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	57731
Gene name	Spectrin beta, non-erythrocytic 4
Gene symbol	SPTBN4
Synonyms (NCBI Gene)	CMNDNEDHNDQVSPNB4SPTBN3
Chromosome	19
Chromosome location	19q13.2
Summary	Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is compo

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs765087147	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs777273785	C>A,T	Pathogenic	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs864309618	G>A	Uncertain-significance, pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1114167445	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1555721549	G>-	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1555815437	->AGCGGGCGGCGCGCATGACC	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555818396	G>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1599759068	GC>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1599794560	G>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1599819198	->ATGAGGCC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

Show/Hide all (54)

miRTarBase ID	miRNA	Experiments
MIRT1386928	hsa-let-7a	CLIP-seq
MIRT1386929	hsa-let-7b	CLIP-seq
MIRT1386930	hsa-let-7c	CLIP-seq
MIRT1386931	hsa-let-7d	CLIP-seq
MIRT1386932	hsa-let-7e	CLIP-seq
MIRT1386933	hsa-let-7f	CLIP-seq
MIRT1386934	hsa-let-7g	CLIP-seq
MIRT1386935	hsa-let-7i	CLIP-seq
MIRT1386936	hsa-miR-103a	CLIP-seq
MIRT1386937	hsa-miR-107	CLIP-seq
MIRT1386938	hsa-miR-1293	CLIP-seq
MIRT1386939	hsa-miR-1294	CLIP-seq
MIRT1386940	hsa-miR-1324	CLIP-seq
MIRT1386941	hsa-miR-202	CLIP-seq
MIRT1386942	hsa-miR-3179	CLIP-seq
MIRT1386943	hsa-miR-3202	CLIP-seq
MIRT1386944	hsa-miR-3714	CLIP-seq
MIRT1386945	hsa-miR-3922-5p	CLIP-seq
MIRT1386946	hsa-miR-4310	CLIP-seq
MIRT1386947	hsa-miR-4447	CLIP-seq
MIRT1386948	hsa-miR-4458	CLIP-seq
MIRT1386949	hsa-miR-4472	CLIP-seq
MIRT1386950	hsa-miR-4481	CLIP-seq
MIRT1386951	hsa-miR-4483	CLIP-seq
MIRT1386952	hsa-miR-4484	CLIP-seq
MIRT1386953	hsa-miR-4500	CLIP-seq
MIRT1386954	hsa-miR-4651	CLIP-seq
MIRT1386955	hsa-miR-4710	CLIP-seq
MIRT1386956	hsa-miR-4745-5p	CLIP-seq
MIRT1386957	hsa-miR-4747-5p	CLIP-seq
MIRT1386958	hsa-miR-4756-3p	CLIP-seq
MIRT1386959	hsa-miR-4758-5p	CLIP-seq
MIRT1386960	hsa-miR-4792	CLIP-seq
MIRT1386961	hsa-miR-548an	CLIP-seq
MIRT1386962	hsa-miR-608	CLIP-seq
MIRT1386963	hsa-miR-98	CLIP-seq
MIRT2115814	hsa-miR-1180	CLIP-seq
MIRT2115815	hsa-miR-1226	CLIP-seq
MIRT1386938	hsa-miR-1293	CLIP-seq
MIRT1386951	hsa-miR-4483	CLIP-seq
MIRT1386954	hsa-miR-4651	CLIP-seq
MIRT2115816	hsa-miR-4664-3p	CLIP-seq
MIRT2115817	hsa-miR-4667-3p	CLIP-seq
MIRT1386955	hsa-miR-4710	CLIP-seq
MIRT2115818	hsa-miR-4733-3p	CLIP-seq
MIRT1386960	hsa-miR-4792	CLIP-seq
MIRT1386962	hsa-miR-608	CLIP-seq
MIRT2460492	hsa-miR-1321	CLIP-seq
MIRT2460493	hsa-miR-1915	CLIP-seq
MIRT2460494	hsa-miR-2355-5p	CLIP-seq
MIRT2460495	hsa-miR-4270	CLIP-seq
MIRT2460496	hsa-miR-4441	CLIP-seq
MIRT2460497	hsa-miR-4739	CLIP-seq
MIRT2460498	hsa-miR-4756-5p	CLIP-seq

Show/Hide all (79)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002028	Process	Regulation of sodium ion transport	IEA
GO:0002028	Process	Regulation of sodium ion transport	ISS
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	11294830
GO:0005515	Function	Protein binding	IPI	11086001, 12812986
GO:0005543	Function	Phospholipid binding	IEA
GO:0005737	Component	Cytoplasm	IDA	11294830
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	ISS
GO:0005912	Component	Adherens junction	ISS
GO:0005938	Component	Cell cortex	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007409	Process	Axonogenesis	ISS
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	ISS
GO:0007628	Process	Adult walking behavior	IEA
GO:0007628	Process	Adult walking behavior	ISS
GO:0008091	Component	Spectrin	IDA	11086001
GO:0008091	Component	Spectrin	IEA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0009566	Process	Fertilization	IEA
GO:0010459	Process	Negative regulation of heart rate	IEA
GO:0010459	Process	Negative regulation of heart rate	ISS
GO:0014704	Component	Intercalated disc	IEA
GO:0016020	Component	Membrane	IDA	11086001
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	TAS	11294830
GO:0016363	Component	Nuclear matrix	IDA	11294830
GO:0016605	Component	PML body	IDA	11294830
GO:0019226	Process	Transmission of nerve impulse	IEA
GO:0019226	Process	Transmission of nerve impulse	ISS
GO:0019902	Function	Phosphatase binding	IPI	11086001
GO:0021952	Process	Central nervous system projection neuron axonogenesis	IBA
GO:0021952	Process	Central nervous system projection neuron axonogenesis	IEA
GO:0021952	Process	Central nervous system projection neuron axonogenesis	ISS
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030054	Component	Cell junction	IBA
GO:0030424	Component	Axon	IEA
GO:0030506	Function	Ankyrin binding	IDA	11294830
GO:0030507	Function	Spectrin binding	IEA
GO:0030507	Function	Spectrin binding	ISS
GO:0030534	Process	Adult behavior	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0033268	Component	Node of Ranvier	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0033268	Component	Node of Ranvier	ISS
GO:0033270	Component	Paranode region of axon	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042995	Component	Cell projection	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043194	Component	Axon initial segment	IEA
GO:0043194	Component	Axon initial segment	ISS
GO:0043203	Component	Axon hillock	IEA
GO:0043203	Component	Axon hillock	ISS
GO:0044224	Component	Juxtaparanode region of axon	IEA
GO:0045162	Process	Clustering of voltage-gated sodium channels	IEA
GO:0045162	Process	Clustering of voltage-gated sodium channels	ISS
GO:0050905	Process	Neuromuscular process	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051693	Process	Actin filament capping	IEA
GO:0061337	Process	Cardiac conduction	IEA
GO:0061337	Process	Cardiac conduction	ISS
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070852	Component	Cell body fiber	IEA
GO:0070852	Component	Cell body fiber	ISS
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	ISS
GO:0106006	Function	Cytoskeletal protein-membrane anchor activity	TAS	11086001

MIM	HGNC	e!Ensembl
606214	14896	ENSG00000160460

Q9H254

Protein name

Spectrin beta chain, non-erythrocytic 4 (Beta-IV spectrin) (Spectrin, non-erythroid beta chain 3)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	61 → 166	Calponin homology (CH) domain	Domain
PF00307	CH	180 → 286	Calponin homology (CH) domain	Domain
PF00435	Spectrin	309 → 419	Spectrin repeat	Domain
PF00435	Spectrin	429 → 533	Spectrin repeat	Domain
PF00435	Spectrin	535 → 642	Spectrin repeat	Domain
PF00435	Spectrin	773 → 879	Spectrin repeat	Domain
PF00435	Spectrin	881 → 985	Spectrin repeat	Domain
PF00435	Spectrin	1088 → 1197	Spectrin repeat	Domain
PF00435	Spectrin	1305 → 1408	Spectrin repeat	Domain
PF00435	Spectrin	1410 → 1513	Spectrin repeat	Domain
PF00435	Spectrin	1515 → 1619	Spectrin repeat	Domain
PF00435	Spectrin	1622 → 1725	Spectrin repeat	Domain
PF00435	Spectrin	1727 → 1832	Spectrin repeat	Domain
PF00435	Spectrin	1834 → 1939	Spectrin repeat	Domain
PF00435	Spectrin	1942 → 2046	Spectrin repeat	Domain
PF00435	Spectrin	2048 → 2127	Spectrin repeat	Domain
PF15410	PH_9	2420 → 2527	Pleckstrin homology domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in skeletal muscle at the sarcolemma and in the muscle capillaries (at protein level) (PubMed:28540413). Abundantly expressed in brain and pancreatic islets (PubMed:11086001). {ECO:0000269|PubMed:11086001, ECO:0000269|PubMed:

Sequence

MAQVPGEVDNMEGLPAPNNNPAARWESPDRGWEREQPAASTAAASLFECSRIKALADERE
AVQKKTFTKWVNSHLARVGCHIGDLYVDLRDGFVLTRLLEVLSGEQLPRPTRGRMRIHSL
ENVDKALQFLKEQRVHLENVGSHDIVDGNHRLTLGLVWTIILRFQIQVIKIETEDNRETR
SAKDALLLWCQMKTAGYPEVNIQNFTTSWRDGLAFNALIHRHRPDLVDFSKLTKSNANYN
LQRAFRTAEQHLGLARLLDPEDVNMEAPDEKSIITYVVSFYHYFSKMKALAVEGKRIGKV
LDQVLEVGKIIERYEELAAELLAWIHRTVGLISNQKFANSLSGVQQQLQAFTAYCTLEKP
VKFQEKGNLEVLLFSIQSKLRACNRRLFVPREGCGIWDIDKAWGELEKAEHEREAALRAE
LIRQEKLELLAQRFDHKVAMRESWLNENQRLVSQDNFGYELPAVEAAMKKHEAIEADIAA
YEERVQGVAELAQALAAEGYYDIRRVAAQRDSVLRQWALLTGLVGARRTRLEQNLALQKV
FQEMVYMVDWMEEMQAQLLSRECGQHLVEADDLLQKHGLLEGDIAAQSERVEALNAAALR
FSQLQGYQPCDPQVICNRVNHVHGCLAELQEQAARRRAELEASRSLWALLQELEEAESWA
RDKERLLEAAGGGGAAGAAGAAGTAGGAHDLSSTARLLAQHKILQGELGGRRALLQQALR
CGEELVAAGGAVGPGADTVHLVGLAERAASARRRWQRLEEAAARRERRLQEARALHQFGA
DLDGLLDWLRDAYRLAAAGDFGHDEASSRRLARQHRALTGEVEAHRGPVSGLRRQLATLG
GASGAGPLVVALQVRVVEAEQLFAEVTEVAALRRQWLRDALAVYRMFGEVHACELWIGEK
EQWLLSMRVPDSLDDVEVVQHRFESLDQEMNSLMGRVLDVNHTVQELVEGGHPSSDEVRS
CQDHLNSRWNRIVELVEQRKEEMSAVLLVENHVLEVAEVRAQVREKRRAVESAPRAGGAL
QWRLSGLEAALQALEPRQAALLEEAALLAERFPAQAARLHQGAEELGAEWGALASAAQAC
GEAVAAAGRLQRFLHDLDAFLDWLVRAQEAAGGSEGPLPNSLEEADALLARHAALKEEVD
QREEDYARIVAASEALLAADGAELGPGLALDEWLPHLELGWHKLLGLWEARREALVQAHI
YQLFLRDLRQALVVLRNQEMALSGAELPGTVESVEEALKQHRDFLTTMELSQQKMQVAVQ
AAEGLLRQGNIYGEQAQEAVTRLLEKNQENQLRAQQWMQKLHDQLELQHFLRDCHELDGW
IHEKMLMARDGTREDNHKLHKRWLRHQAFMAELAQNKEWLEKIEREGQQLMQEKPELAAS
VRKKLGEIRQCWAELESTTQAKARQLFEASKADQLVQSFAELDKKLLHMESQLQDVDPGG
DLATVNSQLKKLQSMESQVEEWYREVGELQAQTAALPLEPASKELVGERQNAVGERLVRL
LEPLQERRRLLLASKELHQVAHDLDDELAWVQERLPLAMQTERGNGLQAVQQHIKKNQGL
RREIQAHGPRLEEVLERAGALASLRSPEAEAVRRGLEQLQSAWAGLREAAERRQQVLDAA
FQVEQYYFDVAEVEAWLGEQELLMMSEDKGKDEQSTLQLLKKHLQLEQGVENYEESIAQL
SRQCRALLEMGHPDSEQISRRQSQVDRLYVALKELGEERRVALEQQYWLYQLSRQVSELE
HWIAEKEVVAGSPELGQDFEHVSVLQEKFSEFASETGMAGRERLAAVNQMVDELIECGHT
AAATMAEWKDGLNEAWAELLELMGTRAQLLAASRELHKFFSDARELQGQIEEKRRRLPRL
TTPPEPRPSASSMQRTLRAFEHDLQLLVSQVRQLQEGAAQLRTVYAGEHAEAIASREQEV
LQGWKELLSACEDARLHVSSTADALRFHSQVRDLLSWMDGIASQIGAADKPRDVSSVEVL
MNYHQGLKTELEARVPELTTCQELGRSLLLNKSAMADEIQAQLDKLGTRKEEVSEKWDRH
WEWLQQMLEVHQFAQEAVVADAWLTAQEPLLQSRELGSSVDEVEQLIRRHEAFRKAAAAW
EERFSSLRRLTTIEKIKAEQSKQPPTPLLGRKFFGDPTELAAKAAPLLRPGGYERGLEPL
ARRASDTLSAEVRTRVGYVRQELKPERLQPRIDRLPEIPGRVEPAALPAAPEDAAETPAT
PAAAEQVRPRPERQESADRAEELPRRRRPERQESVDQSEEAARRRRPERQESAEHEAAHS
LTLGRYEQMERRRERRERRLERQESSEQEMPIRGDLVKGKATLADIVEQLQEKEAGPGLP
AGPSLPQPRELPPGRLPNGLELPERTPRPDRPRARDRPKPRRRPRPREGGEGGGSRRSRS
APAQGGSAPAPPPPPTHTVQHEGFLLRKRELDANRKSSNRSWVSLYCVLSKGELGFYKDS
KGPASGSTHGGEPLLSLHKATSEVASDYKKKKHVFKLQTQDGSEFLLQAKDEEEMNGWLE
AVASSVAEHAEIARWGQTLPTTSSTDEGNPKREGGDRRASGRRK

Sequence length

2564

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells		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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	Pathogenic; Likely pathogenic	rs1438895984, rs2515236840, rs2515027089, rs2080404297, rs2515176041, rs2515217064, rs2515039611, rs554043340, rs1114167445, rs1555818396, rs777273785, rs1555721549, rs1599794560, rs2080505282, rs2080274080, rs370960966, rs2080278571 View all (2 more)	RCV001332381 RCV002288408 RCV002510717 RCV003147890 RCV003230804 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPTBN4-related disorder	Likely pathogenic	rs2515228997	RCV003405867	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed myelination	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypotonia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPTBN4-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthrogryposis	Arthrogryposis	Pubtator	31230720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory Neuropathy	BEFREE	29861105, 29907663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	29861105, 29907663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31550236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	33772159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	BEFREE	28540413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	28540413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	33772159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29937715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypersensitivity Delayed	Hypersensitivity	Pubtator	34895032	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33772159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	11391009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28540413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	33772159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS	Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	GENOMICS_ENGLAND_DG	28540413		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuropathy	Neuropathy	BEFREE	28540413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	33772159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic syndrome	Pubtator	11391009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SPTBN4 (spectrin beta, non-erythrocytic 4)