RAB39B (RAB39B, member RAS oncogene family)

Gene

• Entrez ID: 116442
• Gene name: RAB39B, member RAS oncogene family
• Gene symbol: RAB39B
• Synonyms (NCBI Gene): BGMR, MRX72, WSMN, WSN, XLID72
• Chromosome: X
• Chromosome location: Xq28
• Summary: This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606995	G>T	Pathogenic	Coding sequence variant, stop gained
rs587776734	C>T	Pathogenic	Splice donor variant
rs587777874	G>T	Pathogenic	Missense variant, coding sequence variant
rs864309527	C>T	Pathogenic	Missense variant, coding sequence variant
rs1557314191	C>A	Pathogenic	Stop gained, coding sequence variant
rs1557314544	A>G	Pathogenic	Initiator codon variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024007	hsa-miR-1-3p	Microarray	18668037
MIRT555004	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT555004	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT555003	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT555002	hsa-miR-548n	PAR-CLIP	21572407
MIRT555001	hsa-miR-548l	PAR-CLIP	21572407
MIRT554999	hsa-miR-3609	PAR-CLIP	21572407
MIRT555000	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT554998	hsa-miR-3529-3p	PAR-CLIP	21572407
MIRT554996	hsa-miR-4778-5p	PAR-CLIP	21572407
MIRT554997	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT554995	hsa-miR-520h	PAR-CLIP	21572407
MIRT554994	hsa-miR-3065-5p	PAR-CLIP	21572407
MIRT554992	hsa-miR-5003-5p	PAR-CLIP	21572407
MIRT554993	hsa-miR-4766-5p	PAR-CLIP	21572407
MIRT554990	hsa-miR-3928-3p	PAR-CLIP	21572407
MIRT554991	hsa-miR-6124	PAR-CLIP	21572407
MIRT554989	hsa-let-7f-2-3p	PAR-CLIP	21572407
MIRT554988	hsa-miR-1185-1-3p	PAR-CLIP	21572407
MIRT554987	hsa-miR-1185-2-3p	PAR-CLIP	21572407
MIRT554986	hsa-miR-3915	PAR-CLIP	21572407
MIRT555004	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT555004	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT555003	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT555002	hsa-miR-548n	PAR-CLIP	21572407
MIRT555001	hsa-miR-548l	PAR-CLIP	21572407
MIRT554999	hsa-miR-3609	PAR-CLIP	21572407
MIRT555000	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT554998	hsa-miR-3529-3p	PAR-CLIP	21572407
MIRT554996	hsa-miR-4778-5p	PAR-CLIP	21572407
MIRT554997	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT554995	hsa-miR-520h	PAR-CLIP	21572407
MIRT554994	hsa-miR-3065-5p	PAR-CLIP	21572407
MIRT554992	hsa-miR-5003-5p	PAR-CLIP	21572407
MIRT554993	hsa-miR-4766-5p	PAR-CLIP	21572407
MIRT554990	hsa-miR-3928-3p	PAR-CLIP	21572407
MIRT554991	hsa-miR-6124	PAR-CLIP	21572407
MIRT554989	hsa-let-7f-2-3p	PAR-CLIP	21572407
MIRT554988	hsa-miR-1185-1-3p	PAR-CLIP	21572407
MIRT554987	hsa-miR-1185-2-3p	PAR-CLIP	21572407
MIRT554986	hsa-miR-3915	PAR-CLIP	21572407
MIRT1283886	hsa-miR-101	CLIP-seq
MIRT1283887	hsa-miR-1229	CLIP-seq
MIRT1283888	hsa-miR-1243	CLIP-seq
MIRT1283889	hsa-miR-1261	CLIP-seq
MIRT1283890	hsa-miR-129-5p	CLIP-seq
MIRT1283891	hsa-miR-1297	CLIP-seq
MIRT1283892	hsa-miR-144	CLIP-seq
MIRT1283893	hsa-miR-148a	CLIP-seq
MIRT1283894	hsa-miR-148b	CLIP-seq
MIRT1283895	hsa-miR-152	CLIP-seq
MIRT1283896	hsa-miR-1909	CLIP-seq
MIRT1283897	hsa-miR-26a	CLIP-seq
MIRT1283898	hsa-miR-26b	CLIP-seq
MIRT1283899	hsa-miR-3124-3p	CLIP-seq
MIRT1283900	hsa-miR-320e	CLIP-seq
MIRT1283901	hsa-miR-3545-3p	CLIP-seq
MIRT1283902	hsa-miR-3622a-3p	CLIP-seq
MIRT1283903	hsa-miR-3622b-3p	CLIP-seq
MIRT1283904	hsa-miR-3928	CLIP-seq
MIRT1283905	hsa-miR-4251	CLIP-seq
MIRT1283906	hsa-miR-4277	CLIP-seq
MIRT1283907	hsa-miR-4324	CLIP-seq
MIRT1283908	hsa-miR-433	CLIP-seq
MIRT1283909	hsa-miR-4446-3p	CLIP-seq
MIRT1283910	hsa-miR-4465	CLIP-seq
MIRT1283911	hsa-miR-4656	CLIP-seq
MIRT1283912	hsa-miR-4729	CLIP-seq
MIRT1283913	hsa-miR-4753-3p	CLIP-seq
MIRT1283914	hsa-miR-4768-5p	CLIP-seq
MIRT1283915	hsa-miR-4775	CLIP-seq
MIRT1283916	hsa-miR-520g	CLIP-seq
MIRT1283917	hsa-miR-548ah	CLIP-seq
MIRT1283918	hsa-miR-550b	CLIP-seq
MIRT1283919	hsa-miR-580	CLIP-seq
MIRT1283920	hsa-miR-582-5p	CLIP-seq
MIRT1283921	hsa-miR-587	CLIP-seq
MIRT1283922	hsa-miR-590-3p	CLIP-seq
MIRT1283923	hsa-miR-630	CLIP-seq
MIRT1283924	hsa-miR-9	CLIP-seq
MIRT2084190	hsa-miR-125a-5p	CLIP-seq
MIRT2084191	hsa-miR-125b	CLIP-seq
MIRT2084192	hsa-miR-1272	CLIP-seq
MIRT2084193	hsa-miR-1321	CLIP-seq
MIRT2084194	hsa-miR-1322	CLIP-seq
MIRT2084195	hsa-miR-3152-5p	CLIP-seq
MIRT1283901	hsa-miR-3545-3p	CLIP-seq
MIRT1283902	hsa-miR-3622a-3p	CLIP-seq
MIRT1283903	hsa-miR-3622b-3p	CLIP-seq
MIRT2084196	hsa-miR-375	CLIP-seq
MIRT1283905	hsa-miR-4251	CLIP-seq
MIRT2084197	hsa-miR-4269	CLIP-seq
MIRT2084198	hsa-miR-4319	CLIP-seq
MIRT1283907	hsa-miR-4324	CLIP-seq
MIRT2084199	hsa-miR-4419a	CLIP-seq
MIRT2084200	hsa-miR-4503	CLIP-seq
MIRT2084201	hsa-miR-4510	CLIP-seq
MIRT2084202	hsa-miR-4514	CLIP-seq
MIRT2084203	hsa-miR-4692	CLIP-seq
MIRT2084204	hsa-miR-4739	CLIP-seq
MIRT2084205	hsa-miR-4742-5p	CLIP-seq
MIRT1283913	hsa-miR-4753-3p	CLIP-seq
MIRT2084206	hsa-miR-4756-5p	CLIP-seq
MIRT2084207	hsa-miR-4774-3p	CLIP-seq
MIRT2084208	hsa-miR-4777-5p	CLIP-seq
MIRT2084209	hsa-miR-518d-5p	CLIP-seq
MIRT2084210	hsa-miR-519b-5p	CLIP-seq
MIRT2084211	hsa-miR-519c-5p	CLIP-seq
MIRT2084212	hsa-miR-520c-5p	CLIP-seq
MIRT1283916	hsa-miR-520g	CLIP-seq
MIRT2084213	hsa-miR-526a	CLIP-seq
MIRT1283919	hsa-miR-580	CLIP-seq
MIRT1283920	hsa-miR-582-5p	CLIP-seq
MIRT2309444	hsa-miR-2277-3p	CLIP-seq
MIRT2309445	hsa-miR-3660	CLIP-seq
MIRT2309446	hsa-miR-4526	CLIP-seq
MIRT1283912	hsa-miR-4729	CLIP-seq
MIRT2309447	hsa-miR-664	CLIP-seq
MIRT2606144	hsa-miR-1206	CLIP-seq
MIRT2606145	hsa-miR-1225-5p	CLIP-seq
MIRT2606146	hsa-miR-1324	CLIP-seq
MIRT2606147	hsa-miR-183	CLIP-seq
MIRT2606148	hsa-miR-3132	CLIP-seq
MIRT2606149	hsa-miR-3166	CLIP-seq
MIRT2606150	hsa-miR-3529	CLIP-seq
MIRT2606151	hsa-miR-3688-3p	CLIP-seq
MIRT2606152	hsa-miR-379	CLIP-seq
MIRT2606153	hsa-miR-4261	CLIP-seq
MIRT2606154	hsa-miR-4302	CLIP-seq
MIRT2606155	hsa-miR-4457	CLIP-seq
MIRT2606156	hsa-miR-4522	CLIP-seq
MIRT2606157	hsa-miR-4762-3p	CLIP-seq
MIRT2606158	hsa-miR-513b	CLIP-seq
MIRT2606159	hsa-miR-552	CLIP-seq
MIRT2606160	hsa-miR-579	CLIP-seq
MIRT2606161	hsa-miR-609	CLIP-seq
MIRT2606162	hsa-miR-635	CLIP-seq
MIRT2606163	hsa-miR-873	CLIP-seq
MIRT2606144	hsa-miR-1206	CLIP-seq
MIRT2606155	hsa-miR-4457	CLIP-seq
MIRT2606157	hsa-miR-4762-3p	CLIP-seq
MIRT2606158	hsa-miR-513b	CLIP-seq
MIRT2606160	hsa-miR-579	CLIP-seq
MIRT2606161	hsa-miR-609	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000421	Component	Autophagosome membrane	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003925	Function	G protein activity	IEA
GO:0005515	Function	Protein binding	IPI	24705354, 25416956, 27103069, 31515488, 32296183, 37821429
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005794	Component	Golgi apparatus	IDA	20159109, 24006491
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006914	Process	Autophagy	IEA
GO:0010506	Process	Regulation of autophagy	IMP	27103069
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031489	Function	Myosin V binding	IBA
GO:0031489	Function	Myosin V binding	IPI	24006491
GO:0031982	Component	Vesicle	IDA	24006491
GO:0032482	Process	Rab protein signal transduction	IEA
GO:0043005	Component	Neuron projection	IDA	24006491
GO:0046872	Function	Metal ion binding	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0050808	Process	Synapse organization	ISS
GO:0120281	Component	Autolysosome membrane	IEA

Other IDs

• MIM: 300774
• HGNC: 16499
• e!Ensembl: ENSG00000155961

Protein

• UniProt ID: Q96DA2
• Protein name: Ras-related protein Rab-39B (EC 3.6.5.2)
• Protein function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to r
• PDB: 6S5F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00071	Ras	10 → 173	Ras family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the brain. {ECO:0000269|PubMed:20159109}.
• Sequence:

  MEAIWLYQFRLIVIGDSTVGKSCLIRRFTEGRFAQVSDPTVGVDFFSRLVEIEPGKRIKL
  QIWDTAGQERFRSITRAYYRNSVGGLLLFDITNRRSFQNVHEWLEETKVHVQPYQIVFVL
  VGHKCDLDTQRQVTRHEAEKLAAAYGMKYIETSARDAINVEKAFTDLTRDIYELVKRGEI
  TIQEGWEGVKSGFVPNVVHSSEEVVKSERRCLC

• Sequence length: 213

Pathways

KEGG:

Autophagy - animal
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

Reactome:

RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs

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
Developmental disorder	Likely pathogenic	rs2124126312	RCV001843763	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early-onset parkinsonism-intellectual disability syndrome	Pathogenic	rs587777874, rs864309527	RCV000150034 RCV000207511	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 72	Likely pathogenic; Pathogenic	rs2124130091, rs587776734, rs267606995, rs1557314191	RCV004813203 RCV000011288 RCV000011289 RCV000503295	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs1569561107	RCV000782058	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson disease, X-linked dominant	Pathogenic	rs864309527	RCV000202604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME XQ28 DUPLICATION SYNDROME	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 72	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-syndromic X-linked intellectual disability	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PARKINSONISM, EARLY ONSET WITH MENTAL RETARDATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RAB39B-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAISMAN SYNDROME	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	35088096	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	29152164	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25784538		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	20159109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	20159109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	29152164, 32873259	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	20159109		★☆☆☆☆ Found in Text Mining only
Chromosome Xq28 Duplication Syndrome	Chromosome xq28 duplication syndrome	Pubtator	35595445	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	25927380	Stimulate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	24700761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	29124790		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early-onset parkinsonism-intellectual disability syndrome	Waisman syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CTD_human_DG	20159109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	25784538		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	20159109		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24357492, 25784538, 25927380		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21076407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	25434005, 25784538, 26163985, 27459931, 27925204, 28851564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	25434005, 27459931, 29152164, 32873259, 35088096	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lewy Body Disease	Lewy body disease	Pubtator	25434005, 32762091	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	27459931		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	20159109		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21076407		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	20159109		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	20159109		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	20159109		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 72	Mental Retardation, X-Linked	GENOMICS_ENGLAND_DG	25434005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 72	Mental Retardation, X-Linked	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 72	Mental Retardation, X-Linked	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	25744623		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25434005, 32762091	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25434005		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	32873259	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Autism	Autism	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32702921	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25434005, 26163985, 26399558, 27459931, 27694831, 27838047, 27925204, 28851564, 29315801, 29499499		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25434005, 29128816, 32762091, 32873259, 34247111, 35088096	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease 12	Parkinson disease	Pubtator	29128816, 32762091	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	27459931, 35088096	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	25434005, 27459931, 27838047, 27943471, 28851564		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinsonism early onset with mental retardation	Parkinsonism with cognitive impairment	Pubtator	35088096	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonism, Juvenile	Parkinsonian disease	BEFREE	27943471		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	25784538		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21076407		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	32873259	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Waisman syndrome	Waisman syndrome	CLINGEN_DG	20159109, 21076407, 25434005, 25784538, 27066548, 28851564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waisman syndrome	Waisman syndrome	ORPHANET_DG	25434005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waisman syndrome	Waisman syndrome	UNIPROT_DG	25434005, 26399558, 27066548		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waisman syndrome	Waisman syndrome	BEFREE	25934792, 28380007, 28851564, 29765910, 3094582		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waisman syndrome	Waisman syndrome	GENOMICS_ENGLAND_DG	27694831, 27838047, 27943471		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waisman syndrome	Waisman syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waisman syndrome	Waisman syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young onset Parkinson disease	Parkinson disease	BEFREE	25434005, 29499499		★☆☆☆☆ Found in Text Mining only