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	54809
Gene name	Sterile alpha motif domain containing 9
Gene symbol	SAMD9
Synonyms (NCBI Gene)	C7orf5DRIF1M7MLS2MIRAGENFTCOEF1OEF2
Chromosome	7
Chromosome location	7q21.2
Summary	This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumora

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918554	T>C	Pathogenic	Missense variant, coding sequence variant
rs201122403	A>G	Likely-pathogenic	Initiator codon variant, missense variant
rs572380130	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, synonymous variant
rs753146043	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064795431	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1186536794	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1554336974	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554336981	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554337067	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554337424	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584251663	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584251938	G>A	Pathogenic	Missense variant, coding sequence variant
rs1584252276	GCCTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584253343	C>T	Pathogenic	Missense variant, coding sequence variant
rs1584253388	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584254152	C>T	Pathogenic	Missense variant, coding sequence variant
rs1584254471	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

132

Show/Hide all (132)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028548	hsa-miR-30a-5p	Proteomics	18668040
MIRT1325636	hsa-miR-2053	CLIP-seq
MIRT1325637	hsa-miR-219-2-3p	CLIP-seq
MIRT1325638	hsa-miR-2964a-3p	CLIP-seq
MIRT1325639	hsa-miR-3156-5p	CLIP-seq
MIRT1325640	hsa-miR-3663-5p	CLIP-seq
MIRT1325641	hsa-miR-3667-3p	CLIP-seq
MIRT1325642	hsa-miR-3682-3p	CLIP-seq
MIRT1325643	hsa-miR-4452	CLIP-seq
MIRT1325644	hsa-miR-4677-3p	CLIP-seq
MIRT1325645	hsa-miR-4679	CLIP-seq
MIRT1325646	hsa-miR-4686	CLIP-seq
MIRT1325647	hsa-miR-483-3p	CLIP-seq
MIRT1325648	hsa-miR-518a-5p	CLIP-seq
MIRT1325649	hsa-miR-520a-5p	CLIP-seq
MIRT1325650	hsa-miR-525-5p	CLIP-seq
MIRT1325651	hsa-miR-527	CLIP-seq
MIRT1325652	hsa-miR-569	CLIP-seq
MIRT2096583	hsa-miR-3182	CLIP-seq
MIRT2096584	hsa-miR-4699-3p	CLIP-seq
MIRT2096585	hsa-miR-4729	CLIP-seq
MIRT2096586	hsa-miR-520d-5p	CLIP-seq
MIRT2096587	hsa-miR-524-5p	CLIP-seq
MIRT2096588	hsa-miR-616	CLIP-seq
MIRT2616870	hsa-miR-103b	CLIP-seq
MIRT2616871	hsa-miR-1231	CLIP-seq
MIRT2616872	hsa-miR-1278	CLIP-seq
MIRT2616873	hsa-miR-129-5p	CLIP-seq
MIRT2616874	hsa-miR-1302	CLIP-seq
MIRT1325636	hsa-miR-2053	CLIP-seq
MIRT2616875	hsa-miR-23a	CLIP-seq
MIRT2616876	hsa-miR-23b	CLIP-seq
MIRT2616877	hsa-miR-23c	CLIP-seq
MIRT2616878	hsa-miR-3122	CLIP-seq
MIRT2616879	hsa-miR-3125	CLIP-seq
MIRT2616880	hsa-miR-3161	CLIP-seq
MIRT2616881	hsa-miR-337-3p	CLIP-seq
MIRT2616882	hsa-miR-361-5p	CLIP-seq
MIRT2616883	hsa-miR-3647-3p	CLIP-seq
MIRT2616884	hsa-miR-3658	CLIP-seq
MIRT1325640	hsa-miR-3663-5p	CLIP-seq
MIRT1325641	hsa-miR-3667-3p	CLIP-seq
MIRT2616885	hsa-miR-3674	CLIP-seq
MIRT1325642	hsa-miR-3682-3p	CLIP-seq
MIRT2616886	hsa-miR-3913-5p	CLIP-seq
MIRT2616887	hsa-miR-3916	CLIP-seq
MIRT2616888	hsa-miR-3925-3p	CLIP-seq
MIRT2616889	hsa-miR-409-3p	CLIP-seq
MIRT2616890	hsa-miR-4263	CLIP-seq
MIRT2616891	hsa-miR-4268	CLIP-seq
MIRT2616892	hsa-miR-4282	CLIP-seq
MIRT2616893	hsa-miR-4298	CLIP-seq
MIRT2616894	hsa-miR-4307	CLIP-seq
MIRT2616895	hsa-miR-4328	CLIP-seq
MIRT2616896	hsa-miR-4422	CLIP-seq
MIRT2616897	hsa-miR-4446-5p	CLIP-seq
MIRT2616898	hsa-miR-4448	CLIP-seq
MIRT2616899	hsa-miR-4645-5p	CLIP-seq
MIRT2616900	hsa-miR-4673	CLIP-seq
MIRT1325644	hsa-miR-4677-3p	CLIP-seq
MIRT1325645	hsa-miR-4679	CLIP-seq
MIRT1325646	hsa-miR-4686	CLIP-seq
MIRT2616901	hsa-miR-4795-3p	CLIP-seq
MIRT2616902	hsa-miR-4799-5p	CLIP-seq
MIRT1325647	hsa-miR-483-3p	CLIP-seq
MIRT2616903	hsa-miR-508-5p	CLIP-seq
MIRT2616904	hsa-miR-5096	CLIP-seq
MIRT2616905	hsa-miR-511	CLIP-seq
MIRT2616906	hsa-miR-513a-3p	CLIP-seq
MIRT2616907	hsa-miR-539	CLIP-seq
MIRT1325652	hsa-miR-569	CLIP-seq
MIRT2616908	hsa-miR-576-5p	CLIP-seq
MIRT2616909	hsa-miR-580	CLIP-seq
MIRT2616910	hsa-miR-605	CLIP-seq
MIRT2616911	hsa-miR-607	CLIP-seq
MIRT2616912	hsa-miR-626	CLIP-seq
MIRT2616913	hsa-miR-654-3p	CLIP-seq
MIRT2616914	hsa-miR-885-5p	CLIP-seq
MIRT2616915	hsa-miR-889	CLIP-seq
MIRT2616870	hsa-miR-103b	CLIP-seq
MIRT2616871	hsa-miR-1231	CLIP-seq
MIRT2616872	hsa-miR-1278	CLIP-seq
MIRT2616873	hsa-miR-129-5p	CLIP-seq
MIRT2616874	hsa-miR-1302	CLIP-seq
MIRT1325636	hsa-miR-2053	CLIP-seq
MIRT2616875	hsa-miR-23a	CLIP-seq
MIRT2616876	hsa-miR-23b	CLIP-seq
MIRT2616877	hsa-miR-23c	CLIP-seq
MIRT2616878	hsa-miR-3122	CLIP-seq
MIRT2616880	hsa-miR-3161	CLIP-seq
MIRT2616881	hsa-miR-337-3p	CLIP-seq
MIRT2616882	hsa-miR-361-5p	CLIP-seq
MIRT2616883	hsa-miR-3647-3p	CLIP-seq
MIRT1325640	hsa-miR-3663-5p	CLIP-seq
MIRT1325641	hsa-miR-3667-3p	CLIP-seq
MIRT2616885	hsa-miR-3674	CLIP-seq
MIRT1325642	hsa-miR-3682-3p	CLIP-seq
MIRT2616886	hsa-miR-3913-5p	CLIP-seq
MIRT2616888	hsa-miR-3925-3p	CLIP-seq
MIRT2616889	hsa-miR-409-3p	CLIP-seq
MIRT2616890	hsa-miR-4263	CLIP-seq
MIRT2616891	hsa-miR-4268	CLIP-seq
MIRT2616892	hsa-miR-4282	CLIP-seq
MIRT2616893	hsa-miR-4298	CLIP-seq
MIRT2616894	hsa-miR-4307	CLIP-seq
MIRT2616895	hsa-miR-4328	CLIP-seq
MIRT2690193	hsa-miR-4419a	CLIP-seq
MIRT2616896	hsa-miR-4422	CLIP-seq
MIRT2616898	hsa-miR-4448	CLIP-seq
MIRT2690194	hsa-miR-4510	CLIP-seq
MIRT2616899	hsa-miR-4645-5p	CLIP-seq
MIRT2616900	hsa-miR-4673	CLIP-seq
MIRT1325644	hsa-miR-4677-3p	CLIP-seq
MIRT1325645	hsa-miR-4679	CLIP-seq
MIRT1325646	hsa-miR-4686	CLIP-seq
MIRT2616901	hsa-miR-4795-3p	CLIP-seq
MIRT2616902	hsa-miR-4799-5p	CLIP-seq
MIRT1325647	hsa-miR-483-3p	CLIP-seq
MIRT2616903	hsa-miR-508-5p	CLIP-seq
MIRT2616904	hsa-miR-5096	CLIP-seq
MIRT2616905	hsa-miR-511	CLIP-seq
MIRT2616906	hsa-miR-513a-3p	CLIP-seq
MIRT2616907	hsa-miR-539	CLIP-seq
MIRT1325652	hsa-miR-569	CLIP-seq
MIRT2616908	hsa-miR-576-5p	CLIP-seq
MIRT2616909	hsa-miR-580	CLIP-seq
MIRT2616910	hsa-miR-605	CLIP-seq
MIRT2616911	hsa-miR-607	CLIP-seq
MIRT2616912	hsa-miR-626	CLIP-seq
MIRT2616913	hsa-miR-654-3p	CLIP-seq
MIRT2616914	hsa-miR-885-5p	CLIP-seq
MIRT2616915	hsa-miR-889	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	24029230
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16960814
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0034058	Process	Endosomal vesicle fusion	IDA	24029230
GO:0045087	Process	Innate immune response	IEA

MIM	HGNC	e!Ensembl
610456	1348	ENSG00000205413

Q5K651

Protein name

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

Protein function

Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules (PubMed:25428864, PubMed:28157624). May play a role in the inflammatory response to tissue inju

PDB

7KSP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07647	SAM_2	11 → 66	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Very low levels are detected in skeletal muscle. Not detected in brain. Down-regulated in aggressive fibromatosis, as well as in breast and colon cancers. Up-regulated in fibroblasts from patients with normophosphatem

Sequence

MAKQLNLPENTDDWTKEDVNQWLESHKIDQKHREILTEQDVNGAVLKWLKKEHLVDMGIT
HGPAIQIEELFKELRKTAIEDSIQTSKMGKPSKNAPKDQTVSQKERRETSKQKQKGKENP
DMANPSAMSTTAKGSKSLKVELIEDKIDYTKERQPSIDLTCVSYPFDEFSNPYRYKLDFS
LQPETGPGNLIDPIHEFKAFTNTATATEEDVKMKFSNEVFRFASACMNSRTNGTIHFGVK
DKPHGKIVGIKVTNDTKEALINHFNLMINKYFEDHQVQQAKKCIREPRFVEVLLPNSTLS
DRFVIEVDIIPQFSECQYDYFQIKMQNYNNKIWEQSKKFSLFVRDGTSSKDITKNKVDFR
AFKADFKTLAESRKAAEEKFRAKTNKKEREGPKLVKLLTGNQDLLDNSYYEQYILVTNKC
HPDQTKHLDFLKEIKWFAVLEFDPESNINGVVKAYKESRVANLHFPSVYVEQKTTPNETI
STLNLYHQPSWIFCNGRLDLDSEKYKPFDPSSWQRERASDVRKLISFLTHEDIMPRGKFL
VVFLLLSSVDDPRDPLIETFCAFYQDLKGMENILCICVHPHIFQGWKDLLEARLIKHQDE
ISSQCISALSLEEINGTILKLKSVTQSSKRLLPSIGLSTVLLKKEEDIMTALEIICENEC
EGTLLEKDKNKFLEFKASKEEDFYRGGKVSWWNFYFSSESYSSPFVKRDKYERLEAMIQN
CADSSKPTSTKIIHLYHHPGCGGTTLAMHILWELRKKFRCAVLKNKTVDFSEIGEQVTSL
ITYGAMNRQEYVPVLLLVDDFEEQDNVYLLQYSIQTAIAKKYIRYEKPLVIILNCMRSQN
PEKSARIPDSIAVIQQLSPKEQRAFELKLKEIKEQHKNFEDFYSFMIMKTNFNKEYIENV
VRNILKGQNIFTKEAKLFSFLALLNSYVPDTTISLSQCEKFLGIGNKKAFWGTEKFEDKM
GTYSTILIKTEVIECGNYCGVRIIHSLIAEFSLEELKKSYHLNKSQIMLDMLTENLFFDT
GMGKSKFLQDMHTLLLTRHRDEHEGETGNWFSPFIEALHKDEGNEAVEAVLLESIHRFNP
NAFICQALARHFYIKKKDFGNALNWAKQAKIIEPDNSYISDTLGQVYKSKIRWWIEENGG
NGNISVDDLIALLDLAEHASSAFKESQQQSEDREYEVKERLYPKSKRRYDTYNIAGYQGE
IEVGLYTIQILQLIPFFDNKNELSKRYMVNFVSGSSDIPGDPNNEYKLALKNYIPYLTKL
KFSLKKSFDFFDEYFVLLKPRNNIKQNEEAKTRRKVAGYFKKYVDIFCLLEESQNNTGLG
SKFSEPLQVERCRRNLVALKADKFSGLLEYLIKSQEDAISTMKCIVNEYTFLLEQCTVKI
QSKEKLNFILANIILSCIQPTSRLVKPVEKLKDQLREVLQPIGLTYQFSEPYFLASLLFW
PENQQLDQHSEQMKEYAQALKNSFKGQYKHMHRTKQPIAYFFLGKGKRLERLVHKGKIDQ
CFKKTPDINSLWQSGDVWKEEKVQELLLRLQGRAENNCLYIEYGINEKITIPITPAFLGQ
LRSGRSIEKVSFYLGFSIGGPLAYDIEIV

Sequence length

1589

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
Hereditary cancer-predisposing syndrome	Likely pathogenic	rs2535353132	RCV005601917	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MIRAGE syndrome	Likely pathogenic; Pathogenic	rs1791570014, rs1435946172, rs2535358325, rs2535352584, rs1584254152, rs1584253343, rs1584251938, rs2535352835, rs2535357784, rs2535361498, rs2535359490, rs2535358818, rs1064795431, rs1554336981, rs1554336974, rs1584253388, rs1247438528 View all (2 more)	RCV001330969 RCV001843938 RCV002466797 RCV003148091 RCV000239546 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monosomy 7 myelodysplasia and leukemia syndrome 2	Likely pathogenic; Pathogenic	rs2535353132, rs1247438528, rs759775100, rs1791586314	RCV002470231 RCV003989666 RCV001270305 RCV001270306	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Normophosphatemic familial tumoral calcinosis	Pathogenic; Likely pathogenic	rs121918554, rs1554337424, rs1247438528	RCV000001288 RCV000672720 RCV005038023	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SAMD9-related disorder	Pathogenic; Likely pathogenic	rs1435946172, rs1247438528	RCV004552049 RCV004548112	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27-altered	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAMD9-RELATED SPECTRUM AND MYELOID NEOPLASM RISK	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROGENITAL ABNORMALITIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (101)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	30403727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	31610036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	30403727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	36060959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16960814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16960814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	16960814	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17507861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16960814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	16960814	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	17507861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	28346228, 31306780, 31620126, 32054657, 38597819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	16960814, 21160498, 26901061	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39511689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	37745698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	19064752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17407603, 25450373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Bone Marrow Failure Syndromes	Congenital bone marrow failure syndrome	Pubtator	29146883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	36087523	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	31638924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	31638924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35046037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	30403727, 36060959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	37745698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	30403727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	30403727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial normophosphatemic tumoral calcinosis	Normophosphatemic Tumoral Calcinosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	17407603, 25450373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	31620126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	31620126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31646435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33936093, 34815785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	36060959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	31306780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	29535429, 31306780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	36060959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	36060959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	36060959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	CTD_human_DG	27182967		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Diseases	Intestinal Diseases	BEFREE	29266745, 31620126		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	BEFREE	31610036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	30046003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30046003, 36087523, 37160314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	19358830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	36060959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19830690, 21248034, 28157624, 30046003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17407603, 25450373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	19865099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MIRAGE syndrome	Mirage Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	16960814, 18094730, 24029230, 27182967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	30046003, 36060959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	29266745, 31572304		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG	27182967		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	29266745, 29438960, 29615405, 30565860, 31306780, 31572304		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	28346228, 30046003, 31306780, 32770553, 34621053, 35046037, 36087523, 37160314	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myxoma	Myxoma	BEFREE	21248034, 28157624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	BEFREE	30403727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17407603, 19358830, 25450373, 30715670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	32787808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	31306780, 39276527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	31620126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25450373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	29535429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	31306780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	28346228, 31306780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Refractory anemias	Anemia	BEFREE	30715670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30715670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	31620126, 31638924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	30403727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	21160498	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thiamine responsive megaloblastic anemia syndrome	Thiamine-responsive megaloblastic anemia	Pubtator	31638924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	34659124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia Neonatal Alloimmune	Thrombocytopenia	Pubtator	30403727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	BEFREE	16960814, 17407603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumoral Calcinosis Hyperphosphatemic Familial	Tumoral calcinosis	Pubtator	16960814	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumoral Calcinosis Normophosphatemic Familial	Tumoral calcinosis	Pubtator	16960814, 18094730, 19865099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumoral Calcinosis Normophosphatemic Familial	Tumoral calcinosis	Pubtator	21160498	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumoral Calcinosis, Normophosphatemic, Familial	Tumoral calcinosis	ORPHANET_DG	16960814, 18094730		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tumoral Calcinosis, Normophosphatemic, Familial	Tumoral calcinosis	GENOMICS_ENGLAND_DG	16960814		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tumoral Calcinosis, Normophosphatemic, Familial	Tumoral calcinosis	UNIPROT_DG	16960814, 18094730		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tumoral Calcinosis, Normophosphatemic, Familial	Tumoral calcinosis	CLINVAR_DG	28346228		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tumoral Calcinosis, Normophosphatemic, Familial	Tumoral calcinosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urogenital Abnormalities	Urogenital Abnormalities	CTD_human_DG	27182967		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vertical Talus	Vertical Talus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SAMD9 (sterile alpha motif domain containing 9)