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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	219285
Gene name	Sterile alpha motif domain containing 9 like
Gene symbol	SAMD9L
Synonyms (NCBI Gene)	ATXPCC7DELqC7orf6DEL7qDRIF2M7MLS1MLSM7SCA49UEF1
Chromosome	7
Chromosome location	7q21.2
Summary	This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occ

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SNP ID	Visualize variation	Clinical significance	Consequence
rs878855336	G>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs878855337	C>G	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1554341158	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1554341277	A>G	Pathogenic	Coding sequence variant, missense variant

252

Show/Hide all (252)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021276	hsa-miR-146a-5p	Microarray	18057241
MIRT647752	hsa-miR-6731-5p	HITS-CLIP	23824327
MIRT647751	hsa-miR-8085	HITS-CLIP	23824327
MIRT647750	hsa-miR-3175	HITS-CLIP	23824327
MIRT647749	hsa-miR-1343-5p	HITS-CLIP	23824327
MIRT647748	hsa-miR-939-5p	HITS-CLIP	23824327
MIRT647747	hsa-miR-6825-5p	HITS-CLIP	23824327
MIRT647746	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT647745	hsa-miR-4425	HITS-CLIP	23824327
MIRT647744	hsa-miR-3147	HITS-CLIP	23824327
MIRT647743	hsa-miR-2110	HITS-CLIP	23824327
MIRT647742	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT647741	hsa-miR-3150a-3p	HITS-CLIP	23824327
MIRT647740	hsa-miR-6763-5p	HITS-CLIP	23824327
MIRT647739	hsa-miR-6857-5p	HITS-CLIP	23824327
MIRT647738	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT647737	hsa-miR-4455	HITS-CLIP	23824327
MIRT647736	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT446863	hsa-miR-6796-3p	PAR-CLIP	22100165
MIRT446862	hsa-miR-6508-5p	PAR-CLIP	22100165
MIRT446861	hsa-miR-8067	PAR-CLIP	22100165
MIRT446860	hsa-miR-517-5p	PAR-CLIP	22100165
MIRT446859	hsa-miR-873-3p	PAR-CLIP	22100165
MIRT446858	hsa-miR-1301-5p	PAR-CLIP	22100165
MIRT446857	hsa-miR-6502-5p	PAR-CLIP	22100165
MIRT446856	hsa-miR-3672	PAR-CLIP	22100165
MIRT446854	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT446855	hsa-miR-1273e	PAR-CLIP	22100165
MIRT439713	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439711	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439713	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726661	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726660	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726658	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726659	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439711	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT647749	hsa-miR-1343-5p	HITS-CLIP	27418678
MIRT647749	hsa-miR-1343-5p	HITS-CLIP	27418678
MIRT647743	hsa-miR-2110	HITS-CLIP	27418678
MIRT647743	hsa-miR-2110	HITS-CLIP	27418678
MIRT647744	hsa-miR-3147	HITS-CLIP	27418678
MIRT647744	hsa-miR-3147	HITS-CLIP	27418678
MIRT647741	hsa-miR-3150a-3p	HITS-CLIP	27418678
MIRT647741	hsa-miR-3150a-3p	HITS-CLIP	27418678
MIRT647750	hsa-miR-3175	HITS-CLIP	27418678
MIRT647750	hsa-miR-3175	HITS-CLIP	27418678
MIRT647745	hsa-miR-4425	HITS-CLIP	27418678
MIRT647745	hsa-miR-4425	HITS-CLIP	27418678
MIRT647737	hsa-miR-4455	HITS-CLIP	27418678
MIRT647737	hsa-miR-4455	HITS-CLIP	27418678
MIRT647738	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT647738	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT647736	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT647736	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT647752	hsa-miR-6731-5p	HITS-CLIP	27418678
MIRT647740	hsa-miR-6763-5p	HITS-CLIP	27418678
MIRT647740	hsa-miR-6763-5p	HITS-CLIP	27418678
MIRT647742	hsa-miR-6810-5p	HITS-CLIP	27418678
MIRT647742	hsa-miR-6810-5p	HITS-CLIP	27418678
MIRT647747	hsa-miR-6825-5p	HITS-CLIP	27418678
MIRT647747	hsa-miR-6825-5p	HITS-CLIP	27418678
MIRT647739	hsa-miR-6857-5p	HITS-CLIP	27418678
MIRT647739	hsa-miR-6857-5p	HITS-CLIP	27418678
MIRT647746	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT647746	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT647751	hsa-miR-8085	HITS-CLIP	27418678
MIRT647748	hsa-miR-939-5p	HITS-CLIP	27418678
MIRT647748	hsa-miR-939-5p	HITS-CLIP	27418678
MIRT647752	hsa-miR-6731-5p	HITS-CLIP	23824327
MIRT647751	hsa-miR-8085	HITS-CLIP	23824327
MIRT647750	hsa-miR-3175	HITS-CLIP	23824327
MIRT647749	hsa-miR-1343-5p	HITS-CLIP	23824327
MIRT647748	hsa-miR-939-5p	HITS-CLIP	23824327
MIRT647747	hsa-miR-6825-5p	HITS-CLIP	23824327
MIRT647746	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT647745	hsa-miR-4425	HITS-CLIP	23824327
MIRT647744	hsa-miR-3147	HITS-CLIP	23824327
MIRT647743	hsa-miR-2110	HITS-CLIP	23824327
MIRT647742	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT647741	hsa-miR-3150a-3p	HITS-CLIP	23824327
MIRT647740	hsa-miR-6763-5p	HITS-CLIP	23824327
MIRT647739	hsa-miR-6857-5p	HITS-CLIP	23824327
MIRT647738	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT647737	hsa-miR-4455	HITS-CLIP	23824327
MIRT647736	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT446863	hsa-miR-6796-3p	PAR-CLIP	22100165
MIRT446862	hsa-miR-6508-5p	PAR-CLIP	22100165
MIRT446861	hsa-miR-8067	PAR-CLIP	22100165
MIRT446860	hsa-miR-517-5p	PAR-CLIP	22100165
MIRT446859	hsa-miR-873-3p	PAR-CLIP	22100165
MIRT446858	hsa-miR-1301-5p	PAR-CLIP	22100165
MIRT446857	hsa-miR-6502-5p	PAR-CLIP	22100165
MIRT446856	hsa-miR-3672	PAR-CLIP	22100165
MIRT446854	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT446855	hsa-miR-1273e	PAR-CLIP	22100165
MIRT1325653	hsa-miR-1343	CLIP-seq
MIRT1325654	hsa-miR-181a	CLIP-seq
MIRT1325655	hsa-miR-181b	CLIP-seq
MIRT1325656	hsa-miR-181c	CLIP-seq
MIRT1325657	hsa-miR-181d	CLIP-seq
MIRT1325658	hsa-miR-3201	CLIP-seq
MIRT1325659	hsa-miR-4262	CLIP-seq
MIRT1325660	hsa-miR-4299	CLIP-seq
MIRT1325661	hsa-miR-4522	CLIP-seq
MIRT1325662	hsa-miR-4738-3p	CLIP-seq
MIRT1325663	hsa-miR-4753-3p	CLIP-seq
MIRT1325664	hsa-miR-4768-5p	CLIP-seq
MIRT1325665	hsa-miR-4791	CLIP-seq
MIRT1325666	hsa-miR-493	CLIP-seq
MIRT1325667	hsa-miR-617	CLIP-seq
MIRT1325668	hsa-miR-944	CLIP-seq
MIRT2096589	hsa-miR-122	CLIP-seq
MIRT2096590	hsa-miR-939	CLIP-seq
MIRT2394026	hsa-miR-4693-3p	CLIP-seq
MIRT2096590	hsa-miR-939	CLIP-seq
MIRT2616916	hsa-miR-1227	CLIP-seq
MIRT2616917	hsa-miR-124	CLIP-seq
MIRT2616918	hsa-miR-1253	CLIP-seq
MIRT2616919	hsa-miR-1298	CLIP-seq
MIRT2616920	hsa-miR-1321	CLIP-seq
MIRT2616921	hsa-miR-135a	CLIP-seq
MIRT2616922	hsa-miR-135b	CLIP-seq
MIRT2616923	hsa-miR-146a	CLIP-seq
MIRT2616924	hsa-miR-146b-5p	CLIP-seq
MIRT2616925	hsa-miR-185	CLIP-seq
MIRT2616926	hsa-miR-2054	CLIP-seq
MIRT2616927	hsa-miR-2113	CLIP-seq
MIRT2616928	hsa-miR-216a	CLIP-seq
MIRT2616929	hsa-miR-27a	CLIP-seq
MIRT2616930	hsa-miR-27b	CLIP-seq
MIRT2616931	hsa-miR-3117-5p	CLIP-seq
MIRT2616932	hsa-miR-3123	CLIP-seq
MIRT2616933	hsa-miR-3127-5p	CLIP-seq
MIRT2616934	hsa-miR-3194-3p	CLIP-seq
MIRT2616935	hsa-miR-323-5p	CLIP-seq
MIRT2616936	hsa-miR-3607-3p	CLIP-seq
MIRT2616937	hsa-miR-3612	CLIP-seq
MIRT2616938	hsa-miR-3621	CLIP-seq
MIRT2616939	hsa-miR-3656	CLIP-seq
MIRT2616940	hsa-miR-3686	CLIP-seq
MIRT2616941	hsa-miR-3688-3p	CLIP-seq
MIRT2616942	hsa-miR-3714	CLIP-seq
MIRT2616943	hsa-miR-3910	CLIP-seq
MIRT2616944	hsa-miR-3915	CLIP-seq
MIRT2616945	hsa-miR-3925-5p	CLIP-seq
MIRT2616946	hsa-miR-3928	CLIP-seq
MIRT2616947	hsa-miR-421	CLIP-seq
MIRT2616948	hsa-miR-4269	CLIP-seq
MIRT2616949	hsa-miR-4270	CLIP-seq
MIRT2616950	hsa-miR-4306	CLIP-seq
MIRT2616951	hsa-miR-4436b-5p	CLIP-seq
MIRT2616952	hsa-miR-4441	CLIP-seq
MIRT2616953	hsa-miR-4480	CLIP-seq
MIRT2616954	hsa-miR-4514	CLIP-seq
MIRT2616955	hsa-miR-4644	CLIP-seq
MIRT2616956	hsa-miR-4687-5p	CLIP-seq
MIRT2616957	hsa-miR-4690-5p	CLIP-seq
MIRT2616958	hsa-miR-4692	CLIP-seq
MIRT2616959	hsa-miR-4709-5p	CLIP-seq
MIRT2616960	hsa-miR-4722-5p	CLIP-seq
MIRT2616961	hsa-miR-4734	CLIP-seq
MIRT2616962	hsa-miR-4739	CLIP-seq
MIRT2616963	hsa-miR-4742-5p	CLIP-seq
MIRT2616964	hsa-miR-4756-5p	CLIP-seq
MIRT2616965	hsa-miR-4760-3p	CLIP-seq
MIRT2616966	hsa-miR-4768-3p	CLIP-seq
MIRT2616967	hsa-miR-4773	CLIP-seq
MIRT2616968	hsa-miR-4789-3p	CLIP-seq
MIRT2616969	hsa-miR-506	CLIP-seq
MIRT2616970	hsa-miR-513a-5p	CLIP-seq
MIRT2616971	hsa-miR-548p	CLIP-seq
MIRT2616972	hsa-miR-556-3p	CLIP-seq
MIRT2616973	hsa-miR-570	CLIP-seq
MIRT2616974	hsa-miR-580	CLIP-seq
MIRT2616975	hsa-miR-589	CLIP-seq
MIRT2616976	hsa-miR-630	CLIP-seq
MIRT2616977	hsa-miR-650	CLIP-seq
MIRT2616978	hsa-miR-664	CLIP-seq
MIRT2616979	hsa-miR-671-5p	CLIP-seq
MIRT2616980	hsa-miR-876-3p	CLIP-seq
MIRT2616981	hsa-miR-877	CLIP-seq
MIRT2616982	hsa-miR-940	CLIP-seq
MIRT2616916	hsa-miR-1227	CLIP-seq
MIRT2616917	hsa-miR-124	CLIP-seq
MIRT2616918	hsa-miR-1253	CLIP-seq
MIRT2690195	hsa-miR-128	CLIP-seq
MIRT2616919	hsa-miR-1298	CLIP-seq
MIRT2616920	hsa-miR-1321	CLIP-seq
MIRT2616921	hsa-miR-135a	CLIP-seq
MIRT2616922	hsa-miR-135b	CLIP-seq
MIRT2616923	hsa-miR-146a	CLIP-seq
MIRT2616924	hsa-miR-146b-5p	CLIP-seq
MIRT2616925	hsa-miR-185	CLIP-seq
MIRT2616926	hsa-miR-2054	CLIP-seq
MIRT2616927	hsa-miR-2113	CLIP-seq
MIRT2616928	hsa-miR-216a	CLIP-seq
MIRT2616929	hsa-miR-27a	CLIP-seq
MIRT2616930	hsa-miR-27b	CLIP-seq
MIRT2616931	hsa-miR-3117-5p	CLIP-seq
MIRT2616932	hsa-miR-3123	CLIP-seq
MIRT2616933	hsa-miR-3127-5p	CLIP-seq
MIRT2690196	hsa-miR-3185	CLIP-seq
MIRT2616934	hsa-miR-3194-3p	CLIP-seq
MIRT2616935	hsa-miR-323-5p	CLIP-seq
MIRT2616936	hsa-miR-3607-3p	CLIP-seq
MIRT2616937	hsa-miR-3612	CLIP-seq
MIRT2616938	hsa-miR-3621	CLIP-seq
MIRT2616939	hsa-miR-3656	CLIP-seq
MIRT2616940	hsa-miR-3686	CLIP-seq
MIRT2616941	hsa-miR-3688-3p	CLIP-seq
MIRT2616942	hsa-miR-3714	CLIP-seq
MIRT2616943	hsa-miR-3910	CLIP-seq
MIRT2616944	hsa-miR-3915	CLIP-seq
MIRT2616945	hsa-miR-3925-5p	CLIP-seq
MIRT2616946	hsa-miR-3928	CLIP-seq
MIRT2616947	hsa-miR-421	CLIP-seq
MIRT2616948	hsa-miR-4269	CLIP-seq
MIRT2616949	hsa-miR-4270	CLIP-seq
MIRT2616950	hsa-miR-4306	CLIP-seq
MIRT2616951	hsa-miR-4436b-5p	CLIP-seq
MIRT2616952	hsa-miR-4441	CLIP-seq
MIRT2616953	hsa-miR-4480	CLIP-seq
MIRT2616954	hsa-miR-4514	CLIP-seq
MIRT2616955	hsa-miR-4644	CLIP-seq
MIRT2616956	hsa-miR-4687-5p	CLIP-seq
MIRT2616957	hsa-miR-4690-5p	CLIP-seq
MIRT2616958	hsa-miR-4692	CLIP-seq
MIRT2616959	hsa-miR-4709-5p	CLIP-seq
MIRT2616960	hsa-miR-4722-5p	CLIP-seq
MIRT2616961	hsa-miR-4734	CLIP-seq
MIRT2616962	hsa-miR-4739	CLIP-seq
MIRT2616963	hsa-miR-4742-5p	CLIP-seq
MIRT2616964	hsa-miR-4756-5p	CLIP-seq
MIRT2616965	hsa-miR-4760-3p	CLIP-seq
MIRT2616966	hsa-miR-4768-3p	CLIP-seq
MIRT2616967	hsa-miR-4773	CLIP-seq
MIRT2616968	hsa-miR-4789-3p	CLIP-seq
MIRT2616969	hsa-miR-506	CLIP-seq
MIRT2616970	hsa-miR-513a-5p	CLIP-seq
MIRT2616971	hsa-miR-548p	CLIP-seq
MIRT2616972	hsa-miR-556-3p	CLIP-seq
MIRT2616973	hsa-miR-570	CLIP-seq
MIRT2616974	hsa-miR-580	CLIP-seq
MIRT2690197	hsa-miR-583	CLIP-seq
MIRT2616975	hsa-miR-589	CLIP-seq
MIRT2616976	hsa-miR-630	CLIP-seq
MIRT2616977	hsa-miR-650	CLIP-seq
MIRT2616978	hsa-miR-664	CLIP-seq
MIRT2616979	hsa-miR-671-5p	CLIP-seq
MIRT2616980	hsa-miR-876-3p	CLIP-seq
MIRT2616981	hsa-miR-877	CLIP-seq
MIRT2616982	hsa-miR-940	CLIP-seq

Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24029230
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	35310830
GO:0005739	Component	Mitochondrion	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA

MIM	HGNC	e!Ensembl
611170	1349	ENSG00000177409

Q8IVG5

Protein name

Sterile alpha motif domain-containing protein 9-like (SAM domain-containing protein 9-like)

Protein function

May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors.

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. Expressed in the cerebellum (PubMed:35310830). Variable expression in tumors. Down-regulated in breast cancer. {ECO:0000269|PubMed:17407603, ECO:0000269|PubMed:35310830}.

Sequence

MSKQVSLPEMIKDWTKEHVKKWVNEDLKINEQYGQILLSEEVTGLVLQELTEKDLVEMGL
PWGPALLIKRSYNKLNSKSPESDNHDPGQLDNSKPSKTEHQKNPKHTKKEEENSMSSNID
YDPREIRDIKQEESILMKENVLDEVANAKHKKKGKLKPEQLTCMPYPFDQFHDSHRYIEH
YTLQPETGALNLIDPIHEFKALTNTETATEVDIKMKFSNEVFRFASACMNSRTNGTIHFG
VKDKPHGEIVGVKITSKAAFIDHFNVMIKKYFEESEINEAKKCIREPRFVEVLLQNNTPS
DRFVIEVDTIPKHSICNDKYFYIQMQICKDKIWKQNQNLSLFVREGASSRDILANSKQRD
VDFKAFLQNLKSLVASRKEAEEEYGMKAMKKESEGLKLVKLLIGNRDSLDNSYYDWYILV
TNKCHPNQIKHLDFLKEIKWFAVLEFDPESMINGVVKAYKESRVANLHFPNQYEDKTTNM
WEKISTLNLYQQPSWIFCNGRSDLKSETYKPLEPHLWQRERASEVRKLILFLTDENIMTR
GKFLVVFLLLSSVESPGDPLIETFWAFYQALKGMENMLCISVNSHIYQRWKDLLQTRMKM
EDELTNHSISTLNIELVNSTILKLKSVTRSSRRFLPARGSSSVILEKKKEDVLTALEILC
ENECTETDIEKDKSKFLEFKKSKEEHFYRGGKVSWWNFYFSSENYSSDFVKRDSYEKLKD
LIHCWAESPKPIFAKIINLYHHPGCGGTTLAMHVLWDLKKNFRCAVLKNKTTDFAEIAEQ
VINLVTYRAKSHQDYIPVLLLVDDFEEQENVYFLQNAIHSVLAEKDLRYEKTLVIILNCM
RSRNPDESAKLADSIALNYQLSSKEQRAFGAKLKEIEKQHKNCENFYSFMIMKSNFDETY
IENVVRNILKGQDVDSKEAQLISFLALLSSYVTDSTISVSQCEIFLGIIYTSTPWEPESL
EDKMGTYSTLLIKTEVAEYGRYTGVRIIHPLIALYCLKELERSYHLDKCQIALNILEENL
FYDSGIGRDKFQHDVQTLLLTRQRKVYGDETDTLFSPLMEALQNKDIEKVLSAGSRRFPQ
NAFICQALARHFYIKEKDFNTALDWARQAKMKAPKNSYISDTLGQVYKSEIKWWLDGNKN
CRSITVNDLTHLLEAAEKASRAFKESQRQTDSKNYETENWSPQKSQRRYDMYNTACFLGE
IEVGLYTIQILQLTPFFHKENELSKKHMVQFLSGKWTIPPDPRNECYLALSKFTSHLKNL
QSDLKRCFDFFIDYMVLLKMRYTQKEIAEIMLSKKVSRCFRKYTELFCHLDPCLLQSKES
QLLQEENCRKKLEALRADRFAGLLEYLNPNYKDATTMESIVNEYAFLLQQNSKKPMTNEK
QNSILANIILSCLKPNSKLIQPLTTLKKQLREVLQFVGLSHQYPGPYFLACLLFWPENQE
LDQDSKLIEKYVSSLNRSFRGQYKRMCRSKQASTLFYLGKRKGLNSIVHKAKIEQYFDKA
QNTNSLWHSGDVWKKNEVKDLLRRLTGQAEGKLISVEYGTEEKIKIPVISVYSGPLRSGR
NIERVSFYLGFSIEGPLAYDIEVI

Sequence length

1584

Interactions

View interactions

272

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ataxia-pancytopenia syndrome	Pathogenic; Likely pathogenic	rs878855336, rs1554341158, rs1554341277, rs1792213890	RCV000234838 RCV000515805 RCV000515793 RCV001262984
Intellectual disability	Likely pathogenic	rs1792226793	RCV001261385
interferonopathy	Likely pathogenic	rs2116486108	RCV001543402
Monosomy 7 myelodysplasia and leukemia syndrome 1	Likely pathogenic; Pathogenic	rs2116467712, rs2116506727, rs878855336, rs1554341158, rs1792140365	RCV001775457 RCV001808162 RCV001270307 RCV001270308 RCV001270310
SAMD9L-related disorder	Likely pathogenic; Pathogenic	rs2535423064, rs878855336	RCV003155679 RCV004737387

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hereditary cancer-predisposing syndrome	Uncertain significance	rs1304874755	RCV005602619
Microcephaly	Uncertain significance; Conflicting classifications of pathogenicity	rs1456483063, rs144236612, rs188902048	RCV001252723 RCV001252921 RCV001252929
Primary ciliary dyskinesia 12	Conflicting classifications of pathogenicity	rs199714577	RCV005863422
See cases	Benign; Likely benign	rs140536419	RCV002252767
Spinocerebellar ataxia 49	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs202162088, rs754761518, rs199714577, rs200160724, rs147903234, rs151204118, rs151304501, rs745823605, rs200412482, rs762236274, rs17165111, rs1433514195, rs751090202, rs773383426, rs2116491956 View all (16 more)	RCV002476473 RCV005040168 RCV005038099 RCV005038120 RCV003224557 RCV005040231 RCV005395054 RCV003886521 RCV005397005 RCV005040371 RCV005042537 RCV004577003 RCV002478352 RCV005038480 RCV005038495 RCV005032129 RCV002500219 RCV002283980 RCV005034676 RCV005045177 RCV005032351 RCV003224637 RCV003127222 RCV002221547 RCV004768632 RCV002502998 RCV003224497 RCV002507547 RCV002505293 RCV005392527 RCV002481811

Show/Hide Text Mining Associations (56)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aicardi Goutieres syndrome	Associate	34417303
Anemia	Associate	34417303
Anemia Aplastic	Associate	36012751, 36499545, 38597819
Autoimmune enteropathy	Associate	31306780
Bone Marrow Failure Disorders	Associate	31306780, 38597819
Bone Marrow Neoplasms	Associate	38597819
Carcinoma Hepatocellular	Associate	25076857
Chromosome 7 monosomy	Associate	29146883, 29217778, 30046003, 32770553, 37584291
Condylomata Acuminata	Associate	35131475
Congenital Bone Marrow Failure Syndromes	Associate	29146883
COVID 19	Associate	34920753
Cysts	Associate	31053103
Developmental Disabilities	Associate	35046037
Dilatation Pathologic	Associate	31053103
Drug Resistant Epilepsy	Associate	34621053
Fetal Growth Retardation	Associate	31306780
GATA2 Deficiency	Associate	28202457
Genetic Diseases Inborn	Associate	33948933
Graves Disease	Associate	36012751
Hematologic Diseases	Associate	28202457, 31053103, 31306780
Hematologic Neoplasms	Associate	27259050
Hemorrhage	Associate	31306780
Hepatitis B	Associate	25076857
Hereditary Autoinflammatory Diseases	Associate	33724365, 34417303
Hereditary renal agenesis	Associate	29146883, 38597819
Hypoadrenocorticism Familial	Associate	31306780
Immune System Diseases	Associate	33724365, 34621053, 36499545
Immunologic Deficiency Syndromes	Associate	28202457
Infections	Associate	31306780, 33724365, 34417303
Inflammation	Associate	34417303
Influenza Human	Associate	31665046
Leukemia B Cell	Associate	33724365
Leukemia Myeloid	Associate	30046003
Leukemia Myeloid Acute	Associate	30046003, 31306780
Leukoencephalopathies	Associate	33948933
Melanoma	Associate	34032721
Melanoma Cutaneous Malignant	Stimulate	37426410
Mesothelioma	Associate	37556141
Monosomy 7 of Bone Marrow	Associate	29217778, 30046003, 36553623
Multiple System Atrophy	Associate	30046003
Mycoses	Associate	38597819
Myelocerebellar Disorder	Associate	27259050, 31053103, 31306780, 34417303, 36553623, 38594844
Myelodysplastic Syndromes	Associate	28202457, 29217778, 30046003, 31306780, 32770553, 34621053, 35046037
Neoplasms	Inhibit	19358830, 28202457, 35046037, 37158533, 37426410
Neoplasms	Associate	30046003, 33724365
Nervous System Diseases	Associate	36553623
Neural Tube Defects	Associate	31306780
Neurologic Manifestations	Associate	28202457, 33948933
Neutrophilia Hereditary	Associate	34417303
Obesity Morbid	Associate	31306780
Panniculitis	Associate	34417303
Peripheral Nervous System Diseases	Associate	36553623
Polyradiculoneuropathy	Associate	31053103
Respiratory Insufficiency	Associate	33724365
Stomach Neoplasms	Associate	37158533
Tuberculosis Pulmonary	Associate	35720382

SAMD9L (sterile alpha motif domain containing 9 like)