SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin)

Gene

• Entrez ID: 6687
• Gene name: SPG7 matrix AAA peptidase subunit, paraplegin
• Gene symbol: SPG7
• Synonyms (NCBI Gene): CAR, CMAR, PGN, SPG5C
• Chromosome: 16
• Chromosome location: 16q24.3
• Summary: This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organe

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61755320	C>T	Uncertain-significance, pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72547551	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72547552	G>A	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs111475461	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs114135540	G>A,C,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs116319889	C>T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, synonymous variant, coding sequence variant
rs121918357	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs121918358	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs138671904	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs141644720	G>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs141659620	G>A,C	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs149474131	C>A,G,T	Likely-benign, pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs149797758	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs151249432	C>G,T	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs267607085	G>C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs368373840	G>A,C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs369227537	A>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs372981030	A>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs535030441	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs562890289	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs568556987	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs745444834	G>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs746053679	G>A,C,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs746099594	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs747503698	->T	Conflicting-interpretations-of-pathogenicity, pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs748255454	GCTGGTGGCCAAGGCCT>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs748309520	G>A	Pathogenic	Splice acceptor variant
rs748555510	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs748600162	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs752257333	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs752623413	T>C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs752989523	G>A,C	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs758702550	C>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs760818649	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs762795756	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs764791523	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766155407	TC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs768136171	TG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs768595656	TT>C,T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs768823392	GGCGGGAGA>-	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, non coding transcript variant
rs772828460	AG>-	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs774774648	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, stop gained
rs775364547	CCCCCGGCTGTGGGAAGACGCTGCTGGCC>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs794726906	A>C,G,T	Likely-pathogenic	Non coding transcript variant, missense variant, initiator codon variant
rs797046003	->T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863224220	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs863224223	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs863224924	T>CCAAGTCTGTA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs864622094	T>C	Uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs864622507	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs878854606	GATTATCTGAAGGTG>-	Pathogenic, likely-pathogenic	Splice donor variant, non coding transcript variant, intron variant, coding sequence variant
rs879253797	C>T	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs879253798	TC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs912983346	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060503425	GG>AGC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085307874	GAGAGCGGCTGCGCACC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1131691968	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1217391623	G>-	Pathogenic	3 prime UTR variant, frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1229749476	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1235945505	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1314660313	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1319347094	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs1373388852	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1412575396	G>C,T	Likely-pathogenic	Splice donor variant
rs1555617559	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1567934754	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1597597437	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1597661607	TGG>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1597665063	CAG>-	Likely-pathogenic, pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1597665080	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT739161	hsa-miR-1225-3p	HITS-CLIP	33718276
MIRT1383864	hsa-miR-1207-3p	CLIP-seq
MIRT1383865	hsa-miR-1208	CLIP-seq
MIRT739160	hsa-miR-1233	CLIP-seq
MIRT1383866	hsa-miR-1266	CLIP-seq
MIRT1383867	hsa-miR-130a	CLIP-seq
MIRT1383868	hsa-miR-130b	CLIP-seq
MIRT1383869	hsa-miR-1909	CLIP-seq
MIRT1383870	hsa-miR-19a	CLIP-seq
MIRT1383871	hsa-miR-19b	CLIP-seq
MIRT1383872	hsa-miR-224	CLIP-seq
MIRT1383873	hsa-miR-301a	CLIP-seq
MIRT1383874	hsa-miR-301b	CLIP-seq
MIRT1383875	hsa-miR-3666	CLIP-seq
MIRT1383876	hsa-miR-3944-5p	CLIP-seq
MIRT1383877	hsa-miR-4295	CLIP-seq
MIRT1383878	hsa-miR-4330	CLIP-seq
MIRT1383879	hsa-miR-4518	CLIP-seq
MIRT1383880	hsa-miR-454	CLIP-seq
MIRT739159	hsa-miR-4687-5p	CLIP-seq
MIRT1383881	hsa-miR-4695-3p	CLIP-seq
MIRT1383882	hsa-miR-4765	CLIP-seq
MIRT1383883	hsa-miR-510	CLIP-seq
MIRT1383884	hsa-miR-519a	CLIP-seq
MIRT1383885	hsa-miR-519b-3p	CLIP-seq
MIRT1383886	hsa-miR-519c-3p	CLIP-seq
MIRT1383887	hsa-miR-1245b-5p	CLIP-seq
MIRT1383888	hsa-miR-1321	CLIP-seq
MIRT1383889	hsa-miR-1915	CLIP-seq
MIRT1383890	hsa-miR-3065-5p	CLIP-seq
MIRT1383891	hsa-miR-3142	CLIP-seq
MIRT1383892	hsa-miR-3179	CLIP-seq
MIRT1383893	hsa-miR-4650-5p	CLIP-seq
MIRT1383894	hsa-miR-4704-3p	CLIP-seq
MIRT1383895	hsa-miR-4726-3p	CLIP-seq
MIRT1383896	hsa-miR-4739	CLIP-seq
MIRT1383897	hsa-miR-4756-5p	CLIP-seq
MIRT1557087	hsa-miR-3135	CLIP-seq
MIRT1557088	hsa-miR-3612	CLIP-seq
MIRT1557089	hsa-miR-3689d	CLIP-seq
MIRT1557090	hsa-miR-4266	CLIP-seq
MIRT1557091	hsa-miR-4443	CLIP-seq
MIRT1557092	hsa-miR-4695-5p	CLIP-seq
MIRT1557093	hsa-miR-4779	CLIP-seq
MIRT1557094	hsa-miR-485-5p	CLIP-seq
MIRT1557095	hsa-miR-610	CLIP-seq
MIRT1557096	hsa-miR-650	CLIP-seq
MIRT1383887	hsa-miR-1245b-5p	CLIP-seq
MIRT1383890	hsa-miR-3065-5p	CLIP-seq
MIRT1383891	hsa-miR-3142	CLIP-seq
MIRT1383894	hsa-miR-4704-3p	CLIP-seq
MIRT1383865	hsa-miR-1208	CLIP-seq
MIRT2337589	hsa-miR-141	CLIP-seq
MIRT1383869	hsa-miR-1909	CLIP-seq
MIRT2337590	hsa-miR-200a	CLIP-seq
MIRT2337591	hsa-miR-214	CLIP-seq
MIRT2337592	hsa-miR-217	CLIP-seq
MIRT1383872	hsa-miR-224	CLIP-seq
MIRT2337593	hsa-miR-324-5p	CLIP-seq
MIRT2337594	hsa-miR-34a	CLIP-seq
MIRT2337595	hsa-miR-34c-5p	CLIP-seq
MIRT2337596	hsa-miR-3619-5p	CLIP-seq
MIRT2337597	hsa-miR-3910	CLIP-seq
MIRT1383876	hsa-miR-3944-5p	CLIP-seq
MIRT1383878	hsa-miR-4330	CLIP-seq
MIRT2337598	hsa-miR-449a	CLIP-seq
MIRT2337599	hsa-miR-449b	CLIP-seq
MIRT2337600	hsa-miR-455-3p	CLIP-seq
MIRT2337601	hsa-miR-4717-3p	CLIP-seq
MIRT2337602	hsa-miR-486-3p	CLIP-seq
MIRT2337603	hsa-miR-634	CLIP-seq
MIRT2337604	hsa-miR-761	CLIP-seq
MIRT2337605	hsa-miR-767-5p	CLIP-seq
MIRT2337606	hsa-miR-885-3p	CLIP-seq
MIRT2631181	hsa-miR-1179	CLIP-seq
MIRT2631182	hsa-miR-1197	CLIP-seq
MIRT2631183	hsa-miR-1270	CLIP-seq
MIRT1383869	hsa-miR-1909	CLIP-seq
MIRT2337591	hsa-miR-214	CLIP-seq
MIRT2631184	hsa-miR-3127-3p	CLIP-seq
MIRT2631185	hsa-miR-3135b	CLIP-seq
MIRT2631186	hsa-miR-3180	CLIP-seq
MIRT2631187	hsa-miR-3180-3p	CLIP-seq
MIRT2631188	hsa-miR-3196	CLIP-seq
MIRT2337594	hsa-miR-34a	CLIP-seq
MIRT2337595	hsa-miR-34c-5p	CLIP-seq
MIRT2337596	hsa-miR-3619-5p	CLIP-seq
MIRT2631189	hsa-miR-3918	CLIP-seq
MIRT2631190	hsa-miR-4284	CLIP-seq
MIRT2631191	hsa-miR-4419a	CLIP-seq
MIRT2337598	hsa-miR-449a	CLIP-seq
MIRT2337599	hsa-miR-449b	CLIP-seq
MIRT2631192	hsa-miR-4510	CLIP-seq
MIRT2337600	hsa-miR-455-3p	CLIP-seq
MIRT2631193	hsa-miR-4683	CLIP-seq
MIRT2631194	hsa-miR-4710	CLIP-seq
MIRT2337601	hsa-miR-4717-3p	CLIP-seq
MIRT2631195	hsa-miR-4792	CLIP-seq
MIRT2337602	hsa-miR-486-3p	CLIP-seq
MIRT2631196	hsa-miR-513a-5p	CLIP-seq
MIRT2631197	hsa-miR-517a	CLIP-seq
MIRT2631198	hsa-miR-517b	CLIP-seq
MIRT2631199	hsa-miR-517c	CLIP-seq
MIRT2631200	hsa-miR-620	CLIP-seq
MIRT2337604	hsa-miR-761	CLIP-seq
MIRT2337605	hsa-miR-767-5p	CLIP-seq
MIRT2631201	hsa-miR-873	CLIP-seq
MIRT2337606	hsa-miR-885-3p	CLIP-seq
MIRT2631181	hsa-miR-1179	CLIP-seq
MIRT2631182	hsa-miR-1197	CLIP-seq
MIRT2631183	hsa-miR-1270	CLIP-seq
MIRT1383869	hsa-miR-1909	CLIP-seq
MIRT2337591	hsa-miR-214	CLIP-seq
MIRT2631184	hsa-miR-3127-3p	CLIP-seq
MIRT2631185	hsa-miR-3135b	CLIP-seq
MIRT2631186	hsa-miR-3180	CLIP-seq
MIRT2631187	hsa-miR-3180-3p	CLIP-seq
MIRT2631188	hsa-miR-3196	CLIP-seq
MIRT2337594	hsa-miR-34a	CLIP-seq
MIRT2337595	hsa-miR-34c-5p	CLIP-seq
MIRT2337596	hsa-miR-3619-5p	CLIP-seq
MIRT2631189	hsa-miR-3918	CLIP-seq
MIRT2631190	hsa-miR-4284	CLIP-seq
MIRT2631191	hsa-miR-4419a	CLIP-seq
MIRT2337598	hsa-miR-449a	CLIP-seq
MIRT2337599	hsa-miR-449b	CLIP-seq
MIRT2631192	hsa-miR-4510	CLIP-seq
MIRT2337600	hsa-miR-455-3p	CLIP-seq
MIRT2631193	hsa-miR-4683	CLIP-seq
MIRT2631194	hsa-miR-4710	CLIP-seq
MIRT2337601	hsa-miR-4717-3p	CLIP-seq
MIRT2631195	hsa-miR-4792	CLIP-seq
MIRT2337602	hsa-miR-486-3p	CLIP-seq
MIRT2631196	hsa-miR-513a-5p	CLIP-seq
MIRT2631197	hsa-miR-517a	CLIP-seq
MIRT2631198	hsa-miR-517b	CLIP-seq
MIRT2631199	hsa-miR-517c	CLIP-seq
MIRT2631200	hsa-miR-620	CLIP-seq
MIRT2337604	hsa-miR-761	CLIP-seq
MIRT2337605	hsa-miR-767-5p	CLIP-seq
MIRT2631201	hsa-miR-873	CLIP-seq
MIRT2337606	hsa-miR-885-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004176	Function	ATP-dependent peptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	28396416, 31097542
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	14623864, 16189514, 21516116, 25416956, 26387735, 28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9635427
GO:0005743	Component	Mitochondrial inner membrane	IDA	9635427
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005745	Component	M-AAA complex	IBA
GO:0005745	Component	M-AAA complex	IDA	28396416
GO:0005745	Component	M-AAA complex	IEA
GO:0005757	Component	Mitochondrial permeability transition pore complex	IDA	26387735
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	9635427
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007399	Process	Nervous system development	TAS	9635427
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	TAS	9635427
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0034982	Process	Mitochondrial protein processing	IBA
GO:0036444	Process	Calcium import into the mitochondrion	IDA	22925203, 32494073
GO:0036444	Process	Calcium import into the mitochondrion	IMP	22925203, 23755363, 27099988, 27642048
GO:0046872	Function	Metal ion binding	IEA
GO:0046902	Process	Regulation of mitochondrial membrane permeability	IEA
GO:0046902	Process	Regulation of mitochondrial membrane permeability	IMP	26387735
GO:0051082	Function	Unfolded protein binding	TAS	9635427
GO:0110097	Process	Regulation of calcium import into the mitochondrion	IDA	28396416, 31097542
GO:1902686	Process	Mitochondrial outer membrane permeabilization involved in programmed cell death	IEA
GO:1902686	Process	Mitochondrial outer membrane permeabilization involved in programmed cell death	IMP	26387735
GO:1904115	Component	Axon cytoplasm	IEA

Other IDs

• MIM: 602783
• HGNC: 11237
• e!Ensembl: ENSG00000197912

Protein

• UniProt ID: Q9UQ90
• Protein name: Mitochondrial inner membrane m-AAA protease component paraplegin (EC 3.4.24.-) (EC 3.6.-.-) (Cell matrix adhesion regulator) (Paraplegin) (Spastic paraplegia 7 protein)
• Protein function: Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed:11549317, PubMed:28396416, PubMed:31097542, Pu
• PDB: 2QZ4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06480	FtsH_ext	142 → 242	FtsH Extracellular	Family
  PF00004	AAA	345 → 479	ATPase family associated with various cellular activities (AAA)	Domain
  PF17862	AAA_lid_3	506 → 547	AAA+ lid domain	Domain
  PF01434	Peptidase_M41	561 → 746	Peptidase family M41	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MAVLLLLLRALRRGPGPGPRPLWGPGPAWSPGFPARPGRGRPYMASRPPGDLAEAGGRAL
  QSLQLRLLTPTFEGINGLLLKQHLVQNPVRLWQLLGGTFYFNTSRLKQKNKEKDKSKGKA
  PEEDEEERRRRERDDQMYRERLRTLLVIAVVMSLLNALSTSGGSISWNDFVHEMLAKGEV
  QRVQVVPESDVVEVYLHPGAVVFGRPRLALMYRMQVANIDKFEEKLRAAEDELNIEAKDR
  IPVSYKRTGFFGNALYSVGMTAVGLAILWYVFRLAGMTGREGGFSAFNQLKMARFTIVDG
  KMGKGVSFKDVAGMHEAKLEVREFVDYLKSPERFLQLGAKVPKGALLLGPPGCGKTLLAK
  AVATEAQVPFLAMAGPEFVEVIGGLGAARVRSLFKEARARAPCIVYIDEIDAVGKKRSTT
  MSGFSNTEEEQTLNQLLVEMDGMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLP
  TLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSGADIANICNEAALHAAREGHTSV
  HTLNFEYAVERVLAGTAKKSKILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRT
  NAALGFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSFNEVTSGAQDDLRKVTRIAYS
  MVKQFGMAPGIGPISFPEAQEGLMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQD
  NLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMIAPQRWIDAQREKQDLGEEETEE
  TQQPPLGGEEPTWPK

• Sequence length: 795

Pathways

Reactome:

Processing of SMDT1

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
Cerebral cortical atrophy	Pathogenic	rs768823392	RCV000626835	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs141644720	RCV005912224	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal spinal muscular atrophy	Pathogenic	rs768823392	RCV000664257	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysarthria	Pathogenic	rs768823392	RCV000626835	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Likely pathogenic; Pathogenic	rs746053679	RCV003447529	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gait ataxia	Pathogenic	rs768823392	RCV000626836	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary ataxia	Likely pathogenic; Pathogenic	rs369227537, rs121918358	RCV005625350 RCV005624679	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary pancreatitis	Likely pathogenic; Pathogenic	rs369503365	RCV004526729	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs769602042, rs146115797, rs369227537, rs372981030, rs752623413, rs748309520, rs72547551, rs752989523, rs879253797, rs121918358, rs141659620, rs762795756, rs774774648, rs562890289, rs760818649, rs768823392, rs912983346, rs768136171, rs141644720, rs1482442290	RCV001848235 RCV001848240 RCV001847793 RCV001847888 RCV001847889 RCV001847907 RCV001847906 RCV001847908 RCV001847905 RCV001847594 RCV001847595 RCV001848041 RCV001848059 RCV000515851 RCV000824802 RCV000516115 RCV000515979 RCV000615294 RCV001847130 RCV001847223	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spastic paraplegia 7	Likely pathogenic; Pathogenic	rs2058661636, rs2152392876, rs776380988, rs2058358241, rs1452259575, rs1332265538, rs2152403474, rs2152400490, rs370777371, rs2152411070, rs1567933730, rs1031614168, rs2058667949, rs146115797, rs1597635592, rs2152403446, rs797046003, rs2152402791, rs760818649, rs1355240257, rs946925151, rs2152403519, rs763413730, rs769258044, rs372180825, rs2543723430, rs369227537, rs794726906, rs1216905667, rs2543852101, rs2543825639, rs372981030, rs752623413, rs748555510, rs752989523, rs72547552, rs879253798, rs748309520, rs72547551, rs879253797, rs2543754551, rs1597661607, rs121918357, rs121918358, rs141659620, rs267607085, rs864622094, rs878854606, rs2543859245, rs982277188, rs552813383, rs2543849852, rs762795756, rs764791523, rs774774648, rs2543747294, rs2543766832, rs2543681640, rs2543765087, rs2543851938, rs2543672662, rs2543660604, rs562890289, rs747503698, rs1060503429, rs766155407, rs746053679, rs1060503425, rs768823392, rs772828460, rs912983346, rs568556987, rs748255454, rs138671904, rs775364547, rs768136171, rs1217391623, rs1555617559, rs369503365, rs768595656, rs1412575396, rs1373388852, rs1229749476, rs1567934754, rs1314660313, rs1597597437, rs1597665080, rs141644720, rs1567934181, rs2058358025, rs771256761, rs763126378, rs779055639, rs2058330715, rs770299071, rs752843742, rs1743896594, rs2152392855, rs2152400493, rs780810116, rs2152402048, rs2152403759, rs1179556029, rs1482442290, rs2152409901, rs2058569546, rs2152410293, rs2152411067, rs1463225651, rs2152412161	RCV004815326 RCV001647143 RCV001647142 RCV001331023 RCV001378304 RCV001382565 RCV001731132 RCV001785018 RCV001785019 RCV001785020 RCV001783796 RCV004764972 RCV001823323 RCV003617944 RCV002035895 RCV002048850 RCV001938406 RCV001884295 RCV001905081 RCV002007581 RCV001942142 RCV001951115 RCV001946569 RCV002052061 RCV002283905 RCV002289181 RCV000168257 RCV001852108 RCV002574321 RCV002571124 RCV000194085 RCV002872605 RCV000697812 RCV000500664 RCV000196592 RCV000200425 RCV000198892 RCV000236850 RCV000206709 RCV000235251 RCV000236261 RCV000236780 RCV003034792 RCV000007216 RCV000007217 RCV000007218 RCV000007221 RCV000007222 RCV000205117 RCV000232876 RCV003388209 RCV003388210 RCV003388211 RCV003388212 RCV001855011 RCV001391423 RCV000276883 RCV003313013 RCV003314272 RCV003331873 RCV003388959 RCV003447699 RCV003506846 RCV003618303 RCV004818487 RCV001865382 RCV000461092 RCV000460135 RCV000461245 RCV000472422 RCV000467232 RCV000465046 RCV000475192 RCV001391524 RCV003507282 RCV000554743 RCV000528473 RCV001391430 RCV000585677 RCV000989664 RCV000625997 RCV001380103 RCV000640984 RCV000640978 RCV000640981 RCV001855358 RCV000698570 RCV000786074 RCV000761358 RCV000800813 RCV001391422 RCV000989666 RCV000995648 RCV001860602 RCV001063502 RCV001060596 RCV001760064 RCV001220525 RCV001201827 RCV001221055 RCV001231276 RCV001235713 RCV001391421 RCV001391424 RCV001391426 RCV001391427 RCV001391428 RCV001391519 RCV001391520 RCV001391521 RCV001391522 RCV001391525 RCV001391526 RCV001391529 RCV001391530	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs1597665063	RCV000850201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic	rs768823392	RCV005869473	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic	rs768823392	RCV005869474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Memory impairment	Pathogenic	rs768823392	RCV000626836	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs369227537, rs797046003	RCV000508922 RCV000508824	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy	Pathogenic	rs764791523	RCV004786648	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyneuropathy	Pathogenic	rs1597597437	RCV000850308	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proximal spinal muscular atrophy	Likely pathogenic; Pathogenic	rs121918358	RCV000664258	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs121918358, rs141659620	RCV004814852 RCV004814853	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs768823392	RCV000626836	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorimotor neuropathy	Likely pathogenic	rs1597665063	RCV001003620	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic; Pathogenic	rs769258044, rs752623413, rs1597665063	RCV003329432 RCV001640295 RCV001003620	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraparesis	Pathogenic	rs768823392	RCV000626835	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Pathogenic	rs768823392	RCV000626836	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPG7-related disorder	Likely pathogenic; Pathogenic	rs369227537, rs794726906, rs752623413, rs748309520, rs121918358, rs141659620, rs774774648, rs760818649, rs747503698, rs768136171	RCV003416049 RCV003416067 RCV003401074 RCV003897433 RCV004752689 RCV004752690 RCV003409411 RCV003401491 RCV003902651 RCV003403411	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukoencephalopathy with vanishing white matter 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic nerve hypoplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic neuropathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAPLEGIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA TYPE 7	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Recessive	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic tetraparesis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	BEFREE	24368200		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	31571160, 31671855		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27009300, 27865176, 28888074, 28988742, 29288188, 29417201, 29633386, 29716633, 29797659, 30006739, 30120708, 30539476, 30651858, 30666425, 31282760, 31335716, 31428935, 31554741		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	25174587		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31640756		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	18366077		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	31028190		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29633386, 30006739, 30120708, 30666425, 31335716, 31554741		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	30006739, 30735463		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	30632631		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	30249594		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	1887245		★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	15173092		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	39177846	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	16516257, 17538635		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32447552	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	18583996, 29025766		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30809033		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	20938172		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30121627, 31339230, 31831007		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29158532		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21778422, 29690611		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12516090		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	29057857, 29915382, 30098094, 30497413, 31068484, 31854126, 32893728, 34433436	Associate	★☆☆☆☆ Found in Text Mining only
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION	Ataxia, spastic with optic atrophy and mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	28444220, 29451229, 30252181, 31779816		★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	BEFREE	26756429		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21778422, 29690611		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	32893728	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30347240, 31402496		★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypocalcemia	Hypocalcemia	BEFREE	15005845		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	BEFREE	14985266, 16534102, 17646629, 20108356, 22571692, 25398481, 26756429, 30252181		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25492700, 26195067, 28000533, 29288188, 30181581, 30659408, 30938714, 31624374, 31650026, 31677848		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	11264177		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	23908180		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11522659, 15240520, 19322012, 28789701, 30201920		★☆☆☆☆ Found in Text Mining only
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	BEFREE	27080226		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	31055613		★☆☆☆☆ Found in Text Mining only
Bone Marrow Neoplasms	Bone Marrow Neoplasms	BEFREE	30936262		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	31441962		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	28285316		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28193777, 28302023, 29061641		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11108243, 16179927, 19597490, 21389059, 29061641, 31739702		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	9413939	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	31772298		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29382784, 31028190		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11522659, 15240520, 19322012, 28789701, 30201920		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26081001, 28204981, 30670085, 30721445, 30841620		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20628030, 28272967, 28969098, 31686857		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	27080226, 28088790		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	19957088		★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	11457744, 23303387, 28265001, 29440406, 29617930, 31236583		★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	15173092		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	23065789, 23857099, 29482223, 30098094, 31068484	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	16534102		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	23065789, 32447552, 32893728	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebrovascular accident	Stroke	BEFREE	16021267		★☆☆☆☆ Found in Text Mining only
Cervical spinal cord atrophy	Cervical spinal cord atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29633386, 30006739, 30120708, 30666425, 31335716, 31554741		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	30249594		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	16101572, 21359593		★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	BEFREE	24954360		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31177287		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11264177, 27742064, 28715249, 29207115, 29769184, 30024314, 30458878, 30670085, 30938714, 31370892, 31432594		★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	24727571		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27080226, 28366766, 30410941, 8758933		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27609023	Associate	★☆☆☆☆ Found in Text Mining only
Complicated hereditary spastic paraplegia	Spastic paraplegia	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	22978668		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29423418		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	27164068		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27164068		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	27164068, 31044621	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	27164068		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	29038338, 29443792, 29499750, 29808007, 30072559, 30198955, 30463995, 30560413, 30666425, 30804212, 31055613, 31177852, 31219357, 31327064, 31355491, 31428935		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28320072		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	24727571	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	30255569		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29133527, 30183039, 30227815		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29133527, 30183039, 30227815		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23330547		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	25444722, 30006739, 30275435, 30735463, 31200358, 31219975, 31623476, 31754328		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG	26626314		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysarthria	Dysarthria	Pubtator	31068484	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysarthria	Dysarthria	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalopathies	Epileptic encephalopathy	BEFREE	30560413, 30893101		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29631630		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	31028190		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	28868758		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29351922		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	15173092		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32447552	Associate	★☆☆☆☆ Found in Text Mining only
Genitourinary Cancer	Genitourinary Cancer	BEFREE	14695181		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26155832, 28108463, 28302023, 28651374, 28754782, 29540359, 29666934, 29769444, 30201736, 30478409, 31466914, 31798595		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26155832, 28108463, 28302023, 28754782, 29540359, 29666934, 29769444, 30201736, 31466914, 31798595		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	28770269, 30502305, 31177287		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28128714, 30702011, 31005597		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32893728	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	15173092		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	25492700, 25583818, 27009301, 27145250, 27865176, 27910858, 28128714, 28272967, 28356156, 28366766, 29032736, 29556955, 29769134, 29769444, 29861325, 29909917, 29973238, 30075127, 30108584, 30410941, 30621018, 30632631, 30659408, 30715612, 30734529, 30760795, 30841880, 30842774, 30906625, 31005597, 31186046, 31221182, 31268375, 31414180, 31432594, 31484657, 31571160, 31628559, 31705854, 31754328, 31790761, 31814915		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	29769134		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	30988175		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	10408535, 10453730, 10480368, 11039578, 11222789, 11525886, 11839840, 12194386, 14623864, 14985266, 16534102, 17101804, 17420921, 17646629, 18200586, 20108356, 20186691, 20550563, 22266886, 22571692, 24141732, 31231294, 31745725, 9635427		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	11579422		★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	BEFREE	11839840		★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	30791947		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	27217339		★☆☆☆☆ Found in Text Mining only
Hereditary motor and sensory neuropathy with optic atrophy (disorder)	Hereditary Motor And Sensory Neuropathy With Optic Atrophy	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathy Type Ie	Hereditary sensory and autonomic neuropathy	Pubtator	31068484	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	30632631		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	16101572		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	12161540		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	21778422		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	31282760		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	12161540		★☆☆☆☆ Found in Text Mining only
HYPERPARATHYROIDISM, NEONATAL SEVERE	Hyperparathyroidism	BEFREE	7593455		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	9253358, 9661634		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism - autosomal dominant	Hypoparathyroidism	BEFREE	9253358, 9380434		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	22503787		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31194563		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	8840265		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	31186046		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24919573, 28088790, 30514403		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	9802601		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29351922		★☆☆☆☆ Found in Text Mining only
Lateral Sclerosis	Lateral Sclerosis	ORPHANET_DG	27123479		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19238016, 25583785, 27258611, 27907031, 28193774, 28708956, 28762313, 30042420, 30120708, 30275568, 30539529, 30632623, 30716352		★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	30791947		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25174587, 27865176, 29017060, 29080982, 29472720, 29515236, 29716633, 29797659, 30524966, 30539529, 30632631, 31547472		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	17876342		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	26506339	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25024626, 29133527, 29716964, 30078052, 30327605, 30659408, 31484657, 31681766, 9221800		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	21424122, 25092647, 28495613, 29244179, 30102401		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30952806, 31402496		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	30952806, 31402496		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30952806, 31402496		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30502305		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	30952806, 31402496		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	31355491		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	28888074, 29716633, 29797659, 30381966, 30539476		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28762313, 29032736, 30198955, 30300581, 30443597, 30500439, 30670085, 30680777, 30791947, 30841880, 31355491, 31429760, 31432594, 31554741		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	31648294		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	30652353		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	29118234, 29655961, 30652353, 31005597, 31428935, 31772298		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	29118234, 30652353, 31005597, 31772298		★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	20478903		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	30126755		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	17902184		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	30249594		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11108243, 16179927, 19597490, 21389059, 29061641, 31739702		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29631630		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	21424122, 29861325, 31041739		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26081001, 28204981, 30670085, 30721445, 30841620		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17278108, 20628030, 28272967, 28969098, 31686857		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29859625		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10480368, 11016624, 26799485, 28235763		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29849787		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31337787		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11522659, 15240520, 19322012, 28789701, 30201920		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12516090, 14695181, 15240520, 15496964, 16179927, 17278108, 19487277, 20428207, 22354001, 24667964, 24782509, 25427612, 25510272, 25583785, 25621840, 25800760, 26212611, 26759369, 26895243, 26961900, 26965523, 27080226, 27226436, 27329987, 27488725, 28035433, 28067900, 28071584, 28128714, 28143567, 28204981, 28235763, 28272967, 28543380, 28651374, 28660319, 28762313, 28771105, 28789701, 28958644, 28960810, 28971751, 28974121, 29024301, 29025771, 29038338, 29123516, 29207115, 29247824, 29288188, 29579146, 29655961, 29730057, 29769134, 29772559, 29808007, 29878913, 29895885, 29950117, 30030293, 30034945, 30108584, 30120708, 30121627, 30201736, 30257649, 30261221, 30275435, 30327605, 30347240, 30463849, 30543841, 30551196, 30560413, 30593467, 30621018, 30636882, 30638624, 30649750, 30653988, 30713539, 30772656, 30791947, 30853982, 30875561, 30936262, 30937265, 30992085, 31004624, 31142602, 31160157, 31160723, 31161552, 31176617, 31190844, 31219357, 31380838, 31383408, 31414180, 31511513, 31554741, 31628559, 31698614, 31730903, 31754328, 31815041, 8840265		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	30791947		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	31619091		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	30249594		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18949016, 20395199, 30853982		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MERRF Syndrome	MERRF Syndrome	BEFREE	27476418		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	30651858		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	21821919, 23330547, 31041739		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30227815		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	31758522		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	10480368, 27965395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24466038, 24727571, 34507444, 39978794	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	CLINVAR_DG	28812649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	24466038		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	37133535	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	39978794	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	22554690, 22571692, 22964162, 24731568, 26094131, 26260707, 26374131, 26626314, 26671083, 27084228, 27217339, 27260292, 28608987		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	12161540		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	23303387, 27863374, 28588060, 28604120, 28857616, 29105517, 30185037, 30730071, 31005597		★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	34433436	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	12060636		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19105833		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocarditis	Myocarditis	BEFREE	31257515		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12161540, 12516090, 16179927, 20628030, 20842059, 21424122, 21610146, 22595794, 24667963, 24667964, 24782509, 24863967, 24919573, 25092647, 25492700, 25583818, 25621840, 25661872, 25800760, 26195067, 26799485, 26965523, 27080226, 27145250, 27258611, 27803044, 28202953, 28235763, 28436934, 28546503, 29025766, 29061641, 29127433, 29245005, 29382784, 29433552, 29464090, 29568411, 29579146, 29618658, 29720380, 29730057, 29769444, 29772559, 29849787, 29861325, 29959057, 30103457, 30108584, 30121627, 30201736, 30327605, 30510550, 30617136, 30649750, 30651858, 30659408, 30721445, 30734529, 30735463, 30744691, 30814732, 30842774, 30886654, 30889382, 30984613, 31004624, 31114587, 31161552, 31337787, 31355491, 31512325, 31582530, 31610848, 31621900, 31754328, 31779709, 31804974		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	15173092		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20842059, 29207115, 30483473, 30617136, 30886654, 31398192		★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	30255569		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32893728, 9635427	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10480368		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	30703466		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	17876342		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30651858, 31741710		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG	26626314		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	16825189, 23330547, 27180240, 29690611, 30227815		★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	31068484	Associate	★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia Chronic Progressive External	Progressive external ophthalmoplegia	Pubtator	24727571	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	19268652		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic Atrophy	Optic atrophy	Pubtator	30252181, 31068484	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic Atrophy 1	Optic Atrophy	BEFREE	22964162		★☆☆☆☆ Found in Text Mining only
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12221644, 15173092, 28321811, 30549299		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20628030, 28272967, 28969098, 31686857		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29859625		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30121627, 31339230		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	30889382		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29025766		★☆☆☆☆ Found in Text Mining only
Papillon-Lefevre Disease	Papillon-Lefevre Disease	BEFREE	19364936, 31117107		★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	23065789, 32893728, 34507444	Associate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	CTD_human_DG	11549317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paraplegia	Paraplegia	Pubtator	23065789, 23857099, 24466038, 27217339, 27544499, 31854126, 9635427	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	7759551		★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	7593455		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27217339, 28726961		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27217339, 30537300	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	30252181, 34507444	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	29246844		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	29618658		★☆☆☆☆ Found in Text Mining only
Pendular Nystagmus	Pendular nystagmus	BEFREE	29246608		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	30782639		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30782639		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	26556829		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	23065789, 26556829	Associate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	31741710		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	32999401	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	20110422, 23585892, 24319203, 26961900, 29032733, 29171004, 30181581, 30198955, 30518999, 30551196, 30576834, 30695783, 30979721, 31092900, 31182121, 31754328		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	27009300, 27865176, 28888074, 28988742, 29417201, 29716633, 29797659, 30120708, 30539476, 30651858, 31282760, 31428935		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	31097020		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	31350326		★☆☆☆☆ Found in Text Mining only
Primary lateral sclerosis	Lateral Sclerosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Primary Lateral Sclerosis, Adult, 1	Lateral Sclerosis	ORPHANET_DG	27123479		★☆☆☆☆ Found in Text Mining only
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	BEFREE	24466038		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10480368, 11016624, 26799485, 28235763		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29423418		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	32893728	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	25800760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	30655107		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	1713910, 1887245		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	19105833		★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	23857099, 24727571, 26506339, 30098094, 30252181, 37578187, 39978794	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Ataxia	Spastic Ataxia	BEFREE	24727571, 26506339		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	Spastic Ataxia	BEFREE	27476418		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	11549317, 22571692, 9635427		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	CTD_human_DG	11549317		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	Spastic paraplegia	CLINVAR_DG	11222789, 14985266, 16534102, 18200586, 18563470, 18799786, 20186691, 21623769, 22571692, 22964162, 23065789, 23269439, 23733235, 23812641, 24466038, 24727571, 25034272, 25133958, 25681447, 26506339, 26626314, 26756429, 27123479, 27165006, 27790088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	Spastic paraplegia	UNIPROT_DG	16534102, 17646629, 20186691, 27217339, 9635427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	Spastic paraplegia	ORPHANET_DG	17646629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	Spastic paraplegia	BEFREE	18563470, 22022284, 30252181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	Spastic paraplegia	GENOMICS_ENGLAND_DG	22571692, 25034272, 25681447, 27604308, 9635427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	Spastic paraplegia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	14623864, 26506339, 26556829, 29057857, 30098094, 30252181, 30497413, 32447552, 34404843, 34433436, 34983064, 35331153, 36139378, 37120112, 37133535, 9635427	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Type 7	Spastic Paraplegia	ORPHANET_DG	17646629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia type 7	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Type 7	Spastic Paraplegia	BEFREE	18563470, 22022284, 22964162, 27164068, 27557734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Type 7	Spastic paraplegia	Pubtator	24466038, 27557734, 34509920	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	10480368, 11377972, 14623864, 14985266, 15358091, 16534102, 17101804, 17646629, 18200586, 19289403, 22022284, 22563492, 25398481, 26260707, 26506339, 26756429, 29451229, 30044948, 30497413		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	LHGDN	16534102, 17646629, 18200586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	CLINVAR_DG	16534102, 18563470, 18799786, 20186691, 21623769, 22571692, 23065789, 23269439, 23733235, 25681447, 26756429, 27957547, 28362824, 28832565, 29026558, 29057857, 9635427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 28	Spinocerebellar Ataxia	BEFREE	22964162, 30252181		★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia 28	Spinocerebellar ataxia	Pubtator	30252181	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	30252181	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	30410362		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27180240, 29351922		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29849787		★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	26506339	Associate	★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	1713910, 1887245		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	1713910, 1887245		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30655107		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	29196452		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	16682547, 29246610		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31337787		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31337787		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29183891, 29935762, 31804974		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28320072		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	2476064		★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia with growth hormone deficiency	Agammaglobulinemia With Growth Hormone Deficiency, X-Linked	BEFREE	22234701		★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	31231294		★☆☆☆☆ Found in Text Mining only