SMN1 (survival of motor neuron 1, telomeric)

Gene

• Entrez ID: 6606
• Gene name: Survival of motor neuron 1, telomeric
• Gene symbol: SMN1
• Synonyms (NCBI Gene): BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A
• Chromosome: 5
• Chromosome location: 5q13.2
• Summary: This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021810	hsa-miR-132-3p	Microarray	17612493
MIRT028496	hsa-miR-30a-5p	Proteomics	18668040
MIRT029454	hsa-miR-26b-5p	Microarray	19088304
MIRT052963	hsa-miR-146a-5p	AGS	22020746
MIRT053151	hsa-miR-21-5p	Luciferase reporter assay, Western blot	23657402
MIRT053151	hsa-miR-21-5p	Luciferase reporter assay, Western blot	23657402
MIRT643049	hsa-miR-660-5p	HITS-CLIP	23824327
MIRT643047	hsa-miR-5591-3p	HITS-CLIP	23824327
MIRT643048	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT643046	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT643049	hsa-miR-660-5p	HITS-CLIP	23824327
MIRT643047	hsa-miR-5591-3p	HITS-CLIP	23824327
MIRT643048	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT643046	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT1373594	hsa-miR-1229	CLIP-seq
MIRT1373595	hsa-miR-141	CLIP-seq
MIRT1373596	hsa-miR-200a	CLIP-seq
MIRT1373597	hsa-miR-2053	CLIP-seq
MIRT1373598	hsa-miR-208a	CLIP-seq
MIRT1373599	hsa-miR-208b	CLIP-seq
MIRT1373600	hsa-miR-3163	CLIP-seq
MIRT1373601	hsa-miR-340	CLIP-seq
MIRT1373602	hsa-miR-342-3p	CLIP-seq
MIRT1373603	hsa-miR-3617	CLIP-seq
MIRT1373604	hsa-miR-3658	CLIP-seq
MIRT1373605	hsa-miR-4282	CLIP-seq
MIRT1373606	hsa-miR-494	CLIP-seq
MIRT1373607	hsa-miR-499-5p	CLIP-seq
MIRT1373608	hsa-miR-641	CLIP-seq
MIRT1373609	hsa-miR-1298	CLIP-seq
MIRT1373595	hsa-miR-141	CLIP-seq
MIRT1373610	hsa-miR-181a	CLIP-seq
MIRT1373611	hsa-miR-181b	CLIP-seq
MIRT1373612	hsa-miR-181c	CLIP-seq
MIRT1373613	hsa-miR-181d	CLIP-seq
MIRT1373614	hsa-miR-197	CLIP-seq
MIRT1373596	hsa-miR-200a	CLIP-seq
MIRT1373598	hsa-miR-208a	CLIP-seq
MIRT1373599	hsa-miR-208b	CLIP-seq
MIRT1373615	hsa-miR-23a	CLIP-seq
MIRT1373616	hsa-miR-23b	CLIP-seq
MIRT1373617	hsa-miR-23c	CLIP-seq
MIRT1373618	hsa-miR-3064-3p	CLIP-seq
MIRT1373619	hsa-miR-3120-5p	CLIP-seq
MIRT1373620	hsa-miR-3124-3p	CLIP-seq
MIRT1373621	hsa-miR-3143	CLIP-seq
MIRT1373622	hsa-miR-3180-5p	CLIP-seq
MIRT1373623	hsa-miR-323b-3p	CLIP-seq
MIRT1373603	hsa-miR-3617	CLIP-seq
MIRT1373604	hsa-miR-3658	CLIP-seq
MIRT1373624	hsa-miR-3671	CLIP-seq
MIRT1373625	hsa-miR-4262	CLIP-seq
MIRT1373626	hsa-miR-4698	CLIP-seq
MIRT1373627	hsa-miR-4715-3p	CLIP-seq
MIRT1373628	hsa-miR-4776-3p	CLIP-seq
MIRT1373606	hsa-miR-494	CLIP-seq
MIRT1373607	hsa-miR-499-5p	CLIP-seq
MIRT1373629	hsa-miR-513c	CLIP-seq
MIRT1373630	hsa-miR-514b-5p	CLIP-seq
MIRT1373631	hsa-miR-520a-5p	CLIP-seq
MIRT1373632	hsa-miR-525-5p	CLIP-seq
MIRT1373633	hsa-miR-543	CLIP-seq
MIRT1373634	hsa-miR-607	CLIP-seq
MIRT1373608	hsa-miR-641	CLIP-seq
MIRT1373635	hsa-miR-660	CLIP-seq
MIRT2111247	hsa-miR-101	CLIP-seq
MIRT2111248	hsa-miR-194	CLIP-seq
MIRT1373597	hsa-miR-2053	CLIP-seq
MIRT1373618	hsa-miR-3064-3p	CLIP-seq
MIRT1373621	hsa-miR-3143	CLIP-seq
MIRT1373623	hsa-miR-323b-3p	CLIP-seq
MIRT1373601	hsa-miR-340	CLIP-seq
MIRT2111249	hsa-miR-3607-3p	CLIP-seq
MIRT2111250	hsa-miR-3686	CLIP-seq
MIRT2111251	hsa-miR-4662a-3p	CLIP-seq
MIRT1373627	hsa-miR-4715-3p	CLIP-seq
MIRT2111252	hsa-miR-4760-5p	CLIP-seq
MIRT1373628	hsa-miR-4776-3p	CLIP-seq
MIRT2111253	hsa-miR-4778-5p	CLIP-seq
MIRT1373633	hsa-miR-543	CLIP-seq
MIRT1373609	hsa-miR-1298	CLIP-seq
MIRT2334386	hsa-miR-140-5p	CLIP-seq
MIRT1373595	hsa-miR-141	CLIP-seq
MIRT2111248	hsa-miR-194	CLIP-seq
MIRT1373596	hsa-miR-200a	CLIP-seq
MIRT1373598	hsa-miR-208a	CLIP-seq
MIRT1373599	hsa-miR-208b	CLIP-seq
MIRT1373618	hsa-miR-3064-3p	CLIP-seq
MIRT1373619	hsa-miR-3120-5p	CLIP-seq
MIRT1373621	hsa-miR-3143	CLIP-seq
MIRT1373601	hsa-miR-340	CLIP-seq
MIRT2334387	hsa-miR-3545-5p	CLIP-seq
MIRT2334388	hsa-miR-3591-5p	CLIP-seq
MIRT2111249	hsa-miR-3607-3p	CLIP-seq
MIRT1373603	hsa-miR-3617	CLIP-seq
MIRT1373604	hsa-miR-3658	CLIP-seq
MIRT2111250	hsa-miR-3686	CLIP-seq
MIRT2334389	hsa-miR-4460	CLIP-seq
MIRT2334390	hsa-miR-4473	CLIP-seq
MIRT2334391	hsa-miR-4671-3p	CLIP-seq
MIRT1373627	hsa-miR-4715-3p	CLIP-seq
MIRT2334392	hsa-miR-4727-3p	CLIP-seq
MIRT2334393	hsa-miR-4729	CLIP-seq
MIRT2111252	hsa-miR-4760-5p	CLIP-seq
MIRT1373628	hsa-miR-4776-3p	CLIP-seq
MIRT2111253	hsa-miR-4778-5p	CLIP-seq
MIRT1373607	hsa-miR-499-5p	CLIP-seq
MIRT2334394	hsa-miR-512-3p	CLIP-seq
MIRT2334395	hsa-miR-520f	CLIP-seq
MIRT1373633	hsa-miR-543	CLIP-seq
MIRT2334396	hsa-miR-616	CLIP-seq
MIRT1373608	hsa-miR-641	CLIP-seq
MIRT2111248	hsa-miR-194	CLIP-seq
MIRT1373618	hsa-miR-3064-3p	CLIP-seq
MIRT1373621	hsa-miR-3143	CLIP-seq
MIRT2334388	hsa-miR-3591-5p	CLIP-seq
MIRT2111249	hsa-miR-3607-3p	CLIP-seq
MIRT2111250	hsa-miR-3686	CLIP-seq
MIRT2334390	hsa-miR-4473	CLIP-seq
MIRT2334391	hsa-miR-4671-3p	CLIP-seq
MIRT1373627	hsa-miR-4715-3p	CLIP-seq
MIRT2334393	hsa-miR-4729	CLIP-seq
MIRT2111252	hsa-miR-4760-5p	CLIP-seq
MIRT1373628	hsa-miR-4776-3p	CLIP-seq
MIRT2111253	hsa-miR-4778-5p	CLIP-seq
MIRT2334394	hsa-miR-512-3p	CLIP-seq
MIRT2334395	hsa-miR-520f	CLIP-seq
MIRT1373633	hsa-miR-543	CLIP-seq
MIRT2334396	hsa-miR-616	CLIP-seq
MIRT2628421	hsa-miR-1224-3p	CLIP-seq
MIRT1373594	hsa-miR-1229	CLIP-seq
MIRT2628422	hsa-miR-1260	CLIP-seq
MIRT2628423	hsa-miR-1260b	CLIP-seq
MIRT2628424	hsa-miR-1280	CLIP-seq
MIRT1373609	hsa-miR-1298	CLIP-seq
MIRT2628425	hsa-miR-1305	CLIP-seq
MIRT1373610	hsa-miR-181a	CLIP-seq
MIRT1373611	hsa-miR-181b	CLIP-seq
MIRT1373612	hsa-miR-181c	CLIP-seq
MIRT1373613	hsa-miR-181d	CLIP-seq
MIRT1373614	hsa-miR-197	CLIP-seq
MIRT1373598	hsa-miR-208a	CLIP-seq
MIRT1373599	hsa-miR-208b	CLIP-seq
MIRT1373615	hsa-miR-23a	CLIP-seq
MIRT1373616	hsa-miR-23b	CLIP-seq
MIRT1373617	hsa-miR-23c	CLIP-seq
MIRT2628426	hsa-miR-3121-3p	CLIP-seq
MIRT1373600	hsa-miR-3163	CLIP-seq
MIRT2628427	hsa-miR-3176	CLIP-seq
MIRT1373623	hsa-miR-323b-3p	CLIP-seq
MIRT2628428	hsa-miR-33a	CLIP-seq
MIRT2628429	hsa-miR-33b	CLIP-seq
MIRT1373601	hsa-miR-340	CLIP-seq
MIRT1373602	hsa-miR-342-3p	CLIP-seq
MIRT1373603	hsa-miR-3617	CLIP-seq
MIRT1373624	hsa-miR-3671	CLIP-seq
MIRT2628430	hsa-miR-3922-3p	CLIP-seq
MIRT1373625	hsa-miR-4262	CLIP-seq
MIRT1373605	hsa-miR-4282	CLIP-seq
MIRT1373626	hsa-miR-4698	CLIP-seq
MIRT2628431	hsa-miR-4712-5p	CLIP-seq
MIRT2628432	hsa-miR-4720-3p	CLIP-seq
MIRT2628433	hsa-miR-4757-5p	CLIP-seq
MIRT2628434	hsa-miR-4804-3p	CLIP-seq
MIRT1373607	hsa-miR-499-5p	CLIP-seq
MIRT1373629	hsa-miR-513c	CLIP-seq
MIRT1373630	hsa-miR-514b-5p	CLIP-seq
MIRT2628435	hsa-miR-532-3p	CLIP-seq
MIRT2628436	hsa-miR-556-3p	CLIP-seq
MIRT1373634	hsa-miR-607	CLIP-seq
MIRT1373608	hsa-miR-641	CLIP-seq
MIRT2628437	hsa-miR-659	CLIP-seq
MIRT1373635	hsa-miR-660	CLIP-seq
MIRT2628438	hsa-miR-770-5p	CLIP-seq
MIRT2628439	hsa-miR-944	CLIP-seq
MIRT2628421	hsa-miR-1224-3p	CLIP-seq
MIRT1373594	hsa-miR-1229	CLIP-seq
MIRT2628422	hsa-miR-1260	CLIP-seq
MIRT2628423	hsa-miR-1260b	CLIP-seq
MIRT2628424	hsa-miR-1280	CLIP-seq
MIRT1373609	hsa-miR-1298	CLIP-seq
MIRT2628425	hsa-miR-1305	CLIP-seq
MIRT1373610	hsa-miR-181a	CLIP-seq
MIRT1373611	hsa-miR-181b	CLIP-seq
MIRT1373612	hsa-miR-181c	CLIP-seq
MIRT1373613	hsa-miR-181d	CLIP-seq
MIRT1373614	hsa-miR-197	CLIP-seq
MIRT1373598	hsa-miR-208a	CLIP-seq
MIRT1373599	hsa-miR-208b	CLIP-seq
MIRT1373615	hsa-miR-23a	CLIP-seq
MIRT1373616	hsa-miR-23b	CLIP-seq
MIRT1373617	hsa-miR-23c	CLIP-seq
MIRT2628426	hsa-miR-3121-3p	CLIP-seq
MIRT1373600	hsa-miR-3163	CLIP-seq
MIRT2628427	hsa-miR-3176	CLIP-seq
MIRT1373623	hsa-miR-323b-3p	CLIP-seq
MIRT2628428	hsa-miR-33a	CLIP-seq
MIRT2628429	hsa-miR-33b	CLIP-seq
MIRT1373601	hsa-miR-340	CLIP-seq
MIRT1373602	hsa-miR-342-3p	CLIP-seq
MIRT1373603	hsa-miR-3617	CLIP-seq
MIRT1373624	hsa-miR-3671	CLIP-seq
MIRT2628430	hsa-miR-3922-3p	CLIP-seq
MIRT1373625	hsa-miR-4262	CLIP-seq
MIRT1373605	hsa-miR-4282	CLIP-seq
MIRT1373626	hsa-miR-4698	CLIP-seq
MIRT2628431	hsa-miR-4712-5p	CLIP-seq
MIRT2628432	hsa-miR-4720-3p	CLIP-seq
MIRT2628433	hsa-miR-4757-5p	CLIP-seq
MIRT2628434	hsa-miR-4804-3p	CLIP-seq
MIRT1373607	hsa-miR-499-5p	CLIP-seq
MIRT1373629	hsa-miR-513c	CLIP-seq
MIRT1373630	hsa-miR-514b-5p	CLIP-seq
MIRT2628435	hsa-miR-532-3p	CLIP-seq
MIRT2628436	hsa-miR-556-3p	CLIP-seq
MIRT1373634	hsa-miR-607	CLIP-seq
MIRT1373608	hsa-miR-641	CLIP-seq
MIRT2628437	hsa-miR-659	CLIP-seq
MIRT1373635	hsa-miR-660	CLIP-seq
MIRT2628438	hsa-miR-770-5p	CLIP-seq
MIRT2628439	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
JUN	Repression	15550677
SRF	Activation	15550677

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000245	Process	Spliceosomal complex assembly	IMP	9845364
GO:0000245	Process	Spliceosomal complex assembly	NAS	9323129
GO:0000375	Process	RNA splicing, via transesterification reactions	IEA
GO:0000387	Process	Spliceosomal snRNP assembly	EXP	12067652
GO:0000387	Process	Spliceosomal snRNP assembly	IBA
GO:0000387	Process	Spliceosomal snRNP assembly	IDA	18984161
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	10500148, 11135666, 11283611, 11714716, 12065586, 12975319, 14715275, 15494309, 16087681, 17023415, 17178713, 18093976, 18984161, 19515850, 19928837, 20696395, 21070772, 21072240, 21496457, 21516116, 21653829, 21816274, 21900206, 22101937, 22365833, 22607171, 23022347, 23681068, 237
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11283611
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	17068332
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	9845364, 11283611, 17068332
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	18984161
GO:0005829	Component	Cytosol	TAS
GO:0006353	Process	DNA-templated transcription termination	IMP	26700805
GO:0006397	Process	MRNA processing	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IBA
GO:0015030	Component	Cajal body	IDA	11283611, 17068332
GO:0015030	Component	Cajal body	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016604	Component	Nuclear body	IEA
GO:0030018	Component	Z disc	IEA
GO:0030424	Component	Axon	IEA
GO:0032797	Component	SMN complex	IBA
GO:0032797	Component	SMN complex	IDA	11283611, 17178713, 18093976, 18984161
GO:0032797	Component	SMN complex	IPI	17178713
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	18093976
GO:0042802	Function	Identical protein binding	IPI	8670859, 14715275, 16189514, 19928837, 21516116, 22365833, 23022347, 25416956, 29997244, 32296183, 32814053, 35271311
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	18093976
GO:0043005	Component	Neuron projection	IEA
GO:0043204	Component	Perikaryon	IDA	18093976
GO:0043204	Component	Perikaryon	IEA
GO:0097504	Component	Gemini of Cajal bodies	IBA
GO:0097504	Component	Gemini of Cajal bodies	IDA	8670859, 9845364, 11283611, 17068332, 20513430
GO:0097504	Component	Gemini of Cajal bodies	IEA

Other IDs

• MIM: 600354
• HGNC: 11117
• e!Ensembl: ENSG00000172062

Interactions View interactions

Pathways

Reactome:

snRNP Assembly

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
Kugelberg-Welander disease	Likely pathogenic; Pathogenic	rs1554066659, rs1554066397, rs2112814388, rs104893931, rs77804083, rs104893927, rs104893932, rs2532126489, rs2532099835, rs2532112594, rs2532126303, rs2532126565, rs1554082110, rs397514517, rs397514518, rs1217001154, rs77668214, rs1561500842, rs1749441633	RCV000009736 RCV000009740 RCV000009743 RCV000009745 RCV000009747 RCV000009753 RCV000009756 RCV003237288 RCV004576116 RCV004576117 RCV004576118 RCV004576180 RCV000496588 RCV000032708 RCV000032709 RCV005036113 RCV000009750 RCV000785811 RCV001089661	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinal muscular atrophy	Pathogenic; Likely pathogenic	rs2112806512, rs2112806309, rs2532151486, rs77969175, rs104893922, rs1554066397, rs104893927, rs2532152556, rs1554082383, rs1561503058, rs141760116, rs1217001154, rs1290417835	RCV002273076 RCV002273293 RCV002640730 RCV002642356 RCV002470706 RCV005237366 RCV004786249 RCV003331771 RCV000586101 RCV000692613 RCV000780722 RCV000780721 RCV000780726 RCV001192812	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinal muscular atrophy, type II	Pathogenic; Likely pathogenic	rs1554066397, rs77804083, rs104893930, rs104893935, rs2532113034, rs2532112958, rs1561499713, rs1199331007, rs1554082110, rs1217001154, rs1561498701, rs77668214	RCV000009739 RCV000009746 RCV000009752 RCV000009755 RCV004576119 RCV004576120 RCV004576181 RCV004576182 RCV000496588 RCV005036113 RCV000785795 RCV000009749	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinal muscular atrophy, type IV	Pathogenic; Likely pathogenic	rs1554082110, rs1217001154, rs77668214	RCV000496588 RCV005036113 RCV000009751	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Werdnig-Hoffmann disease	Pathogenic; Likely pathogenic	rs2112806512, rs104893922, rs76163360, rs75991011, rs104893935, rs104893933, rs104893934, rs2532151610, rs2532112318, rs2532112991, rs2532112298, rs2532112594, rs2532126706, rs1554082110, rs1561500847, rs141760116, rs1217001154, rs77668214, rs1580886973, rs1749440512, rs1749776954	RCV005604807 RCV000009737 RCV000009738 RCV000009744 RCV000009754 RCV000009757 RCV000009758 RCV003330335 RCV003445470 RCV004574055 RCV004576115 RCV004691644 RCV004576184 RCV000496588 RCV000785794 RCV000785797 RCV005036113 RCV000009748 RCV002290507 RCV001194654 RCV001194661	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 2	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 4	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHIES OF CHILDHOOD	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY 4	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, INFANTILE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, TYPE 1	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, TYPE I	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, TYPE III	—	GenCC, HPO GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Medulloblastoma	Medulloblastoma	BEFREE	24190638		★☆☆☆☆ Found in Text Mining only
Alpers Syndrome (disorder)	Alpers Syndrome	BEFREE	30522974		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36764297	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30347409		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	11835381, 16093455, 16931506, 18759352, 19922137, 20840067, 21708901, 22249462, 22274580, 22323753, 23022481, 23255347, 23477310, 24210254, 24803543, 24809826, 25625564, 27466204, 28178525, 28459188, 28515487, 29313812, 29884807, 8651652		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	16931506		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	22274580, 22323753, 30786668, 33389754, 39506867	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	22187232	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	16931506, 22187232, 24630593		★☆☆☆☆ Found in Text Mining only
Amyotrophy, monomelic	Monomelic Amyotrophy	BEFREE	15642858, 17850955		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	23521898		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29660218		★☆☆☆☆ Found in Text Mining only
Anterior Horn Cell Disease	Anterior Horn Cell Disease	BEFREE	12220455		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	33910387	Inhibit	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30627559		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	8677029, 8787675, 9305352, 9748047		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	8787675		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	8787675	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28787016, 29940571		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	22197680		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30627559		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	14676483, 31560180, 37280513, 37542300	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy of the spinal cord	Atrophy of the spinal cord	BEFREE	27089520		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28640989		★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	BEFREE	27476469		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	27476469		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27476469		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	39254732	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	29645000		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30738403		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30535478		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19855377, 25011545	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	28456383		★☆☆☆☆ Found in Text Mining only
Bulbospinal Neuronopathy	Bulbospinal Neuronopathy	CTD_human_DG	15862279, 19150990, 21350916, 21819082, 27111068		★☆☆☆☆ Found in Text Mining only
Cancer of Head	Neoplasm of head	BEFREE	31410820		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36510964	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11339826		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	24133607	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26110787, 37594310	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31548493	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	16286998	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29934361		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	29660218	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31046126		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29329693, 29766355, 31824406		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26056290		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	26056290		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	18337101, 22083460, 9192274		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24190638		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31475182		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28534971		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	31322276		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28684188, 31029128		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	22568654		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	19625298, 22306031		★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	BEFREE	28104472		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	15119481		★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	BEFREE	1865475		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	18707767		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	18707767, 28792153		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28846080, 30179778		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	31322276		★☆☆☆☆ Found in Text Mining only
Cryoglobulinemia	Cryoglobulinemia	BEFREE	27476469		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24237934, 29187847		★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	33213169	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29067464, 31136992		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	29925309	Associate	★☆☆☆☆ Found in Text Mining only
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	CTD_human_DG	15862279, 19150990, 21350916, 21819082, 27111068		★☆☆☆☆ Found in Text Mining only
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	BEFREE	18263757, 9138162		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	28223108		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	16967488		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	24190638		★☆☆☆☆ Found in Text Mining only
epilepsy and migraine	Epilepsy And Migraine	BEFREE	19383090		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	28877445		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31046126		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	14597228		★☆☆☆☆ Found in Text Mining only
Familial Motor Neuron Disease	Motor Neuron Disease	BEFREE	11773003		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	31141855		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	26646359, 28091538, 28107589, 28117422, 28190475, 28625011, 28941022, 29160747, 29464186, 29518606, 29601129, 29799157, 29976890, 30114422, 30885249, 31084931, 31428875, 31678285, 31828132		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	21655642, 24083738, 25009400	Associate	★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	28708864, 28831377		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28029227, 28122160, 28529591, 29152068, 29416760, 30209740, 30945069		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28029227, 28122160, 28529591, 29152068, 29416760, 30209740, 30945069		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	14695218, 28377490		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34482648	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	27476469		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	21294120		★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	9124215		★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	29787588		★☆☆☆☆ Found in Text Mining only
Hereditary Motor Neuronopathy	Distal hereditary motor neuronopathy	CTD_human_DG	15862279, 19150990, 21350916, 21819082, 27111068		★☆☆☆☆ Found in Text Mining only
Heredodegenerative Disorders, Nervous System	Heredodegenerative Disorders, Nervous System	BEFREE	18791638		★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	10369885, 10700538, 11283611, 11303798, 11504604, 11734549, 12654964, 12815596, 12875676, 1785637, 18155522, 18263757, 18280979, 18662980, 1940135, 19780763, 20583119, 22302308, 2407400, 25572663, 26573968, 26794302, 29518354, 30548438, 31183542, 702182, 8530062, 8677029, 8773609, 8922999, 9719377, 9748045, 9748047		★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	CLINVAR_DG	10732817, 15580564, 7813012, 8922999		★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	UNIPROT_DG	10732817, 14715275, 15249625, 15580564, 21088113, 21389246, 7813012, 9147655		★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	GENOMICS_ENGLAND_DG	11826188, 7813012, 8787675		★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	CTD_human_DG	17924536		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27881486, 29143549		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	11266116, 11839954	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25015075		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	31532353		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31837334		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	16990614, 19652365, 23439433, 26399448, 27425145, 28057004, 28922731, 29774214		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	31487717, 31796125		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	28449468		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	11755948		★☆☆☆☆ Found in Text Mining only
Juvenile Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	10655542, 11303798, 14764971, 19198020, 21762474, 24334346, 25716911, 28668232, 8887955, 9153525		★☆☆☆☆ Found in Text Mining only
Juvenile Spinal Muscular Atrophy	Spinal Muscular Atrophy	UNIPROT_DG	10732817, 14715275, 9158159, 9837824		★☆☆☆☆ Found in Text Mining only
Juvenile Spinal Muscular Atrophy	Spinal Muscular Atrophy	GENOMICS_ENGLAND_DG	11826188, 7813012, 8787675		★☆☆☆☆ Found in Text Mining only
Juvenile Spinal Muscular Atrophy	Spinal Muscular Atrophy	CTD_human_DG	17924536		★☆☆☆☆ Found in Text Mining only
Juvenile Spinal Muscular Atrophy	Spinal Muscular Atrophy	CLINVAR_DG	9158159, 9837824		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	30106235		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36675308	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	17278201	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	17278201	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	31158377		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17611778, 23601182, 27358066, 28088733, 28668554, 30564864, 31029128, 31805888		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28684188, 31029128, 31671330		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	7772706		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	24570392		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25011545	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	30377209		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	21294120		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30535478		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25725585		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28341124		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23673986		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29934361		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22539990, 22563438, 26846996, 28952213, 30209740, 30866863		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26056290		★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	30352845		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24190638		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30873585		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33078756	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	31533641		★☆☆☆☆ Found in Text Mining only
Metastatic Dermatofibrosarcoma Protuberans	Metastatic Dermatofibrosarcoma Protuberans	BEFREE	28607608		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25609612		★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	BEFREE	30406765		★☆☆☆☆ Found in Text Mining only
Mitral valve dysplasia	Mitral Valve Dysplasia	BEFREE	25814644		★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	10655542, 11773003, 18093976, 20161659, 25088406, 26908606, 28811488, 30842449, 31019235, 9147655		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	10615130, 10732802, 10931943, 11313744, 11993528, 12165565, 14595654, 16049920, 16118268, 16931506, 17318264, 17850955, 17895963, 18166199, 18332255, 18371932, 19207472, 19228773, 19884170, 20157854, 21325354, 21708901, 21840928, 21979052, 22424789, 23022481, 23063131, 23221635, 23615451, 24360800, 25725227, 25735748, 27499521, 28132687, 28159932, 28199839, 29091557, 29790918, 29985170, 30788592, 31811660, 9073029, 9585359, 9748047		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	20157854, 39506867	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Lower	Motor Neuron Disease	BEFREE	11835381, 11993528, 12571787, 27647482, 9585359		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	31169683		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	10205265, 10205267, 10339583, 10500148, 10601333, 10719817, 10816558, 11147573, 11266116, 11389857, 11574476, 11584013, 11687598, 11704667, 11791208, 11821106, 11826188, 11839954, 11912351, 12411585, 12486110, 12642665, 12657835, 14676483, 15272122, 15304326, 15378550, 15608400, 15719043, 15726222, 15910686, 16169410, 16226920, 16301532, 16385450, 16451734, 16580882, 16617248, 16738131, 16845275, 16936383, 17170000, 17307868, 17505471, 17585203, 17592254, 17932457, 17953949, 18071605, 18533950, 18675250, 18720039, 18839960, 18971205, 18974562, 19103745, 19198020, 19244360, 19271042, 19351384, 19430205, 19440247, 19445707, 19480685, 19603064, 19625283, 19628962, 19701774, 19716110, 19997596, 20157854, 20186123, 20194437, 20197730, 20442745, 21072240, 21209906, 21220421, 21227393, 21233719, 21364876, 21421198, 21435220, 21610747, 21610752, 21654213, 21673580, 21762474, 21819082, 21971302, 22187232, 22362925, 22382180, 22393244, 22490618, 22558076, 22558154, 22607171, 22669976, 22994313, 23073312, 23112048, 23185376, 23253609, 23255680, 23299920, 23496866, 23565191, 23727837, 23788250, 23861442, 24317636, 24515897, 24616638, 24632473, 25497877, 25506695, 25727246, 25791416, 25888055, 26092730, 26123042, 26190808, 26214005, 26419278, 26468953, 26510457, 26573968, 26683872, 26739529, 27102838, 27345972, 27345977, 27425821, 27534852, 27893852, 27911332, 28115638, 28120840, 28125085, 28159932, 28199839, 28284873, 28481536, 28570645, 28623256, 28634652, 28666123, 28728573, 28792153, 28879433, 29091570, 29292768, 29434172, 29434173, 29434179, 29712837, 29806836, 29904179, 29925309, 30188899, 30304024, 30368521, 30539904, 30660867, 30788592, 30870495, 31339938, 31476167, 31556165, 31588198, 31594243, 31693467, 31707372, 31888525, 31956255, 31956256, 31956257, 32011487, 32029694, 32066871, 32067433, 32092542, 32181591, 32337852, 32473148, 32511765, 32552676, 32829585, 32878721, 33058415, 33148303, 33168084, 33190150, 33197628, 33199817, 33265090, 33300159, 33317029, 33407722, 33429824, 33438800, 33462199, 33724218, 33789695, 33798739, 33979606, 34276047, 34542403, 34620959, 34638572, 34681015, 34719420, 34850360, 34997153, 35033190, 35205250, 35241415, 35289093, 35437095, 35440492, 35456491, 35605311, 35659528, 35667685, 35858773, 35885927, 35887289, 35955418, 36036285, 36062320, 36078032, 36278357, 36292797, 36319109, 36375840, 36376972, 36421785, 36460469, 36534265, 36607273, 36669496, 36776076, 36803361, 36859245, 36882285, 36897914, 37087898, 37148485, 37280513, 37369805, 37424474, 37458045, 37510307, 37542300, 37594310, 37596438, 37705059, 37750622, 37830588, 37964750, 37991656, 38136980, 38214229, 38284446, 38325644, 38600653, 39325116, 39327607, 39343938, 39506867, 39587573, 39920747, 40018937, 40022154, 40069872, 40076610, 40119448, 40225149, 40282862, 8730281, 8782046, 8787675, 8808598, 8824882, 8929942, 8981949, 9004135, 9192274, 9245983, 9345102, 9634516, 9708795, 9713008, 9719377, 9837824	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	12192051, 22233647, 25514431, 27621445, 28139824, 30565205, 32456992, 35000792, 35409296, 36314213, 36911944, 37543540	Inhibit	★☆☆☆☆ Found in Text Mining only
Muscular atrophy, spinal, infantile chronic form	Spinal Muscular Atrophy	CTD_human_DG	17924536		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy, Spinal, Type II	Spinal Muscular Atrophy	UNIPROT_DG	10732802, 14715275, 21088113, 9158159, 9837824		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy, Spinal, Type II	Spinal Muscular Atrophy	GENOMICS_ENGLAND_DG	11826188, 7813012, 8787675		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy, Spinal, Type II	Spinal Muscular Atrophy	BEFREE	16936383, 19198020, 22512990, 23077013		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy, Spinal, Type II	Spinal Muscular Atrophy	CTD_human_DG	17924536		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy, Spinal, Type II	Spinal Muscular Atrophy	CLINVAR_DG	24498607		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	LHGDN	12657835		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	37596438	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	1483045, 29079012, 29890394		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	18707767, 21862330		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	39343938	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	18707767		★☆☆☆☆ Found in Text Mining only
Myelopathic Muscular Atrophy	Myelopathic Muscular Atrophy	CTD_human_DG	15862279, 19150990, 21350916, 21819082, 27111068		★☆☆☆☆ Found in Text Mining only
Myelopathic Muscular Atrophy	Myelopathic Muscular Atrophy	BEFREE	8786072		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30832557, 30977399		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	22561100		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	27647482		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	12571787		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	12391347, 31068947, 9748045		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	28804222		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	27896518		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11339826, 14695218, 16429394, 16733215, 18726131, 21112238, 22563438, 24242829, 24379641, 26083008, 27732748, 28414916, 28729525, 29048641, 29104110, 29207019, 29266774, 29346528, 29934361, 30179778, 30234992, 30367922, 30538458, 30851918, 30999154, 31234944, 31344491, 31760702		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	18300128	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	37369805	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25692239, 28029227, 28122160, 28393230, 30209740, 30945069		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	10601333, 11389857, 17307868, 22607171, 23185376, 23496866, 26092730, 37369805	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10725331, 11153908, 11389857, 12833158, 12878704, 14715275, 17307868, 18172693, 19351384, 20581815, 20705738, 21350916, 21681521, 21826391, 21920940, 21957043, 22197680, 22330725, 22763238, 23185376, 23352792, 23757500, 24332368, 24590288, 24769255, 24781211, 26331341, 26423457, 26464491, 27353697, 27401142, 27472505, 28069797, 28635376, 28852871, 29103974, 29209912, 29462610, 29872871, 30012555, 31799625, 31851921		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	10234506, 12441251, 12815596, 15580564, 15862279, 16118268, 17027862, 17103222, 17924536, 17932121, 18167563, 18216203, 18492800, 18546169, 18755223, 18923150, 18974562, 20025960, 20234094, 20494255, 20515750, 20578137, 20826664, 20829691, 20954180, 21118896, 21334976, 21542063, 21548796, 21631299, 21673580, 21693563, 21762474, 22798624, 23727837, 24172247, 24334346, 25014214, 25144193, 25801509, 26206889, 26311784, 27331400, 27460344, 27483257, 27557711, 27699224, 28017471, 28178525, 28379354, 28460014, 28642865, 28648462, 28808928, 29069603, 29091570, 29259166, 29290580, 29327642, 29433793, 29982483, 30006696, 30009132, 30027400, 30102724, 30548438, 30660867, 31211843, 31361024, 9837824		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	26739529, 30870495	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	9192274		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	31158377		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29660503, 30328321, 31706246		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31760702		★☆☆☆☆ Found in Text Mining only
Oculopharyngeal Spinal Muscular Atrophy	Oculopharyngeal Spinal Muscular Atrophy	CTD_human_DG	15862279, 19150990, 21350916, 21819082, 27111068		★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	2407400		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	23298926		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	29328529, 30001387		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	19271042, 8981949	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	19603064	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25725585		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	28935682		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	19996325		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28964628, 30003903, 31214901		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	30887626		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	29873615		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	18337101, 26794302		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	22159350, 30982374		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	22083460		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	23629817		★☆☆☆☆ Found in Text Mining only
Polyostotic fibrous dysplasia	Polyostotic Fibrous Dysplasia	BEFREE	31639402		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	28387446		★☆☆☆☆ Found in Text Mining only
Primary amyloidosis	Amyloidosis	BEFREE	28871194		★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	BEFREE	28685451		★☆☆☆☆ Found in Text Mining only
Progressive Muscular Atrophy	Progressive Muscular Atrophy	BEFREE	11993528, 23477310		★☆☆☆☆ Found in Text Mining only
Progressive Muscular Atrophy	Progressive Muscular Atrophy	CTD_human_DG	15862279, 19150990, 21350916, 21819082, 27111068		★☆☆☆☆ Found in Text Mining only
Progressive Proximal Myelopathic Muscular Atrophy	Progressive Proximal Myelopathic Muscular Atrophy	CTD_human_DG	15862279, 19150990, 21350916, 21819082, 27111068		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	23116162, 27586653, 30551371		★☆☆☆☆ Found in Text Mining only
PROPERDIN DEFICIENCY, X-LINKED	Properdin Deficiency, X-Linked	BEFREE	31639402		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28341124		★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Proximal spinal muscular atrophy type 1	Proximal spinal muscular atrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proximal spinal muscular atrophy type 2	Proximal spinal muscular atrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proximal spinal muscular atrophy type 3	Proximal spinal muscular atrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proximal spinal muscular atrophy type 4	Proximal spinal muscular atrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS 2	Psoriasis	BEFREE	27476469		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	28623647, 29270715, 30125539		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22451267, 24646714, 28283678, 28444932, 28547381, 29524411, 29645000, 29661186, 29849916, 29964173, 30709583, 30915142, 30915776, 31105564		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30179778		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	18037995, 27245114, 28099346, 29750635, 31028762, 31484043		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	CLINVAR_DG	17761649		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	18263757, 20085811, 21862330, 22669476, 24570392, 26709713, 30460449, 31040038		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	17276711		★☆☆☆☆ Found in Text Mining only
Scapuloperoneal Form of Spinal Muscular Atrophy	Scapuloperoneal spinal muscular atrophy	CTD_human_DG	15862279, 19150990, 21350916, 21819082, 27111068		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29650266		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	26357964	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	30460449		★☆☆☆☆ Found in Text Mining only
Secondary Peritonitis	Peritonitis	BEFREE	28877534		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	25502182		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	22568654		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	11266116, 11791208, 11924116, 12646976, 12768044, 15378550, 15719043, 18071605, 18974562, 19271042, 19997596, 21209906, 21762474, 21971302, 22971944, 26419278, 26468953, 26573968, 26607476, 28623256, 29091557, 29758563, 30304024, 30408476, 30548438, 31560180, 31589162, 32051521, 32144995, 32878721, 33168084, 33682724, 36292797, 36812914, 37038823, 37087898, 37424474, 8782046, 9004135, 9199562, 9713008, 9719377	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophies of Childhood	Spinal Muscular Atrophy	LHGDN	12374765		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophies of Childhood	Spinal Muscular Atrophy	CTD_human_DG	17924536		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	28159932	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	10205265, 10226744, 10234506, 10339583, 10369311, 10369862, 10369867, 10369885, 10405443, 10439956, 10496271, 10500148, 10508982, 10545039, 10556301, 10577272, 10601333, 10607836, 10615130, 10655541, 10675659, 10679938, 10686493, 10700538, 10700541, 10732802, 10732817, 10773822, 10838245, 10909848, 10931943, 11078511, 11085591, 11092763, 11121410, 11147573, 11153908, 11181573, 11266116, 11274309, 11281448, 11283611, 11287750, 11300720, 11303798, 11306862, 11313744, 11322942, 11354634, 11379882, 11424133, 11438957, 11504604, 11504946, 11528396, 11562575, 11574104, 11574669, 11641277, 11704667, 11704813, 11721063, 11733135, 11734549, 11773003, 11791208, 11821106, 11826188, 11835381, 11839954, 11875052, 11907229, 11921836, 11925564, 11935338, 11978761, 12001651, 12116201, 12165565, 12210580, 12220455, 12242541, 12397076, 12411585, 12427909, 12436240, 12441251, 12442269, 12452462, 12614569, 12642665, 12654964, 12673282, 12760430, 12761038, 12768044, 12815596, 12833158, 12847076, 12872254, 12875676, 12878704, 12879360, 12915451, 12952942, 14501843, 14520560, 14578966, 14586604, 14595654, 14597228, 14697339, 14705979, 14711346, 14715275, 14764971, 14766219, 15000803, 15000810, 15119481, 15162126, 15249625, 15272122, 15372251, 15459957, 15523494, 15580564, 15586177, 15599397, 15608400, 15772743, 15790598, 15804053, 15832310, 15843395, 15862279, 15871052, 15910686, 15944201, 15964810, 15981080, 16000068, 16049920, 16093455, 16118268, 16204184, 16226920, 16301493, 16301532, 16364894, 16439605, 16449324, 16449646, 16473550, 16481599, 16508748, 16544998, 16554261, 16580882, 16607616, 16617248, 16651888, 16724231, 16865356, 16899656, 16931506, 16936383, 16941715, 16951947, 17027862, 17049859, 17178713, 17276711, 17296838, 17307868, 17318264, 17392705, 17415510, 17475491, 17505471, 17551501, 17585203, 17609673, 17625510, 17627822, 17635841, 17640370, 17647030, 17717146, 17761649, 17761651, 17761653, 17761654, 17761655, 17761657, 17884807, 17895963, 17924536, 17932121, 17998247, 18078382, 18078930, 18093976, 18155522, 18166199, 18172693, 18178576, 18205293, 18216203, 18332255, 18337101, 18337729, 18345520, 18371932, 18440926, 18455159, 18492800, 18508340, 18546169, 18590823, 18601974, 18603534, 18629520, 18633133, 18649067, 18651653, 18662980, 18672065, 18720039, 18771690, 18791638, 18794368, 18842367, 18941511, 18971205, 18974562, 19010792, 19050931, 19150990, 19154529, 19198020, 19207472, 19215052, 19228773, 19286363, 19287802, 19309272, 19329542, 19351384, 19373809, 19378506, 19430205, 19440247, 19480685, 19517146, 19535574, 19538222, 19584083, 19584893, 19592581, 19603064, 19625298, 19663601, 19664890, 19716110, 19758605, 19780763, 19848583, 19860664, 19884170, 19897588, 19904299, 19922137, 19953646, 19961830, 20025960, 20057317, 20085811, 20090376, 20097679, 20157854, 20161659, 20186123, 20194437, 20225030, 20234094, 20392710, 20400941, 20425235, 20442745, 20494255, 20515750, 20563565, 20564270, 20577007, 20578137, 20581815, 20583119, 20605078, 20659551, 20679391, 20696672, 20705738, 20826664, 20829691, 20837492, 20840067, 20884664, 20954180, 20962036, 21047176, 21082361, 21098506, 21118896, 21124729, 21171094, 21174137, 21220421, 21233719, 21300694, 21325354, 21334976, 21338334, 21339974, 21350916, 21362338, 21368223, 21482919, 21529108, 21542063, 21546251, 21548796, 21610752, 21631299, 21654213, 21672919, 21673580, 21681521, 21693563, 21705024, 21708901, 21762474, 21785213, 21785219, 21816274, 21819082, 21821450, 21825986, 21826391, 21840928, 21862330, 21920940, 21925145, 21942573, 21950724, 21957043, 21971302, 21979052, 22083460, 22085534, 22134788, 22187232, 22197680, 22220673, 22249462, 22302308, 22323744, 22330725, 22362925, 22382180, 22393244, 22422766, 22454072, 22490618, 22558076, 22558154, 22661569, 22669476, 22678974, 22683329, 22701806, 22703880, 22705478, 22750651, 22763238, 22771969, 22798624, 22802075, 22847162, 22884440, 22924510, 22994313, 23022481, 23029491, 23063130, 23063131, 23077215, 23103409, 23112048, 23132709, 23136128, 23157239, 23185376, 23221635, 23255347, 23298926, 23299920, 23315303, 23352792, 23390132, 23467345, 23512182, 23514457, 23615451, 23629817, 23630626, 23656793, 23664116, 23664119, 23727836, 23727837, 23736298, 23740718, 23757500, 23788250, 23799925, 23839956, 23863147, 23876144, 23893312, 23939659, 24014320, 24067532, 24085424, 24124019, 24172247, 24210254, 24317636, 24332368, 24359787, 24360800, 24391840, 24515897, 24563475, 24590288, 24632473, 24645792, 24722206, 24751385, 24769255, 24781211, 24803543, 24844453, 24845847, 24909772, 24923693, 24990202, 25014214, 25068989, 25088406, 25104390, 25113913, 25144193, 25180019, 25459970, 25483032, 25502182, 25506695, 25514431, 25516063, 25557785, 25561692, 25572663, 25609612, 25625564, 25631888, 25692239, 25716911, 25727246, 25801509, 25838041, 25847462, 25888055, 25895942, 25911676, 25920617, 25986506, 26030728, 26063904, 26100331, 26109022, 26123042, 26134627, 26173388, 26189552, 26190808, 26206889, 26214005, 26311540, 26311784, 26321202, 26331341, 26381381, 26419278, 26423457, 26438828, 26464491, 26468953, 26510457, 26548498, 26573968, 26700805, 26739529, 26758873, 26794302, 26908606, 26931466, 27089520, 27102838, 27111068, 27155573, 27241020, 27268759, 27299419, 27299569, 27331400, 27353697, 27401142, 27402754, 27425821, 27460292, 27460344, 27466204, 27472505, 27483257, 27499521, 27510309, 27557711, 27621445, 27685758, 27698380, 27699224, 27730768, 27893852, 27894243, 27907033, 27939059, 28017471, 28069797, 28120840, 28125085, 28132687, 28139824, 28152480, 28159932, 28161391, 28178525, 28193854, 28199839, 28250049, 28284873, 28289706, 28366534, 28379354, 28389270, 28412171, 28426667, 28441483, 28450545, 28456383, 28459188, 28460014, 28481536, 28485722, 28515487, 28522225, 28556834, 28570645, 28577599, 28604635, 28623256, 28634552, 28635376, 28637335, 28642865, 28648462, 28666123, 28676237, 28684086, 28728573, 28755059, 28768735, 28775379, 28797588, 28799578, 28808928, 28811488, 28823932, 28826912, 28852871, 28879433, 28899515, 28929094, 28945765, 28950212, 28981879, 28983837, 29061699, 29066780, 29069603, 29079012, 29080838, 29091557, 29091570, 29096367, 29103974, 29160009, 29187847, 29209912, 29220503, 29259166, 29263925, 29273277, 29281826, 29290580, 29292768, 29294245, 29316633, 29327642, 29378426, 29380287, 29391529, 29422644, 29433793, 29434670, 29473159, 29484287, 29507115, 29518354, 29552580, 29580671, 29598153, 29636864, 29649521, 29656927, 29672276, 29703692, 29712837, 29742241, 29758563, 29790918, 29799103, 29806836, 29858094, 29872871, 29884807, 29902268, 29904179, 29941967, 29961886, 29982416, 29982483, 29985170, 30006696, 30008228, 30010942, 30012555, 30027400, 30065610, 30093179, 30102724, 30116818, 30158155, 30171535, 30171558, 30171559, 30188931, 30203652, 30221755, 30233310, 30304024, 30327977, 30368521, 30407821, 30408476, 30414815, 30481286, 30535775, 30539904, 30548438, 30553700, 30565205, 30582825, 30593463, 30649277, 30660867, 30667343, 30733501, 30738403, 30788592, 30805745, 30870495, 31019235, 31040038, 31060774, 31102025, 31127156, 31156382, 31183542, 31201046, 31211843, 31230718, 31243392, 31270752, 31271088, 31272106, 31273192, 31277975, 31301241, 31322019, 31323435, 31361024, 31363188, 31363739, 31371124, 31543414, 31563042, 31583591, 31641587, 31734026, 31736847, 31797327, 31799625, 31803009, 31811660, 31824406, 31825542, 31828288, 31851921, 7581364, 7581461, 7813012, 8088834, 8401498, 8432521, 8595417, 8677029, 8786072, 8787675, 8808598, 8852661, 8875190, 8882869, 8887955, 8922999, 8929942, 8957014, 8968751, 9002676, 9063743, 9067434, 9073029, 9147655, 9153454, 9153488, 9153525, 9185186, 9192274, 9207792, 9225684, 9259265, 9295075, 9302277, 9341874, 9341891, 9345102, 9389483, 9443903, 9590291, 9667776, 9668169, 9719377, 9731538, 9783849, 9801871, 9818944, 9837824, 9845364		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinal Muscular Atrophy	Spinal Muscular Atrophy	CLINVAR_DG	10679938, 11839954, 18155522, 18572081, 19050931, 20442745, 26606804		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinal Muscular Atrophy	Spinal Muscular Atrophy	LHGDN	11791208, 11992267, 14520560, 15119481, 15459957, 15580564, 15726222, 16331551, 16449646, 16481599, 16617248, 17250498, 17592254, 17682539, 18172693, 18332255, 18337729		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinal Muscular Atrophy	Spinal Muscular Atrophy	CTD_human_DG	15862279, 19150990, 21350916, 21819082, 27111068		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinal Muscular Atrophy	Spinal Muscular Atrophy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinal muscular atrophy 4	Spinal muscular atrophy	Pubtator	37964750	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal muscular atrophy 4	Spinal Muscular Atrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1	SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS	BEFREE	26709713, 26860981		★☆☆☆☆ Found in Text Mining only
SPINAL MUSCULAR ATROPHY, TYPE IV	Spinal Muscular Atrophy	GENOMICS_ENGLAND_DG	11826188, 7813012, 8787675		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPINAL MUSCULAR ATROPHY, TYPE IV	Spinal Muscular Atrophy	CLINVAR_DG	21542063		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28626969, 36675308	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29444136		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23673986		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	18460022		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23413114		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	23897578		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30367922, 30538458		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	27647482		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	29082249, 31141855		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	28079834		★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	BEFREE	28104472		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	9124215		★☆☆☆☆ Found in Text Mining only