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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8086
Gene name	Aladin WD repeat nucleoporin
Gene symbol	AAAS
Synonyms (NCBI Gene)	AAAAAASbADRACALAADRACALINALADINGL003
Chromosome	12
Chromosome location	12q13.13
Summary	The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored the

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80027466	A>G	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Non coding transcript variant, coding sequence variant, synonymous variant
rs121918547	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs121918548	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121918549	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs121918550	A>G	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918551	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs150511103	C>A,G,T	Pathogenic	Splice donor variant
rs369629444	C>G	Pathogenic	Splice acceptor variant
rs387906326	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs552637666	CA>-	Pathogenic	Inframe indel, coding sequence variant, non coding transcript variant, stop gained
rs746305979	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs754637718	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs763216820	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs763820204	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766542823	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs770214071	CAGA>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs773601814	A>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886041850	CAAACACT>-	Pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs1017700992	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1035139364	C>T	Pathogenic	Splice donor variant
rs1565776390	T>A	Pathogenic	Missense variant, splice acceptor variant, coding sequence variant
rs1565781382	T>C	Pathogenic	Splice acceptor variant
rs1592513048	CT>-	Likely-pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031962	hsa-miR-16-5p	Proteomics	18668040
MIRT049994	hsa-miR-28-5p	CLASH	23622248
MIRT041345	hsa-miR-193b-3p	CLASH	23622248
MIRT036148	hsa-miR-1296-5p	CLASH	23622248
MIRT441319	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441319	hsa-miR-218-5p	HITS-CLIP	23212916

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	26246606
GO:0000922	Component	Spindle pole	IEA
GO:0001578	Process	Microtubule bundle formation	IMP	26246606
GO:0005515	Function	Protein binding	IPI	27754849
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095, 27754849
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IBA
GO:0005643	Component	Nuclear pore	IDA	12730363
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006749	Process	Glutathione metabolic process	IEA
GO:0006913	Process	Nucleocytoplasmic transport	IBA
GO:0006913	Process	Nucleocytoplasmic transport	IDA	12730363
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007612	Process	Learning	IEA
GO:0009566	Process	Fertilization	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0031965	Component	Nuclear membrane	IDA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0046822	Process	Regulation of nucleocytoplasmic transport	NAS	12730363
GO:0051028	Process	MRNA transport	IEA
GO:0072686	Component	Mitotic spindle	IDA	26246606
GO:0090307	Process	Mitotic spindle assembly	IMP	26246606

MIM	HGNC	e!Ensembl
605378	13666	ENSG00000094914

Q9NRG9

Protein name

Aladin (Adracalin)

Protein function

Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474, PubMed:11159947, PubMed:16022285). Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein N

PDB

7R5J , 7R5K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	235 → 273	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:11159947, PubMed:16022285). Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung (PubMed:11159947). {ECO:0000269|PubMed:11159947, ECO:

Sequence

MCSLGLFPPPPPRGQVTLYEHNNELVTGSSYESPPPDFRGQWINLPVLQLTKDPLKTPGR
LDHGTRTAFIHHREQVWKRCINIWRDVGLFGVLNEIANSEEEVFEWVKTASGWALALCRW
ASSLHGSLFPHLSLRSEDLIAEFAQVTNWSSCCLRVFAWHPHTNKFAVALLDDSVRVYNA
SSTIVPSLKHRLQRNVASLAWKPLSASVLAVACQSCILIWTLDPTSLSTRPSSGCAQVLS
HPGHTPVTSLAWAPSGGRLLSASPVDAAIRVWDVSTETCVPLPWFRGGGVTNLLWSPDGS
KILATTPSAVFRVWEAQMWTCERWPTLSGRCQTGCWSPDGSRLLFTVLGEPLIYSLSFPE
RCGEGKGCVGGAKSATIVADLSETTIQTPDGEERLGGEAHSMVWDPSGERLAVLMKGKPR
VQDGKPVILLFRTRNSPVFELLPCGIIQGEPGAQPQLITFHPSFNKGALLSVGWSTGRIA
HIPLYFVNAQFPRFSPVLGRAQEPPAGGGGSIHDLPLFTETSPTSAPWDPLPGPPPVLPH
SPHSHL

Sequence length

546

Interactions

View interactions

	KEGG		Reactome
	Nucleocytoplasmic transport		ISG15 antiviral mechanism Transport of the SLBP independent Mature mRNA Transport of the SLBP Dependant Mature mRNA Transport of Mature mRNA Derived from an Intronless Transcript Transport of Mature mRNA derived from an Intron-Containing Transcript Rev-mediated nuclear export of HIV RNA Transport of Ribonucleoproteins into the Host Nucleus NS1 Mediated Effects on Host Pathways Viral Messenger RNA Synthesis NEP/NS2 Interacts with the Cellular Export Machinery Regulation of Glucokinase by Glucokinase Regulatory Protein Vpr-mediated nuclear import of PICs snRNP Assembly SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Nuclear Pore Complex (NPC) Disassembly Regulation of HSF1-mediated heat shock response SUMOylation of SUMOylation proteins SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA replication proteins Transcriptional regulation by small RNAs Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) tRNA processing in the nucleus HCMV Early Events HCMV Late Events

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 (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AAAS-related disorder	Pathogenic	rs121918549, rs763216820, rs746305979	RCV004748500 RCV004748681 RCV003962360	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic	rs777711720	RCV001814251	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achalasia-alacrima syndrome	Pathogenic; Likely pathogenic	rs121918551, rs754637718	RCV002508104 RCV002508105	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Babinski sign	Likely pathogenic; Pathogenic	rs121918550	RCV000415076	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Germ cell tumor of testis	Likely pathogenic; Pathogenic	rs1592513048	RCV005870879	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glucocorticoid deficiency with achalasia	Pathogenic; Likely pathogenic	rs2136811976, rs2136820957, rs765577880, rs1017700992, rs145446970, rs2136811371, rs2121082201, rs754078574, rs774817639, rs1944347921, rs1184877278, rs757303233, rs746057093, rs1297831120, rs2121089586 View all (25 more)	RCV001449917 RCV001449918 RCV003397000 RCV004765890 RCV005006041 View all (38 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperreflexia	Likely pathogenic; Pathogenic	rs121918550	RCV000415076	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic	rs121918549	RCV005887300	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic	rs777711720	RCV001252886	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs121918548	RCV001778647	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraparesis	Likely pathogenic; Pathogenic	rs121918550	RCV000415076	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

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.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ACHALASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE A SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE-A SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (75)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aarskog syndrome	Aarskog Syndrome	BEFREE	18426811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	15690314, 16098009, 20051279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	23825130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alacrima	Alacrima	BEFREE	12717251, 15843079, 18628786, 20674935, 23825130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alacrima	Alacrima	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE	Congenital Alacrima	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	24358274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28148544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	27911893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28148544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	31600784, 35570467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	16098009, 31600784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	33087664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31722714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	31600784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q	Charcot-Marie-Tooth Disease	BEFREE	29661920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31454789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31454789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31722714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	35570467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	16098009, 31600784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	12008750, 26519721, 35570467	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Achalasia	Achalasia	BEFREE	15843079, 18628786, 19172511		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Achalasia	Achalasia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Stricture	Esophageal Stricture	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial glucocorticoid deficiency	Glucocorticoid Deficiency	BEFREE	17466001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Glucocorticoid Deficiency 1	Glucocorticoid deficiency	Pubtator	12008750, 37331934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Glucocorticoid Deficiency Type 1	Glucocorticoid Deficiency	BEFREE	18426811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28303975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	GENOMICS_ENGLAND_DG	11062474, 25529582		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	UNIPROT_DG	11159947		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	ORPHANET_DG	11159947, 11815731, 20674935		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	CLINVAR_DG	11159947, 11701718, 12429595, 12752575, 15666842, 16609705, 18615337, 21865313, 22538409		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	BEFREE	11701718, 11914417, 12008750, 12429595, 12752575, 14646395, 15022193, 15217518, 15690314, 16098009, 16467144, 16479006, 16543750, 16609705, 16937455 View all (26 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	CTD_human_DG	17853339, 23315990		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoglycemia	Hypoglycemia	BEFREE	15690314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic achalasia of esophagus	Idiopathic achalasia	BEFREE	15843079		★★★★★ ★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	28303975		★★★★★ ★☆☆☆☆ 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
Kidney Failure, Acute	Kidney Failure	BEFREE	29576405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31138842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	24763052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31541119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor Neuron Disease	Motor Neuron Disease	BEFREE	20674935, 31600784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	31600784, 33087664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12752575, 1537368, 16098009, 18628786, 26622478, 6243664		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23825130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27911893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31454789, 31541119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	30252181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	35570467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	28303975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	39953608	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	30252181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	28521612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	28303975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	30509370, 30951521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	24763052		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27623077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	18175081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic Ataxia	BEFREE	30252181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	27911893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple A syndrome	Triple A Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

AAAS (aladin WD repeat nucleoporin)