26092128, 26615955, 28412918, 29425965, 29542412		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	18307039		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	31206177		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	LHGDN	15473258		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	15473258	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	20206286, 28372462		★☆☆☆☆ Found in Text Mining only
Hyperekplexia	Hyperekplexia	Pubtator	31332433	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	17272778, 29253812, 29477910		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	28414812, 31629034		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	20580687, 30500505, 31152300, 31730947		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25149881, 33973418	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	28514291	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15192025, 20150548, 22713485, 23114721, 29882756, 31152300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	25101153, 9024144		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	CTD_human_DG	19914224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocholesterolemia	Hypocholesterolemia	BEFREE	31119639		★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	BEFREE	25247420		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	25056824		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	30565690		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23812845, 33725925	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24316428, 30137220, 33174051, 40222298	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	8546216	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	28781627		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	20110409, 27343087, 28272301		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	20110409		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	8600312		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24911596, 30692571, 8114793		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	14694044, 15789135, 16106213, 17909153, 18081837, 19252762, 22790929, 24769471, 27534257, 28220290, 28591385, 28802959, 31088292, 31469297		★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	23250913		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	22860700		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	26198800, 36592993	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36592993	Stimulate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	24658925, 36592993	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	12633752, 29312611, 30316201		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33028732	Inhibit	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16891409, 7611297		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	7611297	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	30590313		★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	BEFREE	22677600, 8300230		★☆☆☆☆ Found in Text Mining only
Intravascular hemolysis	Intravascular Hemolysis	CTD_human_DG	25247420		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	CTD_human_DG	17057260		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	34022567	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	29274540		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	22621959		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	16877401, 19011015, 19654524, 20023586, 22171159, 24099280, 24547927, 30916512		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	19011015, 21976959, 22171159	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	BEFREE	22005552		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	CTD_human_DG	24360074		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	28808392		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	17914031, 20931343, 21963083, 22608880, 29309869		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	17914031	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	20360867	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	11729238		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	28885000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	16155359		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	29705950		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	26682008	Associate	★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lateral Sclerosis	Lateral Sclerosis	BEFREE	15911810, 18627324, 29868980, 30296856, 31325016		★☆☆☆☆ Found in Text Mining only
Lateral Sclerosis	Lateral Sclerosis	CTD_human_DG	16702190		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	20304815		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	23812845	Inhibit	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12967646, 21172440		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	17823119		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	2737285	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	26241492	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36708053	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	11071482		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	21857683		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	23114103	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10594930, 25468678, 28094854		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28403123		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	30050648		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10594930		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	11181815, 12753090, 15312178, 16020530, 17255946, 17548825, 19325915, 20097285, 20189984, 20953194, 21104697, 21364087, 21607722, 21930926, 22027401, 22431618, 23431152, 23781106, 23784844, 24155874, 24692554, 25121776, 25306968, 25316790, 26293199, 26362407, 26511321, 27378311, 27496206, 28291249, 28480639, 28558143, 28680046, 30236613, 30349065, 33271327, 34138531, 34946792, 34985276, 35076740, 35594156, 36084484, 36223668, 36371497, 36376198, 36472686, 36592929, 36622328, 37043475, 37964005, 40219902	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17409931, 21930909, 35898682	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19887610, 26134408, 28558143, 30991224	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	23784082		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	18415766		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28241758, 31475863, 31590572, 8608687		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	25082878	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	16376995		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	19661182, 26615955		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	23459973, 27935234	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	24967945, 29681025, 29736827		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	28391978		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	10421066		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	11861405		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	1347193, 1531166, 16423367, 24448804, 26227626, 28960310, 30315444, 31222103		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19887610, 21930909, 28558143, 29173487, 29601905		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	16179351		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20682985		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17646272, 20477822, 24038157, 26599430, 30322333		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20872977, 23030347		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17340208, 28179340		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15044326, 16550599, 18625223, 22946823, 23313479, 24002644, 24140062, 26318585, 26962057, 27543313, 27991692, 29374733, 29727620, 29848712, 30092221, 30732891, 30911355, 31028834, 31222103, 31476248		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30816228		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	19306035, 29353781		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	29974756	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16423367		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29986606, 31222103		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	CTD_human_DG	25101153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan Syndrome, Type I	Marfan Syndrome	CTD_human_DG	25101153		★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	CTD_human_DG	19605942		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10644010		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	CTD_human_DG	11907800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningomyelocele	Meningomyelocele	BEFREE	22972774, 23792044		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	CTD_human_DG	22972774		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	10594078, 22244747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	29674987, 31052597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	16891409, 7611297		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30561055		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	25295643		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	36430258	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	25295643		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	19429011, 25857617, 25916564, 31518073		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	23266290, 26821085		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21354101, 28441753, 32381627, 32917270, 9315720	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26761025	Inhibit	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	18334481		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	31100644		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	29674987		★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	11861405		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	29681025		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	BEFREE	19252762		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	10090670, 10321246, 10965797, 11071482, 11676989, 11717358, 11723276, 11796754, 12111360, 12127151, 12864925, 14625013, 15009685, 15197603, 15663483, 15755678, 15958382, 16382787, 16410746, 16713195, 16740261, 16753145, 16973244, 17099894, 17403682, 17435755, 17469116, 17486090, 17543992, 17784831, 18233996, 18305242, 18344992, 18410928, 18574763, 18683239, 18923022, 19259395, 19379791, 19399611, 19576169, 19651777, 19969067, 20005223, 20079427, 20202083, 20498436, 20530642, 20553309, 20807312, 21185345, 21385376, 21760539, 21896316, 21969586, 22027401, 22049426, 22051914, 22249462, 22740507, 23281774, 23388633, 23760509, 24239688, 24591593, 25254338, 25763819, 26002422, 26972116, 28732762, 28855684, 29198162, 29307609, 29463850, 29507931, 29725819, 29881994, 30110532, 30320556, 30518612, 30594811, 30602569, 30659087, 30831216, 31470261, 7582045, 8209258, 8618684, 8891072, 8988176, 9861044		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	10467139, 12122184, 17997855, 19176896, 20075587, 22272128, 24032979, 25316790, 29679384, 31332433, 32139772, 33825682, 34680939, 40424855	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Motor Neuron Disease	Motor Neuron Disease	BEFREE	10636120, 10964615, 11011020, 11090858, 11284995, 11460829, 11818550, 11889469, 11912107, 11972798, 12165567, 12384220, 12595144, 12966034, 15009685, 15626820, 15699374, 15738401, 15755678, 15872021, 16040355, 16046140, 16049935, 16054517, 16675207, 16702190, 16765570, 16973244, 17146286, 17549011, 18282652, 18332255, 18523548, 19077113, 19318250, 19326469, 19823194, 20067275, 20339559, 20573565, 20616033, 21402124, 21413851, 21453731, 21813273, 22219285, 22332887, 22523565, 23035801, 23486940, 24032979, 24092880, 24163136, 24296360, 24630593, 24684794, 24838187, 25316790, 25384799, 25572957, 25761970, 25762155, 26203661, 26224640, 26853136, 26972116, 27597528, 27892702, 28040732, 28103314, 28389720, 29125194, 30127392, 30296856, 30546295, 30548150, 30665069, 31006691, 31009755, 31058309, 31332433, 31550516, 31634749, 7605627, 7635196, 8610185, 8734301, 8921896, 9111507, 9207139, 9382875, 9462467, 9633809, 9689131, 9989458		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Motor Neuron Disease	Motor Neuron Disease	LHGDN	15263088, 15379995, 15522970, 16046140, 17038899, 17715066, 18273717, 18337461, 18515363		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Motor Neuron Disease	Motor Neuron Disease	CTD_human_DG	16702190		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Motor Neuron Disease	Motor Neuron Disease	CLINVAR_DG	28089114		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Motor Neuron Disease, Lower	Motor Neuron Disease	CTD_human_DG	16702190		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Lower	Motor Neuron Disease	BEFREE	18273717, 19176896, 22670881		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Secondary	Motor Neuron Disease	CTD_human_DG	16702190		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Upper	Motor Neuron Disease	CTD_human_DG	16702190		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	21844169, 30778698		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	35985819	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25485927		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25485927, 38554386	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18930811		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23761047, 28412918, 30063300, 31048504, 31100644, 31702463		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30063300	Inhibit	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	23155438	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	15704143		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	22796148	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Oculopharyngeal	Oculopharyngeal Muscular Dystrophy	BEFREE	22860700		★☆☆☆☆ Found in Text Mining only
Myelocele	Myelocele	CTD_human_DG	22972774		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	20304815		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	18971355		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	21600015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	30154948, 31080351, 31280453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	31731058	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocarditis	Myocarditis	BEFREE	30154948		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	16435343, 19922143, 29618798		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	16435343		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	1611723		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	25149881, 32767328	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	29582644	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29891006		★☆☆☆☆ Found in Text Mining only
NAVAJO NEUROHEPATOPATHY	Navajo Neurohepatopathy	BEFREE	22005552		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	11413228, 26241492	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	16550599, 18094428, 18155673, 18258688, 19493551, 24002644, 26227626, 26318585, 28214706, 29596499, 29727620, 29855979, 30027798, 30173656, 31629402		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	30530043		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	CTD_human_DG	2273594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nervous System Diseases	Nervous system disease	Pubtator	22718504	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nervous System Diseases	Nervous system disease	Pubtator	25025039	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	CTD_human_DG	11158245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	12564775, 18219386, 27856299, 30564192, 7722523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural tube defect	Pubtator	23792044	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10461909, 10899935, 12060716, 12067230, 12151755, 12437573, 12753090, 12901835, 12941444, 14981234, 15208263, 15289674, 15456693, 15670639, 15812313, 16806187, 16903849, 17394531, 17403032, 17979159, 17987632, 17997855, 18239850, 19101687, 20816908, 21120952, 22493728, 22875931, 23178912, 28666328, 31336405, 3334851, 9315720, 9861044		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	11701756, 12067230, 12437573, 12753090, 14513838, 17997855, 18239850	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	27671242, 30553531		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	11518706, 12482932, 12649272, 17548825, 20184893, 21228060, 23431167, 24143259, 26619801, 27282955, 27496206, 28185644, 28366453, 29859640, 30367664, 31341015, 32485097, 32762033, 34586830, 35512359, 36316849, 37119480, 7673954, 9600970	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10545780, 10764647, 10833316, 11071482, 11469788, 11796754, 11801324, 12093078, 12441104, 12442272, 12482932, 12649272, 14623191, 15310460, 15501831, 15663483, 16289867, 16421333, 16636274, 16636275, 16876390, 17127561, 17208444, 17328689, 17538774, 17548825, 17909153, 17913710, 17987632, 18378676, 19405049, 19567404, 19661182, 19929726, 20060132, 20184893, 20450936, 20515040, 20797535, 21055392, 21360076, 21660502, 21944779, 22027401, 22156608, 22185396, 22589106, 23291526, 23431152, 23431167, 23470532, 23508986, 23687121, 23760509, 23850290, 24092880, 24369116, 24682253, 24792378, 24936435, 25336041, 25482048, 25492944, 25600987, 25683489, 25754173, 25841320, 26162235, 26317470, 26362407, 26607786, 26643113, 26899735, 27041225, 27063797, 27158936, 27261461, 27282955, 27370226, 27551074, 27554286, 27917507, 28062667, 28271284, 28449871, 28449882, 28458007, 28472188, 28711596, 28715630, 28805578, 28872909, 28921378, 28975502, 29053667, 29109149, 29371591, 29394115, 29409023, 29417336, 29443939, 29486297, 29555476, 29559385, 29562705, 29630712, 29666246, 29863360, 29928993, 30037290, 30154836, 30255176, 30296255, 30341600, 30368622, 30463642, 30550795, 30654299, 30723395, 30735496, 31048504, 31222062, 31262807, 31341015, 31422280, 31474832, 31520967, 31521619, 31649034, 31702461, 31738976, 31744522, 31780563, 31800202, 31837419, 31846303, 7507613, 7846037, 7913294, 8025243, 8351519, 9008494, 9143265, 9527903, 9600970, 9932448		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	15704143, 24043596, 29125194		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	19293633, 29678369, 29742495		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28420164, 28571771, 29964102, 30460863, 31475569, 31756344		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24292713		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	26473392, 27889384		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	19493551		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	24042701		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	28420164, 28571771, 29577557, 30657578, 30762765		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	32709094, 33761612	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	37858747	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligospermia	Oligospermia	BEFREE	25109708, 31590572		★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	18193945		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	15720387	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	23250913		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	28962873, 30053446		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	35451420	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31004988		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	18258688		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	16179351		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20682985		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20117967, 25908445, 38166541	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	LHGDN	16525202		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	35205334	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	9144418		★☆☆☆☆ Found in Text Mining only
Papillon-Lefevre Disease	Papillon-Lefevre Disease	BEFREE	15911810, 28745069, 29868980, 31325016, 31711033		★☆☆☆☆ Found in Text Mining only
Paralysis Hyperkalemic Periodic	Paralysis	Pubtator	39509425	Associate	★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	9876871	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	11481695, 11571316, 11972798, 12663090, 15538967, 17987632, 20472062, 21844169, 23370975, 24176624, 25916564, 26643113, 27597528, 27663142, 28241758, 28412918, 28527045, 28571556, 29529199, 29576695, 29861271, 30877973, 31275228, 31301273, 31601079, 31738976, 31744522, 31820696, 7507613, 7608718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	15824117, 16353238, 21318773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	18243716, 18307039		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	21437559, 24567322, 31601079, 31744522, 34348022, 7608718	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	BEFREE	11889241, 21527311, 21830990, 22214312, 23254636, 24011980, 24144264, 26575405, 7431026, 9270568, 9371904		★☆☆☆☆ Found in Text Mining only
Partial Trisomy	Trisomy	BEFREE	2947534		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	28591691		★☆☆☆☆ Found in Text Mining only
Pendred syndrome	Pendred syndrome	Pubtator	25296320	Associate	★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	30565690		★☆☆☆☆ Found in Text Mining only
Peptic Esophagitis	Peptic Esophagitis	BEFREE	31602227		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	37390459	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	28039894		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	27063798, 31780761		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31780761		★☆☆☆☆ Found in Text Mining only
Persian Gulf Syndrome	Persian Gulf Syndrome	BEFREE	16822964		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	11772995		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	16421333, 19104447, 19252762, 19567404, 22670877, 23818065, 25173361, 27516603, 27671483, 28159885, 28165465, 28449882, 28790177, 29358076, 29423814, 31412164, 31702461, 31780563		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	24526356	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	36593322	Inhibit	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	22860700		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	26674569		★☆☆☆☆ Found in Text Mining only
Polyposis, Gastric	Gastric polyposis	BEFREE	20872977		★☆☆☆☆ Found in Text Mining only
Porphyria Acute Intermittent	Porphyria	Pubtator	27788171	Stimulate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29217357		★☆☆☆☆ Found in Text Mining only
Posterior Circulation Transient Ischemic Attack	Transient Ischemic Attack	CTD_human_DG	12629175, 15829915, 16538228, 16868554		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	1717112, 25274775		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	11396674, 16495328, 17469116, 19070491, 19929726, 22166431, 23250913, 23338750, 25916564, 28531237, 29403345, 30931630, 30946927, 31550516, 31702465, 31837425, 7431026		★☆☆☆☆ Found in Text Mining only
Primary Hyperthyroidism	Hyperthyroidism	CTD_human_DG	19914224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	30506397, 30770429		★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	BEFREE	30146930		★☆☆☆☆ Found in Text Mining only
Progressive bulbar palsy	Bulbar palsy	BEFREE	16936397, 26295823, 28140676		★☆☆☆☆ Found in Text Mining only
Progressive Muscular Atrophy	Progressive Muscular Atrophy	BEFREE	30665069		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	10534244, 19496940, 22424094, 29630712, 31744522		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17646272, 20477822, 24038157, 26599430, 30322333		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18806750		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24038157, 26599430, 27197287, 35508713, 37257224	Associate	★☆☆☆☆ Found in Text Mining only
Pseudobulbar Palsy	Pseudobulbar Palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	26473392, 27889384		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	28272301	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	18945604, 21309732, 35441963	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29872287	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	18441093		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23720777, 26699812, 30709583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	26699812		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Quadriplegia	Quadriplegia	BEFREE	30524258		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	22958044		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	22550220, 29990478		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	19142872		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	37811624	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	21736939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	BEFREE	12657672		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	22958044, 26477493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rett Syndrome	Rett Syndrome	BEFREE	26469135		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	18313405		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	18415766		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	21871117	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	23114103	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	25216585		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	15338334		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22001364, 27526115, 27889384, 28696262, 29782958		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	28639412	Associate	★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	20226689	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	12574946		★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	26224640		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	28514291	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	30159112	Inhibit	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	29081358, 31313021		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	24364470, 36563187	Associate	★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	11274309, 12427909, 18332255, 26224640, 28611571, 29270111, 30398641, 31794073		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	21660502, 27597528		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12447480		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29802697, 34785721	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	22940187, 29201162, 30050648		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	27349771		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20872977, 23030347		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	12679944, 30574618, 32767328	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	14503839, 20872977	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	35563254	Inhibit	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	12500096, 14756677, 30551525, 30773476		★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	31744522	Associate	★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	27703255		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28639412		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	12093078, 18759352, 22956189		★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease	Tay-Sachs Disease	BEFREE	11460829		★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 1 (disorder)	Thrombocytopenia	BEFREE	30423402		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	12130503	Inhibit	★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	16879248		★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	CTD_human_DG	12629175, 15829915, 16538228, 16868554		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	CTD_human_DG	12629175, 15829915, 16538228, 16868554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient Ischemic Attack, Anterior Circulation	Transient Ischemic Attack	CTD_human_DG	12629175, 15829915, 16538228, 16868554		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack, Vertebrobasilar Circulation	Transient Ischemic Attack	CTD_human_DG	12629175, 15829915, 16538228, 16868554		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	9690992		★☆☆☆☆ Found in Text Mining only
Trisomy 21, Meiotic Nondisjunction	Trisomy 21	CTD_human_DG	11181815		★☆☆☆☆ Found in Text Mining only
Trisomy 21, Mitotic Nondisjunction	Trisomy 21	CTD_human_DG	11181815		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	17540594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turner Syndrome	Turner Syndrome	CTD_human_DG	25101153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	28531922, 28595382, 29312611, 29401402, 29547907		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	CTD_human_DG	19605942		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	31202461		★☆☆☆☆ Found in Text Mining only
Ureteral Calculi	Ureteral Calculi	CTD_human_DG	24360074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urolithiasis	Urolithiasis	BEFREE	28808392		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	16879248		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	Pubtator	16879248	Stimulate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	LHGDN	17171548		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22320976	Inhibit	★☆☆☆☆ Found in Text Mining only
Vaginitis	Vaginitis	BEFREE	15731066, 18837169		★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	30003582		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	24316428	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	39490682	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	24036105, 29199612		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	38567607, 39337683	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	24036105, 29199612		★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	BEFREE	19618436, 21929355		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	24799429	Associate	★☆☆☆☆ Found in Text Mining only