PLP1 (proteolipid protein 1)

Gene

• Entrez ID: 5354
• Gene name: Proteolipid protein 1
• Gene symbol: PLP1
• Synonyms (NCBI Gene): GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2
• Chromosome: X
• Chromosome location: Xq22.2
• Summary: This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axona

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT545028	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545029	hsa-miR-586	PAR-CLIP	21572407
MIRT545027	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT551510	hsa-miR-130b-5p	PAR-CLIP	21572407
MIRT545026	hsa-miR-567	PAR-CLIP	21572407
MIRT545025	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT545023	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT545024	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545022	hsa-miR-3924	PAR-CLIP	21572407
MIRT551509	hsa-miR-4753-3p	PAR-CLIP	21572407
MIRT545021	hsa-miR-6844	PAR-CLIP	21572407
MIRT551508	hsa-miR-4666b	PAR-CLIP	21572407
MIRT545020	hsa-miR-675-3p	PAR-CLIP	21572407
MIRT545019	hsa-miR-297	PAR-CLIP	21572407
MIRT545018	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT545017	hsa-miR-147a	PAR-CLIP	21572407
MIRT545016	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT545028	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545029	hsa-miR-586	PAR-CLIP	21572407
MIRT545027	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT545026	hsa-miR-567	PAR-CLIP	21572407
MIRT545025	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT545023	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT545024	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545022	hsa-miR-3924	PAR-CLIP	21572407
MIRT545021	hsa-miR-6844	PAR-CLIP	21572407
MIRT545020	hsa-miR-675-3p	PAR-CLIP	21572407
MIRT545019	hsa-miR-297	PAR-CLIP	21572407
MIRT545018	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT545017	hsa-miR-147a	PAR-CLIP	21572407
MIRT545016	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT735693	hsa-miR-485-3p	Microarray	32006661
MIRT545028	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545029	hsa-miR-586	PAR-CLIP	21572407
MIRT545027	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT551510	hsa-miR-130b-5p	PAR-CLIP	21572407
MIRT545026	hsa-miR-567	PAR-CLIP	21572407
MIRT545025	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT545023	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT545024	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545022	hsa-miR-3924	PAR-CLIP	21572407
MIRT551509	hsa-miR-4753-3p	PAR-CLIP	21572407
MIRT545021	hsa-miR-6844	PAR-CLIP	21572407
MIRT551508	hsa-miR-4666b	PAR-CLIP	21572407
MIRT545020	hsa-miR-675-3p	PAR-CLIP	21572407
MIRT545019	hsa-miR-297	PAR-CLIP	21572407
MIRT545018	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT545017	hsa-miR-147a	PAR-CLIP	21572407
MIRT545016	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT545028	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545029	hsa-miR-586	PAR-CLIP	21572407
MIRT545027	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT545026	hsa-miR-567	PAR-CLIP	21572407
MIRT545025	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT545023	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT545024	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545022	hsa-miR-3924	PAR-CLIP	21572407
MIRT545021	hsa-miR-6844	PAR-CLIP	21572407
MIRT545020	hsa-miR-675-3p	PAR-CLIP	21572407
MIRT545019	hsa-miR-297	PAR-CLIP	21572407
MIRT545018	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT545017	hsa-miR-147a	PAR-CLIP	21572407
MIRT545016	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT1243095	hsa-miR-1273d	CLIP-seq
MIRT1243096	hsa-miR-197	CLIP-seq
MIRT1243097	hsa-miR-3123	CLIP-seq
MIRT1243098	hsa-miR-3671	CLIP-seq
MIRT1243099	hsa-miR-4311	CLIP-seq
MIRT1243100	hsa-miR-4461	CLIP-seq
MIRT1243101	hsa-miR-4762-5p	CLIP-seq
MIRT1243102	hsa-miR-607	CLIP-seq
MIRT2071828	hsa-miR-3074-3p	CLIP-seq
MIRT2298955	hsa-miR-3133	CLIP-seq
MIRT2298956	hsa-miR-3714	CLIP-seq
MIRT2298957	hsa-miR-518a-5p	CLIP-seq
MIRT2298958	hsa-miR-527	CLIP-seq
MIRT2298959	hsa-miR-548an	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	TAS	2479017
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 26871637, 26960425, 32296183, 32814053, 35217805
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24103481
GO:0005886	Component	Plasma membrane	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	2479017
GO:0008366	Process	Axon ensheathment	IEA
GO:0008366	Process	Axon ensheathment	TAS	2479017
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0014002	Process	Astrocyte development	IEA
GO:0016020	Component	Membrane	IEA
GO:0019911	Function	Structural constituent of myelin sheath	IBA
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0022010	Process	Central nervous system myelination	IBA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0042552	Process	Myelination	IEA
GO:0042759	Process	Long-chain fatty acid biosynthetic process	IEA
GO:0042802	Function	Identical protein binding	IPI	17962415
GO:0043209	Component	Myelin sheath	IBA
GO:0043209	Component	Myelin sheath	IEA
GO:0045202	Component	Synapse	IEA
GO:0061564	Process	Axon development	IBA
GO:0061564	Process	Axon development	IEA

Other IDs

• MIM: 300401
• HGNC: 9086
• e!Ensembl: ENSG00000123560

Protein

• UniProt ID: P60201
• Protein name: Myelin proteolipid protein (PLP) (Lipophilin)
• Protein function: This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin.
• PDB: 2XPG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01275	Myelin_PLP	3 → 273	Myelin proteolipid protein (PLP or lipophilin)	Family

• Sequence:

  MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEY
  LINVIHAFQYVIYGTASFFFLYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGG
  QKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALTVVWLLVFACSAVPVYIYFNT
  WTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLF
  IAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF

• Sequence length: 277

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
Auditory neuropathy spectrum disorder	Pathogenic	rs2522317749	RCV003984985	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs2147764634	RCV001848569	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 2	Likely pathogenic; Pathogenic	rs2074517785, rs2147766958, rs2147764634, rs2147764596, rs2147764567, rs2147752783, rs113345335, rs2147764198, rs2522322595, rs786205605, rs2522301730, rs2522300691, rs797045064, rs1467533825, rs2522308589, rs2522301939, rs2522315171, rs864622194, rs878853076, rs886039537, rs11543022, rs132630288, rs132630290, rs132630291, rs132630292, rs132630294, rs1556273075, rs886044450, rs2522301910, rs2522315377, rs2522308250, rs2522307891, rs2522318268, rs1060500909, rs1135401759, rs1556273167, rs1556267123, rs1556267287, rs1602384101, rs1602373055, rs1602385672, rs1602383021, rs2074506871, rs113897548, rs2147762900, rs398123467	RCV001331309 RCV001379651 RCV002545276 RCV001884207 RCV001886905 RCV002049878 RCV002003058 RCV001963109 RCV003050641 RCV003066358 RCV003984826 RCV002622394 RCV002820107 RCV001857679 RCV002839494 RCV002913146 RCV002922866 RCV003002061 RCV000203805 RCV001854777 RCV002288949 RCV001851798 RCV000011834 RCV001851799 RCV000011838 RCV000801130 RCV000011841 RCV003319958 RCV000691268 RCV003512892 RCV003513697 RCV003622655 RCV003623166 RCV005102053 RCV000463096 RCV000496178 RCV000578343 RCV001805225 RCV001860418 RCV000640482 RCV000795658 RCV000810065 RCV001068469 RCV001215006 RCV001225011 RCV003512111 RCV001391608 RCV000794114	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs1556270312	RCV001257698	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pelizaeus-Merzbacher disease	Pathogenic; Likely pathogenic	rs1038021317, rs2147766958, rs2147764634, rs2147766999, rs2147764222, rs2522323175, rs797045064, rs2522314343, rs132630284, rs132630278, rs132630279, rs11543022, rs132630280, rs132630281, rs132630282, rs132630285, rs132630288, rs132630289, rs132630291, rs132630292, rs1569428537, rs1569427707, rs2522308926, rs132630296, rs1556273075, rs886044450, rs2522313994, rs2522301179, rs2522318452, rs2522307997, rs2522308229, rs2522314822, rs2522317742, rs2522301460, rs2522301757, rs113951193, rs2522306651, rs2522306764, rs2522301484, rs2522306943, rs2074498206, rs2522307136, rs2522307282, rs864622194, rs749278720, rs2522307850, rs2522308071, rs2522308342, rs2522301526, rs1013902509, rs2522301573, rs2522313979, rs2074506871, rs2522314007, rs2522301037, rs2522314448, rs1005010589, rs2522301062, rs2522315461, rs2522315532, rs2522317774, rs2522317884, rs2522317982, rs2522301625, rs1556270312, rs2522318268, rs2522322584, rs2522322864, rs1183400865, rs2147768028, rs2522323163, rs2522323235, rs2522323274, rs2522328650, rs2522301288, rs2522301673, rs2522301325, rs1060499653, rs1060500909, rs1556267215, rs1556273167, rs1556269487, rs1556267388, rs1556267123, rs1569427311, rs1569427275, rs1602373055, rs1602382829, rs1602384238, rs1602385663, rs1602383261, rs1602383268, rs2074490307, rs917348091, rs1602383021, rs113897548, rs398123467	RCV001329970 RCV004595597 RCV002286852 RCV002250251 RCV002272930 RCV002510605 RCV000191119 RCV003151927 RCV003985083 RCV000011822 RCV000011823 RCV000011824 RCV000011825 RCV000011826 RCV000011828 RCV000011830 RCV000011831 RCV004595482 RCV000011835 RCV004595483 RCV004595484 RCV000011843 RCV000011845 RCV004589506 RCV000011848 RCV003319958 RCV004595503 RCV003331566 RCV004595714 RCV003988933 RCV004588586 RCV004588587 RCV004588588 RCV004588589 RCV004595749 RCV004595750 RCV004595752 RCV004595753 RCV004595754 RCV004595756 RCV004595759 RCV004595761 RCV004595762 RCV004595763 RCV004595764 RCV004595765 RCV004595766 RCV004595767 RCV004595770 RCV004595771 RCV004595772 RCV004595773 RCV004595775 RCV004595776 RCV004595777 RCV004595778 RCV004595779 RCV004595780 RCV004595782 RCV004595783 RCV004595784 RCV004595785 RCV004595786 RCV004595787 RCV004595788 RCV004595789 RCV004595790 RCV004595791 RCV004595792 RCV004595793 RCV004595794 RCV004595795 RCV004595797 RCV004595798 RCV004595799 RCV004595800 RCV004595801 RCV004595802 RCV004595803 RCV004595805 RCV004595807 RCV004595808 RCV004595809 RCV000449517 RCV000681649 RCV000655935 RCV004796239 RCV000590967 RCV000011844 RCV004595519 RCV003147521 RCV000656398 RCV000680072 RCV000768444 RCV004595533 RCV000990921 RCV000990922 RCV001007563 RCV001007649 RCV001007650 RCV001196160 RCV001197803 RCV004595578 RCV004595587 RCV004595494	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pelizaeus-Merzbacher disease, atypical	Likely pathogenic; Pathogenic	rs132630292, rs2522308926	RCV000011839 RCV000011846	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pelizaeus-Merzbacher disease, connatal	Pathogenic	rs132630286, rs132630293	RCV000011832 RCV000011840	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pelizaeus-Merzbacher disease, mild	Pathogenic	rs132630290	RCV000011836	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PLP1-related disorder	Likely pathogenic; Pathogenic	rs2522301179, rs1556273167	RCV003894079 RCV004730983	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2522308250, rs2522313994	RCV005931649 RCV005933662	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PELIZAEUS-MERZBACHER DISEASE IN FEMALE CARRIER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELIZAEUS-MERZBACHER DISEASE IN FEMALE CARRIERS	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELIZAEUS-MERZBACHER DISEASE NULL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELIZAEUS-MERZBACHER DISEASE TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELIZAEUS-MERZBACHER DISEASE, CLASSIC FORM	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELIZAEUS-MERZBACHER DISEASE, CONNATAL FORM	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELIZAEUS-MERZBACHER DISEASE, TRANSITIONAL FORM	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELIZEAUS-MERZBACHER SPECTRUM DISORDER	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic kidney disease, adult type	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 2, X-LINKED	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA TYPE 2	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher Disease	CTD_human_DG	18571143		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31002412		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	17236193, 29027761		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	8416742		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21784875		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28191734		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	28173160		★☆☆☆☆ Found in Text Mining only
Canavan Disease	Canavan Disease	BEFREE	20637281		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	11274318, 24243499, 28173160		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	24243499		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	18437021		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	LHGDN	18437021		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	18437021	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	9740165		★☆☆☆☆ Found in Text Mining only
Classic Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	CTD_human_DG	18571143		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	BEFREE	27506666		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	10586248, 10586260, 29970109		★☆☆☆☆ Found in Text Mining only
Cockayne-Pelizaeus-Merzbacher Disease	Cockayne Syndrome	CTD_human_DG	18571143		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36622199	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28566702		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19661077	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32797167	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of lung	Congenital lung agenesis	BEFREE	17236193		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	8909455		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	10493736, 28251676		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	12297985, 14681886, 17962415, 19562355, 2479017, 27179222, 38104430, 38219302	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31448840	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11093273, 11761472, 15627202, 16130097, 16778599, 17568416, 2479017, 27179222, 7541901, 8520726, 8780101, 9418954		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30483512		★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	39377933	Associate	★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	12761473		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	34301297	Associate	★☆☆☆☆ Found in Text Mining only
Generalized limb muscle atrophy	Limb Muscle Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	16778599	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34516348	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29992497		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	12325077, 22490426, 31448840, 31585094		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	11470961, 12210342, 24103481, 8780101		★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	30289311		★☆☆☆☆ Found in Text Mining only
Hereditary X-Linked Recessive Spastic Paraplegia	Spastic paraplegia	BEFREE	11535114, 12580714, 15450775, 15627202, 16374829, 16416265, 16441258, 16778599, 18485258, 18783902, 19376225, 19955111, 22101368, 22422208, 23245814, 23711321, 24095575, 24103481, 24685771, 25043250, 28320130, 28735559, 28836307, 30195779, 31448840		★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	590281		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	9740165		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	27506666	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	30289311, 7706447		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27506666		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27506666		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27506666, 31448840	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ischemic stroke	Ischemic Stroke	BEFREE	30918891		★☆☆☆☆ Found in Text Mining only
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	BEFREE	25749076		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	9740165		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	10401787, 12230321, 16416265, 18437021, 18470932, 19562355, 22490426, 23347225, 24095575, 24890387, 27661457, 30195779, 30261498, 31782102		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	1376966, 14681886	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Hypomyelinating, 2	Leukodystrophy	BEFREE	17881259, 31270756		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	28328133		★☆☆☆☆ Found in Text Mining only
Lubs X-linked mental retardation syndrome	Syndromic Mental Retardation, X-linked	BEFREE	25749076		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	23897225	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	17291372, 25930075		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29844511		★☆☆☆☆ Found in Text Mining only
MASA SYNDROME (disorder)	MASA syndrome	BEFREE	7635479, 8520727, 9268109, 9934976		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28532129		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	30199403		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34506833	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11093273, 11761472, 15627202, 16130097, 16778599, 17568416, 2479017, 27179222, 7541901, 8520726, 8780101, 9418954		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10541588, 15120759, 17438221, 20078558, 27917626, 28173160, 28191734, 28320130, 30565754, 30707940, 9460711		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	12355425, 15120759, 27917626, 9278634	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	15788534		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28532129, 9815752		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	12325077, 31448840		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15712223, 16644873, 17171701, 19328639		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	12601703		★☆☆☆☆ Found in Text Mining only
Null syndrome	Null Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	11071483, 19328639, 22490426, 24532200		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	24236209	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	27179222	Associate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	LHGDN	15627202, 18470932		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37947401	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	19875103	Associate	★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	BEFREE	10401787, 10493736, 10586248, 10586260, 10588103, 10651021, 10767322, 10878666, 11071483, 11180600, 11535114, 11536268, 11786921, 11787038, 11805250, 12230321, 12580714, 12601703, 12605435, 12884439, 12910435, 1376553, 1376966, 15214007, 15450775, 15627202, 15689360, 15712223, 15753308, 15827763, 15960310, 16207216, 16353282, 16380909, 16416265, 16441258, 16454941, 16644873, 1676565, 16774974, 16778599, 16844304, 17020474, 1707231, 17115121, 17171653, 1720927, 17568416, 17881259, 17962415, 18160035, 18190592, 18437021, 18470932, 18485258, 18571143, 18783902, 19024090, 19151366, 19328639, 19376225, 19562355, 19875103, 19955111, 20091761, 20513814, 20629189, 20637281, 21082496, 21177054, 21623770, 21682894, 21784154, 22008564, 22016529, 22320281, 22401669, 22422208, 22436581, 22490426, 22511562, 22695888, 23052294, 23245814, 23347225, 23480352, 23597542, 23711321, 23771846, 24139698, 24382809, 24417797, 24521562, 24532200, 24646727, 2480601, 24890387, 24936452, 24974158, 25043250, 25156430, 25491635, 25749076, 26329556, 26725305, 27179222, 27405012, 27506666, 27661457, 27793435, 27882623, 28286750, 28320130, 28328133, 28334874, 28366443, 28735559, 29027761, 29478609, 29486744, 29725841, 30195779, 31004103, 31092737, 31110947, 31585094, 31760646, 31818324, 3746948, 3827224, 3840606, 7488049, 7509234, 7539211, 7539212, 7541731, 7574457, 7635479, 7643352, 7683951, 7684886, 7684945, 7915877, 8012387, 8520727, 8659540, 8733901, 8780101, 8782167, 8786077, 9008538, 9268109, 9305348, 9633722, 9634530, 9672418, 9747038, 9934976		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	UNIPROT_DG	10417279, 10425042, 11093273, 11786921, 1376966, 1384324, 15712223, 1707231, 1708672, 1715570, 2479017, 2480601, 2773936, 7531827, 7539213, 7541731, 7573159, 7679906, 7683951, 7684886, 8037216, 8909455, 9008538, 9143933, 9482656, 9633722, 9747038, 9788732, 9894878, 9934976		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	CLINGEN_DG	11093273, 1723945, 23347225, 23771846, 24519770, 2773936, 28101371, 29486744, 3466187		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	GENOMICS_ENGLAND_DG	11093273, 14452137, 24357685, 25655951		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	LHGDN	12491939, 15627202, 15753308, 15837131, 17962415, 18190592, 18470932, 19024090		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	CLINVAR_DG	12910435, 26633545		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	CTD_human_DG	18571143		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pelizaeus-Merzbacher disease in female carriers	Pelizaeus-Merzbacher disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelizaeus-Merzbacher Disease, Atypical	Hypomyelinating Leukodystrophy	CTD_human_DG	18571143		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pelizaeus-Merzbacher Disease, Atypical	Hypomyelinating Leukodystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pelizaeus-Merzbacher disease, classic form	Pelizaeus-Merzbacher disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelizaeus-Merzbacher disease, connatal form	Pelizaeus-Merzbacher disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelizaeus-Merzbacher Disease, Transitional	Hypomyelinating Leukodystrophy	CTD_human_DG	18571143		★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher disease, transitional form	Pelizaeus-Merzbacher disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pendular Nystagmus	Pendular nystagmus	BEFREE	29246608		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	16374829		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	10586260		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	12601703, 15450775, 31085610		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	14681886, 21679407, 27179222	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	12601703, 15450775, 31085610		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	8909455		★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria, type I	Hyperoxaluria	BEFREE	24990153		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	39812346	Associate	★☆☆☆☆ Found in Text Mining only
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	BEFREE	21292558		★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	LHGDN	18437021		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	21570342	Associate	★☆☆☆☆ Found in Text Mining only
Rotary Nystagmus	Rotary nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15334603, 15694262, 16641098, 18604471, 19875103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	15694262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	15694262, 16641098, 18604471, 19571127		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19875103	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic Ataxia	BEFREE	11071483		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	18470932, 29478609, 31004103, 9672418		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)	Hereditary spastic paraplegia	UNIPROT_DG	10319897, 11093273, 15450775, 17438221, 24103481, 7522741, 8012387, 8780101, 8956049, 9489796		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)	Hereditary spastic paraplegia	GENOMICS_ENGLAND_DG	11093273, 14452137, 25655951, 7488049, 8012387		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)	Hereditary spastic paraplegia	BEFREE	11535114, 15450775, 15627202, 17115121, 18470932, 18485258, 18783902, 19376225, 19955111, 22101368, 22422208, 23711321, 24685771, 25043250, 28836307, 7635479, 8780101		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)	Hereditary spastic paraplegia	CLINVAR_DG	12601703, 16287154, 7531827, 9056547		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)	Hereditary spastic paraplegia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	16778599, 19376225, 21679407, 31448840, 36622199, 37475517, 8320699	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia type 2	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	22101368, 24103481, 29970109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar tract degeneration	Spinocerebellar Degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Striatonigral Degeneration	Striatonigral Degeneration	BEFREE	29298733		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	31191295		★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	36622199	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38307969	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	12761473		★☆☆☆☆ Found in Text Mining only
X-Linked, Spastic Paraplegia, Hereditary	Hereditary spastic paraplegia, X-linked	BEFREE	7643352		★☆☆☆☆ Found in Text Mining only