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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4671
Gene name	NLR family apoptosis inhibitory protein
Gene symbol	NAIP
Synonyms (NCBI Gene)	BIRC1NLRB1psiNAIP
Chromosome	5
Chromosome location	5q13.2
Summary	This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005295	hsa-miR-221-3p	Western blot	18759060
MIRT731786	hsa-miR-145-5p	Luciferase reporter assayqRT-PCRWestern blot	26459459
MIRT731786	hsa-miR-145-5p	Luciferase reporter assayqRT-PCRWestern blot	26459459
MIRT731787	hsa-miR-1-3p	Luciferase reporter assayqRT-PCRWestern blot	26459459
MIRT731787	hsa-miR-1-3p	Luciferase reporter assayqRT-PCRWestern blot	26459459
MIRT733059	hsa-miR-4328	Luciferase reporter assayqRT-PCRWestern blotting	31797406
MIRT1173142	hsa-miR-101	CLIP-seq
MIRT1173143	hsa-miR-1266	CLIP-seq
MIRT1173144	hsa-miR-1273f	CLIP-seq
MIRT1173145	hsa-miR-185	CLIP-seq
MIRT1173146	hsa-miR-197	CLIP-seq
MIRT1173147	hsa-miR-219-1-3p	CLIP-seq
MIRT1173148	hsa-miR-3149	CLIP-seq
MIRT1173149	hsa-miR-3170	CLIP-seq
MIRT1173150	hsa-miR-3649	CLIP-seq
MIRT1173151	hsa-miR-3663-5p	CLIP-seq
MIRT1173152	hsa-miR-411	CLIP-seq
MIRT1173153	hsa-miR-4270	CLIP-seq
MIRT1173154	hsa-miR-4306	CLIP-seq
MIRT1173155	hsa-miR-4435	CLIP-seq
MIRT1173156	hsa-miR-4441	CLIP-seq
MIRT1173157	hsa-miR-4499	CLIP-seq
MIRT1173158	hsa-miR-4518	CLIP-seq
MIRT1173159	hsa-miR-4644	CLIP-seq
MIRT1173160	hsa-miR-4678	CLIP-seq
MIRT1173161	hsa-miR-4728-5p	CLIP-seq
MIRT1173162	hsa-miR-4735-5p	CLIP-seq
MIRT1173163	hsa-miR-4755-3p	CLIP-seq
MIRT1173164	hsa-miR-4775	CLIP-seq
MIRT1173165	hsa-miR-5096	CLIP-seq
MIRT1173166	hsa-miR-510	CLIP-seq
MIRT1173167	hsa-miR-512-5p	CLIP-seq
MIRT1173168	hsa-miR-548a-5p	CLIP-seq
MIRT1173169	hsa-miR-548ab	CLIP-seq
MIRT1173170	hsa-miR-548ak	CLIP-seq
MIRT1173171	hsa-miR-548b-5p	CLIP-seq
MIRT1173172	hsa-miR-548c-5p	CLIP-seq
MIRT1173173	hsa-miR-548d-5p	CLIP-seq
MIRT1173174	hsa-miR-548h	CLIP-seq
MIRT1173175	hsa-miR-548i	CLIP-seq
MIRT1173176	hsa-miR-548j	CLIP-seq
MIRT1173177	hsa-miR-548m	CLIP-seq
MIRT1173178	hsa-miR-548n	CLIP-seq
MIRT1173179	hsa-miR-548w	CLIP-seq
MIRT1173180	hsa-miR-548y	CLIP-seq
MIRT1173181	hsa-miR-559	CLIP-seq
MIRT1173182	hsa-miR-590-3p	CLIP-seq
MIRT1173183	hsa-miR-635	CLIP-seq
MIRT1173184	hsa-miR-890	CLIP-seq
MIRT1173185	hsa-miR-1	CLIP-seq
MIRT1173145	hsa-miR-185	CLIP-seq
MIRT1173186	hsa-miR-206	CLIP-seq
MIRT1173187	hsa-miR-3652	CLIP-seq
MIRT1173188	hsa-miR-3673	CLIP-seq
MIRT1173154	hsa-miR-4306	CLIP-seq
MIRT1173189	hsa-miR-4430	CLIP-seq
MIRT1173157	hsa-miR-4499	CLIP-seq
MIRT1173159	hsa-miR-4644	CLIP-seq
MIRT1173168	hsa-miR-548a-5p	CLIP-seq
MIRT1173169	hsa-miR-548ab	CLIP-seq
MIRT1173170	hsa-miR-548ak	CLIP-seq
MIRT1173171	hsa-miR-548b-5p	CLIP-seq
MIRT1173172	hsa-miR-548c-5p	CLIP-seq
MIRT1173173	hsa-miR-548d-5p	CLIP-seq
MIRT1173174	hsa-miR-548h	CLIP-seq
MIRT1173175	hsa-miR-548i	CLIP-seq
MIRT1173176	hsa-miR-548j	CLIP-seq
MIRT1173178	hsa-miR-548n	CLIP-seq
MIRT1173179	hsa-miR-548w	CLIP-seq
MIRT1173180	hsa-miR-548y	CLIP-seq
MIRT1173181	hsa-miR-559	CLIP-seq
MIRT1173190	hsa-miR-566	CLIP-seq
MIRT1173191	hsa-miR-613	CLIP-seq
MIRT1173185	hsa-miR-1	CLIP-seq
MIRT2050167	hsa-miR-106a	CLIP-seq
MIRT2050168	hsa-miR-106b	CLIP-seq
MIRT2050169	hsa-miR-1228	CLIP-seq
MIRT1173144	hsa-miR-1273f	CLIP-seq
MIRT2050170	hsa-miR-1279	CLIP-seq
MIRT2050171	hsa-miR-150	CLIP-seq
MIRT2050172	hsa-miR-17	CLIP-seq
MIRT1173146	hsa-miR-197	CLIP-seq
MIRT1173186	hsa-miR-206	CLIP-seq
MIRT2050173	hsa-miR-20a	CLIP-seq
MIRT2050174	hsa-miR-20b	CLIP-seq
MIRT2050175	hsa-miR-302a	CLIP-seq
MIRT2050176	hsa-miR-302b	CLIP-seq
MIRT2050177	hsa-miR-302c	CLIP-seq
MIRT2050178	hsa-miR-302d	CLIP-seq
MIRT2050179	hsa-miR-302e	CLIP-seq
MIRT2050180	hsa-miR-3130-5p	CLIP-seq
MIRT1173148	hsa-miR-3149	CLIP-seq
MIRT1173149	hsa-miR-3170	CLIP-seq
MIRT1173188	hsa-miR-3673	CLIP-seq
MIRT2050181	hsa-miR-372	CLIP-seq
MIRT2050182	hsa-miR-373	CLIP-seq
MIRT2050183	hsa-miR-3934	CLIP-seq
MIRT1173152	hsa-miR-411	CLIP-seq
MIRT2050184	hsa-miR-4482	CLIP-seq
MIRT2050185	hsa-miR-4707-3p	CLIP-seq
MIRT2050186	hsa-miR-4731-5p	CLIP-seq
MIRT1173162	hsa-miR-4735-5p	CLIP-seq
MIRT1173164	hsa-miR-4775	CLIP-seq
MIRT2050187	hsa-miR-4794	CLIP-seq
MIRT2050188	hsa-miR-5095	CLIP-seq
MIRT1173165	hsa-miR-5096	CLIP-seq
MIRT2050189	hsa-miR-512-3p	CLIP-seq
MIRT2050190	hsa-miR-519d	CLIP-seq
MIRT2050191	hsa-miR-520a-3p	CLIP-seq
MIRT2050192	hsa-miR-520b	CLIP-seq
MIRT2050193	hsa-miR-520c-3p	CLIP-seq
MIRT2050194	hsa-miR-520d-3p	CLIP-seq
MIRT2050195	hsa-miR-520e	CLIP-seq
MIRT2050196	hsa-miR-520g	CLIP-seq
MIRT2050197	hsa-miR-520h	CLIP-seq
MIRT2050198	hsa-miR-552	CLIP-seq
MIRT1173182	hsa-miR-590-3p	CLIP-seq
MIRT1173191	hsa-miR-613	CLIP-seq
MIRT2050199	hsa-miR-93	CLIP-seq
MIRT1173185	hsa-miR-1	CLIP-seq
MIRT2279087	hsa-miR-1182	CLIP-seq
MIRT2279088	hsa-miR-1267	CLIP-seq
MIRT2279089	hsa-miR-1324	CLIP-seq
MIRT2279090	hsa-miR-193a-5p	CLIP-seq
MIRT1173186	hsa-miR-206	CLIP-seq
MIRT1173147	hsa-miR-219-1-3p	CLIP-seq
MIRT2279091	hsa-miR-24	CLIP-seq
MIRT2279092	hsa-miR-3194-3p	CLIP-seq
MIRT1173187	hsa-miR-3652	CLIP-seq
MIRT1173151	hsa-miR-3663-5p	CLIP-seq
MIRT1173188	hsa-miR-3673	CLIP-seq
MIRT2279093	hsa-miR-4284	CLIP-seq
MIRT2279094	hsa-miR-431	CLIP-seq
MIRT2279095	hsa-miR-4423-5p	CLIP-seq
MIRT1173189	hsa-miR-4430	CLIP-seq
MIRT1173155	hsa-miR-4435	CLIP-seq
MIRT2279096	hsa-miR-4532	CLIP-seq
MIRT1173161	hsa-miR-4728-5p	CLIP-seq
MIRT1173163	hsa-miR-4755-3p	CLIP-seq
MIRT2279097	hsa-miR-4772-3p	CLIP-seq
MIRT2279098	hsa-miR-498	CLIP-seq
MIRT1173190	hsa-miR-566	CLIP-seq
MIRT1173191	hsa-miR-613	CLIP-seq
MIRT1173183	hsa-miR-635	CLIP-seq
MIRT1173184	hsa-miR-890	CLIP-seq
MIRT1173185	hsa-miR-1	CLIP-seq
MIRT2279087	hsa-miR-1182	CLIP-seq
MIRT2050169	hsa-miR-1228	CLIP-seq
MIRT2279088	hsa-miR-1267	CLIP-seq
MIRT1173144	hsa-miR-1273f	CLIP-seq
MIRT2279089	hsa-miR-1324	CLIP-seq
MIRT2279090	hsa-miR-193a-5p	CLIP-seq
MIRT1173186	hsa-miR-206	CLIP-seq
MIRT2454825	hsa-miR-3119	CLIP-seq
MIRT1173148	hsa-miR-3149	CLIP-seq
MIRT1173149	hsa-miR-3170	CLIP-seq
MIRT2279092	hsa-miR-3194-3p	CLIP-seq
MIRT1173187	hsa-miR-3652	CLIP-seq
MIRT1173188	hsa-miR-3673	CLIP-seq
MIRT1173152	hsa-miR-411	CLIP-seq
MIRT2279094	hsa-miR-431	CLIP-seq
MIRT2279095	hsa-miR-4423-5p	CLIP-seq
MIRT1173189	hsa-miR-4430	CLIP-seq
MIRT2454826	hsa-miR-4715-3p	CLIP-seq
MIRT1173162	hsa-miR-4735-5p	CLIP-seq
MIRT2454827	hsa-miR-4760-5p	CLIP-seq
MIRT1173164	hsa-miR-4775	CLIP-seq
MIRT2050187	hsa-miR-4794	CLIP-seq
MIRT1173182	hsa-miR-590-3p	CLIP-seq
MIRT1173191	hsa-miR-613	CLIP-seq
MIRT2050169	hsa-miR-1228	CLIP-seq
MIRT1173144	hsa-miR-1273f	CLIP-seq
MIRT1173148	hsa-miR-3149	CLIP-seq
MIRT1173149	hsa-miR-3170	CLIP-seq
MIRT1173152	hsa-miR-411	CLIP-seq
MIRT2454826	hsa-miR-4715-3p	CLIP-seq
MIRT1173162	hsa-miR-4735-5p	CLIP-seq
MIRT1173164	hsa-miR-4775	CLIP-seq
MIRT2050187	hsa-miR-4794	CLIP-seq
MIRT1173182	hsa-miR-590-3p	CLIP-seq
MIRT1173185	hsa-miR-1	CLIP-seq
MIRT2279087	hsa-miR-1182	CLIP-seq
MIRT2577253	hsa-miR-1227	CLIP-seq
MIRT2050169	hsa-miR-1228	CLIP-seq
MIRT2279088	hsa-miR-1267	CLIP-seq
MIRT1173144	hsa-miR-1273f	CLIP-seq
MIRT2279089	hsa-miR-1324	CLIP-seq
MIRT2279090	hsa-miR-193a-5p	CLIP-seq
MIRT1173146	hsa-miR-197	CLIP-seq
MIRT1173186	hsa-miR-206	CLIP-seq
MIRT1173148	hsa-miR-3149	CLIP-seq
MIRT1173149	hsa-miR-3170	CLIP-seq
MIRT2279092	hsa-miR-3194-3p	CLIP-seq
MIRT2577254	hsa-miR-3199	CLIP-seq
MIRT1173187	hsa-miR-3652	CLIP-seq
MIRT1173188	hsa-miR-3673	CLIP-seq
MIRT1173152	hsa-miR-411	CLIP-seq
MIRT2279094	hsa-miR-431	CLIP-seq
MIRT2279095	hsa-miR-4423-5p	CLIP-seq
MIRT1173189	hsa-miR-4430	CLIP-seq
MIRT1173155	hsa-miR-4435	CLIP-seq
MIRT2577255	hsa-miR-4438	CLIP-seq
MIRT2577256	hsa-miR-455-5p	CLIP-seq
MIRT2454826	hsa-miR-4715-3p	CLIP-seq
MIRT1173162	hsa-miR-4735-5p	CLIP-seq
MIRT1173164	hsa-miR-4775	CLIP-seq
MIRT2050187	hsa-miR-4794	CLIP-seq
MIRT2050188	hsa-miR-5095	CLIP-seq
MIRT1173165	hsa-miR-5096	CLIP-seq
MIRT1173182	hsa-miR-590-3p	CLIP-seq
MIRT1173191	hsa-miR-613	CLIP-seq
MIRT1173185	hsa-miR-1	CLIP-seq
MIRT2279087	hsa-miR-1182	CLIP-seq
MIRT2577253	hsa-miR-1227	CLIP-seq
MIRT2050169	hsa-miR-1228	CLIP-seq
MIRT2279088	hsa-miR-1267	CLIP-seq
MIRT1173144	hsa-miR-1273f	CLIP-seq
MIRT2279089	hsa-miR-1324	CLIP-seq
MIRT2279090	hsa-miR-193a-5p	CLIP-seq
MIRT1173146	hsa-miR-197	CLIP-seq
MIRT1173186	hsa-miR-206	CLIP-seq
MIRT1173148	hsa-miR-3149	CLIP-seq
MIRT1173149	hsa-miR-3170	CLIP-seq
MIRT2279092	hsa-miR-3194-3p	CLIP-seq
MIRT2577254	hsa-miR-3199	CLIP-seq
MIRT1173187	hsa-miR-3652	CLIP-seq
MIRT1173188	hsa-miR-3673	CLIP-seq
MIRT1173152	hsa-miR-411	CLIP-seq
MIRT2279094	hsa-miR-431	CLIP-seq
MIRT2279095	hsa-miR-4423-5p	CLIP-seq
MIRT1173189	hsa-miR-4430	CLIP-seq
MIRT2577255	hsa-miR-4438	CLIP-seq
MIRT2577256	hsa-miR-455-5p	CLIP-seq
MIRT2454826	hsa-miR-4715-3p	CLIP-seq
MIRT1173162	hsa-miR-4735-5p	CLIP-seq
MIRT1173164	hsa-miR-4775	CLIP-seq
MIRT2050187	hsa-miR-4794	CLIP-seq
MIRT2050188	hsa-miR-5095	CLIP-seq
MIRT1173165	hsa-miR-5096	CLIP-seq
MIRT1173182	hsa-miR-590-3p	CLIP-seq
MIRT1173191	hsa-miR-613	CLIP-seq

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Transcription factor	Regulation	Reference
TEAD1	Unknown	23994529

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002221	Process	Pattern recognition receptor signaling pathway	NAS	21918512
GO:0002376	Process	Immune system process	IEA
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	11865055, 21371431
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	IMP	21371431
GO:0005737	Component	Cytoplasm	ISS
GO:0005737	Component	Cytoplasm	NAS	24803432
GO:0006915	Process	Apoptotic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007399	Process	Nervous system development	TAS	7813013
GO:0010804	Process	Negative regulation of tumor necrosis factor-mediated signaling pathway	IDA	11865055
GO:0016045	Process	Detection of bacterium	IBA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	NAS	21918512
GO:0042742	Process	Defense response to bacterium	IBA
GO:0042981	Process	Regulation of apoptotic process	IDA	11865055
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043027	Function	Cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	11896143
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043066	Process	Negative regulation of apoptotic process	TAS	8552191
GO:0043524	Process	Negative regulation of neuron apoptotic process	TAS	18414036
GO:0045087	Process	Innate immune response	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IDA	11865055
GO:0046456	Process	Icosanoid biosynthetic process	NAS	22902502
GO:0046872	Function	Metal ion binding	IEA
GO:0050729	Process	Positive regulation of inflammatory response	NAS	21918512
GO:0061702	Component	Canonical inflammasome complex	NAS	25879286
GO:0070269	Process	Pyroptotic inflammatory response	IBA
GO:0070269	Process	Pyroptotic inflammatory response	NAS	26121197
GO:0072557	Component	IPAF inflammasome complex	IBA
GO:0120283	Function	Protein serine/threonine kinase binding	IPI	11865055

MIM	HGNC	e!Ensembl
600355	7634	ENSG00000249437

Q13075

Protein name

Baculoviral IAP repeat-containing protein 1 (Neuronal apoptosis inhibitory protein)

Protein function

Anti-apoptotic protein which acts by inhibiting the activities of CASP3, CASP7 and CASP9. Can inhibit the autocleavage of pro-CASP9 and cleavage of pro-CASP3 by CASP9. Capable of inhibiting CASP9 autoproteolysis at 'Asp-315' and decreasing the r

PDB

2VM5 , 8FVU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00653	BIR	63 → 128	Inhibitor of Apoptosis domain	Domain
PF00653	BIR	162 → 228	Inhibitor of Apoptosis domain	Domain
PF00653	BIR	281 → 346	Inhibitor of Apoptosis domain	Domain
PF05729	NACHT	464 → 618	NACHT domain	Domain
PF17779	NOD2_WH	687 → 742	NOD2 winged helix domain	Domain
PF17889	NLRC4_HD	766 → 872	NLRC4 helical domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in motor neurons, but not in sensory neurons. Found in liver and placenta, and to a lesser extent in spinal cord.

Sequence

MATQQKASDERISQFDHNLLPELSALLGLDAVQLAKELEEEEQKERAKMQKGYNSQMRSE
AKRLKTFVTYEPYSSWIPQEMAAAGFYFTGVKSGIQCFCCSLILFGAGLTRLPIEDHKRF
HPDCGFLLNKDVGNIAKYDIRVKNLKSRLRGGKMRYQEEEARLASFRNWPFYVQGISPCV
LSEAGFVFTGKQDTVQCFSCGGCLGNWEEGDDPWKEHAKWFPKCEFLRSKKSSEEITQYI
QSYKGFVDITGEHFVNSWVQRELPMASAYCNDSIFAYEELRLDSFKDWPRESAVGVAALA
KAGLFYTGIKDIVQCFSCGGCLEKWQEGDDPLDDHTRCFPNCPFLQNMKSSAEVTPDLQS
RGELCELLETTSESNLEDSIAVGPIVPEMAQGEAQWFQEAKNLNEQLRAAYTSASFRHMS
LLDISSDLATDHLLGCDLSIASKHISKPVQEPLVLPEVFGNLNSVMCVEGEAGSGKTVLL
KKIAFLWASGCCPLLNRFQLVFYLSLSSTRPDEGLASIICDQLLEKEGSVTEMCVRNIIQ
QLKNQVLFLLDDYKEICSIPQVIGKLIQKNHLSRTCLLIAVRTNRARDIRRYLETILEIK
AFPFYNTVCILRKLFSHNMTRLRKFMVYFGKNQSLQKIQKTPLFVAAICAHWFQYPFDPS
FDDVAVFKSYMERLSLRNKATAEILKATVSSCGELALKGFFSCCFEFNDDDLAEAGVDED
EDLTMCLMSKFTAQRLRPFYRFLSPAFQEFLAGMRLIELLDSDRQEHQDLGLYHLKQINS
PMMTVSAYNNFLNYVSSLPSTKAGPKIVSHLLHLVDNKESLENISENDDYLKHQPEISLQ
MQLLRGLWQICPQAYFSMVSEHLLVLALKTAYQSNTVAACSPFVLQFLQGRTLTLGALNL
QYFFDHPESLSLLRSIHFPIRGNKTSPRAHFSVLETCFDKSQVPTIDQDYASAFEPMNEW
ERNLAEKEDNVKSYMDMQRRASPDLSTGYWKLSPKQYKIPCLEVDVNDIDVVGQDMLEIL
MTVFSASQRIELHLNHSRGFIESIRPALELSKASVTKCSISKLELSAAEQELLLTLPSLE
SLEVSGTIQSQDQIFPNLDKFLCLKELSVDLEGNINVFSVIPEEFPNFHHMEKLLIQISA
EYDPSKLVKLIQNSPNLHVFHLKCNFFSDFGSLMTMLVSCKKLTEIKFSDSFFQAVPFVA
SLPNFISLKILNLEGQQFPDEETSEKFAYILGSLSNLEELILPTGDGIYRVAKLIIQQCQ
QLHCLRVLSFFKTLNDDSVVEIAKVAISGGFQKLENLKLSINHKITEEGYRNFFQALDNM
PNLQELDISRHFTECIKAQATTVKSLSQCVLRLPRLIRLNMLSWLLDADDIALLNVMKER
HPQSKYLTILQKWILPFSPIIQK

Sequence length

1403

Interactions

View interactions

	KEGG
	NOD-like receptor signaling pathway Pathogenic Escherichia coli infection Shigellosis Salmonella infection Legionellosis

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 Unknown Diseases (4)

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.
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 2	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, INFANTILE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (64)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	15138717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17292615	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10369311, 10683821, 29311650, 8651652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	9748047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21331694		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	18367492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	28327526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26282902, 28888400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17923748, 28337296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17923748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26282902, 28888400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	17292615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26459459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	26282902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	37873933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36329882	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	11417611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	LHGDN	18339188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18759060		★★★★★ ★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	10411975, 9378898, 9748047		★★★★★ ★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	ORPHANET_DG	11912351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19686238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	11266116, 11912351, 18533950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	17292615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	37267294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Spinal Muscular Atrophy	Spinal Muscular Atrophy	ORPHANET_DG	11912351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	19198020		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12127562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	11397650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17923748, 28337296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20044205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26282902, 28888400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15126108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26459459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17923748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	10683821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	9073029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	20015095	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	11397650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24987674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18566024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18566024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	10719817, 11266116, 11912351, 11924116, 14676483, 16936383, 17932457, 18071605, 18533950, 18974562, 19198020, 21971302, 22824686, 25888055, 27534852 View all (12 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular atrophy, spinal, infantile chronic form	Spinal Muscular Atrophy	ORPHANET_DG	11912351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy, Spinal, Type II	Spinal Muscular Atrophy	ORPHANET_DG	11912351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17923748, 26459459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	18974562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	18533950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	12654964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	12654964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20044205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	20078866, 28327526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20044205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proximal spinal muscular atrophy type 1	Proximal spinal muscular atrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proximal spinal muscular atrophy type 2	Proximal spinal muscular atrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proximal spinal muscular atrophy type 3	Proximal spinal muscular atrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	11266116, 11924116, 12646976, 18071605, 7813013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal Muscular Atrophy	LHGDN	11912351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	7573039	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	10206524, 10369311, 10640764, 10683821, 10686493, 10686495, 10719817, 10764048, 11205144, 11287750, 11397650, 11921836, 12001651, 14578966, 15119481 View all (40 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	LHGDN	17903057, 17932457, 18842367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28888400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	21331694		★★★★★ ★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	21331694		★★★★★ ★☆☆☆☆ Found in Text Mining only

NAIP (NLR family apoptosis inhibitory protein)