PSEN2 (presenilin 2)

Gene

• Entrez ID: 5664
• Gene name: Presenilin 2
• Gene symbol: PSEN2
• Synonyms (NCBI Gene): AD3L, AD4, CMD1V, PS2, STM2
• Chromosome: 1
• Chromosome location: 1q42.13
• Summary: Alzheimer`s disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936379	A>C,G,T	Pathogenic, not-provided	Coding sequence variant, missense variant, non coding transcript variant
rs28936380	C>G,T	Pathogenic, not-provided	Coding sequence variant, missense variant, non coding transcript variant
rs63749851	A>C	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs63749884	G>A	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs63750048	C>T	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs63750110	A>C	Uncertain-significance, pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs63750197	C>T	Likely-benign, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs63750215	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs63750666	C>T	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs143912759	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs145010538	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs188598190	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200610057	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs202178897	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs866044092	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1553268799	TGA>-	Likely-pathogenic	Intron variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1269617	hsa-miR-3163	CLIP-seq
MIRT1269618	hsa-miR-4484	CLIP-seq
MIRT1269619	hsa-miR-548an	CLIP-seq
MIRT1269620	hsa-miR-1276	CLIP-seq
MIRT1269621	hsa-miR-183	CLIP-seq
MIRT1269622	hsa-miR-30a	CLIP-seq
MIRT1269623	hsa-miR-30b	CLIP-seq
MIRT1269624	hsa-miR-30c	CLIP-seq
MIRT1269625	hsa-miR-30d	CLIP-seq
MIRT1269626	hsa-miR-30e	CLIP-seq
MIRT1269627	hsa-miR-3663-3p	CLIP-seq
MIRT1269628	hsa-miR-4487	CLIP-seq
MIRT1269629	hsa-miR-4726-3p	CLIP-seq
MIRT1269630	hsa-miR-4727-5p	CLIP-seq
MIRT1269631	hsa-miR-4755-3p	CLIP-seq
MIRT1269632	hsa-miR-548a-3p	CLIP-seq
MIRT1269633	hsa-miR-548e	CLIP-seq
MIRT1269634	hsa-miR-548f	CLIP-seq
MIRT1269635	hsa-miR-764	CLIP-seq
MIRT2079248	hsa-miR-134	CLIP-seq
MIRT2079249	hsa-miR-3118	CLIP-seq
MIRT2079250	hsa-miR-3164	CLIP-seq
MIRT2079251	hsa-miR-4302	CLIP-seq
MIRT2079252	hsa-miR-4519	CLIP-seq
MIRT2079253	hsa-miR-4530	CLIP-seq
MIRT2079254	hsa-miR-4700-3p	CLIP-seq
MIRT2079255	hsa-miR-4773	CLIP-seq
MIRT2457303	hsa-miR-3183	CLIP-seq
MIRT1269627	hsa-miR-3663-3p	CLIP-seq
MIRT2457304	hsa-miR-3925-3p	CLIP-seq
MIRT2457305	hsa-miR-4723-3p	CLIP-seq
MIRT1269629	hsa-miR-4726-3p	CLIP-seq
MIRT1269635	hsa-miR-764	CLIP-seq
MIRT2457306	hsa-miR-766	CLIP-seq
MIRT1269622	hsa-miR-30a	CLIP-seq
MIRT1269623	hsa-miR-30b	CLIP-seq
MIRT1269624	hsa-miR-30c	CLIP-seq
MIRT1269625	hsa-miR-30d	CLIP-seq
MIRT1269626	hsa-miR-30e	CLIP-seq
MIRT1269620	hsa-miR-1276	CLIP-seq
MIRT1269622	hsa-miR-30a	CLIP-seq
MIRT1269623	hsa-miR-30b	CLIP-seq
MIRT1269624	hsa-miR-30c	CLIP-seq
MIRT1269625	hsa-miR-30d	CLIP-seq
MIRT1269626	hsa-miR-30e	CLIP-seq
MIRT2688821	hsa-miR-4477b	CLIP-seq
MIRT1269628	hsa-miR-4487	CLIP-seq
MIRT1269630	hsa-miR-4727-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Unknown	14585504

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000776	Component	Kinetochore	IDA	9298903
GO:0000776	Component	Kinetochore	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0005515	Function	Protein binding	IPI	9223340, 10366599, 10748169, 12297508, 21163940, 32814053
GO:0005637	Component	Nuclear inner membrane	IDA	9298903
GO:0005769	Component	Early endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	15274632
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	15274632
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	9298903
GO:0005886	Component	Plasma membrane	IDA	15274632
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IBA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IDA	15274632
GO:0006509	Process	Membrane protein ectodomain proteolysis	IEA
GO:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007220	Process	Notch receptor processing	IEA
GO:0007220	Process	Notch receptor processing	TAS	15274632
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IBA
GO:0016485	Process	Protein processing	IDA	15274632, 27608597
GO:0016485	Process	Protein processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0032991	Component	Protein-containing complex	IDA	9632714
GO:0034205	Process	Amyloid-beta formation	IBA
GO:0034205	Process	Amyloid-beta formation	IDA	27608597
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IBA
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042987	Process	Amyloid precursor protein catabolic process	IDA	27608597
GO:0042987	Process	Amyloid precursor protein catabolic process	IEA
GO:0042987	Process	Amyloid precursor protein catabolic process	TAS	15274632
GO:0055074	Process	Calcium ion homeostasis	IBA
GO:0070765	Component	Gamma-secretase complex	IBA
GO:0070765	Component	Gamma-secretase complex	IDA	12297508
GO:0097060	Component	Synaptic membrane	IEA
GO:0110097	Process	Regulation of calcium import into the mitochondrion	IMP	21285369
GO:1990456	Process	Mitochondrion-endoplasmic reticulum membrane tethering	IMP	21285369

Other IDs

• MIM: 600759
• HGNC: 9509
• e!Ensembl: ENSG00000143801

Protein

• UniProt ID: P49810
• Protein name: Presenilin-2 (PS-2) (EC 3.4.23.-) (AD3LP) (AD5) (E5-1) (STM-2) [Cleaved into: Presenilin-2 NTF subunit; Presenilin-2 CTF subunit]
• Protein function: Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Requires the other membe
• PDB: 7Y5X, 7Y5Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01080	Presenilin	82 → 330	Presenilin	Family
  PF01080	Presenilin	319 → 438	Presenilin	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney. {ECO:0000269|PubMed:8574969}.
• Sequence:

  MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQENEEDGEEDP
  DRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMIVVVATIKSVRFYTEKNGQLI
  YTPFTEDTPSVGQRLLNSVLNTLIMISVIVVMTIFLVVLYKYRCYKFIHGWLIMSSLMLL
  FLFTYIYLGEVLKTYNVAMDYPTLLLTVWNFGAVGMVCIHWKGPLVLQQAYLIMISALMA
  LVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIFPALIYSSAMVW
  TVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGEELEEEEERGV
  KLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIGLCLTLLLLAVFKKALPALPISI
  TFGLIFYFSTDNLVRPFMDTLASHQLYI

• Sequence length: 448

Pathways

KEGG:

Notch signaling pathway
Neurotrophin signaling pathway
Alzheimer disease
Pathways of neurodegeneration - multiple diseases

Reactome:

Nuclear signaling by ERBB4
Regulated proteolysis of p75NTR
NRIF signals cell death from the nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
EPH-ephrin mediated repulsion of cells
NOTCH3 Activation and Transmission of Signal to the Nucleus
Noncanonical activation of NOTCH3

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Alzheimer disease 4	Pathogenic; Likely pathogenic	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs1553268799	RCV000009393 RCV000009394 RCV000009397 RCV000009398 RCV000009399 RCV000009402 RCV000552294	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer disease	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE TYPE 4	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIA NEONATORUM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1V	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1V	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset autosomal dominant Alzheimer disease	Likely benign	ClinVar CTD, Orphanet CTD, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL ALZHEIMER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington disease-like syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEN2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	12925374, 16651627, 9050898		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18283638		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	2311759		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	10349860, 10366599, 10393846, 10404513, 10409650, 10595683, 10620705, 10652366, 10880397, 11126197, 12754354, 15009634, 15492223, 15569262, 15685448, 15975090, 16033913, 16199521, 16371011, 16533963, 17186461, 17314098, 17903177, 18387709, 18437002, 18667258, 20194618, 20333730, 20375137, 20393312, 20457965, 21034535, 21285369, 21411544, 21816272, 22153900, 22166940, 22267728, 22459598, 22503161, 22702962, 23085935, 23183136, 23379308, 23884042, 23902769, 23990795, 24219606, 24363250, 24463146, 24880964, 24885952, 25104557, 25639959, 26139022, 26242991, 26573292, 26888304, 27206484, 27901073, 28008242, 28049728, 28106563, 28243073, 28350801, 28738127, 28749476, 28798312, 28949931, 29045054, 29078389, 29078805, 29141208, 29156377, 29175279, 29182052, 29269939, 29397305, 29476165, 29579160, 29661148, 29880032, 29945658, 30021643, 30045758, 30104866, 30114415, 30549411, 30634129, 30704603, 30822648, 31020001, 31165862, 31182772, 31416668, 31557888, 31861093, 32087291, 32106535, 32977230, 33006056, 33023779, 33188256, 33213512, 33413468, 33440141, 33678657, 33973882, 34067945, 34088008, 34102969, 34319632, 34440738, 34444269, 34634760, 34948396, 34987110, 35065037, 35120450, 35226190, 35246267, 35328387, 35449212, 35491795, 35752680, 35949106, 36120786, 36175824, 36217304, 36251323, 36362122, 36555832, 37108607, 37864790, 37924159, 38178159, 38531230, 39273625, 39322953, 39766777, 39875235, 39903689, 40016812, 40149496, 40363838, 8901624, 8925918, 9110991, 9144240, 9250173, 9275228, 9639678, 9880584	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	22312439	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE 18	Alzheimer disease	BEFREE	2139155		★☆☆☆☆ Found in Text Mining only
ALZHEIMER DISEASE 4	Alzheimer disease	UNIPROT_DG	10631141, 10732806, 14681895, 16752394, 16959576, 21285369, 21544564, 22503161, 24838186, 24844686, 7638622, 7651536, 9384602		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALZHEIMER DISEASE 4	Alzheimer disease	CLINVAR_DG	15663477, 16533963, 16959576, 18833506, 18834536, 19073399, 20375137, 20457965, 20634584, 21234330, 22115042, 22249458, 24704512, 24928124, 26166204, 7638622, 7651536, 8986743, 9050898		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALZHEIMER DISEASE 4	Alzheimer disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alzheimer disease type 1	Alzheimer disease	Pubtator	18580586, 30045758, 33678657, 35491795	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	10404731, 10694435, 10732806, 11568920, 11723295, 12210343, 12754354, 12925374, 14623725, 14769392, 15119738, 15119739, 16233903, 18387709, 19073399, 20333730, 20457965, 21034535, 21959359, 24844686, 25138979, 26522186, 28106563, 28350801, 28738127, 29175279, 30104866, 30114415, 30797548, 31127772, 31381512, 9206974, 9225696, 9404712		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	12925374, 16651627, 9050898		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	30104866, 8817335, 9172170		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	10732806, 10891593, 11803125, 22312439, 25814654, 26014970, 31824497, 9111746		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	12925374, 16651627, 9050898		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	12925374, 16651627, 9050898		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	12925374, 16651627, 9050898		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	17981591, 22531416		★☆☆☆☆ Found in Text Mining only
Amyloid angiopathy	Amyloid angiopathy	Pubtator	20375137	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	10636133, 12582468, 22023247, 28120269, 28636676		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	35491795	Associate	★☆☆☆☆ Found in Text Mining only
Asphyxia	Asphyxia	Pubtator	34067945	Associate	★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	CTD_human_DG	17963755		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophy	Atrophy	Pubtator	26507310, 33973882, 34102969	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30221723		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24853428	Inhibit	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	15306129, 20347905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15306129, 20347905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	10727981, 11162921, 11327531, 16474849, 2185238, 2290113, 2303034, 2450536, 2498085, 2583860, 28743541, 3041593, 3321071, 3665845, 3822834, 6593703, 7505265, 7607504, 7880621, 8265245, 9202892, 9306961, 9472649		★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	36175824	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11327531, 11528193, 2306733, 7635445		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	8394203		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10961689		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	17186461		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	20458009	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	17186461	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	28750076, 32344918	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	17186461		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1V	Cardiomyopathy	UNIPROT_DG	17186461		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1V	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1V	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1V	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	17186461		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	17186461		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	39766777	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	Cerebral Amyloid Angiopathy	BEFREE	11914409		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	20375137	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	36175824	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	26159191		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	16902278		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35328387	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	30104866	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	7505265		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17186461		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	1985035		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	10636133, 14681895, 15755689, 18078356, 18427071, 18727676, 19073399, 20375137, 21297263, 26159191, 26203236, 27901073, 29476165, 9354339, 9450781		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	18427071		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	20375137, 21163230, 21297263, 22312439, 22503161, 24885952, 27901073, 29476165, 29859640, 30530974, 33061333, 33203472, 34444269, 35120450	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	GENOMICS_ENGLAND_DG	22503161, 23028126		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	24363250	Inhibit	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	22164253, 22612618		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10362543		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10362543		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	2139155		★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early-onset autosomal dominant Alzheimer disease	Alzheimer disease	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Eczema	Eczema	BEFREE	22164253, 22612618		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	16399808		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	10025714, 10076867, 10218912, 10360683, 10386952, 10574364, 10575009, 10652366, 10662508, 10670705, 10822446, 10850859, 10891593, 10936878, 11126202, 11278424, 11731004, 11752057, 12605888, 12730216, 14623725, 15006697, 15119738, 15663477, 15755689, 15975068, 15992373, 16233903, 16331303, 16474849, 16752394, 16902278, 16908971, 16923170, 17727891, 18087668, 18427071, 19306098, 19604328, 20421691, 20460383, 20842367, 21779722, 21900357, 22531416, 23085935, 24363250, 24594196, 25182745, 25639959, 25694106, 25748120, 25814654, 27060961, 28636676, 29614680, 29857474, 30359395, 30412492, 30598257, 30822634, 31020001, 31416668, 31606858, 7550356, 8574969, 8661049, 8705854, 8817335, 8918895, 8938131, 8939861, 8941712, 9050898, 9106743, 9189035, 9212102, 9398634, 9781063, 9791533, 9880584		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	12925374, 16651627, 9050898		★☆☆☆☆ Found in Text Mining only
Familial Dementia	Dementia	BEFREE	23927914		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	17186461		★☆☆☆☆ Found in Text Mining only
Familial encephalopathy with neuroserpin inclusion bodies	Encephalopathy With Neuroserpin Inclusion Bodies	BEFREE	11914409		★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Frontotemporal dementia	BEFREE	11914409, 16155344, 19012865, 19768372, 25323700, 26159191, 26203236, 29956270		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	22503161, 35752680	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	21959359		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10340748, 22753229		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	17186461		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	17186461	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease-Like Syndrome	Huntington Disease-Like	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertensive disease	Hypertension	BEFREE	22872014		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	10349860	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	16902278, 20375137, 27889678, 9666479		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	2181374		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	10362543		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35491795	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	18727676, 19276543		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	31165862		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	31165862, 36362122	Associate	★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12403846		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24858037, 29109765		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10727981, 11162921, 1350458, 16474849, 1985035, 2181374, 2185238, 2450536, 2498085, 2583860, 28743541, 3041593, 3321071, 3665845, 3822834, 6593703, 7505265, 7607504, 7880621, 8240704, 8265245, 9202892, 9306961, 9472649, 9815611		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10961689		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	7635445		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29109765		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16474849		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29383100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	39213172	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory Disorders	Memory disorders	Pubtator	36362122, 39273625	Associate	★☆☆☆☆ Found in Text Mining only
Memory dysfunction	Memory Disorders	BEFREE	21799245		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	14769392, 18087668, 26159191, 30983028		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	32397113	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11528193, 11577007, 22753229, 24008668, 2498085, 3321071, 8240704, 8358738		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10340748, 10349860, 10632899, 15120619, 15569262, 30559648, 9398634		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	17903177, 22489754, 29859640, 36362122	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	22027014		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	BEFREE	18297084		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	BEFREE	18297084		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10961689, 8078298		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	10362543		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25808939, 26203236		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	8492229		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	11914409, 19012865, 19768372, 26203236		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	10636133, 14681895, 15755689, 18078356, 18427071, 18727676, 19073399, 20375137, 21297263, 26159191, 26203236, 27901073, 29476165, 9354339, 9450781		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	12925374, 16651627, 9050898		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	26159191		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	7635445		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	28041965		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15306129, 19232479, 20347905, 23335491		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19232479, 20347905, 23335491		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	20375137, 22503161	Associate	★☆☆☆☆ Found in Text Mining only
Semantic Dementia	Semantic Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	12582468, 15277614		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10737716		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24008668	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	11528193		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	29269939	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	35491795	Associate	★☆☆☆☆ Found in Text Mining only