ALDH18A1 (aldehyde dehydrogenase 18 family member A1)

Gene

• Entrez ID: 5832
• Gene name: Aldehyde dehydrogenase 18 family member A1
• Gene symbol: ALDH18A1
• Synonyms (NCBI Gene): ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B
• Chromosome: 10
• Chromosome location: 10q24.1
• Summary: This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduct

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434582	C>A,T	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs121434583	G>A	Pathogenic	Missense variant, coding sequence variant
rs150526956	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs374052426	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs537043237	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs556267618	C>T	Likely-pathogenic	Splice donor variant
rs587777858	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs748925635	C>T	Pathogenic	Coding sequence variant, missense variant
rs752669339	C>G	Pathogenic	Coding sequence variant, missense variant
rs758543218	G>A	Pathogenic	Coding sequence variant, stop gained
rs762271422	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs762742204	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs766264810	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs768323248	C>T	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs774047299	T>C,G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs786205614	T>C	Likely-pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant
rs863223315	C>T	Pathogenic	Splice donor variant
rs863224945	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs863225044	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs863225045	C>A,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs864321669	C>G	Pathogenic	Coding sequence variant, missense variant
rs864321670	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs869320690	A>G	Pathogenic	Coding sequence variant, missense variant
rs1057518541	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1194593234	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1462559161	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs1555262375	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555264243	C>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1566039159	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022930	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT031825	hsa-miR-16-5p	Proteomics	18668040
MIRT050486	hsa-miR-20a-5p	CLASH	23622248
MIRT037662	hsa-miR-744-5p	CLASH	23622248
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT645821	hsa-miR-4709-3p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT645821	hsa-miR-4709-3p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT776918	hsa-miR-1200	CLIP-seq
MIRT776919	hsa-miR-1238	CLIP-seq
MIRT776920	hsa-miR-1269	CLIP-seq
MIRT776921	hsa-miR-1269b	CLIP-seq
MIRT776922	hsa-miR-182	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT776924	hsa-miR-2114	CLIP-seq
MIRT776925	hsa-miR-3162-3p	CLIP-seq
MIRT776926	hsa-miR-3192	CLIP-seq
MIRT776927	hsa-miR-330-3p	CLIP-seq
MIRT776928	hsa-miR-335	CLIP-seq
MIRT776929	hsa-miR-3617	CLIP-seq
MIRT776930	hsa-miR-4324	CLIP-seq
MIRT776931	hsa-miR-4470	CLIP-seq
MIRT776932	hsa-miR-4529-3p	CLIP-seq
MIRT776933	hsa-miR-544b	CLIP-seq
MIRT776934	hsa-miR-629	CLIP-seq
MIRT776935	hsa-miR-641	CLIP-seq
MIRT776936	hsa-miR-642b	CLIP-seq
MIRT776937	hsa-miR-873	CLIP-seq
MIRT776920	hsa-miR-1269	CLIP-seq
MIRT776921	hsa-miR-1269b	CLIP-seq
MIRT776922	hsa-miR-182	CLIP-seq
MIRT776924	hsa-miR-2114	CLIP-seq
MIRT1929430	hsa-miR-4300	CLIP-seq
MIRT776931	hsa-miR-4470	CLIP-seq
MIRT1929431	hsa-miR-4494	CLIP-seq
MIRT776932	hsa-miR-4529-3p	CLIP-seq
MIRT1929432	hsa-miR-550b	CLIP-seq
MIRT1929433	hsa-miR-920	CLIP-seq
MIRT2170089	hsa-miR-3935	CLIP-seq
MIRT2170090	hsa-miR-4267	CLIP-seq
MIRT2170091	hsa-miR-4691-5p	CLIP-seq
MIRT2170092	hsa-miR-491-5p	CLIP-seq
MIRT2170093	hsa-miR-766	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT2472871	hsa-miR-1	CLIP-seq
MIRT2472872	hsa-miR-1184	CLIP-seq
MIRT2472873	hsa-miR-1286	CLIP-seq
MIRT2472874	hsa-miR-1299	CLIP-seq
MIRT2472875	hsa-miR-1301	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT2472876	hsa-miR-206	CLIP-seq
MIRT2472877	hsa-miR-2276	CLIP-seq
MIRT2472878	hsa-miR-3199	CLIP-seq
MIRT2472879	hsa-miR-325	CLIP-seq
MIRT2472880	hsa-miR-3673	CLIP-seq
MIRT2472881	hsa-miR-3690	CLIP-seq
MIRT2472882	hsa-miR-370	CLIP-seq
MIRT2472883	hsa-miR-3940-5p	CLIP-seq
MIRT2472884	hsa-miR-3974	CLIP-seq
MIRT2472885	hsa-miR-4254	CLIP-seq
MIRT2170090	hsa-miR-4267	CLIP-seq
MIRT2472886	hsa-miR-4453	CLIP-seq
MIRT2472887	hsa-miR-4477a	CLIP-seq
MIRT2472888	hsa-miR-4480	CLIP-seq
MIRT2472889	hsa-miR-4507	CLIP-seq
MIRT2472890	hsa-miR-4538	CLIP-seq
MIRT2472891	hsa-miR-4652-5p	CLIP-seq
MIRT2472892	hsa-miR-4660	CLIP-seq
MIRT2472893	hsa-miR-4711-5p	CLIP-seq
MIRT2472894	hsa-miR-4716-3p	CLIP-seq
MIRT2472895	hsa-miR-4719	CLIP-seq
MIRT2472896	hsa-miR-4722-5p	CLIP-seq
MIRT2472897	hsa-miR-4738-3p	CLIP-seq
MIRT2472898	hsa-miR-4775	CLIP-seq
MIRT2472899	hsa-miR-5047	CLIP-seq
MIRT2472900	hsa-miR-613	CLIP-seq
MIRT2472901	hsa-miR-628-3p	CLIP-seq
MIRT2472902	hsa-miR-760	CLIP-seq
MIRT2472903	hsa-miR-875-3p	CLIP-seq
MIRT2472871	hsa-miR-1	CLIP-seq
MIRT2472872	hsa-miR-1184	CLIP-seq
MIRT2472873	hsa-miR-1286	CLIP-seq
MIRT2472874	hsa-miR-1299	CLIP-seq
MIRT2472875	hsa-miR-1301	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT2472876	hsa-miR-206	CLIP-seq
MIRT2674895	hsa-miR-224	CLIP-seq
MIRT2472877	hsa-miR-2276	CLIP-seq
MIRT2472878	hsa-miR-3199	CLIP-seq
MIRT2472879	hsa-miR-325	CLIP-seq
MIRT2472880	hsa-miR-3673	CLIP-seq
MIRT2472881	hsa-miR-3690	CLIP-seq
MIRT2472882	hsa-miR-370	CLIP-seq
MIRT2472883	hsa-miR-3940-5p	CLIP-seq
MIRT2472885	hsa-miR-4254	CLIP-seq
MIRT2170090	hsa-miR-4267	CLIP-seq
MIRT2472886	hsa-miR-4453	CLIP-seq
MIRT2472887	hsa-miR-4477a	CLIP-seq
MIRT2472888	hsa-miR-4480	CLIP-seq
MIRT2472889	hsa-miR-4507	CLIP-seq
MIRT2472890	hsa-miR-4538	CLIP-seq
MIRT2472891	hsa-miR-4652-5p	CLIP-seq
MIRT2472892	hsa-miR-4660	CLIP-seq
MIRT2472893	hsa-miR-4711-5p	CLIP-seq
MIRT2472894	hsa-miR-4716-3p	CLIP-seq
MIRT2472895	hsa-miR-4719	CLIP-seq
MIRT2472896	hsa-miR-4722-5p	CLIP-seq
MIRT2472897	hsa-miR-4738-3p	CLIP-seq
MIRT2472898	hsa-miR-4775	CLIP-seq
MIRT2472899	hsa-miR-5047	CLIP-seq
MIRT2472900	hsa-miR-613	CLIP-seq
MIRT2472901	hsa-miR-628-3p	CLIP-seq
MIRT2472902	hsa-miR-760	CLIP-seq
MIRT2472903	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003824	Function	Catalytic activity	IEA
GO:0004349	Function	Glutamate 5-kinase activity	IDA	11092761
GO:0004349	Function	Glutamate 5-kinase activity	IEA
GO:0004349	Function	Glutamate 5-kinase activity	IMP	26297558
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IBA
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IDA	11092761
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IEA
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IMP	26297558
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	26297558, 26320891
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IDA	32770108
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006536	Process	Glutamate metabolic process	IMP	11092761
GO:0006592	Process	Ornithine biosynthetic process	IMP	11092761, 26297558
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009266	Process	Response to temperature stimulus	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019240	Process	Citrulline biosynthetic process	IMP	11092761, 26297558
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0042802	Function	Identical protein binding	IDA	26297558
GO:0055129	Process	L-proline biosynthetic process	IEA
GO:0055129	Process	L-proline biosynthetic process	IMP	11092761, 26297558
GO:0055129	Process	L-proline biosynthetic process	TAS	8761662

Other IDs

• MIM: 138250
• HGNC: 9722
• e!Ensembl: ENSG00000059573

Protein

• UniProt ID: P54886
• Protein name: Delta-1-pyrroline-5-carboxylate synthase (P5CS) (Aldehyde dehydrogenase family 18 member A1) [Includes: Glutamate 5-kinase (GK) (EC 2.7.2.11) (Gamma-glutamyl kinase); Gamma-glutamyl phosphate reductase (GPR) (EC 1.2.1.41) (Glutamate-5-semialdehyde dehydro
• Protein function: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. {ECO:0000269|PubMed:10037775, ECO:0000269|PubMed:11092761, ECO:0000269|PubMed:26297558, ECO:0000269|
• PDB: 2H5G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00696	AA_kinase	71 → 329	Amino acid kinase family	Family
  PF00171	Aldedh	350 → 662	Aldehyde dehydrogenase family	Family

• Sequence:

  MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKS
  FAHRSELKHAKRIVVKLGSAVVTRGDECGLALGRLASIVEQVSVLQNQGREMMLVTSGAV
  AFGKQRLRHEILLSQSVRQALHSGQNQLKEMAIPVLEARACAAAGQSGLMALYEAMFTQY
  SICAAQILVTNLDFHDEQKRRNLNGTLHELLRMNIVPIVNTNDAVVPPAEPNSDLQGVNV
  ISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDDAKLIDIFYPGDQQSVTFGTK
  SRVGMGGMEAKVKAALWALQGGTSVVIANGTHPKVSGHVITDIVEGKKVGTFFSEVKPAG
  PTVEQQGEMARSGGRMLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAA
  PLLKRLSLSTSKLNSLAIGLRQIAASSQDSVGRVLRRTRIAKNLELEQVTVPIGVLLVIF
  ESRPDCLPQVAALAIASGNGLLLKGGKEAAHSNRILHLLTQEALSIHGVKEAVQLVNTRE
  EVEDLCRLDKMIDLIIPRGSSQLVRDIQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRL
  VRDSKCEYPAACNALETLLIHRDLLRTPLFDQIIDMLRVEQVKIHAGPKFASYLTFSPSE
  VKSLRTEYGDLELCIEVVDNVQDAIDHIHKYGSSHTDVIVTEDENTAEFFLQHVDSACVF
  WNASTRFSDGYRFGLGAEVGISTSRIHARGPVGLEGLLTTKWLLRGKDHVVSDFSEHGSL
  KYLHENLPIPQRNTN

• Sequence length: 795

Pathways

KEGG:

Arginine and proline metabolism
Metabolic pathways
Biosynthesis of amino acids

Reactome:

Glutamate and glutamine metabolism

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
ALDH18A1 deficiency	Pathogenic	rs864321670	RCV001095737	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALDH18A1-related de Barsy syndrome	Pathogenic; Likely pathogenic	rs587777858, rs2139621988, rs863225044, rs863225045, rs2526899878, rs2526671188, rs121434583, rs863223315, rs1555262375, rs1555264243, rs1194593234, rs556267618, rs748925635	RCV000144700 RCV002249243 RCV003883142 RCV000856780 RCV005255754 RCV003643499 RCV000017466 RCV000022579 RCV000545862 RCV000677649 RCV000791324 RCV000853365 RCV000995484	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALDH18A1-related disorder	Likely pathogenic; Pathogenic	rs751181507, rs863225045, rs556267618	RCV005250265 RCV004530202 RCV002279963	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant spastic paraplegia type 9	Pathogenic; Likely pathogenic	rs145289559, rs1202802893, rs2139593958, rs1292403369, rs1055913716, rs2526897392, rs2526696945, rs751181507, rs752669339, rs864321670, rs863224945, rs863225045, rs1325257479, rs2526727709, rs2526900150, rs367578361, rs2526811415, rs2526726489, rs2526729059, rs758543218, rs1555262375, rs556267618, rs748925635	RCV003786044 RCV003771757 RCV003773210 RCV003774999 RCV003777006 RCV003777008 RCV003777016 RCV003777028 RCV003765291 RCV003765292 RCV003765293 RCV003765295 RCV005227831 RCV003789880 RCV003792221 RCV003799951 RCV003797250 RCV003802067 RCV003810110 RCV003766465 RCV003766981 RCV003768530 RCV005225189	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive complex spastic paraplegia type 9B	Likely pathogenic; Pathogenic	rs2097844381, rs762154638, rs775201668, rs752669339, rs869320690, rs863225044, rs1325257479, rs2526899878	RCV001808061 RCV001808896 RCV005412285 RCV000200955 RCV000200952 RCV003883142 RCV005254726 RCV005255754	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis laxa, autosomal dominant 3	Pathogenic; Likely pathogenic	rs145289559, rs1202802893, rs2139593958, rs1292403369, rs1055913716, rs2526897392, rs2526696945, rs751181507, rs752669339, rs864321670, rs863224945, rs863225044, rs863225045, rs1325257479, rs2526899878, rs2526727709, rs2526900150, rs367578361, rs2526811415, rs2526726489, rs2526729059, rs758543218, rs1555262375, rs556267618, rs748925635	RCV003786044 RCV003771757 RCV003773210 RCV003774999 RCV003777006 RCV003777008 RCV003777016 RCV003777028 RCV001198042 RCV003765292 RCV003765293 RCV000201215 RCV000201213 RCV000201214 RCV005227831 RCV003142512 RCV003789880 RCV003792221 RCV003799951 RCV003797250 RCV003802067 RCV003810110 RCV003766465 RCV003766981 RCV003768530 RCV005225189	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
de Barsy syndrome	Pathogenic; Likely pathogenic	rs145289559, rs1202802893, rs2139593958, rs1292403369, rs1055913716, rs2526897392, rs2526696945, rs751181507, rs752669339, rs864321670, rs863224945, rs863225045, rs1325257479, rs2526727709, rs2526900150, rs367578361, rs2526811415, rs2526726489, rs2526729059, rs758543218, rs1555262375, rs556267618, rs748925635	RCV003786044 RCV003771757 RCV003773210 RCV003774999 RCV003777006 RCV003777008 RCV003777016 RCV003777028 RCV003765291 RCV003765292 RCV003765293 RCV003765295 RCV005227831 RCV003789880 RCV003792221 RCV003799951 RCV003797250 RCV003802067 RCV003810110 RCV003766465 RCV003766981 RCV003768530 RCV005225189	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs775201668	RCV001848313	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 9A	Likely pathogenic; Pathogenic	rs864321669, rs864321670, rs863224945, rs766264810, rs863225044, rs863225045, rs2526899878, rs2139621272	RCV000200956 RCV000200959 RCV000200954 RCV000200958 RCV003883142 RCV004798805 RCV005255754 RCV001391612	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs770249022	RCV001260898	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
P5CS deficiency	Likely pathogenic	rs864321669	RCV003389243	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1055913716	RCV005928577	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT COMPLEX SPASTIC PARAPLEGIA TYPE 9B	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CUTIS LAXA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9B	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ACCESSORY SKIN TAG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL DOMINANT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Recessive	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL BENIGN PEMPHIGUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia 5A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS FOLLICULARIS DARIER-WHITE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTHMUND-THOMSON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA STANESCU TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepiphyseal dysplasia, Stanescu type	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23963297		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	23963297, 32798076	Associate	★☆☆☆☆ Found in Text Mining only
ALDH18A1-related De Barsy syndrome	De Barsy Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alzheimer Disease	Alzheimer disease	Pubtator	17000046	Associate	★☆☆☆☆ Found in Text Mining only
Anarthria speech disorder	Anarthria Speech Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arcus Senilis	Arcus Senilis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy of the spinal cord	Atrophy of the spinal cord	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant cutis laxa	Cutis Laxa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant spastic paraplegia type 9A	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant spastic paraplegia type 9B	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive spastic paraplegia type 9B	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bowel diverticulosis	Bowel diverticulosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	11092761, 18478038		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	BEFREE	15517380		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26026163	Associate	★☆☆☆☆ Found in Text Mining only
Complicated hereditary spastic paraplegia	Spastic paraplegia	BEFREE	29915212		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	11092761		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	21739576, 24913064, 26829900, 29754261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa	Cutis laxa	Pubtator	26320891, 32798076, 36067040	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa	Cutis Laxa	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa	Cutis Laxa	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa Autosomal Recessive Type I	Cutis laxa	Pubtator	26320891	Associate	★☆☆☆☆ Found in Text Mining only
Cutis Laxa, Autosomal Dominant	Cutis laxa	ORPHANET_DG	26320891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Dominant	Cutis laxa	BEFREE	28228640		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Dominant	Cutis laxa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL DOMINANT 3	Cutis laxa	GENOMICS_ENGLAND_DG	18388779, 22829427, 24913064, 26297558, 26320891, 29903433		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CUTIS LAXA, AUTOSOMAL DOMINANT 3	Cutis laxa	CLINVAR_DG	26026163, 26297558		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CUTIS LAXA, AUTOSOMAL DOMINANT 3	Cutis laxa	UNIPROT_DG	26320891		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis Laxa, Autosomal Recessive, Type IIB	Cutis Laxa	BEFREE	26320891, 28228640		★☆☆☆☆ Found in Text Mining only
De Barsy syndrome	De Barsy Syndrome	UNIPROT_DG	11092761, 18478038, 22170564, 24767728		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
De Barsy syndrome	De Barsy Syndrome	GENOMICS_ENGLAND_DG	18388779, 21739576, 22829427, 24767728, 24816252, 24913064, 26297558, 29903433		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
De Barsy syndrome	De Barsy Syndrome	ORPHANET_DG	21739576		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
De Barsy syndrome	De Barsy Syndrome	CLINVAR_DG	26026163, 26297558		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
De Barsy syndrome	De barsy syndrome	Pubtator	26320891	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
De Barsy syndrome	De Barsy Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32221810, 32798076, 36067040	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	BEFREE	23963297		★☆☆☆☆ Found in Text Mining only
Dyskinesia Familial with Facial Myokymia	Dyskinesia, familial, with facial myokymia	Pubtator	26026163	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30367044		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal Dystonia	Focal dystonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	29915212, 30029526, 30853934		★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	BEFREE	11839840		★☆☆☆☆ Found in Text Mining only
HHH syndrome	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	BEFREE	30853934		★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperprolinemia type 2	Hyperprolinemia	Pubtator	26026163, 33573605	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29915212		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32798076	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	31726117		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34970420	Associate	★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26082174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	20091669		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24767728		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	32798076	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34970420	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34680942	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26082174		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	12567407		★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	18478038, 26026163		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32798076	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	32221810, 32798076, 36067040	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	24767728		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	24767728		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	24767728		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	32065947	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	31402623		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)	Spastic paraplegia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)	Spastic paraplegia	ORPHANET_DG	26026163, 26297558		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)	Spastic paraplegia	UNIPROT_DG	26026163, 26297558		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)	Spastic paraplegia	CLINVAR_DG	26026163, 26297558		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)	Spastic paraplegia	GENOMICS_ENGLAND_DG	26297558, 26320891, 29903433		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)	Spastic paraplegia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	26026163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	26026163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	26297558, 29903433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE	Spastic Paraplegia	BEFREE	31402623		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	26026163, 32798076, 34715294	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia type 5A, recessive	Spastic paraplegia	BEFREE	29754261		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	29754261, 31402623		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	BEFREE	18478038, 26026163		★☆☆☆☆ Found in Text Mining only
Subcapsular cataract	Subcapsular cataract	BEFREE	11092761		★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	32798076	Associate	★☆☆☆☆ Found in Text Mining only
Wrinkly skin syndrome	Wrinkly skin syndrome	Pubtator	26320891	Associate	★☆☆☆☆ Found in Text Mining only