SPTB (spectrin beta, erythrocytic)

Gene

• Entrez ID: 6710
• Gene name: Spectrin beta, erythrocytic
• Gene symbol: SPTB
• Synonyms (NCBI Gene): EL3, HS2, HSPTB1, SPH2
• Chromosome: 14
• Chromosome location: 14q23.3
• Summary: This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17180350	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121918645	C>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918646	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918647	G>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918648	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918649	A>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918650	C>G,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918651	T>C	Pathogenic	Missense variant, initiator codon variant
rs150471537	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs200386310	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs267607086	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204766	C>T	Likely-pathogenic	Splice donor variant
rs863223302	C>A	Pathogenic	Intron variant, genic downstream transcript variant
rs863223303	->TC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs863223304	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555366592	->AA	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555366607	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1555367318	ACCTGGGCCTC>-	Pathogenic	Splice donor variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1555367359	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555367789	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1555370967	CACGAGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555371769	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566754467	C>A	Pathogenic	Stop gained, coding sequence variant
rs1594753904	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1594767593	G>A	Pathogenic	Stop gained, coding sequence variant
rs1594770057	T>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018509	hsa-miR-335-5p	Microarray	18185580
MIRT043541	hsa-miR-331-3p	CLASH	23622248
MIRT1386682	hsa-miR-1233	CLIP-seq
MIRT1386683	hsa-miR-1238	CLIP-seq
MIRT1386684	hsa-miR-125a-5p	CLIP-seq
MIRT1386685	hsa-miR-125b	CLIP-seq
MIRT1386686	hsa-miR-1275	CLIP-seq
MIRT1386687	hsa-miR-129-3p	CLIP-seq
MIRT1386688	hsa-miR-129-5p	CLIP-seq
MIRT1386689	hsa-miR-1299	CLIP-seq
MIRT1386690	hsa-miR-1470	CLIP-seq
MIRT1386691	hsa-miR-1913	CLIP-seq
MIRT1386692	hsa-miR-3158-3p	CLIP-seq
MIRT1386693	hsa-miR-324-3p	CLIP-seq
MIRT1386694	hsa-miR-3622a-3p	CLIP-seq
MIRT1386695	hsa-miR-3622b-3p	CLIP-seq
MIRT1386696	hsa-miR-3667-3p	CLIP-seq
MIRT1386697	hsa-miR-370	CLIP-seq
MIRT1386698	hsa-miR-3923	CLIP-seq
MIRT1386699	hsa-miR-3960	CLIP-seq
MIRT1386700	hsa-miR-4265	CLIP-seq
MIRT1386701	hsa-miR-4271	CLIP-seq
MIRT1386702	hsa-miR-4285	CLIP-seq
MIRT1386703	hsa-miR-4290	CLIP-seq
MIRT1386704	hsa-miR-4296	CLIP-seq
MIRT1386705	hsa-miR-4319	CLIP-seq
MIRT1386706	hsa-miR-4322	CLIP-seq
MIRT1386707	hsa-miR-4417	CLIP-seq
MIRT1386708	hsa-miR-4436b-5p	CLIP-seq
MIRT1386709	hsa-miR-4446-3p	CLIP-seq
MIRT1386710	hsa-miR-4467	CLIP-seq
MIRT1386711	hsa-miR-4493	CLIP-seq
MIRT1386712	hsa-miR-4506	CLIP-seq
MIRT1386713	hsa-miR-4640-5p	CLIP-seq
MIRT1386714	hsa-miR-4665-5p	CLIP-seq
MIRT1386715	hsa-miR-4691-5p	CLIP-seq
MIRT1386716	hsa-miR-4694-3p	CLIP-seq
MIRT1386717	hsa-miR-4695-5p	CLIP-seq
MIRT1386718	hsa-miR-4725-3p	CLIP-seq
MIRT1386719	hsa-miR-4726-5p	CLIP-seq
MIRT1386720	hsa-miR-4732-3p	CLIP-seq
MIRT1386721	hsa-miR-4747-5p	CLIP-seq
MIRT1386722	hsa-miR-4749-3p	CLIP-seq
MIRT1386723	hsa-miR-4763-5p	CLIP-seq
MIRT1386724	hsa-miR-4767	CLIP-seq
MIRT1386725	hsa-miR-4782-5p	CLIP-seq
MIRT1386726	hsa-miR-516b	CLIP-seq
MIRT1386727	hsa-miR-522	CLIP-seq
MIRT1386728	hsa-miR-548ae	CLIP-seq
MIRT1386729	hsa-miR-548aj	CLIP-seq
MIRT1386730	hsa-miR-548am	CLIP-seq
MIRT1386731	hsa-miR-548x	CLIP-seq
MIRT1386732	hsa-miR-628-3p	CLIP-seq
MIRT1386733	hsa-miR-629	CLIP-seq
MIRT1386734	hsa-miR-659	CLIP-seq
MIRT1386735	hsa-miR-670	CLIP-seq
MIRT1554121	hsa-miR-1261	CLIP-seq
MIRT1554122	hsa-miR-1267	CLIP-seq
MIRT1554123	hsa-miR-137	CLIP-seq
MIRT1554124	hsa-miR-3201	CLIP-seq
MIRT1554125	hsa-miR-4791	CLIP-seq
MIRT1554126	hsa-miR-654-3p	CLIP-seq
MIRT2115761	hsa-miR-1266	CLIP-seq
MIRT2115762	hsa-miR-3127-5p	CLIP-seq
MIRT2115763	hsa-miR-3135b	CLIP-seq
MIRT2115764	hsa-miR-3192	CLIP-seq
MIRT2115765	hsa-miR-3652	CLIP-seq
MIRT2115766	hsa-miR-3907	CLIP-seq
MIRT2115767	hsa-miR-3918	CLIP-seq
MIRT2115768	hsa-miR-4299	CLIP-seq
MIRT2115769	hsa-miR-4430	CLIP-seq
MIRT1386709	hsa-miR-4446-3p	CLIP-seq
MIRT2115770	hsa-miR-4456	CLIP-seq
MIRT2115771	hsa-miR-4492	CLIP-seq
MIRT2115772	hsa-miR-4498	CLIP-seq
MIRT2115773	hsa-miR-4518	CLIP-seq
MIRT2115774	hsa-miR-548q	CLIP-seq
MIRT2115775	hsa-miR-762	CLIP-seq
MIRT1386723	hsa-miR-4763-5p	CLIP-seq
MIRT2395125	hsa-miR-1587	CLIP-seq
MIRT2395126	hsa-miR-3176	CLIP-seq
MIRT2395127	hsa-miR-378g	CLIP-seq
MIRT2395128	hsa-miR-3922-3p	CLIP-seq
MIRT2115771	hsa-miR-4492	CLIP-seq
MIRT2115772	hsa-miR-4498	CLIP-seq
MIRT2395129	hsa-miR-4656	CLIP-seq
MIRT2395130	hsa-miR-4675	CLIP-seq
MIRT2395131	hsa-miR-4741	CLIP-seq
MIRT2395132	hsa-miR-668	CLIP-seq
MIRT2115775	hsa-miR-762	CLIP-seq
MIRT2395125	hsa-miR-1587	CLIP-seq
MIRT2395127	hsa-miR-378g	CLIP-seq
MIRT2115771	hsa-miR-4492	CLIP-seq
MIRT2115772	hsa-miR-4498	CLIP-seq
MIRT2395129	hsa-miR-4656	CLIP-seq
MIRT2395130	hsa-miR-4675	CLIP-seq
MIRT2395131	hsa-miR-4741	CLIP-seq
MIRT2440793	hsa-miR-593	CLIP-seq
MIRT2440794	hsa-miR-661	CLIP-seq
MIRT2115775	hsa-miR-762	CLIP-seq
MIRT2395125	hsa-miR-1587	CLIP-seq
MIRT2395127	hsa-miR-378g	CLIP-seq
MIRT2115771	hsa-miR-4492	CLIP-seq
MIRT2115772	hsa-miR-4498	CLIP-seq
MIRT2395129	hsa-miR-4656	CLIP-seq
MIRT2395130	hsa-miR-4675	CLIP-seq
MIRT2395131	hsa-miR-4741	CLIP-seq
MIRT2440793	hsa-miR-593	CLIP-seq
MIRT2440794	hsa-miR-661	CLIP-seq
MIRT2115775	hsa-miR-762	CLIP-seq
MIRT2460490	hsa-miR-339-5p	CLIP-seq
MIRT1386682	hsa-miR-1233	CLIP-seq
MIRT2691934	hsa-miR-146b-3p	CLIP-seq
MIRT2691935	hsa-miR-1914	CLIP-seq
MIRT2691936	hsa-miR-3157-3p	CLIP-seq
MIRT2691937	hsa-miR-383	CLIP-seq
MIRT2691938	hsa-miR-3942-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	TAS	2195026
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	10751147, 12820899, 16060676, 20197550, 23414517, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0008091	Component	Spectrin	IEA
GO:0008091	Component	Spectrin	TAS	8226774
GO:0009898	Component	Cytoplasmic side of plasma membrane	TAS	10950304
GO:0009986	Component	Cell surface	IDA	10867799
GO:0014731	Component	Spectrin-associated cytoskeleton	IDA	379653
GO:0014731	Component	Spectrin-associated cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	10950304
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030054	Component	Cell junction	IBA
GO:0030506	Function	Ankyrin binding	IEA
GO:0030506	Function	Ankyrin binding	IPI	8159688
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0032991	Component	Protein-containing complex	IDA	16060676
GO:0042995	Component	Cell projection	IBA
GO:0045202	Component	Synapse	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	16060676
GO:0051015	Function	Actin filament binding	IEA
GO:0051693	Process	Actin filament capping	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098885	Process	Modification of postsynaptic actin cytoskeleton	IDA	21297961
GO:0098885	Process	Modification of postsynaptic actin cytoskeleton	IMP	21297961
GO:0098978	Component	Glutamatergic synapse	IDA	21297961
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IMP	21297961

Other IDs

• MIM: 182870
• HGNC: 11274
• e!Ensembl: ENSG00000070182

Protein

• UniProt ID: P11277
• Protein name: Spectrin beta chain, erythrocytic (Beta-I 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: 1S35, 3EDU, 3F57, 3KBT, 3KBU, 3LBX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	54 → 159	Calponin homology (CH) domain	Domain
  PF00307	CH	173 → 279	Calponin homology (CH) domain	Domain
  PF00435	Spectrin	302 → 412	Spectrin repeat	Domain
  PF00435	Spectrin	422 → 526	Spectrin repeat	Domain
  PF00435	Spectrin	528 → 635	Spectrin repeat	Domain
  PF00435	Spectrin	637 → 741	Spectrin repeat	Domain
  PF00435	Spectrin	743 → 846	Spectrin repeat	Domain
  PF00435	Spectrin	848 → 952	Spectrin repeat	Domain
  PF00435	Spectrin	954 → 1059	Spectrin repeat	Domain
  PF00435	Spectrin	1061 → 1166	Spectrin repeat	Domain
  PF00435	Spectrin	1168 → 1272	Spectrin repeat	Domain
  PF00435	Spectrin	1274 → 1377	Spectrin repeat	Domain
  PF00435	Spectrin	1385 → 1482	Spectrin repeat	Domain
  PF00435	Spectrin	1478 → 1582	Spectrin repeat	Domain
  PF00435	Spectrin	1584 → 1688	Spectrin repeat	Domain
  PF00435	Spectrin	1690 → 1795	Spectrin repeat	Domain
  PF00435	Spectrin	1797 → 1901	Spectrin repeat	Domain
  PF00435	Spectrin	1903 → 2007	Spectrin repeat	Domain
  PF00435	Spectrin	2009 → 2095	Spectrin repeat	Domain

• Sequence:

  MTSATEFENVGNQPPYSRINARWDAPDDELDNDNSSARLFERSRIKALADEREVVQKKTF
  TKWVNSHLARVSCRITDLYKDLRDGRMLIKLLEVLSGEMLPKPTKGKMRIHCLENVDKAL
  QFLKEQRVHLENMGSHDIVDGNHRLVLGLIWTIILRFQIQDIVVQTQEGRETRSAKDALL
  LWCQMKTAGYPHVNVTNFTSSWKDGLAFNALIHKHRPDLIDFDKLKDSNARHNLEHAFNV
  AERQLGIIPLLDPEDVFTENPDEKSIITYVVAFYHYFSKMKVLAVEGKRVGKVIDHAIET
  EKMIEKYSGLASDLLTWIEQTITVLNSRKFANSLTGVQQQLQAFSTYRTVEKPPKFQEKG
  NLEVLLFTIQSRMRANNQKVYTPHDGKLVSDINRAWESLEEAEYRRELALRNELIRQEKL
  EQLARRFDRKAAMRETWLSENQRLVAQDNFGYDLAAVEAAKKKHEAIETDTAAYEERVRA
  LEDLAQELEKENYHDQKRITARKDNILRLWSYLQELLQSRRQRLETTLALQKLFQDMLHS
  IDWMDEIKAHLLSAEFGKHLLEVEDLLQKHKLMEADIAIQGDKVKAITAATLKFTEGKGY
  QPCDPQVIQDRISHLEQCFEELSNMAAGRKAQLEQSKRLWKFFWEMDEAESWIKEKEQIY
  SSLDYGKDLTSVLILQRKHKAFEDELRGLDAHLEQIFQEAHGMVARKQFGHPQIEARIKE
  VSAQWDQLKDLAAFCKKNLQDAENFFQFQGDADDLKAWLQDAHRLLSGEDVGQDEGATRA
  LGKKHKDFLEELEESRGVMEHLEQQAQGFPEEFRDSPDVTHRLQALRELYQQVVAQADLR
  QQRLQEALDLYTVFGETDACELWMGEKEKWLAEMEMPDTLEDLEVVQHRFDILDQEMKTL
  MTQIDGVNLAANSLVESGHPRSREVKQYQDHLNTRWQAFQTLVSERREAVDSALRVHNYC
  VDCEETSKWITDKTKVVESTKDLGRDLAGIIAIQRKLSGLERDVAAIQARVDALERESQQ
  LMDSHPEQKEDIGQRQKHLEELWQGLQQSLQGQEDLLGEVSQLQAFLQDLDDFQAWLSIT
  QKAVASEDMPESLPEAEQLLQQHAGIKDEIDGHQDSYQRVKESGEKVIQGQTDPEYLLLG
  QRLEGLDTGWNALGRMWESRSHTLAQCLGFQEFQKDAKQAEAILSNQEYTLAHLEPPDSL
  EAAEAGIRKFEDFLGSMENNRDKVLSPVDSGNKLVAEGNLYSDKIKEKVQLIEDRHRKNN
  EKAQEASVLLRDNLELQNFLQNCQELTLWINDKLLTSQDVSYDEARNLHNKWLKHQAFVA
  ELASHEGWLENIDAEGKQLMDEKPQFTALVSQKLEALHRLWDELQATTKEKTQHLSAARS
  SDLRLQTHADLNKWISAMEDQLRSDDPGKDLTSVNRMLAKLKRVEDQVNVRKEELGELFA
  QVPSMGEEGGDADLSIEKRFLDLLEPLGRRKKQLESSRAKLQISRDLEDETLWVEERLPL
  AQSADYGTNLQTVQLFMKKNQTLQNEILGHTPRVEDVLQRGQQLVEAAEIDCQDLEERLG
  HLQSSWDRLREAAAGRLQRLRDANEAQQYYLDADEAEAWIGEQELYVISDEIPKDEEGAI
  VMLKRHLRQQRAVEDYGRNIKQLASRAQGLLSAGHPEGEQIIRLQGQVDKHYAGLKDVAE
  ERKRKLENMYHLFQLKRETDDLEQWISEKELVASSPEMGQDFDHVTLLRDKFRDFARETG
  AIGQERVDNVNAFIERLIDAGHSEAATIAEWKDGLNEMWADLLELIDTRMQLLAASYDLH
  RYFYTGAEILGLIDEKHRELPEDVGLDASTAESFHRVHTAFERELHLLGVQVQQFQDVAT
  RLQTAYAGEKAEAIQNKEQEVSAAWQALLDACAGRRTQLVDTADKFRFFSMARDLLSWME
  SIIRQIETQERPRDVSSVELLMKYHQGINAEIETRSKNFSACLELGESLLQRQHQASEEI
  REKLQQVMSRRKEMNEKWEARWERLRMLLEVCQFSRDASVAEAWLIAQEPYLASGDFGHT
  VDSVEKLIKRHEAFEKSTASWAERFAALEKPTTLELKERQIAERPAEETGPQEEEGETAG
  EAPVSHHAATERTSPVSLWSRLSSSWESLQPEPSHPY

• Sequence length: 2137

Pathways

Reactome:

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

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
Anemia	Pathogenic	rs2503173064	RCV004798959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chudley-McCullough syndrome	Likely pathogenic; Pathogenic	rs757836263	RCV004813174	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Elliptocytosis 3	Likely pathogenic; Pathogenic	rs1235889026, rs2139560811, rs757425728, rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs267607086	RCV006249394 RCV001824279 RCV005008761 RCV000013679 RCV000013680 RCV000013682 RCV000013683 RCV000013687 RCV000013688 RCV000013692 RCV005007841	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemolytic anemia	Pathogenic	rs1555367318	RCV000626665	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spherocytosis	Likely pathogenic; Pathogenic	rs2503160116, rs1555366607, rs1555366592, rs1566754467	RCV003234638 RCV000625738 RCV000626334 RCV000766108	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spherocytosis type 2	Likely pathogenic; Pathogenic	rs757836263, rs2139596300, rs763084936, rs2139613101, rs1480466529, rs2139511447, rs2503301874, rs2503119189, rs2139632398, rs2503032968, rs763716590, rs2503157868, rs2503219666, rs2503160747, rs1182150046, rs767566180, rs2502975834, rs2503156034, rs2503173041, rs2503048077, rs2503090652, rs2503198272, rs777962458, rs2503112553, rs150328574, rs2503060655, rs2503065505, rs2503065637, rs2503173416, rs2503157076, rs2503119018, rs751809792, rs2503047710, rs2503091165, rs2503060918, rs2503150240, rs2503162476, rs2503219644, rs2503130656, rs2503060526, rs2503060145, rs786204766, rs757425728, rs2503227366, rs200386310, rs2503102921, rs762902447, rs2503038679, rs2503210409, rs2503160354, rs121918646, rs121918648, rs121918651, rs863223304, rs267607086, rs2503066387, rs2503070132, rs2503130437, rs2503162325, rs2503055611, rs766122956, rs2503213570, rs2503119393, rs2503173177, rs2503167736, rs1555367359, rs1555367789, rs150471537, rs1555369657, rs1555370967, rs1594773586, rs1594767593, rs1345709572, rs2139513700, rs2139555500, rs2139567892, rs2139592237, rs2139594261, rs2139621075, rs760938057	RCV004762150 RCV003326582 RCV001822889 RCV001805745 RCV001807992 RCV002291006 RCV002291032 RCV002291033 RCV002291034 RCV002291035 RCV002291036 RCV002291037 RCV002291038 RCV002291039 RCV002291040 RCV002291041 RCV002291042 RCV002291043 RCV002291044 RCV002291045 RCV002291046 RCV002291047 RCV002291049 RCV002291050 RCV002291051 RCV002291052 RCV002291053 RCV002291054 RCV002291055 RCV002291056 RCV002291057 RCV002291059 RCV002291060 RCV002291061 RCV002464045 RCV003108004 RCV002283735 RCV002283831 RCV002283991 RCV002287289 RCV002290397 RCV000169630 RCV005008761 RCV003989787 RCV000490389 RCV002790007 RCV003152886 RCV003314501 RCV003340828 RCV003337902 RCV000013684 RCV001004906 RCV000013693 RCV000013694 RCV000013696 RCV003388267 RCV003388657 RCV003388788 RCV003388808 RCV003484985 RCV005860380 RCV003986007 RCV004577053 RCV004587654 RCV004586375 RCV000655914 RCV000655910 RCV000655913 RCV000655909 RCV000655907 RCV000984331 RCV002290981 RCV001089997 RCV001534601 RCV001534600 RCV001534599 RCV001534604 RCV001534603 RCV001534602 RCV004789514	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyropoikilocytosis, hereditary	Pathogenic	rs121918647	RCV000013686	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPTB-related disorder	Likely pathogenic; Pathogenic	rs2139533161, rs2139511447, rs121918648, rs2503066387, rs2503198675, rs2502976776, rs1396334985, rs2503123019, rs2503042184, rs2503163168, rs2503180411, rs2503129257, rs2503167593, rs2082573854, rs1566775577	RCV004728817 RCV003948842 RCV004724739 RCV003400383 RCV003399563 RCV003399581 RCV003412391 RCV003418924 RCV003410885 RCV003416968 RCV003897077 RCV003911981 RCV003949851 RCV004727075 RCV003908497	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA, HEMOLYTIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, NEONATAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHAGAS CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ELLIPTOCYTOSIS, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hemolytic anemia	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spherocytosis type 3	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spherocytosis	not provided; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spherocytosis, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, HEREDITARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, HEREDITARY, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, TYPE 2	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	35406697, 37697358	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Neonatal	Neonatal anemia	Pubtator	9005995	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	19650141, 9395185	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	CTD_human_DG	9005995		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic, Acquired	Anemia	CTD_human_DG	9005995		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic, Congenital	Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, hereditary spherocytic hemolytic	Anemia	ORPHANET_DG	23664421		★☆☆☆☆ Found in Text Mining only
Anemia, Microangiopathic	Anemia	CTD_human_DG	9005995		★☆☆☆☆ Found in Text Mining only
Anemia, Neonatal	Anemia	CTD_human_DG	9005995		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18952640	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	9395185	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30798076		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30656857	Associate	★☆☆☆☆ Found in Text Mining only
ELLIPTOCYTOSIS 3	Elliptocytosis	UNIPROT_DG	1975598, 7883966, 8018926, 8226774		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ELLIPTOCYTOSIS 3	Elliptocytosis	GENOMICS_ENGLAND_DG	8226774		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ELLIPTOCYTOSIS 3	Elliptocytosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Elliptocytosis Hereditary	Hereditary elliptocytosis	Pubtator	1498324, 27667160	Associate	★☆☆☆☆ Found in Text Mining only
Elliptocytosis, Hereditary	Elliptocytosis	BEFREE	12432217, 1498324, 16158818, 24193021, 26830532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	CTD_human_DG	1975598		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	ORPHANET_DG	23664421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	GENOMICS_ENGLAND_DG	27906107, 8226774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	32113667	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	34182956	Associate	★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	30798076		★☆☆☆☆ Found in Text Mining only
Hereditary elliptocytosis	Hereditary Elliptocytosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	26830532		★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	12432217, 2141669, 26830532, 29228571, 29402830, 29505016, 29572776, 31602632		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spherocytosis	Hereditary Spherocytosis	CTD_human_DG	19538529, 8102379		★★★★☆ 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)
Hereditary spherocytosis	Hereditary Spherocytosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrops Fetalis	Hydrops fetalis	Pubtator	33761640	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	34672909	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
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	18323783	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30798076		★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	CTD_human_DG	9005995		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	8667615		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27448302		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	32113667	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27448302		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24289586	Associate	★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	29505016, 31122244, 31126250, 31602632, 32266426, 32436265, 33620149, 33761640, 33943044, 34182956, 34672909, 34681667, 35406697, 37385619, 38069343, 39521890, 40389840, 9450796, 9609518	Associate	★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	21360829, 32113667, 33943044, 37306287	Associate	★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, HEREDITARY, 2	Spherocytosis	CLINVAR_DG	11703334, 7883966, 8844207, 9714702		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, HEREDITARY, 2	Spherocytosis	UNIPROT_DG	19538529, 8102379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, HEREDITARY, 2	Spherocytosis	GENOMICS_ENGLAND_DG	27906107, 8226774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, HEREDITARY, 2	Spherocytosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, TYPE 1 (disorder)	Spherocytosis	BEFREE	26830532		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	9609518	Associate	★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	11559936	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only