Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6708
Gene name	Spectrin alpha, erythrocytic 1
Gene symbol	SPTA1
Synonyms (NCBI Gene)	EL2HPPHS3SPH3SPTA
Chromosome	1
Chromosome location	1q23.1
Summary	This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The enco

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SNP ID	Visualize variation	Clinical significance	Consequence
rs857716	C>A,G,T	Likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs857725	T>A,C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs2022057	G>A,T	Likely-benign, benign, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs3737515	G>A,C	Likely-benign, benign-likely-benign, likely-pathogenic	Coding sequence variant, synonymous variant, intron variant, genic downstream transcript variant, missense variant
rs7418956	G>A,T	Pathogenic, likely-benign, benign	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs28525570	G>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs35948326	G>T	Pathogenic, benign, benign-likely-benign, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs41273519	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, missense variant, genic downstream transcript variant
rs116297260	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs121918634	A>C,G	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918635	T>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918636	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918637	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918638	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918639	G>A	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121918640	G>A,T	Pathogenic	Synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs121918641	C>A,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918642	G>A,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918643	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918644	T>C	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs138055271	T>C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs142775522	T>G	Likely-pathogenic, uncertain-significance, likely-benign, benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs145054175	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs148912436	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, non coding transcript variant
rs377659326	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs752114200	C>G,T	Likely-pathogenic	Coding sequence variant, downstream transcript variant, missense variant, synonymous variant, genic downstream transcript variant
rs754614154	T>C,G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs757147440	A>C,G	Pathogenic	Intron variant
rs757679761	->AAC	Pathogenic, likely-pathogenic	Inframe insertion, coding sequence variant, non coding transcript variant
rs774632615	C>T	Likely-pathogenic	Splice donor variant
rs863223305	C>T	Pathogenic	Splice acceptor variant
rs886041244	T>A,C	Pathogenic	Stop gained, non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1035389616	C>T	Pathogenic	Splice donor variant
rs1064795113	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1131691810	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1394141324	G>A	Pathogenic	Coding sequence variant, downstream transcript variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs1462060431	C>A,G	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1553231217	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553232007	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant
rs1553234309	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557961718	C>T	Pathogenic	Intron variant
rs1571436535	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1571530070	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant

189

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022113	hsa-miR-124-3p	Microarray	18668037
MIRT610630	hsa-miR-8485	HITS-CLIP	22927820
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	22927820
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	22927820
MIRT610630	hsa-miR-8485	HITS-CLIP	23313552
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23313552
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23313552
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT646059	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT646058	hsa-miR-4801	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT663119	hsa-miR-618	HITS-CLIP	23824327
MIRT663118	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT663118	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT663117	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT663116	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT663115	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT663114	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT663113	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT663112	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT646059	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT646058	hsa-miR-4801	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	27418678
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	27418678
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	27418678
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	27418678
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	27418678
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	27418678
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	27418678
MIRT646059	hsa-miR-4731-3p	HITS-CLIP	27418678
MIRT646059	hsa-miR-4731-3p	HITS-CLIP	27418678
MIRT646058	hsa-miR-4801	HITS-CLIP	27418678
MIRT646058	hsa-miR-4801	HITS-CLIP	27418678
MIRT610630	hsa-miR-8485	HITS-CLIP	27418678
MIRT610630	hsa-miR-8485	HITS-CLIP	27418678
MIRT610630	hsa-miR-8485	HITS-CLIP	27418678
MIRT610630	hsa-miR-8485	HITS-CLIP	27418678
MIRT610630	hsa-miR-8485	HITS-CLIP	22927820
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	22927820
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	22927820
MIRT610630	hsa-miR-8485	HITS-CLIP	23313552
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23313552
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23313552
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT646059	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT646058	hsa-miR-4801	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT663119	hsa-miR-618	HITS-CLIP	23824327
MIRT663118	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT663118	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT663117	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT663116	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT663115	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT663114	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT663113	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT663112	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT646059	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT646058	hsa-miR-4801	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT1386623	hsa-miR-150	CLIP-seq
MIRT1386624	hsa-miR-4713-5p	CLIP-seq
MIRT1386625	hsa-miR-532-3p	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002260	Process	Lymphocyte homeostasis	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	1634521
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	9593709, 12820899, 20197550, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005938	Component	Cell cortex	IEA
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IEA
GO:0007009	Process	Plasma membrane organization	IEA
GO:0007015	Process	Actin filament organization	TAS	1634521
GO:0008091	Component	Spectrin	IEA
GO:0008091	Component	Spectrin	TAS	1634521
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	TAS	10950304
GO:0014731	Component	Spectrin-associated cytoskeleton	IDA	379653
GO:0014731	Component	Spectrin-associated cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	10950304
GO:0016020	Component	Membrane	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030054	Component	Cell junction	IBA
GO:0030097	Process	Hemopoiesis	IEA
GO:0030424	Component	Axon	IEA
GO:0030863	Component	Cortical cytoskeleton	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0032437	Component	Cuticular plate	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042995	Component	Cell projection	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	TAS	1634521
GO:0051693	Process	Actin filament capping	IEA

MIM	HGNC	e!Ensembl
182860	11272	ENSG00000163554

P02549

Protein name

Spectrin alpha chain, erythrocytic 1 (Erythroid alpha-spectrin)

Protein function

Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.

PDB

1OWA , 3LBX , 5J4O

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00435	Spectrin	53 → 156	Spectrin repeat	Domain
PF00435	Spectrin	158 → 262	Spectrin repeat	Domain
PF00435	Spectrin	264 → 368	Spectrin repeat	Domain
PF00435	Spectrin	370 → 474	Spectrin repeat	Domain
PF00435	Spectrin	476 → 580	Spectrin repeat	Domain
PF00435	Spectrin	582 → 685	Spectrin repeat	Domain
PF00435	Spectrin	687 → 791	Spectrin repeat	Domain
PF00435	Spectrin	793 → 897	Spectrin repeat	Domain
PF00435	Spectrin	899 → 979	Spectrin repeat	Domain
PF00018	SH3_1	983 → 1028	SH3 domain	Domain
PF00435	Spectrin	1082 → 1181	Spectrin repeat	Domain
PF00435	Spectrin	1183 → 1287	Spectrin repeat	Domain
PF00435	Spectrin	1289 → 1393	Spectrin repeat	Domain
PF00435	Spectrin	1395 → 1498	Spectrin repeat	Domain
PF00435	Spectrin	1500 → 1605	Spectrin repeat	Domain
PF00435	Spectrin	1607 → 1711	Spectrin repeat	Domain
PF00435	Spectrin	1713 → 1817	Spectrin repeat	Domain
PF00435	Spectrin	1819 → 1926	Spectrin repeat	Domain
PF00435	Spectrin	1928 → 2033	Spectrin repeat	Domain
PF00435	Spectrin	2043 → 2147	Spectrin repeat	Domain
PF00435	Spectrin	2157 → 2258	Spectrin repeat	Domain
PF08726	EFhand_Ca_insen	2350 → 2418	Ca2+ insensitive EF hand	Domain

Sequence

MEQFPKETVVESSGPKVLETAEEIQERRQEVLTRYQSFKERVAERGQKLEDSYHLQVFKR
DADDLGKWIMEKVNILTDKSYEDPTNIQGKYQKHQSLEAEVQTKSRLMSELEKTREERFT
MGHSAHEETKAHIEELRHLWDLLLELTLEKGDQLLRALKFQQYVQECADILEWIGDKEAI
ATSVELGEDWERTEVLHKKFEDFQVELVAKEGRVVEVNQYANECAEENHPDLPLIQSKQN
EVNAAWERLRGLALQRQKALSNAANLQRFKRDVTEAIQWIKEKEPVLTSEDYGKDLVASE
GLFHSHKGLERNLAVMSDKVKELCAKAEKLTLSHPSDAPQIQEMKEDLVSSWEHIRALAT
SRYEKLQATYWYHRFSSDFDELSGWMNEKTAAINADELPTDVAGGEVLLDRHQQHKHEID
SYDDRFQSADETGQDLVNANHEASDEVREKMEILDNNWTALLELWDERHRQYEQCLDFHL
FYRDSEQVDSWMSRQEAFLENEDLGNSLGSAEALLQKHEDFEEAFTAQEEKIITVDKTAT
KLIGDDHYDSENIKAIRDGLLARRDALREKAATRRRLLKESLLLQKLYEDSDDLKNWINK
KKKLADDEDYKDIQNLKSRVQKQQVFEKELAVNKTQLENIQKTGQEMIEGGHYASDNVTT
RLSEVASLWEELLEATKQKGTQLHEANQQLQFENNAEDLQRWLEDVEWQVTSEDYGKGLA
EVQNRLRKHGLLESAVAARQDQVDILTDLAAYFEEIGHPDSKDIRARQESLVCRFEALKE
PLATRKKKLLDLLHLQLICRDTEDEEAWIQETEPSATSTYLGKDLIASKKLLNRHRVILE
NIASHEPRIQEITERGNKMVEEGHFAAEDVASRVKSLNQNMESLRARAARRQNDLEANVQ
FQQYLADLHEAETWIREKEPIVDNTNYGADEEAAGALLKKHEAFLLDLNSFGDSMKALRN
QANACQQQQAAPVEGVAGEQRVMALYDFQARSPREVTMKKGDVLTLLSSINKDWWKVEAA
DHQGIVPAVYVRRLAHDEFPMLPQRRREEPGNITQRQEQIENQYRSLLDRAEERRRRLLQ
RYNEFLLAYEAGDMLEWIQEKKAENTGVELDDVWELQKKFDEFQKDLNTNEPRLRDINKV
ADDLLFEGLLTPEGAQIRQELNSRWGSLQRLADEQRQLLGSAHAVEVFHREADDTKEQIE
KKCQALSAADPGSDLFSVQALQRRHEGFERDLVPLGDKVTILGETAERLSESHPDATEDL
QRQKMELNEAWEDLQGRTKDRKESLNEAQKFYLFLSKARDLQNWISSIGGMVSSQELAED
LTGIEILLERHQEHRADMEAEAPTFQALEDFSAELIDSGHHASPEIEKKLQAVKLERDDL
EKAWEKRKKILDQCLELQMFQGNCDQVESWMVARENSLRSDDKSSLDSLEALMKKRDDLD
KAITAQEGKITDLEHFAESLIADEHYAKEEIATRLQRVLDRWKALKAQLIDERTKLGDYA
NLKQFYRDLEELEEWISEMLPTACDESYKDATNIQRKYLKHQTFAHEVDGRSEQVHGVIN
LGNSLIECSACDGNEEAMKEQLEQLKEHWDHLLERTNDKGKKLNEASRQQRFNTSIRDFE
FWLSEAETLLAMKDQARDLASAGNLLKKHQLLEREMLAREDALKDLNTLAEDLLSSGTFN
VDQIVKKKDNVNKRFLNVQELAAAHHEKLKEAYALFQFFQDLDDEESWIEEKLIRVSSQD
YGRDLQGVQNLLKKHKRLEGELVAHEPAIQNVLDMAEKLKDKAAVGQEEIQLRLAQFVEH
WEKLKELAKARGLKLEESLEYLQFMQNAEEEEAWINEKNALAVRGDCGDTLAATQSLLMK
HEALENDFAVHETRVQNVCAQGEDILNKVLQEESQNKEISSKIEALNEKTPSLAKAIAAW
KLQLEDDYAFQEFNWKADVVEAWIADKETSLKTNGNGADLGDFLTLLAKQDTLDASLQSF
QQERLPEITDLKDKLISAQHNQSKAIEERYAALLKRWEQLLEASAVHRQKLLEKQLPLQK
AEDLFVEFAHKASALNNWCEKMEENLSEPVHCVSLNEIRQLQKDHEDFLASLARAQADFK
CLLELDQQIKALGVPSSPYTWLTVEVLERTWKHLSDIIEEREQELQKEEARQVKNFEMCQ
EFEQNASTFLQWILETRAYFLDGSLLKETGTLESQLEANKRKQKEIQAMKRQLTKIVDLG
DNLEDALILDIKYSTIGLAQQWDQLYQLGLRMQHNLEQQIQAKDIKGVSEETLKEFSTIY
KHFDENLTGRLTHKEFRSCLRGLNYYLPMVEEDEHEPKFEKFLDAVDPGRKGYVSLEDYT
AFLIDKESENIKSSDEIENAFQALAEGKSYITKEDMKQALTPEQVSFCATHMQQYMDPRG
RSHLSGYDYVGFTNSYFGN

Sequence length

2419

Interactions

View interactions

	Reactome
			NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade COPI-mediated anterograde transport

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)

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of blood and blood-forming tissues	Likely pathogenic	rs773168610	RCV001814566	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia	Likely pathogenic	rs774632615	RCV001003796	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Elliptocytosis 2	Likely pathogenic; Pathogenic	rs1649424538, rs1652590413, rs1651716612, rs121918634, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305, rs1394141324, rs1035389616, rs751026146, rs200830867	RCV001332233 RCV001332228 RCV001843829 RCV000013697 RCV000013703 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hemolytic anemia	Likely pathogenic; Pathogenic	rs1462060431, rs1553231217	RCV000655916 RCV000655921	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemolytic anemia	Likely pathogenic; Pathogenic	rs1571436535, rs2022057	RCV001003795 RCV001003797	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spherocytosis	Likely pathogenic; Pathogenic	rs200830867, rs779537034	RCV001449698 RCV001290767	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spherocytosis type 3	Pathogenic; Likely pathogenic	rs779174182, rs762088983, rs755630903, rs2101942740, rs2525254041, rs2525391420, rs2525027053, rs2525200185, rs121918641, rs754614154, rs2526221510, rs2526289187, rs1553234309, rs1553232007, rs1394141324 View all (5 more)	RCV001336015 RCV002250762 RCV004789641 RCV002291000 RCV002291026 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Likely pathogenic	rs2101741276	RCV005863448	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lysinuric protein intolerance	Likely pathogenic; Pathogenic	rs749754226	RCV005863451	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prenatal anemia	Likely pathogenic; Pathogenic	rs121918641	RCV000787368	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyropoikilocytosis, hereditary	Pathogenic; Likely pathogenic	rs121918637, rs121918642, rs121918641, rs757147440, rs1557961718, rs2526221510, rs2526289187, rs1394141324, rs752114200, rs1035389616, rs1571530070, rs200830867	RCV000013702 RCV000013709 RCV000013711 RCV000013713 RCV000013721 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spherocytosis	Likely pathogenic; Pathogenic	rs121918634, rs2525391483	RCV004798726 RCV003582174	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPTA1-related disorder	Likely pathogenic; Pathogenic	rs2101900643, rs373695294, rs1652094925, rs121918642, rs121918641, rs2525071082, rs936665671, rs2525200720, rs1653872984, rs758378706, rs774632615, rs200830867	RCV004550276 RCV004738326 RCV004736646 RCV003335031 RCV004737149 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ELLIPTOCYTOSIS, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spherocytosis type 2	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual developmental disorder, X-linked 111	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	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	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, HEREDITARY, 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spherocytosis, Recessive	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, TYPE 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (85)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acromegaly	Acromegaly	Pubtator	40415137	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32345668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	2568862	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia	Anemia	BEFREE	28090778		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia Hemolytic	Hemolytic anemia	Pubtator	35650129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	37697358	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	19650141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	LHGDN	18815189, 19008453		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic, Congenital	Anemia	BEFREE	29936674		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic, Congenital	Anemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic, Congenital	Anemia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, hereditary spherocytic hemolytic	Anemia	ORPHANET_DG	23664421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	15961789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	29084740		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	LHGDN	15310273		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	33210974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34454393, 34888385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	2550934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32201399, 32873799, 36753369	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	35641209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34454393, 36905103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33579226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27470641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema	Hereditary xerocytosis	Pubtator	34201899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	29484404, 3708157	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ELLIPTOCYTOSIS 2 (disorder)	Elliptocytosis	UNIPROT_DG	1541680, 1638030, 1679439, 1878597, 2384601, 2568861, 2568862, 2794061, 7772539, 8018926, 8193371, 8364215		★★★★★ ★☆☆☆☆ Found in Text Mining only
ELLIPTOCYTOSIS 2 (disorder)	Elliptocytosis	GENOMICS_ENGLAND_DG	1679439, 8941647		★★★★★ ★☆☆☆☆ Found in Text Mining only
ELLIPTOCYTOSIS 2 (disorder)	Elliptocytosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ELLIPTOCYTOSIS 2 (disorder)	Elliptocytosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Elliptocytosis Hereditary	Hereditary elliptocytosis	Pubtator	10192450, 2567189, 2568862, 27667160, 2794061, 31145309, 32751168, 3708157, 9354690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Elliptocytosis, Hereditary	Elliptocytosis	BEFREE	10192450, 12432217, 24077844, 24193021, 27667160, 28694211, 29484404, 31145309		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	ORPHANET_DG	23664421		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	23571757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	31145309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilbert Disease	Gilbert syndrome	Pubtator	35650129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26496030, 31815141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31815141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31815141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	31145309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	34481427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	35321643, 37280519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	29084740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary elliptocytosis	Hereditary Elliptocytosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	GENOMICS_ENGLAND_DG	1679439, 8941647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	UNIPROT_DG	1878597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	2568862, 27667160, 31038472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	12432217, 29402830		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spherocytosis	Hereditary Spherocytosis	ORPHANET_DG	23664421		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spherocytosis	Hereditary Spherocytosis	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	31145309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	31145309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	20858683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	17885671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25686859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microspherocytosis	Microspherocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	33148303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	36753369	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29763375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32345668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	34393665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	25863124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25863124, 31199602, 35641209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	15384986, 30816434, 31038472, 31122244, 31602632, 32266426, 32436265, 33198927, 33210974, 33620149, 34201899, 34481427, 35650129, 37280519, 37385619, 38069343 View all (1 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	35568031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, TYPE 3 (disorder)	Spherocytosis	GENOMICS_ENGLAND_DG	1679439, 8941647		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, TYPE 3 (disorder)	Spherocytosis	CLINVAR_DG	27667160		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, TYPE 3 (disorder)	Spherocytosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	31145309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37223105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SPTA1 (spectrin alpha, erythrocytic 1)