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

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs1792226793	RCV001261385	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
interferonopathy	Likely pathogenic	rs2116486108	RCV001543402	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monosomy 7 myelodysplasia and leukemia syndrome 1	Likely pathogenic; Pathogenic	rs2116467712, rs2116506727, rs878855336, rs1554341158, rs1792140365	RCV001775457 RCV001808162 RCV001270307 RCV001270308 RCV001270310	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SAMD9L-related disorder	Likely pathogenic; Pathogenic	rs2535423064, rs878855336	RCV003155679 RCV004737387	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

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.
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary ciliary dyskinesia 12	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAMD9L-ASSOCIATED AUTOINFLAMMATORY SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAMD9L-RELATED SPECTRUM AND MYELOID NEOPLASM RISK	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 49	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPINOCEREBELLAR ATAXIA TYPE 49	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (70)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	34417303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	34417303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	36012751, 36499545, 38597819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia-pancytopenia syndrome	Ataxia-Pancytopenia Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	8609731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	31306780, 38597819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Neoplasms	Bone neoplasm	Pubtator	38597819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25076857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	29535429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	8609731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Bone Marrow Failure Syndromes	Congenital bone marrow failure syndrome	Pubtator	29146883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35046037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse alveolar hemorrhage	Diffuse alveolar hemorrhage	BEFREE	31306780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibromyxosarcoma	Fibromyxosarcoma	BEFREE	11425453		★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	28202457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	36012751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	28202457, 31053103, 31306780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	27259050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	29535429, 31306780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	31306780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	25076857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic anemia	Hypoplastic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	33724365, 34621053, 36499545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31040655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	30046003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30046003, 31306780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16424870, 16573742, 21685371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25076857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	23740937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	23611359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	8609731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant lymphoma - lymphocytic, intermediate differentiation	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	8609731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	8609731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24029230, 30046003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	8609731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	8609731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34032721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	37426410	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	37556141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	30971808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	30046003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelocerebellar Disorder	Myelocerebellar Disorder	BEFREE	27259050, 31053103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelocerebellar Disorder	Myelocerebellar Disorder	GENOMICS_ENGLAND_DG	27259050, 28202457, 28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelocerebellar Disorder	Myelocerebellar Disorder	UNIPROT_DG	27259050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelocerebellar Disorder	Myelocerebellar Disorder	CLINVAR_DG	27259050, 28202457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelocerebellar Disorder	Myelocerebellar Disorder	ORPHANET_DG	27259050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelocerebellar Disorder	Myelocerebellar Disorder	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	29146900, 31306780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	28202457, 29217778, 30046003, 31306780, 32770553, 34621053, 35046037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21685371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	36553623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	31306780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	29535429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	31306780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	27259050, 31306780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	Pubtator	34417303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	36553623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	22887079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37158533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASCAT_DG	23740937		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASDB_DG	23740937		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SAMD9L (sterile alpha motif domain containing 9 like)