WASHC5 (WASH complex subunit 5)

Gene

• Entrez ID: 9897
• Gene name: WASH complex subunit 5
• Gene symbol: WASHC5
• Synonyms (NCBI Gene): KIAA0196, RTSC, RTSC1, SPG8
• Chromosome: 8
• Chromosome location: 8q24.13
• Summary: This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named fo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs72720524	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80338865	T>C	Pathogenic	Coding sequence variant, missense variant
rs80338866	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs80338867	C>A	Pathogenic	Coding sequence variant, missense variant
rs147434450	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs397515564	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs398123007	A>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs748167994	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs749056160	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs754463353	G>A	Pathogenic	Coding sequence variant, stop gained
rs765926045	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518000	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1362286755	G>A	Pathogenic	Stop gained, coding sequence variant
rs1462319941	G>A	Pathogenic	Stop gained, coding sequence variant
rs1554593899	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554593901	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1563627853	T>C	Likely-pathogenic	Splice acceptor variant
rs1563633906	->T	Pathogenic	Coding sequence variant, stop gained
rs1586362593	G>A	Likely-pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT727382	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727380	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727381	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727379	hsa-miR-181d-5p	HITS-CLIP	22473208

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001556	Process	Oocyte maturation	IEA
GO:0005515	Function	Protein binding	IPI	20923837, 23331060, 23676666, 24643499
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IDA	20923837
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	23676666
GO:0005769	Component	Early endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IEA
GO:0007032	Process	Endosome organization	IBA
GO:0007040	Process	Lysosome organization	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016197	Process	Endosomal transport	IMP	20923837
GO:0016197	Process	Endosomal transport	NAS	19922875
GO:0030041	Process	Actin filament polymerization	IBA
GO:0031503	Process	Protein-containing complex localization	IEA
GO:0031901	Component	Early endosome membrane	NAS	19922874
GO:0034315	Process	Regulation of Arp2/3 complex-mediated actin nucleation	NAS	19922875
GO:0040038	Process	Polar body extrusion after meiotic divisions	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043933	Process	Protein-containing complex organization	IEA
GO:0051125	Process	Regulation of actin nucleation	IBA
GO:0051125	Process	Regulation of actin nucleation	IEA
GO:0071203	Component	WASH complex	IBA
GO:0071203	Component	WASH complex	IDA	19922875
GO:0071203	Component	WASH complex	IEA
GO:0071203	Component	WASH complex	NAS	19922875
GO:0090306	Process	Meiotic spindle assembly	IEA
GO:0097494	Process	Regulation of vesicle size	IEA
GO:0140285	Process	Endosome fission	IBA

Other IDs

• MIM: 610657
• HGNC: 28984
• e!Ensembl: ENSG00000164961

Protein

• UniProt ID: Q12768
• Protein name: WASH complex subunit 5 (Strumpellin) (WASH complex subunit strumpellin)
• Protein function: Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10266	Strumpellin	23 → 1103	Hereditary spastic paraplegia protein strumpellin	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed ubiquitously. {ECO:0000269|PubMed:20833645}.
• Sequence:

  MLDFLAENNLCGQAILRIVSCGNAIIAELLRLSEFIPAVFRLKDRADQQKYGDIIFDFSY
  FKGPELWESKLDAKPELQDLDEEFRENNIEIVTRFYLAFQSVHKYIVDLNRYLDDLNEGV
  YIQQTLETVLLNEDGKQLLCEALYLYGVMLLVIDQKIEGEVRERMLVSYYRYSAARSSAD
  SNMDDICKLLRSTGYSSQPGAKRPSNYPESYFQRVPINESFISMVIGRLRSDDIYNQVSA
  YPLPEHRSTALANQAAMLYVILYFEPSILHTHQAKMREIVDKYFPDNWVISIYMGITVNL
  VDAWEPYKAAKTALNNTLDLSNVREQASRYATVSERVHAQVQQFLKEGYLREEMVLDNIP
  KLLNCLRDCNVAIRWLMLHTADSACDPNNKRLRQIKDQILTDSRYNPRILFQLLLDTAQF
  EFILKEMFKQMLSEKQTKWEHYKKEGSERMTELADVFSGVKPLTRVEKNENLQAWFREIS
  KQILSLNYDDSTAAGRKTVQLIQALEEVQEFHQLESNLQVCQFLADTRKFLHQMIRTINI
  KEEVLITMQIVGDLSFAWQLIDSFTSIMQESIRVNPSMVTKLRATFLKLASALDLPLLRI
  NQANSPDLLSVSQYYSGELVSYVRKVLQIIPESMFTSLLKIIKLQTHDIIEVPTRLDKDK
  LRDYAQLGPRYEVAKLTHAISIFTEGILMMKTTLVGIIKVDPKQLLEDGIRKELVKRVAF
  ALHRGLIFNPRAKPSELMPKLKELGATMDGFHRSFEYIQDYVNIYGLKIWQEEVSRIINY
  NVEQECNNFLRTKIQDWQSMYQSTHIPIPKFTPVDESVTFIGRLCREILRITDPKMTCHI
  DQLNTWYDMKTHQEVTSSRLFSEIQTTLGTFGLNGLDRLLCFMIVKELQNFLSMFQKIIL
  RDRTVQDTLKTLMNAVSPLKSIVANSNKIYFSAIAKTQKIWTAYLEAIMKVGQMQILRQQ
  IANELNYSCRFDSKHLAAALENLNKALLADIEAHYQDPSLPYPKEDNTLLYEITAYLEAA
  GIHNPLNKIYITTKRLPYFPIVNFLFLIAQLPKLQYNKNLGMVCRKPTDPVDWPPLVLGL
  LTLLKQFHSRYTEQFLALIGQFICSTVEQCTSQKIPEIPADVVGALLFLEDYVRYTKLPR
  RVAEAHVPNFIFDEFRTVL

• Sequence length: 1159

Pathways

KEGG:

Endocytosis

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
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs80338867	RCV001847561	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 8	Pathogenic; Likely pathogenic	rs1030054011, rs1815322920, rs377540152, rs953586472, rs80338867, rs80338866, rs80338865, rs758391206, rs2537306012, rs150749307, rs2537350339, rs2537313187, rs767855117, rs1060502725, rs1554593901, rs1554593899, rs1462319941, rs765926045, rs1563627853, rs397515564, rs1815998956, rs2130107479	RCV001313795 RCV001331908 RCV002014065 RCV001952450 RCV000001220 RCV000001221 RCV000001222 RCV002800511 RCV002862872 RCV003786571 RCV003791712 RCV003799869 RCV003886323 RCV001391386 RCV000555090 RCV000585718 RCV002233667 RCV002233608 RCV000691473 RCV001391387 RCV000055943 RCV001391388 RCV001391384	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lower limb spasticity	Likely pathogenic	rs1816782806	RCV001541904	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs767855117	RCV005936764	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ritscher-Schinzel syndrome	Pathogenic; Likely pathogenic	rs1030054011, rs377540152, rs953586472, rs80338867, rs80338866, rs758391206, rs2537306012, rs150749307, rs2537350339, rs2537313187, rs1060502725, rs1554593901, rs1554593899, rs1462319941, rs765926045, rs397515564	RCV001313795 RCV002014065 RCV001952450 RCV002227984 RCV001851527 RCV002800511 RCV002862872 RCV003786571 RCV003791712 RCV003799869 RCV002230093 RCV000555090 RCV001069360 RCV002233667 RCV002233608 RCV002232914	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ritscher-Schinzel syndrome 1	Likely pathogenic; Pathogenic	rs749859427, rs2537289969, rs2537390996, rs1554593901, rs1563627853, rs1586390087, rs398123007	RCV003142328 RCV003777333 RCV004526423 RCV001542471 RCV000691473 RCV004556081 RCV000077794	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WASHC5-related disorder	Likely pathogenic	rs398123007	RCV004751254	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia 47	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Incidental Discovery	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle weakness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA TYPE 8	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia, autosomal dominant	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spasticity	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY STRESS INCONTINENCE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
3C syndrome	3C syndrome	CLINVAR_DG	17160902, 24065355		★☆☆☆☆ Found in Text Mining only
3C syndrome	3C syndrome	BEFREE	24065355		★☆☆☆☆ Found in Text Mining only
3C syndrome	3C syndrome	ORPHANET_DG	24065355		★☆☆☆☆ Found in Text Mining only
3C syndrome	3C syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
3C syndrome	3C syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASCAT_DG	24931836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30778698	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	Pubtator	29768361	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	16143870	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrophy of the spinal cord	Atrophy of the spinal cord	BEFREE	16143870		★☆☆☆☆ Found in Text Mining only
Autosomal dominant spastic paraplegia type 8	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	14603436		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	30896870		★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19520795	Associate	★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic anus	Ectopic anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	BEFREE	24065355, 24916641		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	20833645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Frontotemporal dementia	GWASCAT_DG	24931836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	16143870, 17160902, 25454649, 26572744, 30061306		★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	BEFREE	11839840, 23085491, 23455931		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	20833645		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	26965651		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11564973		★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14603436, 18844214		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	20833645		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	20833645		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14603436		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20833645		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	20833645		★☆☆☆☆ Found in Text Mining only
Peroneal muscle atrophy	Peroneal muscle atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	20833645		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14603436, 18844214		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
RITSCHER-SCHINZEL SYNDROME 1	RITSCHER-SCHINZEL SYNDROME	GENOMICS_ENGLAND_DG	24065355, 24916641		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RITSCHER-SCHINZEL SYNDROME 1	RITSCHER-SCHINZEL SYNDROME	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	24065355, 24916641		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spastic paraplegia 8, autosomal dominant	Spastic paraplegia	CLINVAR_DG	17160902, 24065355		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 8, autosomal dominant	Spastic paraplegia	GENOMICS_ENGLAND_DG	17160902, 23455931, 24916641		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 8, autosomal dominant	Spastic paraplegia	UNIPROT_DG	17160902, 20833645, 23085491, 23455931, 23881105, 25454649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 8, autosomal dominant	Spastic paraplegia	ORPHANET_DG	17160902		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 8, autosomal dominant	Spastic paraplegia	BEFREE	26572744, 29768361, 30061306, 31814071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 8, autosomal dominant	Spastic paraplegia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	16143870, 20923837, 23085491, 30778698	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Type 8	Spastic paraplegia	Pubtator	29768361	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	17160902, 20833645, 20923837, 25454649, 26572744, 26967522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	30778698	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33902514	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only